Alteration of Occlusal Plane in Orthognathic Surgery: Clinical Features to Help Treatment Planning on Class III Patients

PubMed Central

Costa, Tony Eduardo; Barbosa, Saulo de Matos; Pereira, Rodrigo Alvitos; Chaves Netto, Henrique Duque de Miranda

2018-01-01

Dentofacial deformities (DFD) presenting mainly as Class III malocclusions that require orthognathic surgery as a part of definitive treatment. Class III patients can have obvious signs such as increasing the chin projection and chin throat length, nasolabial folds, reverse overjet, and lack of upper lip support. However, Class III patients can present different facial patterns depending on the angulation of occlusal plane (OP), and only bite correction does not always lead to the improvement of the facial esthetic. We described two Class III patients with different clinical features and inclination of OP and had undergone different treatment planning based on 6 clinical features: (I) facial type; (II) upper incisor display at rest; (III) dental and gingival display on smile; (IV) soft tissue support; (V) chin projection; and (VI) lower lip projection. These patients were submitted to orthognathic surgery with different treatment plannings: a clockwise rotation and counterclockwise rotation of OP according to their facial features. The clinical features and OP inclination helped to define treatment planning by clockwise and counterclockwise rotations of the maxillomandibular complex, and two patients undergone to bimaxillary orthognathic surgery showed harmonic outcomes and stables after 2 years of follow-up. PMID:29854480

Prevalence of upper airway obstruction in patients with apparently asymptomatic euthyroid multi nodular goitre

PubMed Central

Menon, Sunil K.; Jagtap, Varsha S.; Sarathi, Vijaya; Lila, Anurag R.; Bandgar, Tushar R.; Menon, Padmavathy S; Shah, Nalini S.

2011-01-01

Aims: To study the prevalence of upper airway obstruction (UAO) in “apparently asymptomatic” patients with euthyroid multinodular goitre (MNG) and find correlation between clinical features, UAO on pulmonary function test (PFT) and tracheal narrowing on computerised tomography (CT). Materials and Methods: Consecutive patients with apparently asymptomatic euthyroid MNG attending thyroid clinic in a tertiary centre underwent clinical examination to elicit features of UAO, PFT, and CT of neck and chest. Statistical Analysis Used: Statistical analysis was done with SPSS version 11.5 using paired t-test, Chi square test, and Fisher's exact test. P value of <0.05 was considered to be significant. Results: Fifty-six patients (52 females and four males) were studied. The prevalence of UAO (PFT) and significant tracheal narrowing (CT) was 14.3%. and 9.3%, respectively. Clinical features failed to predict UAO or significant tracheal narrowing. Tracheal narrowing (CT) did not correlate with UAO (PFT). Volume of goitre significantly correlated with degree of tracheal narrowing. Conclusions: Clinical features do not predict UAO on PFT or tracheal narrowing on CT in apparently asymptomatic patients with euthyroid MNG. PMID:21966649

Evaluation of Voice Acoustics as Predictors of Clinical Depression Scores.

PubMed

Hashim, Nik Wahidah; Wilkes, Mitch; Salomon, Ronald; Meggs, Jared; France, Daniel J

2017-03-01

The aim of the present study was to determine if acoustic measures of voice, characterizing specific spectral and timing properties, predict clinical ratings of depression severity measured in a sample of patients using the Hamilton Depression Rating Scale (HAMD) and Beck Depression Inventory (BDI-II). This is a prospective study. Voice samples and clinical depression scores were collected prospectively from consenting adult patients who were referred to psychiatry from the adult emergency department or primary care clinics. The patients were audio-recorded as they read a standardized passage in a nearly closed-room environment. Mean Absolute Error (MAE) between actual and predicted depression scores was used as the primary outcome measure. The average MAE between predicted and actual HAMD scores was approximately two scores for both men and women, and the MAE for the BDI-II scores was approximately one score for men and eight scores for women. Timing features were predictive of HAMD scores in female patients while a combination of timing features and spectral features was predictive of scores in male patients. Timing features were predictive of BDI-II scores in male patients. Voice acoustic features extracted from read speech demonstrated variable effectiveness in predicting clinical depression scores in men and women. Voice features were highly predictive of HAMD scores in men and women, and BDI-II scores in men, respectively. The methodology is feasible for diagnostic applications in diverse clinical settings as it can be implemented during a standard clinical interview in a normal closed room and without strict control on the recording environment. Copyright © 2017 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

Prescribing patterns of psychotropic medications and clinical features in patients with major depressive disorder with and without comorbid dysthymia in China.

PubMed

Feng, Yuan; Sha, Sha; Hu, Chen; Wang, Gang; Ungvari, Gabor S; Chiu, Helen F K; Ng, Chee H; Si, Tian-Mei; Chen, Da-Fang; Fang, Yi-Ru; Lu, Zheng; Yang, Hai-Chen; Hu, Jian; Chen, Zhi-Yu; Huang, Yi; Sun, Jing; Wang, Xiao-Ping; Li, Hui-Chun; Zhang, Jin-Bei; Xiang, Yu-Tao

2017-03-01

Little has been reported about the demographic and clinical features of major depressive disorder (MDD) with comorbid dysthymia in Chinese patients. This study examined the frequency of comorbid dysthymia in Chinese MDD patients together with the demographic and clinical correlates and prescribing patterns of psychotropic drugs. Consecutively collected sample of 1178 patients with MDD were examined in 13 major psychiatric hospitals in China. Patients' demographic and clinical characteristics and psychotropic drugs prescriptions were recorded using a standardized protocol and data collection procedure. The diagnosis of dysthymia was established using the Mini International Neuropsychiatric Interview. Medications ascertained included antidepressants, antipsychotics, benzodiazepines, and mood stabilizers. One hundred and three (8.7%) patients fulfilled criteria for dysthymia. In multiple logistic regression analyses, compared to non-dysthymia counterparts, MDD patients with dysthymia had more depressive episodes with atypical features including increased appetite, sleep, and weight gain, more frequent lifetime depressive episodes, and less likelihood of family history of psychiatric disorders. There was no significant difference in the pattern of psychotropic prescription between the 2 groups. There are important differences in the demographic and clinical features of comorbid dysthymia in Chinese MDD patients compared with previous reports. The clinical profile found in this study has implications for treatment decisions. © 2016 John Wiley & Sons Australia, Ltd.

Frequency and clinical features of patients who attempted suicide by charcoal burning in Japan.

PubMed

Kato, Koji; Akama, Fumiaki; Yamada, Keigo; Maehara, Mizuki; Kimoto, Keitaro; Kimoto, Kousuke; Takahashi, Yuki; Sato, Reiko; Onishi, Yuichi; Matsumoto, Hideo

2013-02-15

To date, the clinical features between patients in Japan who have attempted suicide by charcoal burning and those who have attempted suicide by other methods in the context of a mental disorder diagnosis as assessed by structured interviews have not been reported. We enrolled 647 consecutive patients who attempted suicide and were hospitalized for inpatient treatment. Psychiatric diagnoses, frequency of suicide attempts, and clinical features were compared between charcoal burning and other suicide methods. Twenty of the 647 patients (3.1%) had attempted suicide by charcoal burning. The ratio of men to women was significantly higher by this method compared with that of other methods. The proportion of patients with mood disorders was significantly higher in the charcoal burning group than that in the other methods group. The occurrence of a psychiatric history in patients in the charcoal burning group was significantly lower than that in the other methods group. The study sample was limited to a single hospital. The results demonstrate the clinical characteristics of patients who attempted suicide by charcoal burning. Therefore, it is necessary to identify the clinical features of patients who have attempted suicide by charcoal burning in Japan. Copyright © 2012 Elsevier B.V. All rights reserved.

Molecular and Clinical Characterization of Chikungunya Virus Infections in Southeast Mexico.

PubMed

Galán-Huerta, Kame A; Martínez-Landeros, Erik; Delgado-Gallegos, Juan L; Caballero-Sosa, Sandra; Malo-García, Iliana R; Fernández-Salas, Ildefonso; Ramos-Jiménez, Javier; Rivas-Estilla, Ana M

2018-05-09

Chikungunya fever is an arthropod-borne infection caused by Chikungunya virus (CHIKV). Even though clinical features of Chikungunya fever in the Mexican population have been described before, there is no detailed information. The aim of this study was to perform a full description of the clinical features in confirmed Chikungunya-infected patients and describe the molecular epidemiology of CHIKV. We evaluated febrile patients who sought medical assistance in Tapachula, Chiapas, Mexico, from June through July 2015. Infection was confirmed with molecular and serological methods. Viruses were isolated and the E1 gene was sequenced. Phylogeny reconstruction was inferred using maximum-likelihood and maximum clade credibility approaches. We studied 52 patients with confirmed CHIKV infection. They were more likely to have wrist, metacarpophalangeal, and knee arthralgia. Two combinations of clinical features were obtained to differentiate between Chikungunya fever and acute undifferentiated febrile illness. We obtained 10 CHIKV E1 sequences that grouped with the Asian lineage. Seven strains diverged from the formerly reported. Patients infected with the divergent CHIKV strains showed a broader spectrum of clinical manifestations. We defined the complete clinical features of Chikungunya fever in patients from Southeastern Mexico. Our results demonstrate co-circulation of different CHIKV strains in the state of Chiapas.

Late-Onset Hepatic Veno-Occlusive Disease after Allografting: Report of Two Cases with Atypical Clinical Features Successfully Treated with Defibrotide.

PubMed

Castellino, Alessia; Guidi, Stefano; Dellacasa, Chiara Maria; Gozzini, Antonella; Donnini, Irene; Nozzoli, Chiara; Manetta, Sara; Aydin, Semra; Giaccone, Luisa; Festuccia, Moreno; Brunello, Lucia; Maffini, Enrico; Bruno, Benedetto; David, Ezio; Busca, Alessandro

2018-01-01

Hepatic Veno-Occlusive Disease (VOD) is a potentially severe complication of hematopoietic stem cell transplantation (HSCT). Here we report two patients receiving an allogeneic HSCT who developed late onset VOD with atypical clinical features. The two patients presented with only few risk factors, namely, advanced acute leukemia, a myeloablative busulphan-containing regimen and received grafts from an unrelated donor. The first patient did not experience painful hepatomegaly and weight gain and both patients showed only a mild elevation in total serum bilirubin level. Most importantly, the two patients developed clinical signs beyond day 21 post-HSCT. Hepatic transjugular biopsy confirmed the diagnosis of VOD. Intravenous defibrotide was promptly started leading to a marked clinical improvement. Based on our experience, liver biopsy may represent a useful diagnostic tool when the clinical features of VOD are ambiguous. Early therapeutic intervention with defibrotide represents a crucial issue for the successful outcome of patients with VOD.

Late-Onset Hepatic Veno-Occlusive Disease after Allografting: Report of Two Cases with Atypical Clinical Features Successfully Treated with Defibrotide

PubMed Central

Castellino, Alessia; Guidi, Stefano; Dellacasa, Chiara Maria; Gozzini, Antonella; Donnini, Irene; Nozzoli, Chiara; Manetta, Sara; Aydin, Semra; Giaccone, Luisa; Festuccia, Moreno; Brunello, Lucia; Maffini, Enrico; Bruno, Benedetto; David, Ezio; Busca, Alessandro

2018-01-01

Hepatic Veno-Occlusive Disease (VOD) is a potentially severe complication of hematopoietic stem cell transplantation (HSCT). Here we report two patients receiving an allogeneic HSCT who developed late onset VOD with atypical clinical features. The two patients presented with only few risk factors, namely, advanced acute leukemia, a myeloablative busulphan-containing regimen and received grafts from an unrelated donor. The first patient did not experience painful hepatomegaly and weight gain and both patients showed only a mild elevation in total serum bilirubin level. Most importantly, the two patients developed clinical signs beyond day 21 post-HSCT. Hepatic transjugular biopsy confirmed the diagnosis of VOD. Intravenous defibrotide was promptly started leading to a marked clinical improvement. Based on our experience, liver biopsy may represent a useful diagnostic tool when the clinical features of VOD are ambiguous. Early therapeutic intervention with defibrotide represents a crucial issue for the successful outcome of patients with VOD. PMID:29326798

Evaluation of features to support safety and quality in general practice clinical software

PubMed Central

2011-01-01

Background Electronic prescribing is now the norm in many countries. We wished to find out if clinical software systems used by general practitioners in Australia include features (functional capabilities and other characteristics) that facilitate improved patient safety and care, with a focus on quality use of medicines. Methods Seven clinical software systems used in general practice were evaluated. Fifty software features that were previously rated as likely to have a high impact on safety and/or quality of care in general practice were tested and are reported here. Results The range of results for the implementation of 50 features across the 7 clinical software systems was as follows: 17-31 features (34-62%) were fully implemented, 9-13 (18-26%) partially implemented, and 9-20 (18-40%) not implemented. Key findings included: Access to evidence based drug and therapeutic information was limited. Decision support for prescribing was available but varied markedly between systems. During prescribing there was potential for medicine mis-selection in some systems, and linking a medicine with its indication was optional. The definition of 'current medicines' versus 'past medicines' was not always clear. There were limited resources for patients, and some medicines lists for patients were suboptimal. Results were provided to the software vendors, who were keen to improve their systems. Conclusions The clinical systems tested lack some of the features expected to support patient safety and quality of care. Standards and certification for clinical software would ensure that safety features are present and that there is a minimum level of clinical functionality that clinicians could expect to find in any system.

Asthma-like Features and Clinical Course of Chronic Obstructive Pulmonary Disease. An Analysis from the Hokkaido COPD Cohort Study.

PubMed

Suzuki, Masaru; Makita, Hironi; Konno, Satoshi; Shimizu, Kaoruko; Kimura, Hiroki; Kimura, Hirokazu; Nishimura, Masaharu

2016-12-01

Some patients with chronic obstructive pulmonary disease (COPD) have asthma-like features, such as significant bronchodilator reversibility, blood eosinophilia, and/or atopy, even if they are not clinically diagnosed as having asthma. However, the clinical significance of asthma-like features overlapping with COPD remains unclear. The aim of this study was to assess the effect of asthma-like features on the clinical course of patients with COPD who were adequately treated and followed-up over 10 years. A total of 268 patients with COPD who had been clinically considered as not having asthma by respiratory specialists were included in this study. The asthma-like features included in this study were bronchodilator reversibility (ΔFEV 1 , ≥12% and ≥200 ml), blood eosinophilia (≥300 cells/μl), and atopy (positive specific IgE for any inhaled antigen). The annual changes in post-bronchodilator FEV 1 and COPD exacerbations were monitored during the first 5 years, and mortality was followed during the entire 10 years of the study. Fifty-seven subjects (21%) had bronchodilator reversibility, 52 (19%) had blood eosinophilia, and 67 (25%) had atopy. Subjects with blood eosinophilia had significantly slower annual post-bronchodilator FEV 1 decline; bronchodilator reversibility and atopy did not affect the annual post-bronchodilator FEV 1 decline, and none of the asthma-like features was associated with development of COPD exacerbation. Even if subjects had two or more asthma-like features, they displayed annual post-bronchodilator FEV 1 declines and exacerbation rates similar to those of subjects with one or zero asthma-like features, as well as a lower 10-year mortality rate (P = 0.02). The presence of asthma-like features was associated with better clinical course in patients with COPD receiving appropriate treatment.

Clinical and laboratory features of patients of Vietnamese descent with systemic lupus erythematosus.

PubMed

Phan, J C; Bush, T M; Donald, F; Ward, M

1999-01-01

The prevalence rate and disease manifestations of systemic lupus erythematosus (SLE) have been noted to vary among different ethnic groups. There has been no description in the English literature of SLE in the Vietnamese population. This is the first report, which details the clinical and laboratory features as well as an estimation of the prevalence of SLE in patients with a Vietnamese ancestry living in the United States. We performed a retrospective chart review of clinical and laboratory features of patients of Vietnamese descent with SLE. The case finding was performed by a review of the rheumatology clinic records at two large teaching hospitals in Santa Clara County searching for patients with SLE with a Vietnamese surname. In addition, we recruited patients by contacting all of the rheumatologists practicing in the county. Twenty-three patients of Vietnamese descent were identified with SLE in Santa Clara County. The estimated prevalence of SLE in the patients of Vietnamese descent was 42 cases per 100 000 persons. Eighty-seven per cent of the cases were born in Vietnam. The clinical and laboratory features of SLE were similar to prior published reviews except for a relatively high prevalence of anti-RNP antibody (54%). The patients with anti-RNP antibody exhibited features of overlap syndrome. There was a high rate of exposure to tuberculosis (TB). Fifty-eight per cent of patients had a positive purified protein derivative (PPD) skin test and 27% of patients had a history of clinical TB. Forty-four per cent of patients had evidence of hepatitis B exposure. The prevalence of SLE in the Vietnamese population in Santa Clara County is similar to that of other Asian populations. There was a relatively high prevalence of anti-RNP antibody in our patient group which was associated with overlap features. As expected in an immigrant population from Southeast Asia, there was a high rate of prior exposure to tuberculosis and hepatitis B. Clinicians should diligently screen for these infections and appropriately prophylaxe and treat patients.

[Granulomatous lobular mastitis: a clinicopathologic study of 68 cases].

PubMed

Cheng, Juan; Du, Yu-tang; Ding, Hua-ye

2010-10-01

To study the clinical and pathologic features of granulomatous lobular mastitis (GLM). Sixty-eight cases of GLM were retrieved from the archival file. The clinical data and histologic features were retrospectively reviewed. Sixty-eight patients presented with breast mass. Ulceration in overlying breast skin was seen in 9 cases. Most of the patients had history of breast feeding. None of them had evidence of specific infections involving the breast. The clinical and radiologic features mimicked malignancy. Histologically, GLM was characterized by the presence of non-necrotizing granulomas, usually admixed with neutrophils and associated with benign ductolobular units. The ductolobular architecture was still preserved. The duration of follow up ranged from 6 to 36 months. Four patients suffered from disease recurrence. GLM shows clinical and radiologic features reminiscent of breast cancer. Correct diagnosis requires histologic examination of the biopsy specimens.

Usability Assessment of Secure Messaging for Clinical Document Sharing between Health Care Providers and Patients.

PubMed

Jahn, Michelle A; Porter, Brian W; Patel, Himalaya; Zillich, Alan J; Simon, Steven R; Russ, Alissa L

2018-04-01

 Web-based patient portals feature secure messaging systems that enable health care providers and patients to communicate information. However, little is known about the usability of these systems for clinical document sharing.  This article evaluates the usability of a secure messaging system for providers and patients in terms of its ability to support sharing of electronic clinical documents.  We conducted usability testing with providers and patients in a human-computer interaction laboratory at a Midwestern U.S. hospital. Providers sent a medication list document to a fictitious patient via secure messaging. Separately, patients retrieved the clinical document from a secure message and returned it to a fictitious provider. We collected use errors, task completion, task time, and satisfaction.  Twenty-nine individuals participated: 19 providers (6 physicians, 6 registered nurses, and 7 pharmacists) and 10 patients. Among providers, 11 (58%) attached and sent the clinical document via secure messaging without requiring assistance, in a median (range) of 4.5 (1.8-12.7) minutes. No patients completed tasks without moderator assistance. Patients accessed the secure messaging system within 3.6 (1.2-15.0) minutes; retrieved the clinical document within 0.8 (0.5-5.7) minutes; and sent the attached clinical document in 6.3 (1.5-18.1) minutes. Although median satisfaction ratings were high, with 5.8 for providers and 6.0 for patients (scale, 0-7), we identified 36 different use errors. Physicians and pharmacists requested additional features to support care coordination via health information technology, while nurses requested features to support efficiency for their tasks.  This study examined the usability of clinical document sharing, a key feature of many secure messaging systems. Our results highlight similarities and differences between provider and patient end-user groups, which can inform secure messaging design to improve learnability and efficiency. The observations suggest recommendations for improving the technical aspects of secure messaging for clinical document sharing. Schattauer GmbH Stuttgart.

Recipient area folliculitis after follicular-unit transplantation: characterization of clinical features and analysis of associated factors.

PubMed

Bunagan, M J Kristine S; Pathomvanich, Damkerng; Laorwong, Kongkiat

2010-07-01

Postoperative recipient-area folliculitis may be a cause of less or delayed growth of transplanted hair and an obvious cause of distress to the patient. No study has been done to elaborate on its clinical features and assess possible factors that may correlate with its occurrence. To study the clinical features and possible factors that may be associated with the development of recipient-area folliculitis after follicular-unit transplantation (FUT). Retrospective analysis of 27 patients who developed folliculitis after FUT and 28 patients without such complication. Lesion onset ranged from 2 days to 6 months after FUT (mean 1.44 months). Lesions were mostly pustules that resolved without sequela. Statistical analysis showed that, in terms of patient characteristics (e.g., hair features, scalp condition) and the number of grafts transplanted, there was no statistically significant difference in assessed parameters between those with and without folliculitis (p<.05). Main clinical features of postoperative folliculitis consist mostly of few to moderate self-limited pustules. In this study, regardless of management, lesions healed without scarring and without affecting graft growth. Neither patient characteristics nor number of grafts transplanted was associated with this complication.

Plantar keloids: diagnostic and therapeutic issues in six patients.

PubMed

Vanhaecke, C; Hickman, G; Cavelier-Balloy, B; Masson, V; Duron, J-B; Gorj, M; May, P; Schneider, P; Vilmer, C; Bagot, M; Battistella, M; Petit, A

2015-07-01

Keloids are benign fibro-proliferative skin lesions that very rarely occur on the soles. Because of their rarity, the diagnosis of plantar keloids can be difficult. We describe the clinical and histopathological characteristics of eight plantar keloids. All patients presenting with plantar keloids between 2005 and 2012 in our Dermatology unit were retrospectively included. Diagnosis was definitely established by re-reading of pathological slides in all cases. Clinical characteristics, histopathological features, treatments given and their results were collected. Six patients were included. Five patients had a single plantar keloid and one had three lesions. They all were of African descent. Only one patient remembered of a previous injury at the site of the keloid. Three patients presented with associated extra-plantar keloids. In four patients, the diagnosis of keloid was not initially suspected clinically or histologically. Re-reading of the clinical photographs showed that the eight plantar keloids shared common morphological features, leading to a distinctive clinical picture, defined by a hardened lesion of rounded or polycyclic shape, with a pink surface crossed by keratotic furrows and the presence of a hyperkeratotic rim. Concerning pathological features, typical hyalinized collagen can be missing and deep fibrosis should not rule out the diagnosis of keloid. Intralesional injection of triamcinolone acetonide and orthopaedic shoes were useful. All patients who had surgical excision presented recurrence. The knowledge of the clinical features of plantar keloids is helpful to the diagnosis. There is no well-established treatment, but supportive measures are important. © 2014 European Academy of Dermatology and Venereology.

Clinical characteristics and medication use patterns among hospitalized patients admitted with psychotic vs nonpsychotic major depressive disorder.

PubMed

Gaudiano, Brandon A; Weinstock, Lauren M; Epstein-Lubow, Gary; Uebelacker, Lisa A; Miller, Ivan W

2016-02-01

In routine practice, major depressive disorder (MDD) with psychotic features often goes under-recognized and undertreated. Previous research has specified several demographic and clinical differences in MDD patients with psychotic features compared with those without psychosis in routine outpatient practice, but there is little systematic research in modern routine hospital settings. We conducted a retrospective electronic medical records chart review of 1,314 patients diagnosed with MDD who were admitted consecutively to a major psychiatric hospital over a 1-year period. We examined the prevalence of psychotic features in the sample and investigated the differences in demographic variables, clinical characteristics, and medication use patterns among patients with and without psychosis. The prevalence of psychotic features was 13.2% in the current hospital sample. Patients with psychotic depression were more likely to be older, male, a member of a racial/ethnic minority, and have more medical comorbidities and certain Axis I disorders compared with nonpsychotic patients. In addition, patients with psychotic depression were more likely to be prescribed antipsychotics and hypnotics before admission. Several demographic and clinical characteristics differentiate MDD patients with psychosis from those without psychosis in hospital settings that may be helpful in identifying these patients. Comparisons with outpatient samples and treatments implications are discussed.

Abnormal hepatic biochemistries and clinical liver disease in patients with primary Sjögren's syndrome.

PubMed

Montaño-Loza, Aldo J; Crispín-Acuña, José Carlos; Remes-Troche, José María; Uribe, Misael

2007-01-01

Patients with primary Sjögren's syndrome may present liver involvement. Our goals were to establish the prevalence of abnormal hepatic biochemistries and clinical liver disease in patients with primary Sjögren's syndrome and correlate their presence with other clinical and laboratory features. Ninety-five patients with diagnosis of primary Sjögren's syndrome were studied. Data on gender, age, clinical features, liver biochemistries, tests of inflammation and autoimmunity, and concomitant diseases were collected. Forty-two patients (44%) had abnormal hepatic biochemistries, and of these 19 patients (20%) had clinical liver disease. Patients with abnormal hepatic biochemistries had higher frequency of autoimmune hypotiroidism, arthritis, vasculitis, Raynaud's phenomenon, higher sedimentation rate,and higher frequency of antinuclear and antimitochondrial antibodies than patients with normal liver biochemistries (P < 0.05 for each). Patients with clinical liver disease had higher frequency of arthritis, vasculitis, and higher frequency of antimitochondrial antibodies than patients without clinical liver disease (P < 0.05 for each). Twenty-one patients had diagnosis of a specific liver disease, such as hepatitis C virus infection (n = 11), autoimmune hepatitis (n = 2), primary biliary cirrhosis (n =5),nonalcoholic fatty liver disease (n = 2), and hepatitis B virus infection (n = 1). In half of patients with liver involvement a definitive cause could not be identified. Liver involvement is frequently found in patients with primary Sjögren's syndrome, and its presence is associated with clinical features of systemic disease, and markers of autoimmunity and inflammation. There may be a subgroup of patients with liver involvement secondary to primary Sjögren's syndrome.

Molecular and Clinical Characterization of Chikungunya Virus Infections in Southeast Mexico

PubMed Central

Martínez-Landeros, Erik; Delgado-Gallegos, Juan L.; Caballero-Sosa, Sandra; Malo-García, Iliana R.

2018-01-01

Chikungunya fever is an arthropod-borne infection caused by Chikungunya virus (CHIKV). Even though clinical features of Chikungunya fever in the Mexican population have been described before, there is no detailed information. The aim of this study was to perform a full description of the clinical features in confirmed Chikungunya-infected patients and describe the molecular epidemiology of CHIKV. We evaluated febrile patients who sought medical assistance in Tapachula, Chiapas, Mexico, from June through July 2015. Infection was confirmed with molecular and serological methods. Viruses were isolated and the E1 gene was sequenced. Phylogeny reconstruction was inferred using maximum-likelihood and maximum clade credibility approaches. We studied 52 patients with confirmed CHIKV infection. They were more likely to have wrist, metacarpophalangeal, and knee arthralgia. Two combinations of clinical features were obtained to differentiate between Chikungunya fever and acute undifferentiated febrile illness. We obtained 10 CHIKV E1 sequences that grouped with the Asian lineage. Seven strains diverged from the formerly reported. Patients infected with the divergent CHIKV strains showed a broader spectrum of clinical manifestations. We defined the complete clinical features of Chikungunya fever in patients from Southeastern Mexico. Our results demonstrate co-circulation of different CHIKV strains in the state of Chiapas. PMID:29747416

[Clinical features of major depressive disorders treated in secondary health care facilities in Chile].

PubMed

Salvo, Lilian; Saldivia, Sandra; Parra, Carlos; Rodríguez, Román; Cifuentes, Manuel; Acevedo, Paola; Díaz, Marcela; Ormazabal, Mitza; Guerra, Ivonne; Navarrete, Nicol; Bravo, Verónica; Castro, Andrea

2017-03-01

Depression is considered the second leading cause of disability worldwide. To describe the clinical characteristics and the evolution of major depressive disorder (MDD) in secondary care. To evaluate the association between socio-demographic and clinic variables with the first or recurrent major depressive events (MDE). Clinical features, treatment, remission and duration of MDE were evaluated during a follow up lasting 12 months in 112 participants aged 44 ± 15 years (79% women). Patients were assessed as outpatients every three months at three psychiatric care centers of Chile. Clinical interviews were carried out using DSM-IV diagnostic criteria checklists and the Hamilton Depression Scale was applied. Most patients were referred from primary care. The mean time lapse for referral to the secondary level was 10.8 months. Most patients had episodes that were recurrent, severe, with a high rate of psychosis, with suicide attempts and melancholic features and with psychiatric and medical comorbidities. Remission rate was 27.5%. In only 16 % of patients, the episode lasted six months or less. The group with recurrent episodes had different age, sex and clinical features. MDD treated at the secondary care level is severe and its symptoms are intense. The time lapse prior to referral was prolonged. Primary care management and referral of these patients should be studied more closely.

Research design features and patient characteristics associated with the outcome of antidepressant clinical trials.

PubMed

Khan, Arif; Kolts, Russell L; Thase, Michael E; Krishnan, K Ranga Rama; Brown, Walter

2004-11-01

The authors examined which, if any, research design features and patient characteristics would significantly differ between successful and unsuccessful antidepressant trials. Clinical trial data were reviewed for nine antidepressants approved by the Food and Drug Administration between 1985 and 2000. From the antidepressant research programs on these medications, 52 clinical trials were included in the study. The authors evaluated trial design features, patient characteristics, and difference in response between placebo and antidepressant. Nine trial design features and patient characteristics were present in the research programs for all nine of the antidepressants. The severity of depressive symptoms before patient randomization, the dosing schedule (flexible versus fixed), the number of treatment arms, and the percentage of female patients were significantly associated with the difference in response to antidepressant and placebo. The duration of the antidepressant trial, number of patients per treatment arm, number of sites, and mean age of the patients were similar in successful trials (with a greater antidepressant-placebo difference) and less successful trials (with a smaller antidepressant-placebo difference). These findings may help in the design of future antidepressant trials.

Clinical significance of owl eye morphologic features by in vivo laser confocal microscopy in patients with cytomegalovirus corneal endotheliitis.

PubMed

Kobayashi, Akira; Yokogawa, Hideaki; Higashide, Tomomi; Nitta, Koji; Sugiyama, Kazuhisa

2012-03-01

To demonstrate the clinical significance of owl eye morphologic features observed by in vivo laser confocal microscopy in patients with cytomegalovirus (CMV) corneal endotheliitis. Observational case series. participants: Six eyes of 6 patients (6 men; mean age, 73.3 years) with cytomegalovirus corneal endotheliitis diagnosed by clinical manifestations together with polymerase chain reaction from aqueous humor samples. intervention: All patients were examined by slit-lamp biomicroscopy and in vivo laser confocal microscopy. main outcome measures: Clinical manifestations were summarized by reviewing medical records. Selected confocal images of corneal layers were evaluated qualitatively for shape and degree of light reflection of abnormal cells and deposits. All patients had long histories of anterior uveitis with intraocular pressure elevation, corneal edema with keratic precipitates, and decrease of endothelial cell densities. Coin-shaped lesions were observed by slit lamp only in 1 patient at the first visit and in 2 additional patients at subsequent follow-up. In all patients, confocal microscopy demonstrated reduced subepithelial nerves, subepithelial opacity, increased reflectivity of keratocytes, highly reflective dots, and needle-shaped bodies. Owl eye morphologic features were observed consistently in all patients at the initial visit, and highly reflective round bodies were detected in 5 patients; most notably, these confocal features were reversible after resolution of endotheliitis. Owl eye morphologic features and highly reflective round bodies observed by confocal microscopy may be useful as an adjunct for the noninvasive diagnosis of cytomegalovirus corneal endotheliitis. Reversibility of these features after resolution of endotheliitis may be useful for monitoring the therapeutic effects without multiple anterior chamber tap. Copyright © 2012 Elsevier Inc. All rights reserved.

Clinical and immunological features of systemic lupus erythematosus complicated by Jaccoud's arthropathy.

PubMed

Takeishi, M; Mimori, A; Suzuki, T

2001-03-01

Abstract This work was undertaken to evaluate clinical and immunological features in patients with systemic lupus erythematosus (SLE) complicated by Jaccoud's arthropathy. Patients diagnosed with SLE between 1985 and 1999, and who met the criteria of Villiaumey et al., were checked for Jaccoud's arthropathy. Clinical features were retrospectively analysed for patients with both diseases. Sjögren's syndrome and human leukocyte antigens (HLA) in these patients were evaluated. Jaccoud's arthropathy was found in 15 (4.4%) of 340 patients with SLE. The mean age at the time of SLE diagnosis was significantly higher in these patients than in our control SLE patients, which was 51.2 ± 13.0 years (n = 15) and 29.6 ± 13.0 years (n = 222) (p = 2.1 × 10(-8)). Sjögren's syndrome was diagnosed according to the European Community Study Group's criteria in 10 (91%) of 11 patients examined. The incidence of HLA-A11 (5/9, 55%) and -B61(40) (5/9, 55%) in patients with Jaccoud's arthropathy was higher in the Japanese population (A11, 17.4%, p < 0.05; B61, 17.5%, p < 0.057. Jaccoud's arthropathy in patients with SLE is associated with Sjögren's syndrome, elderly SLE, HLA-A11, and HLA-B61. These clinical features might be characteristic of patients with Jaccoud's arthropathy and SLE.

Waardenburg syndrome in four Mexican patients.

PubMed

Aguilar Caso, Sandra I; Ortiz Nieva, Gabriela

2009-01-01

Waardenburg syndrome is a hereditary auditory-pigmentary syndrome. The major features include pigmentary disturbances and congenital deafness. Clinical findings are extremely variable, not only at the authors' institution but also in the literature. The authors describe four patients who presented with various clinical features and different genetic pedigree penetration.

Machine Learning Approach for Classifying Multiple Sclerosis Courses by Combining Clinical Data with Lesion Loads and Magnetic Resonance Metabolic Features.

PubMed

Ion-Mărgineanu, Adrian; Kocevar, Gabriel; Stamile, Claudio; Sima, Diana M; Durand-Dubief, Françoise; Van Huffel, Sabine; Sappey-Marinier, Dominique

2017-01-01

Purpose: The purpose of this study is classifying multiple sclerosis (MS) patients in the four clinical forms as defined by the McDonald criteria using machine learning algorithms trained on clinical data combined with lesion loads and magnetic resonance metabolic features. Materials and Methods: Eighty-seven MS patients [12 Clinically Isolated Syndrome (CIS), 30 Relapse Remitting (RR), 17 Primary Progressive (PP), and 28 Secondary Progressive (SP)] and 18 healthy controls were included in this study. Longitudinal data available for each MS patient included clinical (e.g., age, disease duration, Expanded Disability Status Scale), conventional magnetic resonance imaging and spectroscopic imaging. We extract N -acetyl-aspartate (NAA), Choline (Cho), and Creatine (Cre) concentrations, and we compute three features for each spectroscopic grid by averaging metabolite ratios (NAA/Cho, NAA/Cre, Cho/Cre) over good quality voxels. We built linear mixed-effects models to test for statistically significant differences between MS forms. We test nine binary classification tasks on clinical data, lesion loads, and metabolic features, using a leave-one-patient-out cross-validation method based on 100 random patient-based bootstrap selections. We compute F1-scores and BAR values after tuning Linear Discriminant Analysis (LDA), Support Vector Machines with gaussian kernel (SVM-rbf), and Random Forests. Results: Statistically significant differences were found between the disease starting points of each MS form using four different response variables: Lesion Load, NAA/Cre, NAA/Cho, and Cho/Cre ratios. Training SVM-rbf on clinical and lesion loads yields F1-scores of 71-72% for CIS vs. RR and CIS vs. RR+SP, respectively. For RR vs. PP we obtained good classification results (maximum F1-score of 85%) after training LDA on clinical and metabolic features, while for RR vs. SP we obtained slightly higher classification results (maximum F1-score of 87%) after training LDA and SVM-rbf on clinical, lesion loads and metabolic features. Conclusions: Our results suggest that metabolic features are better at differentiating between relapsing-remitting and primary progressive forms, while lesion loads are better at differentiating between relapsing-remitting and secondary progressive forms. Therefore, combining clinical data with magnetic resonance lesion loads and metabolic features can improve the discrimination between relapsing-remitting and progressive forms.

Clinical and prognostic subforms of new daily-persistent headache

PubMed Central

Grosberg, B.M.; Napchan, U.; Crystal, S.C.; Lipton, R.B.

2010-01-01

Background: According to the International Classification of Headache Disorders (ICHD)–2, primary daily headaches unremitting from onset are classified as new daily-persistent headache (NDPH) only if migraine features are absent. When migraine features are present, classification is problematic. Methods: We developed a revised NDPH definition not excluding migraine features (NDPH-R), and applied it to consecutive patients seen at the Montefiore Headache Center. We divided this group into patients meeting ICHD-2 criteria (NDPH-ICHD) and those with too many migraine features for ICHD-2 (NDPH-mf). We compared clinical and demographic features in these groups, identifying 3 prognostic subgroups: persisting, remitting, and relapsing-remitting. Remitting and relapsing-remitting patients were combined into a nonpersisting group. Results: Of 71 NDPH-R patients, 31 (43.7%) also met NDPH-ICHD-2 criteria. The NDPH-mf and the NDPH-ICHD-2 groups were similar in most clinical features though the NDPH-mf group was younger, included more women, and had a higher frequency of depression. The groups were similar in the prevalence of allodynia, triptan responsiveness, and prognosis. NDPH-R prognostic subforms were also very similar, although the persisting subform was more likely to be of white race, to have anxiety or depression, and to have a younger onset age. Conclusions: Current International Classification of Headache Disorders (ICHD)–2 criteria exclude the majority of patients with primary headache unremitting from onset. The proposed criteria for revised new daily-persistent headache definition not excluding migraine features (NDPH-R) classify these patients into a relatively homogeneous group based on demographics, clinical features, and prognosis. Both new daily-persistent headache with too many migraine features for ICHD-2 and new daily-persistent headache meeting ICHD-2 criteria include patients in equal proportions that fall into the persisting, remitting, and relapsing-remitting subgroups. Our criteria for NDPH-R should be considered for inclusion in ICHD-3. PMID:20421580

Clinical and prognostic subforms of new daily-persistent headache.

PubMed

Robbins, M S; Grosberg, B M; Napchan, U; Crystal, S C; Lipton, R B

2010-04-27

According to the International Classification of Headache Disorders (ICHD)-2, primary daily headaches unremitting from onset are classified as new daily-persistent headache (NDPH) only if migraine features are absent. When migraine features are present, classification is problematic. We developed a revised NDPH definition not excluding migraine features (NDPH-R), and applied it to consecutive patients seen at the Montefiore Headache Center. We divided this group into patients meeting ICHD-2 criteria (NDPH-ICHD) and those with too many migraine features for ICHD-2 (NDPH-mf). We compared clinical and demographic features in these groups, identifying 3 prognostic subgroups: persisting, remitting, and relapsing-remitting. Remitting and relapsing-remitting patients were combined into a nonpersisting group. Of 71 NDPH-R patients, 31 (43.7%) also met NDPH-ICHD-2 criteria. The NDPH-mf and the NDPH-ICHD-2 groups were similar in most clinical features though the NDPH-mf group was younger, included more women, and had a higher frequency of depression. The groups were similar in the prevalence of allodynia, triptan responsiveness, and prognosis. NDPH-R prognostic subforms were also very similar, although the persisting subform was more likely to be of white race, to have anxiety or depression, and to have a younger onset age. Current International Classification of Headache Disorders (ICHD)-2 criteria exclude the majority of patients with primary headache unremitting from onset. The proposed criteria for revised new daily-persistent headache definition not excluding migraine features (NDPH-R) classify these patients into a relatively homogeneous group based on demographics, clinical features, and prognosis. Both new daily-persistent headache with too many migraine features for ICHD-2 and new daily-persistent headache meeting ICHD-2 criteria include patients in equal proportions that fall into the persisting, remitting, and relapsing-remitting subgroups. Our criteria for NDPH-R should be considered for inclusion in ICHD-3.

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

PubMed

Olson, Heather E; Tambunan, Dimira; LaCoursiere, Christopher; Goldenberg, Marti; Pinsky, Rebecca; Martin, Emilie; Ho, Eugenia; Khwaja, Omar; Kaufmann, Walter E; Poduri, Annapurna

2015-09-01

Rett syndrome and neurodevelopmental disorders with features overlapping this syndrome frequently remain unexplained in patients without clinically identified MECP2 mutations. We recruited a cohort of 11 patients with features of Rett syndrome and negative initial clinical testing for mutations in MECP2. We analyzed their phenotypes to determine whether patients met formal criteria for Rett syndrome, reviewed repeat clinical genetic testing, and performed exome sequencing of the probands. Using 2010 diagnostic criteria, three patients had classical Rett syndrome, including two for whom repeat MECP2 gene testing had identified mutations. In a patient with neonatal onset epilepsy with atypical Rett syndrome, we identified a frameshift deletion in STXBP1. Among seven patients with features of Rett syndrome not fulfilling formal diagnostic criteria, four had suspected pathogenic mutations, one each in MECP2, FOXG1, SCN8A, and IQSEC2. MECP2 mutations are highly correlated with classical Rett syndrome. Genes associated with atypical Rett syndrome, epilepsy, or intellectual disability should be considered in patients with features overlapping with Rett syndrome and negative MECP2 testing. While most of the identified mutations were apparently de novo, the SCN8A variant was inherited from an unaffected parent mosaic for the mutation, which is important to note for counseling regarding recurrence risks. © 2015 Wiley Periodicals, Inc.

Mutations in Epilepsy and Intellectual Disability Genes in Patients with Features of Rett Syndrome

PubMed Central

Olson, Heather E.; Tambunan, Dimira; LaCoursiere, Christopher; Goldenberg, Marti; Pinsky, Rebecca; Martin, Emilie; Ho, Eugenia; Khwaja, Omar; Kaufmann, Walter E.; Poduri, Annapurna

2017-01-01

Rett syndrome and neurodevelopmental disorders with features overlapping this syndrome frequently remain unexplained in patients without clinically identified MECP2 mutations. We recruited a cohort of 11 patients with features of Rett syndrome and negative initial clinical testing for mutations in MECP2. We analyzed their phenotypes to determine whether patients met formal criteria for Rett syndrome, reviewed repeat clinical genetic testing, and performed exome sequencing of the probands. Using 2010 diagnostic criteria, three patients had classical Rett syndrome, including two for whom repeat MECP2 gene testing had identified mutations. In a patient with neonatal onset epilepsy with atypical Rett syndrome, we identified a frameshift deletion in STXBP1. Among seven patients with features of Rett syndrome not fulfilling formal diagnostic criteria, four had suspected pathogenic mutations, one each in MECP2, FOXG1, SCN8A, and IQSEC2. MECP2 mutations are highly correlated with classical Rett syndrome. Genes associated with atypical Rett syndrome, epilepsy, or intellectual disability should be considered in patients with features overlapping with Rett syndrome and negative MECP2 testing. While most of the identified mutations were apparently de novo, the SCN8A variant was inherited from an unaffected parent mosaic for the mutation, which is important to note for counseling regarding recurrence risks. PMID:25914188

Which ante mortem clinical features predict progressive supranuclear palsy pathology?

PubMed

Respondek, Gesine; Kurz, Carolin; Arzberger, Thomas; Compta, Yaroslau; Englund, Elisabet; Ferguson, Leslie W; Gelpi, Ellen; Giese, Armin; Irwin, David J; Meissner, Wassilios G; Nilsson, Christer; Pantelyat, Alexander; Rajput, Alex; van Swieten, John C; Troakes, Claire; Josephs, Keith A; Lang, Anthony E; Mollenhauer, Brit; Müller, Ulrich; Whitwell, Jennifer L; Antonini, Angelo; Bhatia, Kailash P; Bordelon, Yvette; Corvol, Jean-Christophe; Colosimo, Carlo; Dodel, Richard; Grossman, Murray; Kassubek, Jan; Krismer, Florian; Levin, Johannes; Lorenzl, Stefan; Morris, Huw; Nestor, Peter; Oertel, Wolfgang H; Rabinovici, Gil D; Rowe, James B; van Eimeren, Thilo; Wenning, Gregor K; Boxer, Adam; Golbe, Lawrence I; Litvan, Irene; Stamelou, Maria; Höglinger, Günter U

2017-07-01

Progressive supranuclear palsy (PSP) is a neuropathologically defined disease presenting with a broad spectrum of clinical phenotypes. To identify clinical features and investigations that predict or exclude PSP pathology during life, aiming at an optimization of the clinical diagnostic criteria for PSP. We performed a systematic review of the literature published since 1996 to identify clinical features and investigations that may predict or exclude PSP pathology. We then extracted standardized data from clinical charts of patients with pathologically diagnosed PSP and relevant disease controls and calculated the sensitivity, specificity, and positive predictive value of key clinical features for PSP in this cohort. Of 4166 articles identified by the database inquiry, 269 met predefined standards. The literature review identified clinical features predictive of PSP, including features of the following 4 functional domains: ocular motor dysfunction, postural instability, akinesia, and cognitive dysfunction. No biomarker or genetic feature was found reliably validated to predict definite PSP. High-quality original natural history data were available from 206 patients with pathologically diagnosed PSP and from 231 pathologically diagnosed disease controls (54 corticobasal degeneration, 51 multiple system atrophy with predominant parkinsonism, 53 Parkinson's disease, 73 behavioral variant frontotemporal dementia). We identified clinical features that predicted PSP pathology, including phenotypes other than Richardson's syndrome, with varying sensitivity and specificity. Our results highlight the clinical variability of PSP and the high prevalence of phenotypes other than Richardson's syndrome. The features of variant phenotypes with high specificity and sensitivity should serve to optimize clinical diagnosis of PSP. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

The development of agoraphobia is associated with the symptoms and location of a patient's first panic attack.

PubMed

Hara, Naomi; Nishimura, Yukika; Yokoyama, Chika; Inoue, Ken; Nishida, Atsushi; Tanii, Hisashi; Okada, Motohiro; Kaiya, Hisanobu; Okazaki, Yuji

2012-04-11

The place where a patient experiences his/her first panic attack (FPA) may be related to their agoraphobia later in life. However, no investigations have been done into the clinical features according to the place where the FPA was experienced. In particular, there is an absence of detailed research examining patients who experienced their FPA at home. In this study, patients were classified by the location of their FPA and the differences in their clinical features were explored (e.g., symptoms of FPA, frequency of agoraphobia, and severity of FPA). The subjects comprised 830 panic disorder patients who were classified into 5 groups based on the place of their FPA (home, school/office, driving a car, in a public transportation vehicle, outside of home), The clinical features of these patients were investigated. Additionally, for panic disorder patients with agoraphobia at their initial clinic visit, the clinical features of patients who experienced their FPA at home were compared to those who experienced their attack elsewhere. In comparison of the FPAs of the 5 groups, significant differences were seen among the 7 descriptors (sex ratio, drinking status, smoking status, severity of the panic attack, depression score, ratio of agoraphobia, and degree of avoidance behavior) and 4 symptoms (sweating, chest pain, feeling dizzy, and fear of dying). The driving and public transportation group patients showed a higher incidence of co-morbid agoraphobia than did the other groups. Additionally, for panic disorder patients with co-morbid agoraphobia, the at-home group had a higher frequency of fear of dying compared to the patients in the outside-of-home group and felt more severe distress elicited by their FPA. The results of this study suggest that the clinical features of panic disorder patients vary according to the place of their FPA. The at-home group patients experienced "fear of dying" more frequently and felt more distress during their FPA than did the subjects in the other groups. These results indicate that patients experiencing their FPA at home should be treated with a focus on the fear and distress elicited by the attack.

The development of agoraphobia is associated with the symptoms and location of a patient's first panic attack

PubMed Central

2012-01-01

Background The place where a patient experiences his/her first panic attack (FPA) may be related to their agoraphobia later in life. However, no investigations have been done into the clinical features according to the place where the FPA was experienced. In particular, there is an absence of detailed research examining patients who experienced their FPA at home. In this study, patients were classified by the location of their FPA and the differences in their clinical features were explored (e.g., symptoms of FPA, frequency of agoraphobia, and severity of FPA). Methods The subjects comprised 830 panic disorder patients who were classified into 5 groups based on the place of their FPA (home, school/office, driving a car, in a public transportation vehicle, outside of home), The clinical features of these patients were investigated. Additionally, for panic disorder patients with agoraphobia at their initial clinic visit, the clinical features of patients who experienced their FPA at home were compared to those who experienced their attack elsewhere. Results In comparison of the FPAs of the 5 groups, significant differences were seen among the 7 descriptors (sex ratio, drinking status, smoking status, severity of the panic attack, depression score, ratio of agoraphobia, and degree of avoidance behavior) and 4 symptoms (sweating, chest pain, feeling dizzy, and fear of dying). The driving and public transportation group patients showed a higher incidence of co-morbid agoraphobia than did the other groups. Additionally, for panic disorder patients with co-morbid agoraphobia, the at-home group had a higher frequency of fear of dying compared to the patients in the outside-of-home group and felt more severe distress elicited by their FPA. Conclusion The results of this study suggest that the clinical features of panic disorder patients vary according to the place of their FPA. The at-home group patients experienced "fear of dying" more frequently and felt more distress during their FPA than did the subjects in the other groups. These results indicate that patients experiencing their FPA at home should be treated with a focus on the fear and distress elicited by the attack. PMID:22494552

Duane retraction syndrome on the Arabian Peninsula.

PubMed

Khan, Arif O; Oystreck, Darren T; Wilken, Keith; Akbar, Fatima

2007-01-01

To describe the clinical features of patients from the Arabian Peninsula with Duane retraction syndrome (DRS). Retrospective chart review of patients referred to the King Khaled Eye Specialist Hospital in Riyadh, Saudi Arabia from 1982 to 2003 with a diagnosis of DRS. Patients having had prior strabismus surgery were excluded. Of 404 DRS patients, 347 (86%) were unilateral, 57 (14%) were bilateral, and 111 (27%) had amblyopia. There were 221 (55%) females and 182 (45%) males. The Huber classification was as follows: 315 (78%) Type I, 16 (4%) Type II, and 77 (19%) Type III. Of the 57 bilateral cases, 25 (44%) were female and 32 (56%) were male. Overall, the clinical features of DRS patients referred to a Riyadh eye hospital are similar to those reported in series throughout the world. However, our referred bilateral DRS patients are more commonly male. The clinical features of bilateral DRS deserve further worldwide study.

Clinical features of olfactory disorders in patients seeking medical consultation

PubMed Central

Chen, Guowei; Wei, Yongxiang; Miao, Xutao; Li, Kunyan; Ren, Yuanyuan; Liu, Jia

2013-01-01

Background Olfactory disorders are common complaints in ENT clinics. We investigated causes and relevant features of olfactory disorders and the need for gustatory testing in patients with olfactory dysfunction. Material/Methods A total of 140 patients seeking medical consultations were enrolled. All patients were asked about their olfactory disorders in a structured interview of medical history and underwent thorough otolaryngologic examinations and imaging of the head. Results Causes of olfactory disorders were classified as: upper respiratory tract infection (URTI), sinonasal diseases (NSD), head trauma, idiopathic, endoscopic sinus surgery, congenital anosmia, and other causes. Each of the various causes of olfactory dysfunction had its own distinct clinical features. Nineteen of 54 patients whose gustation was assessed had gustatory disorders. Conclusions The leading causes of olfactory dysfunction were URTI, NSD, head trauma, and idiopathic causes. Gustatory disorders were fairly common in patients with olfactory dysfunction. High priority should be given to complaints of olfactory disorders. PMID:23748259

The clinical features of angular cheilitis occurring during orthodontic treatment: a multi-centre observational study.

PubMed

Cross, David; Eide, May L; Kotinas, Anastasios

2010-06-01

To report the prevalence and clinical features of angular cheilitis occurring in patients undergoing orthodontic treatment. Cross-sectional, observational study. Three centres were involved; Glasgow Dental Hospital and two specialist orthodontic practices, one in Scotland and one in Greece. Six hundred and sixty consecutive patients undergoing orthodontic treatment were examined over a 9 month period. The presence and absence of angular cheilitis was recorded. A six-point clinical scale was used to describe the clinical features of angular cheilitis when present. Chi-squared tests were used to investigate the association between the presence of angular cheilitis and oral hygiene level/appliance type. Eleven per cent of orthodontic patients in this Western European population, showed signs of angular cheilitis. No correlation was found between the presence of angular cheilitis and gender. Good oral hygiene was associated with a reduced prevalence (P<0.01). Angular cheilitis is a multifactorial condition that can occur in a small percentage of patients during orthodontic treatment. Good oral hygiene may be associated with a reduced risk. A new clinical grade of angular cheilitis is suggested that may help future research. Further studies are required to investigate the microbiological features associated with angular cheilitis occurring in orthodontic patients, as well as associations with medical conditions, such as asthma.

Clinical Features of Idiopathic Parotid Pain Triggered by the First Bite in Japanese Patients with Type 2 Diabetes: A Case Study of Nine Patients.

PubMed

Chiba, Masatoshi; Hirotani, Hiroaki; Takahashi, Tetsu

2018-01-01

First bite syndrome, characterized by pain in the parotid region after the first bite of each meal, predominantly develops in patients who have had head and neck surgery. Idiopathic parotid pain (IPP) that mimics first bite syndrome may present in patients without a history of surgery or evidence of an underlying tumor, but its clinical features are unclear. This study characterized the clinical characteristics of IPP in patients with diabetes. A retrospective case review involving the clinical findings and pain characteristics of nine patients with IPP and diabetes who presented to our department between 2013 and 2016. All the patients were men diagnosed with type 2 diabetes (median age, 43 years). IPP developed unilaterally in seven patients and bilaterally in two. The median intensity of the first bite pain was 8 on a numerical rating scale of 0-10. The trigger factor was gustatory stimuli, and the trigger area was the posterior section of the tongue. Postprandial pain occurred within 1-10 min after meals in six patients. IPP may be considered a separate disorder, in which the pain characteristics are similar to those of first bite syndrome but the clinical features and pathophysiology are different.

Clinical Features of Idiopathic Parotid Pain Triggered by the First Bite in Japanese Patients with Type 2 Diabetes: A Case Study of Nine Patients

PubMed Central

Hirotani, Hiroaki; Takahashi, Tetsu

2018-01-01

Objective First bite syndrome, characterized by pain in the parotid region after the first bite of each meal, predominantly develops in patients who have had head and neck surgery. Idiopathic parotid pain (IPP) that mimics first bite syndrome may present in patients without a history of surgery or evidence of an underlying tumor, but its clinical features are unclear. This study characterized the clinical characteristics of IPP in patients with diabetes. Study Design A retrospective case review involving the clinical findings and pain characteristics of nine patients with IPP and diabetes who presented to our department between 2013 and 2016. Results All the patients were men diagnosed with type 2 diabetes (median age, 43 years). IPP developed unilaterally in seven patients and bilaterally in two. The median intensity of the first bite pain was 8 on a numerical rating scale of 0–10. The trigger factor was gustatory stimuli, and the trigger area was the posterior section of the tongue. Postprandial pain occurred within 1–10 min after meals in six patients. Conclusions IPP may be considered a separate disorder, in which the pain characteristics are similar to those of first bite syndrome but the clinical features and pathophysiology are different. PMID:29796314

Clinical characteristics and outcomes of septic bursitis.

PubMed

Lieber, Sarah B; Fowler, Mary Louise; Zhu, Clara; Moore, Andrew; Shmerling, Robert H; Paz, Ziv

2017-12-01

Limited data guide practice in evaluation and treatment of septic bursitis. We aimed to characterize clinical characteristics, microbiology, and outcomes of patients with septic bursitis stratified by bursal involvement, presence of trauma, and management type. We conducted a retrospective cohort study of adult patients admitted to a single center from 1998 to 2015 with culture-proven olecranon and patellar septic bursitis. Baseline characteristics, clinical features, microbial profiles, operative interventions, hospitalization lengths, and 60-day readmission rates were determined. Patients were stratified by bursitis site, presence or absence of trauma, and operative or non-operative management. Of 44 cases of septic bursitis, patients with olecranon and patellar bursitis were similar with respect to age, male predominance, and frequency of bursal trauma; patients managed operatively were younger (p = 0.05). Clinical features at presentation and comorbidities were similar despite bursitis site, history of trauma, or management. The most common organism isolated from bursal fluid was Staphylococcus aureus. Patients managed operatively were discharged to rehabilitation less frequently (p = 0.04). This study of septic bursitis is among the largest reported. We were unable to identify presenting clinical features that differentiated patients treated surgically from those treated conservatively. There was no clear relationship between preceding trauma or bursitis site and clinical course, management, or outcomes. Patients with bursitis treated surgically were younger. Additional study is needed to identify patients who would benefit from early surgical intervention for septic bursitis.

Anonymization of electronic medical records for validating genome-wide association studies

PubMed Central

Loukides, Grigorios; Gkoulalas-Divanis, Aris; Malin, Bradley

2010-01-01

Genome-wide association studies (GWAS) facilitate the discovery of genotype–phenotype relations from population-based sequence databases, which is an integral facet of personalized medicine. The increasing adoption of electronic medical records allows large amounts of patients’ standardized clinical features to be combined with the genomic sequences of these patients and shared to support validation of GWAS findings and to enable novel discoveries. However, disseminating these data “as is” may lead to patient reidentification when genomic sequences are linked to resources that contain the corresponding patients’ identity information based on standardized clinical features. This work proposes an approach that provably prevents this type of data linkage and furnishes a result that helps support GWAS. Our approach automatically extracts potentially linkable clinical features and modifies them in a way that they can no longer be used to link a genomic sequence to a small number of patients, while preserving the associations between genomic sequences and specific sets of clinical features corresponding to GWAS-related diseases. Extensive experiments with real patient data derived from the Vanderbilt's University Medical Center verify that our approach generates data that eliminate the threat of individual reidentification, while supporting GWAS validation and clinical case analysis tasks. PMID:20385806

Comparison between the clinical and laboratory features of enterovirus and West Nile virus infections.

PubMed

Middleton, Joanna; Lee, Bonita E; Fox, Julie D; Tilley, Peter A G; Robinson, Joan L

2008-07-01

The seasonality and clinical features of enterovirus (EV) infections overlap with those of West Nile virus (WNV). The purpose of this study was to determine the frequency of EV detection in patients being tested for WNV and to look for features that could be used to distinguish between infections with these two viruses. Nucleic acid amplification testing (NAT) for EV was performed on all plasma samples submitted for WNV testing in 2003 and 2004. Demographics, clinical features, and laboratory results for patients with documented EV viremia were compared with those for patients with confirmed WNV infection (as diagnosed by NAT and/or serology). NAT for EV was positive on 50 of 1,784 serum or plasma samples submitted for WNV testing (2.8%). Clinical information was compared for 45 patients with EV viremia and 214 patients with WNV infection. Patients with EV viremia were younger and less likely to have heart disease or a travel history (P<0.05). The EV viremia cases were distributed throughout the whole province while the WNV cases were predominantly in the southern part of the province. Symptoms were remarkably similar, although patients with WNV infection were more likely to have anorexia, dizziness, rash, and cranial nerve palsy (P<0.05). There are no consistent differences in the features of WNV infection and enteroviral viremia so diagnostic tests for both viruses should be performed when WNV is present in local mosquitoes.

MIBG avidity correlates with clinical features, tumor biology, and outcomes in neuroblastoma: A report from the Children's Oncology Group.

PubMed

DuBois, Steven G; Mody, Rajen; Naranjo, Arlene; Van Ryn, Collin; Russ, Douglas; Oldridge, Derek; Kreissman, Susan; Baker, David L; Parisi, Marguerite; Shulkin, Barry L; Bai, Harrison; Diskin, Sharon J; Batra, Vandana; Maris, John M; Park, Julie R; Matthay, Katherine K; Yanik, Gregory

2017-11-01

Prior studies suggest that neuroblastomas that do not accumulate metaiodobenzylguanidine (MIBG) on diagnostic imaging (MIBG non-avid) may have more favorable features compared with MIBG avid tumors. We compared clinical features, biologic features, and clinical outcomes between patients with MIBG nonavid and MIBG avid neuroblastoma. Patients had metastatic high- or intermediate-risk neuroblastoma and were treated on Children's Oncology Group protocols A3973 or A3961. Comparisons of clinical and biologic features according to MIBG avidity were made with chi-squared or Fisher exact tests. Event-free (EFS) and overall (OS) survival compared using log-rank tests and modeled using Cox models. Thirty of 343 patients (8.7%) had MIBG nonavid disease. Patients with nonavid tumors were less likely to have adrenal primary tumors (34.5 vs. 57.2%; P = 0.019), bone metastases (36.7 vs. 61.7%; P = 0.008), or positive urine catecholamines (66.7 vs. 91.0%; P < 0.001) compared with patients with MIBG avid tumors. Nonavid tumors were more likely to be MYCN amplified (53.8 vs. 32.6%; P = 0.030) and had lower norepinephrine transporter expression. Patients with MIBG nonavid disease had a 5-year EFS of 50.0% compared with 38.7% for patients with MIBG avid disease (P = 0.028). On multivariate testing in high-risk patients, MIBG avidity was the sole adverse prognostic factor for EFS identified (hazard ratio 1.77; 95% confidence interval 1.04-2.99; P = 0.034). Patients with MIBG nonavid neuroblastoma have lower rates of adrenal primary tumors, bone metastasis, and catecholamine secretion. Despite being more likely to have MYCN-amplified tumors, these patients have superior outcomes compared with patients with MIBG avid disease. © 2017 Wiley Periodicals, Inc.

Lumbar spinal canal MRI diameter is smaller in herniated disc cauda equina syndrome patients

PubMed Central

Kruit, Mark C.; Peul, Wilco C.; Vleggeert-Lankamp, Carmen L. A.

2017-01-01

Introduction Correlation between magnetic resonance imaging (MRI) and clinical features in cauda equina syndrome (CES) is unknown; nor is known whether there are differences in MRI spinal canal size between lumbar herniated disc patients with CES versus lumbar herniated discs patients without CES, operated for sciatica. The aims of this study are 1) evaluating the association of MRI features with clinical presentation and outcome of CES and 2) comparing lumbar spinal canal diameters of lumbar herniated disc patients with CES versus lumbar herniated disc patients without CES, operated because of sciatica. Methods MRIs of CES patients were assessed for the following features: level of disc lesion, type (uni- or bilateral) and severity of caudal compression. Pre- and postoperative clinical features (micturition dysfunction, defecation dysfunction, altered sensation of the saddle area) were retrieved from the medical files. In addition, anteroposterior (AP) lumbar spinal canal diameters of CES patients were measured at MRI. AP diameters of lumbar herniated disc patients without CES, operated for sciatica, were measured for comparison. Results 48 CES patients were included. At MRI, bilateral compression was seen in 82%; complete caudal compression in 29%. MRI features were not associated with clinical presentation nor outcome. AP diameter was measured for 26 CES patients and for 31 lumbar herniated disc patients without CES, operated for sciatica. Comparison displayed a significant smaller AP diameter of the lumbar spinal canal in CES patients (largest p = 0.002). Compared to average diameters in literature, diameters of CES patients were significantly more often below average than that of the sciatica patients (largest p = 0.021). Conclusion This is the first study demonstrating differences in lumbar spinal canal size between lumbar herniated disc patients with CES and lumbar herniated disc patients without CES, operated for sciatica. This finding might imply that lumbar herniated disc patients with a relative small lumbar spinal canal might need to be approached differently in managing complaints of herniated disc. Since the number of studied patients is relatively small, further research should be conducted before clinical consequences are considered. PMID:29023556

The clinical and cultural factors in classifying low back pain patients within Greece: a qualitative exploration of Greek health professionals.

PubMed

Billis, Evdokia V; McCarthy, Christopher J; Stathopoulos, Ioannis; Kapreli, Eleni; Pantzou, Paulina; Oldham, Jacqueline A

2007-06-01

Identifying homogenous subgroups of low back pain (LBP) patients is considered a priority in musculoskeletal rehabilitation and is believed to enhance clinical outcomes. In order to achieve this, the specific features of each subgroup need to be identified. The aim of this study was to develop a list of clinical and cultural features that are included in the assessment of LBP patients in Greece, among health professionals. This 'list' will be, utilized in a clinical study for developing LBP subgroups. Three focus groups were conducted, each one comprising health professionals with homogenous characteristics and all coordinated by a single moderator. There were: 11 physiotherapists (PTs) with clinical experience in LBP patients, seven PTs specialized in LBP management, and five doctors with a particular spinal interest. The focus of discussions was to develop a list of clinical and cultural features that were important in the examination of LBP. Content analysis was performed by two researchers. Clinicians and postgraduates developed five categories within the History (Present Symptoms, History of Symptoms, Function, Psychosocial, Medical History) and six categories within the Physical Examination (Observation, Neurological Examination, Active and Passive Movements, Muscle Features and Palpation). The doctors identified four categories in History (Symptomatology, Function, Psychosocial, Medical History) and an additional in Physical Examination (Special Tests). All groups identified three cultural categories; Attitudes of Health Professionals, Patients' Attitudes and Health System influences. An extensive Greek 'list' of clinical and cultural features was developed from the groups' analysis. Although similarities existed in most categories, there were several differences across the three focus groups which will be discussed.

Syphilitic punctate inner retinitis in immunocompetent gay men.

PubMed

Wickremasinghe, Sanjeewa; Ling, Cecilia; Stawell, Richard; Yeoh, Jonathan; Hall, Anthony; Zamir, Ehud

2009-06-01

To describe the features of an unusual syphilitic uveitis syndrome in a cluster of homosexual patients. Retrospective case series. Five consecutive patients diagnosed with syphilitic retinitis in our Melbourne uveitis clinic over a period of 8 months. The case notes of patients diagnosed with syphilitic retinitis were reviewed and the clinical features are presented and discussed. Description of retinal findings and documentation of any associated sequelae. All patients were homosexual men. Two were human immunodeficiency virus positive. None of the patients had been previously diagnosed with syphilis, although 3 presented with systemic symptoms and signs of secondary syphilis. All patients had marked anterior uveitis and vitritis. All patients had acute retinal arteriolitis and inner retinitis, with distinctive, inner retinal and preretinal white dots. These retinal findings were remarkably similar in all patients, and resolved with little or no sequelae after standard systemic treatment for syphilis, combined with oral prednisolone. Syphilitic retinitis may be an increasingly common clinical problem, reflecting the growing incidence of syphilis among homosexual men in Australia. Our patients showed stereotypical ocular and systemic features, which are useful in differentiating this condition clinically from other types of acute posterior uveitis, such as necrotizing viral retinitis. Proprietary or commercial disclosure may be found after the references.

Co-circulation of multiple hemorrhagic fever diseases with distinct clinical characteristics in Dandong, China.

PubMed

Chen, Zhi-Hai; Qin, Xin-Cheng; Song, Rui; Shen, Yi; Chen, Xiao-Ping; Wang, Wen; Zhao, Yong-Xiang; Zhang, Jing-Shan; He, Jin-Rong; Li, Ming-Hui; Zhao, Xue-Hua; Liu, De-Wei; Fu, Xiao-Kang; Tian, Di; Li, Xing-Wang; Xu, Jianguo; Plyusnin, Alexander; Holmes, Edward C; Zhang, Yong-Zhen

2014-01-01

Hemorrhagic fevers (HF) caused by viruses and bacteria are a major public health problem in China and characterized by variable clinical manifestations, such that it is often difficult to achieve accurate diagnosis and treatment. The causes of HF in 85 patients admitted to Dandong hospital, China, between 2011-2012 were determined by serological and PCR tests. Of these, 34 patients were diagnosed with Huaiyangshan hemorrhagic fever (HYSHF), 34 with Hemorrhagic Fever with Renal Syndrome (HFRS), one with murine typhus, and one with scrub typhus. Etiologic agents could not be determined in the 15 remaining patients. Phylogenetic analyses of recovered bacterial and viral sequences revealed that the causative infectious agents were closely related to those described in other geographical regions. As these diseases have no distinctive clinical features in their early stage, only 13 patients were initially accurately diagnosed. The distinctive clinical features of HFRS and HYSHF developed during disease progression. Enlarged lymph nodes, cough, sputum, and diarrhea were more common in HYSHF patients, while more HFRS cases presented with headache, sore throat, oliguria, percussion pain kidney area, and petechiae. Additionally, HYSHF patients displayed significantly lower levels of white blood cells (WBC), higher levels of creations kinase (CK) and alanine aminotransferase (ALT), while HFRS patients presented with an elevation of blood urea nitrogen (BUN) and creatinine (CREA). These clinical features will assist in the accurate diagnosis of both HYSHF and HFRS. Overall, our data reveal the complexity of pathogens causing HFs in a single Chinese hospital, and highlight the need for accurate early diagnosis and a better understanding of their distinctive clinical features.

SEGMENTING CT PROSTATE IMAGES USING POPULATION AND PATIENT-SPECIFIC STATISTICS FOR RADIOTHERAPY.

PubMed

Feng, Qianjin; Foskey, Mark; Tang, Songyuan; Chen, Wufan; Shen, Dinggang

2009-08-07

This paper presents a new deformable model using both population and patient-specific statistics to segment the prostate from CT images. There are two novelties in the proposed method. First, a modified scale invariant feature transform (SIFT) local descriptor, which is more distinctive than general intensity and gradient features, is used to characterize the image features. Second, an online training approach is used to build the shape statistics for accurately capturing intra-patient variation, which is more important than inter-patient variation for prostate segmentation in clinical radiotherapy. Experimental results show that the proposed method is robust and accurate, suitable for clinical application.

SEGMENTING CT PROSTATE IMAGES USING POPULATION AND PATIENT-SPECIFIC STATISTICS FOR RADIOTHERAPY

PubMed Central

Feng, Qianjin; Foskey, Mark; Tang, Songyuan; Chen, Wufan; Shen, Dinggang

2010-01-01

This paper presents a new deformable model using both population and patient-specific statistics to segment the prostate from CT images. There are two novelties in the proposed method. First, a modified scale invariant feature transform (SIFT) local descriptor, which is more distinctive than general intensity and gradient features, is used to characterize the image features. Second, an online training approach is used to build the shape statistics for accurately capturing intra-patient variation, which is more important than inter-patient variation for prostate segmentation in clinical radiotherapy. Experimental results show that the proposed method is robust and accurate, suitable for clinical application. PMID:21197416

Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan.

PubMed

Yamaguchi, Hiroki; Sakaguchi, Hirotoshi; Yoshida, Kenichi; Yabe, Miharu; Yabe, Hiromasa; Okuno, Yusuke; Muramatsu, Hideki; Takahashi, Yoshiyuki; Yui, Shunsuke; Shiraishi, Yuichi; Chiba, Kenichi; Tanaka, Hiroko; Miyano, Satoru; Inokuchi, Koiti; Ito, Etsuro; Ogawa, Seishi; Kojima, Seiji

2015-11-01

Dyskeratosis congenita (DKC) is an inherited bone marrow failure (BMF) syndrome typified by reticulated skin pigmentation, nail dystrophy, and mucosal leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is considered to be a severe form of DKC. Unconventional forms of DKC, which develop slowly in adulthood but without the physical anomalies characteristic of DKC (cryptic DKC), have been reported. Clinical and genetic features of DKC have been investigated in Caucasian, Black, and Hispanic populations, but not in Asian populations. The present study aimed to determine the clinical and genetic features of DKC, HHS, and cryptic DKC among Japanese patients. We analyzed 16 patients diagnosed with DKC, three patients with HHS, and 15 patients with cryptic DKC. We found that platelet count was significantly more depressed than neutrophil count or hemoglobin value in DKC patients, and identified DKC patients with large deletions in the telomerase reverse transcriptase and cryptic DKC patients with RTEL1 mutations on both alleles. This led to some patients previously considered to have unclassifiable BMF being diagnosed with cDKC through identification of new gene mutations. It thus seems important from a clinical viewpoint to re-examine the clinical characteristics, frequency of genetic mutations, and treatment efficacy in DKC, HHS, and cDKC.

Duane's retraction syndrome: its sensory features.

PubMed

Tomaç, Suhan; Mutlu, Fatih Mehmet; Altinsoy, Halil Ibrahim

2007-11-01

To investigate binocularity in Duane's retraction syndrome (DRS) and to evaluate whether or not there is a relationship between the sensory and clinical features of the syndrome. Clinical and sensory findings of 29 patients with DRS were recorded. Binocularity was tested with the Bagolini glasses (BG), Worth four-dot (W4D), TNO and the stereo-fly plate of the Titmus test. Twenty-four (83%) patients showed fusion with the BG at near and 23 (79%) had fusion at distance. With the W4D, 23 (79%) patients had fusion at near and 19 (65%) had fusion at distance. Seven (24%) patients demonstrated normal stereoacuity, 15 (52%) had reduced stereoacuity and the remaining seven (24%) patients had no measurable stereoacuity. In patients without stereoacuity, amblyopia (p < 0.001), type 2 and 3 DRS (p = 0.031) and exotropia (p = 0.003) in primary position were more common than in those with reduced or with normal stereoacuity. Restriction of ocular ductions was also more severe in patients without stereoacuity than in those with reduced or normal stereoacuity (p = 0.019, p = 0.016). Patients with type 2 and 3 DRS were significantly more likely to have amblyopia (p = 0.037), large-angle heterotropia (p = 0.005) in primary position, upshoot or downshoot (p = 0.010) than those with type 1 DRS. Although approximately 75% of DRS patients had fusion and measurable stereoacuity, only 25% demonstrated normal binocularity. This report provides new data on the relationship of sensory features to most of the clinical findings of this syndrome. Sensory features, as well as most clinical features of the syndrome, are better in patients with type 1 DRS.

Plaque disruption by coronary computed tomographic angiography in stable patients vs. acute coronary syndrome: a feasibility study.

PubMed

Bilolikar, Abhay N; Goldstein, James A; Madder, Ryan D; Chinnaiyan, Kavitha M

2016-03-01

This study was designed to determine whether coronary CT angiography (CTA) can detect features of plaque disruption in clinically stable patients and to compare lesion prevalence and features between stable patients and those with acute coronary syndrome (ACS). We retrospectively identified patients undergoing CTA, followed by invasive coronary angiography (ICA) within 60 days. Quantitative 3-vessel CTA lesion analysis was performed on all plaques ≥25% stenosis to assess total plaque volume, low attenuation plaque (LAP, <50 HU) volume, and remodelling index. Plaques were qualitatively assessed for CTA features of disruption, including ulceration and intra-plaque dye penetration (IDP). ICA was employed as a reference standard for disruption. A total of 145 (94 ACS and 51 stable) patients were identified. By CTA, plaque disruption was evident in 77.7% of ACS cases. Although more common among those with ACS, CTA also detected plaque disruption in 37.3% of clinically stable patients (P < 0.0001). Clinically stable patients commonly manifest plaques with features of disruption as determined by CTA. Though the prevalence of plaque disruption is less than patients with ACS, these findings support the concept that some clinically stable patients may harbour 'silent' disrupted plaques. These findings may have implications for detection of 'at risk' plaques and patients. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2015. For permissions please email: journals.permissions@oup.com.

Cluster headache in Greece: an observational clinical and demographic study of 302 patients.

PubMed

Vikelis, Michail; Rapoport, Alan M

2016-12-01

Cluster headache (CH) is considered the most excruciating primary headache syndrome; although much less prevalent than migraine, it is not rare as it affects more than 1/1000 people. While its clinical presentation is considered stereotypic, atypical features are often encountered. Internationally, cluster headache is often misdiagnosed, undertreated and mistreated. We prospectively studied 302 CH patients, all examined by the same headache specialist. The aim of our study was to describe the demographic and clinical characteristics of CH patients in Greece and draw attention to under-management, under-treatment and mis-treatment often encountered in clinical practice; our purpose is to improve recognition and successful treatment of cluster patients by Greek neurologists and other physicians. In the present cohort, clinical characteristics of CH are similar to those described in other populations. Beyond the standard clinical characteristics, features like side shifts (12.6 %), location of maximal pain intensity outside the first trigeminal branch division (10.2 %), lack of autonomic features (7 %), presence of associated features of migraine and aggravation by physical activity (10 %) were encountered. Four out of five patients had consulted a physician prior to diagnosis. The median number of physicians seen prior to diagnosis was 3 and the median time to diagnosis was 5 years, though it improved for patients with recent onset. Chronic cluster headache, side shifts, pain location in the face or the back of the head and aggravation by physical activity were found, among others, to be statistically significantly related to delayed diagnosis or more physicians seen prior to diagnosis. Even properly diagnosed patients were often undertreated or mistreated. Cluster headache, in a large cohort of Greek patients, has the same phenotypic characteristics as described internationally. Uncommon clinical features do exist and physicians should be aware of those, since they may eventuate in diagnostic problems. Most CH patients in Greece remain misdiagnosed or undiagnosed for rather lengthy periods of time, but time to diagnosis has improved recently. Even after diagnosis, treatment received was suboptimal.

Sensory chronic inflammatory demyelinating polyneuropathy: an under-recognized entity?

PubMed

Ayrignac, Xavier; Viala, Karine; Koutlidis, Régine Morizot; Taïeb, Guillaume; Stojkovic, Tanya; Musset, Lucille; Léger, Jean-Marc; Fournier, Emmanuel; Maisonobe, Thierry; Bouche, Pierre

2013-11-01

Sensory chronic inflammatory demyelinating polyneuropathy (CIDP) can be difficult to diagnose. We report 22 patients with chronic sensory polyneuropathy with ≥1 clinical sign atypical for chronic idiopathic axonal polyneuropathy (CIAP) but no electrodiagnostic criteria for CIDP. Clinical signs atypical for CIAP were: sensory ataxia (59%), generalized areflexia (36%), cranial nerve involvement (32%), rapid upper limb involvement (40%), and age at onset ≤55 years (50%). Additional features were: normal sensory nerve action potentials (36%), abnormal radial/normal sural pattern (23%), abnormal somatosensory evoked potentials (SSEPs) (100%), elevated cerebrospinal fluid (CSF) protein (73%), and demyelinating features in 5/7 nerve biopsies. Over 90% of patients responded to immunotherapy. We conclude that all patients had sensory CIDP. Sensory CIDP patients can be misdiagnosed as having CIAP. If atypical clinical/electrophysiologic features are present, we recommend performing SSEPs and CSF examination. Nerve biopsy should be restricted to disabled patients if other examinations are inconclusive. Copyright © 2013 Wiley Periodicals, Inc.

Capgras syndrome: a review of the neurophysiological correlates and presenting clinical features in cases involving physical violence.

PubMed

Bourget, Dominique; Whitehurst, Laurie

2004-11-01

Acts of violence have been frequently reported in cases of Capgras syndrome (CS), a misidentification syndrome characterized by the delusional belief that imposters have replaced people familiar to the individual. CS has been observed in many neuropsychiatric and organic disorders, and neuroimaging studies indicate an association between CS and right hemisphere abnormalities. However, CS has received limited attention from a forensic psychiatric perspective. We propose that elucidating demographic and clinical features noted in cases of violence secondary to CS may highlight important factors in the progression of CS to violence. We review the neurophysiological correlates and clinical factors observed in CS and present characteristics of a series of cases that demonstrate the potential of CS patients for severe physical violence toward the misidentified person. For patients with CS involving assault, we present and discuss commonly reported demographic and clinical features that may contribute to an increased risk for violence. An understanding of the presenting clinical features of CS resulting in aggressive acts may assist clinicians to assess the potential for violence in these patients.

Distinct Clinical Features and Outcomes in Motor Neuron Disease Associated with Behavioural Variant Frontotemporal Dementia.

PubMed

Cortés-Vicente, Elena; Turon-Sans, Janina; Gelpi, Ellen; Clarimón, Jordi; Borrego-Écija, Sergi; Dols-Icardo, Oriol; Illán-Gala, Ignacio; Lleó, Alberto; Illa, Isabel; Blesa, Rafael; Al-Chalabi, Ammar; Rojas-García, Ricard

2018-06-08

To determine the motor phenotype and outcome in a clinically ascertained group of patients with motor neuron disease (MND) and frontotemporal dementia (FTD). This is an observational retrospective clinical study of patients fulfilling the clinical criteria for MND-FTD. A contemporary series of patients with amyotrophic lateral sclerosis (ALS) without dementia were included for comparison. Demographic, clinical, genetic, and neuropathological data were collected. A descriptive and comparative data analysis was performed. We identified 22 patients with MND-FTD. Selective distal upper limb muscle weakness and atrophy with non-significant lower limb weakness during follow-up was the most frequent motor pattern, present in 18 patients - in 15 of them associated with severe dysphagia. Aspiration pneumonia was the most common cause of death (12/19; 63%) despite gastrostomy. One-third of the patients did not develop upper motor neuron dysfunction. When compared to classic ALS without dementia (n = 162), these features were significantly different. A neuro-pathological examination was performed on 7 patients, and it confirmed the presence of MND with TDP43 protein aggregates in all patients. The MND-FTD patients frequently displayed a distinctive motor pattern characterized by weakness and atrophy in distal upper limb muscles and dysphagia, with no or little spreading to other regions. These features may help to define specific subgroups of patients, which is important with regard to clinical management, outcome, and research. © 2018 S. Karger AG, Basel.

Association of MYCN copy number with clinical features, tumor biology, and outcomes in neuroblastoma: A report from the Children's Oncology Group.

PubMed

Campbell, Kevin; Gastier-Foster, Julie M; Mann, Meegan; Naranjo, Arlene H; Van Ryn, Collin; Bagatell, Rochelle; Matthay, Katherine K; London, Wendy B; Irwin, Meredith S; Shimada, Hiroyuki; Granger, M Meaghan; Hogarty, Michael D; Park, Julie R; DuBois, Steven G

2017-11-01

High-level MYCN amplification (MNA) is associated with poor outcome and unfavorable clinical and biological features in patients with neuroblastoma. To the authors' knowledge, less is known regarding these associations in patients with low-level MYCN copy number increases. In this retrospective study, the authors classified patients has having tumors with MYCN wild-type tumors, MYCN gain (2-4-fold increase in MYCN signal compared with the reference probe), or MNA (>4-fold increase). Tests of trend were used to investigate ordered associations between MYCN copy number category and features of interest. Log-rank tests and Cox models compared event-free survival and overall survival by subgroup. Among 4672 patients, 3694 (79.1%) had MYCN wild-type tumors, 133 (2.8%) had MYCN gain, and 845 (18.1%) had MNA. For each clinical/biological feature, the percentage of patients with an unfavorable feature was lowest in the MYCN wild-type category, intermediate in the MYCN gain category, and highest in the MNA category (P<.0001), except for 11q aberration, for which the highest rates were in the MYCN gain category. Patients with MYCN gain had inferior event-free survival and overall survival compared with those with MYCN wild-type. Among patients with high-risk disease, MYCN gain was associated with the lowest response rate after chemotherapy. Patients with non-stage 4 disease (according to the International Neuroblastoma Staging System) and patients with non-high-risk disease with MYCN gain had a significantly increased risk for death, a finding confirmed on multivariable testing. Increasing MYCN copy number is associated with an increasingly higher rate of unfavorable clinical/biological features, with 11q aberration being an exception. Patients with MYCN gain appear to have inferior outcomes, especially in otherwise more favorable groups. Cancer 2017;123:4224-4235. © 2017 American Cancer Society. © 2017 American Cancer Society.

[Study on computed tomography features of nasal septum cellule and its clinical significance].

PubMed

Huang, Dingqiang; Li, Wanrong; Gao, Liming; Xu, Guanqiang; Ou, Xiaoyi; Tang, Guangcai

2008-03-01

To investigate the features of nasal septum cellule in computed tomographic (CT) images and its clinical significance. CT scans data of nasal septum in 173 patients were randomly obtained from January 2001 to June 2005. Prevalence and clinical features were summarized in the data of 19 patients with nasal septum cellule retrospectively. (1) Nineteen cases with nasal septum cellule were found in 173 patients. (2) All nasal septum cellule of 19 cases located in perpendicular plate of the ethmoid bone, in which 8 cases located in upper part of nasal septum and 11 located in middle. (3) There were totally seven patients with nasal diseases related to nasal septum cellule, in which 3 cases with inflammation, 2 cases with bone fracture, 1 case with cholesterol granuloma, 1 case with mucocele. Nasal septum cellule is an anatomic variation of nasal septum bone, and its features can provide further understanding of some diseases related to nasal septum cellule.

Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

PubMed

van Trier, Dorothée C; Vos, Anna M C; Draaijer, Renske W; van der Burgt, Ineke; Draaisma, Jos M Th; Cruysberg, Johannes R M

2016-10-01

To determine the full spectrum of ocular manifestations in patients with Noonan syndrome (NS). Prospective cross-sectional clinical and genetic study in a tertiary referral center. Twenty-five patients with NS (mean age, 14 years; range, 8 months-25 years) clinically diagnosed by validated criteria. All patients were examined by the same team following a detailed study protocol. Genetic analyses were performed in 23 patients. Ocular abnormalities of vision and refraction, external ocular features, ocular position and motility, anterior segment, posterior segment, and intraocular pressure. Ocular features of vision and refraction were amblyopia (32%), myopia (40%), and astigmatism (52%). External ocular features were epicanthic folds (84%), hypertelorism (68%), ptosis (56%), high upper eyelid crease (64%), lower eyelid retraction (60%), abnormal upward slanting palpebral fissures (36%), downward slanting palpebral fissures (32%), and lagophthalmos (28%). Orthoptic abnormalities included strabismus (40%), abnormal stereopsis (44%), and limited ocular motility (40%). Anterior segment abnormalities included prominent corneal nerves (72%) and posterior embryotoxon (32%). Additional ocular features were found, including nonglaucomatous optic disc excavation (20%), relatively low (<10 mmHg) intraocular pressure (22%), and optic nerve hypoplasia (4%). Mutations were established in 22 patients: 19 PTPN11 mutations (76%), 1 SOS1 mutation, 1 BRAF mutation, and 1 KRAS mutation. The patient with the highest number of prominent corneal nerves had an SOS1 mutation. The patient with the lowest visual acuity, associated with bilateral optic nerve hypoplasia, had a BRAF mutation. Patients with severe ptosis and nearly total absence of levator muscle function had PTPN11 mutations. All patients showed at least 3 ocular features (range, 3-13; mean, 7), including at least 1 external ocular feature in more than 95% of the patients. Noonan syndrome is a clinical diagnosis with multiple genetic bases associated with an extensive variety of congenital ocular abnormalities. Ocular features of NS are characterized by 1 or more developmental anomalies of the eyelids (involving the position, opening, and closure) associated with various other ocular abnormalities in childhood, including amblyopia, myopia, astigmatism, strabismus, limited ocular motility, prominent corneal nerves, and posterior embryotoxon. Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Eosinophilic leukocytoclastic vasculitis - a spectrum ranging from Wells' syndrome to Churg-Strauss syndrome?

PubMed

Ratzinger, Gudrun; Zankl, Julia; Eisendle, Klaus; Zelger, Bernhard

2014-01-01

Wells' syndrome is defined as an inflammatory disorder with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Eosinophilic leukocytoclastic vasculitis shows eosinophilic infiltrates in combination with vasculitic changes. And Churg Strauss Syndrome comprises all three characteristics - eosinophilic infiltrates, vasculitis and flame figures. To determine whether these three diseases are distinct entities or different manifestations of a similar clinicopathologic process. Histopathological samples and clinical courses of 17 patients with eosinophilic infiltrates, flame figures and clinical features of Wells' syndrome were re-evaluated. Histopathologically, we focused on the presence or absence of vasculitic features. Clinically, we included only patients who were diagnosed with Wells' syndrome at least once in the course of their disease. 4 patients were finally diagnosed with Wells' syndrome, 5 with eosinophilic leukocytoclastic vasculitis and 6 with Churg Strauss syndrome. Further, we had one case of an overlap between Wells' syndrome and eosinophilic vasculitis and one case of Wegener granulomatosis. Vasculitic features were found in the samples of all patients. Histologically, we find vasculitic features in typical presentations of Wells' syndrome. Clinically, we find typical features of Wells' syndrome in patients finally diagnosed with eosinophilic leukocytoclastic vasculitis or Churg Strauss syndrome. Furthermore, we have observed and formerly reported 3 patients with progression from Wells' syndrome to Churg Strauss syndrome. Thus, we assume that eosinophilic leukocytoclastic vasculitis might form a bridge between Wells' syndrome and Churg Strauss syndrome.

COMPARISON OF VISUAL PROGNOSIS AND CLINICAL FEATURES OF CYTOMEGALOVIRUS RETINITIS IN HIV AND NON-HIV PATIENTS.

PubMed

Kim, Dong Yoon; Jo, Jaehyuck; Joe, Soo Geun; Kim, June-Gone; Yoon, Young Hee; Lee, Joo Yong

2017-02-01

To compare the visual prognosis and clinical features of cytomegalovirus (CMV) retinitis between HIV and non-HIV patients. Retrospective cross-sectional study on patients diagnosed with CMV retinitis. Depending on the presence of HIV infection, best-corrected visual acuity (VA) and clinical feature of CMV retinitis were analyzed. The clinical characteristics associated with poor visual prognosis after antiviral treatment were also identified. A total of 78 eyes (58 patients) with CMV retinitis were included in this study: 21 eyes and 57 eyes in HIV and non-HIV patients, respectively. Best-corrected VA was not significantly different between HIV and non-HIV patients. The rate of foveal involvement, retinal detachment, involved zone, and mortality did not significantly differ between the two groups. Visual acuity after antiviral treatment was significantly worse (pretreatment logarithm of the minimal angle of resolution best-corrected VA, 0.54 ± 0.67 [Snellen VA, 20/63]; posttreatment logarithm of the minimal angle of resolution best-corrected VA, 0.77 ± 0.94 [Snellen VA, 20/125]; P = 0.014). Poor visual prognosis was significantly associated with Zone 1 involvement, retinal detachment, and a poor general condition. The overall visual prognosis and the clinical features of CMV retinitis do not differ between HIV and non-HIV patients. The visual prognosis of CMV retinitis still remains quite poor despite advancements in antiviral treatment. This poor prognosis after antiviral treatment is associated with retinal detachment during follow-up, Zone 1 involvement, and the poor general condition of the patient.

Mirror movements in parkinsonism: evaluation of a new clinical sign

PubMed Central

Espay, A; Li, J; Johnston, L; Chen, R; Lang, A

2005-01-01

Background: Mirror movements (MM) are not widely appreciated in parkinsonism and no report has evaluated this clinical sign in detail. Objectives: To define the parkinsonian clinical features associated with MM in patients with early, asymmetric parkinsonism. Methods: Twenty seven patients with early Parkinson's disease were evaluated using a standardised videotaping protocol. MM were scored from blinded video assessment using a clinical scale that rates the amplitude, distribution, and proportion of mirroring in the less affected limb. Parkinsonian features were combined into axial and lateralised scores using related items of the Unified Parkinson's Disease Rating Scale. Results: MM were present in 24 of 27 patients. There was a significant linear correlation between the degree of asymmetry of motor deficits and MM on the less affected side. The effect of asymmetry was greater when the proportional rather than the absolute motor difference between sides was largest. Asymmetry in leg rigidity was the most important examination feature in the prediction of contralateral foot mirroring. Conclusions: MM are a clinical feature of the unaffected or less affected side in mild asymmetric parkinsonism. Their presence may be a useful clinical finding in early parkinsonism. PMID:16170075

Clinical and radiological features of Marchiafava–Bignami disease

PubMed Central

Dong, Xiaoyu; Bai, Chaobo; Nao, Jianfei

2018-01-01

Abstract Marchiafava–Bignami disease (MBD) is a rare neurological disease usually associated with chronic alcoholism and characterized by demyelination and necrosis. Our aims were to describe the clinicoradiological features and identify factors that may affect the prognosis of patients with MBD. We examined clinical manifestations, laboratory results, and neuroradiological features of 9 patients with MBD. The patients were classified into 2 subgroups (favorable and poor outcome subgroups) based on the Modified Oxford Handicap Scale (MOSH). In addition, we compared the clinical and neuroimaging features between the 2 subgroups. Nine adult male patients (age of onset range 37–62 years, with a mean age of 47.00 ± 14.50 years) were included in this study. According to MOSH, 4 patients were placed in the poor outcome subgroup (MOHS ≥ 3), 5 patients were placed in the favorable outcome subgroup (MOHS ≤ 2). Relatively high score of MAST-C (≥6) (P = .008), extracallosal lesions (P = .048), GCS (P = .026), cerebral lobe impairment (P = .048) was significantly more common in the poor outcome subgroup. Clinical manifestations of MBD are variable and lack specificity. Early diagnosis by relatively specific performance of bisymmetric lesions in corpus callosum of diffusion-weighted imaging (DWI) may affect the prognosis. The prognosis of patients with severe disturbance of consciousness, heavy alcohol consumption, extracallosal lesions, cerebral lobe impairment is probably unfavorable. PMID:29384842

Clinical and subclinical leaks after low colorectal anastomosis: a clinical and radiologic study.

PubMed

Lim, Michael; Akhtar, Saleem; Sasapu, Kishore; Harris, Keith; Burke, Dermot; Sagar, Peter; Finan, Paul

2006-10-01

This study was designed to examine the natural history of subclinical leaks and their effect on bowel function and quality of life and to evaluate water-soluble contrast enema features that predict anastomotic healing after leaks. Consecutive patients who underwent low rectal anastomosis were followed up postoperatively for leaks. All leaks were confirmed radiologically with CT scanning and water-soluble contrast enema imaging. Water-soluble contrast enemas were serially repeated to identify healing. Characteristics on initial water-soluble contrast enema were correlated with observed healing. Postoperatively, patients were required to fill in a quality of life and a bowel function questionnaire. A total of 138 patients underwent low rectal anastomosis procedures with a median follow-up period of 26 (interquartile range, 19-37) months. There were 23 documented leaks of which 13 (9 percent) presented clinically and 10 (8 percent) presented subclinically. Ileostomy closure was possible in 4 of 13 (30 percent) patients with a clinical leak and all 10 (100 percent) patients with a subclinical leak. Median quality of life scores were lower for patients with clinical leaks and no ileostomy closure (P = 0.03). Bowel function for subclinical leak patients and clinical leak patients with ileostomy closure were similarly impaired. The presence of a cavity (P = 0.01) and a stricture (P = 0.01) at the anastomotic site were unfavorable radiologic features associated with nonhealing. Subclinical leaks are more benign in their natural history compared with clinical leaks. Quality of life and bowel function is no better in patients with a subclinical leak compared with patients with a clinical leak who have ileostomy closure. Anastomotic leaks may resolve if favorable radiologic features are present.

[Clinical features of idiopathic restless legs syndrome in Japanese patients].

PubMed

Kume, Akito; Kume, Hideaki

2010-06-01

Little is known about the diagnosis and management of restless legs syndrome (RLS) in Japanese neurology clinics. To validate the diagnostic criteria of the International RLS Study Group (IRLSSG) and the treatment algorithm of the Mayo Clinic in a Japanese neurology clinic setting and to clarify the features of Japanese patients with idiopathic RLS. Patients with RLS symptoms were examined by a neurologist and the assessment included neurological examination, tests for periodic limb movements (PLM) and dopaminergic response, and the clinical diagnosis was made according to IRLSSG diagnostic criteria. Patients diagnosed with idiopathic RLS were treated with dopaminergic agents and the efficacy was evaluated. The study subjects were 151 Japanese patients who presented with RLS symptoms. Idiopathic RLS was diagnosed in 113 patients, secondary RLS in 16 and RLS mimics in 22. The cause of RLS mimics was either myelopathy, radiculopathy or neuropathy in 11 patients. The mean age of patients with idiopathic RLS was 50.1 (SD 20.0) years, 63% were woman, 97% had daily RLS, 31% had family history (40% of the early-onset subgroup), 86% reported unpleasant sensations in the lower legs, 43% had PLM in the daytime suggested immobilization test, 81% suffered from insomnia, 49% had limitations of work and activities, 71% reported impaired mood, 27% had consulted physicians about their symptoms, 4% had been diagnosed with RLS, 73% improved after dopaminergic treatments, and 33% experienced complete remission. The clinical features of Japanese patients with idiopathic RLS were identical to those reported in western countries, which suggests that IRLSSG diagnostic criteria and Mayo Clinic treatment algorism are valid in Japanese neurology clinics. Both patients and physicians were not fully aware of RLS in this country. Neurological examination was important in excluding RLS mimics and making a diagnosis of RLS.

Demographic, tumor and clinical features of clinical trials versus clinical practice patients with HER2-positive early breast cancer: results of a prospective study.

PubMed

Arpino, Grazia; Michelotti, Andrea; Truini, Mauro; Montemurro, Filippo; Russo, Stefania; Palumbo, Raffaella; Zamagni, Claudio; Latorre, Agnese; Bruzzese, Dario; Riccardi, Ferdinando; De Laurentiis, Michelino; Beano, Alessandra; Biganzoli, Laura; Zaniboni, Alberto; Laudadio, Lucio; Malagoli, Maria; Bilancia, Domenico; Schettini, Francesco; Giuliano, Mario; Cazzaniga, Marina Elena; De Placido, Sabino

2016-03-01

Several randomized clinical trials (RCTs) have demonstrated the efficacy of trastuzumab-based adjuvant therapy in HER2-positive breast cancer (BC). However, RCT patients may not invariably be representative of patients routinely seen in clinical practice (CP). To address this issue, we compared the clinical and tumor features of RCT and CP patients with HER2-positive BC. From January to December 2012, 650 consecutive patients with HER2-positive early BC, treated in 36 different types of Italian healthcare facilities, were enrolled in this study. Age, treatment, tumor size (T), nodes (N), grade (G), estrogen receptor (ER) and progesterone receptor (PgR) status were prospectively collected in these CP patients. The same data were extracted from the main adjuvant trastuzumab RCTs and pooled using the random-effects model of DerSimonian and Laird. RCT and CP patients were compared by using the Cochran Q statistics. Versus RCT patients, CP patients were more likely to be older than 50 years (65 vs. 49 %; p < 0.0001) and to have HR (ER and/or PgR)-positive (72 vs. 54 %; p < 0.0001) BC and less likely to have tumor >2 cm (T ≥ 2 cm 39 vs. 59 %; p < 0.0001), positive N (47 vs. 89 %; p < 0.0001) and a high G (61 vs. 67 %; p = 0.0241). CP patients more frequently received adjuvant endocrine therapy (70 vs. 57 %; p < 0.0003) and less frequently adjuvant chemotherapy (97 vs. 99.7 %; p < 0.0001). Most tumor and clinical features differed significantly between CP and RCT patients. These data raise concerns about the applicability of RCT results to CP patients.

The first case series of Chinese patients in Hong Kong with familial Alzheimer's disease compared with those with biomarker-confirmed sporadic late-onset Alzheimer's disease.

PubMed

Shea, Y F; Chu, L W; Lee, S C; Chan, A Ok

2017-12-01

Patients with familial Alzheimer's disease are being increasingly reported in Hong Kong. The objectives of this study were to report the clinical features of these patients, and to compare them with those with biomarker-confirmed sporadic late-onset Alzheimer's disease. All symptomatic Chinese patients with familial Alzheimer's disease who attended Queen Mary Hospital, Memory Clinic between January 1998 and December 2016 were included. Information about clinical features, baseline Mini-Mental State Examination score, and presenting cognitive symptoms or atypical clinical features were collected. Their clinical features were compared with those of 12 patients with sporadic late-onset Alzheimer's disease with cerebrospinal fluid biomarker evidence of Alzheimer's disease and 14 patients with late-onset Alzheimer's disease and positive amyloid loading on Pittsburgh compound B imaging. There were three families with familial Alzheimer's disease among whom eight family members were affected. The mean (± standard deviation) age of onset and the Mini-Mental State Examination score were 48.4 ± 7.7 years and 7.9 ± 9.2, respectively. Compared with the sporadic late-onset Alzheimer's disease patients, those with familial Alzheimer's disease had an earlier age of onset and presentation (both P<0.001) and received the correct diagnosis later (median [interquartile range], 7.5 [5.3-14.5] vs 2 [1.0-3.3] years; P<0.001). Patients with familial disease had a lower Mini-Mental State Examination score at presentation than those having late-onset Alzheimer's disease (mean, 7.9 ± 9.2 vs 17.6 ± 7.2; P=0.01). They also had fewer delusions, and less dysphoria and irritability (0% vs 41.7%, 0% vs 50% and 0% vs 54.2%; P=0.04, 0.01 and 0.01, respectively). There was a trend of less frequent amnesia among patients with familial Alzheimer's disease compared with those having late-onset Alzheimer's disease (75% vs 100%; P=0.05). Clinical features differ for patients with familial Alzheimer's disease compared with those with late-onset Alzheimer's disease. There is a delay in diagnosis. Promotion of public awareness of familial Alzheimer's disease is much needed.

Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigens

PubMed Central

Hacohen, Yael; Wright, Sukhvir; Waters, Patrick; Agrawal, Shakti; Carr, Lucinda; Cross, Helen; De Sousa, Carlos; DeVile, Catherine; Fallon, Penny; Gupta, Rajat; Hedderly, Tammy; Hughes, Elaine; Kerr, Tim; Lascelles, Karine; Lin, Jean-Pierre; Philip, Sunny; Pohl, Keith; Prabahkar, Prab; Smith, Martin; Williams, Ruth; Clarke, Antonia; Hemingway, Cheryl; Wassmer, Evangeline; Vincent, Angela; Lim, Ming J

2013-01-01

Objective To report the clinical and investigative features of children with a clinical diagnosis of probable autoimmune encephalopathy, both with and without antibodies to central nervous system antigens. Method Patients with encephalopathy plus one or more of neuropsychiatric symptoms, seizures, movement disorder or cognitive dysfunction, were identified from 111 paediatric serum samples referred from five tertiary paediatric neurology centres to Oxford for antibody testing in 2007–2010. A blinded clinical review panel identified 48 patients with a diagnosis of probable autoimmune encephalitis whose features are described. All samples were tested/retested for antibodies to N-methyl-D-aspartate receptor (NMDAR), VGKC-complex, LGI1, CASPR2 and contactin-2, GlyR, D1R, D2R, AMPAR, GABA(B)R and glutamic acid decarboxylase. Results Seizures (83%), behavioural change (63%), confusion (50%), movement disorder (38%) and hallucinations (25%) were common. 52% required intensive care support for seizure control or profound encephalopathy. An acute infective organism (15%) or abnormal cerebrospinal fluid (32%), EEG (70%) or MRI (37%) abnormalities were found. One 14-year-old girl had an ovarian teratoma. Serum antibodies were detected in 21/48 (44%) patients: NMDAR 13/48 (27%), VGKC-complex 7/48(15%) and GlyR 1/48(2%). Antibody negative patients shared similar clinical features to those who had specific antibodies detected. 18/34 patients (52%) who received immunotherapy made a complete recovery compared to 4/14 (28%) who were not treated; reductions in modified Rankin Scale for children scores were more common following immunotherapies. Antibody status did not appear to influence the treatment effect. Conclusions Our study outlines the common clinical and paraclinical features of children and adolescents with probable autoimmune encephalopathies. These patients, irrespective of positivity for the known antibody targets, appeared to benefit from immunotherapies and further antibody targets may be defined in the future. PMID:23175854

Demographics and clinical features predictive of allergic versus non-allergic rhinitis in children aged 6-18 years: A single-center experience of 1535 patients.

PubMed

La Mantia, Ignazio; Andaloro, Claudio

2017-07-01

Chronic rhinitis (CR) is one of the most common causes accounting for lost-school days, absenteeism and resource utilization in pediatric patients. Distinction between common causes of CR, allergic (AR)and non-allergic rhinitis (NAR), based upon clinical features is critical, especially in primary care settings or facilities with lack of allergen sensitivity testing, as management strategies differ considerably. The current study elucidates clinical factors, particularly facial features associated with AR and NAR using a large cohort. In a retrospective cohort analysis of pediatric patients aged 6-18 years, we assessed patient demographics, clinical symptoms, and signs associated with allergic rhinitis using multivariable regression techniques. Overall, 1490 patients (mean age: 10.11 ± 3.31 years; 48% female; 69% AR and 31% NAR) were included in the study. In multivariable regression analysis, major clinical features associated with AR were: sneezing (OR: 3.53; 95% CI: 2.35-5.32; p < 0.001), rhinorrhea (OR: 1.77; 95% CI: 1.18-2.66; p = 0.006), nasal itching (OR: 17.88; 95% CI: 11.92-26.83; p < 0.001), horizontal nasal crease (OR: 5.09; 95% CI: 1.29-20.01; p = 0.020) and conjunctivitis (OR: 4.66; 95% CI: 3.28-6.62; p < 0.001). On the contrary, we noted presence of Dennie-Morgan fold (OR: 1.67; 95% CI: 1.11-2.56; p = 0.014), moderate to severe persistent or intermittent symptoms to be likely associated with NAR than AR. In pediatric patients presenting with symptoms of rhinitis, facial hallmarks serve as an adjunct to sensitivity testing in establishing a diagnosis as well as differentiating between NAR from AR, albeit individualized upon patient history and clinical features. Copyright © 2017 Elsevier B.V. All rights reserved.

Clinicopathological features and clinical outcomes associated with TP53 and BRAFNon-V600 mutations in cutaneous melanoma patients.

PubMed

Kim, Dae Won; Haydu, Lauren E; Joon, Aron Y; Bassett, Roland L; Siroy, Alan E; Tetzlaff, Michael T; Routbort, Mark J; Amaria, Rodabe N; Wargo, Jennifer A; McQuade, Jennifer L; Kemnade, Jan; Hwu, Patrick; Woodman, Scott E; Roszik, Jason; Kim, Kevin B; Gershenwald, Jeffrey E; Lazar, Alexander J; Davies, Michael A

2017-04-15

BRAF V600 , NRAS, TP53, and BRAF Non-V600 are among the most common mutations detected in non-acral cutaneous melanoma patients. Although several studies have identified clinical and pathological features associated with BRAF V600 and NRAS mutations, limited data are available regarding the correlates and significance of TP53 and BRAF Non-V600 mutations. This study analyzed the patient demographics, primary tumor features, and clinical outcomes of a large cohort of non-acral cutaneous melanoma patients who had undergone clinically indicated molecular testing (n = 926). The prevalence of BRAF V600 , NRAS, TP53, and BRAF Non-V600 mutations was 43%, 21%, 19%, and 7%, respectively. The presence of a TP53 mutation was associated with older age (P = .019), a head and neck primary tumor site (P = .0001), and longer overall survival (OS) from the diagnosis of stage IV disease in univariate (P = .039) and multivariate analyses (P = .015). BRAF Non-V600 mutations were associated with older age (P = .005) but not with primary tumor features or OS from stage IV. Neither TP53 nor BRAF Non-V600 mutations correlated significantly with OS with frontline ipilimumab treatment, and the TP53 status was not significantly associated with outcomes with frontline BRAF inhibitor therapy. Eleven patients with BRAF Non-V600 mutations were treated with a BRAF inhibitor. Three patients were not evaluable for a response because of treatment cessation for toxicities; the remaining patients had disease progression as the best response to therapy. These results add to the understanding of the clinical features associated with TP53 and BRAF Non-V600 mutations in advanced cutaneous melanoma patients, and they support the rationale for evaluating the prognostic significance of TP53 in other cohorts of melanoma patients. Cancer 2017;123:1372-1381. © 2016 American Cancer Society. © 2016 American Cancer Society.

Radiomic texture-curvature (RTC) features for precision medicine of patients with rheumatoid arthritis-associated interstitial lung disease

NASA Astrophysics Data System (ADS)

Watari, Chinatsu; Matsuhiro, Mikio; Näppi, Janne J.; Nasirudin, Radin A.; Hironaka, Toru; Kawata, Yoshiki; Niki, Noboru; Yoshida, Hiroyuki

2018-03-01

We investigated the effect of radiomic texture-curvature (RTC) features of lung CT images in the prediction of the overall survival of patients with rheumatoid arthritis-associated interstitial lung disease (RA-ILD). We retrospectively collected 70 RA-ILD patients who underwent thin-section lung CT and serial pulmonary function tests. After the extraction of the lung region, we computed hyper-curvature features that included the principal curvatures, curvedness, bright/dark sheets, cylinders, blobs, and curvature scales for the bronchi and the aerated lungs. We also computed gray-level co-occurrence matrix (GLCM) texture features on the segmented lungs. An elastic-net penalty method was used to select and combine these features with a Cox proportional hazards model for predicting the survival of the patient. Evaluation was performed by use of concordance index (C-index) as a measure of prediction performance. The C-index values of the texture features, hyper-curvature features, and the combination thereof (RTC features) in predicting patient survival was estimated by use of bootstrapping with 2,000 replications, and they were compared with an established clinical prognostic biomarker known as the gender, age, and physiology (GAP) index by means of two-sided t-test. Bootstrap evaluation yielded the following C-index values for the clinical and radiomic features: (a) GAP index: 78.3%; (b) GLCM texture features: 79.6%; (c) hypercurvature features: 80.8%; and (d) RTC features: 86.8%. The RTC features significantly outperformed any of the other predictors (P < 0.001). The Kaplan-Meier survival curves of patients stratified to low- and high-risk groups based on the RTC features showed statistically significant (P < 0.0001) difference. Thus, the RTC features can provide an effective imaging biomarker for predicting the overall survival of patients with RA-ILD.

Stevens-Johnson syndrome and toxic epidermal necrolysis due to anticonvulsants share certain clinical and laboratory features with drug-induced hypersensitivity syndrome, despite differences in cutaneous presentations.

PubMed

Teraki, Y; Shibuya, M; Izaki, S

2010-10-01

Drug-induced hypersensitivity syndrome (DIHS)/drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is characterized by late disease onset, fever, rash, hepatic dysfunction, haematological abnormalities, lymphadenopathy and often, human herpesvirus (HHV) reactivation. The diagnosis of DIHS is based on the combined presence of these findings. Anticonvulsants are a major cause of DIHS and may also cause Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). We examined whether SJS/TEN due to anticonvulsants display similar clinical and laboratory features seen in DIHS. Patients diagnosed with SJS or TEN due to anticonvulsants (n = 8) were examined and their clinical features and laboratory findings were compared with patients with anticonvulsant-related DIHS (n = 6). Seven of the eight patients with SJS/TEN developed symptoms > 3 weeks after starting anticonvulsants. Hepatic dysfunction was present in six patients with SJS/TEN and five patients with DIHS. Leucocytosis and/or eosinophilia was noted in seven patients with SJS/TEN and four patients with DIHS. Only one patient in the SJS/TEN group had atypical lymphocytosis; this was present in four patients with DIHS. Reactivation of HHV-6 was detected in one of the four patients tested in the SJS/TEN group, although it was seen in five of the six patients with DIHS. TSJS/TEN due to anticonvulsants may exhibit some clinical and laboratory features of DIHS. The nature of the cutaneous involvement should be emphasized in the diagnosis of DIHS. © 2009 The Author(s). Journal compilation © 2009 British Association of Dermatologists.

Predicting clinical outcome of neuroblastoma patients using an integrative network-based approach.

PubMed

Tranchevent, Léon-Charles; Nazarov, Petr V; Kaoma, Tony; Schmartz, Georges P; Muller, Arnaud; Kim, Sang-Yoon; Rajapakse, Jagath C; Azuaje, Francisco

2018-06-07

One of the main current challenges in computational biology is to make sense of the huge amounts of multidimensional experimental data that are being produced. For instance, large cohorts of patients are often screened using different high-throughput technologies, effectively producing multiple patient-specific molecular profiles for hundreds or thousands of patients. We propose and implement a network-based method that integrates such patient omics data into Patient Similarity Networks. Topological features derived from these networks were then used to predict relevant clinical features. As part of the 2017 CAMDA challenge, we have successfully applied this strategy to a neuroblastoma dataset, consisting of genomic and transcriptomic data. In particular, we observe that models built on our network-based approach perform at least as well as state of the art models. We furthermore explore the effectiveness of various topological features and observe, for instance, that redundant centrality metrics can be combined to build more powerful models. We demonstrate that the networks inferred from omics data contain clinically relevant information and that patient clinical outcomes can be predicted using only network topological data. This article was reviewed by Yang-Yu Liu, Tomislav Smuc and Isabel Nepomuceno.

Upper gastrointestinal bleeding caused by severe esophagitis: a unique clinical syndrome.

PubMed

Guntipalli, Prathima; Chason, Rebecca; Elliott, Alan; Rockey, Don C

2014-12-01

We have recognized a unique clinical syndrome in patients with upper gastrointestinal bleeding who are found to have severe esophagitis. We aimed to more clearly describe the clinical entity of upper gastrointestinal bleeding in patients with severe esophagitis. We conducted a retrospective matched case-control study designed to investigate clinical features in patients with carefully defined upper gastrointestinal bleeding and severe esophagitis. Patient data were captured prospectively via a Gastrointestinal Bleeding Healthcare Registry, which collects data on all patients admitted with gastrointestinal bleeding. Patients with endoscopically documented esophagitis (cases) were matched with randomly selected controls that had upper gastrointestinal bleeding caused by other lesions. Epidemiologic features in patients with esophagitis were similar to those with other causes of upper gastrointestinal bleeding. However, hematemesis was more common in patients with esophagitis 86% (102/119) than in controls 55% (196/357) (p < 0.0001), while melena was less common in patients with esophagitis 38% (45/119) than in controls 68% (244/357) (p < 0.0001). Additionally, the more severe the esophagitis, the more frequent was melena. Patients with esophagitis had less abnormal vital signs, lesser decreases in hematocrit, and lesser increases in BUN. Both pre- and postRockall scores were lower in patients with esophagitis compared with controls (p = 0.01, and p < 0.0001, respectively). Length of hospital stay (p = 0.002), rebleeding rate at 42 days (p = 0.0007), and mortality were less in patients with esophagitis than controls. Finally, analysis of patients with esophagitis and cirrhosis suggested that this group of patients had more severe bleeding than those without cirrhosis. We have described a unique clinical syndrome in patients with upper gastrointestinal bleeding who have erosive esophagitis. This syndrome is manifest by typical clinical features and is associated with favorable outcomes.

Integrated Cox's model for predicting survival time of glioblastoma multiforme.

PubMed

Ai, Zhibing; Li, Longti; Fu, Rui; Lu, Jing-Min; He, Jing-Dong; Li, Sen

2017-04-01

Glioblastoma multiforme is the most common primary brain tumor and is highly lethal. This study aims to figure out signatures for predicting the survival time of patients with glioblastoma multiforme. Clinical information, messenger RNA expression, microRNA expression, and single-nucleotide polymorphism array data of patients with glioblastoma multiforme were retrieved from The Cancer Genome Atlas. Patients were separated into two groups by using 1 year as a cutoff, and a logistic regression model was used to figure out any variables that can predict whether the patient was able to live longer than 1 year. Furthermore, Cox's model was used to find out features that were correlated with the survival time. Finally, a Cox model integrated the significant clinical variables, messenger RNA expression, microRNA expression, and single-nucleotide polymorphism was built. Although the classification method failed, signatures of clinical features, messenger RNA expression levels, and microRNA expression levels were figured out by using Cox's model. However, no single-nucleotide polymorphisms related to prognosis were found. The selected clinical features were age at initial diagnosis, Karnofsky score, and race, all of which had been suggested to correlate with survival time. Both of the two significant microRNAs, microRNA-221 and microRNA-222, were targeted to p27 Kip1 protein, which implied the important role of p27 Kip1 on the prognosis of glioblastoma multiforme patients. Our results suggested that survival modeling was more suitable than classification to figure out prognostic biomarkers for patients with glioblastoma multiforme. An integrated model containing clinical features, messenger RNA levels, and microRNA expression levels was built, which has the potential to be used in clinics and thus to improve the survival status of glioblastoma multiforme patients.

Late-onset Becker muscular dystrophy: Refining the clinical features and electrophysiological findings.

PubMed

Beltran Papsdorf, Tania; Howard, James F; Chahin, Nizar

2015-11-01

The aim of this study was to characterize a unique distribution of muscle involvement in sporadic Becker muscle dystrophy (BMD). Retrospective chart review, clinical examination, electrophysiological studies, cardiac testing, and genetic testing were performed in 5 patients. Predominant weakness and atrophy of biceps brachii, hip adduction, and quadriceps muscles was noted along with calf and extensor forearm hypertrophy. Finger flexor muscles were severely weak in 3 of 5 patients, a feature that could lead to a misdiagnosis of inclusion body myositis. Creatinine kinase was only mildly elevated in most patients. Electromyography was abnormal in all patients. Muscle biopsy in 1 patient demonstrated normal immunostaining for dystrophin. We found a unique and uniform distribution of muscle involvement in 5 sporadic cases of BMD. Recognizing these features is important for differentiating it from other myopathies that may have similar features and avoids unnecessary invasive procedures such as muscle biopsy. © 2015 Wiley Periodicals, Inc.

Mixed Connective Tissue Disease and Epitope Spreading: An Historical Cohort Study.

PubMed

Escolà-Vergé, Laura; Pinal-Fernandez, Iago; Fernandez-Codina, Andreu; Callejas-Moraga, Eduardo L; Espinosa, Juan; Marin, Ana; Labrador-Horrillo, Moises; Selva-O'Callaghan, Albert

2017-04-01

Mixed connective tissue disease (MCTD) is characterized by the presence of anti-U1-snRNP autoantibodies and a variable set of associated clinical features. Some MCTD patients test positive over time to autoantibodies against Sm, proteins spatially related with U1-snRNP. This situation has been attributed to expanding of the autoimmune response by a phenomenon known as epitope spreading. Our aim was to study the frequency of this phenomenon in MCTD patients and the specific clinical features of those with epitope spreading. All anti-U1-RNP-positive patients (2010-2015) were retrospectively reviewed, and those meeting the MCTD criteria were included in the study. Patients showing epitope spreading were compared with the remainder of the MCTD cohort. In addition, the clinical features of patients with epitope spreading were compared before and after the phenomenon occurred. Among 72 anti-U1-RNP-positive patients, 40 (37 women) were diagnosed with MCTD. Thirteen MCTD patients (43%) presented epitope spreading, mainly during the first 2 years after the diagnosis of the disease (median, 1.4 years). Patients with epitope spreading had a significantly lower prevalence of skin sclerosis (0% vs. 44%, P = 0.004) and a greater prevalence of interstitial lung disease (46% vs. 15%, P = 0.05) than those without. Arthritis (92% vs. 25%, P = 0.02) and muscle involvement (67% vs. 17%, P = 0.02) were less frequent after epitope spreading had occurred. Epitope spreading is common in MCTD, occurring early after the diagnosis. The clinical manifestations in patients with this phenomenon differ from those without, and their clinical features change after the immunological phenomenon has occurred.

Guillain-Barré syndrome in northwestern China.

PubMed

Jiang, W; Wang, H D; Huang, Y G; Wan, Q; Xu, Y; Wu, B R

2001-01-01

We reviewed 100 patients with Guillan-Barré syndrome (GBS) from 1994 to 2000 from northwestern China. We examined clinical and electro-diagnostics features and compared them to patients from Europe, North America and northern China. Results indicated that among 100 patients with GBS, the demyelinating pattern was present in 51 patients, the axonal pattern in 25 patients, and 8 patients were inexcitable, 12 patients equivocal and 4 patients normal. The electrophysiological and clinical features of various subtypes of GBS in northwestern China seemed to be different in some ways from those in western countries and in northern China. However, in northwestern China, the demyelinating pattern is the major electrophysiological subtype.

Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?

PubMed

Ziegler, Alban; Loundon, Natalie; Jonard, Laurence; Cavé, Hélène; Baujat, Geneviève; Gherbi, Souad; Couloigner, Vincent; Marlin, Sandrine

2017-09-01

To highlight Noonan syndrome as a clinically recognizable cause of severe to profound sensorineural hearing impairment. New clinical cases and review. Patients evaluated for etiological diagnosis by a medical geneticist in a reference center for hearing impairment. Five patients presenting with confirmed Noonan syndrome and profound sensorineural hearing impairment. Diagnostic and review of the literature. Five patients presented with profound sensorineural hearing impairment and molecularly confirmed Noonan syndrome. Sensorineural hearing impairment has been progressive for three patients. Cardiac echography identified pulmonary stenosis in two patients and was normal for the three other patients. Short stature was found in two patients. Mild intellectual disability was found in one patient. Inconspicuous clinical features as facial dysmorphism, cryptorchidism, or easy bruising were of peculiar interest to reach the diagnosis of Noonan syndrome. Profound sensorineural hearing impairment can be the main feature of Noonan syndrome. Associated features are highly variable; thus, detailed medical history and careful physical examination are mandatory to consider the diagnosis in case of a sensorineural hearing impairment.

[Genetic mutation and clinical features of osteogenesis imperfecta type V].

PubMed

Guan, Shizhen; Bai, Xue; Wang, Yi; Liu, Zhigang; Ren, Xiuzhi; Zhang, Tianke; Ju, Mingyan; Li, Keqiu; Li, Guang

2017-12-10

To explore genetic mutations and clinical features of osteogenesis imperfecta type V. Clinical record of five patients (including one familial case) with osteogenesis imperfecta type V were retrospectively analyzed. Peripheral blood samples of the patients, one family member, as well as healthy controls were collected. Mutation of IFITM5 gene was identified by PCR amplification and Sanger sequencing. A heterozygous mutation (c.-14C>T) in the 5-UTR of the IFITM5 gene was identified in all of the patients and one mother. The clinical findings included frequent fractures and spine and/or extremities deformities, absence of dentinogenesis imperfecta, absence of hearing impairment, and blue sclera in 1 case. Radiographic findings revealed calcification of the interosseous membrane between the radius-ulna in all cases. Hyperplastic callus formation was found in 3 cases. Four had radial-head dislocation. A single heterozygous mutation c.-14C>T was found in the 5-UTR of the IFITM5 gene in 5 patients with osteogensis imperfecta type V. The patients showed specific radiological features including calcification of interosseous membrane, hyperplastic callus formation, and radial-head dislocation.

MR imaging features associated with distant metastasis-free survival of patients with invasive breast cancer: a case-control study.

PubMed

Song, Sung Eun; Shin, Sung Ui; Moon, Hyeong-Gon; Ryu, Han Suk; Kim, Kwangsoo; Moon, Woo Kyung

2017-04-01

Preoperative breast magnetic resonance (MR) imaging features of primary breast cancers may have the potential to act as prognostic biomarkers by providing morphologic and kinetic features representing inter- or intra-tumor heterogeneity. Recent radiogenomic studies reveal that several radiologist-annotated image features are associated with genes or signal pathways involved in tumor progression, treatment resistance, and distant metastasis (DM). We investigate whether preoperative breast MR imaging features are associated with worse DM-free survival in patients with invasive breast cancer. Of the 3536 patients with primary breast cancers who underwent preoperative MR imaging between 2003 and 2009, 147 patients with DM were identified and one-to-one matched with control patients (n = 147) without DM according to clinical-pathologic variables. Three radiologists independently reviewed the MR images of 294 patients, and the association of DM-free survival with MR imaging and clinical-pathologic features was assessed using Cox proportional hazard models. Of MR imaging features, rim enhancement (hazard ratio [HR], 1.83 [95% confidence interval, CI 1.29, 2.51]; p = 0.001) and peritumoral edema (HR, 1.48 [95% CI 1.03, 2.11]; p = 0.032) were the significant features associated with worse DM-free survival. The significant MR imaging features, however, were different between breast cancer subtypes and stages. Preoperative breast MR imaging features of rim enhancement and peritumoral edema may be used as prognostic biomarkers that help predict DM risk in patients with breast cancer, thereby potentially enabling improved personalized treatment and monitoring strategies for individual patients.

[Depressive disorders in primary care: Clinical features and sociodemographic characteristics].

PubMed

Oneib, B; Sabir, M; Otheman, Y; Ouanass, A

2018-06-01

Our aim was to determine the reason for consultation and the clinical features of depressive disorders according to the diagnostic and statistical manual (DSM) 4th edition IV R in primary care and to identify if there is an association between sociodemographic characteristics and depressive pattern. In a cross-sectional study conducted to determinate the prevalence of depressive disorders in primary care, at three urban centers in two cities Salé and Oujda by five physicians, we recruited primary care 396 patients of whom 58 were depressed, among these patients we screened for depressive disorders, their clinical features, the melancholic characteristics and suicidal ideation using the Mini International Neuropsychiatric Interview. Mean age of the 58 depressive patients was 46±15 years. They were predominantly female, inactive and of low socio-economic level. Approximately one-third of the patients were illiterate and single. The symptoms frequently encountered were sadness (63.7%), anhedonia (62%), insomnia (45.7%), anorexia (60.9%), psychomotor retardation (60.9%) and asthenia (73.9%). Somatic symptoms were present 99%, the most common complaint was pain that exhibited 68.6% prevalence. Suicidal ideations were found in 36.2% of these depressive patients. The accuracy of the clinical features of patients with depression in primary care will facilitate the detection of these disorders by general practitioners and improve management of depression. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

Oropharyngeal Dysphagia in Dermatomyositis: Associations with Clinical and Laboratory Features Including Autoantibodies

PubMed Central

Mugii, Naoki; Hasegawa, Minoru; Matsushita, Takashi; Hamaguchi, Yasuhito; Oohata, Sacihe; Okita, Hirokazu; Yahata, Tetsutarou; Someya, Fujiko; Inoue, Katsumi; Murono, Shigeyuki; Fujimoto, Manabu; Takehara, Kazuhiko

2016-01-01

Objective Dysphagia develops with low frequency in patients with dermatomyositis. Our objective was to determine the clinical and laboratory features that can estimate the development of dysphagia in dermatomyositis. Methods This study included 92 Japanese patients with adult-onset dermatomyositis. The associations between dysphagia and clinical and laboratory features including disease-specific autoantibodies determined by immunoprecipitation assays were analyzed. Results Videofluoroscopy swallow study (VFSS) was performed for all patients with clinical dysphagia (n = 13, 14.1%) but not for patients without clinical dysphagia. Typical findings of dysphagia (pharyngeal pooling, n = 11 and/or nasal regurgitation, n = 4) was detected by VFSS in all patients with clinical dysphagia. Eleven patients with dysphagia (84.6%) had anti-transcription intermediary factor 1γ (TIF-1γ) antibody. By univariate analysis, the average age and the male to female ratio, internal malignancy, and anti-TIF-1γ antibody were significantly higher and the frequency of interstitial lung diseases and manual muscle testing (MMT) scores of sternomastoid and dertoid muscles were significantly lower in patients with dysphagia than in patients without dysphagia. Among patients with anti-TIF-1γ antibody, the mean age, the ratios of male to female and internal malignancy were significantly higher and mean MMT scores of sternomastoid muscle were significantly lower in patients with dysphagia compared with patients without dysphagia. By multivariable analysis, the risk of dysphagia was strongly associated with the existence of internal malignancy and ant-TIF-1γ antibody and was also associated with reduced scores of manual muscle test of sternomastoid muscle. Dysphagia was markedly improved after the treatment against myositis in all 13 patients. Conclusion These findings indicate that dysphagia can develop frequently in patients with internal malignancy, anti-TIF-1γ antibody, or severe muscle weakness of sternomastoid muscle. PMID:27167831

Oropharyngeal Dysphagia in Dermatomyositis: Associations with Clinical and Laboratory Features Including Autoantibodies.

PubMed

Mugii, Naoki; Hasegawa, Minoru; Matsushita, Takashi; Hamaguchi, Yasuhito; Oohata, Sacihe; Okita, Hirokazu; Yahata, Tetsutarou; Someya, Fujiko; Inoue, Katsumi; Murono, Shigeyuki; Fujimoto, Manabu; Takehara, Kazuhiko

2016-01-01

Dysphagia develops with low frequency in patients with dermatomyositis. Our objective was to determine the clinical and laboratory features that can estimate the development of dysphagia in dermatomyositis. This study included 92 Japanese patients with adult-onset dermatomyositis. The associations between dysphagia and clinical and laboratory features including disease-specific autoantibodies determined by immunoprecipitation assays were analyzed. Videofluoroscopy swallow study (VFSS) was performed for all patients with clinical dysphagia (n = 13, 14.1%) but not for patients without clinical dysphagia. Typical findings of dysphagia (pharyngeal pooling, n = 11 and/or nasal regurgitation, n = 4) was detected by VFSS in all patients with clinical dysphagia. Eleven patients with dysphagia (84.6%) had anti-transcription intermediary factor 1γ (TIF-1γ) antibody. By univariate analysis, the average age and the male to female ratio, internal malignancy, and anti-TIF-1γ antibody were significantly higher and the frequency of interstitial lung diseases and manual muscle testing (MMT) scores of sternomastoid and dertoid muscles were significantly lower in patients with dysphagia than in patients without dysphagia. Among patients with anti-TIF-1γ antibody, the mean age, the ratios of male to female and internal malignancy were significantly higher and mean MMT scores of sternomastoid muscle were significantly lower in patients with dysphagia compared with patients without dysphagia. By multivariable analysis, the risk of dysphagia was strongly associated with the existence of internal malignancy and ant-TIF-1γ antibody and was also associated with reduced scores of manual muscle test of sternomastoid muscle. Dysphagia was markedly improved after the treatment against myositis in all 13 patients. These findings indicate that dysphagia can develop frequently in patients with internal malignancy, anti-TIF-1γ antibody, or severe muscle weakness of sternomastoid muscle.

Is Early-onset in Major Depression a Predictor of Specific Clinical Features with More Impaired Social Function?

PubMed Central

Liu, Yan-Hong; Chen, Lin; Su, Yun-Ai; Fang, Yi-Ru; Srisurapanont, Manit; Hong, Jin Pyo; Hatim, Ahmad; Chua, Hong Choon; Bautista, Dianne; Si, Tian-Mei

2015-01-01

Background: Early-onset major depressive disorder (MDD) (EOD) is often particularly malignant due to its special clinical features, accompanying impaired social function, protracted recovery time, and frequent recurrence. This study aimed to observe the effects of age onset on clinical characteristics and social function in MDD patients in Asia. Methods: In total, 547 out-patients aged 18–65 years who were from 13 study sites in five Asian countries were included. These patients had MDD diagnose according to the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition criteria. Clinical features and social function were assessed using Symptom Checklist-90-revised (SCL-90-R) and Sheehan Disability Scale (SDS). Quality of life was assessed by a 36-item Short-form Health Survey (SF-36). Analyses were performed using a continuous or dichotomous (cut-off: 30 years) age-of-onset indicator. Results: Early-onset MDD (EOD, <30 years) was associated with longer illness (P = 0.003), unmarried status (P < 0.001), higher neuroticism (P ≤ 0.002) based on the SCL-90-R, and more limited social function and mental health (P = 0.006, P = 0.007) based on the SF-36 and SDS. The impairment of social function and clinical severity were more prominent at in-patients with younger onset ages. Special clinical features and more impaired social function and quality of life were associated with EOD, as in western studies. Conclusions: EOD often follows higher levels of neuroticism. Age of onset of MDD may be a predictor of clinical features and impaired social function, allowing earlier diagnosis and treatment. PMID:25758278

An exploratory study of clinical measures associated with subsyndromal pathological gambling in patients with binge eating disorder.

PubMed

Yip, Sarah W; White, Marney A; Grilo, Carlos M; Potenza, Marc N

2011-06-01

Both binge eating disorder (BED) and pathological gambling (PG) are characterized by impairments in impulse control. Subsyndromal levels of PG have been associated with measures of adverse health. The nature and significance of PG features in individuals with BED is unknown. Ninety-four patients with BED (28 men and 66 women) were classified by gambling group based on inclusionary criteria for Diagnostic and Statistical Manual-IV (DSM-IV) PG and compared on a range of behavioral, psychological and eating disorder (ED) psychopathology variables. One individual (1.1% of the sample) met criteria for PG, although 18.7% of patients with BED displayed one or more DSM-IV criteria for PG, hereafter referred to as problem gambling features. Men were more likely than women to have problem gambling features. BED patients with problem gambling features were distinguished by lower self-esteem and greater substance problem use. After controlling for gender, findings of reduced self-esteem and increased substance problem use among patients with problem gambling features remained significant. In patients with BED, problem gambling features are associated with a number of heightened clinical problems.

Prevalence of neuropathic features of back pain in clinical populations: implications for the diagnostic triage paradigm.

PubMed

Hush, Julia M; Marcuzzi, Anna

2012-07-01

SUMMARY Contemporary clinical assessment of back pain is based on the diagnostic triage paradigm. The most common diagnostic classification is nonspecific back pain, considered to be of nociceptive etiology. A small proportion are diagnosed with radicular pain, of neuropathic origin. In this study we review the body of literature on the prevalence of neuropathic features of back pain, revealing that the point prevalence is 17% in primary care, 34% in mixed clinical settings and 53% in tertiary care. There is evidence that neuropathic features of back pain are not restricted to typical clinical radicular pain phenotypes and may be under-recognized, particularly in primary care. The consequence of this is that in the clinic, diagnostic triage may erroneously classify patients with nonspecific back pain or radicular pain. A promising alternative is the development of mechanism-based pain phenotyping in patients with back pain. Timely identification of contributory pain mechanisms may enable greater opportunity to select appropriate therapeutic targets and improve patient outcomes.

Paediatric Inflammatory Bowel Disease: Clinical Presentation and Disease Location.

PubMed

Aziz, Danish Abdul; Moin, Maryum; Majeed, Atif; Sadiq, Kamran; Biloo, Abdul Gaffar

2017-01-01

To determine different clinical presentationsand disease location demarcatedby upper and lower gastrointestinal endoscopyand relevant histopathologyin children diagnosed with inflammatory bowel disease (IBD). This is 5 years (2010 to 2015) retrospective studyconducted at the Aga Khan University Hospitalenrolling65admitted children between 6 months to 15years from either gender, diagnosed with IBD on clinical presentation, endoscopy and biopsy. Different clinical presentations at the time of diagnosis were noted in different categories of the disease. All patients underwent upper and lower (up to the terminal ileum) endoscopy with multiple punch biopsies and histologic assessment of mucosal specimens. All endoscopies were done by paediatric gastroenterologists at endoscopy suite of the hospital and all specimens were reported by the pathology department. ESPGHAN revised criteria for the diagnosis of inflammatory bowel disease in children and an adolescent was used to standardize our diagnosis. Extent of disease on endoscopy and relevant histopathology of the biopsy samples were noted at the time of diagnosis. Data was summarized using mean, standard deviation, numbers and percentages for different variables. Total 56 children were enrolled according to inclusion criteria. There were 34children (61.53%) diagnosed with ulcerative colitis (UC), 10 patients (16.92%) had Crohn'sDisease (CD) and 11 (21.53%) patients were labeled as Indeterminate colitis (IC). Mean age at onset of symptoms was10.03±2.44 and mean age at diagnosis was11.10±2.36. Abdominal pain (80%) and chronic diarrhea (70%) were common symptoms in CD whereas bloody diarrhea (79.41%) and rectal bleeding(64.70%)were common presentation in UC. Patients diagnosed with indeterminate colitis(IC) had similar clinical features as in UC patients. Only 7% patients had some extra-intestinal features in the form of joint pain and/or uveitis. Aspartate aminotransferase level (95.18 ±12.89) was relatively high in patients withCD in comparison with other categories of IBD. Endoscopic findings and relevant histopathology of biopsy samples in UC showed 65% patient had pan-colitis and 13 % with disease restricted to rectum only whereas in CD 70% patient had disease in ileo-colon and only 10 % had involvement of ileum at the time diagnosis. Patients with UC dominated in our cohort. The most common clinical presentation in UC was bloody diarrhea and rectal bleeding and patients with CDhad abdominal pain and chronic diarrhea as predominant clinical features. Extraintestinal features were uncommon in our cohort. In endoscopic findings, pan-colitis was the mostfrequentfinding in UC and ileo-colonwas common location in CD. IC and UC shared common clinical features and disease location on endoscopy.

Applying quantitative adiposity feature analysis models to predict benefit of bevacizumab-based chemotherapy in ovarian cancer patients

NASA Astrophysics Data System (ADS)

Wang, Yunzhi; Qiu, Yuchen; Thai, Theresa; More, Kathleen; Ding, Kai; Liu, Hong; Zheng, Bin

2016-03-01

How to rationally identify epithelial ovarian cancer (EOC) patients who will benefit from bevacizumab or other antiangiogenic therapies is a critical issue in EOC treatments. The motivation of this study is to quantitatively measure adiposity features from CT images and investigate the feasibility of predicting potential benefit of EOC patients with or without receiving bevacizumab-based chemotherapy treatment using multivariate statistical models built based on quantitative adiposity image features. A dataset involving CT images from 59 advanced EOC patients were included. Among them, 32 patients received maintenance bevacizumab after primary chemotherapy and the remaining 27 patients did not. We developed a computer-aided detection (CAD) scheme to automatically segment subcutaneous fat areas (VFA) and visceral fat areas (SFA) and then extracted 7 adiposity-related quantitative features. Three multivariate data analysis models (linear regression, logistic regression and Cox proportional hazards regression) were performed respectively to investigate the potential association between the model-generated prediction results and the patients' progression-free survival (PFS) and overall survival (OS). The results show that using all 3 statistical models, a statistically significant association was detected between the model-generated results and both of the two clinical outcomes in the group of patients receiving maintenance bevacizumab (p<0.01), while there were no significant association for both PFS and OS in the group of patients without receiving maintenance bevacizumab. Therefore, this study demonstrated the feasibility of using quantitative adiposity-related CT image features based statistical prediction models to generate a new clinical marker and predict the clinical outcome of EOC patients receiving maintenance bevacizumab-based chemotherapy.

Prognostic Utility of the 21-Gene Assay in Hormone Receptor–Positive Operable Breast Cancer Compared With Classical Clinicopathologic Features

PubMed Central

Goldstein, Lori J.; Gray, Robert; Badve, Sunil; Childs, Barrett H.; Yoshizawa, Carl; Rowley, Steve; Shak, Steven; Baehner, Frederick L.; Ravdin, Peter M.; Davidson, Nancy E.; Sledge, George W.; Perez, Edith A.; Shulman, Lawrence N.; Martino, Silvana; Sparano, Joseph A.

2008-01-01

Purpose Adjuvant! is a standardized validated decision aid that projects outcomes in operable breast cancer based on classical clinicopathologic features and therapy. Genomic classifiers offer the potential to more accurately identify individuals who benefit from chemotherapy than clinicopathologic features. Patients and Methods A sample of 465 patients with hormone receptor (HR) –positive breast cancer with zero to three positive axillary nodes who did (n = 99) or did not have recurrence after chemohormonal therapy had tumor tissue evaluated using a 21-gene assay. Histologic grade and HR expression were evaluated locally and in a central laboratory. Results Recurrence Score (RS) was a highly significant predictor of recurrence, including node-negative and node-positive disease (P < .001 for both) and when adjusted for other clinical variables. RS also predicted recurrence more accurately than clinical variables when integrated by an algorithm modeled after Adjuvant! that was adjusted to 5-year outcomes. The 5-year recurrence rate was only 5% or less for the estimated 46% of patients who have a low RS (< 18). Conclusion The 21-gene assay was a more accurate predictor of relapse than standard clinical features for individual patients with HR-positive operable breast cancer treated with chemohormonal therapy and provides information that is complementary to features typically used in anatomic staging, such as tumor size and lymph node involvement. The 21-gene assay may be used to select low-risk patients for abbreviated chemotherapy regimens similar to those used in our study or high-risk patients for more aggressive regimens or clinical trials evaluating novel treatments. PMID:18678838

A retrospective study of 370 patients with oral lichen planus in Turkey

PubMed Central

2013-01-01

Objectives: Although several detailed studies concerning the patient profile and clinical features of oral lichen planus have been undertaken all over the world in different populations, a similar study has not yet been conducted in a Turkish population. The purpose of this retrospective study was to describe the demographic and clinical characteristics of a group of patients with oral lichen planus in Turkey. Study Design: Charts of 370 patients, from the archive of Oral Diagnosis and Radiology Department of Marmara University Faculty of Dentistry (Istanbul, Turkey), with histologically confirmed clinical diagnosis of oral lichen planus in the period 1990-2010 were retrospectively reviewed. Results: Of the 370 patients, 260 (70.3%) were women and 110 (29.7%) were men. The mean age was 49.84±13.41 years (range of 16-83). The lesions were asymptomatic in 63 patients (17%). Nearly half of the patients (47.6%) had multiple sites of involvement. Predominantly red forms were the most frequent, affecting 60.5% of patients. Approximately 17% of the patients had symptoms of possible extraoral involvement. No evidence suggesting a connection between oral lichen planus and tobacco or alcohol use was found. Only one out of the 370 cases had histologically proven malignant transformation. Conclusions: The patient profile and clinical features of oral lichen planus in Turkey were generally similar to those described in other populations. The preponderance of the red forms and also the fact that majority of patients referred themselves to our clinic highlighted the lack of awareness among Turkish health care providers about lichen planus. Key words:Oral lichen planus, clinical features, patient profile. PMID:23524413

[Clinical and laboratory features and prognostic implications in myeloma with and without renal impairment].

PubMed

Griniūte, Rasa; Bumblyte, Inga Arūne

2003-01-01

Presenting clinical and laboratory features, prognostic implications and survival in 124 multiple myeloma patients were reviewed in a retrospective study based on hospital records. The median age was 65 years. Out of all patients, 2.42% were younger than 40 years and 62.9% were 60 years and older. The main presenting clinical features were bone pain (70.16%), fatigue (31.45%), recurrent infections (9.68%) and weight loss (0.3%). Renal failure was present in 35.48% of patients. The higher means of ionised calcium, uric acid, erythrocyte sedimentation rate, M protein were correlated with the higher mean of serum creatinine. The acturial survival of myeloma patients without renal failure at 1 and 2 years was 95.08% and 89.23% respectively, while acturial survival of myeloma patients with renal failure at 1 and 2 years was 82.5% and 73.35% respectively (p<0.01). One-year survival in myeloma patients maintained on chronic hemodialysis was 68.75% while it is reported as 90.91% for myeloma patients not on dialysis (p<0.006).

Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience.

PubMed

Esenboga, S; Cagdas, D; Ozgur, T T; Gur Cetinkaya, P; Turkdemir, L M; Sanal, O; VanDerBurg, M; Tezcan, I

2018-03-01

X-linked agammaglobulinemia is a primary immunodeficiency disorder resulting from BTK gene mutations. There are many studies in the literature suggesting contradictory ideas about phenotype-genotype correlation. The aim of this study was to identify the mutations and clinical findings of patients with XLA in Turkey, to determine long-term complications related to the disease and to analyse the phenotype-genotype correlation. Thirty-two patients with XLA diagnosed between 1985 and 2016 in Pediatric Immunology Department of Hacettepe University Ihsan Dogramaci Children's Hospital were investigated. A clinical survey including clinical features of the patients was completed, and thirty-two patients from 26 different families were included in the study. Getting early diagnosis and regular assessment with imaging techniques seem to be the most important issues for improving the health status of the patients with XLA. Early molecular analysis gives chance for definitive diagnosis and genetic counselling, but not for predicting the clinical severity and prognosis. © 2018 The Foundation for the Scandinavian Journal of Immunology.

Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization.

PubMed

Linhares, Natália D; Valadares, Eugênia R; da Costa, Silvia S; Arantes, Rodrigo R; de Oliveira, Luiz Roberto; Rosenberg, Carla; Vianna-Morgante, Angela M; Svartman, Marta

2016-09-01

We report on a 16-year-old boy with a maternally inherited ~ 18.3 Mb Xq13.2-q21.31 duplication delimited by aCGH. As previously described in patients with similar duplications, his clinical features included intellectual disability, developmental delay, speech delay, generalized hypotonia, infantile feeding difficulties, self-injurious behavior, short stature and endocrine problems. As additional findings, he presented recurrent seizures and pubertal gynecomastia. His mother was phenotypically normal and had completely skewed inactivation of the duplicated X chromosome, as most female carriers of such duplications. Five previously reported patients with partial Xq duplications presented duplication breakpoints similar to those of our patient. One of them, a fetus with multiple congenital abnormalities, had the same cytogenetic duplication breakpoint. Three of the reported patients shared many features with our proband but the other had some clinical features of the Prader-Willi syndrome. It was suggested that ATRX overexpression could be involved in the major clinical features of patients with partial Xq duplications. We propose that this gene could also be involved with the obesity of the patient with the Prader-Willi-like phenotype. Additionally, we suggest that the PCDH11X gene could be a candidate for our patient's recurrent seizures. In males, the Xq13-q21 duplication should be considered in the differential diagnosis of Prader-Willi syndrome, as previously suggested, and neuromuscular diseases, particularly mitochondriopathies.

Classification of clinically useful sentences in clinical evidence resources.

PubMed

Morid, Mohammad Amin; Fiszman, Marcelo; Raja, Kalpana; Jonnalagadda, Siddhartha R; Del Fiol, Guilherme

2016-04-01

Most patient care questions raised by clinicians can be answered by online clinical knowledge resources. However, important barriers still challenge the use of these resources at the point of care. To design and assess a method for extracting clinically useful sentences from synthesized online clinical resources that represent the most clinically useful information for directly answering clinicians' information needs. We developed a Kernel-based Bayesian Network classification model based on different domain-specific feature types extracted from sentences in a gold standard composed of 18 UpToDate documents. These features included UMLS concepts and their semantic groups, semantic predications extracted by SemRep, patient population identified by a pattern-based natural language processing (NLP) algorithm, and cue words extracted by a feature selection technique. Algorithm performance was measured in terms of precision, recall, and F-measure. The feature-rich approach yielded an F-measure of 74% versus 37% for a feature co-occurrence method (p<0.001). Excluding predication, population, semantic concept or text-based features reduced the F-measure to 62%, 66%, 58% and 69% respectively (p<0.01). The classifier applied to Medline sentences reached an F-measure of 73%, which is equivalent to the performance of the classifier on UpToDate sentences (p=0.62). The feature-rich approach significantly outperformed general baseline methods. This approach significantly outperformed classifiers based on a single type of feature. Different types of semantic features provided a unique contribution to overall classification performance. The classifier's model and features used for UpToDate generalized well to Medline abstracts. Copyright © 2016 Elsevier Inc. All rights reserved.

[HIV/AIDS masks in a therapist's practice].

PubMed

Roshchina, A A; Ponomareva, E Yu; Rebrov, A P

2015-01-01

To investigate clinical manifestations and diagnostic difficulties in patients with HIV/AIDS in the practice of therapeutic units of a multidisciplinary hospital. The investigation included 65 HIV/AIDS patients admitted to the therapy units of a Saratov Regional clinical hospital in 2007 to 2011. The clinical features of HIV/AIDS, immunological status, and viral load were studied. The structure of the clinical manifestation of HIV/AIDS showed a preponderance of lung injury in 45 (69%) patients. There were hematological disorders in 38 (58%) patients and nephropathy in 33 (51 %); 11 (17%) patients were diagnosed with infective endocarditis. Rheumatic symptoms and syndromes mimicking HIV/AIDS were found in 10 (15.4%) patients. The degree of immune disorders was most severe in patients with pulmonary dissemination and rheumatic masks and mutually related to the rate of cutaneous manifestations. The specific features of lung injury, infective endocarditis, pulmonary hypertension, rheumatic symptoms, and kidney injury were discussed in HIV/AIDS patients having different causes for admission to specialized therapy units. In connection with the clinical polymorphism of HIV/AIDS, physicians of all specialties should be alert for the possible clinical manifestations of this disease to timely examine patients.

Choroidal Infiltration by Retinoblastoma: Predictive Clinical Features and Outcome.

PubMed

Kaliki, Swathi; Tahiliani, Prerana; Iram, Sadiya; Ali, Mohammed Hasnat; Mishra, Dilip K; Reddy, Vijay Anand P

2016-11-01

To identify the clinical features predictive of choroidal infiltration by retinoblastoma on histopathology and to report the outcome in these patients. Retrospective study. Of the 403 patients who underwent primary enucleation for retinoblastoma, 113 patients had choroidal tumor infiltration and 290 patients had no choroidal tumor infiltration. There was a higher incidence of metastasis and related death in the choroidal tumor infiltration group compared to the no choroidal tumor infiltration group (4% vs 1%; P = .02). On multivariate analysis, the clinical features predictive of histopathologic massive choroidal infiltration included prolonged duration of symptoms for more than 6 months (hazard ratio [HR] = 3.04; P = .001) and secondary glaucoma (HR = 2.24; P = .005). In this study, the patients with retinoblastoma with prolonged duration of symptoms (> 6 months) had a three-fold greater risk and those with secondary glaucoma at presentation had a two-fold greater risk of massive choroidal tumor infiltration. [J Pediatr Ophthalmol Strabismus. 2016;53(6):349-356.]. Copyright 2016, SLACK Incorporated.

Two cases of X-linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations.

PubMed

Chan, Wai Man; Choy, Kwong Wai; Wang, Jianghua; Lam, Dennis S C; Yip, Wilson W K; Fu, Weiling; Pang, Chi Pui

2004-08-01

The optical coherence tomography (OCT) findings, clinical features, and mutations in the RS1 gene of two unrelated patients with X-linked retinoschisis (XLRS) are reported herein. Two Chinese patients with early onset XLRS were given a comprehensive ophthalmologic examination and OCT investigation. The RS1 gene was screened for sequence alterations in all exons and splice regions. The two patients presented with different phenotypic features and OCT findings. One patient with more severe clinical presentation had a RS1 exon 1 deletion and a P193S mutation was found in the other patient with mild macular involvement. OCT demonstrates the markedly different features of XLRS patients with different RS1 mutations. This study strengthens the role of OCT in the diagnosis and monitoring of XLRS.

Association between traditional clinical high-risk features and gene expression profile classification in uveal melanoma.

PubMed

Nguyen, Brandon T; Kim, Ryan S; Bretana, Maria E; Kegley, Eric; Schefler, Amy C

2018-02-01

To evaluate the association between traditional clinical high-risk features of uveal melanoma patients and gene expression profile (GEP). This was a retrospective, single-center, case series of patients with uveal melanoma. Eighty-three patients met inclusion criteria for the study. Patients were examined for the following clinical risk factors: drusen/retinal pigment epithelium (RPE) changes, vascularity on B-scan, internal reflectivity on A-scan, subretinal fluid (SRF), orange pigment, apical tumor height/thickness, and largest basal dimensions (LBD). A novel point system was created to grade the high-risk clinical features of each tumor. Further analyses were performed to assess the degree of association between GEP and each individual risk factor, total clinical risk score, vascularity, internal reflectivity, American Joint Committee on Cancer (AJCC) tumor stage classification, apical tumor height/thickness, and LBD. Of the 83 total patients, 41 were classified as GEP class 1A, 17 as class 1B, and 25 as class 2. The presence of orange pigment, SRF, low internal reflectivity and vascularity on ultrasound, and apical tumor height/thickness ≥ 2 mm were not statistically significantly associated with GEP class. Lack of drusen/RPE changes demonstrated a trend toward statistical association with GEP class 2 compared to class 1A/1B. LBD and advancing AJCC stage was statistically associated with higher GEP class. In this cohort, AJCC stage classification and LBD were the only clinical features statistically associated with GEP class. Clinicians should use caution when inferring the growth potential of melanocytic lesions solely from traditional funduscopic and ultrasonographic risk factors without GEP data.

Localized scleroderma: a series of 52 patients.

PubMed

Toledano, C; Rabhi, S; Kettaneh, A; Fabre, B; Fardet, L; Tiev, K P; Cabane, J

2009-05-01

Localized scleroderma also called morphea is a skin disorder of undetermined cause. The widely recognized Mayo Clinic Classification identifies 5 main morphea types: plaque, generalized, bullous, linear and deep. Whether each of these distinct types has a particular clinical course or is associated with some patient-related features is still unclear. We report here a retrospective series of patients with localized scleroderma with an attempt to identify features related to the type of lesion involved. The medical records of all patients with a diagnosis of localized scleroderma were reviewed by skilled practitioners. Lesions were classified according to the Mayo Clinic Classification. The relationship between each lesion type and various clinical features was tested by non-parametrical methods. The sample of 52 patients included 43 females and 9 males. Median age at onset was 30 y (range 1-76). Frequencies of patients according to morphea types were: plaque morphea 41 (78.8%) (including morphea en plaque 30 (57.7%) and atrophoderma of Pasini-Pierini 11 (21.1%)), linear scleroderma 14 (26.9%). Nine patients (17.3%) had both types of localized scleroderma. Median age at onset was lower in patients with linear scleroderma (8 y (range 3-44)) than in others (36 y (range 1-77)) (p=0.0003). Head involvement was more common in patients with linear scleroderma (37.5%) than in other subtypes (11.1%) (p=0.05). Atrophoderma of Pasini-Pierini was never located at the head. Systemic symptoms, antinuclear antibodies and the rheumatic factor were not associated with localized scleroderma types or subtypes. These results suggest that morphea types, in adults are not associated with distinct patient features except for age at disease onset (lower) and the localization on the head (more frequent), in patients with lesions of the linear type.

Patient-derived xenografts as preclinical neuroblastoma models.

PubMed

Braekeveldt, Noémie; Bexell, Daniel

2018-05-01

The prognosis for children with high-risk neuroblastoma is often poor and survivors can suffer from severe side effects. Predictive preclinical models and novel therapeutic strategies for high-risk disease are therefore a clinical imperative. However, conventional cancer cell line-derived xenografts can deviate substantially from patient tumors in terms of their molecular and phenotypic features. Patient-derived xenografts (PDXs) recapitulate many biologically and clinically relevant features of human cancers. Importantly, PDXs can closely parallel clinical features and outcome and serve as excellent models for biomarker and preclinical drug development. Here, we review progress in and applications of neuroblastoma PDX models. Neuroblastoma orthotopic PDXs share the molecular characteristics, neuroblastoma markers, invasive properties and tumor stroma of aggressive patient tumors and retain spontaneous metastatic capacity to distant organs including bone marrow. The recent identification of genomic changes in relapsed neuroblastomas opens up opportunities to target treatment-resistant tumors in well-characterized neuroblastoma PDXs. We highlight and discuss the features and various sources of neuroblastoma PDXs, methodological considerations when establishing neuroblastoma PDXs, in vitro 3D models, current limitations of PDX models and their application to preclinical drug testing.

SU-F-R-45: The Prognostic Value of Radiotherapy Based On the Changes of Texture Features Between Pre-Treatment and Post-Treatment FDG PET Image for NSCLC Patients

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ma, C; Yin, Y

Purpose: The purpose of this research is investigating which texture features extracted from FDG-PET images by gray-level co-occurrence matrix(GLCM) have a higher prognostic value than the other texture features. Methods: 21 non-small cell lung cancer(NSCLC) patients were approved in the study. Patients underwent 18F-FDG PET/CT scans with both pre-treatment and post-treatment. Firstly, the tumors were extracted by our house developed software. Secondly, the clinical features including the maximum SUV and tumor volume were extracted by MIM vista software, and texture features including angular second moment, contrast, inverse different moment, entropy and correlation were extracted using MATLAB.The differences can be calculatedmore » by using post-treatment features to subtract pre-treatment features. Finally, the SPSS software was used to get the Pearson correlation coefficients and Spearman rank correlation coefficients between the change ratios of texture features and change ratios of clinical features. Results: The Pearson and Spearman rank correlation coefficient between contrast and SUV maximum is 0.785 and 0.709. The P and S value between inverse difference moment and tumor volume is 0.953 and 0.942. Conclusion: This preliminary study showed that the relationships between different texture features and the same clinical feature are different. Finding the prognostic value of contrast and inverse difference moment were higher than the other three textures extracted by GLCM.« less

Predicting Relapse in Patients With Medulloblastoma by Integrating Evidence From Clinical and Genomic Features

PubMed Central

Tamayo, Pablo; Cho, Yoon-Jae; Tsherniak, Aviad; Greulich, Heidi; Ambrogio, Lauren; Schouten-van Meeteren, Netteke; Zhou, Tianni; Buxton, Allen; Kool, Marcel; Meyerson, Matthew; Pomeroy, Scott L.; Mesirov, Jill P.

2011-01-01

Purpose Despite significant progress in the molecular understanding of medulloblastoma, stratification of risk in patients remains a challenge. Focus has shifted from clinical parameters to molecular markers, such as expression of specific genes and selected genomic abnormalities, to improve accuracy of treatment outcome prediction. Here, we show how integration of high-level clinical and genomic features or risk factors, including disease subtype, can yield more comprehensive, accurate, and biologically interpretable prediction models for relapse versus no-relapse classification. We also introduce a novel Bayesian nomogram indicating the amount of evidence that each feature contributes on a patient-by-patient basis. Patients and Methods A Bayesian cumulative log-odds model of outcome was developed from a training cohort of 96 children treated for medulloblastoma, starting with the evidence provided by clinical features of metastasis and histology (model A) and incrementally adding the evidence from gene-expression–derived features representing disease subtype–independent (model B) and disease subtype–dependent (model C) pathways, and finally high-level copy-number genomic abnormalities (model D). The models were validated on an independent test cohort (n = 78). Results On an independent multi-institutional test data set, models A to D attain an area under receiver operating characteristic (au-ROC) curve of 0.73 (95% CI, 0.60 to 0.84), 0.75 (95% CI, 0.64 to 0.86), 0.80 (95% CI, 0.70 to 0.90), and 0.78 (95% CI, 0.68 to 0.88), respectively, for predicting relapse versus no relapse. Conclusion The proposed models C and D outperform the current clinical classification schema (au-ROC, 0.68), our previously published eight-gene outcome signature (au-ROC, 0.71), and several new schemas recently proposed in the literature for medulloblastoma risk stratification. PMID:21357789

[Clinical features of Enterococcus faecium meningitis in children].

PubMed

Wang, Li-Yuan; Cai, Xiao-Tang; Wang, Zhi-Ling; Liu, Shun-Li; Xie, Yong-Mei; Zhou, Hui

2018-03-01

To summarize the clinical features of Enterococcus faecium meningitis in children. The clinical data of nine children with Enterococcus faecium meningitis were analyzed. In all the nine children, Enterococcus faecium was isolated from blood, cerebrospinal fluid, or peripherally inserted central catheters; 6 (67%) patients were neonates, 2 (22%) patients were younger than 6 months, and 1 (11%) patient was three years and four months of age. In those patients, 56% had high-risk factors before onset, which included intestinal infection, resettlement of drainage tube after surgery for hydrocephalus, skull fracture, perinatal maternal infection history, and catheter-related infection. The main symptoms were fever and poor response. In those patients, 22% had seizures; no child had meningeal irritation sign or disturbance of consciousness. The white blood cell count and level of C-reactive protein were normal or increased; the nucleated cell count in cerebrospinal fluid was normal or mildly elevated; the protein level was substantially elevated; the glucose level was decreased. The drug sensitivity test showed that bacteria were all sensitive to vancomycin and the vancomycin treatment was effective. Only one child had the complication of hydrocephalus. Enterococcus faecium meningitis occurs mainly in neonates and infants. The patients have atypical clinical features. A high proportion of patients with Enterococcus faecium meningitis have high-risk factors. Enterococcus faecium is sensitive to vancomycin.

Effects of age of onset on disease characteristics in non-segmental vitiligo.

PubMed

Solak, Berna; Dikicier, Bahar Sevimli; Cosansu, Nur C; Erdem, Teoman

2017-03-01

In patients with vitiligo, the clinical and laboratory features of the disease may vary according to time of onset. This is addressed in the literature by only a few studies with conflicting results. The aim of this study was to determine the demographic and clinical features of patients with non-segmental vitiligo and to establish the association between vitiligo and autoimmune diseases with a focus on time of disease onset. A total of 224 vitiligo patients for whom complete medical records were available were evaluated retrospectively. Demographic data, scores on the Vitiligo Area Score Index (VASI), clinical features, vitiligo disease activity, repigmentation status, presence of any accompanying autoimmune disease, antinuclear antibody (ANA) titers, serum levels of glucose, thyroid-stimulating hormone (TSH), thyroxine (T4) hormone, anti-thyroid peroxidase (anti-TPO), and anti-thyroglobulin (anti-TG) were recorded. The prevalence of halo nevi was significantly higher (P < 0.001) among children than in other patient groups. The prevalence of leukotrichia was higher in adults with adult-onset disease than in either pediatric patients or adults with childhood-onset disease (P = 0.002). Both anti-TG and anti-TPO levels were significantly higher in adults with adult-onset disease than in pediatric patients and adult patients with childhood-onset disease. The prevalence of autoimmune disease was 22.2%. Anti-TG levels were significantly higher in patients with treatment-related repigmentation than in those without repigmentation. This study shows that clinical features and associations with autoimmune disease may vary according to the age of onset of vitiligo. © 2017 The International Society of Dermatology.

Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.

PubMed

Nicita, Francesco; Garone, Giacomo; Spalice, Alberto; Savasta, Salvatore; Striano, Pasquale; Pantaleoni, Chiara; Spartà, Maria Valentina; Kluger, Gerhard; Capovilla, Giuseppe; Pruna, Dario; Freri, Elena; D'Arrigo, Stefano; Verrotti, Alberto

2016-01-01

Seizures are rarely reported in Williams-Beuren syndrome (WBS)--a contiguous-gene-deletion disorder caused by a 7q11.23 heterozygous deletion of 1.5-1.8 Mb--and no previous study evaluated electro-clinical features of epilepsy in this syndrome. Furthermore, it has been hypothesized that atypical deletion (e.g., larger than 1.8 Mb) may be responsible for a more pronounced neurological phenotypes, especially including seizures. Our objectives are to describe the electro-clinical features in WBS and to correlate the epileptic phenotype with deletion of the 7q11.23 critical region. We evaluate the electro-clinical features in one case of distal 7q11.23 deletion syndrome and in eight epileptic WBS (eWBS) patients. Additionally, we compare the deletion size-and deleted genes-of four epileptic WBS (eWBS) with that of four non-epileptic WBS (neWBS) patients. Infantile spasms, focal (e.g., motor and dyscognitive with autonomic features) and generalized (e.g., tonic-clonic, tonic, clonic, myoclonic) seizures were encountered. Drug-resistance was observed in one patient. Neuroimaging discovered one case of focal cortical dysplasia, one case of fronto-temporal cortical atrophy and one case of periventricular nodular heterotopia. Comparison of deletion size between eWBS and neWBS patients did not reveal candidate genes potentially underlying epilepsy. This is the largest series describing electro-clinical features of epilepsy in WBS. In WBS, epilepsy should be considered both in case of typical and atypical deletions, which do not involve HIP1, YWHAG or MAGI2. © 2015 Wiley Periodicals, Inc.

Upper extremity paraesthesia: clinical assessment and reasoning.

PubMed

Muscolino, Joseph E

2008-07-01

The art of clinical assessment involves an accurate determination of the cause(s) of a patient's symptoms. Given that a set of symptoms can be influenced by many contributing factors and features, assessment needs to differentially evaluate these. Accurate and appropriate treatment depends on differential assessment based on sound clinical reasoning. Many conditions derive from multiple causes demanding evaluation of as many etiological features as can be identified. The case review presented here involves a patient presenting with paraesthesia spreading into her right upper extremity. A complex history, involving her neck and contralateral upper extremity was assessed. The patient was found to have at least seven underlying, predisposing, and etiological, conditions capable of initiating, aggravating, or maintaining the presenting symptoms. Weighing the relative contributions of these often interacting features, and correlating this with the history, helped to identify a successful course of treatment.

Clinical and imaging features in different inner border-zone infarct patterns.

PubMed

Wang, Yujie; Wang, Jian

2015-03-01

The clinical and imaging features of different inner border-zone infarct patterns, corona radiata (CR) and centrum semiovale (CSO), is not quiet clear. Both are mostly reported together in previous studies. We intended to observe their clinical and imaging features. We observed 83 patients-47 cases with CR infarct lesion pattern and 36 cases with CSO. The lesion patterns were determined by diffusion-weighted imaging. Basic, clinical and radiologic features were compared between the patients with CR and CSO infarct lesion patterns. There was no significant difference between CR and CSO infarct patterns in terms of risk factors. However, patients with CR infarct had a higher initial National Institutes of Health Stroke Scale (NIHSS) score at admission (5.2 ± 2.3) than with CSO (3.9 ± 2.0, p = 0.009). Early clinical deterioration (OR, 2.42; 95% CI, 1.12-5.21; p = 0.024) and middle cerebral artery (MCA) stenosis (OR, 10.31; 95% CI, 3.30-32.19; p < 0.0001) were independently associated with the CR infarct lesion pattern. Partial infarct lesion shape (OR, 5.95; 95% CI, 1.40-25.33; p = 0.016) and internal carotid artery (ICA) stenosis (OR, 5.28; 95% CI, 1.92-14.51; p = 0.001) were independently correlated with the CSO infarct lesion pattern. Although CR and CSO infarct patterns might share common etiology and mechanisms, their clinical and imaging features are different.

A multicenter retrospective analysis of the clinical features of pernicious anemia in a Korean population.

PubMed

Song, Ik-Chan; Lee, Hyo Jin; Kim, Han-Jo; Bae, Sang-Byung; Lee, Kyu-Taek; Yang, Young-Jun; Park, Suk-Young; Cho, Do-Yeun; Kim, Nae Yu; Cho, In-Sung; Jo, Deog-Yeon

2013-02-01

To determine the approximate incidence and clinical features of pernicious anemia in a Korean population, we retrospectively analyzed clinical data for patients with pernicious anemia who were diagnosed between 1995 and 2010 at five hospitals in Chungnam province. Ninety-seven patients were enrolled, who accounted for 24% of patients with vitamin B(12) deficiency anemia. The approximate annual incidence of pernicious anemia was 0.3 per 100,000. The median age was 66 (range, 32-98) yr, and the male/female ratio was 1.25. Anemia-associated discomfort was the most common symptom (79.4%), followed by gastrointestinal and neurological symptoms (78.4% and 38.1%, respectively). Pancytopenia was found in 36 patients (37.1%), and autoimmune disorders were found in 15 patients (15.5%). Antibody to intrinsic factor was detected in 62 (77.5%) of 80 patients examined, and antibody to parietal cells was detected in 35 (43.2%) of 81 patients examined. Of the 34 patients who underwent tests for Helicobacter pylori, 7 (12.5%) were positive. The anemia-associated and gastrointestinal symptoms resolved completely in all patients after intramuscular injection of cobalamin, whereas neurological symptoms remained in some. In conclusion, pernicious anemia is less frequent in Koreans than in Western populations; however, the clinical features of this disorder in Koreans do not differ from those of Western cases.

A Multicenter Retrospective Analysis of the Clinical Features of Pernicious Anemia in a Korean Population

PubMed Central

Song, Ik-Chan; Lee, Hyo Jin; Kim, Han-Jo; Bae, Sang-Byung; Lee, Kyu-Taek; Yang, Young-Jun; Park, Suk-Young; Cho, Do-Yeun; Kim, Nae Yu; Cho, In-Sung

2013-01-01

To determine the approximate incidence and clinical features of pernicious anemia in a Korean population, we retrospectively analyzed clinical data for patients with pernicious anemia who were diagnosed between 1995 and 2010 at five hospitals in Chungnam province. Ninety-seven patients were enrolled, who accounted for 24% of patients with vitamin B12 deficiency anemia. The approximate annual incidence of pernicious anemia was 0.3 per 100,000. The median age was 66 (range, 32-98) yr, and the male/female ratio was 1.25. Anemia-associated discomfort was the most common symptom (79.4%), followed by gastrointestinal and neurological symptoms (78.4% and 38.1%, respectively). Pancytopenia was found in 36 patients (37.1%), and autoimmune disorders were found in 15 patients (15.5%). Antibody to intrinsic factor was detected in 62 (77.5%) of 80 patients examined, and antibody to parietal cells was detected in 35 (43.2%) of 81 patients examined. Of the 34 patients who underwent tests for Helicobacter pylori, 7 (12.5%) were positive. The anemia-associated and gastrointestinal symptoms resolved completely in all patients after intramuscular injection of cobalamin, whereas neurological symptoms remained in some. In conclusion, pernicious anemia is less frequent in Koreans than in Western populations; however, the clinical features of this disorder in Koreans do not differ from those of Western cases. PMID:23400269

Changes in patient satisfaction related to hospital renovation: experience with a new clinical building.

PubMed

Siddiqui, Zishan K; Zuccarelli, Rebecca; Durkin, Nowella; Wu, Albert W; Brotman, Daniel J

2015-03-01

There is an increasing trend toward designing hospitals with patient-centered features like reduced noise, improved natural light, visitor friendly facilities, well-decorated rooms, and hotel-like amenities. It has also been suggested that because patients cannot reliably distinguish positive experiences with the physical environment from positive experience with care, an improved hospital environment leads to higher satisfaction with physicians, nursing, food service, housekeeping, and higher overall satisfaction. To characterize changes in patient satisfaction that occurred when clinical services (comprised of stable nursing, physician, and unit teams) were relocated to a new clinical building with patient-centered features. We hypothesized that new building features would positively impact provider, ancillary staff, and overall satisfaction, as well as improved satisfaction with the facility. Natural experiment utilizing a pre-post design with concurrent controls. Academic tertiary care hospital. We included all patients discharged from 12 clinical units that relocated to the new clinical building who returned surveys in the 7.5-month period following the move. Premove baseline data were captured from the year prior to the move. Patients on unmoved clinical units who returned satisfaction surveys served as concurrent controls. Patient-centered design features incorporated into the new clinical building. All patients during the baseline period and control patients during the study period were located in usual patient rooms with standard hospital amenities. The primary outcome was satisfaction scores on the Press Ganey and Hospital Consumer Assessment of Healthcare Providers and Systems survey, dichotomized at highest category versus lower categories. We performed logistic regression to identify predictors of "top-box" scores. The move was associated with improved room- and visitor-related satisfaction without significant improvement in satisfaction with clinical providers, ancillary staff, and only 1 of 4 measures of overall satisfaction improved. The most prominent increase was with pleasantness of décor (33.6% vs 64.8%) and visitor accommodation and comfort (50.0% vs 70.3%). Patients responded positively to pleasing surroundings and comfort, but were able to discriminate their experiences with the hospital environment from those with physicians and nurses. The move to a new building had significant impact on only 1 of the 4 measures of overall patient satisfaction, as clinical care is likely to be the most important determinant of this outcome. Hospital administrators should not use outdated facilities as an excuse for suboptimal provider satisfaction scores. © 2014 Society of Hospital Medicine.

Clinical Features and Prognostic Factors of Hodgkin's Lymphoma: A Single Center Experience.

PubMed

Kılıçkap, Saadettin; Barışta, Ibrahim; Ulger, Sükran; Celik, Ismail; Selek, Uğur; Yıldız, Ferah; Kars, Ayşe; Ozışık, Yavuz; Tekuzman, Gülten

2013-06-01

Hodgkin's lymphoma (HL) is a B cell lymphoma characterized by the presence of Reed-Sternberg cells. HL comprises 1% of all cancer cases and 14% of all lymphoma cases. We designed a retrospective study to investigate the clinical features and prognostic factors of HL patients diagnosed at an experienced oncology centre. Retrospective study. Demographic characteristics, histopathological and clinical features, treatment modalities and response to treatment were obtained from hospital records. Dates of initial diagnosis, remission and relapse, last visit and death were recorded for survival analyses. We analysed data of 391 HL patients (61% male, 39% female; mean age 35.7±15.1 years). The most common classical HL histological subtype was nodular sclerosing HL (NSHL) (42.7%). The most common stage was II 50.4%. The most common chemotherapy regimen was doxorubicin, bleomycin, vinblastine and dacarbazine (ABVD) (70.6%). Five and 10-year survival rates were 90% and 84%, respectively. Early-stage patients with good prognostic factors had better overall and relapse-free survival rates. The presence of "B" symptoms, albumin level, Eastern Cooperative Oncology Group (ECOG) performance score, and LDH were prognostic factors that affect the survival in both univariate and multivariate analyses. This is the first study that demonstrates the demographic, clinical and prognostic features of HL patients in Turkey, and provides a general picture of the HL patients in our country.

Association between dynamic features of breast DCE-MR imaging and clinical response of neoadjuvant chemotherapy: a preliminary analysis

NASA Astrophysics Data System (ADS)

Huang, Lijuan; Fan, Ming; Li, Lihua; Zhang, Juan; Shao, Guoliang; Zheng, Bin

2016-03-01

Neoadjuvant chemotherapy (NACT) is being used increasingly in the management of patients with breast cancer for systemically reducing the size of primary tumor before surgery in order to improve survival. The clinical response of patients to NACT is correlated with reduced or abolished of their primary tumor, which is important for treatment in the next stage. Recently, the dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) is used for evaluation of the response of patients to NACT. To measure this correlation, we extracted the dynamic features from the DCE- MRI and performed association analysis between these features and the clinical response to NACT. In this study, 59 patients are screened before NATC, of which 47 are complete or partial response, and 12 are no response. We segmented the breast areas depicted on each MR image by a computer-aided diagnosis (CAD) scheme, registered images acquired from the sequential MR image scan series, and calculated eighteen features extracted from DCE-MRI. We performed SVM with the 18 features for classification between patients of response and no response. Furthermore, 6 of the 18 features are selected to refine the classification by using Genetic Algorithm. The accuracy, sensitivity and specificity are 87%, 95.74% and 50%, respectively. The calculated area under a receiver operating characteristic (ROC) curve is 0.79+/-0.04. This study indicates that the features of DCE-MRI of breast cancer are associated with the response of NACT. Therefore, our method could be helpful for evaluation of NACT in treatment of breast cancer.

Diagnosis of Richter transformation in chronic lymphocytic leukemia: histology tips the scales.

PubMed

Federmann, Birgit; Mueller, Martin R; Steinhilber, Julia; Horger, Marius S; Fend, Falko

2018-06-12

Development of diffuse large B-cell lymphoma in chronic lymphocytic leukemia, so-called Richter transformation (RT), occurs in 2-5% of patients and is associated with poor outcome. The clinical features of RT are fairly non-specific and unable to discriminate transformation from other mimics. In case of clinically suspected RT, a CT/MRT is recommended, and FDG-PET/CT may help to select the site of biopsy. Radiological features suggestive of RT have been defined, but there are only limited data about their predictive value, and histological confirmation is still considered the gold standard for RT diagnosis. We retrospectively analyzed 34 patients with clinically suspected RT and available radiological and histological data. A histopathological diagnosis of RT with concordant clinical and radiological findings was obtained in 13 patients. In 18 patients, CT did not show features of transformation, concordant with lack of RT in the biopsy. Of interest, a distinct lymphoma other than DLBCL was identified in two of these cases. A false-positive radiological diagnosis of RT was rendered in two patients, including a case of Herpes simplex virus lymphadenitis. In conclusion, our findings confirm the central role of tissue biopsy in the diagnostic work up in case of clinically suspected RT.

Clinical Features and Extraintestinal Manifestations of Crohn Disease in Children

PubMed Central

Lee, Young Ah; Chun, Peter; Hwang, Eun Ha; Mun, Sang Wook; Lee, Yeoun Joo

2016-01-01

Purpose The aim of this study was to investigate the clinical features and extraintestinal manifestations (EIMs) of Crohn disease (CD) in Korean pediatric patients. Methods The medical records of 73 children diagnosed with CD were retrospectively reviewed. Data regarding baseline demographic and clinical characteristics, including CD phenotype at diagnosis based on the Montreal classification, and clinical features and course of EIMs were investigated. Results Fifty-two (71.2%) of the patients were males. The mean age of the patients was 12.5 years. The mean follow-up period was 3.4 years. The disease location was ileal in 3 (4.1%) of the patients, colonic in 13 (17.8%), ileocolonic in 56 (76.7%). The clinical behavior was inflammatory in 62 (84.9%) of the patients, stricturing in 8 (11.0%), and penetrating in 3 (4.1%). Perianal abscesses or fistulas were found in 37 (50.7%) of the patients. EIMs observed during the study period were anal skin tag in 25 patients (34.2%), hypertransaminasemia in 20 (27.4%), peripheral arthritis in 2 (2.7%), erythema nodosum in 2 (2.7%), vulvitis in 1 (1.4%), uveitis in 1 (1.4%), and pulmonary thromboembolism in 1 (1.4%). Conclusion Perianal diseases and manifestations were present in more than half of Korean pediatric CD patients at diagnosis. Inspection of the anus should be mandatory in Korean children with suspicious CD, as perianal fistulas, abscesses, and anal skin tags may be the first clue to the diagnosis of CD. PMID:28090468

Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient

PubMed Central

2006-01-01

Monogenic diabetes results from one or more mutations in a single gene which might hence be rare but has great impact leading to diabetes at a very young age. It has resulted in great challenges for researchers elucidating the aetiology of diabetes and related features in other organ systems, for clinicians specifying a diagnosis that leads to improved genetic counselling, predicting of clinical course and changes in treatment, and for patients to altered treatment that has lead to coming off insulin and injections with no alternative (Glucokinase mutations), insulin injections being replaced by tablets (e.g. low dose in HNFα or high dose in potassium channel defects -Kir6.2 and SUR1) or with tablets in addition to insulin (e.g. metformin in insulin resistant syndromes). Genetic testing requires guidance to test for what gene especially given limited resources. Monogenic diabetes should be considered in any diabetic patient who has features inconsistent with their current diagnosis (unspecified neonatal diabetes, type 1 or type 2 diabetes) and clinical features of a specific subtype of monogenic diabetes (neonatal diabetes, familial diabetes, mild hyperglycaemia, syndromes). Guidance is given by clinical and physiological features in patient and family and the likelihood of the proposed mutation altering clinical care. In this article, I aimed to provide insight in the genes and mutations involved in insulin synthesis, secretion, and resistance, and to provide guidance for genetic testing by showing the clinical and physiological features and tests for each specified diagnosis as well as the opportunities for treatment. PMID:17186387

Sensitivity and specificity of clinical, histologic, and immunologic features in the diagnosis of paraneoplastic pemphigus.

PubMed

Joly, P; Richard, C; Gilbert, D; Courville, P; Chosidow, O; Roujeau, J C; Beylot-Barry, M; D'incan, M; Martel, P; Lauret, P; Tron, F

2000-10-01

Paraneoplastic pemphigus (PNP) is an autoimmune blistering disease characterized by the production of autoantibodies mainly directed against proteins of the plakin family. An overlapping distribution of autoantibody specificities has been recently reported between PNP, pemphigus vulgaris (PV), and pemphigus foliaceus (PF), which suggests a relationship between the different types of pemphigus. Our purpose was to evaluate the sensitivity and the specificity of clinical, histologic, and immunologic features in the diagnosis of PNP. The clinical, histologic, and immunologic features of 22 PNP patients were retrospectively reviewed and compared with those of 81 PV and PF patients without neoplasia and of 8 PV and 4 PF patients with various neoplasms. One clinical and 2 biologic features had both high sensitivity (82%-86%) and high specificity (83%-100%) whatever the control group considered: (1) association with a lymphoproliferative disorder, (2) indirect immunofluorescence (IIF) labeling of rat bladder, and (3) recognition of the envoplakin and/or periplakin bands in immunoblotting. Two clinicopathologic and two biologic features had high specificity (87%-100%) but poor sensitivity (27%-59%): (1) clinical presentation associating erosive oral lesions with erythema multiforme-like, bullous pemphigoid-like, or lichen planus-like cutaneous lesions; (2) histologic picture of suprabasal acantholysis with keratinocyte necrosis, interface changes, or lichenoid infiltrate; (3) presence of both anti-epithelial cell surface and anti-basement membrane zone antibodies by IIF; and (4) recognition of the desmoplakin I and/or BPAG1 bands in immunoblotting. Interestingly, 45% of patients with PNP presented initially with isolated oral erosions that were undistinguishable from those seen in PV patients, and 27% had histologic findings of only suprabasal acantholysis, which was in accordance with the frequent detection of anti-desmoglein 3 antibodies in PNP sera. The association with a lymphoproliferative disorder, the IIF labeling of rat bladder, and the immunoblotting recognition of envoplakin and/or periplakin are both sensitive and specific features in the diagnosis of PNP.

Incidence and clinical characteristics in a Colombian cohort of ocular toxoplasmosis.

PubMed

de-la-Torre, A; López-Castillo, C A; Gómez-Marín, J E

2009-05-01

To evaluate the incidence and clinical features of patients with ocular toxoplasmosis in a Colombian cohort. We collected prospectively the clinical features of patients with ocular toxoplasmosis seen at the 'Universidad del Quindio' health centre between September 2005 and September 2007 (24 months). Seventy patients were included in the analysis (95 affected eyes). The median age at the first episode was 21 years (range: 1-54 years). Thirty-two patients had active lesions (45.7%), one of them had active lesions in both eyes. The acquisition of infection was determined in 14 patients as congenital (20%), in seven as an acquired postnatal infection (10%), and in 49 as undetermined (70%). Bilateral involvement was found in 25 cases (35.7%). Unilateral legal blindness (<20/200) was found in 14 of 37 inactive cases (37.8%). The most frequent complication was strabismus (n: 12; 13.4%). There is a high incidence of cases of ocular toxoplasmosis in Quindio region (three new episodes by 100,000 inhabitants by year). Clinical features of ocular toxoplasmosis in Colombia are similar to those reported in other regions but there are no comparative data about the size and number of lesions.

Radiomics analysis of DWI data to identify the rectal cancer patients qualified for local excision after neoadjuvant chemoradiotherapy

NASA Astrophysics Data System (ADS)

Tang, Zhenchao; Liu, Zhenyu; Zhang, Xiaoyan; Shi, Yanjie; Wang, Shou; Fang, Mengjie; Sun, Yingshi; Dong, Enqing; Tian, Jie

2018-02-01

The Locally advanced rectal cancer (LARC) patients were routinely treated with neoadjuvant chemoradiotherapy (CRT) firstly and received total excision afterwards. While, the LARC patients might relieve to T1N0M0/T0N0M0 stage after the CRT, which would enable the patients be qualified for local excision. However, accurate pathological TNM stage could only be obtained by the pathological examination after surgery. We aimed to conduct a Radiomics analysis of Diffusion weighted Imaging (DWI) data to identify the patients in T1N0M0/T0N0M0 stages before surgery, in hope of providing clinical surgery decision support. 223 routinely treated LARC patients in Beijing Cancer Hospital were enrolled in current study. DWI data and clinical characteristics were collected after CRT. According to the pathological TNM stage, the patients of T1N0M0 and T0N0M0 stages were labelled as 1 and the other patients were labelled as 0. The first 123 patients in chronological order were used as training set, and the rest patients as validation set. 563 image features extracted from the DWI data and clinical characteristics were used as features. Two-sample T test was conducted to pre-select the top 50% discriminating features. Least absolute shrinkage and selection operator (Lasso)-Logistic regression model was conducted to further select features and construct the classification model. Based on the 14 selected image features, the area under the Receiver Operating Characteristic (ROC) curve (AUC) of 0.8781, classification Accuracy (ACC) of 0.8432 were achieved in the training set. In the validation set, AUC of 0.8707, ACC (ACC) of 0.84 were observed.

[Clinical features and comorbidities of Asperger syndrome in children].

PubMed

Fu, Xiao-Yan; Xie, Xiao-Tian; Mei, Zhu; Cheng, Wen-Hong

2013-09-01

To investigate and summarize the clinical features and comorbidities of Asperger syndrome (AS) in children and to provide a theoretical basis for improving the understanding and diagnosis of AS. Inquiry of medical history, physical examination, behavioral observation, psychiatric examination, questionnaire survey, and the Wechsler Intelligence Scale were used to summarize and analyse the clinical data of 95 children with AS, including chief complaint, symptoms, perinatal and familial conditions, family genetic history, and common comorbidities. AS was more common in male children, with hyperactivity, inattention, and social withdrawal as frequent chief complaints. The main clinical manifestations included poor communication skills (95%), restricted interest (82%), repetitive and stereotyped patterns of behavior (77%), semantic comprehension deficit (74%), and indiscipline (68%). Verbal IQ was higher than performance IQ in most patients. The comorbidities of AS included attention deficit hyperactivity disorder (ADHD) (39%), emotional disorder (18%), and schizophrenia (2%); emotional disorder was more common in patients aged 13-16 years, while ADHD was more common in patients aged 7-16 years. Among these patients, 61% had fathers with introverted personality, 43% had mothers with introverted personality, and 19% had a family history of mental illness. AS has specific clinical manifestations. It is essential to know more about the clinical features and comorbidities of AS, which is helpful for early identification and diagnosis of AS.

Sociodemographic and clinical features of patients with depressive disorder in Khartoum, Sudan.

PubMed

Najim, Hellme; Omer, Abdelaziz Ahmed

2015-09-01

It's known worldwide that depression is becoming a major health problem and its prevalence is increasing. The main objective of this study is to find out the prevalence of depression among patients attending a general psychiatric clinic, and study their sociodemographic and clinical features. Files of patients attending a private psychiatric clinic in Khartoum in the period June 2005-June 2010 were reviewed. Only those with a diagnosis of depression were chosen, sociodemographic date and clinical features were documented and results were shown below. Total numbers of patients with depression were 137 (11.4%). Females were more than males (56.2%), the majority are between ages 41-60 (40.9%), married (65%), (14.9%) had family history of psychiatric disorders and (52%) had a previous history of psychiatric treatment. Depressed mood is the commonest symptom (98.5%), loss of interest (91.9%), reduced energy (57%), guilt feelings (17.9%) and (35.8%) of our samples expressed suicidal ideations. The commonest type of somatic symptom is generalized aches and pain (30.7%), (18%) were psychotic. The present study is a retrospective descriptive study, based on a private psychiatric clinic sample. It provided a useful baseline for more comprehensive field based studies, to try to aid planning and development of services to meet the needs of the population.

Prognostic utility of the 21-gene assay in hormone receptor-positive operable breast cancer compared with classical clinicopathologic features.

PubMed

Goldstein, Lori J; Gray, Robert; Badve, Sunil; Childs, Barrett H; Yoshizawa, Carl; Rowley, Steve; Shak, Steven; Baehner, Frederick L; Ravdin, Peter M; Davidson, Nancy E; Sledge, George W; Perez, Edith A; Shulman, Lawrence N; Martino, Silvana; Sparano, Joseph A

2008-09-01

Adjuvant! is a standardized validated decision aid that projects outcomes in operable breast cancer based on classical clinicopathologic features and therapy. Genomic classifiers offer the potential to more accurately identify individuals who benefit from chemotherapy than clinicopathologic features. A sample of 465 patients with hormone receptor (HR) -positive breast cancer with zero to three positive axillary nodes who did (n = 99) or did not have recurrence after chemohormonal therapy had tumor tissue evaluated using a 21-gene assay. Histologic grade and HR expression were evaluated locally and in a central laboratory. Recurrence Score (RS) was a highly significant predictor of recurrence, including node-negative and node-positive disease (P < .001 for both) and when adjusted for other clinical variables. RS also predicted recurrence more accurately than clinical variables when integrated by an algorithm modeled after Adjuvant! that was adjusted to 5-year outcomes. The 5-year recurrence rate was only 5% or less for the estimated 46% of patients who have a low RS (< 18). The 21-gene assay was a more accurate predictor of relapse than standard clinical features for individual patients with HR-positive operable breast cancer treated with chemohormonal therapy and provides information that is complementary to features typically used in anatomic staging, such as tumor size and lymph node involvement. The 21-gene assay may be used to select low-risk patients for abbreviated chemotherapy regimens similar to those used in our study or high-risk patients for more aggressive regimens or clinical trials evaluating novel treatments.

Incidence of right-sided colonic tumors (non-appendiceal) in patient's ≥40 years of age presenting with features of acute appendicitis.

PubMed

Khan, Suhail Aslam; Khokhar, Haseeb Anwar; Nasr, A R H; Carton, Eleanor

2013-01-01

Non-appendiceal tumors can mimic and present with clinical features of acute appendicitis in patients of age 40 years or above. The aim of this prospective study is to investigate the incidence of right-sided (non-appendiceal) colonic tumors in patients presenting with clinical features of acute appendicitis. A prospective data analysis of 1662 patients using appendectomy database was performed from 2005 to 2011. Patients above age 40 years or older were included. Patients were compared for demographic data, clinical presentation, radiological findings, operative technique & findings, histo-pathological findings and postoperative complications. The primary outcome was incidence of right-sided colonic (non-appendiceal) tumors presenting with features of acute appendicitis. Secondary outcomes measured were, role of diagnostic radiology, negative appendectomy rate, length of stay and changing trends in operative techniques. From 1662 patients initially reviewed, only 179 patients (10.77%) age 40 years or above mean (56 ± 11.75), median 54 (40-89), with clinical features of acute appendicitis were included in the final analysis. F:M ratio was (1:1.06). CT scan showed in only 1 patient (1.25%, OR = 0.806, p = 0.695), suspicion of cecal tumor and underwent right hemicolectomy. Histological examination of specimen showed, 2 patients (1.11%, OR = 1.10, p = 0.47) had primary appendiceal tumors, in which one patient was histologically reported as appendiceal mucocele (mucinous cystadenoma with low-grade dysplasia), while the other one had appendeceal carcinoid (Goblet cell carcinoid). In the other tumor group one patient had metastatic involvement of appendix from ovarian tumor. The time to appendectomy in radiological group was delayed by (9.2 ± 3.7 h). 131 (73.1%) had laparoscopic while 48 (26.81%) underwent open appendectomy. The negative appendectomy rate was (1.12%) and 30 days complication rate was (11.73%, p = 0.27). Mean length of stay was 3.54 ± 2.1 days. Right-sided colonic (cecal) tumors rarely present with features of acute appendicitis. Only those patients with atypical presentation and findings should have pre-operative radiological evaluation. Copyright © 2013 Surgical Associates Ltd. Published by Elsevier Ltd. All rights reserved.

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.

PubMed

Pereda, Arrate; Garin, Intza; Perez de Nanclares, Guiomar

2018-03-02

Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright's hereditary osteodystrophy (AHO) phenotype, which is characterized by small stature, obesity with a rounded face, subcutaneous ossifications, mental retardation and brachydactyly, its manifestations are somewhat variable. Indeed, some of them present with a complete phenotype, whereas others show only subtle manifestations. In addition, the features of the AHO phenotype are not specific to it and a similar phenotype is also commonly observed in other syndromes. Brachydactyly type E (BDE) is the most specific and objective feature of the AHO phenotype, and several genes have been associated with syndromic BDE in the past few years. Moreover, these syndromes have a skeletal and endocrinological phenotype that overlaps with AHO/PHP. In light of the above, we have developed an algorithm to aid in genetic testing of patients with clinical features of AHO but with no causative molecular defect at the GNAS locus. Starting with the feature of brachydactyly, this algorithm allows the differential diagnosis to be broadened and, with the addition of other clinical features, can guide genetic testing. We reviewed our series of patients (n = 23) with a clinical diagnosis of AHO and with brachydactyly type E or similar pattern, who were negative for GNAS anomalies, and classify them according to the diagnosis algorithm to finally propose and analyse the most probable gene(s) in each case. A review of the clinical data for our series of patients, and subsequent analysis of the candidate gene(s), allowed detection of the underlying molecular defect in 12 out of 23 patients: five patients harboured a mutation in PRKAR1A, one in PDE4D, four in TRPS1 and two in PTHLH. This study confirmed that the screening of other genes implicated in syndromes with BDE and AHO or a similar phenotype is very helpful for establishing a correct genetic diagnosis for those patients who have been misdiagnosed with "AHO-like phenotype" with an unknown genetic cause, and also for better describing the characteristic and differential features of these less common syndromes.

Kindler syndrome: a study of five Egyptian cases with evaluation of severity.

PubMed

Nofal, Eman; Assaf, Magda; Elmosalamy, Khaled

2008-07-01

Kindler syndrome (KS) is a rare genodermatosis characterized by four major features (acral blisters, photosensitivity, poikiloderma, and cutaneous atrophy) and many associated findings. The diagnosis of KS includes clinical features, ultrastructural findings, and, recently, immunostaining and genetic studies. Varying degrees of severity of the syndrome have been described. Five patients with clinical features consistent with KS were included in this study. All patients were subjected to histopathologic and ultrastructural studies. Cases 1 and 2 presented with severe major features, severe mucosal involvement, and many other associated findings. Case 3 presented with severe major features, but mild and limited mucosal involvement and other associated findings. Cases 4 and 5 showed mild major features and few other findings. Histopathology revealed nonspecific poikiloderma. Marked thickening of the lamina densa and splitting of the lamina lucida were the main ultrastructural findings. KS may be classified into mild, moderate, and severe according to the severity of the major features and mucosal involvement. Because histopathologic and ultrastructural findings are not pathognomonic, clinical features remain the mainstay for the diagnosis of KS, and the need for immunostaining with kindlin antibody and genetic studies may be restricted to early cases with incomplete features.

Clinical usefulness of temporal artery biopsy.

PubMed Central

Vilaseca, J; González, A; Cid, M C; Lopez-Vivancos, J; Ortega, A

1987-01-01

To assess the diagnostic usefulness of temporal artery biopsy in temporal arteritis (TA) and establish clinical features capable of predicting its positivity we have retrospectively studied the biopsy specimens and the clinical features of 103 patients who had undergone temporal artery biopsy. Temporal artery biopsy reached a positive predictive value of 90.2% with respect to the final diagnosis based on the criteria proposed by Ellis and Ralston and the clinical course. The simultaneous presence of recent onset headache, jaw claudication, and abnormalities of the temporal arteries on physical examination had a specificity of 94.8% with respect to the histological diagnosis and of 100% with respect to final diagnosis. The presence of any of these clinical features, though of little specificity (34.4%), had a sensitivity of 100% with respect to histological diagnosis, selecting a group of patients in whom temporal artery biopsy has more discriminative value. PMID:3592783

Finger extension weakness and downbeat nystagmus motor neuron disease syndrome: A novel motor neuron disorder?

PubMed

Delva, Aline; Thakore, Nimish; Pioro, Erik P; Poesen, Koen; Saunders-Pullman, Rachel; Meijer, Inge A; Rucker, Janet C; Kissel, John T; Van Damme, Philip

2017-12-01

Disturbances of eye movements are infrequently encountered in motor neuron diseases (MNDs) or motor neuropathies, and there is no known syndrome that combines progressive muscle weakness with downbeat nystagmus. To describe the core clinical features of a syndrome of MND associated with downbeat nystagmus, clinical features were collected from 6 patients. All patients had slowly progressive muscle weakness and wasting in combination with downbeat nystagmus, which was clinically most obvious in downward and lateral gaze. Onset was in the second to fourth decade with finger extension weakness, progressing to other distal and sometimes more proximal muscles. Visual complaints were not always present. Electrodiagnostic testing showed signs of regional motor axonal loss in all patients. The etiology of this syndrome remains elusive. Because finger extension weakness and downbeat nystagmus are the discriminating clinical features of this MND, we propose the name FEWDON-MND syndrome. Muscle Nerve 56: 1164-1168, 2017. © 2017 The Authors Muscle & Nerve Published by Wiley Periodicals, Inc.

Finger extension weakness and downbeat nystagmus motor neuron disease syndrome: A novel motor neuron disorder?

PubMed Central

Delva, Aline; Thakore, Nimish; Pioro, Erik P.; Poesen, Koen; Saunders‐Pullman, Rachel; Meijer, Inge A.; Rucker, Janet C.; Kissel, John T.

2017-01-01

ABSTACT Introduction: Disturbances of eye movements are infrequently encountered in motor neuron diseases (MNDs) or motor neuropathies, and there is no known syndrome that combines progressive muscle weakness with downbeat nystagmus. Methods: To describe the core clinical features of a syndrome of MND associated with downbeat nystagmus, clinical features were collected from 6 patients. Results: All patients had slowly progressive muscle weakness and wasting in combination with downbeat nystagmus, which was clinically most obvious in downward and lateral gaze. Onset was in the second to fourth decade with finger extension weakness, progressing to other distal and sometimes more proximal muscles. Visual complaints were not always present. Electrodiagnostic testing showed signs of regional motor axonal loss in all patients. Discussion: The etiology of this syndrome remains elusive. Because finger extension weakness and downbeat nystagmus are the discriminating clinical features of this MND, we propose the name FEWDON‐MND syndrome. Muscle Nerve 56: 1164–1168, 2017 PMID:28440863

Motivation factors for suicidal behavior and their clinical relevance in admitted psychiatric patients.

PubMed

Hayashi, Naoki; Igarashi, Miyabi; Imai, Atsushi; Yoshizawa, Yuka; Asamura, Kaori; Ishikawa, Yoichi; Tokunaga, Taro; Ishimoto, Kayo; Tatebayashi, Yoshitaka; Harima, Hirohiko; Kumagai, Naoki; Ishii, Hidetoki; Okazaki, Yuji

2017-01-01

Suicidal behavior (SB) is a major, worldwide health concern. To date there is limited understanding of the associated motivational aspects which accompany this self-initiated conduct. To develop a method for identifying motivational features associated with SB by studying admitted psychiatric patients, and to examine their clinical relevance. By performing a factor analytic study using data obtained from a patient sample exhibiting high suicidality and a variety of SB methods, Motivations for SB Scale (MSBS) was constructed to measure the features. Data included assessments of DSM-IV psychiatric and personality disorders, suicide intent, depressive symptomatology, overt aggression, recent life events (RLEs) and methods of SB, collated from structured interviews. Association of identified features with clinical variables was examined by correlation analyses and MANCOVA. Factor analyses elicited a 4-factor solution composed of Interpersonal-testing (IT), Interpersonal-change (IC), Self-renunciation (SR) and Self-sustenance (SS). These factors were classified according to two distinctions, namely interpersonal vs. intra-personal directedness, and the level of assumed influence by SB or the relationship to prevailing emotions. Analyses revealed meaningful links between patient features and clinical variables. Interpersonal-motivations (IT and IC) were associated with overt aggression, low suicidality and RLE discord or conflict, while SR was associated with depression, high suicidality and RLE separation or death. Borderline personality disorder showed association with IC and SS. When self-strangulation was set as a reference SB method, self-cutting and overdose-taking were linked to IT and SS, respectively. The factors extracted in this study largely corresponded to factors from previous studies, implying that they may be useful in a wider clinical context. The association of these features with SB-related factors suggests that they constitute an integral part of the process leading to SB. These results provide a base for further research into clinical strategies for patient management and therapy.

Latent topic discovery of clinical concepts from hospital discharge summaries of a heterogeneous patient cohort.

PubMed

Lehman, Li-Wei; Long, William; Saeed, Mohammed; Mark, Roger

2014-01-01

Patients in critical care often exhibit complex disease patterns. A fundamental challenge in clinical research is to identify clinical features that may be characteristic of adverse patient outcomes. In this work, we propose a data-driven approach for phenotype discovery of patients in critical care. We used Hierarchical Dirichlet Process (HDP) as a non-parametric topic modeling technique to automatically discover the latent "topic" structure of diseases, symptoms, and findings documented in hospital discharge summaries. We show that the latent topic structure can be used to reveal phenotypic patterns of diseases and symptoms shared across subgroups of a patient cohort, and may contain prognostic value in stratifying patients' post hospital discharge mortality risks. Using discharge summaries of a large patient cohort from the MIMIC II database, we evaluate the clinical utility of the discovered topic structure in identifying patients who are at high risk of mortality within one year post hospital discharge. We demonstrate that the learned topic structure has statistically significant associations with mortality post hospital discharge, and may provide valuable insights in defining new feature sets for predicting patient outcomes.

A comparison of the clinical, haemodynamic and angiographic features in right ventricular endomyocardial fibrosis and Ebstein's anomaly of the tricuspid valve.

PubMed

Balakrishnan, K G; Sapru, R P; Sasidharan, K; Venkitachalam, C G

1982-01-01

The clinical, haemodynamic and angiographic features of 18 patients with right ventricular endomyocardial fibrosis (RVEMF) and 8 patients with Ebstein's anomaly of the tricuspid valve (EATV) have been compared. Diagnosis was confirmed by selective angiography. The position of the tricuspid annulus was identified from selective right ventricular angiograms and confirmed by selective right coronary angiography. In 83% of RVEMF patients the tricuspid annulus was displaced to the left of the spine. A false impression of displacement of the tricuspid leaflet can thus be created. However, a tricuspid leaflet displaced away from the tricuspid annulus was found only in patients with EATV. A considerable overlap exists between the wide spectrum of clinical presentations of the two conditions. Helpful distinguishing features that favour EATV were, the presence of a scratchy diastolic murmur and polyphasic QRS complexes in the ECG. Atrial fibrillation in the ECG, and myocardial calcification or pericardial effusion, whenever present, favour RVEMF.

Outbreak of multidrug-resistant acute postoperative endophthalmitis due to Enterobacter aerogenes.

PubMed

Bhat, Shailaja S; Undrakonda, Vivekanand; Mukhopadhyay, Chiranjay; Parmar, Prachi Vikramsinh

2014-04-01

To report the clinical features, management, and outcome of 7 cases of culture-proven multidrug-resistant Enterobacter postoperative endophthalmitis following cataract surgery. Medical records of 7 cases of acute postoperative endophthalmitis after uneventful cataract surgery were reviewed. Details regarding age, gender, visual acuity and clinical features at presentation, microbiological profile, treatment interventions, and visual acuity and clinical features at 1 week, 1 month, and 3 months follow-up were collected. All patients reported decreased visual acuity and pain as presenting symptoms. All patients were resistant to intravitreal antibiotics such as vancomycin (1 mg/0.1 mL) and ceftazidime (2.25 mg/0.1 mL). Culture of aqueous and vitreous sample was positive for Enterobacter aerogenes and sensitive to co-trimoxazole, cefoperazone-sulbactam, imipenem-meropenem, and piperacillin-tazobactem. Two patients with panophthalmitis and no perception of light underwent evisceration. Three patients had visual acuity of ≥6/24 at the final follow-up. Multidrug-resistant Enterobacter acute postoperative endophthalmitis has a poor prognosis if not intercepted early.

Pituitary xanthogranulomas: clinical features, radiological appearances and post-operative outcomes.

PubMed

Ved, R; Logier, N; Leach, P; Davies, J S; Hayhurst, C

2018-06-01

Xanthogranulomas are inflammatory masses most commonly found at peripheral sites such as the skin. Sellar and parasellar xanthogranulomas are rare and present a diagnostic challenge as they are difficult to differentiate from other sellar lesions such as craniopharyngiomas and Rathke's cleft cysts pre-operatively. Their radiological imaging features are yet to be clearly defined, and clinical outcomes after surgery are also uncertain. This study reviews clinical presentation, radiological appearances, and clinical outcomes in a cohort of patients with pituitary xanthogranulomas. A prospectively maintained pituitary surgery database was screened for histologically confirmed pituitary xanthogranulomas between May 2011-December 2016. Retrospective case note assessments were then performed by three independent reviewers. Patient demographics, clinical presentations, imaging, and clinical outcomes were analysed. During the study period 295 endoscopic endonasal pituitary surgeries were performed. Six patients had confirmed pituitary xanthogranulomas (2%). Patients most commonly presented with visual field deficits and/or endocrine dysfunction. Common imaging features included: a cystic consistency, hyperintensity on T1-weighted MR images, and contrast enhancement either peripherally (n = 3) or homogenously (n = 3). The most common pre-operative endocrine deficits were hyperprolactinaemia and hypoadrenalism (at least one of which was identified in 4/6 patients; 66%). Thirty-three percent (2/6) of patients presented with diabetes insipidus. The most common post-operative endocrinological deficits were adrenocortical dysfunction (66%) and gonadotropin deficiency (66%). Visual assessments normalised in all six patients post-operatively. Gross total resection was achieved in all patients, and at median follow up of 33.5 months there were no cases of tumour recurrence. The prevalence of pituitary xanthogranulomas in our series is higher than that suggested in the literature. Surgery restored normal vision to all cases, however four patients (67%) required long-term hormonal replacement post-operatively. Imaging features such peripheral rim enhancement, a suprasellar tumour epicentre, and the absence of both calcification or cavernous sinus invasion were identified as potential indicators that together should alert clinicians to the possibility of pituitary xanthogranuloma when assessing patients with cystic sellar and parasellar tumours.

The motor and cognitive features of Parkinson's disease in patients with concurrent Gaucher disease over 2 years: a case series.

PubMed

Collins, Lucy M; Williams-Gray, Caroline H; Morris, Elizabeth; Deegan, Patrick; Cox, Timothy M; Barker, Roger A

2018-05-29

We report the cognitive features and progression of Parkinson's disease (PD) in five patients with concurrent Gaucher disease. The patients presented at an earlier age than patients with sporadic PD, as previously noted by others; but in contrast to many previous reports, our patients followed a variable clinical course. While two patients developed early cognitive deficits and dementia, three others remained cognitively intact over the follow-up period. Thus, in this small case series, PD in the context of GD more closely resembles idiopathic PD in terms of its clinical heterogeneity in contrast to PD associated with GBA heterozygote mutations.

Correlation between Clinical Features and Magnetic Resonance Imaging Findings in Lumbar Disc Prolapse.

PubMed

Thapa, S S; Lakhey, R B; Sharma, P; Pokhrel, R K

2016-05-01

Magnetic resonance imaging is routinely done for diagnosis of lumbar disc prolapse. Many abnormalities of disc are observed even in asymptomatic patient.This study was conducted tocorrelate these abnormalities observed on Magnetic resonance imaging and clinical features of lumbar disc prolapse. A This prospective analytical study includes 57 cases of lumbar disc prolapse presenting to Department of Orthopedics, Tribhuvan University Teaching Hospital from March 2011 to August 2012. All patientshad Magnetic resonance imaging of lumbar spine and the findings regarding type, level and position of lumbar disc prolapse, any neural canal or foraminal compromise was recorded. These imaging findings were then correlated with clinical signs and symptoms. Chi-square test was used to find out p-value for correlation between clinical features and Magnetic resonance imaging findings using SPSS 17.0. This study included 57 patients, with mean age 36.8 years. Of them 41(71.9%) patients had radicular leg pain along specific dermatome. Magnetic resonance imaging showed 104 lumbar disc prolapselevel. Disc prolapse at L4-L5 and L5-S1 level constituted 85.5%.Magnetic resonance imaging findings of neural foramina compromise and nerve root compression were fairly correlated withclinical findings of radicular pain and neurological deficit. Clinical features and Magnetic resonance imaging findings of lumbar discprolasehad faircorrelation, but all imaging abnormalities do not have a clinical significance.

Patient journeys: diagnosis and treatment of pernicious anaemia.

PubMed

Hooper, Martyn; Hudson, Peter; Porter, Fiona; McCaddon, Andrew

Instigating a patient support group for patients with pernicious anaemia (PA) revealed dissatisfaction with its current diagnosis and treatment. The authors investigated the clinical features, patient experience of diagnosis and treatment of PA in the UK. A total of 889 patients registered with the PA Society support group completed an online survey or postal questionnaire. Outcome measures included clinical features, length of time to diagnosis and patient satisfaction with current treatment One-third of patients experienced symptoms for up to 1 year before diagnosis; 14% waited more than 10 years for a diagnosis. Neurological features were highly prevalent, the most common being memory loss and poor concentration. Nearly two-thirds of respondents were dissatisfied with current treatment; 10% used a non-licensed form of B12 to supplement their prescribed injections. The diagnosis and treatment of PA should be subject to a thorough review. This article discusses the patient survey and results and makes recommendations for how the diagnosis and treatment of PA may be evaluated.

Dedifferentiated chondrosarcoma of the larynx: Radiological, gross, microscopic and clinical features.

PubMed

Magliocca, Kelly R; Edgar, Mark A; Corey, Amanda; Villari, Craig R

2017-10-01

Laryngeal chondrosarcoma is an uncommon malignancy with a predilection for the cricoid cartilage of adult male patients. Although rare, identification of aggressive chondrosarcoma variants, such as dedifferentiated chondrosarcoma (DDCS) may influence preoperative patient counseling, definitive surgical management, potential implementation of post-operative adjuvant therapy and prognosis. Herein we describe clinical and imaging features of laryngeal DDCS, the unique perspective of fresh and formalin fixed macroscopic examination, a spectrum of histopathologic findings, and detail the full course of the patient's disease. Copyright © 2017 Elsevier Inc. All rights reserved.

Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.

PubMed

Cho, S Y; Yoon, Y A; Ki, C-S; Huh, H J; Yoo, H-W; Lee, B H; Kim, G-H; Yoo, J-H; Kim, S-Y; Kim, S J; Sohn, Y B; Park, S W; Huh, R; Chang, M S; Lee, J; Kwun, Y; Maeng, S H; Jin, D-K

2013-10-01

Pseudohypoparathyroidism (PHP) is defined as resistance toward parathyroid hormones. PHP and pseudopseudohypoparathyroidism (PPHP) are rare disorders resulting from genetic and epigenetic aberrations within or upstream of the GNAS locus. This study investigated the clinical characteristics and performed a molecular analysis of PHP and PPHP. A total of 12 patients with (P)PHP from 11 unrelated families (4 with PHP-Ia, 6 with PHP-Ib, and 2 with PPHP) were characterized using both clinical and molecular methods. Clinical features included the presenting symptoms, Albright hereditary osteodystrophy features, and resistance to hormones. Comprehensive analysis of the GNAS and STX16 loci was undertaken to investigate the molecular defects underlying (P)PHP. All PHP-Ib patients displayed hypocalcemic symptoms. All PHP-Ia patients showed resistance toward TSH, in addition to PTH. In most patients with PHP, when the diagnosis of PHP was first established, hypocalcemia and hyperphosphatemia were associated with a significant increase in serum PTH levels. One patient with PHP-Ia was diagnosed with growth hormone deficiency and showed a good response to human recombinant growth hormone therapy. 6 patients with PHP-Ia and PPHP showed 5 different mutations in the GNAS gene. 5 patients with PHP-Ib displayed a loss of differentially methylated region (DMR) imprints of the maternal GNAS. One PHP-Ib patient showed a de novo microdeletion in STX16 and a loss of methylation of exon A/B on the maternal allele. No patients revealed paternal disomy among 4 patients with PHP-Ib. Identification of the molecular causes of PHP and PPHP explains their distinctive clinical features and enables confirmation of the diagnosis and exact genetic counseling. © J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York.

The clinical manifestations and survival of systemic lupus erythematosus patients in Turkey: report from two centers.

PubMed

Pamuk, O N; Akbay, F G; Dönmez, S; Yilmaz, N; Calayir, G B; Yavuz, S

2013-11-01

Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with a variety of clinical features. Survival has become longer as a result of better treatment modalities and better supportive care. There is no information on survival of SLE patients in Turkey. We evaluated clinical features and survival in SLE patients in two rheumatology departments. All SLE patients being followed up by the Department of Rheumatology, Trakya University Medical Faculty, and the Department of Rheumatology, Marmara University Medical Faculty, over the 1996-2012 period were included. Patients were diagnosed with SLE if they fulfilled at least four American College of Rheumatology (ACR) criteria. The clinical and laboratory features, mortality data were obtained from medical charts. We had 428 SLE patients, and women (399 patients, 93.2%) far outnumbered men (29 patients, 6.8%). The mean age at the time of SLE diagnosis was 40.3 ± 12.4 years. The most frequent clinical manifestations were arthritis (76.9%) and photosensitivity (70.1%). Renal disease was present in 32.9% of patients and neurological involvement in 12.9% of patients. After a median follow-up of 60 months, 19 patients died. The most frequent causes of death were ischemic heart disease, chronic renal failure and sepsis. The rate of five-year survival was 96%; 10-year survival, 92%; and 15-year survival, 88.8%. Multivariate Cox analysis showed that serositis at the time of diagnosis, SLE disease activity index (SLEDAI) score 6, and autoimmune hemolytic anemia were independent prognostic factors. Data from two centers in Northwestern Turkey show that the mortality rate for SLE is similar to the rate in Western countries.

Mercury Toxicity Following Unauthorized Siddha Medicine Intake – A Mimicker of Acquired Neuromyotonia - Report of 32 Cases

PubMed Central

Gnanashanmugam, G.; Balakrishnan, R.; Somasundaram, S. P.; Parimalam, N.; Rajmohan, P.; Pranesh, M. B.

2018-01-01

Context: Mercury is used extensively in the preparation of Siddha medicines, after purification. In this study, we present 32 patients of mercury toxicity following unauthorized Siddha medicine intake who mimicked neuromyotonia clinically. We analyzed the clinical features of these patients, the role of autoimmunity in etiopathology, and compared it with acquired neuromyotonia. Subjects and Methods: This is a retrospective study to analyze inpatients in a tertiary care center, admitted with mercury toxicity following Siddha medicine intake from August 2012 to October 2016. We analyzed the clinical features, laboratory data including mercury, arsenic and lead levels in blood, and serum voltage-gated potassium channels (VGKC)-CASPR2 Ab in selected patients. Results: Thirty-two patients who had high blood mercury levels following Siddha medicine intake were included in the study. All patients (100%) had severe intractable neuropathic pain predominantly involving lower limbs. Twenty-six (81.25%) patients had fasciculations and myokymia. Fifteen patients (46.86%) had autonomic dysfunction (postural hypotension and resting tachycardia). Nine (28.12%) patients had encephalopathic features such as dullness, apathy, drowsiness, or delirium. Anti-VGKC Ab was positive in 12 patients with myokymia. All the patients in the study consumed Siddha medicines obtained from unauthorized dealers. Conclusions: Mercury toxicity following Siddha medicine intake closely mimics acquired neuromyotonia; severe intolerable neuropathic pain is the hallmark feature; Positive VGKC-CASPR2 antibody in some patients must be due to triggered autoimmunity secondary to mercury toxicity due to Siddha medicine intake. The government should establish licensing system to prevent distribution of unauthorized Siddha medicines. PMID:29720798

Mercury Toxicity Following Unauthorized Siddha Medicine Intake - A Mimicker of Acquired Neuromyotonia - Report of 32 Cases.

PubMed

Gnanashanmugam, G; Balakrishnan, R; Somasundaram, S P; Parimalam, N; Rajmohan, P; Pranesh, M B

2018-01-01

Mercury is used extensively in the preparation of Siddha medicines, after purification. In this study, we present 32 patients of mercury toxicity following unauthorized Siddha medicine intake who mimicked neuromyotonia clinically. We analyzed the clinical features of these patients, the role of autoimmunity in etiopathology, and compared it with acquired neuromyotonia. This is a retrospective study to analyze inpatients in a tertiary care center, admitted with mercury toxicity following Siddha medicine intake from August 2012 to October 2016. We analyzed the clinical features, laboratory data including mercury, arsenic and lead levels in blood, and serum voltage-gated potassium channels (VGKC)-CASPR2 Ab in selected patients. Thirty-two patients who had high blood mercury levels following Siddha medicine intake were included in the study. All patients (100%) had severe intractable neuropathic pain predominantly involving lower limbs. Twenty-six (81.25%) patients had fasciculations and myokymia. Fifteen patients (46.86%) had autonomic dysfunction (postural hypotension and resting tachycardia). Nine (28.12%) patients had encephalopathic features such as dullness, apathy, drowsiness, or delirium. Anti-VGKC Ab was positive in 12 patients with myokymia. All the patients in the study consumed Siddha medicines obtained from unauthorized dealers. Mercury toxicity following Siddha medicine intake closely mimics acquired neuromyotonia; severe intolerable neuropathic pain is the hallmark feature; Positive VGKC-CASPR2 antibody in some patients must be due to triggered autoimmunity secondary to mercury toxicity due to Siddha medicine intake. The government should establish licensing system to prevent distribution of unauthorized Siddha medicines.

Circulating D-dimer level correlates with disease characteristics in hepatoblastoma patients

PubMed Central

Zhang, BinBin; Liu, GongBao; Liu, XiangQi; Zheng, Shan; Dong, Kuiran; Dong, Rui

2017-01-01

Abstract Objectives: Hepatoblastoma (HB) is the most common pediatric liver malignancy, typically affecting children within the first 4 years of life. However, only a few validated blood biomarkers are used in clinical evaluation. The current study explored the clinical application and significance of D-dimer levels in patients with HB. Method: Forty-four patients with HB were included in this retrospective study. D-dimer and plasma fibrinogen levels were examined, and their correlation with other clinical features was analyzed. D-dimer and plasma fibrinogen levels were examined between HB and other benign hepatic tumors. Results: D-dimer levels were significantly associated with high-risk HB features, such as advanced stage and high α-fetoprotein (AFP) levels. Higher D-dimer levels were observed in stage 4 patients compared with stage 1/2/3 patients (P = .028). Higher D-dimer levels were also observed in patients with higher AFP levels before chemotherapy compared with patients with lower AFP levels after chemotherapy (P< 0.001). In addition, higher D-dimer levels were observed in HB compared with other benign hepatic tumors such as hepatic hemangioma and hepatocellular adenoma (P = .012). No significant difference in D-dimer levels was found between sex (P = .503) and age (≥12 vs <12 months, P = .424). There was no significant difference in plasma fibrinogen levels between sex or age and high-risk HB features, such as advanced stage and high AFP levels. Conclusions: Elevated D-dimer levels could be a useful determinant biomarker for high-risk features in patients with HB. This finding also supports the clinical application of D-dimer in HB. PMID:29381980

Relational Network for Knowledge Discovery through Heterogeneous Biomedical and Clinical Features

PubMed Central

Chen, Huaidong; Chen, Wei; Liu, Chenglin; Zhang, Le; Su, Jing; Zhou, Xiaobo

2016-01-01

Biomedical big data, as a whole, covers numerous features, while each dataset specifically delineates part of them. “Full feature spectrum” knowledge discovery across heterogeneous data sources remains a major challenge. We developed a method called bootstrapping for unified feature association measurement (BUFAM) for pairwise association analysis, and relational dependency network (RDN) modeling for global module detection on features across breast cancer cohorts. Discovered knowledge was cross-validated using data from Wake Forest Baptist Medical Center’s electronic medical records and annotated with BioCarta signaling signatures. The clinical potential of the discovered modules was exhibited by stratifying patients for drug responses. A series of discovered associations provided new insights into breast cancer, such as the effects of patient’s cultural background on preferences for surgical procedure. We also discovered two groups of highly associated features, the HER2 and the ER modules, each of which described how phenotypes were associated with molecular signatures, diagnostic features, and clinical decisions. The discovered “ER module”, which was dominated by cancer immunity, was used as an example for patient stratification and prediction of drug responses to tamoxifen and chemotherapy. BUFAM-derived RDN modeling demonstrated unique ability to discover clinically meaningful and actionable knowledge across highly heterogeneous biomedical big data sets. PMID:27427091

Relational Network for Knowledge Discovery through Heterogeneous Biomedical and Clinical Features

NASA Astrophysics Data System (ADS)

Chen, Huaidong; Chen, Wei; Liu, Chenglin; Zhang, Le; Su, Jing; Zhou, Xiaobo

2016-07-01

Biomedical big data, as a whole, covers numerous features, while each dataset specifically delineates part of them. “Full feature spectrum” knowledge discovery across heterogeneous data sources remains a major challenge. We developed a method called bootstrapping for unified feature association measurement (BUFAM) for pairwise association analysis, and relational dependency network (RDN) modeling for global module detection on features across breast cancer cohorts. Discovered knowledge was cross-validated using data from Wake Forest Baptist Medical Center’s electronic medical records and annotated with BioCarta signaling signatures. The clinical potential of the discovered modules was exhibited by stratifying patients for drug responses. A series of discovered associations provided new insights into breast cancer, such as the effects of patient’s cultural background on preferences for surgical procedure. We also discovered two groups of highly associated features, the HER2 and the ER modules, each of which described how phenotypes were associated with molecular signatures, diagnostic features, and clinical decisions. The discovered “ER module”, which was dominated by cancer immunity, was used as an example for patient stratification and prediction of drug responses to tamoxifen and chemotherapy. BUFAM-derived RDN modeling demonstrated unique ability to discover clinically meaningful and actionable knowledge across highly heterogeneous biomedical big data sets.

Clinical features and course of ocular toxocariasis in adults.

PubMed

Ahn, Seong Joon; Woo, Se Joon; Jin, Yan; Chang, Yoon-Seok; Kim, Tae Wan; Ahn, Jeeyun; Heo, Jang Won; Yu, Hyeong Gon; Chung, Hum; Park, Kyu Hyung; Hong, Sung Tae

2014-06-01

To investigate the clinical features, clinical course of granuloma, serologic findings, treatment outcome, and probable infection sources in adult patients with ocular toxocariasis (OT). In this retrospective cohort study, we examined 101 adult patients diagnosed clinically and serologically with OT. Serial fundus photographs and spectral domain optical coherence tomography images of all the patients were reviewed. A clinic-based case-control study on pet ownership, occupation, and raw meat ingestion history was performed to investigate the possible infection sources. Among the patients diagnosed clinically and serologically with OT, 69.6% showed elevated immunoglobulin E (IgE) levels. Granuloma in OT involved all retinal layers and several vitreoretinal comorbidities were noted depending on the location of granuloma: posterior pole granuloma was associated with epiretinal membrane and retinal nerve fiber layer defects, whereas peripheral granuloma was associated with vitreous opacity. Intraocular migration of granuloma was observed in 15 of 93 patients (16.1%). Treatment with albendazole (400 mg twice a day for 2 weeks) and corticosteroids (oral prednisolone; 0.5-1 mg/kg/day) resulted in comparable outcomes to patients on corticosteroid monotherapy; however, the 6-month recurrence rate in patients treated with combined therapy (17.4%) was significantly lower than that in patients treated with corticosteroid monotherapy (54.5%, P=0.045). Ingestion of raw cow liver (80.8%) or meat (71.2%) was significantly more common in OT patients than healthy controls. Our study discusses the diagnosis, treatment, and prevention strategies for OT. Evaluation of total IgE, in addition to anti-toxocara antibody, can assist in the serologic diagnosis of OT. Combined albendazole and corticosteroid therapy may reduce intraocular inflammation and recurrence. Migrating feature of granuloma is clinically important and may further suggest the diagnosis of OT. Clinicians need to carefully examine comorbid conditions for OT. OT may be associated with ingestion of uncooked meat, especially raw cow liver, in adult patients.

Isolation of the Rare Opportunistic Yeast Saprochaete capitata from Clinical Samples-Experience from a Tertiary Care Hospital in Southern India and a Brief Review of the Literature

PubMed Central

Kancharla, Anuradha; Sudhaharan, Sukanya; Gundeti, Sadashivudu; Mandarapu, Surendra; Nagalla, Vamsi Krishna; Raju, Sree Bhushan; Karanam, Sandhya Devi

2017-01-01

Introduction Saprochaete capitata (Teleomorph: Magnusiomyces capitatus) is a ubiquitous yeast found in environmental sources such as soil, water, air, plants and dairy products. It is also a part of the normal microbial flora in humans. The yeast is being increasingly reported as an opportunistic pathogen, especially in patients in the haemato-oncology setting, the infection being often mistakenly diagnosed as invasive candidiasis. Aim To review the epidemiological, clinical and microbiological features of six patients admitted in our hospital over a period of 10 years (from January 2007 to December 2016), from whom Saprochaete capitata was isolated. Materials and Methods A retrospective study was conducted and the epidemiological, clinical, imaging and microbiological data of the six patients were collected and analysed. Results The age of the six patients ranged from 19 years to 65 years with a median age of 53 years. There were two males and four females. In three out of the six patients, the isolation of S. capitata was considered clinically significant as the yeast was isolated repeatedly from blood and/or respiratory specimens and the clinical features could not be explained by any other alternative diagnosis. Haematological malignancy was the underlying disease in three out of the six patients while one patient was on triple immunosuppression following renal transplantation four years back. Three out of the six patients had severe neutropenia with Absolute Neutrophil Count (ANC) ≤ 500 at the time of isolation of S. capitata. Two patients with clinical features of fungal sepsis received antifungal therapy with Amphotericin B but succumbed within a short period of starting the therapy. The post renal transplant patient who presented with pneumonia recovered after treatment with a combination of Amphotericin B and Voriconazole. Conclusion Awareness regarding the epidemiological, clinical and microbiological aspects of invasive infections caused by S. capitata is essential for early recognition and appropriate management. PMID:29207709

Clinical Features and Course of Ocular Toxocariasis in Adults

PubMed Central

Ahn, Seong Joon; Woo, Se Joon; Jin, Yan; Chang, Yoon-Seok; Kim, Tae Wan; Ahn, Jeeyun; Heo, Jang Won; Yu, Hyeong Gon; Chung, Hum; Park, Kyu Hyung; Hong, Sung Tae

2014-01-01

Purpose To investigate the clinical features, clinical course of granuloma, serologic findings, treatment outcome, and probable infection sources in adult patients with ocular toxocariasis (OT). Methods In this retrospective cohort study, we examined 101 adult patients diagnosed clinically and serologically with OT. Serial fundus photographs and spectral domain optical coherence tomography images of all the patients were reviewed. A clinic-based case-control study on pet ownership, occupation, and raw meat ingestion history was performed to investigate the possible infection sources. Results Among the patients diagnosed clinically and serologically with OT, 69.6% showed elevated immunoglobulin E (IgE) levels. Granuloma in OT involved all retinal layers and several vitreoretinal comorbidities were noted depending on the location of granuloma: posterior pole granuloma was associated with epiretinal membrane and retinal nerve fiber layer defects, whereas peripheral granuloma was associated with vitreous opacity. Intraocular migration of granuloma was observed in 15 of 93 patients (16.1%). Treatment with albendazole (400 mg twice a day for 2 weeks) and corticosteroids (oral prednisolone; 0.5–1 mg/kg/day) resulted in comparable outcomes to patients on corticosteroid monotherapy; however, the 6-month recurrence rate in patients treated with combined therapy (17.4%) was significantly lower than that in patients treated with corticosteroid monotherapy (54.5%, P = 0.045). Ingestion of raw cow liver (80.8%) or meat (71.2%) was significantly more common in OT patients than healthy controls. Conclusions Our study discusses the diagnosis, treatment, and prevention strategies for OT. Evaluation of total IgE, in addition to anti-toxocara antibody, can assist in the serologic diagnosis of OT. Combined albendazole and corticosteroid therapy may reduce intraocular inflammation and recurrence. Migrating feature of granuloma is clinically important and may further suggest the diagnosis of OT. Clinicians need to carefully examine comorbid conditions for OT. OT may be associated with ingestion of uncooked meat, especially raw cow liver, in adult patients. PMID:24922534

Differences in clinical characteristics and frequency of accompanying migraine features in episodic and chronic cluster headache.

PubMed

Gaul, C; Christmann, N; Schröder, D; Weber, R; Shanib, H; Diener, H C; Holle, D

2012-05-01

Data on clinical differences between episodic (eCH) and chronic cluster headache (cCH) and accompanying migraine features are limited. History and clinical features of 209 consecutive cluster headache patients (144 eCH, 65 cCH; male:female ratio 3.4 : 1) were obtained in a tertiary headache centre by face-to-face interviews. Relationship between occurrence of accompanying symptoms, pain intensity, comorbid migraine, and circannual and circadian rhythmicity was analysed. 99.5% of patients reported a minimum of one ipsilateral cranial autonomic symptom (CAS); 80% showed at least three CAS. A seasonal rhythmicity was observed in both eCH and cCH. A comorbid headache disorder occurred in 25%. No significant difference was detected between patients with comorbid migraine and without regarding occurrence of phonophobia, photophobia or nausea during cluster attacks. Patients with comorbid migraine reported allodynia significantly (p = 0.022) more often during cluster attacks than patients without comorbid migraine. Occurrence of CAS and attack frequency, as well as periodic patterns of attacks, are relatively uniform in eCH and cCH. Multiple CAS are not related to pain intensity. Allodynia during cluster attacks is a frequent symptom. The unexpectedly high rate of accompanying migrainous features during cluster attacks cannot be explained by comorbid migraine.

Clinical features, management and outcomes of progressive outer retinal necrosis (PORN) in southern Thailand.

PubMed

Sittivarakul, Wantanee; Aui-aree, Nipat

2009-03-01

To study the demographics, clinical features, treatment, and visual outcomes of progressive outer retinal necrosis (PORN) in a group of Thai patients. All cases of AIDS with a clinical diagnosis of PORN in a major tertiary referral hospital in southern Thailand between January 2003 and June 2007 were retrospectively reviewed. Demographic data, clinical features, treatment regimens, and visual outcomes were analyzed. Seven patients (11 eyes) were studied. The mean age was 44.7 years. The median CD4 count was 12 cells/mm3. A known history of cutaneous zoster was documented in 57% of cases. The median follow-up period was 17 weeks. Fifty-seven percent of the patients had bilateral disease. A majority of eyes (45.4%) had initial visual acuity of less than 20/50 to equal to or better than 20/200. About two-thirds of the eyes had anterior chamber cells. Vitritis and retinal lesions scattered throughout both posterior pole and peripheral retina were found in 72.7%. Either intravenous acyclovir in combination with intravitreal ganciclovir injections or intravenous aclyclovir alone was used for initial treatment. Retinal detachment occurred in 54.5%. Final visual acuity worsened (loss of 3 lines on the ETDRS chart or more) in 60%. Visual acuity was no light perception in 45.5% at the final recorded follow-up. Demographics, clinical features and treatment outcomes of PORN in this group of Thai patients were comparable with studies from other countries. Visual prognosis is still poor with current treatment regimens.

Clinical and mycological analysis of twenty-one cases of tinea incognita in the Aegean region of Turkey: a retrospective study.

PubMed

Turk, Bengu Gerceker; Taskin, Banu; Karaca, Nezih; Sezgin, Aycan Ozden; Aytimur, Derya

2013-01-01

Tinea incognita is a dermatophyte infection with atypical clinical features modified by the improper use of corticosteroids or calcineurin inhibitors. The aim of this study was to analyze clinical and microbiological features of patients with tinea incognita. A total of 6326 patients referred to mycology laboratory between January 2008 and January 2011 for mycological examination with a diagnosis of tinea incognita were reviewed retrospectively. Twenty-one patients, 13 (61.9%) women and 8 (38.1%) men, mean age 42.2±36.8, were included in the study. Of them, lesions were localized in 15 (71.4%) patients and widespread in six (28.6%) patients. The mean duration of the disease was 9.5 (range 1-120) months. All patients had a history of treatment with steroids. Before admission, most of them had been misdiagnosed as eczema or psoriasis. Microscopic examination revealed hyphae and spores in most of the cases (n=17, 80.95%). Mycological cultures were positive in 19 (90.5%) patients. The most frequently isolated dermatophyte was Trichophyton rubrum (n=14, 66.7%). This case series revealed Trichophyton rubrum as the most frequent agent of tinea incognita. To the best of our knowledge, this is the largest case series from Turkey describing clinical features and mycological agents of tinea incognita.

Mixed features in patients with a major depressive episode: the BRIDGE-II-MIX study.

PubMed

Perugi, Giulio; Angst, Jules; Azorin, Jean-Michel; Bowden, Charles L; Mosolov, Sergey; Reis, Joao; Vieta, Eduard; Young, Allan H

2015-03-01

To estimate the frequency of mixed states in patients diagnosed with major depressive episode (MDE) according to conceptually different definitions and to compare their clinical validity. This multicenter, multinational cross-sectional Bipolar Disorders: Improving Diagnosis, Guidance and Education (BRIDGE)-II-MIX study enrolled 2,811 adult patients experiencing an MDE. Data were collected per protocol on sociodemographic variables, current and past psychiatric symptoms, and clinical variables that are risk factors for bipolar disorder. The frequency of mixed features was determined by applying both DSM-5 criteria and a priori described Research-Based Diagnostic Criteria (RBDC). Clinical variables associated with mixed features were assessed using logistic regression. Overall, 212 patients (7.5%) fulfilled DSM-5 criteria for MDE with mixed features (DSM-5-MXS), and 818 patients (29.1%) fulfilled diagnostic criteria for a predefined RBDC depressive mixed state (RBDC-MXS). The most frequent manic/hypomanic symptoms were irritable mood (32.6%), emotional/mood lability (29.8%), distractibility (24.4%), psychomotor agitation (16.1%), impulsivity (14.5%), aggression (14.2%), racing thoughts (11.8%), and pressure to keep talking (11.4%). Euphoria (4.6%), grandiosity (3.7%), and hypersexuality (2.6%) were less represented. In multivariate logistic regression analysis, RBDC-MXS was associated with the largest number of variables including diagnosis of bipolar disorder, family history of mania, lifetime suicide attempts, duration of the current episode > 1 month, atypical features, early onset, history of antidepressant-induced mania/hypomania, and lifetime comorbidity with anxiety, alcohol and substance use disorders, attention-deficit/hyperactivity disorder, and borderline personality disorder. Depressive mixed state, defined as the presence of 3 or more manic/hypomanic features, was present in around one-third of patients experiencing an MDE. The valid symptom, illness course and family history RBDC criteria we assessed identified 4 times more MDE patients as having mixed features and yielded statistically more robust associations with several illness characteristics of bipolar disorder than did DSM-5 criteria. © Copyright 2015 Physicians Postgraduate Press, Inc.

Deep Patient: An Unsupervised Representation to Predict the Future of Patients from the Electronic Health Records

PubMed Central

Miotto, Riccardo; Li, Li; Kidd, Brian A.; Dudley, Joel T.

2016-01-01

Secondary use of electronic health records (EHRs) promises to advance clinical research and better inform clinical decision making. Challenges in summarizing and representing patient data prevent widespread practice of predictive modeling using EHRs. Here we present a novel unsupervised deep feature learning method to derive a general-purpose patient representation from EHR data that facilitates clinical predictive modeling. In particular, a three-layer stack of denoising autoencoders was used to capture hierarchical regularities and dependencies in the aggregated EHRs of about 700,000 patients from the Mount Sinai data warehouse. The result is a representation we name “deep patient”. We evaluated this representation as broadly predictive of health states by assessing the probability of patients to develop various diseases. We performed evaluation using 76,214 test patients comprising 78 diseases from diverse clinical domains and temporal windows. Our results significantly outperformed those achieved using representations based on raw EHR data and alternative feature learning strategies. Prediction performance for severe diabetes, schizophrenia, and various cancers were among the top performing. These findings indicate that deep learning applied to EHRs can derive patient representations that offer improved clinical predictions, and could provide a machine learning framework for augmenting clinical decision systems. PMID:27185194

Deep Patient: An Unsupervised Representation to Predict the Future of Patients from the Electronic Health Records

NASA Astrophysics Data System (ADS)

Miotto, Riccardo; Li, Li; Kidd, Brian A.; Dudley, Joel T.

2016-05-01

Secondary use of electronic health records (EHRs) promises to advance clinical research and better inform clinical decision making. Challenges in summarizing and representing patient data prevent widespread practice of predictive modeling using EHRs. Here we present a novel unsupervised deep feature learning method to derive a general-purpose patient representation from EHR data that facilitates clinical predictive modeling. In particular, a three-layer stack of denoising autoencoders was used to capture hierarchical regularities and dependencies in the aggregated EHRs of about 700,000 patients from the Mount Sinai data warehouse. The result is a representation we name “deep patient”. We evaluated this representation as broadly predictive of health states by assessing the probability of patients to develop various diseases. We performed evaluation using 76,214 test patients comprising 78 diseases from diverse clinical domains and temporal windows. Our results significantly outperformed those achieved using representations based on raw EHR data and alternative feature learning strategies. Prediction performance for severe diabetes, schizophrenia, and various cancers were among the top performing. These findings indicate that deep learning applied to EHRs can derive patient representations that offer improved clinical predictions, and could provide a machine learning framework for augmenting clinical decision systems.

Scrub typhus: Clinical spectrum and outcome.

PubMed

Venkategowda, Pradeep M; Rao, S Manimala; Mutkule, Dnyaneshwar P; Rao, Mallela V; Taggu, Alai N

2015-04-01

Scrub typhus is one of the differential diagnoses for fever with thrombocytopenia. ARDS associated with Scrub typhus has high morbidity and mortality. To evaluate clinical features, lab values, and outcome in patients with scrub typhus and comparison in patients with or without ARDS. A prospective observational study was conducted on 109 patients with febrile illness and thrombocytopenia during a period of 12 months. All 109 patients were tested with both Immune-chromatography test and Weil felix test. Patients having either Immune-chromatography test/Weil felix test positive have been included and considered as scrub typhus positive whereas negative for both Immune-chromatography and Weil felix test were excluded. Clinical features, lab parameters, and outcome were evaluated in all patients with scrub typhus. Statistical analysis used in this study was T-test. Among 58 patients who were included (After exclusion of 51 patients among total of 109 patients) 34 patients had no ARDS and 24 patients had ARDS. The clinical feature like dyspnoea, cough, low blood pressure (MAP<65 mmHg), IVC collapsibility (by ultrasound) and laboratory parameters like decreased Hemoglobin, Hematocrit, Serum albumin, and increased serum creatinine, serum total bilirubin, SGOT, SGPT, LDH, CPK, and serum lactate were statistically significant (P < 0.0001) in scrub typhus patients group with ARDS. The higher titers of Weil-felix can be correlated with more severe form of disease according to our observation. All 34 Scrub typhus patients without ARDS recovered completely. Among 24 Scrub typhus patients with ARDS, 22 patients recovered, and 2 patients died. Scrub typhus is an important differential diagnosis in a patients having fever with thrombocytopenia. Scrub typhus associated with ARDS has high morbidity and mortality. Early diagnosis and treatment with doxycycline can prevent the occurrence of ARDS.

Detection of EML4-ALK fusion gene and features associated with EGFR mutations in Chinese patients with non-small-cell lung cancer.

PubMed

Wen, Miaomiao; Wang, Xuejiao; Sun, Ying; Xia, Jinghua; Fan, Liangbo; Xing, Hao; Zhang, Zhipei; Li, Xiaofei

2016-01-01

Echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) and epidermal growth factor receptor (EGFR) define specific molecular subsets of lung cancer with distinct clinical features. We aimed at revealing the clinical features of EML4-ALK fusion gene and EGFR mutation in non-small-cell lung cancer (NSCLC). We enrolled 694 Chinese patients with NSCLC for analysis. EML4-ALK fusion gene was analyzed by real-time polymerase chain reaction, and EGFR mutations were analyzed by amplified refractory mutation system. Among the 694 patients, 60 (8.65%) patients had EML4-ALK fusions. In continuity correction χ (2) test analysis, EML4-ALK fusion gene was correlated with sex, age, smoking status, and histology, but no significant association was observed between EML4-ALK fusion gene and clinical stage. A total of 147 (21.18%) patients had EGFR mutations. In concordance with previous reports, EGFR mutation was correlated with age, smoking status, histology, and clinical stage, whereas patient age was not significantly associated with EGFR mutation. Meanwhile, to our surprise, six (0.86%) patients had coexisting EML4-ALK fusions and EGFR mutations. EML4-ALK fusion gene defines a new molecular subset in patients with NSCLC. Six patients who harbored both EML4-ALK fusion genes and EGFR mutations were identified in our study. The EGFR mutations and the EML4-ALK fusion genes are coexistent.

Detection of EML4-ALK fusion gene and features associated with EGFR mutations in Chinese patients with non-small-cell lung cancer

PubMed Central

Wen, Miaomiao; Wang, Xuejiao; Sun, Ying; Xia, Jinghua; Fan, Liangbo; Xing, Hao; Zhang, Zhipei; Li, Xiaofei

2016-01-01

Purpose Echinoderm microtubule-associated protein-like 4–anaplastic lymphoma kinase (EML4-ALK) and epidermal growth factor receptor (EGFR) define specific molecular subsets of lung cancer with distinct clinical features. We aimed at revealing the clinical features of EML4-ALK fusion gene and EGFR mutation in non-small-cell lung cancer (NSCLC). Methods We enrolled 694 Chinese patients with NSCLC for analysis. EML4-ALK fusion gene was analyzed by real-time polymerase chain reaction, and EGFR mutations were analyzed by amplified refractory mutation system. Results Among the 694 patients, 60 (8.65%) patients had EML4-ALK fusions. In continuity correction χ2 test analysis, EML4-ALK fusion gene was correlated with sex, age, smoking status, and histology, but no significant association was observed between EML4-ALK fusion gene and clinical stage. A total of 147 (21.18%) patients had EGFR mutations. In concordance with previous reports, EGFR mutation was correlated with age, smoking status, histology, and clinical stage, whereas patient age was not significantly associated with EGFR mutation. Meanwhile, to our surprise, six (0.86%) patients had coexisting EML4-ALK fusions and EGFR mutations. Conclusion EML4-ALK fusion gene defines a new molecular subset in patients with NSCLC. Six patients who harbored both EML4-ALK fusion genes and EGFR mutations were identified in our study. The EGFR mutations and the EML4-ALK fusion genes are coexistent. PMID:27103824

Premorbid personality in patients with uni- and bipolar affective disorders and controls: assessment by the Biographical Personality Interview (BPI).

PubMed

Hecht, H; van Calker, D; Spraul, G; Bohus, M; Wark, H J; Berger, M; von Zerssen, D

1997-01-01

The relationship between premorbid personality and subtypes of affective disorder was investigated by means of the Biographical Personality Interview (BPI) and by a self-rating scale. Interviewer and rater (BPI) were blind to diagnosis. A total of 52 patients with unipolar depression or bipolar II disorder (D/Dm), 32 bipolar-I patients (DM) and 39 control subjects (C) were examined. Expert rating of "typus melancholicus" features (BPI) were found to be more pronounced in D/Dm than in DM and C. "Typus manicus" features were also distinguished between both clinical groups, whereas anxious-insecure features were not significantly different between the groups of patients. In contrast to the expert-rated personality variants, self-rating of personality features did not reveal any significant differences between the two clinical groups. Potential sources of the discrepancies between the questionnaire data and the interview data are discussed. It is concluded that premorbid features of "typus manicus" and "typus melancholicus" predicted, respectively, a predominant manic and a predominant depressive course of an affective disorder.

Clinical Features and Prognostic Factors of Hodgkin’s Lymphoma: A Single Center Experience

PubMed Central

Kılıçkap, Saadettin; Barışta, İbrahim; Ülger, Şükran; Çelik, İsmail; Selek, Uğur; Yıldız, Ferah; Kars, Ayşe; Özışık, Yavuz; Tekuzman, Gülten

2013-01-01

Background: Hodgkin’s lymphoma (HL) is a B cell lymphoma characterized by the presence of Reed-Sternberg cells. HL comprises 1% of all cancer cases and 14% of all lymphoma cases. Aims: We designed a retrospective study to investigate the clinical features and prognostic factors of HL patients diagnosed at an experienced oncology centre. Study Design: Retrospective study. Methods: Demographic characteristics, histopathological and clinical features, treatment modalities and response to treatment were obtained from hospital records. Dates of initial diagnosis, remission and relapse, last visit and death were recorded for survival analyses. Results: We analysed data of 391 HL patients (61% male, 39% female; mean age 35.7±15.1 years). The most common classical HL histological subtype was nodular sclerosing HL (NSHL) (42.7%). The most common stage was II 50.4%. The most common chemotherapy regimen was doxorubicin, bleomycin, vinblastine and dacarbazine (ABVD) (70.6%). Five and 10-year survival rates were 90% and 84%, respectively. Early-stage patients with good prognostic factors had better overall and relapse-free survival rates. The presence of “B” symptoms, albumin level, Eastern Cooperative Oncology Group (ECOG) performance score, and LDH were prognostic factors that affect the survival in both univariate and multivariate analyses. Conclusion: This is the first study that demonstrates the demographic, clinical and prognostic features of HL patients in Turkey, and provides a general picture of the HL patients in our country. PMID:25207097

Radiologic and clinical features of idiopathic granulomatous lobular mastitis mimicking advanced breast cancer.

PubMed

Lee, Jei Hee; Oh, Ki Keun; Kim, Eun-kyung; Kwack, Kyu Sung; Jung, Woo Hee; Lee, Han Kyung

2006-02-28

Idiopathic granulomatous lobular mastitis (IGLM), also known as idiopathic granulomatous mastitis, is a rare chronic inflammatory lesion of the breast that can clinically and radiographically mimic breast carcinoma. The aim of this study was to describe the radiological imaging and clinical features of IGLM in order to better differentiate this disorder from breast cancer. We performed a retrospective analysis of the clinical and radiographic features of 11 women with a total of 12 IGLM lesions. The ages of these women ranged between 29 and 42 years, with a mean age of 34.8 years. Ten patients were examined by both mammography and sonography and one by sonography alone. The sites that were the most frequently involved were the peripheral (6/12), diffuse, (3/12), and subareolar (3/12) regions of the breast. The patient mammograms showed irregular ill-defined masses (7/11), diffuse increased densities (3/11), and one oval obscured mass. In addition, patient sonograms showed irregular tubular lesions (7/12) or lobulated masses with minimal parenchymal distortion (2/12), parenchymal distortion without definite mass lesions (2/12), and one oval mass. Subcutaneous fat obliteration (12/12) and skin thickening (11/12) were also observed in these patients. Contrary to previous reports, skin changes and subareolar involvement were not rare occurrences in IGLM. In conclusion, the sonographic features of IGLM show irregular or tubular hypoechoic masses with minimal parenchymal distortion. Both clinical information and the description of radiographic features of IGLM may aid in the differentiation between IGLM and breast cancer, however histological confirmation is still required for the proper diagnosis and treatment of the disorder.

Radiologic and Clinical Features of Idiopathic Granulomatous Lobular Mastitis Mimicking Advanced Breast Cancer

PubMed Central

Lee, Jei Hee; Kim, Eun-kyung; Kwack, Kyu Sung; Jung, Woo Hee; Lee, Han Kyung

2006-01-01

Idiopathic granulomatous lobular mastitis (IGLM), also known as idiopathic granulomatous mastitis, is a rare chronic inflammatory lesion of the breast that can clinically and radiographically mimic breast carcinoma. The aim of this study was to describe the radiological imaging and clinical features of IGLM in order to better differentiate this disorder from breast cancer. We performed a retrospective analysis of the clinical and radiographic features of 11 women with a total of 12 IGLM lesions. The ages of these women ranged between 29 and 42 years, with a mean age of 34.8 years. Ten patients were examined by both mammography and sonography and one by sonography alone. The sites that were the most frequently involved were the peripheral (6/12), diffuse, (3/12), and subareolar (3/12) regions of the breast. The patient mammograms showed irregular ill-defined masses (7/11), diffuse increased densities (3/11), and one oval obscured mass. In addition, patient sonograms showed irregular tubular lesions (7/12) or lobulated masses with minimal parenchymal distortion (2/12), parenchymal distortion without definite mass lesions (2/12), and one oval mass. Subcutaneous fat obliteration (12/12) and skin thickening (11/12) were also observed in these patients. Contrary to previous reports, skin changes and subareolar involvement were not rare occurrences in IGLM. In conclusion, the sonographic features of IGLM show irregular or tubular hypoechoic masses with minimal parenchymal distortion. Both clinical information and the description of radiographic features of IGLM may aid in the differentiation between IGLM and breast cancer, however histological confirmation is still required for the proper diagnosis and treatment of the disorder. PMID:16502488

Clinical Correlates of Computationally Derived Visual Field Defect Archetypes in Patients from a Glaucoma Clinic.

PubMed

Cai, Sophie; Elze, Tobias; Bex, Peter J; Wiggs, Janey L; Pasquale, Louis R; Shen, Lucy Q

2017-04-01

To assess the clinical validity of visual field (VF) archetypal analysis, a previously developed machine learning method for decomposing any Humphrey VF (24-2) into a weighted sum of clinically recognizable VF loss patterns. For each of 16 previously identified VF loss patterns ("archetypes," denoted AT1 through AT16), we screened 30,995 reliable VFs to select 10-20 representative patients whose VFs had the highest decomposition coefficients for each archetype. VF global indices and patient ocular and demographic features were extracted retrospectively. Based on resemblances between VF archetypes and clinically observed VF patterns, hypotheses were generated for associations between certain VF archetypes and clinical features, such as an association between AT6 (central island, representing severe VF loss) and large cup-to-disk ratio (CDR). Distributions of the selected clinical features were compared between representative eyes of certain archetypes and all other eyes using the two-tailed t-test or Fisher exact test. 243 eyes from 243 patients were included, representative of AT1 through AT16. CDR was more often ≥ 0.7 among eyes representative of AT6 (central island; p = 0.002), AT10 (inferior arcuate defect; p = 0.048), AT14 (superior paracentral defect; p = 0.016), and AT16 (inferior paracentral defect; p = 0.016) than other eyes. CDR was more often < 0.7 among eyes representative of AT1 (no focal defect; p < 0.001) and AT2 (superior defect; p = 0.027), which was also associated with ptosis (p < 0.001). AT12 (temporal hemianopia) was associated with history of stroke (p = 0.022). AT11 (concentric peripheral defect) trended toward association with trial lens correction > 6D (p = 0.069). Shared clinical features between computationally derived VF archetypes and clinically observed VF patterns support the clinical validity of VF archetypal analysis.

Clinical commentary on "Paroxysmal kinesigenic dyskinesia-like phenotype in multiple sclerosis" and "Secondary paroxysmal dyskinesia in multiple sclerosis: Clinical-radiological features and treatment. Case report of seven patients".

PubMed

Pareés, Isabel

2017-11-01

This clinical commentary discusses the phenomenology and treatment of paroxysmal dyskinesia in patients with multiple sclerosis. It calls for a consensus on the definition as well as for larger studies to better understand this unusual clinical association.

Cataract formation associated with ocular toxocariasis.

PubMed

Ahn, Seong Joon; Woo, Se Joon; Hyon, Joon Young; Park, Kyu Hyung

2013-06-01

To report the clinical features of cataracts in eyes with ocular toxocariasis. Department of Ophthalmology, Seoul National University Bundang Hosptal, Seongnam, South Korea. Retrospective observational case series. The clinical diagnosis of ocular toxocariasis was based on the following characteristic features: retinal granuloma with or without ocular inflammation and positive results in serum antibody enzyme-linked immunosorbent assay. Patients younger than 60 years who presented with a unilateral cataract and were diagnosed with ocular toxocariasis between January 2009 and January 2012 were included. Demographic and ocular examination data for all patients showing atypical cataract features were collected. All cataracts were documented with anterior segment photography. Seven of 83 patients (8.4%) presented with an atypical cataract in the eye with ocular toxocariasis only. The mean patient age was 49.7 years ± 8.3 (SD) (range 38 to 59 years). All patients had small, round, white lens opacities resembling retinal granulomas. The granuloma-like opacities were located primarily in the lens midperiphery and in the subcapsular level. The lens opacity migrated in 1 patient. Ocular toxocariasis can cause a cataract with distinctive clinical features. These cataracts show a granuloma-like opacity primarily in the posterior subcapsular level; the opacity can migrate. No author has a financial or proprietary interest in any material or method mentioned. Copyright © 2013 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

TH-E-BRF-05: Comparison of Survival-Time Prediction Models After Radiotherapy for High-Grade Glioma Patients Based On Clinical and DVH Features

DOE Office of Scientific and Technical Information (OSTI.GOV)

Magome, T; Haga, A; Igaki, H

Purpose: Although many outcome prediction models based on dose-volume information have been proposed, it is well known that the prognosis may be affected also by multiple clinical factors. The purpose of this study is to predict the survival time after radiotherapy for high-grade glioma patients based on features including clinical and dose-volume histogram (DVH) information. Methods: A total of 35 patients with high-grade glioma (oligodendroglioma: 2, anaplastic astrocytoma: 3, glioblastoma: 30) were selected in this study. All patients were treated with prescribed dose of 30–80 Gy after surgical resection or biopsy from 2006 to 2013 at The University of Tokyomore » Hospital. All cases were randomly separated into training dataset (30 cases) and test dataset (5 cases). The survival time after radiotherapy was predicted based on a multiple linear regression analysis and artificial neural network (ANN) by using 204 candidate features. The candidate features included the 12 clinical features (tumor location, extent of surgical resection, treatment duration of radiotherapy, etc.), and the 192 DVH features (maximum dose, minimum dose, D95, V60, etc.). The effective features for the prediction were selected according to a step-wise method by using 30 training cases. The prediction accuracy was evaluated by a coefficient of determination (R{sup 2}) between the predicted and actual survival time for the training and test dataset. Results: In the multiple regression analysis, the value of R{sup 2} between the predicted and actual survival time was 0.460 for the training dataset and 0.375 for the test dataset. On the other hand, in the ANN analysis, the value of R{sup 2} was 0.806 for the training dataset and 0.811 for the test dataset. Conclusion: Although a large number of patients would be needed for more accurate and robust prediction, our preliminary Result showed the potential to predict the outcome in the patients with high-grade glioma. This work was partly supported by the JSPS Core-to-Core Program(No. 23003) and Grant-in-aid from the JSPS Fellows.« less

The clinical spectrum of remitting seronegative symmetrical synovitis with pitting edema. The Catalán Group for the Study of RS3PE.

PubMed

Olivé, A; del Blanco, J; Pons, M; Vaquero, M; Tena, X

1997-02-01

To describe the clinical and laboratory features and outcome of patients with remitting seronegative symmetrical synovitis with pitting edema (RS3PE). A retrospective multicenter study of patients with RS3PE fulfilling the following criteria: (1) bilateral pitting edema of both hands, (2) sudden onset of polyarthritis, (3) age > 50 years, (4) seronegative for rheumatoid factor (RF). 27 patients with RS3PE were included, mean age 71.7 years (58-92), 18 men (66.6%) and 9 women (33.3%). Relevant history was noted in 2 patients with polymyalgia rheumatica. Main clinical features were polyarthritis and edema of both hands. Polyarthritis involved metacarpophalangeal joints in 22 patients (81.5%), proximal interphalangeal joints in 19 (70.4%), wrists in 15 (55.5%), shoulders in 13 (48%), elbows in 3 (11.1%), knees in 9 (33.3%), and ankles in 7 (25.9%). All patients were RF negative. Antinuclear antibodies were positive at low titer in 8 patients. Erosions were present in one patient. Two patients developed T lymphoma and one myelodysplastic syndrome. RS3PE is a heterogeneous syndrome the clinical history, presence of erosions, and evolution to hematological diseases in our patients suggest that RS3PE may not be a distinct clinical entity.

Response monitoring of breast cancer patients receiving neoadjuvant chemotherapy using quantitative ultrasound, texture, and molecular features

PubMed Central

Gangeh, Mehrdad; Tadayyon, Hadi; Sadeghi-Naini, Ali; Gandhi, Sonal; Wright, Frances C.; Slodkowska, Elzbieta; Curpen, Belinda; Tran, William; Czarnota, Gregory J.

2018-01-01

Background Pathological response of breast cancer to chemotherapy is a prognostic indicator for long-term disease free and overall survival. Responses of locally advanced breast cancer in the neoadjuvant chemotherapy (NAC) settings are often variable, and the prediction of response is imperfect. The purpose of this study was to detect primary tumor responses early after the start of neoadjuvant chemotherapy using quantitative ultrasound (QUS), textural analysis and molecular features in patients with locally advanced breast cancer. Methods The study included ninety six patients treated with neoadjuvant chemotherapy. Breast tumors were scanned with a clinical ultrasound system prior to chemotherapy treatment, during the first, fourth and eighth week of treatment, and prior to surgery. Quantitative ultrasound parameters and scatterer-based features were calculated from ultrasound radio frequency (RF) data within tumor regions of interest. Additionally, texture features were extracted from QUS parametric maps. Prior to therapy, all patients underwent a core needle biopsy and histological subtypes and biomarker ER, PR, and HER2 status were determined. Patients were classified into three treatment response groups based on combination of clinical and pathological analyses: complete responders (CR), partial responders (PR), and non-responders (NR). Response classifications from QUS parameters, receptors status and pathological were compared. Discriminant analysis was performed on extracted parameters using a support vector machine classifier to categorize subjects into CR, PR, and NR groups at all scan times. Results Of the 96 patients, the number of CR, PR and NR patients were 21, 52, and 23, respectively. The best prediction of treatment response was achieved with the combination mean QUS values, texture and molecular features with accuracies of 78%, 86% and 83% at weeks 1, 4, and 8, after treatment respectively. Mean QUS parameters or clinical receptors status alone predicted the three response groups with accuracies less than 60% at all scan time points. Recurrence free survival (RFS) of response groups determined based on combined features followed similar trend as determined based on clinical and pathology. Conclusions This work demonstrates the potential of using QUS, texture and molecular features for predicting the response of primary breast tumors to chemotherapy early, and guiding the treatment planning of refractory patients. PMID:29298305

Clinical value of the neutrophil/lymphocyte ratio in diagnosing adult strangulated inguinal hernia.

PubMed

Zhou, Huanhao; Ruan, Xiaojiao; Shao, Xia; Huang, Xiaming; Fang, Guan; Zheng, Xiaofeng

2016-12-01

Diagnosis of incarcerated inguinal hernia (IIH) is not difficult, but currently, there are no diagnostic criteria that can be used to differentiate it from strangulated inguinal hernia (SIH). This research aimed to evaluate the clinical value of the neutrophil/lymphocyte ratio (NLR) in diagnosing SIH. We retrospectively analyzed 263 patients with IIH who had undergone emergency operation. The patients were divided into two groups according to IIH severity: group A, patients with pure IIH validated during operation as having no bowel ischemia; group B, patients with SIH validated during operation as having obvious bowel ischemia, including bowel necrosis. We statistically evaluated the relation between several clinical features and SIH. The accuracy of different indices was then evaluated and compared using receiver operating characteristic (ROC) curve analyses, and the corresponding cutoff values were calculated. Univariate analysis showed eight clinical features that were significantly different between the two groups. They were then subjected to multivariate analysis, which showed that the NLR, type of hernia, and incarcerated organ were significantly related to SIH. ROC curve analysis showed that the NLR had the largest area under the ROC curve. Among the different clinical features, the NLR appears to be the best index in diagnosing SIH. Copyright © 2016 IJS Publishing Group Ltd. Published by Elsevier Ltd. All rights reserved.

Lesion classification using clinical and visual data fusion by multiple kernel learning

NASA Astrophysics Data System (ADS)

Kisilev, Pavel; Hashoul, Sharbell; Walach, Eugene; Tzadok, Asaf

2014-03-01

To overcome operator dependency and to increase diagnosis accuracy in breast ultrasound (US), a lot of effort has been devoted to developing computer-aided diagnosis (CAD) systems for breast cancer detection and classification. Unfortunately, the efficacy of such CAD systems is limited since they rely on correct automatic lesions detection and localization, and on robustness of features computed based on the detected areas. In this paper we propose a new approach to boost the performance of a Machine Learning based CAD system, by combining visual and clinical data from patient files. We compute a set of visual features from breast ultrasound images, and construct the textual descriptor of patients by extracting relevant keywords from patients' clinical data files. We then use the Multiple Kernel Learning (MKL) framework to train SVM based classifier to discriminate between benign and malignant cases. We investigate different types of data fusion methods, namely, early, late, and intermediate (MKL-based) fusion. Our database consists of 408 patient cases, each containing US images, textual description of complaints and symptoms filled by physicians, and confirmed diagnoses. We show experimentally that the proposed MKL-based approach is superior to other classification methods. Even though the clinical data is very sparse and noisy, its MKL-based fusion with visual features yields significant improvement of the classification accuracy, as compared to the image features only based classifier.

The Clinical Features of Myositis-Associated Autoantibodies: a Review.

PubMed

Gunawardena, Harsha

2017-02-01

The idiopathic inflammatory myopathies (IIM) are a group of autoimmune diseases traditionally defined by clinical manifestations including skeletal muscle weakness, skin rashes, elevated skeletal muscle enzymes, and neurophysiological and/or histological evidence of muscle inflammation. Patients with myositis overlap can develop other features including parenchymal lung disease, inflammatory arthritis, gastrointestinal manifestations and marked constitutional symptoms. Although patients may be diagnosed as having polymyositis (PM) or dermatomyositis (DM) under the IIM spectrum, it is quite clear that disease course between subgroups of patients is different. For example, interstitial lung disease may predominate in some, whereas cutaneous complications, cancer risk, or severe refractory myopathy may be a significant feature in others. Therefore, tools that facilitate diagnosis and indicate which patients require more detailed investigation for disease complications are invaluable in clinical practice. The expanding field of autoantibodies (autoAbs) associated with connective tissue disease (CTD)-myositis overlap has generated considerable interest over the last few years. Using an immunological diagnostic approach, this group of heterogeneous conditions can be separated into a number of distinct clinical phenotypes. Rather than diagnose a patient as simply having PM, DM or overlap CTD, we can define syndromes to differentiate disease subsets that emphasise clinical outcomes and guide management. There are now over 15 CTD-myositis overlap autoAbs found in patients with a range of clinical manifestations including interstitial pneumonia, cutaneous disease, cancer-associated myositis and autoimmune-mediated necrotising myopathy. This review describes their diagnostic utility, potential role in disease monitoring and response to treatment. In the future, routine use of these autoAb will allow a stratified approach to managing this complex set of conditions.

Incidence, clinical features, laboratory findings and outcome of patients with multiple myeloma presenting with extramedullary relapse.

PubMed

Papanikolaou, Xenofon; Repousis, Panagiotis; Tzenou, Tatiana; Maltezas, Dimitris; Kotsopoulou, Maria; Megalakaki, Katerina; Angelopoulou, Maria; Dimitrakoloulou, Elektra; Koulieris, Efstathios; Bartzis, Vassiliki; Pangalis, Gerasimos; Panayotidis, Panagiotis; Kyrtsonis, Marie-Christine

2013-07-01

Extramedullary plasmacytomas constitute a rare and not well studied subset of multiple myeloma (MM) relapses. We report the incidence, clinical-laboratory features and outcome of patients with MM and extramedullary relapse (ExMeR). A total of 303 patients with symptomatic MM were recorded in a 13-year period in two institutions. Twenty-eight cases of ExMeR (9%) were recorded. There was an increased frequency of elevated lactate dehydrogenase (LDH) (p = 0.026), bone plasmacytomas (p = 0.001) and fractures (p = 0.002) at diagnosis, in patients with ExMeR compared to the others. ExMeR was associated with an ominous outcome, high LDH, constitutional symptoms and a statistically significant decrease of monoclonal paraprotein compared to levels at diagnosis (p = 0.009). Prior treatment with bortezomib was associated with a decreased hazard of ExMeR (p = 0.041). Overall survival (OS) was decreased in patients with ExMeR compared to the others (38 vs. 59 months, p = 0.006). Patients with MM with ExMeR have a lower OS and their clinical and laboratory features differ from those without.

The acute monocytic leukemias: multidisciplinary studies in 45 patients.

PubMed

Straus, D J; Mertelsmann, R; Koziner, B; McKenzie, S; de Harven, E; Arlin, Z A; Kempin, S; Broxmeyer, H; Moore, M A; Menendez-Botet, C J; Gee, T S; Clarkson, B D

1980-11-01

The clinical and laboratory features of 37 patients with variants of acute monocytic leukemia are described. Three of these 37 patients who had extensive extramedullary leukemic tissue infiltration are examples of true histiocytic "lymphomas." Three additional patients with undifferentiated leukemias, one patient with refractory anemia with excess of blasts, one patient with chronic myelomonocytic leukemia, one patient with B-lymphocyte diffuse "histiocytic" lymphoma and one patient with "null" cell, terminal deoxynucleotidyl transferase-positive lymphoblastic lymphoma had bone marrow cells with monocytic features. Another patient had dual populations of lymphoid and monocytoid leukemic cells. The true monocytic leukemias, acute monocytic leukemia (AMOL) and acute myelomonocytic leukemia (AMMOL), are closely related to acute myelocytic leukemia (AML) morphologically and by their response to chemotherapy. like AML, the leukemic cells from the AMMOL and AMOL patients form leukemic clusters in semisolid media. Cytochemical staining of leukemic cells for nonspecific esterases, presence of Fc receptor on the cell surface, phagocytic ability, low TdT activity, presence of surface "ruffles" and "ridges" on scanning EM, elevations of serum lysozyme, and clinical manifestations of leukemic tissue infiltration are features which accompanied monocytic differentiation in these cases.

Incorporating clinical metadata with digital image features for automated identification of cutaneous melanoma.

PubMed

Liu, Z; Sun, J; Smith, M; Smith, L; Warr, R

2013-11-01

Computer-assisted diagnosis (CAD) of malignant melanoma (MM) has been advocated to help clinicians to achieve a more objective and reliable assessment. However, conventional CAD systems examine only the features extracted from digital photographs of lesions. Failure to incorporate patients' personal information constrains the applicability in clinical settings. To develop a new CAD system to improve the performance of automatic diagnosis of melanoma, which, for the first time, incorporates digital features of lesions with important patient metadata into a learning process. Thirty-two features were extracted from digital photographs to characterize skin lesions. Patients' personal information, such as age, gender and, lesion site, and their combinations, was quantified as metadata. The integration of digital features and metadata was realized through an extended Laplacian eigenmap, a dimensionality-reduction method grouping lesions with similar digital features and metadata into the same classes. The diagnosis reached 82.1% sensitivity and 86.1% specificity when only multidimensional digital features were used, but improved to 95.2% sensitivity and 91.0% specificity after metadata were incorporated appropriately. The proposed system achieves a level of sensitivity comparable with experienced dermatologists aided by conventional dermoscopes. This demonstrates the potential of our method for assisting clinicians in diagnosing melanoma, and the benefit it could provide to patients and hospitals by greatly reducing unnecessary excisions of benign naevi. This paper proposes an enhanced CAD system incorporating clinical metadata into the learning process for automatic classification of melanoma. Results demonstrate that the additional metadata and the mechanism to incorporate them are useful for improving CAD of melanoma. © 2013 British Association of Dermatologists.

[Clinical feature of chronic compressive optic neuropathy without optic atrophy].

PubMed

Jiang, Libin; Shi, Jitong; Liu, Wendong; Kang, Jun; Wang, Ningli

2014-12-01

To investigate the clinical feature of the chronic compressive optic neuropathy without optic atrophy. Retrospective cases series study. The clinical data of 25 patients (37 eyes) with chronic compressive optic neuropathy without optic atrophy, treated in Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, from October, 2005 to March, 2014, were collected. Those patients had been showing visual symptoms for 6 months or longer, but missed diagnosed or misdiagnosed as other eye diseases due to their normal or slightly changed fundi. The collected data including visual acuities, visual fields, neuroimaging and/or pathologic diagnosis were analyzed. Among the 25 patients, there were 5 males and 20 females, and their ages range from 9 to 74 years [average (47.5 ± 13.4) years]. All patients suffered progressive impaired vision in single eye or both eyes, without exophthalmos or abnormal eye movements. Except one patient had a headache, other patients did not show systemic symptoms. The corrected visual acuities were between HM to 1.0, and their appearances of optic discs and colors of fundi were normal. After neuroimaging and/or pathological examination, it was proven that 14 patients suffered tuberculum sellae meningiomas, 5 patients with hypophysoma, 3 patient with optic nerve sheath meningioma in orbital apex, 1 patient with cavernous hemangioma, 1 patient with vascular malformation in orbital apex and 1 patient with optic nerve glioma. Among the 19 patients whose suffered occupied lesions of saddle area, 14 patients underwent visual field examinations, and only 4 patients showed classic visual field defects caused by optic chiasmal lesions. Occult progressive visual loss was the most important clinical feature of the disease.

Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome.

PubMed

Maya, Idit; Vinkler, Chana; Konen, Osnat; Kornreich, Liora; Steinberg, Tamar; Yeshaya, Josepha; Latarowski, Victoria; Shohat, Mordechai; Lev, Dorit; Baris, Hagit N

2014-08-01

Smith-Magenis syndrome (SMS) is a clinically recognizable contiguous gene syndrome ascribed to an interstitial deletion in chromosome 17p11.2. Seventy percent of SMS patients have a common deletion interval spanning 3.5 megabases (Mb). Clinical features of SMS include characteristic mild dysmorphic features, ocular anomalies, short stature, brachydactyly, and hypotonia. SMS patients have a unique neurobehavioral phenotype that includes intellectual disability, self-injurious behavior and severe sleep disturbance. Little has been reported in the medical literature about anatomical brain anomalies in patients with SMS. Here we describe two patients with SMS caused by the common deletion in 17p11.2 diagnosed using chromosomal microarray (CMA). Both patients had a typical clinical presentation and abnormal brain magnetic resonance imaging (MRI) findings. One patient had subependymal periventricular gray matter heterotopia, and the second had a thin corpus callosum, a thin brain stem and hypoplasia of the cerebellar vermis. This report discusses the possible abnormal MRI images in SMS and reviews the literature on brain malformations in SMS. Finally, although structural brain malformations in SMS patients are not a common feature, we suggest baseline routine brain imaging in patients with SMS in particular, and in patients with chromosomal microdeletion/microduplication syndromes in general. Structural brain malformations in these patients may affect the decision-making process regarding their management. © 2014 Wiley Periodicals, Inc.

[The comparison of clinical features and laboratory indexes between flat descending hearing loss and total hearing loss].

PubMed

Wang, R L; Zhang, D M

2017-12-20

Objective: To discuss similarities and differences in clinical features and laboratory indexes between patients with flat descending type sudden hearing loss and those with total hearing loss. Method: The clinical data of 123 patients with full frequencies hearing loss were retrospectively analyzed. The differences in clinical features and laboratory tests(platelet, coagulation series, D-dimer, blood lipids, hemorheology) between patients with flat descending hearing loss and those with total hearing loss were analyzed by gender, age and ear side, treatment time, concomitant symptom (tinnitus, dizziness), original underlying diseases (hypertension, diabetes), etc. Result: In the clinical features,among 51 flat descending cases, the ratio of male and female was 2.401:1; among 72 total hearing loss cases, the ratio of men and women ratio was 1.058:1 ( P <0.05). Among two groups of patients,the majority received treatment within 7 days, among whom 66.7% were flat descending population, and 83.3% were total hearing loss population ( P <0.05). Flat descending population with dizziness only accounted for 35.3% while this figure was up to 70.8% when it came to total hearing loss patients ( P <0.01). Two groups showed no differences in age, ear side, tinnitus, the original underlying diseases (hypertension, diabetes). In the laboratory tests, the total hearing loss population overtopped the plat descending population in PLT and PCT ( P <0.05), while falling below the plat descending population in APTT ( P <0.01). Two groups showed no differences in other indicators of platelet and coagulation series and laboratory data of D-dimer, blood lipids, hemorheology. Conclusion: Compared with flat descending sudden hearing loss, sudden total hearing loss more frequently happened to females who also were accompanied by dizziness. The treatment rate within 7 days was high and the patients with hypercoagulable state accounted for a higher proportion. Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.

Clinical associations of anti-Smith antibodies in PROFILE: a multi-ethnic lupus cohort.

PubMed

Arroyo-Ávila, Mariangelí; Santiago-Casas, Yesenia; McGwin, Gerald; Cantor, Ryan S; Petri, Michelle; Ramsey-Goldman, Rosalind; Reveille, John D; Kimberly, Robert P; Alarcón, Graciela S; Vilá, Luis M; Brown, Elizabeth E

2015-07-01

The aim of this study was to determine the association of anti-Sm antibodies with clinical manifestations, comorbidities, and disease damage in a large multi-ethnic SLE cohort. SLE patients (per American College of Rheumatology criteria), age ≥16 years, disease duration ≤10 years at enrollment, and defined ethnicity (African American, Hispanic or Caucasian), from a longitudinal US cohort were studied. Socioeconomic-demographic features, cumulative clinical manifestations, comorbidities, and disease damage (as per the Systemic Lupus International Collaborating Clinics Damage Index [SDI]) were determined. The association of anti-Sm antibodies with clinical features was examined using multivariable logistic regression analyses adjusting for age, gender, ethnicity, disease duration, level of education, health insurance, and smoking. A total of 2322 SLE patients were studied. The mean (standard deviation, SD) age at diagnosis was 34.4 (12.8) years and the mean (SD) disease duration was 9.0 (7.9) years; 2127 (91.6%) were women. Anti-Sm antibodies were present in 579 (24.9%) patients. In the multivariable analysis, anti-Sm antibodies were significantly associated with serositis, renal involvement, psychosis, vasculitis, Raynaud's phenomenon, hemolytic anemia, leukopenia, lymphopenia, and arterial hypertension. No significant association was found for damage accrual. In this cohort of SLE patients, anti-Sm antibodies were associated with several clinical features including serious manifestations such as renal, neurologic, and hematologic disorders as well as vasculitis.

Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A)

PubMed Central

Çelmeli, Gamze; Türkkahraman, Doğa; Çürek, Yusuf; Houghton, Jayne; Akçurin, Sema; Bircan, İffet

2017-01-01

Wolfram syndrome (WS) is an autosomal recessive disorder caused by mutations in WFS1 gene. The clinical features include diabetes insipidus, diabetes mellitus (DM), optic atrophy, deafness, and other variable clinical manifestations. In this paper, we present the clinical and genetic characteristics of 3 WS patients from 3 unrelated Turkish families. Clinical characteristics of the patients and the age of onset of symptoms were quite different in each pedigree. The first two cases developed all symptoms of the disease in their first decade of life. The heterozygous father of case 2 was symptomatic with bilateral deafness. The first ocular finding of one patient (patient 3) was bilateral cataract which was accompanying DM as a first feature of the syndrome. In this patient’s family, there were two members with features suggestive of WS. Previously known homozygous mutations, c.460+1G>A in intron 4 and c.1885C>T in exon 8, were identified in these cases. A novel homozygous c.2534T>A mutation was also detected in the exon 8 of WFS1 gene. Because of the rarity and heterogeneity of WS, detection of specific and nonspecific clinical signs including ocular findings and family history in non-autoimmune, insulinopenic diabetes cases should lead to a tentative diagnosis of WS. Genetic testing is required to confirm the diagnosis. PMID:27468121

[The clinicopathological features of acute fibrinous and organizing pneumonia].

PubMed

Qiu, Yu-ying; Miao, Li-yun; Cai, Hou-rong; Xiao, Yong-long; Ye, Qing; Meng, Fan-qing; Feng, An-ning

2013-06-01

To improve understanding of the clinical, radiological and pathological characteristics of acute fibrinous and organizing pneumonia (AFOP). The clinical data of 5 AFOP patients were retrospectively analyzed. AFOP was diagnosed via percutaneous lung biopsy guided by chest computerized tomography (CT) in the Affiliated Drum Tower Hospital of Nanjing University Medical School during March 2011 to June 2012. The clinical, radiological and pathological characteristics of those patients were summarized. Among the 5 patients, 2 were male and 3 were female, aging 43-61 years. They were all subacute onset. The main clinical manifestations were dyspnea, productive cough, fever and chest pain with hypoxemia via blood gas analysis. Bilateral infiltrates with diffuse and pathy distribution were the predominant features in chest HRCT. The pathological examination revealed slightly widened alveolar septa, 1ymphocyte and plasma cell infiltration and the presence of intra-alveolar fibrin in the form of fibrin "balls" (organization) within the alveolar spaces. No neutrophil, and eosinophil infiltration and hyaline membrane formation were detected, which was different from other well-recognized histologic patterns of acute lung injury, such as diffuse alveolar damage, cryptogenic organizing pneumonia and eosinophilic pneumonia. All patients were treated by corticosteroids and showed significant clinical and radiological improvement. AFOP has nospecific features, and its diagnosis depends on pathological examination. Treatment with corticosteroids is optimal. However, whether it is a unique interstitial disease needs to be further clinically investigated.

Significance of tuber size for complications of tuberous sclerosis complex.

PubMed

Pascual-Castroviejo, I; Hernández-Moneo, J L; Pascual-Pascual, S I; Viaño, J; Gutiérrez-Molina, M; Velazquez-Fragua, R; Quiñones Tapia, D; Morales Bastos, C

2013-01-01

Tuberous sclerosis complex (TSC) is one of the most frequent neurocutaneous disorders. Cortical tubers are the most common pathological changes in TSC and they are directly related to the disease's main clinical manifestations: seizures, mental retardation, and autistic behaviour. The aim of this study is to establish a correlation between tuber size and the severity of clinical features in TSC. We performed a retrospective study of the clinical and imaging findings from 45 TSC patients (22 females and 23 males) and compared the clinical features with the location, size, and number of the cortical tubers in each patient. Four patients had voluminous tubers located in 1 or both cerebral hemispheres. All of these patients had intractable seizures and severe mental retardation; 3 of these cases also presented with autistic behaviour, despite tubers having been resected in all 4 patients. Thirteen patients had tubers of large-to-average size, and all patients in this group showed intractable seizures and mental retardation. Nine patients who had experienced infantile spasms during the first year of life presented autistic behaviour. Multiple tubers of small to average size were found in 28 patients. In general, this group had seizures that responded well to antiepileptic drugs and a low prevalence of autism. In 3 patients who all presented good seizure control and normal intelligence, single cortical/subcortical tubers were located in the frontal or occipital lobes. Of the total of 45 patients, 13 had cerebellar as well as cerebral tubers; these were generally present in cases with more severe clinical features. Although large tubers are less common than small to medium-sized ones, they are much more likely to be accompanied by severe clinical symptoms (seizures, mental retardation and autistic behaviour), even when the smaller tubers are quite numerous. Copyright © 2012 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

Epidemiological and clinical features of leptospirosis in a highly endemic area over three time periods.

PubMed

Mišić-Majerus, Ljiljana; Habuš, Josipa; Štritof, Zrinka; Bujić, Nevenka; Mađarić, Vesna; Kolaric-Sviben, Gordana; Vince, Silvijo; Peršić, Zdenka; Turk, Nenad

2017-11-01

To present the features of human leptospirosis over three time periods (1970-1975; 2000-2005; 2010-2015), to compare the collected data and to determine whether the incidence, seasonal and spatial distribution, prevalence of presumptive infective serogroups and clinical features have changed over the last 50 years. Epidemiological and clinical data obtained from patients hospitalised and treated in a well-known endemic focus of leptospirosis, Koprivnica-Križevci County in Croatia, were analysed. We observed a steady decline in the overall incidence of leptospirosis and a change in the patient age distribution, with the age ratio changing in favour of middle-aged and older patients. Although leptospirosis was most frequently diagnosed in August in all time periods, the number of cases increased in autumn. The most prevalent serogroup during the first and the second time period was Icterohaemorrhagiae, while in the third time period, the serogroup Australis prevailed. We also noted an increase in the number of severe clinical manifestations. This retrospective research demonstrates a continuous decline in the incidence of human leptospirosis in Croatia. The pattern of disease has changed from predominantly mild clinical forms observed in children to more severe clinical forms observed in middle-aged to older patients, especially those working in agriculture. Additional epidemiological changes included an increase in the number of cases during the autumn months and changes in prevailing serogroups. Statistical analysis revealed a significant relationship between the severity of the clinical picture, patient age and presumed sources of infection. © 2017 John Wiley & Sons Ltd.

Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort

PubMed Central

Catteruccia, Michela; Fattori, Fabiana; Codemo, Valentina; Ruggiero, Lucia; Maggi, Lorenzo; Tasca, Giorgio; Fiorillo, Chiara; Pane, Marika; Berardinelli, Angela; Verardo, Margherita; Bragato, Cinzia; Mora, Marina; Morandi, Lucia; Bruno, Claudio; Santoro, Lucio; Pegoraro, Elena; Mercuri, Eugenio; Bertini, Enrico; D’Amico, Adele

2013-01-01

Mutations in dynamin 2 (DNM2) gene cause autosomal dominant centronuclear myopathy and occur in around 50% of patients with centronuclear myopathy. We report clinical, morphological, muscle imaging and genetic data of 10 unrelated Italian patients with centronuclear myopathy related to DNM2 mutations. Our results confirm the clinical heterogeneity of this disease, underlining some peculiar clinical features, such as severe pulmonary impairment and jaw contracture that should be considered in the clinical follow-up of these patients. Muscle MRI showed a distinct pattern of involvement, with predominant involvement of soleus and tibialis anterior in the lower leg muscles, followed by hamstring muscles and adductor magnus at thigh level and gluteus maximus. The detection of three novel DNM2 mutations and the first case of somatic mosaicism further expand the genetic spectrum of the disease. PMID:23394783

OPTIC NERVE INFILTRATION BY RETINOBLASTOMA: Predictive Clinical Features and Outcome.

PubMed

Kaliki, Swathi; Tahiliani, Prerana; Mishra, Dilip K; Srinivasan, Visweswaran; Ali, Mohammed Hasnat; Reddy, Vijay Anand P

2016-06-01

To identify the clinical features predictive of any optic nerve infiltration and postlaminar optic nerve infiltration by retinoblastoma on histopathology and to report the outcome (metastasis and death) in these patients. Retrospective study. Of the 403 patients who underwent primary enucleation for retinoblastoma, 196 patients had optic nerve tumor infiltration (Group 1) and 207 patients had no evidence of optic nerve tumor infiltration (Group 2). Group 1 included patients with prelaminar (n = 47; 24%), laminar (n = 74; 38%), and postlaminar tumor infiltration with or without involving optic nerve transection (n = 74; 38%). Comparing Group 1 and Group 2, the patients in Group 1 had prolonged duration of symptoms (>6 months) (16% vs. 8%; P = 0.02) and were associated with no vision at presentation (23% vs. 10%; P = 0.01), higher rates of secondary glaucoma (42% vs. 12%; P < 0.0001), iris neovascularization (39% vs. 23%; P < 0.001), and larger tumors (mean tumor thickness, 12.8 mm vs. 12 mm; P = 0.0001). There was a higher prevalence of metastasis in Group 1 than in Group 2 (4% vs. 0%; P = 0.006). On multivariate analysis, clinical features predictive of any optic nerve tumor infiltration secondary glaucoma (hazard ratio = 5.38; P < 0.001) and those predictive of postlaminar optic nerve tumor infiltration included iris neovascularization (hazard ratio = 2.66; P = 0.001) and secondary glaucoma (hazard ratio = 3.13; P < 0.001). In this study, clinical features predictive of any optic nerve tumor infiltration included secondary glaucoma and those predictive of postlaminar optic nerve tumor infiltration included iris neovascularization and secondary glaucoma. Despite adjuvant treatment in those with postlaminar optic nerve tumor infiltration, metastasis occurred in 8% of patients.

[Discriminant analysis to predict the clinical diagnosis of primary immunodeficiencies: a preliminary report].

PubMed

Murata, Chiharu; Ramírez, Ana Belén; Ramírez, Guadalupe; Cruz, Alonso; Morales, José Luis; Lugo-Reyes, Saul Oswaldo

2015-01-01

The features in a clinical history from a patient with suspected primary immunodeficiency (PID) direct the differential diagnosis through pattern recognition. PIDs are a heterogeneous group of more than 250 congenital diseases with increased susceptibility to infection, inflammation, autoimmunity, allergy and malignancy. Linear discriminant analysis (LDA) is a multivariate supervised classification method to sort objects of study into groups by finding linear combinations of a number of variables. To identify the features that best explain membership of pediatric PID patients to a group of defect or disease. An analytic cross-sectional study was done with a pre-existing database with clinical and laboratory records from 168 patients with PID, followed at the National Institute of Pediatrics during 1991-2012, it was used to build linear discriminant models that would explain membership of each patient to the different group defects and to the most prevalent PIDs in our registry. After a preliminary run only 30 features were included (4 demographic, 10 clinical, 10 laboratory, 6 germs), with which the training models were developed through a stepwise regression algorithm. We compared the automatic feature selection with a selection made by a human expert, and then assessed the diagnostic usefulness of the resulting models (sensitivity, specificity, prediction accuracy and kappa coefficient), with 95% confidence intervals. The models incorporated 6 to 14 features to explain membership of PID patients to the five most abundant defect groups (combined, antibody, well-defined, dysregulation and phagocytosis), and to the four most prevalent PID diseases (X-linked agammaglobulinemia, chronic granulomatous disease, common variable immunodeficiency and ataxiatelangiectasia). In practically all cases of feature selection the machine outperformed the human expert. Diagnosis prediction using the equations created had a global accuracy of 83 to 94%, with sensitivity of 60 to 100%, specificity of 83 to 95% and kappa coefficient of 0.37 to 0.76. In general, the selection of features has clinical plausibility, and the practical advantage of utilizing only clinical attributes, infecting germs and routine lab results (blood cell counts and serum immunoglobulins). The performance of the model as a diagnostic tool was acceptable. The study's main limitations are a limited sample size and a lack of cross validation. This is only the first step in the construction of a machine learning system, with a wider approach that includes a larger database and different methodologies, to assist the clinical diagnosis of primary immunodeficiencies.

Clinical Manifestation of Parkinson's Disease in Association with Rapid Eye Movement Sleep Behavior Disorder Onset.

PubMed

Zhang, Hui; Gu, Zhuqin; Sun, Liang; Cao, Ming; Li, Dawei; Ma, Jinghong; Chan, Piu

2016-01-01

To confirm whether the presence and/or timing of rapid eye movement sleep behavior disorder (RBD) onset were associated with differences in clinical features of Parkinson's disease (PD), clinical characteristics of PD patients with RBD occurring before and after PD diagnosis were investigated. Consecutive PD patients were enrolled between July 2011 and February 2012. RBD questionnaire Hong Kong and clinical interviews were used to identify RBD symptoms and onsets. All patients underwent evaluations to collect clinical and treatment information. Of all 79 PD patients, 21 (26.6%) and 22 (27.8%) patients had RBD prior to (RBD-PD) and after PD diagnosis (PD-RBD), respectively. Thirty-six (45.6%) PD patients reported no RBD at the time of study (PD-NRBD). PD-RBD had similar clinical features as PD-NRBD did except that Epworth sleepiness scale score was significantly higher in PD-RBD (p = 0.04). Compared to PD-RBD and PD-NRBD, RBD-PD had a higher frequency of reporting excessive daytime sleepiness (p = 0.019, p = 0.008, respectively) and constipation (p = 0.046, p = 0.032, respectively). Our preliminary results suggest that RBD-PD might be clinically different from PD-RBD, which appears to share similar characteristics with PD-NRBD, regarding only non-motor functions. © 2016 S. Karger AG, Basel.

Primary mediastinal large B-cell lymphoma: Clinical features, prognostic factors and survival with RCHOP in Arab patients in the PET scan era

PubMed Central

Al Shemmari, Salem; Sankaranarayanan, Sreedharan P.; Krishnan, Yamini

2014-01-01

Objective: PMBCL is a distinct type of nonhodgkins lymphoma with specific clinicopathological features. To clarify clinical features, treatment alternatives and outcomes, we evaluated 28 Arab patients treated with chemotherapy or radiotherapy between 2006 and 2011. Patients and Methods: PMBCL lymphoma patients identified according to WHO classification and treated at KCCC between 2006 and 2011 were included in this study. Demographic and clinical data are presented as means or medians. Overall survival was estimated using the Kaplan-Meier method. Survival rates were compared using the log-rank test. A P < 0.05 was considered significant. Results: The median age of the patients was 31 years and the male to female ratio was 2:1. Majority of the patients (75%) presented with stage I/II disease. Most had features of local extension like pleural effusion (18%) and SVCO (39%). Only 11% of the patients had bone marrow involvement at presentation. 96% of the patients required biopsy from the mediastinal mass either by image guided core biopsy (75%) or by surgical biopsy. Most patients were treated by RCHOP and involved field radiotherapy. Patients with positive PET scan after RCHOP chemotherapy received salvage chemotherapy and BEAM autologous marrow transplant. The five year OS for the entire group was 85% while the PFS was 73%. Patients who had PET scan for response evaluation had better OS [P = 0.013] and PFS [P = 0.039] when compared with those patients who received only radiotherapy based on CT scan evaluation. Conclusion: PMBCL is a specific lymphoma entity seen in the young with good survival. The role of PET scan for response evaluation and the type of consolidation therapy needs to be further clarified PMID:25125808

Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability.

PubMed

Kim, Hyo Jeong; Park, Chang Il; Lim, Jae Woo; Lee, Gyung Min; Cho, Eunhae; Kim, Hyon J

2018-05-01

The present study aimed to investigate chromosomal microarray (CMA) and clinical data in patients with unexplained developmental delay/intellectual disability (DD/ID) accompanying dysmorphism, congenital anomalies, or epilepsy. We also aimed to evaluate phenotypic clues in patients with pathogenic copy number variants (CNVs). We collected clinical and CMA data from patients at Konyang University Hospital between September 2013 and October 2014. We included patients who had taken the CMA test to evaluate the etiology of unexplained DD/ID. All of the 50 patients identified had DD/ID. Thirty-nine patients had dysmorphism, 19 patients suffered from epilepsy, and 12 patients had congenital anomalies. Twenty-nine of the 50 patients (58%) showed abnormal results. Eighteen (36%) were considered to have pathogenic CNVs. Dysmorphism (p=0.028) was significantly higher in patients with pathogenic CNVs than in those with normal CMA. Two or more clinical features were presented by 61.9% (13/21) of the patients with normal CMA and by 83.3% (15/18) of the patients with pathogenic CMA. Dysmorphism can be a phenotypic clue to pathogenic CNVs. Furthermore, pathogenic CNV might be more frequently found if patients have two or more clinical features in addition to DD/ID. © Copyright: Yonsei University College of Medicine 2018.

The clinical characteristics and the features of immunophenotype of peripheral lymphocytes of adult onset chronic active Epstein-Barr virus disease at a Tertiary Care Hospital in Beijing.

PubMed

Luo, Ling; Wang, Huanling; Fan, Hongwei; Xie, Jing; Qiu, Zhifeng; Li, Taisheng

2018-03-01

Chronic active Epstein-Barr virus (CAEBV) infection is a rare disease with high mortality. Most of CAEBV patients have been reported from Japan and are pediatric cases.The goal was to describe the clinical characteristics and the immunophenotypic features of peripheral lymphocytes in adult onset CAEBV patients.We retrospectively reviewed and analyzed all adult onset CAEBV cases admitted to Peking Union Medical College Hospital (PUMCH) between 2012 and 2016. Demographic, clinical, laboratory data, and the immunophentyping data of peripheral lymphocytes were collected.There were 28 adult onset CAEBV patients. The median age was 45 (range, 20-81). Most of the patients presented with fever; splenomegaly; lymphadenopathy and hepatitis. Unlike pediatric cases reported, the manifestations of cardiovascular diseases in our patients were pulmonary arterial hypertension, decreased cardiac function and aorta vasculitis. Prevalence of interstitial pneumonitis in our patients were comparatively higher and prevalence of hypersensitivity to mosquito bites were comparatively lower than that reported by Japan. In this study, CAEBV patients had decreased B cell, NK cell, CD4 cell and CD8 cell counts. The prevalence of low level of B cells, NK cells, CD4 cells was relatively higher than reported ever.Chinese adult onset CAEBV patients have different clinical characteristics and are featured by an immunosuppression status as demonstrated by decreased B cell, NK cell, CD4 cell and CD8 cell.

Optic neuritis with positive HLA-B27: Characteristic phenotype in the Chinese population.

PubMed

Zhao, Shuo; Zhou, Huanfen; Peng, Xudong; Zhu, Jian; Wang, Wei; Kang, Hao; Chen, Tingjun; Xu, Quangang; Wei, Shihui

2016-03-15

This study retrospectively reviewed the clinical features of optic neuritis (ON) with positive HLA-B27. Clinical data were reviewed for HLA-B27-positive ON in the Chinese People's Liberation Army General Hospital from January 2009 through June 2015. The prevalence of HLA-B27 and spondyloarthropathies was analyzed. Clinical features of HLA-B27-positive ON based on serum aquaporin 4-antibody (AQP4-Ab) were compared. A total of 22 ON patients (14 female/8 male, 38 involved eyes) with positive HLA-B27 were collected from 410 ON patients. Recurrent episodes were observed in 14/22 patients, and seven patients presented as bilateral simultaneous ON. A total of 68.4% (22/38) of involved eyes exhibited severe visual impairment (<0.1) at onset. A total of 8/22 patients were seropositive for AQP4-Ab, and clinical features did not differ based on AQP4-Ab status. Bilateral sacroiliitis was revealed in over 50% (7/13) of patients screened using pelvic computed tomography. Three patients were diagnosed with ankylosing spondylitis (AS), and one patient experienced co-occurrence of active AS and bilateral ON. HLA-B27-positive ON may presented recurrent episodes and severe visual impairment at onset. The co-occurrence of ON and AS, and the frequent presence of bilateral sacroiliitis may indicate an underlying alternation of autoimmune background in this condition. Copyright © 2016 Elsevier B.V. All rights reserved.

The clinical characteristics and the features of immunophenotype of peripheral lymphocytes of adult onset chronic active Epstein-Barr virus disease at a Tertiary Care Hospital in Beijing

PubMed Central

Luo, Ling; Wang, Huanling; Fan, Hongwei; Xie, Jing; Qiu, Zhifeng; Li, Taisheng

2018-01-01

Abstract Chronic active Epstein-Barr virus (CAEBV) infection is a rare disease with high mortality. Most of CAEBV patients have been reported from Japan and are pediatric cases. The goal was to describe the clinical characteristics and the immunophenotypic features of peripheral lymphocytes in adult onset CAEBV patients. We retrospectively reviewed and analyzed all adult onset CAEBV cases admitted to Peking Union Medical College Hospital (PUMCH) between 2012 and 2016. Demographic, clinical, laboratory data, and the immunophentyping data of peripheral lymphocytes were collected. There were 28 adult onset CAEBV patients. The median age was 45 (range, 20–81). Most of the patients presented with fever; splenomegaly; lymphadenopathy and hepatitis. Unlike pediatric cases reported, the manifestations of cardiovascular diseases in our patients were pulmonary arterial hypertension, decreased cardiac function and aorta vasculitis. Prevalence of interstitial pneumonitis in our patients were comparatively higher and prevalence of hypersensitivity to mosquito bites were comparatively lower than that reported by Japan. In this study, CAEBV patients had decreased B cell, NK cell, CD4 cell and CD8 cell counts. The prevalence of low level of B cells, NK cells, CD4 cells was relatively higher than reported ever. Chinese adult onset CAEBV patients have different clinical characteristics and are featured by an immunosuppression status as demonstrated by decreased B cell, NK cell, CD4 cell and CD8 cell. PMID:29489682

Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.

PubMed

Rossi, Mari; El-Khechen, Dima; Black, Mary Helen; Farwell Hagman, Kelly D; Tang, Sha; Powis, Zöe

2017-05-01

Exome sequencing has recently been proved to be a successful diagnostic method for complex neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large cohorts to date. We performed diagnostic exome sequencing in a cohort of 163 individuals with autism spectrum disorder (66.3%) or autistic features (33.7%). The diagnostic yield observed in patients in our cohort was 25.8% (42 of 163) for positive or likely positive findings in characterized disease genes, while a candidate genetic etiology was reported for an additional 3.3% (4 of 120) of patients. Among the positive findings in the patients with autism spectrum disorder or autistic features, 61.9% were the result of de novo mutations. Patients presenting with psychiatric conditions or ataxia or paraplegia in addition to autism spectrum disorder or autistic features were significantly more likely to receive positive results compared with patients without these clinical features (95.6% vs 27.1%, P < 0.0001; 83.3% vs 21.2%, P < 0.0001, respectively). The majority of the positive findings were in recently identified autism spectrum disorder genes, supporting the importance of diagnostic exome sequencing for patients with autism spectrum disorder or autistic features as the causative genes might evade traditional sequential or panel testing. These results suggest that diagnostic exome sequencing would be an efficient primary diagnostic method for patients with autism spectrum disorders or autistic features. Moreover, our data may aid clinicians to better determine which subset of patients with autism spectrum disorder with additional clinical features would benefit the most from diagnostic exome sequencing. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

Clinical features and outcome of typhoid fever and invasive non-typhoidal salmonellosis in a tertiary hospital in Belgium: analysis and review of the literature.

PubMed

Yombi, J C; Martins, L; Vandercam, B; Rodriguez-Villalobos, H; Robert, A

2015-08-01

Typhoid fever (TF) occurs rarely in industrialized countries because of advances in health care and improvement of drinking water. Conversely, non-typhoid salmonellosis (NTS) remains widespread, because of food contamination or asymptomatic carriage. Non-typhoid salmonellosis can be severe when becoming invasive non-typhoid salmonellosis (iNTS). Although established prognostic indicators of the two pathologies are different, direct comparisons between iNTS and TF in the literature remain scarce. The purpose of this study was to analyse and compare demographic, clinical features and outcome of hospitalized patients with TF and iNTS. Demographic, clinical features and outcome were retrospectively analysed in a series of patients hospitalized between 2007 and 2012. A total of 33 patients were enrolled, including 13 with established TF and 20 with iNTS. No differences between TF and iNTS patients were observed in incidence of fever, abdominal cramps, diarrhoea, headache, nausea and vomiting and duration of antibiotic therapy (≤ 7 days in both groups). Although the clinical outcome of TF patients was identical to that of iNTS patients, including incidence of complications, length of hospitalization and mortality (1/13 (7.7%) vs 2/20 (10%), P = 0.43), comorbidities were less frequent in the TF group than in the iNTS group (2/13 vs 15/20, P = 0.003). The clinical profile and outcome of TF patients are similar to those with iNTS. Although comorbidities are more often associated with iNTS, the results of our study suggest that clinical management of these two diseases should remain similar.

Infective endocarditis in drug addicts: role of HIV infection and the diagnostic accuracy of Duke criteria.

PubMed

Cecchi, Enrico; Imazio, Massimo; Tidu, Massimo; Forno, Davide; De Rosa, Francesco Giuseppe; Dal Conte, Ivano; Preziosi, Costantina; Lipani, Filippo; Trinchero, Rita

2007-03-01

Intravenous drug users (IVDUs) are at increased risk of infective endocarditis. Moreover, HIV infection is common in IVDUs, with a reported prevalence of 40-90%. The clinical features of IVDUs with infective endocarditis and HIV infection may be peculiar. Few data have been reported on the diagnostic accuracy of Duke criteria in IVDUs with or without HIV infection, and a comparison of these two populations is lacking. The present study aimed to compare prospectively the clinical features of patients with infective endocarditis with or without HIV infection and to evaluate the diagnostic accuracy of Duke criteria in these patients. The study population consisted of 201 consecutive adult IVDUs with a suspected infective endocarditis (102 patients with HIV infection and 99 patients without HIV infection). Infective endocarditis was the final diagnosis in 40 of 102 patients (38.2%) with HIV infection and in 55 of 99 HIV-negative patients (55.6%). Despite similar baseline features, longer vegetations were recorded in infective endocarditis without HIV infection (23.7 +/- 7.1 mm versus 13.6 +/- 6.8 mm; P = 0.001). Patients with infective endocarditis and HIV infection had a higher total mortality at 2 months (respectively 12.5% versus 1.8%; P = 0.09); almost all the deaths were recorded in patients with AIDS or a CD4 cell count below 200 per microl, and no deaths were recorded in patients with HIV infection and a CD4 cell count > 500 per microl. Despite no identical clinical features, Duke criteria had a similar sensitivity, specificity and diagnostic accuracy in IVDUs with and without HIV infection.

[Rocky Mountain spotted fever in children: clinical and epidemiological features].

PubMed

Martínez-Medina, Miguel Angel; Alvarez-Hernández, Gerardo; Padilla-Zamudioa, José Guillermo; Rojas-Guerra, Maria Guadalupe

2007-01-01

To report the clinical features of the Rocky Mountain spotted fever (RMSF) in children of southern Sonora, Mexico. Nine cases were studied at the Sonora State Children's Hospital. One case was defined by clinical features and positive serological tests (indirect immunofluorescence assay or reaction to Proteus OX 19). Demographic and clinical characteristics of the patients were registered. The study subjects were children from two to twelve years ofage. All patients have had contact with tick-infested dogs and had fever, as well as petechial rash. Laboratory findings included high levels of hepatic aminotransferase, hyponatremia and thrombocytopenia. Therapy with chloramphenicol and doxyciclyne was administered after the first seven days of the onset of illness. The mortality rate was 22%. This study supports the presence of RMSF in the state of Sonora, Mexico, which should be considered as a public health hazard, requiring immediate actions for prevention and control.

Infiltrative cervical lesions causing symptomatic occipital neuralgia.

PubMed

Sierra-Hidalgo, F; Ruíz, J; Morales-Cartagena, A; Martínez-Salio, A; Serna, J de la; Hernández-Gallego, J

2011-10-01

Occipital neuralgia is a well-recognized cause of posterior head and neck pain that may associate mild sensory changes in the cutaneous distribution of the occipital nerves, lacking a recognizable local structural aetiology in most cases. Atypical clinical features or an abnormal neurological examination are alerts for a potential underlying cause of pain, although cases of clinically typical occipital neuralgia as isolated manifestation of lesions of the cervical spinal cord, cervical roots, or occipital nerves have been increasingly reported. We describe two cases (one with typical and another one with atypical clinical features) of occipital neuralgia secondary to paravertebral pyomyositis and vertebral relapse of multiple myeloma in patients with relevant medical history that aroused the possibility of an underlying structural lesion. We discuss the need for cranio-cervical magnetic resonance imaging in all patients with occipital neuralgia, even when typical clinical features are present and neurological examination is completely normal.

Spectrum of Celiac disease in Paediatric population: Experience of Tertiary Care Center from Pakistan.

PubMed

Aziz, Danish Abdul; Kahlid, Misha; Memon, Fozia; Sadiq, Kamran

2017-01-01

To determine clinical features and relevant laboratory investigations of patient with celiac disease (CD) and comparing classical celiac disease (CCD) with Non-diarrheal celiac disease (NDCD). This is a five years retrospective study conducted at The Aga Khan University Hospital Karachi, Pakistan from January 2010 to December 2015, enrolling children from one year to 15 years of either gender diagnosed as celiac disease in accordance with revised ESPGHAN criteria. Biopsy samples with grade 2 or more on Modified Marsh Classification were considered as consistent with celiac disease. Celiac patients were categorized into Classical celiac disease (with Chronic Diarrhea) and non-diarrheal celiac disease (Atypical celiac) and their clinical features and relevant laboratory investigations were documented. Total 66 patients were selected with celiac disease according to inclusion criteria, 39 (59.09%) patients were labeled as CCD and 27 (40.91%) patients were labeled as NDCD. Marsh grading 3a and above were more marked in CCD as compared to NDCD. Mean titer for Tissue transglutaminase antibodies (TTG) were higher in CCD group in comparison to NDCD group. In CCD, the most common clinical presentations were abdominal distension whereas in NDCD, the most remarkable features were recurrent abdominal pain (62.9%). Frequency of failure to thrive is significantly high in CCD (82.05%) but patients merely with short stature were more common in NDCD (33.3%). Refractory anemia was present in 66.6% patients in NDCD group and 41.1% patients in CCD group. 74.3% patients in CCD group were vitamin D deficient whereas 85% patient had vitamin D deficiency in NDCD group (p= 0.03). NDCD is not uncommon in our population. Recurrent abdominal pain, failure to thrive or patients only with short stature and refractory anemia are prominent features in NCDC group whereas abdominal distension, failure to thrive and recurrent abdominal pain were noticeable features in CCD. High grade histopathology and raised antibodies titer is hallmark of CCD. Vitamin D deficiency is almost equally present in both groups.

Clinical characteristics and initial management of patients with tuberculous pericarditis in the HIV era: the Investigation of the Management of Pericarditis in Africa (IMPI Africa) registry

PubMed Central

Mayosi, Bongani M; Wiysonge, Charles Shey; Ntsekhe, Mpiko; Volmink, Jimmy A; Gumedze, Freedom; Maartens, Gary; Aje, Akinyemi; Thomas, Baby M; Thomas, Kandathil M; Awotedu, Abolade A; Thembela, Bongani; Mntla, Phindile; Maritz, Frans; Blackett, Kathleen Ngu; Nkouonlack, Duquesne C; Burch, Vanessa C; Rebe, Kevin; Parish, Andy; Sliwa, Karen; Vezi, Brian Z; Alam, Nowshad; Brown, Basil G; Gould, Trevor; Visser, Tim; Shey, Muki S; Magula, Nombulelo P; Commerford, Patrick J

2006-01-01

Background The incidence of tuberculous pericarditis has increased in Africa as a result of the human immunodeficiency virus (HIV) epidemic. However, the effect of HIV co-infection on clinical features and prognosis in tuberculous pericarditis is not well characterised. We have used baseline data of the Investigation of the Management of Pericarditis in Africa (IMPI Africa) registry to assess the impact of HIV co-infection on clinical presentation, diagnostic evaluation, and treatment of patients with suspected tuberculous pericarditis in sub-Saharan Africa. Methods Consecutive adult patients in 15 hospitals in three countries in sub-Saharan Africa were recruited on commencement of treatment for tuberculous pericarditis, following informed consent. We recorded demographic, clinical, diagnostic and therapeutic information at baseline, and have used the chi-square test and analysis of variance to assess probabilities of significant differences (in these variables) between groups defined by HIV status. Results A total of 185 patients were enrolled from 01 March 2004 to 31 October 2004, 147 (79.5%) of whom had effusive, 28 (15.1%) effusive-constrictive, and 10 (5.4%) constrictive or acute dry pericarditis. Seventy-four (40%) had clinical features of HIV infection. Patients with clinical HIV disease were more likely to present with dyspnoea (odds ratio [OR] 3.2, 95% confidence interval [CI] 1.4 to 7.4, P = 0.005) and electrocardiographic features of myopericarditis (OR 2.8, 95% CI 1.1 to 6.9, P = 0.03). In addition to electrocardiographic features of myopericarditis, a positive HIV serological status was associated with greater cardiomegaly (OR 3.89, 95% CI 1.34 to 11.32, P = 0.01) and haemodynamic instability (OR 9.68, 95% CI 2.09 to 44.80, P = 0.0008). However, stage of pericardial disease at diagnosis and use of diagnostic tests were not related to clinical HIV status. Similar results were obtained for serological HIV status. Most patients were treated on clinical grounds, with microbiological evidence of tuberculosis obtained in only 13 (7.0%) patients. Adjunctive corticosteroids were used in 109 (58.9%) patients, with patients having clinical HIV disease less likely to be put on them (OR 0.37, 95% CI 0.20 to 0.68). Seven patients were on antiretroviral drugs. Conclusion Patients with suspected tuberculous pericarditis and HIV infection in Africa have greater evidence of myopericarditis, dyspnoea, and haemodynamic instability. These findings, if confirmed in other studies, may suggest more intensive management of the cardiac disease is warranted in patients with HIV-associated pericardial disease. PMID:16396690

Fat embolism syndrome in long bone trauma following vehicular accidents: Experience from a tertiary care hospital in north India.

PubMed

Koul, Parvaiz A; Ahmad, Feroze; Gurcoo, Showkat A; Khan, Umar H; Naqash, Imtiyaz A; Sidiq, Suhail; Jan, Rafi Ahmad; Koul, Ajaz N; Ashraf, Mohammad; Bhat, Mubasher Ahmad

2013-04-01

Fat embolism syndrome (FES) is a clinical problem arising mainly due to fractures particularly of long bones and pelvis. Not much literature is available about FES from the Indian subcontinent. Thirty-five patients referred/admitted prospectively over a 3-year period for suspected FES to a north Indian tertiary care center and satisfying the clinical criteria proposed by Gurd and Wilson, and Schonfeld were included in the study. Clinical features, risk factors, complications, response to treatment and any sequelae were recorded. The patients (all male) presented with acute onset breathlessness, 36-120 hours following major bone trauma due to vehicular accidents. Associated features included features of cerebral dysfunction (n = 24, 69%), petechial rash (14%), tachycardia (94%) and fever (46%). Hypoxemia was demonstrable in 80% cases, thrombocytopenia in 91%, anemia in 94% and hypoalbuminemia in 59%. Bilateral alveolar infiltrates were seen on chest radiography in 28 patients and there was evidence of bilateral ground glass appearance in 5 patients on CT. Eleven patients required ventilatory assistance whereas others were treated with supportive management. Three patients expired due to associated sepsis and respiratory failure, whereas others recovered with a mean hospital stay of 9 days. No long term sequelae were observed. FES remains a clinical challenge and is a diagnosis of exclusion based only on clinical grounds because of the absence of any specific laboratory test. A high index of suspicion is required for diagnosis and initiating supportive management in patients with traumatic fractures, especially in those having undergone an invasive orthopedic procedure.

Fat embolism syndrome in long bone trauma following vehicular accidents: Experience from a tertiary care hospital in north India

PubMed Central

Koul, Parvaiz A.; Ahmad, Feroze; Gurcoo, Showkat A.; Khan, Umar H.; Naqash, Imtiyaz A.; Sidiq, Suhail; Jan, Rafi Ahmad; Koul, Ajaz N.; Ashraf, Mohammad; Bhat, Mubasher Ahmad

2013-01-01

Background: Fat embolism syndrome (FES) is a clinical problem arising mainly due to fractures particularly of long bones and pelvis. Not much literature is available about FES from the Indian subcontinent. Materials and Methods: Thirty-five patients referred/admitted prospectively over a 3-year period for suspected FES to a north Indian tertiary care center and satisfying the clinical criteria proposed by Gurd and Wilson, and Schonfeld were included in the study. Clinical features, risk factors, complications, response to treatment and any sequelae were recorded. Results: The patients (all male) presented with acute onset breathlessness, 36-120 hours following major bone trauma due to vehicular accidents. Associated features included features of cerebral dysfunction (n = 24, 69%), petechial rash (14%), tachycardia (94%) and fever (46%). Hypoxemia was demonstrable in 80% cases, thrombocytopenia in 91%, anemia in 94% and hypoalbuminemia in 59%. Bilateral alveolar infiltrates were seen on chest radiography in 28 patients and there was evidence of bilateral ground glass appearance in 5 patients on CT. Eleven patients required ventilatory assistance whereas others were treated with supportive management. Three patients expired due to associated sepsis and respiratory failure, whereas others recovered with a mean hospital stay of 9 days. No long term sequelae were observed. Conclusion: FES remains a clinical challenge and is a diagnosis of exclusion based only on clinical grounds because of the absence of any specific laboratory test. A high index of suspicion is required for diagnosis and initiating supportive management in patients with traumatic fractures, especially in those having undergone an invasive orthopedic procedure. PMID:23741088

Stinging and biting insect allergy: an Australian experience.

PubMed

Solley, Graham O

2004-12-01

Stings and bites from various insects are responsible for many anaphylactic events. To document the clinical features of specific forms of anaphylaxis and investigate clinical concerns regarding stinging and biting insect allergy. All patients presenting for evaluation of adverse reactions to insect stings or bites between December 1980 and December 1997 had the clinical details of their reactions recorded and their reactions classified. The spectrum of clinical symptoms and signs is similar to that seen in anaphylaxis from other sources; stings on the head or neck are not more likely to cause life-threatening reactions than stings elsewhere on the body; a lesser reaction will not necessarily lead to a more serious reaction from a future sting; asthmatic patients do appear to have an increased risk of asthma as a feature of their anaphylactic response; anaphylaxis is usually confined to a particular insect species for the individual patient; patients who have had multiple stings at one time may have experienced true anaphylaxis and not a "toxic" response; and patients who have had anaphylaxis from other sources are at no greater risk than that of the general population of reacting similarly to insect stings or bites. Anaphylactic events from insect stings show the same clinical features as those from other sources. Systemic reactions seem confined to a specific insect species. Patients who experience RXN3 reactions from multiple stings at one time should undergo specific venom testing, because many have experienced true anaphylaxis and not a toxic response. Future consideration should be given to the role of beta-adrenergic antagonists and ACE inhibitors in patients with systemic reactions.

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

PubMed Central

Vanderver, Adeline; van Spaendonk, Rosalina M.L.; Schiffmann, Raphael; Brais, Bernard; Bugiani, Marianna; Sistermans, Erik; Catsman-Berrevoets, Coriene; Kros, Johan M.; Pinto, Pedro Soares; Pohl, Daniela; Tirupathi, Sandya; Strømme, Petter; de Grauw, Ton; Fribourg, Sébastien; Demos, Michelle; Pizzino, Amy; Naidu, Sakkubai; Guerrero, Kether; van der Knaap, Marjo S.; Bernard, Geneviève

2014-01-01

Objective: To study the clinical and radiologic spectrum and genotype–phenotype correlation of 4H (hypomyelination, hypodontia, hypogonadotropic hypogonadism) leukodystrophy caused by mutations in POLR3A or POLR3B. Methods: We performed a multinational cross-sectional observational study of the clinical, radiologic, and molecular characteristics of 105 mutation-proven cases. Results: The majority of patients presented before 6 years with gross motor delay or regression. Ten percent had an onset beyond 10 years. The disease course was milder in patients with POLR3B than in patients with POLR3A mutations. Other than the typical neurologic, dental, and endocrine features, myopia was seen in almost all and short stature in 50%. Dental and hormonal findings were not invariably present. Mutations in POLR3A and POLR3B were distributed throughout the genes. Except for French Canadian patients, patients from European backgrounds were more likely to have POLR3B mutations than other populations. Most patients carried the common c.1568T>A POLR3B mutation on one allele, homozygosity for which causes a mild phenotype. Systematic MRI review revealed that the combination of hypomyelination with relative T2 hypointensity of the ventrolateral thalamus, optic radiation, globus pallidus, and dentate nucleus, cerebellar atrophy, and thinning of the corpus callosum suggests the diagnosis. Conclusions: 4H is a well-recognizable clinical entity if all features are present. Mutations in POLR3A are associated with a more severe clinical course. MRI characteristics are helpful in addressing the diagnosis, especially if patients lack the cardinal non-neurologic features. PMID:25339210

The myositis autoantibody phenotypes of the juvenile idiopathic inflammatory myopathies.

PubMed

Rider, Lisa G; Shah, Mona; Mamyrova, Gulnara; Huber, Adam M; Rice, Madeline Murguia; Targoff, Ira N; Miller, Frederick W

2013-07-01

The juvenile idiopathic inflammatory myopathies (JIIM) are systemic autoimmune diseases characterized by skeletal muscle weakness, characteristic rashes, and other systemic features. In follow-up to our study defining the major clinical subgroup phenotypes of JIIM, we compared demographics, clinical features, laboratory measures, and outcomes among myositis-specific autoantibody (MSA) subgroups, as well as with published data on adult idiopathic inflammatory myopathy patients enrolled in a separate natural history study. In the present study, of 430 patients enrolled in a nationwide registry study who had serum tested for myositis autoantibodies, 374 had either a single specific MSA (n = 253) or no identified MSA (n = 121) and were the subject of the present report. Following univariate analysis, we used random forest classification and exact logistic regression modeling to compare autoantibody subgroups. Anti-p155/140 autoantibodies were the most frequent subgroup, present in 32% of patients with juvenile dermatomyositis (JDM) or overlap myositis with JDM, followed by anti-MJ autoantibodies, which were seen in 20% of JIIM patients, primarily in JDM. Other MSAs, including anti-synthetase, anti-signal recognition particle (SRP), and anti-Mi-2, were present in only 10% of JIIM patients. Features that characterized the anti-p155/140 autoantibody subgroup included Gottron papules, malar rash, "shawl-sign" rash, photosensitivity, cuticular overgrowth, lowest creatine kinase (CK) levels, and a predominantly chronic illness course. The features that differed for patients with anti-MJ antibodies included muscle cramps, dysphonia, intermediate CK levels, a high frequency of hospitalization, and a monocyclic disease course. Patients with anti-synthetase antibodies had higher frequencies of interstitial lung disease, arthralgia, and "mechanic's hands," and had an older age at diagnosis. The anti-SRP group, which had exclusively juvenile polymyositis, was characterized by high frequencies of black race, severe onset, distal weakness, falling episodes, Raynaud phenomenon, cardiac involvement, high CK levels, chronic disease course, frequent hospitalization, and wheelchair use. Characteristic features of the anti-Mi-2 subgroup included Hispanic ethnicity, classic dermatomyositis and malar rashes, high CK levels, and very low mortality. Finally, the most common features of patients without any currently defined MSA or myositis-associated autoantibodies included linear extensor erythema, arthralgia, and a monocyclic disease course. Several demographic and clinical features were shared between juvenile and adult idiopathic inflammatory myopathy subgroups, but with several important differences. We conclude that juvenile myositis is a heterogeneous group of illnesses with distinct autoantibody phenotypes defined by varying clinical and demographic characteristics, laboratory features, and outcomes.

The Myositis Autoantibody Phenotypes of the Juvenile Idiopathic Inflammatory Myopathies

PubMed Central

Shah, Mona; Mamyrova, Gulnara; Huber, Adam M.; Rice, Madeline Murguia; Targoff, Ira N.; Miller, Frederick W.

2013-01-01

Abstract The juvenile idiopathic inflammatory myopathies (JIIM) are systemic autoimmune diseases characterized by skeletal muscle weakness, characteristic rashes, and other systemic features. In follow-up to our study defining the major clinical subgroup phenotypes of JIIM, we compared demographics, clinical features, laboratory measures, and outcomes among myositis-specific autoantibody (MSA) subgroups, as well as with published data on adult idiopathic inflammatory myopathy patients enrolled in a separate natural history study. In the present study, of 430 patients enrolled in a nationwide registry study who had serum tested for myositis autoantibodies, 374 had either a single specific MSA (n = 253) or no identified MSA (n = 121) and were the subject of the present report. Following univariate analysis, we used random forest classification and exact logistic regression modeling to compare autoantibody subgroups. Anti-p155/140 autoantibodies were the most frequent subgroup, present in 32% of patients with juvenile dermatomyositis (JDM) or overlap myositis with JDM, followed by anti-MJ autoantibodies, which were seen in 20% of JIIM patients, primarily in JDM. Other MSAs, including anti-synthetase, anti-signal recognition particle (SRP), and anti-Mi-2, were present in only 10% of JIIM patients. Features that characterized the anti-p155/140 autoantibody subgroup included Gottron papules, malar rash, “shawl-sign” rash, photosensitivity, cuticular overgrowth, lowest creatine kinase (CK) levels, and a predominantly chronic illness course. The features that differed for patients with anti-MJ antibodies included muscle cramps, dysphonia, intermediate CK levels, a high frequency of hospitalization, and a monocyclic disease course. Patients with anti-synthetase antibodies had higher frequencies of interstitial lung disease, arthralgia, and “mechanic’s hands,” and had an older age at diagnosis. The anti-SRP group, which had exclusively juvenile polymyositis, was characterized by high frequencies of black race, severe onset, distal weakness, falling episodes, Raynaud phenomenon, cardiac involvement, high CK levels, chronic disease course, frequent hospitalization, and wheelchair use. Characteristic features of the anti-Mi-2 subgroup included Hispanic ethnicity, classic dermatomyositis and malar rashes, high CK levels, and very low mortality. Finally, the most common features of patients without any currently defined MSA or myositis-associated autoantibodies included linear extensor erythema, arthralgia, and a monocyclic disease course. Several demographic and clinical features were shared between juvenile and adult idiopathic inflammatory myopathy subgroups, but with several important differences. We conclude that juvenile myositis is a heterogeneous group of illnesses with distinct autoantibody phenotypes defined by varying clinical and demographic characteristics, laboratory features, and outcomes. PMID:23877355

Organophosphate poisoning in Rhodesia. A study of the clinical features and management of 105 patients.

PubMed

Hayes, M M; van der Westhuizen, N G; Gelfand, M

1978-08-05

A series of 105 patients with organophosphate poisoning admitted to Harari Hospital during the past 4 years is described. Poisoning with organophosphate compounds is being seen more frequently in hospital practice in Rhodesia. Many of the cases are attempted suicides, but frequently there is no positive history of contact with the poison. The majority of patients exhibit the classic clinical features of parasympathetic overactivity, but diagnosis may be obscured by atypical presentation. Rapid diagnosis and utilization of the treatment regimen outlined in this article should reduce the mortality to less than 15%.

Clinical aspects of the fragile X syndrome.

PubMed

Brown, W Ted

2012-01-01

Fragile X syndrome patients express a wide array of cognitive and other gender-specific phenotypic features. These manifestations result not only from molecular mechanisms that are altered as a result of the expansion of a CGG-repeat region in the FMR1 promoter, but also genetic factors such as founder effects and mosaicism. In this chapter, I will summarize the many and varied features of fragile X syndrome as they present themselves in a clinical setting and describe the procedures that are used to diagnose patients. Finally, I will briefly touch on recent developments that will affect patient screening in the future.

Design and rationale of the ANALYZE ST study: a prospective, nonrandomized, multicenter ST monitoring study to detect acute coronary syndrome events in implantable cardioverter-defibrillator patients.

PubMed

Gibson, C Michael; Krucoff, Mitchell; Kirtane, Ajay J; Rao, Sunil V; Mackall, Judith A; Matthews, Ray; Saba, Samir; Waksman, Ron; Holmes, David

2014-10-01

In the setting of ST-segment elevation myocardial infarction, timely restoration of normal blood flow is associated with improved myocardial salvage and survival. Despite improvements in door-to-needle and door-to-balloon times, there remains an unmet need with respect to improved symptom-to-door times. A prior report of an implanted device to monitor ST-segment deviation demonstrated very short times to reperfusion among patients with an acute coronary syndrome (ACS) with documented thrombotic occlusion. The goal of the ANALYZE ST study is to evaluate the safety and effectiveness of a novel ST-segment monitoring feature using an existing implantable cardioverter-defibrillator (ICD) among patients with known coronary artery disease. The ANALYZE ST study is a prospective, nonrandomized, multicenter, pivotal Investigational Device Exemption study enrolling 5,228 patients with newly implanted ICD systems for standard clinical indications who also have a documented history of coronary artery disease. Patients will be monitored for 48 months, during which effectiveness of the device for the purpose of early detection of cardiac injury will be evaluated by analyzing the sensitivity of the ST monitoring feature to identify clinical ACS events. In addition, the safety of the ST monitoring feature will be evaluated through the assessment of the percentage of patients for which monitoring produces a false-positive event over the course of 12 months. The ANALYZE ST trial is testing the hypothesis that the ST monitoring feature in the Fortify ST ICD system (St. Jude Medical, Inc., St. Paul, MN) (or other ICD systems with the ST monitoring feature) will accurately identify patients with clinical ACS events. Copyright © 2014 Mosby, Inc. All rights reserved.

Clinical and epidemiological features of chronic Trypanosoma cruzi infection in patients with HIV/AIDS in Buenos Aires, Argentina.

PubMed

Benchetrit, Andrés Guillermo; Fernández, Marisa; Bava, Amadeo Javier; Corti, Marcelo; Porteiro, Norma; Martínez Peralta, Liliana

2018-02-01

Trypanosoma cruzi reactivation in HIV patients is considered an opportunistic infection, usually with a fatal outcome. The aim of this study was to describe the epidemiological and clinical features of T. cruzi infection in HIV patients and to compare these findings between patients with and without Chagas disease reactivation. The medical records of T. cruzi-HIV co-infected patients treated at the Muñiz Infectious Diseases Hospital from January 2005 to December 2014 were reviewed retrospectively. Epidemiological and clinical features were assessed and compared between patients with and without Chagas disease reactivation. The medical records of 80 T. cruzi-HIV co-infected patients were reviewed. The most likely route of T. cruzi infection was vector-borne (32/80 patients), followed by intravenous drug use (12/80). Nine of 80 patients had reactivation. Patients without reactivation had a significantly higher CD4 T-cell count at diagnosis of T. cruzi infection (144 cells/μl vs. 30 cells/μl, p=0.026). Chagas disease serology was negative in two of nine patients with reactivation. Serological assays for T. cruzi infection may be negative in severely immunocompromised patients. Direct parasitological techniques should be performed in the diagnosis of patients for whom there is a suspicion of T. cruzi reactivation. HIV patients with a lower CD4 count are at higher risk of reactivation. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

Association between US features of primary tumor and axillary lymph node metastasis in patients with clinical T1-T2N0 breast cancer.

PubMed

Bae, Min Sun; Shin, Sung Ui; Song, Sung Eun; Ryu, Han Suk; Han, Wonshik; Moon, Woo Kyung

2018-04-01

Background Most patients with early-stage breast cancer have clinically negative lymph nodes (LNs). However, 15-20% of patients have axillary nodal metastasis based on the sentinel LN biopsy. Purpose To assess whether ultrasound (US) features of a primary tumor are associated with axillary LN metastasis in patients with clinical T1-T2N0 breast cancer. Material and Methods This retrospective study included 138 consecutive patients (median age = 51 years; age range = 27-78 years) who underwent breast surgery with axillary LN evaluation for clinically node-negative T1-T2 breast cancer. Three radiologists blinded to the axillary surgery results independently reviewed the US images. Tumor distance from the skin and distance from the nipple were determined based on the US report. Association between US features of a breast tumor and axillary LN metastasis was assessed using a multivariate logistic regression model after controlling for clinicopathologic variables. Results Of the 138 patients, 28 (20.3%) had nodal metastasis. At univariate analysis, tumor distance from the skin ( P = 0.019), tumor size on US ( P = 0.023), calcifications ( P = 0.036), architectural distortion ( P = 0.001), and lymphovascular invasion ( P = 0.049) were associated with axillary LN metastasis. At multivariate analysis, shorter skin-to-tumor distance (odds ratio [OR] = 4.15; 95% confidence interval [CI] = 1.01-16.19; P = 0.040) and masses with associated architectural distortion (OR = 3.80; 95% CI = 1.57-9.19; P = 0.003) were independent predictors of axillary LN metastasis. Conclusion US features of breast cancer can be promising factors associated with axillary LN metastasis in patients with clinically node-negative early-stage breast cancer.

Aggressive behavior and poor prognosis of endometrial stromal sarcomas with YWHAE-FAM22 rearrangement indicate the clinical importance to recognize this subset.

PubMed

Kruse, Arnold-Jan; Croce, Sabrina; Kruitwagen, Roy F P M; Riedl, Robert G; Slangen, Brigitte F M; Van Gorp, Toon; Van de Vijver, Koen K

2014-11-01

Although the World Health Organization (WHO) in 2003 defined endometrial stromal sarcomas (ESSs) in general have a good prognosis, considerable differences in clinical behavior and prognosis may exist between different patients with ESS. The ESSs of the type associated with YWHAE-NUTM2 (previously named YWHAE-FAM22) fusion have a more aggressive clinical behavior and poorer prognosis than conventional ESS. Recently, the WHO 2014 classification recognizes this subset of ESS as a separate entity and classifies these as high-grade ESSs. Recognition of this subset has therefore an important clinical impact. We performed a review of the literature to delineate the clinicopathologic features of ESS patients with an YWHAE-NUTM2 rearrangement, with the goal to recognize this subset of ESS. We report a case of a woman with WHO 2014-defined high-grade ESS. Furthermore, published English literature was reviewed for YWHAE-FAM22 ESS and uterus. Twenty patients were identified, with a median age of 50 (range, 28-67) years. There were no clinical features able to recognize YWHAE-NUTM2 ESS. However, they characteristically contain specific histopathological features. Furthermore, YWHAE-NUTM2 ESSs are strongly cyclin D1 positive in contrast to conventional low-grade ESSs. YWHAE-NUTM2 ESSs represent a subset of ESSs with an aggressive clinical behavior and poor prognosis. Specific histopathological features may indicate the presence of YWHAE-NUTM2 rearrangement, which subsequently can be confirmed by cyclin D1 immunostaining.

Postural orthostatic tachycardia syndrome: Dental treatment considerations.

PubMed

Brooks, John K; Francis, Laurie A P

2006-04-01

Postural orthostatic tachycardia syndrome (POTS) is a chronic, relatively common autonomic disorder typically affecting younger females. It is distinguished by a dramatic increase in heart rate on the assumption of an upright posture from the supine position. The authors provide an overview of the demographics, clinical assessment, diagnostic features, differential diagnoses, pathogeneses and medical treatment of patients with POTS, with an emphasis on the clinical treatment of the dental patient affected by the syndrome. Patients frequently exhibit symptoms of lightheadedness, fatigue, palpitations and syncope. Patients with POTS may have Ehlers-Danlos syndrome, mitral valve prolapse, chronic fatigue syndrome or, rarely, the Brugada syndrome. Despite widespread dissemination of information regarding POTS in the medical literature, scant information on it has appeared in dental publications. Dentists need to be familiar with the clinical features of POTS and be prepared to treat patients at risk of developing syncope.

Primary mediastinal large B-cell lymphoma: Clinical features, prognostic factors and survival with RCHOP in Arab patients in the PET scan era.

PubMed

Al Shemmari, Salem; Sankaranarayanan, Sreedharan P; Krishnan, Yamini

2014-07-01

PMBCL is a distinct type of nonhodgkins lymphoma with specific clinicopathological features. To clarify clinical features, treatment alternatives and outcomes, we evaluated 28 Arab patients treated with chemotherapy or radiotherapy between 2006 and 2011. PMBCL lymphoma patients identified according to WHO classification and treated at KCCC between 2006 and 2011 were included in this study. Demographic and clinical data are presented as means or medians. Overall survival was estimated using the Kaplan-Meier method. Survival rates were compared using the log-rank test. A P < 0.05 was considered significant. The median age of the patients was 31 years and the male to female ratio was 2:1. Majority of the patients (75%) presented with stage I/II disease. Most had features of local extension like pleural effusion (18%) and SVCO (39%). Only 11% of the patients had bone marrow involvement at presentation. 96% of the patients required biopsy from the mediastinal mass either by image guided core biopsy (75%) or by surgical biopsy. Most patients were treated by RCHOP and involved field radiotherapy. Patients with positive PET scan after RCHOP chemotherapy received salvage chemotherapy and BEAM autologous marrow transplant. The five year OS for the entire group was 85% while the PFS was 73%. Patients who had PET scan for response evaluation had better OS [P = 0.013] and PFS [P = 0.039] when compared with those patients who received only radiotherapy based on CT scan evaluation. PMBCL is a specific lymphoma entity seen in the young with good survival. The role of PET scan for response evaluation and the type of consolidation therapy needs to be further clarified.

Frequency of WT1 and 11p15 constitutional aberrations and phenotypic correlation in childhood Wilms tumour patients.

PubMed

Segers, H; Kersseboom, R; Alders, M; Pieters, R; Wagner, A; van den Heuvel-Eibrink, M M

2012-11-01

In 9-17% of Wilms tumour patients a predisposing syndrome is present, in particular WT1-associated syndromes and overgrowth syndromes. Constitutional WT1 mutations or epigenetic changes on chromosome 11p15 have also been described in Wilms tumour patients without phenotypic abnormalities. Thus, the absence of phenotypic abnormalities does not exclude the presence of a genetic predisposition, suggesting that more Wilms tumour patients may have a constitutional abnormality. Therefore, we investigated the frequency of constitutional aberrations in combination with phenotype. Clinical genetic assessment, as well as molecular analysis of WT1 and locus 11p15 was offered to a single-centre cohort of 109 childhood Wilms tumour patients. Twelve patients (11%) had a WT1 aberration and eight patients (8%) had an 11p15 aberration. Of the 12 patients with a WT1 aberration, four had WAGR syndrome (Wilms tumor, aniridia, genitourinary malformations and mental retardation), one had Denys-Drash syndrome, four had genitourinary anomalies without other syndromic features and three had bilateral disease with stromal-predominant histology at young age without congenital anomalies. Of the eight patients with an 11p15 aberration, four had Beckwith-Wiedemann syndrome (BWS), two had minor features of BWS and two had no stigmata of BWS or hemihypertrophy. Constitutional WT1 or 11p15 aberrations are frequent in Wilms tumour patients and careful clinical assessment can identify the majority of these patients. Therefore, we would recommend offering clinical genetic counselling to all Wilms tumour patients, as well as molecular analysis to patients with clinical signs of a syndrome or with features that may indicate a constitutional WT1 or 11p15 aberration. Copyright © 2012 Elsevier Ltd. All rights reserved.

Tuberculous otitis media: clinical aspects of 12 cases.

PubMed

Nishiike, Suetaka; Irifune, Morihiro; Doi, Katsumi; Osaki, Yasuhiro; Kiuchi, Nobuo

2003-11-01

The clinical features of tuberculous otitis media (TOM) have changed. This study was performed to evaluate changing trends in the clinical manifestations of TOM. We reviewed a series of 12 cases of TOM (13 ears) recently treated at Osaka Prefectural Habikino Hospital. The results showed a mean age of 41 years and a male predominance of 1.4 to 1. Central or total perforations of the tympanic membrane were observed in most cases, but none of the patients had multiple perforations. Nine patients (75%) had active pulmonary tuberculosis. Normal lung status or inactive pulmonary tuberculosis was significantly more frequent in the older age group. Diagnosis of primary TOM required more time than that of secondary TOM. Most cases of primary TOM had high infectiousness of the primary lesion. We summarize the clinical features of patients who should be evaluated for TOM.

Identification of design features to enhance utilization and acceptance of systems for Internet-based decision support at the point of care.

PubMed

Gadd, C S; Baskaran, P; Lobach, D F

1998-01-01

Extensive utilization of point-of-care decision support systems will be largely dependent on the development of user interaction capabilities that make them effective clinical tools in patient care settings. This research identified critical design features of point-of-care decision support systems that are preferred by physicians, through a multi-method formative evaluation of an evolving prototype of an Internet-based clinical decision support system. Clinicians used four versions of the system--each highlighting a different functionality. Surveys and qualitative evaluation methodologies assessed clinicians' perceptions regarding system usability and usefulness. Our analyses identified features that improve perceived usability, such as telegraphic representations of guideline-related information, facile navigation, and a forgiving, flexible interface. Users also preferred features that enhance usefulness and motivate use, such as an encounter documentation tool and the availability of physician instruction and patient education materials. In addition to identifying design features that are relevant to efforts to develop clinical systems for point-of-care decision support, this study demonstrates the value of combining quantitative and qualitative methods of formative evaluation with an iterative system development strategy to implement new information technology in complex clinical settings.

[Analysis of clinical and imaging characteristics of infectious sacroiliac arthritis and review of literatures].

PubMed

Wang, Gang; Wang, Yanyan; Zhu, Jian; Jin, Jingyu; Zhao, Zheng; Zhang, Jianglin; Huang, Feng

2015-05-01

To study the clinical and imaging characteristics of patients with infectious sacroiliac arthritis. Twenty-one patients diagnosed with infectious sacroiliac arthritis were analyzed retrospectively between 2000 and 2014. The chief complaint was pain in hip and lumbosacral area. Their clinical features, laboratory tests and pathological examination results as well as CT/MRI/PET-CT images were evaluated. There were nine males and thirteen females eighteen (85.7%) patients had unilateral sacroiliac joint involvement. Among these patients, three were diagnosed with brucellosis sacroiliac arthritis (BSI), eight patients with tuberculosis sacroiliac arthritis (TSI), and ten patients with non-brucellosis and non-tuberculosis infectious sacroiliac arthritis (ISI). For those patients with non-brucellosis and non-tuberculosis infectious sacroiliac arthritis, white blood cell count, erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were dramatically increased. Twelve patients were diagnosed pathologically including 6 ISI, 2 BSI and 4 TSI. Twelve patients and seventeen patients were scanned by CT and MRI respectively. Two patients undertook PET-CT examination. Antibiotic therapy showed significant therapeutic effects in all patients. Infectious sacroiliac arthritis patients with hip or lumbosacral pain as the chief complaint can be easily misdiagnosed as spondyloarthritis. Comprehensive analysis of clinical features, imaging and laboratory findings is essential for accurate diagnosis.

Adult Orbital and Adnexal Xanthogranulomatous Disease.

PubMed

Davies, Michael J; Whitehead, Kevin; Quagliotto, Gary; Wood, Dominic; Patheja, Rajan S; Sullivan, Timothy J

2017-01-01

Adult xanthogranulomatous disease of the orbit and ocular adnexa is a rare disease that can cause serious morbidity and mortality. Ophthalmologists are commonly the first clinicians to come in contact with affected patients and an understanding of the clinical features is essential. We present a retrospective case series of patients seen in the oculoplastic unit of a large tertiary referral hospital over a 20-year period. The clinical files of 7 patients with adult xanthogranulomatous disease of the orbit and ocular adnexa were reviewed. Clinical, radiological, histopathological, and immunohistochemical findings were examined. Periocular clinical features included cutaneous xanthogranulomatous lesions, decreased visual acuity, proptosis, diplopia, skin ulceration, cicatricial ectropion, and mechanical ptosis. Systemic features included adult-onset asthma, disseminated xanthogranulomatous lesions with long bone involvement, and hematological disturbances such as monoclonal gammopathy and lymphoplasmacytic lymphoma. Lipid-laden macrophages and Touton multinucleated giant cells were histological hallmarks in all subtypes. Most lesions were strongly CD8 positive on immunohistochemistry. Radiologically, the lesions were diffuse and infiltrative in nature. Various treatments were employed with varying success including surgical excision, systemic and intralesional corticosteroids, other immunosuppressants, and systemic chemotherapy. Adult xanthogranulomatous disease of the orbit and ocular adnexa, although rare, may be sight or life threatening. Recognition by the ophthalmologist is critical as periocular features often constitute the initial presentation. Copyright 2017 Asia-Pacific Academy of Ophthalmology.

Clinical Characteristics and Outcome of Patients with Neuroblastoma Presenting Genomic Amplification of Loci Other than MYCN

PubMed Central

Guimier, Anne; Ferrand, Sandrine; Pierron, Gaëlle; Couturier, Jérôme; Janoueix-Lerosey, Isabelle; Combaret, Valérie; Mosseri, Véronique; Thebaud, Estelle; Gambart, Marion; Plantaz, Dominique; Marabelle, Aurélien; Coze, Carole; Rialland, Xavier; Fasola, Sylvie; Lapouble, Eve; Fréneaux, Paul; Peuchmaur, Michel; Michon, Jean; Delattre, Olivier; Schleiermacher, Gudrun

2014-01-01

Background Somatically acquired genomic alterations with MYCN amplification (MNA) are key features of neuroblastoma (NB), the most common extra-cranial malignant tumour of childhood. Little is known about the frequency, clinical characteristics and outcome of NBs harbouring genomic amplification(s) distinct from MYCN. Methods Genomic profiles of 1100 NBs from French centres studied by array-CGH were re-examined specifically to identify regional amplifications. Patients were included if amplifications distinct from the MYCN locus were seen. A subset of NBs treated at Institut Curie and harbouring MNA as determined by array-CGH without other amplification was also studied. Clinical and histology data were retrospectively collected. Results In total, 56 patients were included and categorised into 3 groups. Group 1 (n = 8) presented regional amplification(s) without MNA. Locus 12q13-14 was a recurrent amplified region (4/8 cases). This group was heterogeneous in terms of INSS stages, primary localisations and histology, with atypical clinical features. Group 2 (n = 26) had MNA as well as other regional amplifications. These patients shared clinical features of those of a group of NBs MYCN amplified (Group 3, n = 22). Overall survival for group 1 was better than that of groups 2 and 3 (5 year OS: 87.5%±11% vs 34.9%±7%, log-rank p<0.05). Conclusion NBs harbouring regional amplification(s) without MNA are rare and seem to show atypical features in clinical presentation and genomic profile. Further high resolution genetic explorations are justified in this heterogeneous group, especially when considering these alterations as predictive markers for targeted therapy. PMID:25013904

Differentiation of neuropsychological features between posterior cortical atrophy and early onset Alzheimer's disease.

PubMed

Li, Jieying; Wu, Liyong; Tang, Yi; Zhou, Aihong; Wang, Fen; Xing, Yi; Jia, Jianping

2018-05-10

Posterior cortical atrophy (PCA) is a group of clinical syndromes characterized by visuospatial and visuoperceptual impairment, with memory relatively preserved. Although PCA is pathologically almost identical to Alzheimer's disease (AD), they have different cognitive features. Those differences have only rarely been reported in any Chinese population. The purpose of the study is to establish neuropsychological tests that distinguish the clinical features of PCA from early onset AD (EOAD). Twenty-one PCA patients, 20 EOAD patients, and 20 healthy controls participated in this study. Patients had disease duration of ≤4 years. All participants completed a series of neuropsychological tests to evaluate their visuospatial, visuoperceptual, visuo-constructive, language, executive function, memory, calculation, writing, and reading abilities. The cognitive features of PCA and EOAD were compared. All the neuropsychological test scores showed that both the PCA and EOAD patients were significantly more impaired than people in the control group. However, PCA patients were significantly more impaired than EOAD patients in visuospatial, visuoperceptual, and visuo-constructive function, as well as in handwriting, and reading Chinese characters. The profile of neuropsychological test results highlights cognitive features that differ between PCA and EOAD. One surprising result is that the two syndromes could be distinguished by patients' ability to read and write Chinese characters. Tests based on these characteristics could therefore form a brief PCA neuropsychological examination that would improve the diagnosis of PCA.

Anatomical Features and Early Outcomes of Endovascular Repair of Abdominal Aortic Aneurysm from a Korean Multicenter Registry.

PubMed

Kwon, Hyunwook; Lee, Do Yun; Choi, Soo Jin Na; Park, Ki Hyuk; Min, Seung-Kee; Chang, Jeong-Hwan; Huh, Seung; Jeon, Yong Sun; Won, Jehwan; Byun, Seung Jae; Park, Sang Jun; Jang, Lee Chan; Kwon, Tae-Won

2015-09-01

To introduce a nation-based endovascular aneurysm repair (EVAR) registry in South Korea and to analyze the anatomical features and early clinical outcomes of abdominal aortic aneurysms (AAA) in patients who underwent EVAR. The Korean EVAR registry (KER) was a template-based online registry developed and established in 2009. The KER recruited 389 patients who underwent EVAR from 13 medical centers in South Korea from January 2010 to June 2010. We retrospectively reviewed the anatomic features and 30-day clinical outcomes. Initial deployment without open conversion was achieved in all cases and procedure-related 30-day mortality rate was 1.9%. Anatomic features showed the following variables: proximal aortic neck angle 48.8±25.7° (mean±standard deviation), vertical neck length 35.0±17.2 mm, aneurysmal sac diameter 57.2±14.2 mm, common iliac artery (CIA) involvement in 218 (56.3%) patients, and median right CIA length 34.9 mm. Two hundred and nineteen (56.3%) patients showed neck calcification, 98 patients (25.2%) had neck thrombus, and the inferior mesenteric arteries of 91 patients (23.4%) were occluded. Anatomical features of AAA in patients from the KER were characterized as having angulated proximal neck, tortuous iliac artery, and a higher rate of CIA involvement. Long-term follow-up and ongoing studies are required.

Clinical characteristics of 150 consecutive fibromyalgia patients attending an Australian public hospital clinic.

PubMed

Guymer, Emma K; Maruff, Paul; Littlejohn, Geoffrey O

2012-08-01

To describe clinical characteristics of fibromyalgia in an Australian population. Data was collected from 150 consecutive patients with clinical features of fibromyalgia seen in an Australian public hospital clinic. Demographic information and clinical characteristics were recorded. Significant correlations between clinical characteristics were identified, then used in multiple regression analyses to identify factors influencing outcome in physical function, pain, fatigue and sleep disturbance. Clinical features in groups who were or were not using different treatment strategies were compared. Most patients were female and Caucasian. The majority reported a recognizable trigger factor and many had associated conditions, most commonly headache and irritable bowel syndrome. Physical function was significantly accounted for by pain levels (P = 0.001); pain score was significantly predicted by tenderness (P = 0.002) and physical function level (P = 0.001); fatigue levels were significantly influenced by age (P = 0.007) and sleep disturbance (P < 0.001), and sleep disturbance was significantly predicted by fatigue (P < 0.001). Just over one-third (34%) of patients were using fibromyalgia medications (low-dose tricyclic antidepressant, pregabalin or duloxetine); however, they had less anxiety (P = 0.006) and better reported physical function (P = 0.04) than those who were not. Less than half (43.6%) of the patients were regularly exercising; however, they had reduced overall illness impact scores (P = 0.004), better physical function (P = 0.01) and less fatigue (P = 0.03), anxiety (P = 0.02) and depressive features (P = 0.008) than non-exercisers. Baseline clinical characteristics in this group were comparable to other study populations. The use of management modalities with proven benefit in fibromyalgia was limited; however, those patients who were engaged in regular exercise or using medication had better self-reported outcome measures than those who were not. © 2012 The Authors International Journal of Rheumatic Diseases © 2012 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

PubMed

Schönewolf-Greulich, B; Tejada, M-I; Stephens, K; Hadzsiev, K; Gauthier, J; Brøndum-Nielsen, K; Pfundt, R; Ravn, K; Maortua, H; Gener, B; Martínez-Bouzas, C; Piton, A; Rouleau, G; Clayton-Smith, J; Kleefstra, T; Bisgaard, A-M; Tümer, Z

2016-06-01

Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair substitution affecting Arg309 at the C-terminal end of the transcriptional repression domain (TRD). All patients have intellectual disability and present with some RTT features, but they do not fulfill the clinical criteria for typical or atypical RTT. Most of the patients also have mild facial dysmorphism. Intriguingly, the mother of an affected male patient is an asymptomatic carrier of this variant. It is therefore likely that the p.(Arg309Trp) variation does not necessarily lead to male lethality, and it results in a wide range of clinical features in females, probably influenced by different X-inactivation patterns in target tissues. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Predicting Functional Independence Measure Scores During Rehabilitation with Wearable Inertial Sensors

PubMed Central

Sprint, Gina; Cook, Diane J.; Weeks, Douglas L.; Borisov, Vladimir

2016-01-01

Evaluating patient progress and making discharge decisions regarding inpatient medical rehabilitation rely upon standard clinical assessments administered by trained clinicians. Wearable inertial sensors can offer more objective measures of patient movement and progress. We undertook a study to investigate the contribution of wearable sensor data to predict discharge functional independence measure (FIM) scores for 20 patients at an inpatient rehabilitation facility. The FIM utilizes a 7-point ordinal scale to measure patient independence while performing several activities of daily living, such as walking, grooming, and bathing. Wearable inertial sensor data were collected from ecological ambulatory tasks at two time points mid-stay during inpatient rehabilitation. Machine learning algorithms were trained with sensor-derived features and clinical information obtained from medical records at admission to the inpatient facility. While models trained only with clinical features predicted discharge scores well, we were able to achieve an even higher level of prediction accuracy when also including the wearable sensor-derived features. Correlations as high as 0.97 for leave-one-out cross validation predicting discharge FIM motor scores are reported. PMID:27054054

Recurrent intraoral HSV-1 infection: A retrospective study of 58 immunocompetent patients from Eastern Europe.

PubMed

Tovaru, Serban; Parlatescu, Ioanina; Tovaru, Mihaela; Cionca, Lucia; Arduino, Paolo-Giacomo

2011-03-01

To revise the clinical features of the recurrent intraoral herpetic infection (RIOH) with respect to precipitating factors, demographic, clinical features and outcome. Fifty-eight, unrelated Caucasian, immunocompetent patients with positive laboratory test for intraoral Herpes simplex virus infection were studied. The mean age in the women's group (n=42) was 41.23 years (± 21.73) and in the men's group was 32.25 years (±15.68). Possible trigger factors were identified in 9 cases (15.5%). General symptoms were noted in 20 cases (34.48%). Most of patients in this study presented multiple lesions. 14 patients had vermillion lesions associated with intraoral lesions. In most of the cases both fixed and mobile mucosa was concomitantly involved. Treatment was prescribed in order to control the symptoms and to shorten the evolution with minimal side effects. Intraoral secondary herpetic infection could be polymorphous and sometimes associated with general symptoms. The recognition of its atypical features may prevent unnecessary and costly investigations and treatments for unrelated though clinically similar-appearing disorders.

Neuroimaging features in subacute encephalopathy with seizures in alcoholics (SESA syndrome)

PubMed Central

Drake-Pérez, Marta; de Lucas, Enrique Marco; Lyo, John; Fernández-Torre, José L.

2017-01-01

Purpose To describe the neuroimaging findings in subacute encephalopathy with seizures in alcoholics (SESA syndrome). Methods We reviewed all cases reported previously, as well as 4 patients diagnosed in our center. We included a total of 8 patients. All subjects had clinical and EEG findings compatible with SESA syndrome and at least one MRI study that did not show other underlying condition that could be responsible for the clinical presentation. Results Initial MRI studies revealed the following features: cortical-subcortical areas of increased T2/FLAIR signal and restricted diffusion (6 patients), hyperperfusion (3 patients), atrophy (5 patients), chronic microvascular ischemic changes (4 patients). Follow-up MRI was performed in half of the patients, all showing a resolution of the hyperintense lesions, but developing focal atrophic changes in 75%. Conclusions SESA syndrome should be included among the alcohol-related encephalopathies. Its radiological features include transient cortical-subcortical T2-hyperintense areas with restricted diffusion (overlapping the typical findings in status epilepticus) observed in a patient with atrophy and chronic multifocal vascular lesions. PMID:27391464

[Clinical features and ETFDH mutations of children with late-onset glutaric aciduria type II: a report of two cases].

PubMed

Cheng, Yan-Yang; Tang, Yue; Liu, Ao-Jie; Wei, Li; Lin, Lan; Zhang, Jing; Zhi, Liang

2017-09-01

To investigate the clinical and genetic features of two families with late-onset glutaric aciduria type II caused by ETFDH mutations. Target gene sequence capture and next generation sequencing were used for sequencing of suspected patients and their family members. The patients' clinical features were retrospectively analyzed and literature review was performed. The probands of the two families had a clinical onset at the ages of 10 years and 5.5 years respectively, with the clinical manifestations of muscle weakness and muscle pain. Laboratory examinations revealed significant increases in the serum levels of creatine kinase, creatine kinase-MB, and lactate dehydrogenase. Tandem mass spectrometry showed increases in various types of acylcarnitines. The analysis of urine organic acids showed an increase in glutaric acid. Electromyography showed myogenic damage in both patients. Gene detection showed two novel mutations in the ETFDH gene (c.1331T>C from the mother and c.824C>T from the father) in patient 1, and the patient's younger brother carried the c.1331T>C mutation but had a normal phenotype. In patient 2, there was a novel mutation (c.177insT from the father) and a known mutation (c.1474T>C from the mother) in the ETFDH gene. Several family members carried such mutations. Both patients were diagnosed with glutaric aciduria type II. Their symptoms were improved after high-dose vitamin B2 treatment. For patients with unexplained muscle weakness and pain, serum creatine kinase, acylcarnitines, and urinary organic acids should be measured, and the possibility of glutaric aciduria type II should be considered. Genetic detection is helpful to make a confirmed diagnosis.

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.

PubMed

Hamilton, Eline M C; Tekturk, Pinar; Cialdella, Fia; van Rappard, Diane F; Wolf, Nicole I; Yalcinkaya, Cengiz; Çetinçelik, Ümran; Rajaee, Ahmad; Kariminejad, Ariana; Paprocka, Justyna; Yapici, Zuhal; Bošnjak, Vlatka Mejaški; van der Knaap, Marjo S

2018-04-17

To provide an overview of clinical and MRI characteristics of the different variants of the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) and identify possible differentiating features. We performed an international multi-institutional, cross-sectional observational study of the clinical and MRI characteristics in patients with genetically confirmed MLC. Clinical information was obtained by questionnaires for physicians and retrospective chart review. We included 204 patients with classic MLC, 187 of whom had recessive mutations in MLC1 (MLC1 variant) and 17 in GLIALCAM (MLC2A variant) and 38 patients with remitting MLC caused by dominant GLIALCAM mutations (MLC2B variant). We observed a relatively wide variability in neurologic disability among patients with classic MLC. No clinical differences could be identified between patients with MLC1 and MLC2A. Patients with MLC2B invariably had a milder phenotype with preservation of motor function, while intellectual disability and autism were relatively frequent. Systematic MRI review revealed no MRI features that distinguish between MLC1 and MLC2A. Radiologic improvement was observed in all patients with MLC2B and also in 2 patients with MLC1. In MRIs obtained in the early disease stage, absence of signal abnormalities of the posterior limb of the internal capsule and cerebellar white matter and presence of only rarefied subcortical white matter instead of true subcortical cysts were suggestive of MLC2B. Clinical and MRI features did not distinguish between classic MLC with MLC1 or GLIALCAM mutations. Absence of signal abnormalities of the internal capsule and cerebellar white matter are MRI findings that point to the remitting phenotype. Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

Clinico-biochemical correlation to histological findings in alcoholic liver disease: a single centre study from eastern India.

PubMed

Ray, Sayantan; Khanra, Dibbendhu; Sonthalia, Nikhil; Kundu, Supratip; Biswas, Kaushik; Talukdar, Arunansu; Saha, Manjari; Bera, Himel

2014-10-01

Alcoholism is a health problem not only in developed countries but also in developing countries. Cirrhosis due to alcohol is a common cause of death among individuals abusing alcohol. A better knowledge of the spectrum of alcoholic liver diseases, its clinical, biochemical and histopathological features could result in early detection and prevention of alcoholic liver diseases before it's catastrophic and life threatening effects. A total of 200 patients with alcoholic liver diseases were studied with respect to alcohol consumption, clinical features, biochemical and histopathological changes. The clinical features, biochemical parameters, and histopathology of liver including Ishak's modified histological activity index (HAI) were correlated with the amount and duration of alcohol consumed. Majority of the patients were in the age group of 40-49 years and all the cases were males. Majority consumed alcohol of about 75-90 grams per day for a duration of 10-12 years. Anorexia and jaundice were the most common symptom and clinical finding respectively. Hyperbilirubinemia and hypoalbuminemia were the most common abnormalities observed in liver function tests. Advanced HAI stages with features of cirrhosis were most frequent histo-pathological finding noted in this study. Clinico-biochemical profile was significantly correlated with degree of alcohol ingestion as well as with liver histopathology. The wide prevalence of alcoholic liver disease including cirrhosis among Indian males was noted with significantly lower quantity and duration of alcohol ingestion. The severity of liver damage is directly proportional to the quantity and duration of alcohol consumed. Clinical features and biochemical changes may forecast the liver histopathology among the patients of alcoholic liver disease.

Primary vs. Secondary Antibody Deficiency: Clinical Features and Infection Outcomes of Immunoglobulin Replacement

PubMed Central

Duraisingham, Sai S.; Buckland, Matthew; Dempster, John; Lorenzo, Lorena; Grigoriadou, Sofia; Longhurst, Hilary J.

2014-01-01

Secondary antibody deficiency can occur as a result of haematological malignancies or certain medications, but not much is known about the clinical and immunological features of this group of patients as a whole. Here we describe a cohort of 167 patients with primary or secondary antibody deficiencies on immunoglobulin (Ig)-replacement treatment. The demographics, causes of immunodeficiency, diagnostic delay, clinical and laboratory features, and infection frequency were analysed retrospectively. Chemotherapy for B cell lymphoma and the use of Rituximab, corticosteroids or immunosuppressive medications were the most common causes of secondary antibody deficiency in this cohort. There was no difference in diagnostic delay or bronchiectasis between primary and secondary antibody deficiency patients, and both groups experienced disorders associated with immune dysregulation. Secondary antibody deficiency patients had similar baseline levels of serum IgG, but higher IgM and IgA, and a higher frequency of switched memory B cells than primary antibody deficiency patients. Serious and non-serious infections before and after Ig-replacement were also compared in both groups. Although secondary antibody deficiency patients had more serious infections before initiation of Ig-replacement, treatment resulted in a significant reduction of serious and non-serious infections in both primary and secondary antibody deficiency patients. Patients with secondary antibody deficiency experience similar delays in diagnosis as primary antibody deficiency patients and can also benefit from immunoglobulin-replacement treatment. PMID:24971644

Celiac Disease and Other Causes of Duodenitis.

PubMed

Owen, Daniel R; Owen, David A

2018-01-01

- Patients who receive an upper gastrointestinal endoscopic examination frequently have biopsies taken from the duodenum. Accurate interpretation of duodenal biopsies is essential for patient care. Celiac disease is a common clinical concern, but pathologists need to be aware of other conditions of the duodenum that mimic celiac disease. - To review the normal histologic features of duodenal mucosa and describe the clinical and histologic findings in celiac disease and its mimics, listing the differentiating features of biopsies with villous atrophy and epithelial lymphocytosis. - The study comprises a literature review of pertinent publications as of November 30, 2016. - Celiac disease is a common cause of abnormal duodenal histology. However, many of the histologic features found in the duodenal biopsy of patients with celiac disease are also present in other conditions that affect the small bowel. Diagnostic precision may be enhanced by obtaining a careful patient history and by ancillary laboratory testing, particularly for the presence of antitissue transglutaminase antibodies.

High-altitude cerebral oedema mimicking stroke.

PubMed

Yanamandra, Uday; Gupta, Amul; Patyal, Sagarika; Varma, Prem Prakash

2014-03-26

High-altitude cerebral oedema (HACO) is the most fatal high-altitude illness seen by rural physicians practising in high-altitude areas. HACO presents clinically with cerebellar ataxia, features of raised intracranial pressure (ICP) and coma. Early identification is important as delay in diagnosis can be fatal. We present two cases of HACO presenting with focal deficits mimicking stroke. The first patient presented with left-sided hemiplegia associated with the rapid deterioration in the sensorium. Neuroimaging revealed features suggestive of vasogenic oedema. The second patient presented with monoplegia of the lower limb. Neuroimaging revealed perfusion deficit in anterior cerebral artery territory. Both patients were managed with dexamethasone and they improved dramatically. Clinical picture and neuroimaging closely resembled acute ischaemic stroke in both cases. Thrombolysis in these patients would have been disastrous. Recent travel to high altitude, young age, absence of atherosclerotic risk factors and features of raised ICP concomitantly directed the diagnosis to HACO.

Cytomorphological Spectrum of Thyroiditis: A Review of 110 Cases

PubMed Central

Nair, Rahul; Gambhir, Anushree; Kaur, Supreet; Pandey, Aditi; Shetty, Abhinav; Naragude, Piyusha

2018-01-01

Introduction Different types of thyroiditis may share some parallel clinical and biochemical features. Timely intervention can significantly reduce morbidity and mortality. Aim Aim of this study is to find the frequency of various thyroiditis, study the cytomorphological features and correlate with clinical findings including radiological findings, thyroid function test, and anti-thyroid peroxidase antibodies (Anti-TPO antibodies). Materials and Methods The study included consecutive 110 cases of thyroiditis. Detailed cytomorphological features were studied and correlated with ultrasonography findings, thyroid function test, anti-thyroid peroxidase antibodies (anti-TPO) and histopathological features where thyroidectomy specimens were received for histopathological examination. Results The majority were Hashimoto's thyroiditis (n = 100) and females (n = 103). Other forms of thyroiditis were Hashimoto's thyroiditis with colloid goiter (n = 5), De Quervain's thyroiditis (n = 3), and one case each of postpartum thyroiditis and Hashimoto's thyroiditis with associated malignancy. The majority of patients were in the age group of 21–40 (n = 70) and the majority (n = 73) had diffuse enlargement of thyroid. The majority of patients were hypothyroid (n = 52). The serum anti-TPO antibodies were elevated in 47 patients out of 71 patients. In the 48 patients who underwent ultrasonography, 38 were diagnosed as having thyroiditis. The most consistent cytomorphological features seen in fine-needle aspiration smears of Hashimoto's thyroiditis were increased background lymphocytes, lymphocytic infiltration of thyroid follicular cell clusters, and Hurthle cells. Conclusion The diagnostic cytological features in Hashimoto's thyroiditis are increased background lymphocytes, lymphocytic infiltration of thyroid follicular cell clusters, and Hurthle cells. FNAC remains the “Gold Standard” for diagnosing Hashimoto's thyroiditis. Clinical history, thyroid function, and biochemical parameters are the key for diagnosis of other forms of thyroiditis. PMID:29686830

Clinical features and laboratory findings of dengue fever in German travellers: A single-centre, retrospective analysis.

PubMed

Tavakolipoor, Pulad; Schmidt-Chanasit, Jonas; Burchard, Gerd Dieter; Jordan, Sabine

2016-01-01

Dengue fever (DF) is one of the most relevant human arboviral infections worldwide and has become a frequent cause of fever in the returning traveller. This retrospective study aimed to characterize epidemiological and clinical features and laboratory findings of dengue fever in German travellers. This descriptive study analyzed medical records of patients diagnosed with DF presenting at the Section of Tropical Medicine of the University Medical Centre Hamburg-Eppendorf from 2007 to 2011. Data were collected and analyzed retrospectively. In total, data of 119 DF patients (52 female, 67 male) were included in this study. The median age of the patients was 35 (range 15-75 years). DF was most frequently acquired in South-East Asia (n = 65; 54.7%), and in particular in Thailand (n = 23; 19.7%). A considerable percentage of DF infections (n = 14; 11.8%) was imported from Africa. Patients predominantly presented with fever, headache, rash, myalgia and arthralgia but also with gastrointestinal symptoms, i.e. diarrhoea. Nine patients showed signs of minor haemorrhagic manifestations. Neurological complications occurred in 13 patients. Low platelet count, leukopenia and elevated liver enzymes were the most relevant laboratory findings. Twenty patients (17.8%) had to be hospitalized. Overall, the clinical course was mostly mild to moderate, 13 patients (10.9%) showed DF warnings signs, no fatalities occurred. DF presented as a mostly mild to moderate disease in this study cohort. Outpatient treatment was adequate for the majority of patients. Still, detailed knowledge of clinical symptoms and laboratory features is essential for appropriate triage. Copyright © 2016 Elsevier Ltd. All rights reserved.

Disaccharidase Deficiencies in Children With Chronic Abdominal Pain.

PubMed

El-Chammas, Khalil; Williams, Sara E; Miranda, Adrian

2017-03-01

Carbohydrate intolerance or malabsorption has been suggested as a cause of chronic abdominal pain (CAP) in a subset of patients. We aimed to evaluate disaccharidase deficiencies in children with functional CAP and to correlate deficiencies with clinical features. Patients presenting to the gastroenterology clinic at Children's Hospital of Wisconsin with abdominal pain prospectively completed a detailed demographic, history, and symptom questionnaire. The CAP cohort included those with at least 1 month of symptoms. Data on disaccharidase activity and histology of endoscopic biopsies were collected retrospectively. Only patients with normal histology were included in the study. The association between groups with low disaccharidases and clinical features was examined. A total of 203 pediatric patients with CAP were included. The mean (SD) age was 11.5 (3.1) years, and 32.5% were male. The percentages of abnormally low disaccharidase levels using the standard laboratory cutoffs were lactase, 37%; sucrase, 21%; glucoamylase, 25%; and palatinase, 8%. Thirty-nine percent of the patients with low lactase also had low sucrase, and 67% of the patients with low sucrase had low lactase. There was no significant difference in the activities of any of the disaccharidases or sucrase/lactase ratio in relation to age. Also, no association was found between stool consistency, stool frequency, or location of pain and low disaccharidase activity. A large proportion of patients with CAP have deficiencies in disaccharidases. Bowel frequency, vomiting, or location of pain was no different between groups, suggesting that these clinical features cannot be used to predict disaccharidase deficiencies.

Novel histopathologic feature identified through image analysis augments stage II colorectal cancer clinical reporting

PubMed Central

Caie, Peter D.; Zhou, Ying; Turnbull, Arran K.; Oniscu, Anca; Harrison, David J.

2016-01-01

A number of candidate histopathologic factors show promise in identifying stage II colorectal cancer (CRC) patients at a high risk of disease-specific death, however they can suffer from low reproducibility and none have replaced classical pathologic staging. We developed an image analysis algorithm which standardized the quantification of specific histopathologic features and exported a multi-parametric feature-set captured without bias. The image analysis algorithm was executed across a training set (n = 50) and the resultant big data was distilled through decision tree modelling to identify the most informative parameters to sub-categorize stage II CRC patients. The most significant, and novel, parameter identified was the ‘sum area of poorly differentiated clusters’ (AreaPDC). This feature was validated across a second cohort of stage II CRC patients (n = 134) (HR = 4; 95% CI, 1.5– 11). Finally, the AreaPDC was integrated with the significant features within the clinical pathology report, pT stage and differentiation, into a novel prognostic index (HR = 7.5; 95% CI, 3–18.5) which improved upon current clinical staging (HR = 4.26; 95% CI, 1.7– 10.3). The identification of poorly differentiated clusters as being highly significant in disease progression presents evidence to suggest that these features could be the source of novel targets to decrease the risk of disease specific death. PMID:27322148

Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4

PubMed Central

Alsahli, Saud; Alrifai, Muhammad Talal; Al Tala, Saeed; Mutairi, Fuad Al; Alfadhel, Majid

2018-01-01

Background: Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) is a heterogeneous group of genetic disorders that have been grouped by shared clinical features; all of these features are transmitted via an autosomal recessive mechanism. Four variants of this syndrome have been identified so far, and each one differs in terms of both clinical and genotypical features. CAMRQ4 is a rare genetic disorder characterized by mental retardation, ataxia or an inability to walk, dysarthria and, in some patients, quadrupedal gait. Methods: We investigated three Saudi families with CAMRQ4. Blood samples were collected from the affected patients, their parents, and healthy siblings. DNA was extracted from whole blood, and whole-exome sequencing was performed. Findings were confirmed by segregation analysis, which was performed on other family members. Results: Thus far, 17 patients have been affected by CAMRQ4. Genetic analysis of all patients, including our current patients, showed a mutation in the aminophospholipid transporter, class I, type 8A, member 2 gene (ATP8A2). A series of common phenotypical features have been reported in these patients, with few exceptions. Ataxia, mental retardation, and hypotonia were present in all patients, consanguinity in 90% and abnormal movements in 50%. Moreover, 40% achieved ambulation at least once in their lifetime, 40% had microcephaly, whereas 30% were mute. Magnetic resonance imaging (MRI) of the brain was normal in 60% of patients. Conclusions: We described the largest cohort of patients with CAMRQ4 syndrome and identified three novel mutations. CAMRQ4 syndrome should be suspected in patients presenting with ataxia, intellectual disability, hypotonia, microcephaly, choreoathetoid movements, ophthalmoplegia, and global developmental delay, even if brain MRI appears normal. PMID:29531481

Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

PubMed

Alsahli, Saud; Alrifai, Muhammad Talal; Al Tala, Saeed; Mutairi, Fuad Al; Alfadhel, Majid

2018-01-01

Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) is a heterogeneous group of genetic disorders that have been grouped by shared clinical features; all of these features are transmitted via an autosomal recessive mechanism. Four variants of this syndrome have been identified so far, and each one differs in terms of both clinical and genotypical features. CAMRQ4 is a rare genetic disorder characterized by mental retardation, ataxia or an inability to walk, dysarthria and, in some patients, quadrupedal gait. We investigated three Saudi families with CAMRQ4. Blood samples were collected from the affected patients, their parents, and healthy siblings. DNA was extracted from whole blood, and whole-exome sequencing was performed. Findings were confirmed by segregation analysis, which was performed on other family members. Thus far, 17 patients have been affected by CAMRQ4. Genetic analysis of all patients, including our current patients, showed a mutation in the aminophospholipid transporter, class I, type 8A, member 2 gene ( ATP8A2 ). A series of common phenotypical features have been reported in these patients, with few exceptions. Ataxia, mental retardation, and hypotonia were present in all patients, consanguinity in 90% and abnormal movements in 50%. Moreover, 40% achieved ambulation at least once in their lifetime, 40% had microcephaly, whereas 30% were mute. Magnetic resonance imaging (MRI) of the brain was normal in 60% of patients. We described the largest cohort of patients with CAMRQ4 syndrome and identified three novel mutations. CAMRQ4 syndrome should be suspected in patients presenting with ataxia, intellectual disability, hypotonia, microcephaly, choreoathetoid movements, ophthalmoplegia, and global developmental delay, even if brain MRI appears normal.

[Report of a case with Joubert syndrome and literature review].

PubMed

Yi, Ya-hui; Li, Gang; Lu, Zhong-lie; Zhou, Jian-sheng; Yao, Zhen-wei; Wang, Peng-fei; Yao, Jin-xiang

2011-12-01

To explore the clinical feature, imaging and their diagnostic value for Joubert syndrome (JS). The clinical data, imaging feature, and 31 references from China Biomedical literature database (CBMdise) were reviewed and analyzed. The age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years (mean 2.2 years). All the 32 patients with Joubert syndrome showed "slow growth" and "reduced muscle tension", 26 cases (81.3%) showed "gasp for breath", 26 cases (81.3%) showed "unusual motion of eyeball", 2 cases (6.3%) showed additional fingers (toes), 6 cases (18.8%) showed stretching tongue with agape. The typical imaging features of Joubert syndrome included "molar tooth sign", "midline cleavage" between cerebellar hemispheres and "bat-wing" like fourth ventricle, all the 32 patients with Joubert syndrome showed "midline cleavage", "molar tooth sign" was present in 29 cases (90.1%), and "bat-wing" like fourth ventricle in 30 cases (93.8%). Joubert syndrome is a rare congenital brain malformation. The typical clinical manifestations included "gasp for breath", "reduced tension of muscle", "slow growth" and "unusual motion of eyeball", and at the same time the patients had the following typical imaging features of brain: "molar tooth sign", "midline cleavage" and "bat-wing" like fourth ventricle.

Clinical features of autoimmune hepatitis with acute presentation: a Japanese nationwide survey.

PubMed

Joshita, Satoru; Yoshizawa, Kaname; Umemura, Takeji; Ohira, Hiromasa; Takahashi, Atsushi; Harada, Kenichi; Hiep, Nguyen Canh; Tsuneyama, Koichi; Kage, Masayoshi; Nakano, Masayuki; Kang, Jong-Hon; Koike, Kazuhiko; Zeniya, Mikio; Yasunaka, Tetsuya; Takaki, Akinobu; Torimura, Takuji; Abe, Masanori; Yokosuka, Osamu; Tanaka, Atsushi; Takikawa, Hajime

2018-02-23

Autoimmune hepatitis (AIH) is characterized by progressive inflammation and necrosis of hepatocytes and eventually leads to a variety of phenotypes, including acute liver dysfunction, chronic progressive liver disease, and fulminant hepatic failure. Although the precise mechanisms of AIH are unknown, environmental factors may trigger disease onset in genetically predisposed individuals. Patients with the recently established entity of AIH with acute presentation often display atypical clinical features that mimic those of acute hepatitis forms even though AIH is categorized as a chronic liver disease. The aim of this study was to identify the precise clinical features of AIH with acute presentation. Eighty-six AIH patients with acute presentation were retrospectively enrolled from facilities across Japan and analyzed for clinical features, histopathological findings, and disease outcomes. Seventy-five patients were female and 11 were male. Patient age ranged from adolescent to over 80 years old, with a median age of 55 years. Median alanine transaminase (ALT) was 776 U/L and median immunoglobulin G (IgG) was 1671 mg/dL. There were no significant differences between genders in terms of ALT (P = 0.27) or IgG (P = 0.51). The number of patients without and with histopathological fibrosis was 29 and 57, respectively. The patients with fibrosis were significantly older than those without (P = 0.015), but no other differences in clinical or histopathological findings were observed. Moreover, antinuclear antibody (ANA)-positive (defined as × 40, N = 63) and -negative (N = 23) patients showed no significant differences in clinical or histopathological findings or disease outcomes. Twenty-five patients experienced disease relapse and two patients died during the study period. ALP ≥ 500 U/L [odds ratio (OR) 3.20; 95% confidence interval (CI) 1.12-9.10; P < 0.030] and GGT ≥ 200 U/L (OR 2.98; 95% CI 1.01-8.77; P = 0.047) were identified as independent risk factors of disease relapse. AIH with acute presentation is a newly recognized disease entity for which diagnostic hallmarks, such as ALT, fibrosis, and ANA, are needed. Further investigation is also required on the mechanisms of this disorder. Clinicians should be mindful of disease relapse during patient care.

Uveitis profile and treatment response in Iranian patients with sarcoidosis.

PubMed

Mahmoudzadeh, Pouya; Tousi, Adib; Ramezani, Alireza; Soheilian, Roham; Soheilian, Masoud

2015-06-01

The aim of the study was to assess the clinical features and treatment responses in Iranian patients with sarcoid uveitis. A retrospective review of patients diagnosed with sarcoid uveitis from 1996 to 2010 was performed in a referral clinic in Tehran, Iran. Demographic and clinical features of patients, treatment modalities and therapeutic responses, and outcomes were recorded. Sixty-six eyes from 36 patients were studied. Twenty cases had biopsy-proven sarcoidosis. Mean duration of follow-up was 44.7 ± 45 months (range 3-175). Thirty-six eyes (54.5 %) had intermediate uveitis, 25 (37.9 %) panuveitis, and 5 (7.6 %) anterior uveitis. Twenty patients (55.5 %) responded to both systemic and/or topical corticosteroids, and 16 (44.4 %) required immunomodulatory drugs for control of uveitis. All of the patients finally responded to treatment in the form of inflammation reduction and/or vision improvement. The average time interval before initial clinical response following treatment was 3.2 ± 3 months (range 1-72). This study disclosed a higher predominance of females and intermediate form of uveitis in Iranian patients with sarcoid uveitis. Use of immunomodulatory drugs combined with corticosteroids resulted in good visual outcome and control of uveitis with a possible fewer corticosteroid side effects.

[The endoscopic and clinical features of Indigo Naturalis-associated ischemic lesions of colonic mucosa].

PubMed

Suo, Bao-jun; Zhou, Li-ya; Ding, Shi-gang; Lü, Yu-min; Gu, Fang; Lin, San-ren; Zheng, Ya-an

2011-08-01

By analysing the clinical features of Indigo Naturalis-associated ischemic lesion of colon mucosa to improve the precautionary and therapeutic level of the disease. Thirteen patients diagnosed as Indigo Naturalis-associated ischemic lesion of colon mucosa in Peking University Third Hospital from 2005 to 2010 were reviewed. The endoscopic and clinical features were analysed. The 13 patients with an average age of (60.6 ± 14.1) years old were prescribed Chinese traditional medicine containing Indigo Naturalis for psoriasis or idiopathic thrombocytopenic purpura (ITP). The ratio of males to females was 1:1.6. The typical manifestations were abdominal pain and bloody stool with watering diarrhea before bloody stool in 61.5% patients. Endoscopic and pathological characteristics were coincident with ischemic lesion and more like a chronic index. Vasodilatic medicine was effective and the average hemostatic time was (1.7 ± 0.8) days. The prognosis was well and no recurrence was found during 3 months follow-up. Patients having psoriasis or ITP treated with Chinese traditional medicine containing Indigo Naturalis have an inclination to colon mucosa lesions, even ischemic lesion. Careful assessment and observation before prescribing are necessary in these patients.

The prognostic impact of clinical and CT parameters in patients with pontine hemorrhage.

PubMed

Dziewas, Rainer; Kremer, Marion; Lüdemann, Peter; Nabavi, Darius G; Dräger, Bianca; Ringelstein, Bernd

2003-01-01

In patients with pontine hemorrhage (PH), an accurate prognostic assessment is critical for establishing a reasonable therapeutic approach. The initial clinical symptoms and computed tomography (CT) features were analyzed with multivariate regression analysis in 39 consecutive patients with PH. PHs were classified into three types: (1) large paramedian, (2) basal or basotegmental and (3) lateral tegmental, and the hematomas' diameters were measured. The patients' outcome was evaluated. Twenty-seven patients (69%) died and 12 (31%) survived for more than 1 year after PH. The symptom most predictive of death was coma on admission. The large paramedian type of PH predicted a poor prognosis, whereas the lateral tegmental type was associated with a favorable outcome. The transverse hematoma diameter was also related to outcome, with the threshold value found to be 20 mm. We conclude that PH outcome can be estimated best by combining the CT parameters 'large paramedian PH' and 'transverse diameter >/=20 mm' with the clinical variable 'coma on admission'. Survival is unlikely if all 3 features are present, whereas survival may be expected if only 1 or none of these features is found. Copyright 2003 S. Karger AG, Basel

Clinical and radiological features of invasive Klebsiella pneumoniae liver abscess syndrome.

PubMed

Shin, Sung Ui; Park, Chang Min; Lee, Youkyung; Kim, Eui-Chong; Kim, Soo Jin; Goo, Jin Mo

2013-06-01

Recently, a striking new clinical manifestation of Klebsiella pneumoniae (KP) infection referred to as invasive KP liver abscess syndrome (IKPLAS), defined by liver abscess with contemporaneous metastatic KP infections at other body sites has been documented. Until now, however, there have been relatively few reports regarding its radiologic features. To describe the clinical and radiological features of IKPLAS patients, and to compare them with those with KP liver abscess without metastatic infections to ascertain possible predictors of IKPLAS. From January 2008 to May 2010, 35 patients (26 men and 9 women; mean age, 59.4 years) with both liver abscess and metastatic KP infections were diagnosed with IKPLAS. Their clinical and radiological features were retrospectively evaluated and compared with those of 25 contemporaneous non-metastatic patients to investigate predictive factors for metastatic infections. The rate of intensive care unit admissions and overall mortality was 34.3% and 17.1% in IKPLAS patients, and was significantly higher than those of the non-metastatic group (8% and 0%, respectively). As for metastatic infections, the lung was the most common site and multiple nodules or masses (n = 9) were the most common manifestations. Univariate analysis revealed that liver abscess ≤5.8 cm, bilobar involvement of abscess and altered mentality were significantly related with IKPLAS. At multivariate analysis, liver abscess ≤5.8 cm was proven to be a significant independent predictor of IKPLAS (OR, 3.6; P = 0.038). In addition, altered mentality was present solely in IKPLAS (25.7% vs. 0%) although its P value (P = 0.052) did not reach a statistical significance at multivariate analysis. IKPLAS has significantly worse prognosis than non-metastatic KP abscess patients. In patients with KP liver abscess, liver abscess ≤5.8 cm can be used as an independent predictor of IKPLAS and altered mentality as a very specific feature in diagnosing IKPLAS. © 2013 The Foundation Acta Radiologica.

Computer aided analysis of gait patterns in patients with acute anterior cruciate ligament injury.

PubMed

Christian, Josef; Kröll, Josef; Strutzenberger, Gerda; Alexander, Nathalie; Ofner, Michael; Schwameder, Hermann

2016-03-01

Gait analysis is a useful tool to evaluate the functional status of patients with anterior cruciate ligament injury. Pattern recognition methods can be used to automatically assess walking patterns and objectively support clinical decisions. This study aimed to test a pattern recognition system for analyzing kinematic gait patterns of recently anterior cruciate ligament injured patients and for evaluating the effects of a therapeutic treatment. Gait kinematics of seven male patients with an acute unilateral anterior cruciate ligament rupture and seven healthy males were recorded. A support vector machine was trained to distinguish the groups. Principal component analysis and recursive feature elimination were used to extract features from 3D marker trajectories. A Classifier Oriented Gait Score was defined as a measure of gait quality. Visualizations were used to allow functional interpretations of characteristic group differences. The injured group was evaluated by the system after a therapeutic treatment. The results were compared against a clinical rating of the patients' gait. Cross validation yielded 100% accuracy. After the treatment the score improved significantly (P<0.01) as well as the clinical rating (P<0.05). The visualizations revealed characteristic kinematic features, which differentiated between the groups. The results show that gait alterations in the early phase after anterior cruciate ligament injury can be detected automatically. The results of the automatic analysis are comparable with the clinical rating and support the validity of the system. The visualizations allow interpretations on discriminatory features and can facilitate the integration of the results into the diagnostic process. Copyright © 2016 Elsevier Ltd. All rights reserved.

Pulmonary Mycobacterium kansasii infection: comparison of the clinical features, treatment and outcome with pulmonary tuberculosis.

PubMed Central

Evans, S. A.; Colville, A.; Evans, A. J.; Crisp, A. J.; Johnston, I. D.

1996-01-01

BACKGROUND: In the United Kingdom Mycobacterium kansasii is the most common pulmonary non-tuberculous mycobacteria to cause disease in the non-HIV positive population. METHODS: The clinical features, treatment, and outcome of 47 patients (13 women) of mean (SD) age 58 (17) years with culture positive pulmonary M kansasii infection were compared with those of 87 patients (23 women) of mean (SD) age 57 (16) years with culture positive pulmonary M tuberculosis infection by review of their clinical and laboratory records. Each patient with M kansasii infection was matched for age, sex, race and, where possible, year of diagnosis with two patients with M tuberculosis infection. RESULTS: All those with M kansasii infection were of white race. Haemoptysis was more common in patients infected with M kansasii but they were less likely to present as a result of an incidental chest radiograph or symptoms other than those due to mycobacterial infection. Patients with M kansasii were also less likely to have a history of diabetes, but the frequency of previous chest disease and tuberculosis was similar. An alcohol intake of > 14 units/week was less frequent in those with M kansasii, but there were no significant differences in drug history, past and present smoking habit, occupational exposures, social class, or marital status. Patients with M kansasii received a longer total course of antimycobacterial therapy and, in particular, extended treatment with ethambutol and rifampicin was given. There was no significant difference in outcome between pulmonary M kansasii or M tuberculosis infection. CONCLUSIONS: There are group differences between the clinical features of the two infections but, with the possible exception of diabetes and alcohol intake, these features are unlikely to be diagnostically helpful. Treatment of M kansasii infection with ethambutol, isoniazid, and rifampicin in these patients was as effective as standard regimens given to patients infected with M tuberculosis. PMID:8994524

Features of computerized clinical decision support systems supportive of nursing practice: a literature review.

PubMed

Lee, Seonah

2013-10-01

This study aimed to organize the system features of decision support technologies targeted at nursing practice into assessment, problem identification, care plans, implementation, and outcome evaluation. It also aimed to identify the range of the five stage-related sequential decision supports that computerized clinical decision support systems provided. MEDLINE, CINAHL, and EMBASE were searched. A total of 27 studies were reviewed. The system features collected represented the characteristics of each category from patient assessment to outcome evaluation. Several features were common across the reviewed systems. For the sequential decision support, all of the reviewed systems provided decision support in sequence for patient assessment and care plans. Fewer than half of the systems included problem identification. There were only three systems operating in an implementation stage and four systems in outcome evaluation. Consequently, the key steps for sequential decision support functions were initial patient assessment, problem identification, care plan, and outcome evaluation. Providing decision support in such a full scope will effectively help nurses' clinical decision making. By organizing the system features, a comprehensive picture of nursing practice-oriented computerized decision support systems was obtained; however, the development of a guideline for better systems should go beyond the scope of a literature review.

Assessment of Correlation between Sweat Chloride Levels and Clinical Features of Cystic Fibrosis Patients.

PubMed

Raina, Manzoor A; Khan, Mosin S; Malik, Showkat A; Raina, Ab Hameed; Makhdoomi, Mudassir J; Bhat, Javed I; Mudassar, Syed

2016-12-01

Cystic Fibrosis (CF) is an autosomal recessive disorder and the incidence of this disease is undermined in Northern India. The distinguishable salty character of the sweat belonging to individuals suffering from CF makes sweat chloride estimation essential for diagnosis of CF disease. The aim of this prospective study was to elucidate the relationship of sweat chloride levels with clinical features and pattern of CF. A total of 182 patients, with clinical features of CF were included in this study for quantitative measurement of sweat chloride. Sweat stimulation and collection involved pilocarpine iontophoresis based on the Gibson and Cooks methodology. The quantitative estimation of chloride was done by Schales and Schales method with some modifications. Cystic Fibrosis Trans Membrane Conductance Regulator (CFTR) mutation status was recorded in case of patients with borderline sweat chloride levels to correlate the results and for follow-up. Out of 182 patients having clinical features consistent with CF, borderline and elevated sweat chloride levels were present in 9 (5%) and 41 (22.5%) subjects respectively. Elevated sweat chloride levels were significantly associated with wheeze, Failure To Thrive (FTT), history of CF in Siblings, product of Consanguineous Marriage (CM), digital clubbing and steatorrhoea on univariate analysis. On multivariate analysis only wheeze, FTT and steatorrhoea were found to be significantly associated with elevated sweat chloride levels (p<0.05). Among the nine borderline cases six cases were positive for at least two CFTR mutations and rest of the three cases were not having any mutation in CFTR gene. The diagnosis is often delayed and the disease is advanced in most patients at the time of diagnosis. Sweat testing is a gold standard for diagnosis of CF patients as genetic mutation profile being heterozygous and unlikely to become diagnostic test.

Frequency and clinical features of patients who attempted suicide by Hara-Kiri in Japan.

PubMed

Kato, Koji; Kimoto, Keitaro; Kimoto, Kousuke; Takahashi, Yuki; Sato, Reiko; Matsumoto, Hideo

2014-09-01

Hara-kiri is a unique Japanese custom, primarily stemming from the manners and customs that a samurai held. The aim of the present study was to investigate the clinical features of individuals who attempted suicide by hara-kiri. We enrolled 647 patients who had attempted suicide. Clinical features were compared between those who had employed hara-kiri and those who had used other methods. 25 of the 647 subjects had attempted suicide by hara-kiri. The ratio of men to women and the proportion of patients with mood disorders were significantly higher in the hara-kiri group than in the other methods group. The average length of stay in either the hospital or in the intensive care unit was also longer in the hara-kiri group than in the other methods group. Hara-kiri is an original Japanese method of attempting suicide, and suicide attempts by hara-kiri may be aimed at maintaining a reputation or taking responsibility. © 2014 American Academy of Forensic Sciences.

Clinical state assessment in bipolar patients by means of HRV features obtained with a sensorized T-shirt.

PubMed

Mariani, Sara; Migliorini, Matteo; Tacchino, Giulia; Gentili, Claudio; Bertschy, Gilles; Werner, Sandra; Bianchi, Anna M

2012-01-01

The aim of this study is to identify parameters extracted from the Heart Rate Variability (HRV) signal that correlate to the clinical state in patients affected by bipolar disorder. 25 ECG and activity recordings from 12 patients were obtained by means of a sensorized T-shirt and the clinical state of the subjects was assessed by a psychiatrist. Features in the time and frequency domain were extracted from each signal. HRV features were also used to automatically compute the sleep profile of each subject by means of an Artificial Neural Network, trained on a control group of healthy subjects. From the hypnograms, sleep-specific parameters were computed. All the parameters were compared with those computed on the control group, in order to highlight significant differences in their values during different stages of the pathology. The analysis was performed by grouping the subjects first on the basis of the depression-mania level and then on the basis of the anxiety level.

Diagnostic criteria for chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS).

PubMed

Tobin, W Oliver; Guo, Yong; Krecke, Karl N; Parisi, Joseph E; Lucchinetti, Claudia F; Pittock, Sean J; Mandrekar, Jay; Dubey, Divyanshu; Debruyne, Jan; Keegan, B Mark

2017-09-01

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a central nervous system inflammatory syndrome predominantly affecting the brainstem, cerebellum, and spinal cord. Following its initial description, the salient features of CLIPPERS have been confirmed and expanded upon, but the lack of formalized diagnostic criteria has led to reports of patients with dissimilar features purported to have CLIPPERS. We evaluated clinical, radiological and pathological features of patients referred for suspected CLIPPERS and propose diagnostic criteria to discriminate CLIPPERS from non-CLIPPERS aetiologies. Thirty-five patients were evaluated for suspected CLIPPERS. Clinical and neuroimaging data were reviewed by three neurologists to confirm CLIPPERS by consensus agreement. Neuroimaging and neuropathology were reviewed by experienced neuroradiologists and neuropathologists, respectively, both of whom were blinded to the clinical data. CLIPPERS was diagnosed in 23 patients (18 male and five female) and 12 patients had a non-CLIPPERS diagnosis. CLIPPERS patients' median age of onset was 58 years (interquartile range, 24-72) and were followed a median of 44 months (interquartile range 38-63). Non-CLIPPERS patients' median age of onset was 52 years (interquartile range, 39-59) and were followed a median of 27 months (interquartile range, 14-47). Clinical symptoms of gait ataxia, diplopia, cognitive impairment, and facial paraesthesia did not discriminate CLIPPERS from non-CLIPPERS. Marked clinical and radiological corticosteroid responsiveness was observed in CLIPPERS (23/23), and clinical worsening occurred in all 12 CLIPPERS cases when corticosteroids were discontinued. Corticosteroid responsiveness was common but not universal in non-CLIPPERS [clinical improvement (8/12); radiological improvement (2/12); clinical worsening on discontinuation (3/8)]. CLIPPERS patients had brainstem predominant perivascular gadolinium enhancing lesions on magnetic resonance imaging that were discriminated from non-CLIPPERS by: homogenous gadolinium enhancing nodules <3 mm in diameter without ring-enhancement or mass effect, and homogenous T2 signal abnormality not significantly exceeding the T1 enhancement. Brain neuropathology on 14 CLIPPERS cases demonstrated marked CD3-positive T-lymphocyte, mild B-lymphocyte and moderate macrophage infiltrates, with perivascular predominance as well as diffuse parenchymal infiltration (14/14), present in meninges, white and grey matter, associated with variable tissue destruction, astrogliosis and secondary myelin loss. Clinical, radiological and pathological feature define CLIPPERS syndrome and are differentiated from non-CLIPPERS aetiologies by neuroradiological and neuropathological findings. © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Clinical course of asthma patients with H1N1 influenza infection and oseltamivir.

PubMed

Kim, Min-Hye; Song, Woo-Jung; Yang, Min-Suk; Lee, So-Hee; Kwon, Jae-Woo; Kim, Sae-Hoon; Kang, Hye-Ryun; Park, Heung-Woo; Cho, Young-Joo; Cho, Sang-Heon; Min, Kyung-Up; Kim, You-Young; Chang, Yoon-Seok

2018-02-01

H1N1 influenza virus prevailed throughout the world in 2009. However, there are few reports on the clinical features of H1N1 influenza infection in adult asthma patients. We evaluated the clinical features in asthma patients with H1N1 influenza infection who took oseltamivir and compared them to those with other upper respiratory infections. We reviewed asthma patients over 15 years of age who had visited Seoul National University Hospital and Seoul National University Bundang Hospital for suspected H1N1 influenza infection from August 2009 to March 2010. Various clinical features such as hospital admission days, respiratory symptoms, basal lung function, and past history was compared between H1N1 influenza PCR positive and negative groups. A total of 111 asthmatics were enrolled. All patients took oseltamivir. H1N1 RT-PCR was positive in 62 patients (55.9%), negative in 49 patients (44.1%). Wheezing developed more frequently in the H1N1 positive group. (43.5 vs. 16.7%, P=0.044). The rate of acute asthma exacerbations and pneumonia development were higher in the H1N1 positive group (59.7 vs. 51%, P=0.015, 25.0% vs. 0%, P<0.001). The rates for emergency room visit, hospital admissions, intensive care unit admissions, hospital days were not different between the groups. Underlying medical conditions were accompanied more frequently in the H1N1 negative patients (21.6% vs. 30.6%, P=0.002), especially cardiac disease (7.2% vs. 15.3%, P=0.011). H1N1 influenza infection may affect the clinical course of asthma combined with more severe manifestations; however, Oseltamivir could have affected the clinical course of H1N1 infected patients and made it milder than expected.

Oral Rehabilitation of an Osteopetrosis Patient with Osteomyelitis

PubMed Central

Celakil, Tamer; Dogan, Merve; Rohlig, Bilge Gokcen; Evlioglu, Gulumser; Keskin, Haluk

2016-01-01

Osteopetrosis is a congenital disorder characterized by increasing osteoclastic function resulting in osteomyelitis in the jaws. Orofacial findings in osteopetrosis patients are unerupted, malformed, or delayed teeth and many dental caries due to vulnerable enamel and dentin and osteomyelitis. Many reports have described that maxilla is an uncommon site of occurrence for osteomyelitis due to cortical bone morphology and collateral circulation. This report aims to discuss clinical features and prosthodontic management of a patient with clinical features of adult form of osteopetrosis and osteomyelitis in both jaws. The patient has reported better masticatory and speech efficiency with removable dentures in maxillary and mandibular jaw and also self-esteem improvement and family interaction. PMID:27148461

Oral Rehabilitation of an Osteopetrosis Patient with Osteomyelitis.

PubMed

Celakil, Tamer; Dogan, Merve; Rohlig, Bilge Gokcen; Evlioglu, Gulumser; Keskin, Haluk

2016-01-01

Osteopetrosis is a congenital disorder characterized by increasing osteoclastic function resulting in osteomyelitis in the jaws. Orofacial findings in osteopetrosis patients are unerupted, malformed, or delayed teeth and many dental caries due to vulnerable enamel and dentin and osteomyelitis. Many reports have described that maxilla is an uncommon site of occurrence for osteomyelitis due to cortical bone morphology and collateral circulation. This report aims to discuss clinical features and prosthodontic management of a patient with clinical features of adult form of osteopetrosis and osteomyelitis in both jaws. The patient has reported better masticatory and speech efficiency with removable dentures in maxillary and mandibular jaw and also self-esteem improvement and family interaction.

Clinical and epidemiological features of leishmaniasis in northwestern-Argentina through a retrospective analysis of recent cases.

PubMed

García Bustos, María F; González-Prieto, Gabriela; Ramos, Federico; Mora, María C; Hashiguchi, Yoshihisa; Parodi, Cecilia; Basombrío, Miguel A; Moreno, Sonia; Monroig, Sibila; Beckar, Josefina; Jaime, Daniela; Sajama, Jesús; Yeo, Matthew; Marco, Jorge D; Locatelli, Fabricio M; Barrio, Alejandra

2016-02-01

Leishmaniasis is a parasitic disease caused by hemoflagellates of the genus Leishmania and is transmitted to humans by the bite of infected phlebotomine sandflies. Depending on the Leishmania species, the disease has different clinical forms including cutaneous, mucocutaneous, and visceral manifestations. Previous studies performed in endemic zones of northwestern-Argentina, during epidemic outbreaks, have been important for detecting patients suffering from the acute phase of the disease, but have not given a complete representation of the clinical and epidemiological features in the region. Furthermore, due to the resurgence of leishmaniasis worldwide and in particular the large increase of international tourism to the region, it seems pertinent to update the current epidemiological and clinical profile of leishmaniasis in northwestern-Argentina. Here we present a retrospective analysis of 95 Leishmania positive cases, presenting between 2000 and 2014. Patients were derived from hospitals and diagnosed in our lab at the University of Salta, located in a non-endemic area in Salta, Argentina. We detected numerous extensive mucocutaneous cases (34/95, 35.8%) distinct from mucosal affected patients, some instances originating in locations with no previously reported human cases. Additionally patients suffering from concomitant diseases, besides leishmaniasis, were assessed. These included Chagas disease, syphilis, deep mycoses, tuberculosis, toxoplasmosis and intestinal parasitosis. This study updates the clinical and epidemiological features of leishmaniasis in northwestern-Argentina, and discusses the implications and management strategy for patients who acquire the disease in this region. Copyright © 2015 Elsevier B.V. All rights reserved.

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.

PubMed

Coulter, Tanya I; Chandra, Anita; Bacon, Chris M; Babar, Judith; Curtis, James; Screaton, Nick; Goodlad, John R; Farmer, George; Steele, Cathal Laurence; Leahy, Timothy Ronan; Doffinger, Rainer; Baxendale, Helen; Bernatoniene, Jolanta; Edgar, J David M; Longhurst, Hilary J; Ehl, Stephan; Speckmann, Carsten; Grimbacher, Bodo; Sediva, Anna; Milota, Tomas; Faust, Saul N; Williams, Anthony P; Hayman, Grant; Kucuk, Zeynep Yesim; Hague, Rosie; French, Paul; Brooker, Richard; Forsyth, Peter; Herriot, Richard; Cancrini, Caterina; Palma, Paolo; Ariganello, Paola; Conlon, Niall; Feighery, Conleth; Gavin, Patrick J; Jones, Alison; Imai, Kohsuke; Ibrahim, Mohammad A A; Markelj, Gašper; Abinun, Mario; Rieux-Laucat, Frédéric; Latour, Sylvain; Pellier, Isabelle; Fischer, Alain; Touzot, Fabien; Casanova, Jean-Laurent; Durandy, Anne; Burns, Siobhan O; Savic, Sinisa; Kumararatne, D S; Moshous, Despina; Kracker, Sven; Vanhaesebroeck, Bart; Okkenhaug, Klaus; Picard, Capucine; Nejentsev, Sergey; Condliffe, Alison M; Cant, Andrew James

2017-02-01

Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in PIK3CD, the gene encoding the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ). We sought to review the clinical, immunologic, histopathologic, and radiologic features of APDS in a large genetically defined international cohort. We applied a clinical questionnaire and performed review of medical notes, radiology, histopathology, and laboratory investigations of 53 patients with APDS. Recurrent sinopulmonary infections (98%) and nonneoplastic lymphoproliferation (75%) were common, often from childhood. Other significant complications included herpesvirus infections (49%), autoinflammatory disease (34%), and lymphoma (13%). Unexpectedly, neurodevelopmental delay occurred in 19% of the cohort, suggesting a role for PI3Kδ in the central nervous system; consistent with this, PI3Kδ is broadly expressed in the developing murine central nervous system. Thoracic imaging revealed high rates of mosaic attenuation (90%) and bronchiectasis (60%). Increased IgM levels (78%), IgG deficiency (43%), and CD4 lymphopenia (84%) were significant immunologic features. No immunologic marker reliably predicted clinical severity, which ranged from asymptomatic to death in early childhood. The majority of patients received immunoglobulin replacement and antibiotic prophylaxis, and 5 patients underwent hematopoietic stem cell transplantation. Five patients died from complications of APDS. APDS is a combined immunodeficiency with multiple clinical manifestations, many with incomplete penetrance and others with variable expressivity. The severity of complications in some patients supports consideration of hematopoietic stem cell transplantation for severe childhood disease. Clinical trials of selective PI3Kδ inhibitors offer new prospects for APDS treatment. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

Variant forms of ataxia telangiectasia.

PubMed Central

Taylor, A M; Flude, E; Laher, B; Stacey, M; McKay, E; Watt, J; Green, S H; Harding, A E

1987-01-01

Two ataxia telangiectasia patients with unusual clinical and cellular features are described. Cultured fibroblasts and PHA stimulated lymphocytes from these two patients showed a smaller increase of radiosensitivity than cells from other A-T patients, as measured by colony forming ability or induced chromosome damage respectively, after exposure to ionising radiation. The response of DNA synthesis to irradiation of these cells was, however, the same as for other A-T patients. Cells from a third patient with some clinical features of A-T but with a very protracted course also showed low levels of radiation induced chromosome damage, but colony forming ability and the response of DNA synthesis after irradiation were no different from cells of normal subjects. There was, however, an increased level of translocations and unstable chromosomal rearrangements in this patient's lymphocytes. Images PMID:3430541

A practical guide to assessing clinical decision-making skills using the key features approach.

PubMed

Farmer, Elizabeth A; Page, Gordon

2005-12-01

This paper in the series on professional assessment provides a practical guide to writing key features problems (KFPs). Key features problems test clinical decision-making skills in written or computer-based formats. They are based on the concept of critical steps or 'key features' in decision making and represent an advance on the older, less reliable patient management problem (PMP) formats. The practical steps in writing these problems are discussed and illustrated by examples. Steps include assembling problem-writing groups, selecting a suitable clinical scenario or problem and defining its key features, writing the questions, selecting question response formats, preparing scoring keys, reviewing item quality and item banking. The KFP format provides educators with a flexible approach to testing clinical decision-making skills with demonstrated validity and reliability when constructed according to the guidelines provided.

Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to OPA1 mutation status.

PubMed

Gaier, Eric D; Boudreault, Katherine; Nakata, Isao; Janessian, Maria; Skidd, Philip; DelBono, Elizabeth; Allen, Keri F; Pasquale, Louis R; Place, Emily; Cestari, Dean M; Stacy, Rebecca C; Rizzo, Joseph F; Wiggs, Janey L

2017-01-01

Inherited optic neuropathy is genetically heterogeneous, and genetic testing has an important role in risk assessment and counseling. The purpose of this study is to determine the prevalence and spectrum of mutations in a group of patients referred for genetic testing to a tertiary center in the United States. In addition, we compared the clinical features of patients with and without mutations in OPA1 , the gene most commonly involved in dominantly inherited optic atrophy. Clinical data and genetic testing results were reviewed for 74 unrelated, consecutive patients referred with a history of insidious, relatively symmetric, bilateral visual loss secondary to an optic neuropathy. Patients were evaluated for disease-causing variants in OPA1 , OPA3 , WFS1 , and the entire mitochondrial genome with DNA sequencing and copy number variation (CNV) testing. Pathogenic DNA variants were found in 25 cases, with the majority (24 patients) located in OPA1 . Demographics, clinical history, and clinical features for the group of patients with mutations in OPA1 were compared to those without disease-causing variants. Compared to the patients without mutations, cases with mutations in OPA1 were more likely to have a family history of optic nerve disease (p = 0.027); however, 30.4% of patients without a family history of disease also had mutations in OPA1 . OPA1 mutation carriers had less severe mean deviation and pattern standard deviation on automated visual field testing than patients with optic atrophy without mutations in OPA1 (p<0.005). Other demographic and ocular features were not statistically significantly different between the two groups, including the fraction of patients with central scotomas (42.9% of OPA1 mutation positive and 66.0% of OPA1 mutation negative). Genetic testing identified disease-causing mutations in 34% of referred cases, with the majority of these in OPA1. Patients with mutations in OPA1 were more likely to have a family history of disease; however, 30.4% of patients without a family history were also found to have an OPA1 mutation. This observation, as well as similar frequencies of central scotomas in the groups with and without mutations in OPA1 , underscores the need for genetic testing to establish an OPA1 genetic diagnosis.

Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia: A Case Report.

PubMed

Jeong, Je Hoon; Lee, A Leum; Cho, Sung Yoon; Jin, Dong Kyu; Im, Soo-Bin

2016-05-01

SPOndylar and NAsal changes, with STRIations of the Metaphyses (SPONASTRIME) dysplasia (SD) is a dwarfing autosomal recessive syndrome, characterized by a variety of clinical and radiographic features, which form the basis for diagnosis. We describe the presentation of an Arnold Chiari malformation in a patient with a clinical diagnosis of SD. The malformation was successfully treated by decompression of the foramen magnum and elevation of the cerebellum, with complete resolution of pain.We report a rare case of Arnold Chiari malformation in a patient presenting with clinical and radiographic features strongly suggestive of SD and be successfully treated.

Influence of Lewy Pathology on Alzheimer's Disease Phenotype: A Retrospective Clinico-Pathological Study.

PubMed

Roudil, Jennifer; Deramecourt, Vincent; Dufournet, Boris; Dubois, Bruno; Ceccaldi, Mathieu; Duyckaerts, Charles; Pasquier, Florence; Lebouvier, Thibaud

2018-01-01

Studies have shown the frequent coexistence of Lewy pathology (LP) in Alzheimer's Disease (AD). The aim of this study was to determine the influence of LP on the clinical and cognitive phenotype in a cohort of patients with a neuropathological diagnosis of AD. We reviewed neuropathologically proven AD cases, reaching Braak stages V and VI in the brain banks of Lille and Paris between 1993 and 2016, and classified them according to LP extension (amygdala, brainstem, limbic, or neocortical). We then searched patient files for all available clinical and neuropsychiatric features and neuropsychological data. Thirty-three subjects were selected for this study, among which 16 were devoid of LP and 17 presented AD with concomitant LP. The latter were stratified into two subgroups according to LP distribution: 7 were AD with amygdala LP and 10 were AD with 'classical' (brainstem, limbic or neocortical) LP. When analyzing the incidence of each clinical feature at any point during the disease course, we found no significant difference in symptom frequency between the three groups. However, fluctuations appeared significantly earlier in patients with classical LP (2±3.5 years) than in patients without LP (7±1.7 years) or with amygdala LP (8±2.8 years; p < 0.01). There was no significant difference in cognitive profiles. Our findings suggest that the influence of LP on the clinical phenotype of AD is subtle. Core features of dementia with Lewy bodies do not allow clinical diagnosis of a concomitant LP on a patient-to-patient basis.

Rectal bleeding, fecal incontinence, and high stool frequency after conformal radiotherapy for prostate cancer: Normal tissue complication probability modeling

DOE Office of Scientific and Technical Information (OSTI.GOV)

Peeters, Stephanie; Hoogeman, Mischa S.; Heemsbergen, Wilma D.

2006-09-01

Purpose: To analyze whether inclusion of predisposing clinical features in the Lyman-Kutcher-Burman (LKB) normal tissue complication probability (NTCP) model improves the estimation of late gastrointestinal toxicity. Methods and Materials: This study includes 468 prostate cancer patients participating in a randomized trial comparing 68 with 78 Gy. We fitted the probability of developing late toxicity within 3 years (rectal bleeding, high stool frequency, and fecal incontinence) with the original, and a modified LKB model, in which a clinical feature (e.g., history of abdominal surgery) was taken into account by fitting subset specific TD50s. The ratio of these TD50s is the dose-modifyingmore » factor for that clinical feature. Dose distributions of anorectal (bleeding and frequency) and anal wall (fecal incontinence) were used. Results: The modified LKB model gave significantly better fits than the original LKB model. Patients with a history of abdominal surgery had a lower tolerance to radiation than did patients without previous surgery, with a dose-modifying factor of 1.1 for bleeding and of 2.5 for fecal incontinence. The dose-response curve for bleeding was approximately two times steeper than that for frequency and three times steeper than that for fecal incontinence. Conclusions: Inclusion of predisposing clinical features significantly improved the estimation of the NTCP. For patients with a history of abdominal surgery, more severe dose constraints should therefore be used during treatment plan optimization.« less

Clinical features of patients with nodal marginal zone lymphoma compared to follicular lymphoma: similar presentation, but differences in prognostic factors and rate of transformation.

PubMed

van den Brand, Michiel; van der Velden, Walter J F M; Diets, Illja J; Ector, Geneviève I C G; de Haan, Anton F J; Stevens, Wendy B C; Hebeda, Konnie M; Groenen, Patricia J T A; van Krieken, Han J M

2016-07-01

Nodal marginal zone lymphoma (NMZL) is a rare type of B-cell non-Hodgkin lymphoma. This study assessed the clinical features of 56 patients with NMZL in comparison to 46 patients with follicular lymphoma (FL). Patients with NMZL and FL had a largely similar clinical presentation, but patients with FL had a higher disease stage at presentation, more frequent abdominal lymphadenopathy and bone marrow involvement, and showed more common transformation into diffuse large B-cell lymphoma (DLBCL) during the course of disease. Overall survival and event-free survival were similar for patients with NMZL and FL, but factors associated with worse prognosis differed between the two groups. Transformation into DLBCL was associated with a significantly poorer outcome in both groups, but the phenotypes were different: DLBCL arising in FL was mainly of germinal center B-cell phenotype, whereas DLBCL arising in NMZL was mainly of non-germinal center B-cell phenotype.

Corticosteroid-treated chronic active hepatitis in remission: uncertain prognosis of chronic persistent hepatitis.

PubMed

Czaja, A J; Ludwig, J; Baggenstoss, A H; Wolf, A

1981-01-01

To assess the prognosis of patients with severe chronic hepatitis after histologic examination had shown an improvement to chronic persistent hepatitis, we followed 52 such patients regularly for 54 +/- 4 months after the cessation of corticosteroid therapy. In 24 patients, the condition deteriorated 7 +/- 1 months after therapy and required further treatment with prednisone. Histologic features of chronic active hepatitis, including bridging and multilobular necrosis, were documented in all 14 patients in whom biopsies were performed. In 20 of 24 patients, the disease responded to retreatment, but 13 again had relapses, and cirrhosis developed in two. Of 28 patients who remained asymptomatic for 48 +/- 6 months, 17 retained features of chronic persistent hepatitis, and nine had improvement to normal histologic features. Cirrhosis developed in two patients without clinical manifestations of active inflammation. Findings before and after treatment did not predict outcome. We conclude that severe chronic active hepatitis that has been treated with prednisone and converted to chronic persistent hepatitis will often and unpredictably deteriorate after treatment has been stopped. Cirrhosis develops rarely but may occur with or without clinically overt chronic active hepatitis.

Clinical and vascular features of Takayasu arteritis at the time of ischemic stroke.

PubMed

de Paula, Luiz Eduardo; Alverne, Andrea Rocha; Shinjo, Samuel K

2013-01-01

Takayasus arteritis (TA) is a systemic vasculitis whose clinical presentation varies from asymptomatic to serious neurovascular events, including stroke. However, few studies are currently available assessing stroke in TA. Thus, we described the clinical and laboratory characteristics and vascular imaging features in patients with TA at the time of stroke. This is a single center retrospective cohort study investigating the clinical and demographic data of 18 (15.0%) patients with a history of stroke confirmed by imaging methods, among 120 patients with TA, assessed in the 1985-2012 period. The mean age of the 18 patients at the time of stroke was 29.4+/-10.9 years, with 94.4% female and 88.9% Caucasian. Of these patients, 14 (77.8%) had previous stroke at diagnosis of TA, while in four cases the stroke occurred after confirmed TA diagnosis. Regarding the clinical course, 12 (66.7%) had peripheral neurological sequelae and one patient died as a result of cerebral hyperperfusion syndrome after carotid revascularization. Our results showed a high prevalence of stroke in TA and revealed most of these events occurred concomitantly with diagnosed TA. Moreover, although four patients had strokes after diagnosis of TA, these occurred at a young age, demonstrating they were most likely the result of vascular changes secondary to TA.

Sheehan's Syndrome-The Most Common Cause of Panhypopituitarism at Moderate Altitude: A Sub-Himalayan Study.

PubMed

Mokta, Jatinder; Ranjan, Asha; Thakur, Surinder; Bhawani, Rajesh; Mokta, Kiran K; Sharma, Jai Bharat; Kumar, Manish

2017-12-01

Panhypopituitarism is a rare disorder with varied clinical presentation having various etiologies. Sheehan's syndrome (SS) is decreasing in frequency worldwide and is a rare cause of panhypopituitarism in developed nations. A retrospective study done between May 2011 and May 2015 in tertiary care hospital. We reviewed the records of patients with hypopituitarism. Clinical features, hormonal profile and radiological investigations noted. Total 14 patients of panhypopituitarism included with average duration of symptoms 1.93± 1.96 years. four (28.57%) were males and ten (71.43%) were females with mean age of diagnosis 37.78± 13.68 years. Sheehan's syndrome (SS) was the most common cause of panhypopituitarism in 57.14%(8 patients), followed by post surgery in 14.28% (2 patients). 80% of women had SS with a mean duration of symptoms 2.39±1.54 years. Sheehan's syndrome is not uncommon in developing countries, High degree of clinical suspicion is desired as clinical features are most often subtle.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals.

PubMed

Yap, Kai Lee; Johnson, Amy E Knight; Fischer, David; Kandikatla, Priscilla; Deml, Jacea; Nelakuditi, Viswateja; Halbach, Sara; Jeha, George S; Burrage, Lindsay C; Bodamer, Olaf; Benavides, Valeria C; Lewis, Andrea M; Ellard, Sian; Shah, Pratik; Cody, Declan; Diaz, Alejandro; Devarajan, Aishwarya; Truong, Lisa; Greeley, Siri Atma W; De Leó-Crutchlow, Diva D; Edmondson, Andrew C; Das, Soma; Thornton, Paul; Waggoner, Darrel; Del Gaudio, Daniela

2018-06-15

Describe the clinical and molecular findings of patients with Kabuki syndrome (KS) who present with hypoglycemia due to congenital hyperinsulinism (HI), and assess the incidence of KS in patients with HI. We documented the clinical features and molecular diagnoses of 10 infants with persistent HI and KS via a combination of sequencing and copy-number profiling methodologies. Subsequently, we retrospectively evaluated 100 infants with HI lacking a genetic diagnosis, for causative variants in KS genes. Molecular diagnoses of KS were established by identification of pathogenic variants in KMT2D (n = 5) and KDM6A (n = 5). Among the 100 infants with HI of unknown genetic etiology, a KS diagnosis was uncovered in one patient. The incidence of HI among patients with KS may be higher than previously reported, and KS may account for as much as 1% of patients diagnosed with HI. As the recognition of dysmorphic features associated with KS is challenging in the neonatal period, we propose KS should be considered in the differential diagnosis of HI. Since HI in patients with KS is well managed medically, a timely recognition of hyperinsulinemic episodes will improve outcomes, and prevent aggravation of the preexisting mild to moderate intellectual disability in KS.

Predictors of the pathogenicity of methicillin-resistant Staphylococcus aureus nosocomial pneumonia.

PubMed

Nagaoka, Kentaro; Yanagihara, Katsunori; Harada, Yosuke; Yamada, Koichi; Migiyama, Yohei; Morinaga, Yoshitomo; Izumikawa, Koichi; Kakeya, Hiroshi; Yamamoto, Yoshihiro; Nishimura, Masaharu; Kohno, Shigeru

2014-05-01

The clinical characteristics of patients with nosocomial pneumonia (NP) associated with methicillin-resistant Staphylococcus aureus (MRSA) infection are not well characterized. Three hundred and thirty-seven consecutive patients with MRSA isolation from respiratory specimens who attended our hospital between April 2007 and March 2011 were enrolled. Patients characteristics diagnosed with 'true' MRSA-NP were described with regards to clinical, microbiological features, radiological features and genetic characteristics of the isolates. The diagnosis of 'true' MRSA-NP was confirmed by anti-MRSA treatment effects, Gram-staining or bronchoalveolar lavage fluid culture. Thirty-six patients were diagnosed with 'true' MRSA-NP, whereas 34 were diagnosed with NP with MRSA colonization. Patients with a MRSA-NP had a Pneumonia Patient Outcomes Research Team score of 5 (58.3% vs 23.5%), single cultivation of MRSA (83.3% vs 38.2%), MRSA quantitative cultivation yielding more than 10(6) CFU/mL (80.6% vs 47.1%), radiological findings other than lobar pneumonia (66.7% vs 26.5%), and a history of head, neck, oesophageal or stomach surgery (30.6% vs 11.8%). These factors were shown to be independent predictors of the pathogenicity of 'true' MRSA-NP by multivariate analysis (P < 0.05). 'True' MRSA-NP shows distinct clinical and radiological features from NP with MRSA colonization. © 2014 Asian Pacific Society of Respirology.

Pneumococcal pneumonia: clinical features, diagnosis and management in HIV-infected and HIV noninfected patients.

PubMed

Madeddu, Giordano; Fois, Alessandro Giuseppe; Pirina, Pietro; Mura, Maria Stella

2009-05-01

In this review, we focus on the clinical features, diagnosis and management of pneumococcal pneumonia in HIV-infected and noninfected patients, with particular attention to the most recent advances in this area. Classical clinical features are found in young adults, whereas atypical forms occur in immunocompromised patients including HIV-infected individuals. Bacteremic pneumococcal pneumonia is more frequently observed in HIV-infected and also in low-risk patients, according to the Pneumonia Severity Index (PSI). Pneumococcal pneumonia diagnostic process includes physical examination, radiologic findings and microbiologic diagnosis. However, etiologic diagnosis using traditional culture methods is difficult to obtain. In this setting, urinary antigen test, which recognizes Streptococcus pneumoniae cell wall C-polysaccharide, increases the probability of etiologic diagnosis. A correct management approach is crucial in reducing pneumococcal pneumonia mortality. The use of the PSI helps clinicians in deciding between inpatient and outpatient management in immunocompetent individuals, according to Infectious Diseases Society of America (IDSA)-American Thoracic Society (ATS) guidelines. Recent findings support PSI utility also in HIV-infected patients. Recently, efficacy of pneumococcal vaccine in reducing pneumococcal disease incidence has been evidenced in both HIV-infected and noninfected individuals. Rapid diagnosis and correct management together with implementation of preventive measures are crucial in order to reduce pneumococcal pneumonia related incidence and mortality in HIV-infected and noninfected patients.

Clinical Characteristics of Seven Patients with Lanthanum Phosphate Deposition in the Stomach.

PubMed

Murakami, Naoko; Yoshioka, Masao; Iwamuro, Masaya; Nasu, Junichirou; Nose, Soichiro; Shiode, Junji; Okada, Hiroyuki; Yamamoto, Kazuhide

2017-08-15

Objective To analyze the clinical characteristics and endoscopic features of patients with lanthanum deposition in the stomach. Patients We retrospectively reviewed seven patients with lanthanum deposition in the stomach who were diagnosed at Okayama Saiseikai General Hospital. We investigated the patient sex, age at diagnosis, medical and medication histories, gastrointestinal symptoms, complications, presence or absence of gastric atrophy, and outcome. We also investigated any changes in the endoscopic features if previous endoscopic images were available. Results Seven patients (six males and one female) had lanthanum deposition. The median age was 65 years (range, 50-79 years). All patients had been undergoing dialysis (continuous ambulatory peritoneal dialysis in one patient, hemodialysis in six patients). The dialysis period ranged from 16 to 73 months (median, 52 months). The patients had all been taking lanthanum carbonate for a period ranging from 5 to 45 months (median, 27 months). Gastric atrophy was noted in 6 patients (85.7%). One patient had difficulty swallowing, and 1 other patient had appetite loss. The other 5 patients were asymptomatic. Endoscopic features included annular whitish mucosa (n = 4), diffuse whitish mucosa (n = 3), and whitish spots (n = 2). Five patients underwent multiple esophagogastroduodenoscopy. The endoscopic features were unchanged in 2 patients, whereas the whitish mucosa became apparent and spread during the course in 3 patients. Conclusion We identified 7 patients with lanthanum deposition in the stomach. All patients showed whitish lesions macroscopically. Although the pathogenicity of gastric lanthanum deposition is uncertain, lanthanum-related lesions in the stomach progressed during continuous lanthanum phosphate intake in several patients.

Progressive biparietal atrophy: an atypical presentation of Alzheimer's disease.

PubMed Central

Ross, S J; Graham, N; Stuart-Green, L; Prins, M; Xuereb, J; Patterson, K; Hodges, J R

1996-01-01

OBJECTIVES: To define the clinical, neuropsychological, and radiological features of bilateral parietal lobe atrophy. METHODS: Four patients underwent a comprehensive longitudinal neuropsychological assessment, as well as MRI and HMPAO-SPECT. RESULTS: The consistent findings in the patients were early visuospatial problems, agraphia of a predominantly peripheral (or apraxic) type, and difficulty with bimanual tasks, all of which outweighted deficits in memory and language until later in the course of the illness. As the disease progressed, impairments in the phonological aspects of language and in auditory-verbal short term memory were often striking, perhaps reflecting spread from the parietal lobe to perisylvian language areas. Three patients went on to develop a global dementia and fulfilled the criteria for a clinical diagnosis of probable Alzheimer's disease; the fourth patient has only recently been identified. Neuroimaging disclosed bilateral parietal lobe atrophy (MRI) and hypoperfusion (SPECT), which was out of proportion to that seen elsewhere in the brain. One patient has died and had pathologically confirmed Alzheimer's disease with particular concentration in both superior parietal lobes. CONCLUSIONS: Bilateral biparietal atrophy is a recognisable clinical syndrome which can be the presenting feature of Alzheimer's disease. Although the label "posterior cortical atrophy" has been applied to such cases, review of the medical literature suggests that this broad rubric actually consists of two main clinical syndromes with features reflecting involvement of the occipitotemporal (ventral) and biparietal (dorsal) cortical areas respectively. Images PMID:8890778

A clinically useful self-report measure of the DSM-5 mixed features specifier of major depressive disorder.

PubMed

Zimmerman, Mark; Chelminski, Iwona; Young, Diane; Dalrymple, Kristy; Martinez, Jennifer H

2014-10-01

To acknowledge the clinical significance of manic features in depressed patients, DSM-5 included criteria for a mixed features specifier for major depressive disorder (MDD). In the present report from the Rhode Island Methods to Improve Diagnostic Assessment and Services (MIDAS) project we modified our previously published depression scale to include a subscale assessing the DSM-5 mixed features specifier. More than 1100 psychiatric outpatients with MDD or bipolar disorder completed the Clinically Useful Depression Outcome Scale (CUDOS) supplemented with questions for the DSM-5 mixed features specifier (CUDOS-M). To examine discriminant and convergent validity the patients were rated on clinician severity indices of depression, anxiety, agitation, and irritability. Discriminant and convergent validity was further examined in a subset of patients who completed other self-report symptom severity scales. Test-retest reliability was examined in a subset who completed the CUDOS-M twice. We compared CUDOS-M scores in patients with MDD, bipolar depression, and hypomania. The CUDOS-M subscale had high internal consistency and test-retest reliability, was more highly correlated with another self-report measure of mania than with measures of depression, anxiety, substance use problems, eating disorders, and anger, and was more highly correlated with clinician severity ratings of agitation and irritability than anxiety and depression. CUDOS-M scores were significantly higher in hypomanic patients than depressed patients, and patients with bipolar depression than patients with MDD. The study was cross-sectional, thus we did not examine whether the CUDOS-M detects emerging mixed symptoms when depressed patients are followed over time. Also, while we examined the correlation between the CUDOS-M and clinician ratings of agitation and irritability, we did not examine the association with a clinician measure of manic symptomatology such as the Young Mania Rating Scale In the present study of a large sample of psychiatric outpatients, the CUDOS-M was a reliable and valid measure of the DSM-5 mixed features specifier for MDD. Copyright © 2014 Elsevier B.V. All rights reserved.

Epileptic spasms are a feature of DEPDC5 mTORopathy

PubMed Central

Carvill, Gemma L.; Crompton, Douglas E.; Regan, Brigid M.; McMahon, Jacinta M.; Saykally, Julia; Zemel, Matthew; Schneider, Amy L.; Dibbens, Leanne; Howell, Katherine B.; Mandelstam, Simone; Leventer, Richard J.; Harvey, A. Simon; Mullen, Saul A.; Berkovic, Samuel F.; Sullivan, Joseph; Scheffer, Ingrid E.

2015-01-01

Objective: To assess the presence of DEPDC5 mutations in a cohort of patients with epileptic spasms. Methods: We performed DEPDC5 resequencing in 130 patients with spasms, segregation analysis of variants of interest, and detailed clinical assessment of patients with possibly and likely pathogenic variants. Results: We identified 3 patients with variants in DEPDC5 in the cohort of 130 patients with spasms. We also describe 3 additional patients with DEPDC5 alterations and epileptic spasms: 2 from a previously described family and a third ascertained by clinical testing. Overall, we describe 6 patients from 5 families with spasms and DEPDC5 variants; 2 arose de novo and 3 were familial. Two individuals had focal cortical dysplasia. Clinical outcome was highly variable. Conclusions: While recent molecular findings in epileptic spasms emphasize the contribution of de novo mutations, we highlight the relevance of inherited mutations in the setting of a family history of focal epilepsies. We also illustrate the utility of clinical diagnostic testing and detailed phenotypic evaluation in characterizing the constellation of phenotypes associated with DEPDC5 alterations. We expand this phenotypic spectrum to include epileptic spasms, aligning DEPDC5 epilepsies more with the recognized features of other mTORopathies. PMID:27066554

Depression and anxiety in a case series of amyotrophic lateral sclerosis: frequency and association with clinical features

PubMed Central

Prado, Laura de Godoy Rousseff; Bicalho, Isabella Carolina Santos; Vidigal-Lopes, Mauro; Prado, Vitor de Godoy Rousseff; Gomez, Rodrigo Santiago; de Souza, Leonardo Cruz; Teixeira, Antônio Lúcio

2017-01-01

ABSTRACT Objective To investigate the frequency of anxiety and depression and their association with clinical features of amyotrophic lateral sclerosis. Methods This is a cross-sectional and descriptive study including a consecutive series of patients with sporadic amyotrophic lateral sclerosis according to Awaji’s criteria. Patients underwent clinical and psychiatric assessment (anxiety and depression symptoms). Results We included 76 patients. The men/women ratio was 1.6:1. Participants’ mean age at disease onset was 55 years (SD±12.1). Sixty-six patients (86.8%) were able to complete psychiatric evaluation. Clinically significant anxiety was found in 23 patients (34.8%) while clinically significant depression was found in 24 patients (36.4%). When we compared patients with and without depression a significant difference was seen only in the frequency of anxiety symptoms (p<0.001). We did further analysis comparing subgroups of patients classified according to the presence or not of anxiety and or depression, without any significant difference regarding sex, age at onset, initial form, disease duration or functional measures. A positive correlation between anxiety and depressive symptoms was found (p<0.001). Conclusion Anxiety and depressive symptoms were highly correlated and frequent in patients with amyotrophic lateral sclerosis. In addition, anxiety and depression were not associated with disease duration and presentation, sex, age at onset, and functional score. PMID:28444090

De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features.

PubMed

Webster, Emily; Cho, Megan T; Alexander, Nora; Desai, Sonal; Naidu, Sakkubai; Bekheirnia, Mir Reza; Lewis, Andrea; Retterer, Kyle; Juusola, Jane; Chung, Wendy K

2016-11-01

Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein ( PHIP ) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features. A nonsense mutation in PHIP has previously been associated with similar clinical features. Patients with microdeletions of 6q14.1, including PHIP , have a similar phenotype of developmental delay, intellectual disability, hypotonia, and obesity, suggesting that the phenotype of our patients is a result of loss-of-function mutations. PHIP produces multiple protein products, such as PHIP1 (also known as DCAF14), PHIP, and NDRP. PHIP1 is one of the multiple substrate receptors of the proteolytic CUL4-DDB1 ubiquitin ligase complex. CUL4B deficiency has been associated with intellectual disability, central obesity, muscle wasting, and dysmorphic features. The overlapping phenotype associated with CUL4B deficiency suggests that PHIP mutations cause disease through disruption of the ubiquitin ligase pathway.

Comparison of the clinical and cognitive features of genetically positive ALS patients from the largest tertiary center in Serbia.

PubMed

Marjanović, Ivan V; Selak-Djokić, Biljana; Perić, Stojan; Janković, Milena; Arsenijević, Vladimir; Basta, Ivana; Lavrnić, Dragana; Stefanova, Elka; Stević, Zorica

2017-06-01

Discovering novel mutations in C9orf72, FUS, ANG, and TDP-43 genes in ALS patients arises necessities for better clinical characterizations of these subjects. The aim is to determine clinical and cognitive profile of genetically positive Serbian ALS patients. 241 ALS patients were included in the study (17 familiar and 224 apparently sporadic). The following genes were analyzed: SOD1, C9orf72, ANG, FUS, and TDP-43. An extensive battery of classic neuropsychological tests was used in 27 ALS patients (22 SOD1 positive and 5 SOD1 negative) and 82 healthy controls (HCs). Overall 37 (15.4%) of 241 ALS patients carried mutations in tested genes-among 17 familiar ALS patients 16 (94.1%) were positive and among 224 apparently sporadic 21 (9.4%) had causative mutation. Mutations in SOD1 gene were the most common, representing 27 (73.0%) of all genetically positive ALS patients. The main clinical characteristics of SOD1 positive patients were: spinal onset in lower extremities, common sphincter and sensitive disturbances, and dysexecutive syndrome. Within SOD1 positive patients, we noticed somewhat earlier onset in patients with A145G, sensory and sphincter disturbances were dominant in patients with L144F, while D90A patients had significant sensory involvement. SOD1 negative group consisted of ten (27.0%) patients (six C9orf72, two ANG, one TDP-43, and one patient baring triple FUS, C9orf72 expansion, and ANG variants). Bulbar involvement and more extensive neuropsychological impairment (including executive, visuospatial, and memory difficulties) were the main features of SOD1 negative cohort. Our results suggest that meaningful clinical suspicion of certain ALS genotype might be made based on thorough clinical evaluation of patients.

Clinical and radiologic features of unilateral and bilateral schizencephaly in polish pediatric patients.

PubMed

Kopyta, Ilona; Jamroz, Ewa; Kluczewska, Ewa; Sarecka-Hujar, Beata

2014-04-01

Schizencephaly is a rare and severe congenital brain defect. Its etiology is not unequivocal and its clinical course differs with every case. The aim of the study was to analyze correlations between clinical and radiologic features of schizencephaly in Polish patients. The study group consisted of 25 children. Epileptic seizures were observed in 60% of cases and in 32% epilepsy was drug resistant. Generalized hypotonia was found in 24%, spastic diparesis in 48%, and spastic hemiparesis in 28% of cases. Seizures were more frequent in the bilateral than unilateral schizencephaly subgroup (72% vs 29%, P = .045). There was a correlation between the presence of the bilateral type II schizencephaly and the occurrence of seizures (P = .002, r = 0.578). There is a correlation between the type of schizencephaly and the presence of seizures in Polish pediatric patients. In most of the patients, schizencephaly leads to developmental retardation and epileptic seizures.

Epidemiological features and clinical manifestations of Lyme borreliosis in Korea during the period 2005-2012.

PubMed

Moon, Shinje; Hong, Yeongseon; Hwang, Kyu-Jam; Kim, Suyeon; Eom, Jihye; Kwon, Donghyok; Park, Ji-Hyuk; Youn, Seung-Ki; Sohn, Aeree

2015-01-01

Lyme borreliosis is one of the most common tick-borne infections in the northern hemisphere. However, the epidemiological features and clinical manifestations of this disease in Korea are unknown. The present study is the first to investigate the characteristics of Lyme borreliosis in Korea. We traced suspected cases of Lyme borreliosis during the period 2005-2012. Of the 16 identified patients with the disease, 11 had acquired autochthonous infection within Korea, while 5 patients were infected outside Korea. The history of past exposure was investigated in 8 of the 11 patients with autochthonous infection; 5 of these 8 patients (62.5%) were suspected to have acquired the infection in the northeastern alpine region. Clinically, of 11 patients with autochthonous infection, 6 (54.5%) showed early skin manifestations, 4 (36.4%) showed neurological manifestations, and 1 (9.1%) showed acrodermatitis chronica atrophicans. In conclusion, Lyme borreliosis could be endemic in the northeastern alpine region of Korea, and neurological and early skin manifestations are likely to be the major clinical characteristics of autochthonous Lyme borreliosis in Korea.

Psoriasis or not? Review of 51 clinically confirmed cases reveals an expanded histopathologic spectrum of psoriasis.

PubMed

Chau, Thinh; Parsi, Kory K; Ogawa, Toru; Kiuru, Maija; Konia, Thomas; Li, Chin-Shang; Fung, Maxwell A

2017-12-01

Psoriasis is usually diagnosed clinically, so only non-classic or refractory cases tend to be biopsied. Diagnostic uncertainty persists when dermatopathologists encounter features regarded as non-classic for psoriasis. Define and document classic and non-classic histologic features in skin biopsies from patients with clinically confirmed psoriasis. Minimal clinical diagnostic criteria were informally validated and applied to a consecutive series of biopsies histologically consistent with psoriasis. Clinical confirmation required 2 of the following criteria: (1) classic morphology, (2) classic distribution, (3) nail pitting, and (4) family history, with #1 and/or #2 as 1 criterion in every case RESULTS: Fifty-one biopsies from 46 patients were examined. Classic features of psoriasis included hypogranulosis (96%), club-shaped rete ridges (96%), dermal papilla capillary ectasia (90%), Munro microabscess (78%), suprapapillary plate thinning (63%), spongiform pustules (53%), and regular acanthosis (14%). Non-classic features included irregular acanthosis (84%), junctional vacuolar alteration (76%), spongiosis (76%), dermal neutrophils (69%), necrotic keratinocytes (67%), hypergranulosis (65%), neutrophilic spongiosis (61%), dermal eosinophils (49%), compact orthokeratosis (37%), papillary dermal fibrosis (35%), lichenoid infiltrate (25%), plasma cells (16%), and eosinophilic spongiosis (8%). Psoriasis exhibits a broader histopathologic spectrum. The presence of some non-classic features does not necessarily exclude the possibility of psoriasis. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Clinical characterization of autoimmune encephalitis and psychosis.

PubMed

Hao, Qinjian; Wang, Dahai; Guo, Lanting; Zhang, Bo

2017-04-01

Autoimmune disorders are growing alarmingly high in prevalence across the globe. Autoimmune encephalitis has had a dramatic impact on the medical field, effectually altering diagnostic and treatment paradigms in regard to neuropsychiatric disorders. Our primary goal in conducting this study was to analyze the clinical characteristics of autoimmune encephalitis patients, with special focus on psychiatric presentations, in the West China Hospital and report patient prognoses after immunotherapy. Data for patients admitted to the West China Hospital with autoimmune encephalitis diagnoses from 2015 to 2016 were collected and the corresponding clinical features were analyzed. We ultimately included 70 patients with autoimmune encephalitis: 56 (80%) anti-NMDAR encephalitis patients, 8 (11%) LGI1 antibody encephalitis patients, and 6 (9%) GABAbR antibody encephalitis patients. The median age of the 70 patients was 33years, 40% were female, and the initial symptoms in 31 patients (44%) were psychiatric in nature. Psychiatric disturbance appeared in 58 patients (83%) during inpatient treatment, after which 57 patients (81%) recovered. Many patients with autoimmune encephalitis present psychotic symptoms; psychiatric symptoms typically appear before neurological features emerge. Timely diagnosis and treatment may yield favorable prognosis. Copyright © 2016 Elsevier Inc. All rights reserved.

Clinical manifestations of primary hyperthyroidism in the elderly patients at the out-patient clinic of Srinagarind Hospital.

PubMed

Limpawattana, Panita; Sawanyawisut, Kittisak; Mahankanukrau, Ajanee; Wongwipaporn, Chaiyasit

2006-02-01

The authors reviewed the outpatient charts diagnosed as hyperthyroidism at Srinagarind Hospital from June 1998-June 2004. The objective was to compare the clinical features of hyperthyroidism in patients older and younger than 60 years old. There were 922 cases enrolled, 84 cases (9.11%) were 60 years old and above. The female: male ratio was 3.4:1 and 4:1 and the mean ages were 64.2 +/- 3.7 and 37.4 +/- 11.2 years old in the elder and younger group, respectively. The common presentations were dyspnea (94.1, 96.5%), weight loss (93.8, 87.9%) and palpitation (83.3, 93.1%) in the elder and younger, respectively. The more significant clinical presentations in the elder group were atrial fibrillation, weakness and anorexia whereas exophthalmos, goiter, heat intolerance and hyperhidrosis were not as frequent. Thus, the classic presentations often lacked in the elder group. Therefore, unexplained AF, weakness and anorexia should not exclude hyperthyroidism even with paucity of typical clinical features.

Identification of appropriate patients for cardiometabolic risk management.

PubMed

Peters, Anne L

2007-01-01

Patients at increased risk for cardiovascular disease have a wide array of clinical features that should alert practitioners to the need for risk reduction. Some, but not all, of these features relate to insulin resistance. Multiple approaches exist for diagnosing and defining this risk, including the traditional Framingham risk assessment, various definitions of the metabolic syndrome, and assessment of risk factors not commonly included in the standard criteria. This article reviews the many clinical findings that should alert healthcare providers to the need for aggressive cardiovascular risk reduction.

Behçet's disease patients with multiple sclerosis-like features: discriminative value of Barkhof criteria.

PubMed

Akman-Demir, Gulsen; Mutlu, Melike; Kiyat-Atamer, Asli; Shugaiv, Erkingul; Kurtuncu, Murat; Tugal-Tutkun, Ilknur; Tuzun, Erdem; Eraksoy, Mefkure; Bahar, Sara

2015-01-01

Behçet's disease (BD) is a systemic auto-inflammatory disorder of unknown cause, which may affect the central nervous system in around 5% of the patients [neuro-BD (NBD)], usually causing large lesions encompassing brainstem, diencephalon and basal ganglia regions. Occasionally NBD patients present with white matter lesions necessitating differential diagnosis from multiple sclerosis (MS). In this study, the efficacy of Barkhof criteria was tested in diagnostic differentiation of NBD and MS. Charts and MRIs of 84 NBD patients were retrospectively evaluated. Clinical and radiological features of NBD patients fulfilling (Barkhof+) and not fulfilling Barkhof criteria (Barkhof-) were compared. While the Barkhof- patients (n=73) mostly displayed typical large lesions covering brainstem, diencephalon and basal ganglia regions and neurological findings consistent with brainstem involvement, all Barkhof+ (n=11) patients demonstrated MS-like white matter lesions, fulfilled McDonald's criteria and showed reduced frequency of brainstem symptoms and increased frequency of hemiparesis, hemihypesthesia and spinal cord symptoms. Moreover, the Barkhof+ group had more female patients, increased number of attacks, higher rate of oligoclonal band positivity and less patients with cerebrospinal fluid pleocytosis. A subgroup of BD patients with neurological complaints displays MS-like lesions, fulfills the clinical and radiological criteria of MS and presents with clinical and laboratory features resembling those of MS rather than NBD. These results suggest that Barkhof+ patients are either an overlapping group between NBD and MS, or they represent MS patients with concomitant systemic findings of BD, rather than NBD. Barkhof criteria appear to be effective in discriminating these patients.

Differentiating the frontal variant of Alzheimer's disease.

PubMed

Woodward, Michael; Jacova, Claudia; Black, Sandra E; Kertesz, Andrew; Mackenzie, Ian R; Feldman, Howard

2010-07-01

Individuals with a clinical diagnosis of Alzheimer's disease (AD) may have prominent features of executive dysfunction and language impairment as well as behavioral abnormalities early in the disease ('high frontality'). When this occurs differentiation from frontotemporal dementia (FTD) is difficult. It is hypothesized that AD patients with high frontality may have clinical and pathological features that distinguish them from less frontal AD patients. In a well-characterized cohort of people with cognitive impairment, we used the Frontal Behavioral Inventory (FBI) in an attempt to identify AD patients with prominent frontal features (high-FBI AD) and distinguish them from the remainder of AD patients (low-FBI AD). The 18 high-FBI AD patients were compared with the 26 FTD patients who had an FBI performed and the 53 other low FBI AD patients. The individual FBI items did not differ significantly between the FTD and the high-FBI AD patients, and the high FBI AD patients were more like the FTD patients than the other AD patients with respect to presence of a family history of AD, proportion with homozygous apolipoprotein E(4) status, disability as measured by the Disability Assessment for Dementia (DAD) Scale and the Functional Rating Scale (FRS) and neuropsychiatric impairment as measured by the Neuropsychiatric Inventory (NPI). Memory symptom duration was similar in the high FBI AD group compared to the low FBI AD group. There is a subgroup of AD patients with high frontality that can be clinically distinguished from the remainder of AD patients but which requires pathological verification. (c) 2009 John Wiley & Sons, Ltd.

Predicting clinical decline in progressive agrammatic aphasia and apraxia of speech.

PubMed

Whitwell, Jennifer L; Weigand, Stephen D; Duffy, Joseph R; Clark, Heather M; Strand, Edythe A; Machulda, Mary M; Spychalla, Anthony J; Senjem, Matthew L; Jack, Clifford R; Josephs, Keith A

2017-11-28

To determine whether baseline clinical and MRI features predict rate of clinical decline in patients with progressive apraxia of speech (AOS). Thirty-four patients with progressive AOS, with AOS either in isolation or in the presence of agrammatic aphasia, were followed up longitudinally for up to 4 visits, with clinical testing and MRI at each visit. Linear mixed-effects regression models including all visits (n = 94) were used to assess baseline clinical and MRI variables that predict rate of worsening of aphasia, motor speech, parkinsonism, and behavior. Clinical predictors included baseline severity and AOS type. MRI predictors included baseline frontal, premotor, motor, and striatal gray matter volumes. More severe parkinsonism at baseline was associated with faster rate of decline in parkinsonism. Patients with predominant sound distortions (AOS type 1) showed faster rates of decline in aphasia and motor speech, while patients with segmented speech (AOS type 2) showed faster rates of decline in parkinsonism. On MRI, we observed trends for fastest rates of decline in aphasia in patients with relatively small left, but preserved right, Broca area and precentral cortex. Bilateral reductions in lateral premotor cortex were associated with faster rates of decline of behavior. No associations were observed between volumes and decline in motor speech or parkinsonism. Rate of decline of each of the 4 clinical features assessed was associated with different baseline clinical and regional MRI predictors. Our findings could help improve prognostic estimates for these patients. © 2017 American Academy of Neurology.

A Bayesian framework for early risk prediction in traumatic brain injury

NASA Astrophysics Data System (ADS)

Chaganti, Shikha; Plassard, Andrew J.; Wilson, Laura; Smith, Miya A.; Patel, Mayur B.; Landman, Bennett A.

2016-03-01

Early detection of risk is critical in determining the course of treatment in traumatic brain injury (TBI). Computed tomography (CT) acquired at admission has shown latent prognostic value in prior studies; however, no robust clinical risk predictions have been achieved based on the imaging data in large-scale TBI analysis. The major challenge lies in the lack of consistent and complete medical records for patients, and an inherent bias associated with the limited number of patients samples with high-risk outcomes in available TBI datasets. Herein, we propose a Bayesian framework with mutual information-based forward feature selection to handle this type of data. Using multi-atlas segmentation, 154 image-based features (capturing intensity, volume and texture) were computed over 22 ROIs in 1791 CT scans. These features were combined with 14 clinical parameters and converted into risk likelihood scores using Bayes modeling. We explore the prediction power of the image features versus the clinical measures for various risk outcomes. The imaging data alone were more predictive of outcomes than the clinical data (including Marshall CT classification) for discharge disposition with an area under the curve of 0.81 vs. 0.67, but less predictive than clinical data for discharge Glasgow Coma Scale (GCS) score with an area under the curve of 0.65 vs. 0.85. However, in both cases, combining imaging and clinical data increased the combined area under the curve with 0.86 for discharge disposition and 0.88 for discharge GCS score. In conclusion, CT data have meaningful prognostic value for TBI patients beyond what is captured in clinical measures and the Marshall CT classification.

Predictors of the development of myocarditis or acute renal failure in patients with leptospirosis: An observational study

PubMed Central

2012-01-01

Background Leptospirosis has a varied clinical presentation with complications like myocarditis and acute renal failure. There are many predictors of severity and mortality including clinical and laboratory parameters. Early detection and treatment can reduce complications. Therefore recognizing the early predictors of the complications of leptospirosis is important in patient management. This study was aimed at determining the clinical and laboratory predictors of myocarditis or acute renal failure. Methods This was a prospective descriptive study carried out in the Teaching Hospital, Kandy, from 1st July 2007 to 31st July 2008. Patients with clinical features compatible with leptospirosis case definition were confirmed using the Microscopic Agglutination Test (MAT). Clinical features and laboratory measures done on admission were recorded. Patients were observed for the development of acute renal failure or myocarditis. Chi-square statistics, Fisher's exact test and Mann-Whitney U test were used to compare patients with and without complications. A logistic regression model was used to select final predictor variables. Results Sixty two confirmed leptospirosis patients were included in the study. Seven patients (11.3%) developed acute renal failure and five (8.1%) developed myocarditis while three (4.8%) had both acute renal failure and myocarditis. Conjunctival suffusion - 40 (64.5%), muscle tenderness - 28 (45.1%), oliguria - 20 (32.2%), jaundice - 12 (19.3%), hepatomegaly - 10 (16.1%), arrhythmias (irregular radial pulse) - 8 (12.9%), chest pain - 6 (9.7%), bleeding - 5 (8.1%), and shortness of breath (SOB) 4 (6.4%) were the common clinical features present among the patients. Out of these, only oliguria {odds ratio (OR) = 4.14 and 95% confidence interval (CI) 1.003-17.261}, jaundice (OR = 5.13 and 95% CI 1.149-28.003), and arrhythmias (OR = 5.774 and 95% CI 1.001-34.692), were predictors of myocarditis or acute renal failure and none of the laboratory measures could predict the two complications. Conclusions This study shows that out of clinical and laboratory variables, only oliguria, jaundice and arrhythmia are strong predictors of development of acute renal failure or myocarditis in patients with leptospirosis presented to Teaching Hospital of Kandy, Sri Lanka. PMID:22243770

Clinical Features of Tuberculous Versus Crohn's Anal Fistulas, in Korea.

PubMed

Choi, Yong-Sung; Kim, Do-Sun; Lee, Jae-Bum; Kim, Jong-Kyu; Jung, Hyung-Joong; Lee, Seong-Dae; Song, Kee-Ho; Lee, Doo-Han; Kim, Mi-Jung

2015-12-01

In Western countries, tuberculous anal fistula may not be an issue because tuberculosis [TB] is not common, and this is a very rare form of extrapulmonary manifestation of TB. However in TB-endemic countries, careful diagnostic differentiation is required because the clinical features of TB anal fistula and Crohn's disease [CD] anal fistula are similar, with distinguishing features remaining unclear. We aimed to analyse the clinical features of TB versus CD anal fistulas. Among 13872 patients who underwent anal fistula surgery from 2003 to 2014, 87 patients with TB fistulas and 116 patients with CD fistulas were included. Data on the annual incidence of TB and CD, as well as the clinical, pathological, ultrasonographic, colonoscopic and surgical data were analysed. Compared with CD, the TB group was older [median: 37 vs 22 years] and underlying chronic illness was more common [20.3% vs 2.6%]. In the TB group, 46 patients [59.7%] showed active or inactive pulmonary TB, and acid-fast bacilli and caseating granuloma were found in 56.3% and 62.1%, respectively. During colonoscopy, mucosal lesions were observed more frequently in CD [96.9% vs 16.9%]. TB anal fistula is clinically very similar to CD anal fistula. In Korea, the incidence of CD anal fistula has recently increased in prevalence, whereas the prevalence of TB anal fistula is decreasing but is still persistent. We recommend that clinicians should prepare for a possibility of TB as well as CD anal fistula in TB-endemic countries including Korea. Copyright © 2015 European Crohn’s and Colitis Organisation (ECCO). Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.

Arrestin gene mutations in autosomal recessive retinitis pigmentosa.

PubMed

Nakazawa, M; Wada, Y; Tamai, M

1998-04-01

To assess the clinical and molecular genetic studies of patients with autosomal recessive retinitis pigmentosa associated with a mutation in the arrestin gene. Results of molecular genetic screening and case reports with DNA analysis and clinical features. University medical center. One hundred twenty anamnestically unrelated patients with autosomal recessive retinitis pigmentosa. DNA analysis was performed by single strand conformation polymorphism followed by nucleotide sequencing to search for a mutation in exon 11 of the arrestin gene. Clinical features were characterized by visual acuity slitlamp biomicroscopy, fundus examinations, fluorescein angiography, kinetic visual field testing, and electroretinography. We identified 3 unrelated patients with retinitis pigmentosa associated with a homozygous 1-base-pair deletion mutation in codon 309 of the arrestin gene designated as 1147delA. All 3 patients showed pigmentary retinal degeneration in the midperipheral area with or without macular involvement. Patient 1 had a sibling with Oguchi disease associated with the same mutation. Patient 2 demonstrated pigmentary retinal degeneration associated with a golden-yellow reflex in the peripheral fundus. Patients 1 and 3 showed features of retinitis pigmentosa without the golden-yellow fundus reflex. Although the arrestin 1147delA has been known as a frequent cause of Oguchi disease, this mutation also may be related to the pathogenesis of autosomal recessive retinitis pigmentosa. This phenomenon may provide evidence of variable expressivity of the mutation in the arrestin gene.

Identification of design features to enhance utilization and acceptance of systems for Internet-based decision support at the point of care.

PubMed Central

Gadd, C. S.; Baskaran, P.; Lobach, D. F.

1998-01-01

Extensive utilization of point-of-care decision support systems will be largely dependent on the development of user interaction capabilities that make them effective clinical tools in patient care settings. This research identified critical design features of point-of-care decision support systems that are preferred by physicians, through a multi-method formative evaluation of an evolving prototype of an Internet-based clinical decision support system. Clinicians used four versions of the system--each highlighting a different functionality. Surveys and qualitative evaluation methodologies assessed clinicians' perceptions regarding system usability and usefulness. Our analyses identified features that improve perceived usability, such as telegraphic representations of guideline-related information, facile navigation, and a forgiving, flexible interface. Users also preferred features that enhance usefulness and motivate use, such as an encounter documentation tool and the availability of physician instruction and patient education materials. In addition to identifying design features that are relevant to efforts to develop clinical systems for point-of-care decision support, this study demonstrates the value of combining quantitative and qualitative methods of formative evaluation with an iterative system development strategy to implement new information technology in complex clinical settings. Images Figure 1 PMID:9929188

Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract

PubMed Central

Vivante, Asaf; Hwang, Daw-Yang; Kohl, Stefan; Chen, Jing; Shril, Shirlee; Schulz, Julian; van der Ven, Amelie; Daouk, Ghaleb; Soliman, Neveen A.; Kumar, Aravind Selvin; Senguttuvan, Prabha; Kehinde, Elijah O.; Tasic, Velibor

2017-01-01

Congenital anomalies of the kidneys and urinary tract (CAKUT) are the leading cause of CKD in children, featuring a broad variety of malformations. A monogenic cause can be detected in around 12% of patients. However, the morphologic clinical phenotype of CAKUT frequently does not indicate specific genes to be examined. To determine the likelihood of detecting causative recessive mutations by whole-exome sequencing (WES), we analyzed individuals with CAKUT from 33 different consanguineous families. Using homozygosity mapping and WES, we identified the causative mutations in nine of the 33 families studied (27%). We detected recessive mutations in nine known disease–causing genes: ZBTB24, WFS1, HPSE2, ATRX, ASPH, AGXT, AQP2, CTNS, and PKHD1. Notably, when mutated, these genes cause multiorgan syndromes that may include CAKUT as a feature (syndromic CAKUT) or cause renal diseases that may manifest as phenocopies of CAKUT. None of the above monogenic disease–causing genes were suspected on clinical grounds before this study. Follow-up clinical characterization of those patients allowed us to revise and detect relevant new clinical features in a more appropriate pathogenetic context. Thus, applying WES to the diagnostic approach in CAKUT provides opportunities for an accurate and early etiology–based diagnosis and improved clinical management. PMID:27151922

Contrast-enhanced MRI compared with the physical examination in the evaluation of disease activity in juvenile idiopathic arthritis.

PubMed

Hemke, Robert; Maas, Mario; van Veenendaal, Mira; Dolman, Koert M; van Rossum, Marion A J; van den Berg, J Merlijn; Kuijpers, Taco W

2014-02-01

To assess the value of magnetic resonance imaging (MRI) in discriminating between active and inactive juvenile idiopathic arthritis (JIA) patients and to compare physical examination outcomes with MRI outcomes in the assessment of disease status in JIA patients. Consecutive JIA patients with knee involvement were prospectively studied using an open-bore MRI. Imaging findings from 146 JIA patients were analysed (59.6% female; mean age, 12.9 years). Patients were classified as clinically active or inactive. MRI features were evaluated using the JAMRIS system, comprising validated scores for synovial hypertrophy, bone marrow oedema, cartilage lesions and bone erosions. Inter-reader reliability was good for all MRI features (intra-class correlation coefficient [ICC] = 0.87-0.94). No differences were found between the two groups regarding MRI scores of bone marrow oedema, cartilage lesions or bone erosions. Synovial hypertrophy scores differed significantly between groups (P = 0.016). Nonetheless, synovial hypertrophy was also present in 14 JIA patients (35.9%) with clinically inactive disease. Of JIA patients considered clinically active, 48.6% showed no signs of MRI-based synovitis. MRI can discriminate between clinically active and inactive JIA patients. However, physical examination is neither very sensitive nor specific in evaluating JIA disease activity compared with MRI. Subclinical synovitis was present in >35% of presumed clinically inactive patients. • MRI is sensitive for evaluating juvenile idiopathic arthritis (JIA) disease activity. • Contrast-enhanced MRI can distinguish clinically active and inactive JIA patients. • Subclinical synovitis is present in 35.9 % of presumed clinically inactive patients. • Physical examination is neither sensitive nor specific in evaluating JIA disease activity.

Easily obtainable clinical features increase the diagnostic accuracy for latent autoimmune diabetes in adults: an evidence-based report.

PubMed

Lutgens, Maurice W M D; Meijer, Melanie; Peeters, Babette; Poulsen, Marie-Louise N F; Rutten, Marjet J; Bots, Michiel L; van der Heijden, Geert J M G; Soedamah-Muthu, Sabita S

2008-12-01

Latent autoimmune diabetes in adults (LADA) represents a subgroup of diabetes mellitus. LADA is characterised by adult-onset diabetes and circulating autoimmune antibodies. LADA patients may need a different therapeutic approach than the usual type 2 diabetes mellitus. When LADA is inadequately diagnosed as type 2 diabetes mellitus, LADA patients will mistakenly be exposed to a high dose of oral glucose lowering drugs and their possible side effects. To assess which clinical features predict the presence or absence of LADA in patients older than 25 years presenting with hyperglycemia. A structured Medline and Embase search was conducted. Titles and abstracts were screened using predetermined selection criteria. Critical appraisal was based on standardized validity criteria for diagnostic research. One-hundred and eighty-four papers were retrieved of which after assessment of relevance and validity 2 studies remained for further analysis. One study reported a probability of LADA of 0.99 with one or two out of the following five clinical features: age at onset <50 years; acute symptoms; BMI<25 kg/m(2); a history of autoimmune disease; a family history positive for diabetes mellitus. The other study reported a probability of LADA of zero with none of the following clinical features and of 0.32 with one out of three: fasting blood glucose> or =15 mmol/l and/or HbA(1c)> or =10%; 10% reduction in body weight in the previous 3 months; BMI<25 kg/m(2). Further testing for LADA by measurement of autoimmune antibodies appears to be unnecessary in the absence of a specific set of clinical features. Before initiating therapy applying the above criteria may help to separate LADA from usual type 2 diabetes.

Elements of the Veterans Health Administration Patient-Centered Medical Home are Associated with Greater Adherence to Oral Hypoglycemic Agents in Patients with Diabetes.

PubMed

Meo, Nicholas; Wong, Edwin; Sun, Haili; Curtis, Idamay; Batten, Adam; Fihn, Stephan D; Nelson, Karin

2018-04-01

In 2010, Veterans Health Administration (VHA) primary care clinics adopted a patient-centered medical home (PCMH) model. This study sought to examine the association between the organizational features related to adoption of PCMH and the level of adherence to oral hypoglycemic agents (OHAs) among patients with diabetes. This retrospective cohort study involved 757 VA clinics that provide primary care to 440,971 patients with diabetes who were taking OHAs in fiscal year 2012. One-year refill-based medication possession ratios (MPRs) were calculated at the patient level. Clinic-level adherence was defined as the proportion of clinics with MPR ≥80%. Risk adjustment of adherence was performed using logistic regression to account for differences in patient populations at clinics. Eight domains of the PCMH model (ie, access, continuity, coordination, teamwork, comprehensive care, self-management, communication, shared decision making) were assessed using items from a previously validated index. Multivariate linear regression was applied to identify PCMH components associated with clinic-level adherence. Patients with diabetes per clinic ranged from 100 to 5011. The average level of adherence to OHAs among clinics ranged from 52.8% to 61.9% (interquartile range = 57.9% to 59.4%). In multivariate analysis, organizational features associated with higher clinic-level adherence included access to routine care (standardized beta [Sβ] = .21, P = .004), having a respectful office staff (Sβ = 0.21, P = .002), and utilization of telephone encounters (Sβ = 0.23, P < .001). Among a national cohort of veterans with diabetes, overall PCMH implementation did not significantly increase adherence to oral hypoglycemic agents, although aspects of implementation were associated with increased adherence. Measures of access to care appear the most significant.

CLINICAL AND MORPHOLOGICAL CHARACTERISTICS OF THE CHRONIC GASTRITIS WITH FUNCTIONAL DYSPEPSIA IN THE REPUBLIC OF SAKHA (YAKUTIA).

PubMed

Avvakumova, N V; Chibyeva, L G; Vasiliev, N N

2015-01-01

Chronic gastritis with syndrome, functional dyspepsia (SFD) is one of the most pressing problems in medicine. Certain scientific and practical interest is the elucidation of the frequency and clinical manifestations of functional dyspepsia in patients hospitalized in the gastroenterology department YAGKB and frequency combinations of chronic gastritis (including H. pylori) with functional dyspepsia. The aim of the study was to investigate the clinical and morphological features of the chronic gastritis with syndrome pattern of functional dyspepsia in native-born and people of the Republic of Sakha (Yakutia), and to assess the effectiveness of treatment, depending on the gastric acid and H. pylori. This study examined 105 patients with functional dyspepsia, including 41 patients with epigastric pain syndrome and 64 patients with postprandial distress syndrome. Considered groups of patients were homogeneous for age, gender, by ethnicity. Of the 105 patients included in the study, I group were 57 indigenous people (80% of them--Yakutia), 11 group--48 people visiting (Caucasians). Clinical presentation and course of chronic gastritis with functional dyspepsia in the Republic of Sakha (Yakutia) have a number of distinctive features: epigastric pain syndrome occurs in 26.8% of patients and 73.2% of the indigenous population of the visitor, the intensity of pain in the root is much lower than that of visitors--12 and 85% respectively. Postprandial distress syndrome was diagnosed in 71.9% of patients and 28.1% of the indigenous newcomers. At endoscopy in all patients with functional dyspepsia diagnosed chronic gastritis. The native inhabitants of the most common mixed gastritis (54.5%), the newcomers--superficial gastritis (66.7%). The found features of a current of functional dyspepsia can be further the basis for the individualized and differentiated approaches to treatment of this disease.

No significant difference between chiari malformation type 1.5 and type I.

PubMed

Liu, Wei; Wu, Hongxing; Aikebaier, Yalikun; Wulabieke, Maoliti; Paerhati, Rexiti; Yang, Xiaopeng

2017-06-01

Chiari malformation Type 1.5 (CM 1.5) was defined as the association of Chiari malformation Type I (CM I) and brainstem herniation. The objective was to demonstrate the difference of clinical features and surgical outcomes between CM 1.5 and CM I. All CM 1.5 and CM I adult patients who underwent posterior fossa decompression with duraplasty at our institution between 2006 and 2010 were retrospectively reviewed. Clinical characteristics, imaging features, and long-term outcomes were compared between CM 1.5 and CM I patients. A total of 142 adult patients were enrolled, including 27 CM 1.5 and 115 CM I patients. The average follow-up period was 102 months. Age at diagnosis was significantly younger in CM 1.5 group than CM I group (p=0.039). And the degree of tonsillar herniation was significantly more severe in CM 1.5 group than CM I group (p<0.001). There was no significant difference in other clinical and imaging characteristics. Moreover, improvement of symptoms was observed in 21 CM 1.5 patients (77.8%) and 94 CM I patients (81.7%), and no significant difference was detected (p=0.637). There was no significant difference in the resolution of syringomyelia between CM 1.5 (72.7%) and CM I (76.5%) patients, either (p=0. 710). Although CM 1.5 patients presented with brainstem herniation and more severe tonsillar herniation, other clinical and imaging features and surgical outcomes were similar with CM I patients. We think CM 1.5 is just a subtype of CM I, rather than a unique type of Chiari malformations. Copyright © 2017 Elsevier B.V. All rights reserved.

Quantification of intra-tumour cell proliferation heterogeneity using imaging descriptors of 18F fluorothymidine-positron emission tomography

NASA Astrophysics Data System (ADS)

Willaime, J. M. Y.; Turkheimer, F. E.; Kenny, L. M.; Aboagye, E. O.

2013-01-01

Intra-tumour heterogeneity is a characteristic shared by all cancers. We explored the use of texture variables derived from images of [18F]fluorothymidine-positron emission tomography (FLT-PET), thus notionally assessing the heterogeneity of proliferation in individual tumours. Our aims were to study the range of textural feature values across tissue types, verify the repeatability of these image descriptors and further, to explore associations with clinical response to chemotherapy in breast cancer patients. The repeatability of 28 textural descriptors was assessed in patients who had two FLT-PET scans prior to therapy using relative differences and the intra-class correlation coefficient (ICC). We tested associations between features at baseline and clinical response measured in 11 patients after three cycles of chemotherapy, and explored changes in FLT-PET at one week after the start of therapy. A subset of eight features was characterized by low variations at baseline (<±30%) and high repeatability (0.7 ≤ ICC ≤ 1). The intensity distribution profile suggested fewer highly proliferating cells in lesions of non-responders compared to responders at baseline. A true increase in CV and homogeneity was measured in four out of six responders one week after the start of therapy. A number of textural features derived from FLT-PET are altered following chemotherapy in breast cancer, and should be evaluated in larger clinical trials for clinical relevance.

[Hepatic alterations in patients with dengue].

PubMed

Larreal, Yraima; Valero, Nereida; Estévez, Jesús; Reyes, Ivette; Maldonado, Mery; Espina, Luz Marina; Arias, Julia; Meleán, Eddy; Añez, German; Atencio, Ricardo

2005-06-01

Clinical features of Dengue are very variable due to multiple alterations induced by the virus in the organism. Increased levels of transaminases similar to those produced by the Hepatitis virus have been reported in patients with Dengue from hiperendemic zones in Asia. The objectives of this study were to determine alterations in the liver tests in patients with Dengue and to relate them to the disease, clinically and serologically. Clinical history, hemathological tests serum transaminases (ALT y AST) and bilirubin assays were performed in 62 patients with clinical and serological diagnosis of Dengue. According to clinical features 38.7% of the patients with classical (CD) and hemorrhagic (DHF) forms of Dengue reffered abdominal pain and 2 patients with DHF had ictericia and hepatomegaly. Laboratory test findings showed leucopenia in 72.5% in both forms of Dengue and of patients with DHF severe thrombocytopenia (< 50.000 platelets x mm3), long PT and PPT in 70.9%, 23.0% and 42.3%, respectively. Transaminase values five fold higher than the normal values (p < 0.005) were observed in 36.8% and 74.4% of patients with CD and DHF respectively; AST was predominant in both groups. Our results suggest liver damage during the course of Dengue. A differential diagnosis has to be done between the hepatic involvement of Dengue cases and others viral diseases with hepatic disfunctions.

Coronary heart disease in the diabetic African: frequency clinical and angiographic features.

PubMed

Touze, J E; Ekra, A; Darracq, R; Mardelle, T; Adoh, A; Ake, E; Chauvet, J; Bertrand, E

1987-01-01

The frequency and clinical and coronarographic features of coronary heart disease (CHD) in black African diabetic patients were assessed in a two-part study. The aim of part I was to determine the frequency of CHD in 50 diabetic patients selected by the following criteria: male, age between 40 and 60 years, diabetes history less than 20 years, no history of CHD and normal E.K.G. All 50 of these patients underwent a stress test and those who failed or for whom results were inconclusive were submitted to coronary arteriography. Part II was a retrospective study of 104 patients with CHD. Its aim was to compare the clinical and coronarographic features of CHD patients with (27 cases) and without (77 cases) diabetes mellitus. The frequency of CHD in the 50 diabetics selected for this study was 10% (31 negative exercise tests, 19 inconclusive exercise tests, 5 coronary arteriographies with significant narrowing). Of these 5 diabetics with CHD, 3 had single vessel involvement (left descending artery: 2 cases, circumflex artery: 1 case), 1 patient had double vessel involvement (right coronary circumflex artery) and 1 had triple vessel involvement (left descending, circumflex, and right coronary artery). In the retrospective study the clinical profile of the diabetic and non-diabetic CHD patients was the same with respect to sex, age, angina, myocardial infarction, and death rate. As regard the risk factors, blood cholesterol level was higher in diabetics while cigarette smoking was higher in non-diabetics. The frequency of hypertension was the same in both groups.(ABSTRACT TRUNCATED AT 250 WORDS)

Cotard's Syndrome in a Patient with Schizophrenia: Case Report and Review of the Literature

PubMed Central

Ledesma-Gastañadui, Mario

2016-01-01

Jules Cotard described, in 1880, the case of a patient characterized by delusions of negation, immortality, and guilt as well as melancholic anxiety among other clinical features. Later this constellation of symptoms was given the eponym Cotard's syndrome, going through a series of theoretical vicissitudes, considering itself currently as just the presence of nihilistic delusions. The presentation of the complete clinical features described by Cotard is a rare occurrence, especially in the context of schizophrenia. Here we present the case of a 50-year-old male patient with schizophrenia who developed Cotard's syndrome. The patient was treated with aripiprazole, showing improvement after two weeks of treatment. A review of the literature is performed about this case. PMID:28053798

Cotard's Syndrome in a Patient with Schizophrenia: Case Report and Review of the Literature.

PubMed

Huarcaya-Victoria, Jeff; Ledesma-Gastañadui, Mario; Huete-Cordova, Maria

2016-01-01

Jules Cotard described, in 1880, the case of a patient characterized by delusions of negation, immortality, and guilt as well as melancholic anxiety among other clinical features. Later this constellation of symptoms was given the eponym Cotard's syndrome, going through a series of theoretical vicissitudes, considering itself currently as just the presence of nihilistic delusions. The presentation of the complete clinical features described by Cotard is a rare occurrence, especially in the context of schizophrenia. Here we present the case of a 50-year-old male patient with schizophrenia who developed Cotard's syndrome. The patient was treated with aripiprazole, showing improvement after two weeks of treatment. A review of the literature is performed about this case.

Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation.

PubMed

Capalbo, Donatella; Scala, Maria Giuseppa; Melis, Daniela; Minopoli, Giorgia; Improda, Nicola; Palamaro, Loredana; Pignata, Claudio; Salerno, Mariacarolina

2012-09-20

Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2. It is characterized by features reminiscent of Noonan syndrome. Ectodermal involvement, short stature associated to growth hormone (GH) deficiency (GHD), and cognitive deficits are common features. We compare in two patients with molecularly confirmed NS/LAH diagnosis, the clinical phenotype and pathogenetic mechanism underlying short stature. In particular, while both the patients exhibited a severe short stature, GH/IGFI axis functional evaluation revealed a different pathogenetic alteration, suggesting in one patient an upstream alteration (typical GHD) and in the other one a peripheral GH insensitivity.

Clinical and prognostic significance of muscle biopsy in sarcoidosis.

PubMed

Yanardag, Halil; Tetikkurt, Cuneyt; Bilir, Muammer

2018-04-30

The main objective of this study was to evaluate the influence of muscle involvement on the clinical features, prognostic outcome, extrapulmonary organ, and endobronchial involvement in sarcoidosis patients. The second aim was to assess the diagnostic yield of muscle biopsy for the histopathologic identification of sarcoidosis.  Fifty sarcoidosis patients participated in the study. The patients were classified into two groups according to the histopathologic presence of non-caseating granulomatous inflammatory pattern of the muscle biopsy samples and were evaluated retrospectively in regard to clinical features, prognosis, extrapulmonary, and endobronchial disease involvement. Pathologic examination of the muscle biopsy samples revealed non-caseating granulomas in eighteen and myositis in seven patients compatible with sarcoidosis. The diagnostic yield of muscle biopsy for demonstrating non-caseating granulomatous inflammation was fifty percent. Patients with muscle sarcoidosis showed a worse prognosis and a more severe extrapulmonary organ involvement than the patients without muscle disease. Muscle biopsy was not statistically significant to delineate diffuse endobronchial involvement while it was suggestive for endobronchial disease clinically. The results of our study reveal that muscle biopsy appears to be a useful diagnostic tool along with its safety and easy clinical applicability. It is a rewarding utility to predict the prognostic outcome and extrapulmonary involvement in sarcoidosis patients. Positive biopsy on the other hand confirms the identification of sarcoidosis in patients with single organ involvement carrying an equivocal diagnostic clinical pattern. Muscle biopsy may be considered as the initial step for the final diagnosis of sarcoidosis in such cases.

Lupus erythematosus tumidus: a clinical and histological study of 25 cases.

PubMed

Rodriguez-Caruncho, C; Bielsa, I; Fernández-Figueras, M T; Roca, J; Carrascosa, J M; Ferrándiz, C

2015-06-01

Lupus erythematosus tumidus (LET) is a subtype of cutaneous lupus erythematosus (CLE) that has been well characterized in recent years. However, some controversy still remains concerning the histological features of epidermal involvement. The objective of this report is to describe the clinical and microscopic features of LET in patients diagnosed at Hospital Universitari Germans Trias i Pujol, Spain. We conducted a retrospective study of 25 patients with a diagnosis of LET. All patients presented with typical LET lesions (smooth, erythematous plaques without macroscopic epidermal changes, such as follicular plugs or scale, that resolved without residual scarring or hypopigmentation). None of the patients fulfilled the criteria for systemic lupus erythematosus during follow-up. Test results for antinuclear antibodies were positive in five patients (20%), with titres below one of 320 in all cases. Twenty-two patients (88%) required antimalarial therapy; response was good in 70% and moderate response in 30%. Minor epidermal alterations were observed in 52% of biopsy specimens, with focal basal vacuolization being the most frequent. LET is a variant of CLE that has distinctive clinical, histologic and prognostic features. Unlike the patients in the case series previously described in the literature, most of our patients required treatment with antimalarials. Histology revealed mild epidermal alterations in a significant percentage of patients. Thus, in our opinion, the absence of microscopic epidermal alterations is not constant in LET. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Management of dengue in Australian travellers: a retrospective multicentre analysis.

PubMed

Tai, Alex Yc; McGuinness, Sarah L; Robosa, Roselle; Turner, David; Huang, G Khai Lin; Leder, Karin; Korman, Tony M; Thevarajan, Irani; Stewardson, Andrew J; Padiglione, Alexander A; Johnson, Douglas F

2017-04-17

To describe the epidemiology, clinical and laboratory features and outcomes of dengue in returned Australian travellers, applying the revised WHO dengue classification (2009) to this population. Retrospective case series analysis of confirmed dengue cases hospitalised at one of four Australian tertiary hospitals, January 2012 - May 2015. Clinical features, laboratory findings and outcomes of patients with dengue; dengue classification according to 2009 WHO guidelines. 208 hospitalised patients (median age, 32 years; range, 4-76 years) were included in the study. Dengue was most frequently acquired in Indonesia (94 patients, 45%) and Thailand (40, 19%). The most common clinical features were fever (98% of patients) and headache (76%). 84 patients (40%) met the WHO criteria for dengue with warning signs, and one the criteria for severe dengue; the most common warning signs were mucosal bleeding (44 patients, 21%) and abdominal pain (43, 21%). Leukopenia (176 patients, 85%), thrombocytopenia (133, 64%), and elevated liver enzyme levels (154, 76%) were the most common laboratory findings. 46 patients (22%) had serological evidence of previous exposure to dengue virus. WHO guidelines were documented as a management benchmark in ten cases (5%); 46 patients (22%) received non-steroidal anti-inflammatory drugs (NSAIDs). A significant proportion of returning Australian travellers hospitalised for dengue have unrecognised warning signs of severe disease. Many received NSAIDs, which can increase the risk of haemorrhage in dengue. As travel to Asia from Australia continues to increase, it is vital for averting serious outcomes that clinicians can recognise and manage dengue.

Chronic hepatitis B virus infection in Sjögren's syndrome. Prevalence and clinical significance in 603 patients.

PubMed

Marcos, Miguel; Alvarez, Fausto; Brito-Zerón, Pilar; Bove, Albert; Perez-De-Lis, Marta; Diaz-Lagares, Candido; Sanchez-Tapias, Jose-Maria; Ramos-Casals, Manuel

2009-06-01

To analyze the prevalence and clinical characteristics of chronic hepatitis B virus (HBV) infection in a large series of patients with Sjögren syndrome (SS). We investigated the prevalence of chronic HBV infection in 603 consecutive patients with SS diagnosed in our department between 1994 and 2008. There were 517 patients with primary SS (482 women and 35 men, with a mean age at the time of fulfillment of the classification criteria of 57 years) and 86 patients with SS associated with chronic HCV infection (66 women and 20 men, with a mean age at the time of fulfillment of the classification criteria of 65 years). All patients fulfilled 4 or more of the 1993 European Community Study Group criteria for SS. The presence of HBsAg+ was detected in five (0.83%) of the 603 patients with SS. All HBsAg+ patients had primary SS. No patient with HCV-related SS had HBV coinfection. There were 4 women and 1 man, with a mean age at diagnosis of primary SS of 65 years (range 31 to 89 years). All patients showed sicca and systemic involvement. The main extraglandular feature was articular involvement in 5 (100%) patients (including arthritis in two). The main immunologic features were RF in 4 (80%) patients and ANA in 3 (60%). No patient had hypocomplementemia, cryoglobulinemia, antimitochondrial or anti-LKM1 antibodies. Liver involvement was detected in two patients and consisted of slightly raised levels of transaminases. No patient showed clinical manifestations of liver disease such as hepatomegaly, splenomegaly, jaundice or clinical features of hepatic decompensation (ascites, encephalopathy or gastrointestinal bleeding). We found a prevalence of chronic HBV infection of 0.83% in SS, very similar to the prevalence in general population in Spain (0.7%). In contrast to the close association between SS and HCV, chronic HBV infection is not associated with SS in our geographical area, with a ratio SS-HBV/SS-HCV cases of 1:10.

Could texture features from preoperative CT image be used for predicting occult peritoneal carcinomatosis in patients with advanced gastric cancer?

PubMed

Kim, Hae Young; Kim, Young Hoon; Yun, Gabin; Chang, Won; Lee, Yoon Jin; Kim, Bohyoung

2018-01-01

To retrospectively investigate whether texture features obtained from preoperative CT images of advanced gastric cancer (AGC) patients could be used for the prediction of occult peritoneal carcinomatosis (PC) detected during operation. 51 AGC patients with occult PC detected during operation from January 2009 to December 2012 were included as occult PC group. For the control group, other 51 AGC patients without evidence of distant metastasis including PC, and whose clinical T and N stage could be matched to those of the patients of the occult PC group, were selected from the period of January 2011 to July 2012. Each group was divided into test (n = 41) and validation cohort (n = 10). Demographic and clinical data of these patients were acquired from the hospital database. Texture features including average, standard deviation, kurtosis, skewness, entropy, correlation, and contrast were obtained from manually drawn region of interest (ROI) over the omentum on the axial CT image showing the omentum at its largest cross sectional area. After using Fisher's exact and Wilcoxon signed-rank test for comparison of the clinical and texture features between the two groups of the test cohort, conditional logistic regression analysis was performed to determine significant independent predictor for occult PC. Using the optimal cut-off value from receiver operating characteristic (ROC) analysis for the significant variables, diagnostic sensitivity and specificity were determined in the test cohort. The cut-off value of the significant variables obtained from the test cohort was then applied to the validation cohort. Bonferroni correction was used to adjust P value for multiple comparisons. Between the two groups, there was no significant difference in the clinical features. Regarding the texture features, the occult PC group showed significantly higher average, entropy, standard deviation, and significantly lower correlation (P value < 0.004 for all). Conditional logistic regression analysis demonstrated that entropy was significant independent predictor for occult PC. When the cut-off value of entropy (> 7.141) was applied to the validation cohort, sensitivity and specificity for the prediction of occult PC were 80% and 90%, respectively. For AGC patients whose PC cannot be detected with routine imaging such as CT, texture analysis may be a useful adjunct for the prediction of occult PC.

Clinical Features of Pregnancy-associated Retinal and Choroidal Diseases Causing Acute Visual Disturbance.

PubMed

Park, Young Joo; Park, Kyu Hyung; Woo, Se Joon

2017-08-01

To report clinical features of patients with retinal and choroidal diseases presenting with acute visual disturbance during pregnancy. In this retrospective case series, patients who developed acute visual loss during pregnancy (including puerperium) and visited a tertiary hospital from July 2007 to June 2015, were recruited by searching electronic medical records. Patients were categorized according to the cause of visual loss. Clinical features and required diagnostic modalities were analyzed in the retinal and choroidal disease group. Acute visual loss occurred in 147 patients; 49 (38.9%) were classified into the retinal and choroidal group. The diagnoses included central serous chorioretinopathy (22.4%), hypertensive retinopathy with or without pre-eclampsia (22.4%), retinal tear with or without retinal detachment (18.4%), diabetic retinopathy progression (10.2%), Vogt-Koyanagi-Harada disease (4.1%), retinal artery occlusion (4.1%), multiple evanescent white dot syndrome (4.1%), and others (14.3%). Visual symptoms first appeared at gestational age 25.9 ± 10.3 weeks. The initial best-corrected visual acuity (BCVA) was 0.27 ± 0.39 logarithm of the minimum angle of resolution (logMAR); the final BCVA after delivery improved to 0.13 ± 0.35 logMAR. Serious visual deterioration (BCVA worth than 20 / 200) developed in two patients. Differential diagnoses were established with characteristic fundus and spectral-domain optical coherence tomography findings in all cases. In pregnant women with acute visual loss, retinal and choroidal diseases are common and could be vision threatening. Physicians should be aware of pregnancy-associated retinal and choroidal diseases and their clinical features. The differential diagnosis can be established with non-invasive techniques. © 2017 The Korean Ophthalmological Society

Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research

PubMed Central

Cao, Binbin; Yan, Huifang; Guo, Mangmang; Xie, Han; Wu, Ye; Gu, Qiang; Xiao, Jiangxi; Shang, Jing; Yang, Yanling; Xiong, Hui; Niu, Zhengping; Wu, Xiru; Jiang, Yuwu; Wang, Jingmin

2016-01-01

Objective Megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIM 604004) is a rare neurological deterioration disease. We aimed to clarify clinical and genetic features of Chinese MLC patients. Methods Clinical information and peripheral venous blood of 20 patients and their families were collected, Sanger-sequencing and Multiple Ligation-dependent Probe Amplification were performed to make genetic analysis. Splicing-site mutation was confirmed with RT-PCR. UPD was detected by haplotype analysis. Follow-up study was performed through telephone for 27 patients. Results Out of 20 patients, macrocephaly, classic MRI features, motor development delay and cognitive impairment were detected in 20(100%), 20(100%), 17(85%) and 4(20%) patients, respectively. 20(100%) were clinically diagnosed with MLC. 19(95%) were genetically diagnosed with 10 novel mutations in MLC1, MLC1 and GlialCAM mutations were identified in 15 and 4 patients, respectively. Deletion mutation from exon4 to exon9 and a homozygous point mutation due to maternal UPD of chromosome22 in MLC1 were found firstly. c.598-2A>C in MLC1 leads to the skip of exon8. c.772-1G>C in MLC1 accounting for 15.5%(9/58) alleles in Chinese patients might be a founder or a hot-spot mutation. Out of 27 patients in the follow-up study, head circumference was ranged from 56cm to 61cm in patients older than 5yeas old, with a median of 57cm. Motor development delay and cognitive impairment were detected in 22(81.5%) and 5(18.5%) patients, respectively. Motor and cognitive deterioration was found in 5 (18.5%) and 2 patients (7.4%), respectively. Improvements and MRI recovery were first found in Chinese patients. Rate of seizures (45.5%), transient motor retrogress (45.5%) and unconsciousness (13.6%) after head trauma was much higher than that after fever (18.2%, 9.1%, 0%, respectively). Significance It’s a clinical and genetic analysis and a follow-up study for largest sample of Chinese MLC patients, identifying 10 novel mutations, expanding mutation spectrums and discovering clinical features of Chinese MLC patients. PMID:27322623

Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 – qter, autism spectrum disorder and unusual features

PubMed Central

Al-Sarraj, Yasser; Al-Khair, Hakam Abu; Taha, Rowaida Ziad; Khattab, Namat; El Sayed, Zakaria H; Elhusein, Bushra; El-Shanti, Hatem

2014-01-01

Key Clinical Message We report on a patient with distal trisomy 10q syndrome presenting with a few previously undescribed physical features, as well as, autism spectrum disorder (ASD). We recommend that patients with distal trisomy 10q syndrome should have a behavioral evaluation for ASD for the early institution of therapy. PMID:25614812

Relationship between atypical depression and social anxiety disorder.

PubMed

Koyuncu, Ahmet; Ertekin, Erhan; Ertekin, Banu Aslantaş; Binbay, Zerrin; Yüksel, Çağrı; Deveci, Erdem; Tükel, Raşit

2015-01-30

In this study, we aimed to investigate the effects of atypical and non-atypical depression comorbidity on the clinical characteristics and course of social anxiety disorder (SAD). A total of 247 patients with SAD were enrolled: 145 patients with a current depressive episode (unipolar or bipolar) with atypical features, 43 patients with a current depressive episode with non-atypical features and 25 patients without a lifetime history of depressive episodes were compared regarding sociodemographic and clinical features, comorbidity rates, and severity of SAD, depression and functional impairment. Thirty four patients with a past but not current history of major depressive episodes were excluded from the comparisons. 77.1% of current depressive episodes were associated with atypical features. Age at onset of SAD and age at initial major depressive episode were lower in the group with atypical depression than in the group with non-atypical depression. History of suicide attempts and bipolar disorder comorbidity was more common in the atypical depression group as well. Atypical depression group has higher SAD and depression severity and lower functionality than group with non-atypical depression. Our results indicate that the presence of atypical depression is associated with more severe symptoms and more impairment in functioning in patients with SAD. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: review of literature in comparison with juvenile idiopathic arthritis.

PubMed

Ekbote, Alka V; Danda, Debashish; Kumar, Sathish; Danda, Sumita; Madhuri, Vrisha; Gibikote, Sridhar

2013-06-01

Progressive-psuedorheumatoid-arthropathy of childhood (PPAC) is an autosomal recessive single gene skeletal dysplasia involving joints. The gene attributed to its cause is WNT1-inducible-signaling pathway protein3 (WISP3). To study the clinical and radiographic presentation of PPAC in Indian patients and to compare with described features of PPAC and Juvenile Idiopathic Arthritis (JIA) from published literature. All cases (n = 14) of PPAC seen in the Rheumatology and Clinical Genetics outpatient clinic between 2008 and 2011 with classical, clinical, and radiological features were studied. The demographic and clinical data were obtained from medical records of the outpatient visits. Slight female preponderance (57%) and history of consanguinity in parents (43%) was observed in this group. The median age at onset was 4.5 years (range from birth to 9 years of age). Early presentation below the age of 3 years was seen in 3/14 patients (21%) in this group. The growth of all the patients fell below the 3rd percentile for the age. Historically, hip joint involvement was the most common presenting feature; however, elbow, wrist, knees, feet, spine, shoulder joints and small joints, namely proximal interphalangeal (PIP), distal interphalangeal (DIP), metacarpophalangeal (MCP), metatarsophalangeal joints (MTP), and interphalangeal joints (IP) of the feet, were also involved, either clinically or radiologically in varying proportions. Platyspondyly was noted in all. Molecular analysis of the WISP3 gene identified mutations in all the 5 individuals in whom it was done. This descriptive case series of PPAC from India reports distinctly differentiating clinical, radiological, and molecular markers in contrast with classically described features of JIA, its mimic. Early presentation (age of onset below 3 years) with involvement of interphalangeal joints seen in three patients (21%) was a unique finding, with missense WISP3 gene mutations in all of them. Timely diagnosis of this entity can spare the patient from unnecessary investigations and toxic medications. Copyright © 2013 Elsevier Inc. All rights reserved.

Hereditary myopathies with early respiratory insufficiency in adults.

PubMed

Naddaf, Elie; Milone, Margherita

2017-11-01

Hereditary myopathies with early respiratory insufficiency as a predominant feature of the clinical phenotype are uncommon and underestimated in adults. We reviewed the clinical and laboratory data of patients with hereditary myopathies who demonstrated early respiratory insufficiency before the need for ambulatory assistance. Only patients with disease-causing mutations or a specific histopathological diagnosis were included. Patients with cardiomyopathy were excluded. We identified 22 patients; half had isolated respiratory symptoms at onset. The diagnosis of the myopathy was often delayed, resulting in delayed ventilatory support. The most common myopathies were adult-onset Pompe disease, myofibrillar myopathy, multi-minicore disease, and myotonic dystrophy type 1. Single cases of laminopathy, MELAS (mitochondrial encephalomyopathy with lactic acidosis and strokelike events), centronuclear myopathy, and cytoplasmic body myopathy were identified. We highlighted the most common hereditary myopathies associated with early respiratory insufficiency as the predominant clinical feature, and underscored the importance of a timely diagnosis for patient care. Muscle Nerve 56: 881-886, 2017. © 2017 Wiley Periodicals, Inc.

HLA-B27 and clinical features of acute anterior uveitis in Cuba.

PubMed

Torres, Sylvia; Borges, Sandra; Artiles, Adriana

2013-04-01

There are few data about the epidemiology of acute anterior uveitis (AAU) from Latin America. In Cuba, the genetic admixture of the population could modify the HLA-B27-AAU association. In this study, the authors compared the distribution of the HLA-B27 allele in patients and controls and described some clinical outcomes. The clinical features of patients were collected from their medical records. HLA-B27 genotyping was performed using the polymerase chain reaction. HLA-B27 allele distribution was compared between patients and controls. HLA-B27 allele was present in 55.4% of the patients and 0.87% of the controls. AAU HLA-B27 positivity was associated with males, frequent episodes, and a systemic disease. There is no difference in ocular complications between HLA-B27-positive and -negative patients. Results from this study are similar to data described in other countries. HLA-B27 allele distribution in controls is lower than other reports in Caucasian populations.

Clinical Parameters and Outcomes in Periorbital Necrotizing Fasciitis.

PubMed

Wladis, Edward J; Levin, Flora; Shinder, Roman

2015-01-01

To describe the clinical features associated with periorbital necrotizing fasciitis and to correlate these features with clinical outcomes. The case logs of 3 surgeons were used to identify cases of necrotizing fasciitis. Chart reviews were performed to characterize clinical metrics, and statistical analyses were performed. Seventeen patients (9 males, 8 females; mean age = 48.1 years, standard deviation = 22.6 years) were identified with periorbital necrotizing fasciitis. Of these patients, 52.9% did not have immunodeficiencies, and 52.9% did not have antecedent trauma or infected facial lesions. One patient died from necrotizing fasciitis. A history of immunosuppression correlated with the requirement for exenteration, but did not correlate visual acuity of worse than 20/40 upon discharge from the hospital. Most of the patients (68.75%) were discharged with visual acuity of better than 20/40 in the affected eye. This study represents the largest case series of patients with periorbital necrotizing fasciitis. Most of the patients in this series did not have immunodeficiencies, and the majority were discharged with favorable visual acuities. Nonetheless, a history of immunosuppression correlated with the need for exenteration, but was not statistically linked with worse visual outcomes.

Elderly patients and inflammatory bowel disease

PubMed Central

Nimmons, Danielle; Limdi, Jimmy K

2016-01-01

The incidence and prevalence of inflammatory bowel disease (IBD) is increasing globally. Coupled with an ageing population, the number of older patients with IBD is set to increase. The clinical features and therapeutic options in young and elderly patients are comparable but there are some significant differences. The wide differential diagnosis of IBD in elderly patients may result in a delay in diagnosis. The relative dearth of data specific to elderly IBD patients often resulting from their exclusion from pivotal clinical trials and the lack of consensus guidelines have made clinical decisions somewhat challenging. In addition, age specific concerns such as co-morbidity; loco-motor and cognitive function, poly-pharmacy and its consequences need to be taken into account. In applying modern treatment paradigms to the elderly, the clinician must consider the potential for more pronounced adverse effects in this vulnerable group and set appropriate boundaries maximising benefit and minimising harm. Meanwhile, clinicians need to make personalised decisions but as evidence based as possible in the holistic, considered and optimal management of IBD in elderly patients. In this review we will cover the clinical features and therapeutic options of IBD in the elderly; as well as addressing common questions and challenges posed by its management. PMID:26855812

A CLINICAL STUDY OF 276 PATIENTS DIAGNOSED AS SUFFERING FROM HYSTERIA

PubMed Central

Subramanian, Deepa; Subramanian, K.; Devaky, M. N.; Verghese, Abraham

1980-01-01

SUMMARY A clinical study of 276 patients diagnosed as Hysteria in the Department of Psychiatry, Unit-2, Christian Medical College, Vellore, during the period of 1970—1974 is described. This group of 276 patients formed 10.81% of the total new consultations during this period. 61.2% of these were females. The peak age of onset was 10-20 years. The majority were married. 75% of them had conversion symptoms, 20.3% had dissociative states, and 4.7% had both features. 52.5% showed possible precipitating factors. 66.0% h i d features of extraversion in their personality make up. 14.1% showed evidence of parental deprivation. There was over-representation of the early born. Somatic symptoms (aches and pains) was the most common mode of presentation. The other common clinical manifestations were fainting attacks, “fits”, vomiting, involuntary movements and paralysis of limbs. The immediate follow up showed that 11 patients recovered, 120 improved, 3 were unchanged and 1 patient became worse. Only 93 patients could be contacted for the final follow up. Among these, 28 recovered completely; 50 were improved; 2 became worse and 2 died. It is emphasized that Hysteria continues to remain a clinical entity. PMID:22058441

Noonan syndrome - a new survey.

PubMed

Tafazoli, Alireza; Eshraghi, Peyman; Koleti, Zahra Kamel; Abbaszadegan, Mohammadreza

2017-02-01

Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway are responsible for NS and other related disorders. Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients. Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. Age-specific guidelines for the management of NS are available.

Noonan syndrome – a new survey

PubMed Central

Tafazoli, Alireza; Eshraghi, Peyman; Koleti, Zahra Kamel

2016-01-01

Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway are responsible for NS and other related disorders. Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients. Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. Age-specific guidelines for the management of NS are available. PMID:28144274

Medical home characteristics and the pediatric patient experience.

PubMed

Burnet, Deborah; Gunter, Kathryn E; Nocon, Robert S; Gao, Yue; Jin, Janel; Fairchild, Paige; Chin, Marshall H

2014-11-01

The patient-centered medical home (PCMH) has roots in pediatrics, yet we know little about the experience of pediatric patients in PCMH settings. To examine the association between clinic PCMH characteristics and pediatric patient experience as reported by parents. We assessed the cross-sectional correlation between clinic PCMH characteristics and pediatric patient experience in 24 clinics randomly selected from the Safety Net Medical Home Initiative, a 5-state PCMH demonstration project. PCMH characteristics were measured with surveys of randomly selected providers and staff; surveys generated 0 (worst) to 100 (best) scores for 5 subscales, and a total score. Patient experience was measured through surveying parents of pediatric patients. Questions from the Consumer Assessment of Healthcare Providers and Systems-Clinician and Group instrument produced 4 patient experience measures: timeliness, physician communication, staff helpfulness, and overall rating. To investigate the relationship between PCMH characteristics and patient experience, we used generalized estimating equations with an exchangeable correlation structure. We included 440 parents and 214 providers and staff in the analysis. Total PCMH score was not associated with parents' assessment of patient experience; however, PCMH subscales were associated with patient experience in different directions. In particular, quality improvement activities undertaken by clinics were strongly associated with positive ratings of patient experience, whereas patient care management activities were associated with more negative reports of patient experience. Future work should bolster features of the PCMH that work well for patients while investigating which PCMH features negatively impact patient experience, to yield a better patient experience overall.

Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations

PubMed Central

Gunduz, Mehmet

2016-01-01

Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation. Follow-up periods were 3.5 years and 1 year in the patients. Case I was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems. Ophthalmologic examination suggested septooptic dysplasia. Cranial magnetic resonance imaging (MRI) showed nonspecific gliosis at subcortical and periventricular deep white matter. Case II was 2.5-year-old girl referred for investigation of global developmental delay and elevated liver enzymes. Ophthalmologic examination findings were consistent with bilateral nystagmus and retinitis pigmentosa. Cranial MRI was normal. Dysmorphic facial features including broad nasal root, low set ears, downward slanting eyes, downward slanting eyebrows, and epichantal folds were common findings in two patients. Molecular genetic analysis indicated homozygous novel IVS1-2A>G mutation in Case I and homozygous p.G843D (c.2528G>A) mutation in Case II in the PEX1 gene. Clinical findings and developmental prognosis vary in PEX1 gene mutation. Kabuki-like phenotype associated with liver pathology may indicate Zellweger spectrum disorders (ZSD). PMID:27882258

Histological features of localized scleroderma 'en coup de sabre': a study of 16 cases.

PubMed

Taniguchi, T; Asano, Y; Tamaki, Z; Akamata, K; Aozasa, N; Noda, S; Takahashi, T; Ichimura, Y; Toyama, T; Sugita, M; Sumida, H; Kuwano, Y; Miyazaki, M; Yanaba, K; Sato, S

2014-12-01

Early lesions of localized scleroderma are histologically characterized by perivascular lymphocytic infiltrate in the reticular dermis and swollen endothelial cells. However, there have been few information regarding histological features other than these findings in localized scleroderma. Since en coup de sabre (ECDS) is a certain subset of localized scleroderma with a relatively uniform clinical manifestation, we focused on this disease subset and evaluated its histopathological features. A total of 16 patients with ECDS were retrospectively evaluated on the basis of clinical and histological findings. Regardless of clinical manifestations, vacuolar degeneration was found in all of the ECDS patients. Importantly, keratinocyte necroses were restricted to early and active ECDS lesions. In early ECDS patients (disease duration of <3 years), moderate to severe perivascular and/or periappendageal lymphocytic infiltrate and vacuolar changes in follicular epithelium were more prominent, whereas epidermal atrophy was less frequently observed, than in late ECDS patients (disease duration of ≥6 years). Vacuolar degeneration at the dermoepidermal junction is a common histological feature in ECDS and perivascular and/or periappendageal lymphocytic infiltrate and vacuolar degeneration of follicular epithelium are characteristic especially in early ECDS, further supporting a canonical idea that the elimination of mutated epidermal cells by immune surveillance contributes to tissue damage and resultant fibrosis in localized scleroderma. © 2013 European Academy of Dermatology and Venereology.

Electroconvulsive therapy in treatment-resistant schizophrenia: prediction of response and the nature of symptomatic improvement.

PubMed

Chanpattana, Worrawat; Sackeim, Harold A

2010-12-01

The clinical features of patients with schizophrenia who respond to electroconvulsive therapy (ECT) are uncertain. There is a longstanding belief that the duration of illness and/or the presence of affective symptoms associate with good prognosis. There is also little information on the nature of symptomatic improvement with this treatment. We examined the demographic and clinical history features associated with response, the symptom profile predictive of response, and the profile of symptomatic improvement. Using a standardized protocol, 253 patients with treatment-resistant schizophrenia were prospectively treated with a combination of ECT and flupenthixol. Of this group, 138 patients (54.5%) met the response criteria. Independence of sex, longer duration of current episode, and greater severity of baseline negative symptoms were predictive of poorer outcome. Duration of illness had weak relations with outcome only among females. There were marked sex differences in other clinical features and symptoms associated with response. In contrast, no sex differences were observed in the nature of symptomatic improvement. Treatment resulted in marked improvement in specific positive symptoms, with an intermediate effect on affective symptoms and no effect or worsening of specific negative symptoms. The findings challenge recommendations that long duration of illness or absence of affective symptoms portends poor response to ECT in patients with treatment-resistant schizophrenia. Sex may play a critical role in determining the features of the illness that predict outcome.

Clinical implications of antimitochondrial antibody seropositivity in autoimmune hepatitis: a multicentre study.

PubMed

Muratori, Paolo; Efe, Cumali; Muratori, Luigi; Ozaslan, Ersan; Schiano, Thomas; Yoshida, Eric M; Heurgué-Berlot, Alexandra; Lalanne, Claudine; Lenzi, Marco; Wahlin, Staffan

2017-07-01

Antimitochondrial antibody (AMA) positivity is the serological marker of primary biliary cholangitis (PBC), but can also be sporadically detected in autoimmune hepatitis (AIH). Little is known about the clinical significance of AMA in AIH. We recruited 47 AMA-positive AIH cases from several centres and compared them with 264 well-characterized Italian AIH patients. Cases with any features of PBC were excluded. In univariate analysis, AMA-positive AIH patients were older (46 vs. 36, P=0.002) and more responsive to immunosuppression (74 vs. 59%, P=0.05), but no differences were observed between the two groups after logistic regression using AMA as a dependent variable. None of the AMA-positive AIH patients showed signs of evolving PBC features after a median follow-up of up 47 months. AMA was detected in combination with all serological AIH markers except antiliver kidney microsome type 1 and antiliver cytosol type 1. AMA was the only marker of autoimmunity in eight cases. We found no differences between AIH with and without AMA. The groups had similar clinical, biochemical and histological features. AMA-positive AIH patients did not evolve towards PBC. In some cases, AMA was the only autoantibody.

Bruxism in craniocervical dystonia: a prospective study.

PubMed

Borie, Laetitia; Langbour, Nicolas; Guehl, Dominique; Burbaud, Pierre; Ella, Bruno

2016-09-01

Bruxism pathophysiology remains unclear, and its occurrence has been poorly investigated in movement disorders. The aim of this study was to compare the frequency of bruxism in patients with craniocervical dystonia vs. normal controls and to determine its associated clinical features. This is a prospective-control study. A total of 114 dystonic subjects (45 facial dystonia, 69 cervical dystonia) and 182 controls were included. Bruxism was diagnosed using a hetero-questionnaire and a clinical examination performed by trained dentists. Occurrence of bruxism was compared between the different study populations. A binomial logistic regression analysis was used to determine which clinical features influenced bruxism occurrence in each population. The frequency of bruxism was significantly higher in the dystonic group than in normal controls but there was no difference between facial and cervical dystonia. It was also higher in women than in men. Bruxism features were similar between normal controls and dystonic patients except for a higher score of temporomandibular jaw pain in the dystonic group. The higher frequency of bruxism in dystonic patients suggests that bruxism is increased in patients with basal ganglia dysfunction but that its nature does not differ from that seen in bruxers from the normal population.

Are manic symptoms that 'dip' into depression the essence of mixed features?

PubMed

Malhi, Gin S; Fritz, Kristina; Allwang, Christine; Burston, Nicole; Cocks, Chris; Devlin, Jill; Harper, Margaret; Hoadley, Ben; Kearney, Brian; Klug, Peter; Meagher, Linton; Rowe, Mark; Samir, Hany; Way, Raymond; Wilson, Craig; Lyndon, William

2016-03-01

Three symptoms of (hypo)mania that clinically represent mood disorders mixed states have been omitted from the DSM-5 mixed features specifier because 'they fail to discriminate between manic and depressive syndromes'. Therefore, the present study examined the role of distractibility, irritability and psychomotor agitation (DIP) in characterising mixed depressive states. Fifty in-patients at a specialist mood disorders unit underwent a detailed longitudinal clinical evaluation (3-6 weeks) and were assessed on a range of standardized measures to characterise their illness according to depression subtype, duration of illness and clinical features-including specifically depressive and manic symptoms and the context in which these occur. 49 patients met criteria for major depressive episode, and of these, 34 experienced at least one dip symptom. Patients who endorsed distractibility were more likely to be diagnosed with Bipolar Disorder than Major Depressive Disorder; patients who endorsed irritable mood were more likely to have non-melancholic depression (admixture of depressive and anxiety symptoms), and patients who reported psychomotor agitation experienced a significantly greater number of distinct periods of (hypo)manic symptoms compared with those who did not. The present study used a modest sample size and did not control for medication or comorbid illness. Although this is inevitable when examining real-world patients in a naturalistic setting, future research needs to allow for comorbidity and its impact, specifically anxiety. The present findings suggest that all 3 symptoms that have been excluded from DSM-5 may be cardinal features of mixed states, as they 'dip' into depressive symptoms to create a mixed state. Copyright © 2015 Elsevier B.V. All rights reserved.

Traumatic intracranial injury in intoxicated patients with minor head trauma.

PubMed

Easter, Joshua S; Haukoos, Jason S; Claud, Jonathan; Wilbur, Lee; Hagstrom, Michelle Tartalgia; Cantrill, Stephen; Mestek, Michael; Symonds, David; Bakes, Katherine

2013-08-01

Studies focusing on minor head injury in intoxicated patients report disparate prevalences of intracranial injury. It is unclear if the typical factors associated with intracranial injury in published clinical decision rules for computerized tomography (CT) acquisition are helpful in differentiating patients with and without intracranial injuries, as intoxication may obscure particular features of intracranial injury such as headache and mimic other signs of head injury such as altered mental status. This study aimed to estimate the prevalence of intracranial injury following minor head injury (Glasgow Coma Scale [GCS] score ≥14) in intoxicated patients and to assess the performance of established clinical decision rules in this population. This was a prospective cohort study of consecutive intoxicated adults presenting to the emergency department (ED) following minor head injury. Historical and physical examination features included those from the Canadian CT Head Rule, National Emergency X-Radiography Utilization Study (NEXUS), and New Orleans Criteria. All patients underwent head CT. A total of 283 patients were enrolled, with a median age of 40 years (interquartile range [IQR] = 28 to 48 years) and median alcohol concentration of 195 mmol/L (IQR = 154 to 256 mmol/L). A total of 238 of 283 (84%) were male, and 225 (80%) had GCS scores of 15. Clinically important injuries (injuries requiring admission to the hospital or neurosurgical follow-up) were identified in 23 patients (8%; 95% confidence interval [CI] = 5% to 12%); one required neurosurgical intervention (0.4%, 95% CI = 0% to 2%). Loss of consciousness and headache were associated with clinically important intracranial injury on CT. The Canadian CT Head Rule had a sensitivity of 70% (95% CI = 47% to 87%) and NEXUS criteria had a sensitivity of 83% (95% CI = 61% to 95%) for clinically important injury in intoxicated patients. In this study, the prevalence of clinically important injury in intoxicated patients with minor head injury was significant. While the presence of the common features associated with intracranial injury in nonintoxicated patients should raise clinical suspicion for intracranial injury in intoxicated patients, the Canadian CT Head Rule and NEXUS criteria do not have adequate sensitivity to be applied in intoxicated patients with minor head injury. © 2013 by the Society for Academic Emergency Medicine.

H syndrome: the first 79 patients.

PubMed

Molho-Pessach, Vered; Ramot, Yuval; Camille, Frances; Doviner, Victoria; Babay, Sofia; Luis, Siekavizza Juan; Broshtilova, Valentina; Zlotogorski, Abraham

2014-01-01

H syndrome is an autosomal recessive genodermatosis with multisystem involvement caused by mutations in SLC29A3. We sought to investigate the clinical and molecular findings in 79 patients with this disorder. A total of 79 patients were included, of which 13 are newly reported cases. Because of the phenotypic similarity and molecular overlap with H syndrome, we included 18 patients with allelic disorders. For 31 patients described by others, data were gathered from the medical literature. The most common clinical features (>45% of patients) were hyperpigmentation, phalangeal flexion contractures, hearing loss, and short stature. Insulin-dependent diabetes mellitus and lymphadenopathy mimicking Rosai-Dorfman disease were each found in approximately 20%. Additional systemic features were described in less than 15% of cases. Marked interfamilial and intrafamilial clinical variability exists. Twenty mutations have been identified in SLC29A3, with no genotype-phenotype correlation. In the 31 patients described by others, data were collected from the medical literature. H syndrome is a multisystemic disease with clinical variability. Consequently, all SLC29A3-related diseases should be considered a single entity. Recognition of the pleomorphic nature of H syndrome is important for diagnosis of additional patients. Copyright © 2013 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

Clinical features of human metapneumovirus genotypes in children with acute lower respiratory tract infection in Changsha, China.

PubMed

Zeng, Sai-Zhen; Xiao, Ni-Guang; Zhong, Li-Li; Yu, Tian; Zhang, Bing; Duan, Zhao-Jun

2015-11-01

To explore the epidemiological and clinical features of different human metapneumovirus (hMPV) genotypes in hospitalized children. Reverse transcription polymerase chain reaction (RT-PCR) or PCR was employed to screen for both hMPV and other common respiratory viruses in 2613 nasopharyngeal aspirate specimens collected from children with lower respiratory tract infections from September 2007 to February 2011 (a period of 3.5 years). The demographics and clinical presentations of patients infected with different genotypes of hMPV were compared. A total of 135 samples were positive for hMPV (positive detection rate: 5.2%). Co-infection with other viruses was observed in 45.9% (62/135) of cases, and human bocavirus was the most common additional respiratory virus. The most common symptoms included cough, fever, and wheezing. The M gene was sequenced for 135 isolates; of these, genotype A was identified in 72.6% (98/135) of patients, and genotype B was identified in 27.4% (37/135) of patients. The predominant genotype of hMPV changed over the 3.5-year study period from genotype A2b to A2b or B1 and then to predominantly B1. Most of clinical features were similar between patients infected with different hMPV genotypes. These results suggested that hMPV is an important viral pathogen in pediatric patients with acute lower respiratory tract infection in Changsha. The hMPV subtypes A2b and B1 were found to co-circulate. The different hMPV genotypes exhibit similar clinical characteristics. © 2015 Wiley Periodicals, Inc.

Cardio‐facio‐cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

PubMed Central

Nava, Caroline; Hanna, Nadine; Michot, Caroline; Pereira, Sabrina; Pouvreau, Nathalie; Niihori, Tetsuya; Aoki, Yoko; Matsubara, Yoichi; Arveiler, Benoit; Lacombe, Didier; Pasmant, Eric; Parfait, Béatrice; Baumann, Clarisse; Héron, Delphine; Sigaudy, Sabine; Toutain, Annick; Rio, Marlène; Goldenberg, Alice; Leheup, Bruno; Verloes, Alain; Cavé, Hélène

2007-01-01

Cardio‐facio‐cutaneous (CFC) syndrome, Noonan syndrome (NS), and Costello syndrome (CS) are clinically related developmental disorders that have been recently linked to mutations in the RAS/MEK/ERK signalling pathway. This study was a mutation analysis of the KRAS, BRAF, MEK1 and MEK2 genes in a total of 130 patients (40 patients with a clinical diagnosis of CFC, 20 patients without HRAS mutations from the French Costello family support group, and 70 patients with NS without PTPN11 or SOS1 mutations). BRAF mutations were found in 14/40 (35%) patients with CFC and 8/20 (40%) HRAS‐negative patients with CS. KRAS mutations were found in 1/40 (2.5%) patients with CFC, 2/20 (10%) HRAS‐negative patients with CS and 4/70 patients with NS (5.7%). MEK1 mutations were found in 4/40 patients with CFC (10%), 4/20 (20%) HRAS‐negative patients with CS and 3/70 (4.3%) patients with NS, and MEK2 mutations in 4/40 (10%) patients with CFC. Analysis of the major phenotypic features suggests significant clinical overlap between CS and CFC. The phenotype associated with MEK mutations seems less severe, and is compatible with normal mental development. Features considered distinctive for CS were also found to be associated with BRAF or MEK mutations. Because of its particular cancer risk, the term “Costello syndrome” should only be used for patients with proven HRAS mutation. These results confirm that KRAS is a minor contributor to NS and show that MEK is involved in some cases of NS, demonstrating a phenotypic continuum between the clinical entities. Although some associated features appear to be characteristic of a specific gene, no simple rule exists to distinguish NS from CFC easily. PMID:17704260

Histological versus clinical cirrhosis in chronic hepatitis C: does race/ethnicity really matter?

PubMed

Kohla, Mohamed; Iwata, Shunpei; Ea, Roth; Keyhan, Sanaz; Taylor, Robert; Yu, Mimi C; Groshen, Susan; Bonacini, Maurizio

2012-03-01

Liver fibrosis progression in hepatitis C virus (HCV) infection has been in part associated with race/ethnicity. Little is known of the frequency of clinical cirrhosis in Asian patients in the US. To compare histological and clinical features of chronic hepatitis C (CHC) in a multiethnic cohort of patients. Retrospective query of an electronic medical registry for CHC patients evaluated from 1999 to 2005. Histological cirrhosis was defined as advanced METAVIR fibrosis score at biopsy. Clinical cirrhosis was defined as any of: varices, ascites, or splenomegaly. Liver cirrhosis was defined as either histological or clinical cirrhosis. Chi-square tests, t tests, and logistic regression method were used for data analysis. Six hundred and ninety-two patients were categorized into four racial-ethnic groups: 292 Caucasian (C), 145 Hispanic (H), 121 African American (AA), and 134 Asian (As) patients. Median age of AA (54 years) and As (53) was higher than C (52), or H (50) (p < 0.05). H patients had a higher percentage of alcohol abuse (60%) than AA and C (42-44%) and As (14%; p < 0.0001). Body mass index (BMI) was significantly lower in Asians compared to all other groups (p < 0.0001). Features of the metabolic syndrome were common, ranging from 28% in As to 72% in H patients. Liver cirrhosis was found in 53% H, 35% C, 29% As, and 19% AA. In multivariable analysis, only alcohol abuse, BMI, diabetes mellitus (DM), and age were significantly associated with liver cirrhosis. There was a trend for AA to have less cirrhosis, either histological or clinical (p = 0.08). Using only histology, liver cirrhosis was significantly underestimated. In our cohort, severity of CHC was not clearly affected by race when alcohol use and features of the metabolic syndrome were taken into consideration. However, there was a trend for African Americans to have lower cirrhosis rates.

SU-F-R-46: Predicting Distant Failure in Lung SBRT Using Multi-Objective Radiomics Model

DOE Office of Scientific and Technical Information (OSTI.GOV)

Zhou, Z; Folkert, M; Iyengar, P

2016-06-15

Purpose: To predict distant failure in lung stereotactic body radiation therapy (SBRT) in early stage non-small cell lung cancer (NSCLC) by using a new multi-objective radiomics model. Methods: Currently, most available radiomics models use the overall accuracy as the objective function. However, due to data imbalance, a single object may not reflect the performance of a predictive model. Therefore, we developed a multi-objective radiomics model which considers both sensitivity and specificity as the objective functions simultaneously. The new model is used to predict distant failure in lung SBRT using 52 patients treated at our institute. Quantitative imaging features of PETmore » and CT as well as clinical parameters are utilized to build the predictive model. Image features include intensity features (9), textural features (12) and geometric features (8). Clinical parameters for each patient include demographic parameters (4), tumor characteristics (8), treatment faction schemes (4) and pretreatment medicines (6). The modelling procedure consists of two steps: extracting features from segmented tumors in PET and CT; and selecting features and training model parameters based on multi-objective. Support Vector Machine (SVM) is used as the predictive model, while a nondominated sorting-based multi-objective evolutionary computation algorithm II (NSGA-II) is used for solving the multi-objective optimization. Results: The accuracy for PET, clinical, CT, PET+clinical, PET+CT, CT+clinical, PET+CT+clinical are 71.15%, 84.62%, 84.62%, 85.54%, 82.69%, 84.62%, 86.54%, respectively. The sensitivities for the above seven combinations are 41.76%, 58.33%, 50.00%, 50.00%, 41.67%, 41.67%, 58.33%, while the specificities are 80.00%, 92.50%, 90.00%, 97.50%, 92.50%, 97.50%, 97.50%. Conclusion: A new multi-objective radiomics model for predicting distant failure in NSCLC treated with SBRT was developed. The experimental results show that the best performance can be obtained by combining all features.« less

[Clinical-based study of ovarian cancer patients with and without BRCA1/2 genes mutation: clinical features and pedigree analysis].

PubMed

Tao, T; Yang, J X; Shen, K; Cao, D Y

2017-01-25

Objective: To compare the clinical and histological features and prognosis of patients with ovarian cancer from different genetic background, and to make further understanding of the genetic model of BRCA genes used pedigree analysis. Methods: There were 71 patients from 67 independent families enrolled in our study from Apr. 2000 to Jun. 2009 in Peking Union Medical College Hospital. All exons of BRCA1/2 genes were analyzed using denaturing high-performance liquid chromatography(DHPLC) followed by direct sequencing, and clinical features of patients were compared by statistical analysis. Pedigree analysis of two families with BRCA genes mutation were performed. Results: The mutation rate of BRCA genes was 28% (20/71). The frequency of BRCA1 and BRCA2 gene mutation was 23% (16/71) and 6% (4/71), respectively ( P= 0.004). Histology types of patients with and without BRCA genes mutation were different. The onset age between patients with and without BRCA genes mutation was similar (52.6 versus 54.6 years old, P= 0.393), and tend to be early-onset breast or ovarian cancer in high-risk group. There was no significant difference of platinum-resistant rate, disease free survival and overall survival rate between patients with and without BRCA genes mutation (all P> 0.05). According to the pedigree analysis, up to 100% of female offspring inherited pathogenic mutations, and male offspring could be a mutation carrier. Conclusions: The genetic screening and clinical intervention should be performed as early as possible for the members from families at risk of hereditary ovarian cancer. Genetic consulting is important for patients with high-grade papillary serous adenocarcinoma of ovary. It is still unknown that whether the patients with BRCA gene mutations have better prognosis than sporadic ones, and further perspective, randomized controlled trial is still needed.

Clinical characteristics and long-term response to mood stabilizers in patients with bipolar disorder and different age at onset

PubMed Central

Dell’Osso, Bernardo; Buoli, Massimiliano; Riundi, Riccardo; D’Urso, Nazario; Pozzoli, Sara; Bassetti, Roberta; Mundo, Emanuela; Altamura, A Carlo

2009-01-01

Introduction Bipolar disorder (BD) is a prevalent, comorbid, and impairing condition. Potential predictors of response to pharmacological treatment are object of continuous investigation in patients with BD. The present naturalistic study was aimed to assess clinical features and long-term response to mood stabilizers in a sample of bipolar subjects with different ages at onset. Methods The study sample included 108 euthymic patients, diagnosed as affected by BD, either type I or II, according to the DSM-IV-TR, who were started on mood stabilizer treatment. Patients were followed-up for 24 months and the occurrence of any mood episode collected. At the end of the follow-up, patients were divided in 3 subgroups according to the age at onset (early-onset ≤30 years, middle-onset >30–≤45 years, and late-onset >45 years, respectively) and the long-term response to mood stabilizers was compared between them along with other clinical features. Results The three subgroups showed significant differences in terms of clinical and demographic features and, with respect to long-term response to mood stabilizers, the early-onset subgroup showed a better outcome in terms of reduction of major depressive episodes during the 24-month follow-up compared to the other subgroups (one way ANOVA, F = 3.57, p = 0.032). Conclusions Even though further controlled studies are needed to clarify the relationship between age at onset and outcome in BD, the present follow-up study suggests clinical peculiarities and different patterns of response to mood stabilizers across distinct subgroups of patients with BD and different ages at onset. PMID:19649214

Autoimmunity-Associated PTPN22 Polymorphisms in Latent Autoimmune Diabetes of the Adult Differ from Those of Type 1 Diabetes Patients.

PubMed

Heneberg, Petr; Kocková, Lucie; Čecháková, Marie; Daňková, Pavlína; Černá, Marie

2018-06-12

A portion of adults with humoral immune changes have clinical diabetes that is initially not insulin-requiring (latent autoimmune diabetes of the adult, LADA). One of the genes strongly associated with autoimmune diabetes is PTPN22. We hypothesized that the manifestation and clinical features of LADA are linked to functional variants of PTPN22. We genotyped allelic frequencies of 1 protective and 3 risk-associated PTPN22 variants in 156 Czech LADA patients, 194 type 2 diabetes mellitus patients with LADA-like progression to insulinotherapy and 324 type 1 diabetes mellitus patients, and subsequently examined the associations of PTPN22 variants with the expression of autoantibodies and other clinical features of LADA. We challenged the paradigm that stated that the PTPN22 c.1858T allele serves as a risk allele for LADA, although we confirmed its risk status in the geographically matched T1DM cohort. In contrast, the frequencies of other PTPN22 alleles (c.-1123C, c.788A and c.1970-852C) differed significantly from the healthy controls. We confirmed gender-related differences in the frequency of some PTPN22 polymorphisms (but not c.1858C>T) in LADA. The particular PTPN22 alleles and genotypes were associated with specific clinical features of the examined patients (autoantibodies, HbA1c and age at diagnosis of diabetes). The variability in PTPN22 haplotypes suggests that the genetic signature of LADA is independent and should not be considered a hybrid form of T1DM and T2DM. Further studies should elucidate the associations with clinical characteristics of the LADA patients and focus on the newly emerging types of diabetes with the disease onset in early to mid-adulthood. © 2018 S. Karger AG, Basel.

In vivo signatures of nonfluent/agrammatic primary progressive aphasia caused by FTLD pathology

PubMed Central

Caso, Francesca; Mandelli, Maria Luisa; Henry, Maya; Gesierich, Benno; Bettcher, Brianne M.; Ogar, Jennifer; Filippi, Massimo; Comi, Giancarlo; Magnani, Giuseppe; Sidhu, Manu; Trojanowski, John Q.; Huang, Eric J.; Grinberg, Lea T.; Miller, Bruce L.; Dronkers, Nina; Seeley, William W.

2014-01-01

Objective: To identify early cognitive and neuroimaging features of sporadic nonfluent/agrammatic variant of primary progressive aphasia (nfvPPA) caused by frontotemporal lobar degeneration (FTLD) subtypes. Methods: We prospectively collected clinical, neuroimaging, and neuropathologic data in 11 patients with sporadic nfvPPA with FTLD-tau (nfvPPA-tau, n = 9) or FTLD–transactive response DNA binding protein pathology of 43 kD type A (nfvPPA-TDP, n = 2). We analyzed patterns of cognitive and gray matter (GM) and white matter (WM) atrophy at presentation in the whole group and in each pathologic subtype separately. We also considered longitudinal clinical data. Results: At first evaluation, regardless of pathologic FTLD subtype, apraxia of speech (AOS) was the most common cognitive feature and atrophy involved the left posterior frontal lobe. Each pathologic subtype showed few distinctive features. At presentation, patients with nfvPPA-tau presented with mild to moderate AOS, mixed dysarthria with prominent hypokinetic features, clear agrammatism, and atrophy in the GM of the left posterior frontal regions and in left frontal WM. While speech and language deficits were prominent early, within 3 years of symptom onset, all patients with nfvPPA-tau developed significant extrapyramidal motor signs. At presentation, patients with nfvPPA-TDP had severe AOS, dysarthria with spastic features, mild agrammatism, and atrophy in left posterior frontal GM only. Selective mutism occurred early, when general neurologic examination only showed mild decrease in finger dexterity in the right hand. Conclusions: Clinical features in sporadic nfvPPA caused by FTLD subtypes relate to neurodegeneration of GM and WM in frontal motor speech and language networks. We propose that early WM atrophy in nfvPPA is suggestive of FTLD-tau pathology while early selective GM loss might be indicative of FTLD-TDP. PMID:24353332

Incidence and clinical variables associated with streptococcal throat infections: a prospective diagnostic cohort study.

PubMed

Little, Paul; Hobbs, F D Richard; Mant, David; McNulty, Cliodna A M; Mullee, Mark

2012-11-01

Management of pharyngitis is commonly based on features which are thought to be associated with Lancefield group A beta-haemolytic streptococci (GABHS) but it is debatable which features best predict GABHS. Non-group A strains share major virulence factors with group A, but it is unclear how commonly they present and whether their presentation differs. To assess the incidence and clinical variables associated with streptococcal infections. Prospective diagnostic cohort study in UK primary care. The presence of pathogenic streptococci from throat swabs was assessed among patients aged ≥5 years presenting with acute sore throat. Pathogenic streptococci were found in 204/597 patients (34%, 95% CI = 31 to 38%): 33% (68/204) were non-group A streptococci, mostly C (n = 29), G (n = 18) and B (n = 17); rarely D (n = 3) and Streptococcus pneumoniae (n = 1). Patients presented with similar features whether the streptococci were group A or non-group A. The features best predicting A, C or G beta-haemolytic streptococci were patient's assessment of severity (odds ratio [OR] for a bad sore throat 3.31, 95% CI = 1.24 to 8.83); doctors' assessment of severity (severely inflamed tonsils OR 2.28, 95% CI = 1.39 to 3.74); absence of a bad cough (OR 2.73, 95% CI = 1.56 to 4.76), absence of a coryza (OR 1.54, 95% CI = 0.99 to 2.41); and moderately bad or worse muscle aches (OR 2.20, 95% CI = 1.41 to 3.42). Non-group A strains commonly cause streptococcal sore throats, and present with similar symptomatic clinical features to group A streptococci. The best features to predict streptococcal sore throat presenting in primary care deserve revisiting.

Reduced hemispheric asymmetry of brain anatomical networks in attention deficit hyperactivity disorder.

PubMed

Li, Dandan; Li, Ting; Niu, Yan; Xiang, Jie; Cao, Rui; Liu, Bo; Zhang, Hui; Wang, Bin

2018-05-11

Despite many studies reporting a variety of alterations in brain networks in patients with attention deficit hyperactivity disorder (ADHD), alterations in hemispheric anatomical networks are still unclear. In this study, we investigated topology alterations in hemispheric white matter in patients with ADHD and the relationship between these alterations and clinical features of the illness. Weighted hemispheric brain anatomical networks were first constructed for each of 40 right-handed patients with ADHD and 53 matched normal controls. Then, graph theoretical approaches were utilized to compute hemispheric topological properties. The small-world property was preserved in the hemispheric network. Furthermore, a significant group-by-hemisphere interaction was revealed in global efficiency, local efficiency and characteristic path length, attributed to the significantly reduced hemispheric asymmetry of global and local integration in patients with ADHD compared with normal controls. Specifically, reduced asymmetric regional efficiency was found in three regions. Finally, we found that the abnormal asymmetry of hemispheric brain anatomical network topology and regional efficiency were both associated with clinical features (the Adult ADHD Self-Report Scale and Wechsler Adult Intelligence Scale) in patients. Our findings provide new insights into the lateralized nature of hemispheric dysconnectivity and highlight the potential for using brain network measures of hemispheric asymmetry as neural biomarkers for ADHD and its clinical features.

Clinical and electrophysiological features of post-traumatic Guillain-Barré syndrome.

PubMed

Li, Xiaowen; Xiao, Jinting; Ding, Yanan; Xu, Jing; Li, Chuanxia; He, Yating; Zhai, Hui; Xie, Bingdi; Hao, Junwei

2017-07-27

Post-traumatic Guillain-Barré syndrome (GBS) is a rarely described potentially life-threatening cause of weakness. We sought to elucidate the clinical features and electrophysiological patterns of post-traumatic GBS as an aid to diagnosis. We retrospectively studied six patients diagnosed with post-traumatic GBS between 2014 and 2016 at Tianjin Medical University General Hospital, China. Clinical features, serum analysis, lumbar puncture results, electrophysiological examinations, and prognosis were assessed. All six patients had different degrees of muscular atrophy at nadir and in two, respiratory muscles were involved. Five also had damaged cranial nerves and four of these had serum antibodies against gangliosides. The most common electrophysiological findings were relatively normal distal latency, prominent reduction of compound muscle action potential amplitude, and absence of F-waves, which are consistent with an axonal form of GBS. It is often overlooked that GBS can be triggered by non-infectious factors such as trauma and its short-term prognosis is poor. Therefore, it is important to analyze the clinical and electrophysiological features of GBS after trauma. Here we have shown that electrophysiological evaluations are helpful for diagnosing post-traumatic GBS. Early diagnosis may support appropriate treatment to help prevent morbidity and improve prognosis.

Electronic health record analysis via deep poisson factor models

DOE Office of Scientific and Technical Information (OSTI.GOV)

Henao, Ricardo; Lu, James T.; Lucas, Joseph E.

Electronic Health Record (EHR) phenotyping utilizes patient data captured through normal medical practice, to identify features that may represent computational medical phenotypes. These features may be used to identify at-risk patients and improve prediction of patient morbidity and mortality. We present a novel deep multi-modality architecture for EHR analysis (applicable to joint analysis of multiple forms of EHR data), based on Poisson Factor Analysis (PFA) modules. Each modality, composed of observed counts, is represented as a Poisson distribution, parameterized in terms of hidden binary units. In-formation from different modalities is shared via a deep hierarchy of common hidden units. Activationmore » of these binary units occurs with probability characterized as Bernoulli-Poisson link functions, instead of more traditional logistic link functions. In addition, we demon-strate that PFA modules can be adapted to discriminative modalities. To compute model parameters, we derive efficient Markov Chain Monte Carlo (MCMC) inference that scales efficiently, with significant computational gains when compared to related models based on logistic link functions. To explore the utility of these models, we apply them to a subset of patients from the Duke-Durham patient cohort. We identified a cohort of over 12,000 patients with Type 2 Diabetes Mellitus (T2DM) based on diagnosis codes and laboratory tests out of our patient population of over 240,000. Examining the common hidden units uniting the PFA modules, we identify patient features that represent medical concepts. Experiments indicate that our learned features are better able to predict mortality and morbidity than clinical features identified previously in a large-scale clinical trial.« less

Electronic health record analysis via deep poisson factor models

DOE PAGES

Henao, Ricardo; Lu, James T.; Lucas, Joseph E.; ...

2016-01-01

Electronic Health Record (EHR) phenotyping utilizes patient data captured through normal medical practice, to identify features that may represent computational medical phenotypes. These features may be used to identify at-risk patients and improve prediction of patient morbidity and mortality. We present a novel deep multi-modality architecture for EHR analysis (applicable to joint analysis of multiple forms of EHR data), based on Poisson Factor Analysis (PFA) modules. Each modality, composed of observed counts, is represented as a Poisson distribution, parameterized in terms of hidden binary units. In-formation from different modalities is shared via a deep hierarchy of common hidden units. Activationmore » of these binary units occurs with probability characterized as Bernoulli-Poisson link functions, instead of more traditional logistic link functions. In addition, we demon-strate that PFA modules can be adapted to discriminative modalities. To compute model parameters, we derive efficient Markov Chain Monte Carlo (MCMC) inference that scales efficiently, with significant computational gains when compared to related models based on logistic link functions. To explore the utility of these models, we apply them to a subset of patients from the Duke-Durham patient cohort. We identified a cohort of over 12,000 patients with Type 2 Diabetes Mellitus (T2DM) based on diagnosis codes and laboratory tests out of our patient population of over 240,000. Examining the common hidden units uniting the PFA modules, we identify patient features that represent medical concepts. Experiments indicate that our learned features are better able to predict mortality and morbidity than clinical features identified previously in a large-scale clinical trial.« less

First hundred cases of variant Creutzfeldt-Jakob disease: retrospective case note review of early psychiatric and neurological features

PubMed Central

Spencer, Michael D; Knight, Richard S G; Will, Robert G

2002-01-01

Objective To describe the early psychiatric and neurological features of variant Creutzfeldt-Jakob disease. Design Cohort study. Setting National surveillance system for Creutzfeldt-Jakob disease in the United Kingdom. Participants The first 100 cases of variant Creutzfeldt-Jakob disease identified in the United Kingdom. Main outcome measures The timing and nature of early psychiatric and neurological symptoms in variant Creutzfeldt-Jakob disease. Results The early stages of variant Creutzfeldt-Jakob disease are dominated by psychiatric symptoms, but neurological symptoms precede psychiatric symptoms in 15% of cases and are present in combination with psychiatric symptoms in 22% of cases from the onset of disease. Common early psychiatric features include dysphoria, withdrawal, anxiety, insomnia, and loss of interest. No common early neurological features exist, but a significant proportion of patients do exhibit neurological symptoms within 4 months of clinical onset, including poor memory, pain, sensory symptoms, unsteadiness of gait, and dysarthria. Conclusions Although the diagnosis of variant Creutzfeldt-Jakob disease may be impossible in the early stages of the illness, particular combinations of psychiatric and neurological features may allow early diagnosis in an appreciable proportion of patients. What is already known on this topicThe early stages of variant Creutzfeldt-Jakob disease are dominated by psychiatric symptomatologySome patients have early neurological features that might suggest the presence of an underlying neurological disorderWhat this study addsThis study provides a comprehensive description of the evolution of psychiatric and neurological features in variant Creutzfeldt-Jakob diseaseAn appreciable proportion of patients have early neurological symptomsA high proportion of patients have a combination of psychiatric and neurological features within four months of clinical onset that suggest the diagnosis of variant Creutzfeldt-Jakob disease PMID:12077031

An autopsy study of combined pulmonary fibrosis and emphysema: correlations among clinical, radiological, and pathological features

PubMed Central

2014-01-01

Background Clinical evaluation to differentiate the characteristic features of pulmonary fibrosis and emphysema is often difficult in patients with combined pulmonary fibrosis and emphysema (CPFE), but diagnosis of pulmonary fibrosis is important for evaluating treatment options and the risk of acute exacerbation of interstitial pneumonia of such patients. As far as we know, it is the first report describing a correlation among clinical, radiological, and whole-lung pathological features in an autopsy cases of CPFE patients. Methods Experts retrospectively reviewed the clinical charts and examined chest computed tomography (CT) images and pathological findings of an autopsy series of 22 CPFE patients, and compared these with findings from 8 idiopathic pulmonary fibrosis (IPF) patients and 17 emphysema-alone patients. Results All patients had a history of heavy smoking. Forced expiratory volume in 1 s/forced vital capacity (FEV1/FVC%) was significantly lower in the emphysema-alone group than the CPFE and IPF-alone groups. The percent predicted diffusing capacity of the lung for carbon monoxide (DLCO%) was significantly lower in the CPFE group than the IPF- and emphysema-alone groups. Usual interstitial pneumonia (UIP) pattern was observed radiologically in 15 (68.2%) CPFE and 8 (100%) IPF-alone patients and was pathologically observed in all patients from both groups. Pathologically thick-cystic lesions involving one or more acini with dense wall fibrosis and occasional fibroblastic foci surrounded by honeycombing and normal alveoli were confirmed by post-mortem observation as thick-walled cystic lesions (TWCLs). Emphysematous destruction and enlargement of membranous and respiratory bronchioles with fibrosis were observed in the TWCLs. The cystic lesions were always larger than the cysts of honeycombing. The prevalence of both radiological and pathological TWCLs was 72.7% among CPFE patients, but no such lesions were observed in patients with IPF or emphysema alone (p = 0.001). The extent of emphysema in CPFE patients with TWCLs was greater than that in patients without such lesions. Honeycombing with emphysema was also observed in 11 CPFE patients. Conclusions TWCLs were only observed in the CPFE patients. They were classified as lesions with coexistent fibrosing interstitial pneumonia and emphysema, and should be considered an important pathological and radiological feature of CPFE. PMID:24972672

Clinical Features of Auditory Hallucinations in Patients With Dementia With Lewy Bodies: A Soundtrack of Visual Hallucinations.

PubMed

Tsunoda, Naoko; Hashimoto, Mamoru; Ishikawa, Tomohisa; Fukuhara, Ryuji; Yuki, Seiji; Tanaka, Hibiki; Hatada, Yutaka; Miyagawa, Yusuke; Ikeda, Manabu

2018-05-08

Auditory hallucinations are an important symptom for diagnosing dementia with Lewy bodies (DLB), yet they have received less attention than visual hallucinations. We investigated the clinical features of auditory hallucinations and the possible mechanisms by which they arise in patients with DLB. We recruited 124 consecutive patients with probable DLB (diagnosis based on the DLB International Workshop 2005 criteria; study period: June 2007-January 2015) from the dementia referral center of Kumamoto University Hospital. We used the Neuropsychiatric Inventory to assess the presence of auditory hallucinations, visual hallucinations, and other neuropsychiatric symptoms. We reviewed all available clinical records of patients with auditory hallucinations to assess their clinical features. We performed multiple logistic regression analysis to identify significant independent predictors of auditory hallucinations. Of the 124 patients, 44 (35.5%) had auditory hallucinations and 75 (60.5%) had visual hallucinations. The majority of patients (90.9%) with auditory hallucinations also had visual hallucinations. Auditory hallucinations consisted mostly of human voices, and 90% of patients described them as like hearing a soundtrack of the scene. Multiple logistic regression showed that the presence of auditory hallucinations was significantly associated with female sex (P = .04) and hearing impairment (P = .004). The analysis also revealed independent correlations between the presence of auditory hallucinations and visual hallucinations (P < .001), phantom boarder delusions (P = .001), and depression (P = .038). Auditory hallucinations are common neuropsychiatric symptoms in DLB and usually appear as a background soundtrack accompanying visual hallucinations. Auditory hallucinations in patients with DLB are more likely to occur in women and those with impaired hearing, depression, delusions, or visual hallucinations. © Copyright 2018 Physicians Postgraduate Press, Inc.

A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism.

PubMed

Şimşek-Kiper, Pelin Özlem; Bayram, Yavuz; Ütine, Gülen Eda; Alanay, Yasemin; Boduroğlu, Koray

2014-01-01

Distal 11q deletion, previously known as Jacobsen syndrome, is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical clinical features include facial dysmorphism, mild-to-moderate psychomotor retardation, trigonocephaly, cardiac defects, and thrombocytopenia. There is a significant variability in the range of clinical features. We report herein a five-year-old girl with severe ophthalmological findings, facial dysmorphism, and psychomotor retardation with normal platelet function, in whom a de novo 11q23 deletion was detected, suggesting that distal 11q monosomy should be kept in mind in patients presenting with dysmorphic facial features and psychomotor retardation even in the absence of hematological findings.

A Combination of Molecular Markers and Clinical Features Improve the Classification of Pancreatic Cysts

PubMed Central

Springer, Simeon; Wang, Yuxuan; Molin, Marco Dal; Masica, David L.; Jiao, Yuchen; Kinde, Isaac; Blackford, Amanda; Raman, Siva P.; Wolfgang, Christopher L.; Tomita, Tyler; Niknafs, Noushin; Douville, Christopher; Ptak, Janine; Dobbyn, Lisa; Allen, Peter J.; Klimstra, David S.; Schattner, Mark A.; Schmidt, C. Max; Yip-Schneider, Michele; Cummings, Oscar W.; Brand, Randall E.; Zeh, Herbert J.; Singhi, Aatur D.; Scarpa, Aldo; Salvia, Roberto; Malleo, Giuseppe; Zamboni, Giuseppe; Falconi, Massimo; Jang, Jin-Young; Kim, Sun-Whe; Kwon, Wooil; Hong, Seung-Mo; Song, Ki-Byung; Kim, Song Cheol; Swan, Niall; Murphy, Jean; Geoghegan, Justin; Brugge, William; Fernandez-Del Castillo, Carlos; Mino-Kenudson, Mari; Schulick, Richard; Edil, Barish H.; Adsay, Volkan; Paulino, Jorge; van Hooft, Jeanin; Yachida, Shinichi; Nara, Satoshi; Hiraoka, Nobuyoshi; Yamao, Kenji; Hijioka, Susuma; van der Merwe, Schalk; Goggins, Michael; Canto, Marcia Irene; Ahuja, Nita; Hirose, Kenzo; Makary, Martin; Weiss, Matthew J.; Cameron, John; Pittman, Meredith; Eshleman, James R.; Diaz, Luis A.; Papadopoulos, Nickolas; Kinzler, Kenneth W.; Karchin, Rachel; Hruban, Ralph H.; Vogelstein, Bert; Lennon, Anne Marie

2016-01-01

Background & Aims The management of pancreatic cysts poses challenges to both patients and their physicians. We investigated whether a combination of molecular markers and clinical information could improve the classification of pancreatic cysts and management of patients. Methods We performed a multi-center, retrospective study of 130 patients with resected pancreatic cystic neoplasms (12 serous cystadenomas, 10 solid-pseudopapillary neoplasms, 12 mucinous cystic neoplasms, and 96 intraductal papillary mucinous neoplasms). Cyst fluid was analyzed to identify subtle mutations in genes known to be mutated in pancreatic cysts (BRAF, CDKN2A, CTNNB1, GNAS, KRAS, NRAS, PIK3CA, RNF43, SMAD4, TP53 and VHL); to identify loss of heterozygozity at CDKN2A, RNF43, SMAD4, TP53, and VHL tumor suppressor loci; and to identify aneuploidy. The analyses were performed using specialized technologies for implementing and interpreting massively parallel sequencing data acquisition. An algorithm was used to select markers that could classify cyst type and grade. The accuracy of the molecular markers were compared with that of clinical markers, and a combination of molecular and clinical markers. Results We identified molecular markers and clinical features that classified cyst type with 90%–100% sensitivity and 92%–98% specificity. The molecular marker panel correctly identified 67 of the 74 patients who did not require surgery, and could therefore reduce the number of unnecessary operations by 91%. Conclusions We identified a panel of molecular markers and clinical features that show promise for the accurate classification of cystic neoplasms of the pancreas and identification of cysts that require surgery. PMID:26253305

Clinical and pathological features of myeloid leukemia cutis*

PubMed Central

Li, Li; Wang, Yanan; Lian, Christine Guo; Hu, Nina; Jin, Hongzhong; Liu, Yuehua

2018-01-01

Background Myeloid leukemia cutis is the terminology used for cutaneous manifestations of myeloid leukemia. Objective The purpose of this study was to study the clinical, histopathological and immunohistochemical features of myeloid leukemia cutis. Methods This was a retrospective study of clinical and pathological features of 10 patients with myeloid leukemia cutis. Results One patient developed skin lesions before the onset of leukemia, seven patients developed skin infiltration within 4-72 months after the onset of leukemia, and two patients developed skin lesions and systemic leukemia simultaneously. Of these patients, five presented with generalized papules or nodules, and five with localized masses. The biopsy of skin lesions showed a large number of tumor cells within the dermis and subcutaneous fat layer. Immunohistochemical analysis showed strong reactivity to myeloperoxidase (MPO), CD15, CD43 and CD45 (LCA) in most cases. NPM1 (nucleophosmin I) and FLT3-ITD (Fms-like tyrosine kinase 3-internal tandem duplication) mutations were identified in one case. Five patients with acute myelogenous leukemia and one patient with chronic myelomonocytic leukemia died within two months to one year after the onset of skin lesions. Study limitations This was a retrospective and small sample study. Conclusions In patients with myelogenous leukemia, skin infiltration usually occurs after, but occasionally before, the appearance of hemogram and myelogram abnormalities, and the presence of skin infiltration is often associated with a poor prognosis and short survival time. myeloid leukemia cutis often presents as generalized or localized nodules or masses with characteristic pathological and histochemical findings. PMID:29723350

Appropriateness guidelines and predictive rules to select patients for upper endoscopy: a nationwide multicenter study.

PubMed

Buri, Luigi; Hassan, Cesare; Bersani, Gianluca; Anti, Marcello; Bianco, Maria Antonietta; Cipolletta, Livio; Di Giulio, Emilio; Di Matteo, Giovanni; Familiari, Luigi; Ficano, Leonardo; Loriga, Pietro; Morini, Sergio; Pietropaolo, Vincenzo; Zambelli, Alessandro; Grossi, Enzo; Intraligi, Marco; Buscema, Massimo

2010-06-01

Selecting patients appropriately for upper endoscopy (EGD) is crucial for efficient use of endoscopy. The objective of this study was to compare different clinical strategies and statistical methods to select patients for EGD, namely appropriateness guidelines, age and/or alarm features, and multivariate and artificial neural network (ANN) models. A nationwide, multicenter, prospective study was undertaken in which consecutive patients referred for EGD during a 1-month period were enrolled. Before EGD, the endoscopist assessed referral appropriateness according to the American Society for Gastrointestinal Endoscopy (ASGE) guidelines, also collecting clinical and demographic variables. Outcomes of the study were detection of relevant findings and new diagnosis of malignancy at EGD. The accuracy of the following clinical strategies and predictive rules was compared: (i) ASGE appropriateness guidelines (indicated vs. not indicated), (ii) simplified rule (>or=45 years or alarm features vs. <45 years without alarm features), (iii) logistic regression model, and (iv) ANN models. A total of 8,252 patients were enrolled in 57 centers. Overall, 3,803 (46%) relevant findings and 132 (1.6%) new malignancies were detected. Sensitivity, specificity, and area under the receiver-operating characteristic curve (AUC) of the simplified rule were similar to that of the ASGE guidelines for both relevant findings (82%/26%/0.55 vs. 88%/27%/0.52) and cancer (97%/22%/0.58 vs. 98%/20%/0.58). Both logistic regression and ANN models seemed to be substantially more accurate in predicting new cases of malignancy, with an AUC of 0.82 and 0.87, respectively. A simple predictive rule based on age and alarm features is similarly effective to the more complex ASGE guidelines in selecting patients for EGD. Regression and ANN models may be useful in identifying a relatively small subgroup of patients at higher risk of cancer.

Comparison of Clinical Features and Outcomes in Patients with Extraskeletal Versus Skeletal Localized Ewing Sarcoma: A Report from the Children’s Oncology Group

PubMed Central

Cash, Thomas; McIlvaine, Elizabeth; Krailo, Mark D.; Lessnick, Stephen L.; Lawlor, Elizabeth R.; Laack, Nadia; Sorger, Joel; Marina, Neyssa; Grier, Holcombe E.; Granowetter, Linda; Womer, Richard B.; DuBois, Steven G.

2016-01-01

BACKGROUND The prognostic significance of having extraskeletal vs. skeletal Ewing sarcoma in the setting of modern chemotherapy protocols is unknown. The purpose of this study was to compare the clinical characteristics, biologic features, and outcomes for patients with extraskeletal and skeletal Ewing sarcoma. METHODS Patients had localized Ewing sarcoma (ES) and were treated on two consecutive protocols using 5-drug chemotherapy (INT-0154 and AEWS0031). Patients were analyzed based on having an extraskeletal (n=213) or skeletal (n=826) site of tumor origin. Event-free survival (EFS) was estimated using the Kaplan-Meier method, compared using the log-rank test, and modeled using Cox multivariate regression. RESULTS Patients with extraskeletal Ewing Sarcoma (EES) were more likely to have axial tumors (72% vs. 55%; P < 0.001), less likely to have tumors > 8 cm (9% vs. 17%; P < 0.01), and less likely to be white (81% vs. 87%; P < 0.001) compared to patients with skeletal ES. There was no difference in key genomic features (type of EWSR1 translocation, TP53 mutation, CDKN2A mutation/loss) between groups. After controlling for age, race, and primary site, EES was associated with superior EFS [hazard ratio = 0.69; 95% CI: 0.50–0.95; P = 0.02]. Among patients with EES, age ≥ 18 years, non-white race, and elevated baseline erythrocyte sedimentation rate (ESR) were independently associated with inferior EFS. CONCLUSION Clinical characteristics, but not key tumor genomic features, differ between EES and skeletal ES. Extraskeletal origin is a favorable prognostic factor, independent of age, race, and primary site. PMID:27297500

Widespread porokeratotic adnexal ostial nevus: clinical features and proposal of a new name unifying porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus.

PubMed

Goddard, Deborah S; Rogers, Maureen; Frieden, Ilona J; Krol, Alfons L; White, Clifton R; Jayaraman, Anu G; Robinson-Bostom, Leslie; Bruckner, Anna L; Ruben, Beth S

2009-12-01

Porokeratotic eccrine ostial and dermal duct nevus and a similar condition, porokeratotic eccrine and hair follicle nevus, are rare disorders of keratinization with eccrine and hair follicle involvement. We describe the clinical features in 5 patients, all of whom had widespread skin involvement following the lines of Blaschko. Two patients presented with erosions in the newborn period as the initial manifestation of their disease; one had an associated structural anomaly, unilateral breast hypoplasia; and one adult had malignant transformation in the nevus with development of multifocal squamous cell carcinomas. Three patients had histologic involvement of both acrosyringia and acrotrichia. Based on the observation of overlapping histologic features, we propose the name "porokeratotic adnexal ostial nevus" to incorporate the previously described entities porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus.

Recurrent Guillain-Barré syndrome presenting stereotypic manifestations, positive antiganglioside antibodies, and rapid recovery.

PubMed

Pyun, So Young; Jeong, Jin-Ho; Bae, Jong Seok

2015-12-01

Recurrent Guillain-Barré syndrome (rGBS) has been described as a rare entity with distinct characteristics. However, little is known about rGBS in Asian group. The aim of this study was to identify the incidence and clinical course of rGBS, and to determine its clinical/pathophysiological implications. The consecutive data of 117 GBS patients were retrieved from a single university-based hospital in Korea and analyzed in terms of clinical, serological, electrophysiological aspects. A thorough review revealed that three (2.6%) of the enrolled patients had experienced more than two definite recurrent attacks of GBS. Interestingly, all three cases exhibited clinically stereotypical features, serum antiganglioside antibodies, and rapid recovery after intravenous immunoglobulin treatment. Clinical, serological, and electrophysiological features of rGBS cases were described in detail. The stereotypic presentation of each attack in this variant suggests the importance of both host and genetic factors for the clinical manifestations. In addition, the simultaneous presence of serum antiganglioside antibodies and rapid recovery implicate reversible nerve conduction failure as the mechanism of rGBS. These features are different from typical monophasic GBS and acute onset of chronic inflammatory demyelinating polyneuropathy. Copyright © 2015 Elsevier B.V. All rights reserved.

Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet-Biedl syndrome.

PubMed

Viswanathan, Vibhu Krishnan; Kanna, Rishi Mugesh; Shetty, Ajoy Prasad; Rajasekaran, S

2017-01-01

Bardet-Biedl syndrome (BBS) is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse neuromuscular manifestations in patients afflicted by this heterogeneous disorder include ataxia, cervical, and thoracic canal stenoses, presenting as spastic quadriparesis and other gait disturbances. We report a young patient with BBS, who had presented with acute flaccid paraparesis due to severe primary lumbar canal stenosis. She underwent immediate lumbar decompression and discectomy following which she recovered significantly. Acute cauda equina syndrome due to primary lumbar canal stenosis has not been reported as a clinical feature of BBS previously.

Ebola outbreak in Conakry, Guinea: epidemiological, clinical, and outcome features.

PubMed

Barry, M; Traoré, F A; Sako, F B; Kpamy, D O; Bah, E I; Poncin, M; Keita, S; Cisse, M; Touré, A

2014-12-01

The authors studied the epidemiological, clinical, and outcome features of the Ebola virus disease in patients hospitalized at the Ebola treatment center (ETC) in Conakry to identify clinical factors associated with death. A prospective study was conducted from March 25 to August 20, 2014. The diagnosis of Ebola virus infection was made on real-time PCR. Ninety patients, with a positive test result, were hospitalized. Their mean age was 34.12±14.29 years and 63% were male patients. Most worked in the informal sector (38%) and in the medical and paramedical staff (physicians 12%, nurses 6%, and laboratory technicians 1%). Most patients lived in the Conakry suburbs (74%) and in Boffa (11%). The main clinical signs were physical asthenia (80%) and fever (72%). Hemorrhagic signs were observed in 26% of patients. The comparison of clinical manifestations showed that hiccups (P=0.04), respiratory distress (P=0.04), and hemorrhagic symptoms (P=0.01) were more frequent among patients who died. Malaria (72%) and diabetes (2%) were the most frequent co-morbidities. The crude case fatality rate was 44% [95% confidence interval (33-54%)]. The average hospital stay was 7.96±5.81 days. The first Ebola outbreak in Conakry was characterized by the young age of patients, discrete hemorrhagic signs related to lethality. Its control relies on a strict use of preventive measures. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Effect of improved access to antiretroviral therapy on clinical characteristics of patients enrolled in the HIV care and treatment clinic, at Muhimbili National Hospital (MNH), Dar es Salaam, Tanzania.

PubMed

Mugusi, Sabina F; Mwita, Julius C; Francis, Joel M; Aboud, Said; Bakari, Muhammad; Aris, Eric A; Swai, Andrew B; Mugusi, Ferdinand M; Pallangyo, Kisali; Sandstrom, Eric

2010-05-28

Sub-Saharan Africa has been severely affected by the HIV and AIDS pandemic. Global efforts at improving care and treatment has included scaling up use of antiretroviral therapy (ART). In Tanzania, HIV care and treatment program, including the provision of free ART started in 2004 with a pilot program at Muhimbili National Hospital in Dar es Salaam. This study describes the socio-demographic and clinical features of patients enrolled at the care and treatment clinic at MNH, Dar es Salaam, Tanzania. A cross-sectional study looking at baseline characteristics of patients enrolled at the HIV clinic at MNH between June 2004-Dec 2005 compared to those enrolled between 2006 and September 2008. Of all enrolled patients, 2408 (58.5%) were used for analysis. More females than males were attending the clinic. Their baseline median CD4 cell count was low (136 cells/microl) with 65.7% having below 200 cells/microl. Females had higher CD4 cell counts (150 cells/microl) than males (109 cells/microl) p < 0.001). The most common presenting features were skin rash and/or itching (51.6%); progressive weight loss (32.7%) and fever (23.4). Patients enrolled earlier at the clinic (2004-5) were significantly more symptomatic and had significantly lower CD4 cell count (127 cells/microl) compared to CD4 of 167 cells/microl in those seen later (2006-8) (p < 0.001). Patients enrolled to the MNH HIV clinic were predominantly females, and presented with advanced immune-deficiency. Improved access to HIV care and treatment services seems to be associated with patients' early presentation to the clinics in the course of HIV disease.

Secondary psychotic features in refugees diagnosed with post-traumatic stress disorder: a retrospective cohort study.

PubMed

Nygaard, Mette; Sonne, Charlotte; Carlsson, Jessica

2017-01-05

A substantial amount of refugees (10-30%) suffer from Post-Traumatic Stress Disorder (PTSD). In Denmark there are different facilities specialised in psychiatric treatment of trauma-affected refugees. A previously published case report from such a facility in Denmark shows that some patients suffer from secondary psychotic symptoms alongside their PTSD. The aim of this study was to illustrate the characteristics and estimate the prevalence of psychotic features in a clinical population of trauma-affected refugees with PTSD. Psychiatric records from 220 consecutive patients at Competence Centre for Transcultural Psychiatry (CTP) were examined, and all the PTSD patients were divided into two groups; one group with secondary psychotic features (PTSD-SP group) and one without (PTSD group). A categorisation and description of the secondary psychotic features was undertaken. One hundred eighty-one patients were diagnosed with PTSD among which psychotic symptoms were identified in 74 (40.9, 95% CI 33.7-48.1%). The majority of symptoms identified were auditory hallucinations (66.2%) and persecutory delusions (50.0%). There were significantly more patients diagnosed with enduring personality change after catastrophic experience in the PTSD-SP group than in the PTSD group (P = 0.009). Furthermore the PTSD-SP group included significantly more patients exposed to torture (P = 0.001) and imprisonment (P = 0.005). This study provides an estimation of PTSD-SP prevalence in a clinical refugee population with PTSD. The study points to the difficulties distinguishing psychotic features from flashbacks and the authors call for attention to psychotic features in PTSD patients in order to improve documentation and understanding of the disorder.

Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations.

PubMed

Liu, Wenyu; Yan, Bo; An, Dongmei; Xiao, Jiahe; Hu, Fayun; Zhou, Dong

2017-07-01

The purpose of this study was to better delineate the clinical spectrum of periventricular nodular heterotopia (PNH) in a large patient population after long term follow up. Specifically, this study aimed to relate PNH subtypes to clinical or epileptic outcomes, epileptic discharges and underlying Filamin A (FLNA) mutations by analyzing anatomical features. The study included 100 patients with radiologically confirmed nodular heterotopia. Patients' FLNA gene sequences and medical records were analyzed. Two-sided Chi-square test and Fisher's exact t-test were used to assess associations between the distribution of PNHs and specific clinical features. Based on imaging data, patients were subdivided into three groups: (a) classical (bilateral frontal and body, n=41 patients), (b) bilateral asymmetrical or posterior (n=16) and (c) unilateral heterotopia (n=43). Most patients with classical heterotopia were females (P=0.033) and were likely to have arachnoid cysts (P=0.025) and cardiac abnormalities (P=0.041), but were mostly seizure-free. Additionally, hippocampal abnormalities (P=0.022), neurological deficits (P=0.028) and cerebellar abnormalities (P=0.005) were more common in patients with bilateral asymmetrical heterotopia. Patients with unilateral heterotopia were prone to develop refractory epilepsy (P=0.041). FLNA mutations were identified in 8 patients. Each group's distinctive genetic mutations, epileptic discharge patterns and overall clinical outcomes confirm that the proposed classification system is reliable. These findings could not only be an indicator of a more severe morphological and clinical phenotype, but could also have clinical implications with respect to the epilepsy management and optimization of therapeutic options. Copyright © 2017 Elsevier B.V. All rights reserved.

Dengue fever

PubMed Central

Badreddine, Samar; Al-Dhaheri, Fahmi; Al-Dabbagh, Ammar; Al-Amoudi, Abdulrahman; Al-Ammari, Maged; Elatassi, Nader; Abbas, Haytham; Magliah, Rami; Malibari, Abdulbasit; Almoallim, Hani

2017-01-01

Objectives: To delineate the clinical features and outcomes of dengue infection and to guide clinician of early diagnosis and identification of risks factors for dengue hemorrhagic fever. Methods: This study is a retrospective cross-sectional. Clinical records of 567 patients with a confirmed diagnosis of dengue infection, admitted to a single hospital in Jeddah, Saudi Arabia, between January 2010 and June 2014 were reviewed. Results: Dengue infection was most common in adult males. Sixty-eight percent of infections were in Saudi nationals. In addition to the diagnostic clinical features, leucopenia and thrombocytopenia were typical of dengue infection. Approximately 4.1% of adult patients and 7.1% of pediatric patients developed dengue hemorrhagic fever (DHF). Abdominal pain and vomiting were more common in patients developing DHF. Mean platelet count was lower in adult, but not pediatric patients developing DHF. Peak alanine aminotransferase (ALT) was higher in adult and pediatric patients developing DHF. Three patients died, 2 of them developed DHF. Ninety-eight percent of adult patients and 92% of pediatric patients made a full recovery. Conclusions: Dengue infection is common in Jeddah. Abdominal pain and vomiting, thrombocytopenia, and elevated ALT are typical of severe infection, which is more likely to be associated with significant morbidity and mortality. PMID:28917067

Magnetic resonance imaging findings in patients presenting with (sub)acute cerebellar ataxia.

PubMed

Schneider, Tanja; Thomalla, Götz; Goebell, Einar; Piotrowski, Anna; Yousem, David Mark

2015-06-01

Acute or subacute cerebellar inflammation is mainly caused by postinfectious, toxic, neoplastic, vascular, or idiopathic processes and can result in cerebellar ataxia. Previous magnetic resonance (MR) studies in single patients who developed acute or subacute ataxia showed varying imaging features. Eighteen patients presenting with acute and subacute onset of ataxia were included in this study. Cases of chronic-progressive/hereditary and noncerebellar causes (ischemia, multiple sclerosis lesions, metastasis, bleedings) were excluded. MR imaging findings were then matched with the clinical history of the patient. An underlying etiology for ataxic symptoms were found in 14/18 patients (postinfectious/infectious, paraneoplastic, autoimmune, drug-induced). In two of five patients without MR imaging findings and three of eight patients with minimal imaging features (cerebellar atrophy, slight signal alterations, and small areas of restricted diffusion), adverse clinical outcomes were documented. Of the five patients with prominent MR findings (cerebellar swelling, contrast enhancement, or broad signal abnormalities), two were lost to follow-up and two showed long-term sequelae. No correlation was found between the presence of initial MRI findings in subacute or acute ataxia patients and their long-term clinical outcome. MR imaging was more flagrantly positive in cases due to encephalitis.

Association of Discoid Lupus with Clinical Manifestations and Damage Accrual in PROFILE: A Multiethnic Lupus Cohort

PubMed Central

Santiago-Casas, Yesenia; Vilá, Luis M.; McGwin, Gerald; Cantor, Ryan S.; Petri, Michelle; Ramsey-Goldman, Rosalind; Reveille, John D.; Kimberly, Robert P.; Alarcón, Graciela S.; Brown, Elizabeth E.

2013-01-01

Objective To determine the clinical manifestations and disease damage associated with discoid rash in a large multiethnic systemic lupus erythematosus (SLE) cohort. Methods SLE patients (per ACR criteria), age ≥ 16 years, disease duration ≤ 10 years at enrollment, and defined ethnicity (African American, Hispanic or Caucasian), from a longitudinal cohort were studied. Socioeconomic-demographic features, clinical manifestations and disease damage [as per the Systemic Lupus International Collaborating Clinics Damage Index (SDI)] were determined. The association of DLE with clinical manifestations and disease damage was examined using multivariable logistic regression. Results A total of 2,228 SLE patients were studied. The mean (standard deviation, SD) age at diagnosis was 34.3 (12.8) years and the mean (SD) disease duration was 7.9 (6.0) years; 91.8% were women. Discoid lupus was observed in 393 (17.6%) of patients with SLE. In the multivariable analysis, patients with discoid lupus were more likely to be smokers and of African-American ethnicity, and to have malar rash, photosensitivity, oral ulcers, leukopenia and vasculitis. DLE patients were less likely to be of Hispanic (from Texas) ethnicity, and to have arthritis, end-stage renal disease (ESRD), and antinuclear, anti-dsDNA and anti-phospholipid antibodies. Patients with DLE had more damage accrual, particularly chronic seizures, scarring alopecia, scarring of the skin, and skin ulcers. Conclusion In this cohort of SLE patients, discoid lupus was associated with several clinical features including serious manifestations such as vasculitis and chronic seizures. PMID:22190480

Clinical Features of Non-clostridial Gas Gangrene and Risk Factors for In-hospital Mortality.

PubMed

Takazawa, Kensuke; Otsuka, Hiroyuki; Nakagawa, Yoshihide; Inokuchi, Sadaki

2015-09-20

To examine the clinical features of patients with non-clostridial gas gangrene (NCGG) at our hospital and identify risk factors for in-hospital mortality. This study included 24 patients with NCGG who were hospitalized in our medical facility from April 2005 to March 2015. The clinical features of NCGG were reviewed, and the characteristics of 6 patients who died in hospital and 18 who survived were compared to investigate risk factors. The median time from symptom onset to hospital arrival was 168 h. The causative agent was Klebsiella pneumoniae in 8.3% and mixed infection in 91.7%; 83.3% of patients had diabetes, and one patient had no obvious underlying disease. The site of infection was the neck in 4.2%, the thoracoabdominal wall and retroperitoneum in 12.5% each, the back in 33.3%, the buttocks in 25.0%, the perineum in 20.8%, and the extremities in 45.8%. Retroperitoneal infection, blood lactate ≥ 4.0 mmol/L, and Japanese Association for Acute Medicine disseminated intravascular coagulation (DIC) score ≥ 4 on emergency department (ED) arrival were significantly higher in non-survivors than in survivors. NCGG tends to develop in patients with diabetes, and in-hospital mortality rates are still high. Retroperitoneal infection, hyperlactatemia, and DIC on ED arrival are risk factors for in-hospital mortality.

Comparative study of bacteremias caused by Enterococcus spp. with and without high-level resistance to gentamicin. The Grupo Andaluz para el estudio de las Enfermedades Infecciosas.

PubMed

Caballero-Granado, F J; Cisneros, J M; Luque, R; Torres-Tortosa, M; Gamboa, F; Díez, F; Villanueva, J L; Pérez-Cano, R; Pasquau, J; Merino, D; Menchero, A; Mora, D; López-Ruz, M A; Vergara, A

1998-02-01

A prospective, multicenter study was carried out over a period of 10 months. All patients with clinically significant bacteremia caused by Enterococcus spp. were included. The epidemiological, microbiological, clinical, and prognostic features and the relationship of these features to the presence of high-level resistance to gentamicin (HLRG) were studied. Ninety-three patients with enterococcal bacteremia were included, and 31 of these cases were caused by HLRG (33%). The multivariate analysis selected chronic renal failure, intensive care unit stay, previous use of antimicrobial agents, and Enterococcus faecalis species as the independent risk factors that influenced the development of HLRG. The strains with HLRG showed lower levels of susceptibility to penicillin and ciprofloxacin. Clinical features (except for chronic renal failure) were similar in both groups of patients. HLRG did not influence the prognosis for patients with enterococcal bacteremia in terms of either the crude mortality rate (29% for patients with bacteremia caused by enterococci with HLRG and 28% for patients not infected with strains with HLRG) or the hospital stay after the acquisition of enterococcal bacteremia. Hemodynamic compromise, inappropriate antimicrobial therapy, and mechanical ventilation were revealed in the multivariate analysis to be the independent risk factors for mortality. Prolonged hospitalization was associated with the nosocomial acquisition of bacteremia and polymicrobial infections.

An information management system for patients with tuberculosis: usability assessment with end-users.

PubMed

Darby, Jonathan; Black, Jim; Morrison, David; Buising, Kirsty

2012-01-01

Information systems with clinical decision support (CDS) offer great potential to assist the co-ordination of patients with chronic diseases and to improve patient care. Despite this, few have entered routine clinical use. Tuberculosis (TB) is an infection of public health importance. It has complex interactions with many comorbid conditions, requires close supervised care and prolonged treatment for effective cure. These features make it suitable for use with an information management system with CDS features. In close consultation with key stakeholders, a clinical application was developed for the management of TB patients in Victoria. A formal usability assessment using semi-structured case-scenario based exercises was performed. Subjects were 12 individuals closely involved in the care of TB patients, including Infectious Diseases and Respiratory Physicians, and Public Health Nurses. Two researchers conducted the sessions, independently analysed responses and discrepancies compared to the voice record for validity. Despite varied computer experience, responses were positive regarding user interface and content. Data location was not always intuitive, however this improved with familiarity of the program. Decision support was considered valuable, with useful suggestions for expansion of these features. Automated reporting for correspondence and notification to the Health Department were felt worth the initial investment in data entry. An important workflow-based issue regarding dismissal of alerts and several errors were detected. Usability assessment validated many design elements of the system, provided a unique insight into workflow issues faced by users and hopefully will impact on its ultimate clinical utility.

Both serum and tissue Galectin-1 levels are associated with adverse clinical features in neuroblastoma.

PubMed

Chen, Kai; Cai, Yuanxia; Zhang, Min; Wu, Zhixiang; Wu, Yeming

2018-05-24

Neuroblastoma is one of the most common pediatric solid tumors. Although the 5-year overall survival rate has increased over the past few decades, high-risk patients still have a poor prognosis due to a lack of biomonitoring therapy. This study was performed to investigate the role of Galectin-1 in neuroblastoma biomonitoring therapy. A tissue microarray containing 37 neuroblastoma tissue samples was used to evaluate the correlation between Galectin-1 expression and clinical features. Blood samples were examined to better understand whether serum Galectin-1 (sGalectin-1) could be used for biomonitoring therapy. Kaplan-Meier analysis and ROC analysis was conducted to distinguish the outcome associated with high or low expression of Galectin-1 in patients with neuroblastoma. Increased Galectin-1 expression was found in neuroblastoma and it was further demonstrated that elevated tissue Galectin-1 expression was related to INSS stage, histology, bone marrow metastasis, and poor survival. sGalectin-1 levels were higher in newly diagnosed patients with neuroblastoma than healthy subjects. Patients with elevated sGalectin-1 through treatment cycles correlated with the poor chemo-responses and tended to have worse outcomes, such as metastasis or stable tumor size, whereas gradually decreasing sGalectin-1 levels correlated with no observed progression in clinical symptoms. Tissue and serum Galectin-1 levels were associated with adverse clinical features in patients with neuroblastoma, and sGalectin-1 could be a potential biomarker for monitoring therapy. © 2018 Wiley Periodicals, Inc.

Exposures to traditional automatic dishwashing tablets and a comparison with exposures to soluble film tablets reported to the United Kingdom National Poisons Information Service 2008-2015.

PubMed

Day, Rachael; Eddleston, Michael; Thomas, Simon H L; Thompson, John P; Vale, J Allister

2017-03-01

Traditional automatic dishwashing tablets are contained within an external wrapper that requires removal prior to use. To determine the toxicity of traditional tablets and to compare this with our previously reported experience of soluble film dishwashing tablets. Telephone enquiries regarding traditional tablets were analysed retrospectively for the period January 2008 to December 2015. Traditional tablets: There were 503 enquiries relating to 492 patients who had been exposed to a traditional tablet. Most involved children aged 5 years or less (87.4%). The majority (78.6%) of patients did not develop symptoms after exposure; 21.1% developed minor (PSS 1) symptoms while one patient developed moderate features. Exposure occurred predominantly as a result of ingestion (n = 476, 96.7%); the most common feature in symptomatic patients (n = 99, 20.8%) was vomiting (70 [14.7%] cases). Significantly (p < 0.0001) more adults (44.9% of 49 adults; 95% CI = 31.9-58.7) were reported with features than children (18.2% of 434; 95% CI = 14.9-22.1). There were five cases of eye contact which resulted in eye pain in two patients and eye irritation in another. Only one of 11 patients exposed dermally developed features (a rash around the mouth). Comparison with soluble film exposures: The percentage of patients that were reported with clinical symptoms following ingestion of a soluble film dishwashing tablet (31.7% of 473 patients; 95% CI = 27.7-36.0) was significantly greater (p < 0.0001) than that for a traditional tablet (20.9% of 483 patients; 95% CI = 17.5-24.8). Vomiting was the most commonly reported feature and occurred significantly (p < 0.0001) more frequently amongst patients who had ingested a soluble film tablet (25.5%; 95% CI = 21.8-29.6) than a traditional tablet (14.7%; 95% CI = 11.8-18.1). Exposure to both traditional and soluble film tablets only rarely produced clinically significant symptoms (PSS ≥2). However, ingestion of a soluble film tablet was significantly more likely to result in clinical features than ingestion of a traditional tablet.

Histopathologic grading of anaplasia in retinoblastoma.

PubMed

Mendoza, Pia R; Specht, Charles S; Hubbard, G Baker; Wells, Jill R; Lynn, Michael J; Zhang, Qing; Kong, Jun; Grossniklaus, Hans E

2015-04-01

To determine whether the degree of tumor anaplasia has prognostic value by evaluating its correlation with high-risk histopathologic features and clinical outcomes in a series of retinoblastoma patients. Retrospective clinicopathologic study. The clinical and pathologic findings in 266 patients who underwent primary enucleation for retinoblastoma were reviewed. The histologic degree of anaplasia was graded as retinocytoma, mild, moderate, or severe as defined by increasing cellular pleomorphism, number of mitoses, nuclear size, and nuclear hyperchromatism. Nuclear morphometric characteristics were measured. The clinical and pathologic data of 125 patients were compared using Kaplan-Meier estimates of survival. Fisher exact test and multivariate regression were used to analyze the association between anaplasia grade and high-risk histologic features. Increasing grade of anaplasia was associated with decreased overall survival (P = .003) and increased risk of metastasis (P = .0007). Histopathologic features that were associated with anaplasia included optic nerve invasion (P < .0001), choroidal invasion (P < .0001), and anterior segment invasion (P = .04). Multivariate analysis considering high-risk histopathology and anaplasia grading as predictors of distant metastasis and death showed that high-risk histopathology was statistically significant as an independent predictor (P = .01 for metastasis, P = .03 for death) but anaplasia was not (P = .63 for metastasis, P = .30 for death). In the absence of high-risk features, however, severe anaplasia identified an additional risk for metastasis (P = .0004) and death (P = .01). Grading of anaplasia may be a useful adjunct to standard histopathologic criteria in identifying retinoblastoma patients who do not have high-risk histologic features but still have an increased risk of metastasis and may need adjuvant therapy. Copyright © 2015 Elsevier Inc. All rights reserved.

Primary central nervous system vasculitis and its mimicking diseases - clinical features, outcome, comorbidities and diagnostic results - A case control study.

PubMed

Becker, J; Horn, P A; Keyvani, K; Metz, I; Wegner, C; Brück, W; Heinemann, F M; Schwitalla, J C; Berlit, P; Kraemer, M

2017-05-01

To compare clinical features and outcome, imaging characteristics, biopsy results and laboratory findings in a cohort of 69 patients with suspected or diagnosed primary central nervous system vasculitis (PCNSV) in adults; to identify risk factors and predictive features for PCNSV. We performed a case-control-study including 69 patients referred with suspected PCNSV from whom 25 were confirmed by predetermined diagnostic criteria based on biopsy (72%) or angiography (28%). Forty-four patients turned out to have 15 distinct other diagnoses. Clinical and diagnostic data were compared between PCNSV and Non-PCNSV cohorts. Clinical presentation was not able to discriminate between PCNSV and its differential diagnoses. However, a worse clinical outcome was associated with PCNSV (p=0.005). Biopsy (p=0.004), contrast enhancement (p=0.000) or tumour-like mass lesion (p=0.008) in magnetic resonance imaging (MRI), intrathecal IgG increase (p=0.020), normal Duplex findings of cerebral arteries (p=0.022) and conventional angiography (p 0.010) were able to distinguish between the two cohorts. In a cohort of 69 patients with suspected PCNSV, a large number (64%) was misdiagnosed and partly received treatment, since mimicking diseases are very difficult to discriminate. Clinical presentation at manifestation does not help to differentiate PCNSV from its mimicking diseases. MRI and cerebrospinal fluid analysis are unlikely to be normal in PCNSV, though unspecific if pathological. Cerebral angiography and biopsy must complement other diagnostics when establishing the diagnosis in order to avoid misdiagnosis and mistreatment. German clinical trials register: http://drks-neu.uniklinik-freiburg.de/drks_web/, Unique identifier: DRKS00005347. Copyright © 2017 Elsevier B.V. All rights reserved.

Clinical, Pathological, and Surgical Outcomes for Adult Pineoblastomas.

PubMed

Gener, Melissa A; Conger, Andrew R; Van Gompel, Jamie; Ariai, Mohammad S; Jentoft, Mark; Meyer, Fredric B; Cardinal, Jeremy S; Bonnin, José M; Cohen-Gadol, Aaron A

2015-12-01

Pineoblastomas are uncommon primitive neuroectodermal tumors that occur mostly in children; they are exceedingly rare in adults. Few published reports have compared the various aspects of these tumors between adults and children. The authors report a series of 12 pineoblastomas in adults from 2 institutions over 24 years. The clinical, radiologic, and pathologic features and clinical outcomes were compared with previously reported cases in children and adults. Patient age ranged from 24 to 81 years, and all but 1 patient exhibited symptoms of obstructive hydrocephalus. Three patients underwent gross total resection, and subtotal resection was performed in 3 patients. Diagnostic biopsy specimens were obtained in an additional 6 patients. Pathologically, the tumors had the classical morphologic and immunohistochemical features of pineoblastomas. Postoperatively, 10 patients received radiotherapy, and 5 patients received chemotherapy. Compared with previously reported cases, several differences were noted in clinical outcomes. Of the 12 patients, only 5 (42%) died of their disease (average length of survival, 118 months); 5 patients (42%) are alive with no evidence of disease (average length of follow-up, 92 months). One patient died of unrelated causes, and one was lost to follow-up. Patients with subtotal resections or diagnostic biopsies did not suffer a worse prognosis. Of the 9 patients with biopsy or subtotal resection, 4 are alive, 4 died of their disease, and 1 died of an unrelated hemorrhagic cerebral infarction. Although this series is small, the data suggest that pineoblastomas in adults have a less aggressive clinical course than in children. Copyright © 2015 Elsevier Inc. All rights reserved.

Quantitative radiomics: impact of stochastic effects on textural feature analysis implies the need for standards

PubMed Central

Nyflot, Matthew J.; Yang, Fei; Byrd, Darrin; Bowen, Stephen R.; Sandison, George A.; Kinahan, Paul E.

2015-01-01

Abstract. Image heterogeneity metrics such as textural features are an active area of research for evaluating clinical outcomes with positron emission tomography (PET) imaging and other modalities. However, the effects of stochastic image acquisition noise on these metrics are poorly understood. We performed a simulation study by generating 50 statistically independent PET images of the NEMA IQ phantom with realistic noise and resolution properties. Heterogeneity metrics based on gray-level intensity histograms, co-occurrence matrices, neighborhood difference matrices, and zone size matrices were evaluated within regions of interest surrounding the lesions. The impact of stochastic variability was evaluated with percent difference from the mean of the 50 realizations, coefficient of variation and estimated sample size for clinical trials. Additionally, sensitivity studies were performed to simulate the effects of patient size and image reconstruction method on the quantitative performance of these metrics. Complex trends in variability were revealed as a function of textural feature, lesion size, patient size, and reconstruction parameters. In conclusion, the sensitivity of PET textural features to normal stochastic image variation and imaging parameters can be large and is feature-dependent. Standards are needed to ensure that prospective studies that incorporate textural features are properly designed to measure true effects that may impact clinical outcomes. PMID:26251842

Quantitative radiomics: impact of stochastic effects on textural feature analysis implies the need for standards.

PubMed

Nyflot, Matthew J; Yang, Fei; Byrd, Darrin; Bowen, Stephen R; Sandison, George A; Kinahan, Paul E

2015-10-01

Image heterogeneity metrics such as textural features are an active area of research for evaluating clinical outcomes with positron emission tomography (PET) imaging and other modalities. However, the effects of stochastic image acquisition noise on these metrics are poorly understood. We performed a simulation study by generating 50 statistically independent PET images of the NEMA IQ phantom with realistic noise and resolution properties. Heterogeneity metrics based on gray-level intensity histograms, co-occurrence matrices, neighborhood difference matrices, and zone size matrices were evaluated within regions of interest surrounding the lesions. The impact of stochastic variability was evaluated with percent difference from the mean of the 50 realizations, coefficient of variation and estimated sample size for clinical trials. Additionally, sensitivity studies were performed to simulate the effects of patient size and image reconstruction method on the quantitative performance of these metrics. Complex trends in variability were revealed as a function of textural feature, lesion size, patient size, and reconstruction parameters. In conclusion, the sensitivity of PET textural features to normal stochastic image variation and imaging parameters can be large and is feature-dependent. Standards are needed to ensure that prospective studies that incorporate textural features are properly designed to measure true effects that may impact clinical outcomes.

Clinical Features and Related Factors of Poststroke Pathological Laughing and Crying: A Case-Control Study.

PubMed

Wang, Geying; Teng, Fei; Chen, Yuhui; Liu, Yuanhua; Li, Yancheng; Cai, Li; Zhang, Xu; Nie, Zhiyu; Jin, Lingjing

2016-03-01

The purpose of this study was to analyze clinical features and related factors of poststroke pathological laughing and crying (PSPLC) and to differentiate PSPLC patients with and without pseudobulbar signs. We performed a case-control study in which 56 patients with PSPLC were matched to 56 control stroke patients by age and gender. The pathological laughing and crying scale was used to identify patients with PSPLC. Characteristics of PSPLC outbursts, presence of pseudobulbar signs and autonomic symptoms, lesion locations, and different clinical data were analyzed. Mild cognitive impairment (MCI) was evaluated by the Montreal Cognitive Assessment. Poststroke anger proneness (PSAP) was evaluated by comparison of the patients' premorbid states. Significantly more patients in the PSPLC group showed MCI, PSAP, and pseudobulbar signs than those in the control group. Most patients with PSPLC showed bilateral multiple lesions and the pons (especially the bilateral paramedian basal and basal-tegmental areas) stood out as the most important lesion location. Logistic regression analysis showed that pontine lesion, MCI, and PSAP were independently related to PSPLC; however, the presence of pseudobulbar signs was not related. PSPLC patients with pseudobulbar signs showed more recurrent strokes in the previous 2 years, more severe neurological deficits, as well as higher severity of PSPLC. In addition, more patients in the group with pseudobulbar signs showed concomitant autonomic symptoms. PSPLC, MCI, and PSAP could be manifestations of a more general disorder, in which pontine lesion plays an important role. PSPLC patients with pseudobulbar signs and those without show different features. Copyright © 2016 National Stroke Association. Published by Elsevier Inc. All rights reserved.

Chikungunya viral arthritis in the United States: a mimic of seronegative rheumatoid arthritis.

PubMed

Miner, Jonathan J; Aw-Yeang, Han-Xian; Fox, Julie M; Taffner, Samantha; Malkova, Olga N; Oh, Stephen T; Kim, Alfred H J; Diamond, Michael S; Lenschow, Deborah J; Yokoyama, Wayne M

2015-05-01

Chikungunya virus (CHIKV) is an arthritogenic mosquito-transmitted alphavirus that spread to the Caribbean in 2013 and to the US in 2014. CHIKV-infected patients develop inflammatory arthritis that can persist for months or years, but little is known about the rheumatologic and immunologic features of CHIKV-related arthritis in humans, particularly as compared to rheumatoid arthritis (RA). The purpose of this study was to describe these features in a group of 10 American travelers who were nearly simultaneously infected while visiting Haiti in June 2014. Patient history was obtained and physical examination and laboratory tests were performed. All patients with CHIKV-related arthritis had detectable levels of anti-CHIKV IgG. Using cytometry by time-of-flight (CyTOF), we analyzed peripheral blood mononuclear cells in CHIKV-infected patients, healthy controls, and patients with untreated, active RA. Among 10 CHIKV-infected individuals, 8 developed persistent symmetric polyarthritis that met the American College of Rheumatology/European League Against Rheumatism 2010 criteria for (seronegative) RA. CyTOF analysis revealed that RA and CHIKV-infected patients had greater percentages of activated and effector CD4+ and CD8+ T cells than healthy controls. In addition to similar clinical features, patients with CHIKV infection and patients with RA develop very similar peripheral T cell phenotypes. These overlapping clinical and immunologic features highlight a need for rheumatologists to consider CHIKV infection when evaluating patients with new, symmetric polyarthritis. © 2015, American College of Rheumatology.

The lateralising significance of hypergraphia in temporal lobe epilepsy.

PubMed

Roberts, J K; Robertson, M M; Trimble, M R

1982-02-01

Six patients with hypergraphia and epilepsy are presented and their clinical features compared with other patients reported in the literature. It is suggested that hypergraphia occurs more frequently in patients with right-sided non-dominant temporal lobe lesions, in contrast for example to the schizophreniform presentation of left-sided lesions. Other features of psychopathology possibly associated with non-dominant lesions, including elation, hypereligiosity and déjà vu experiences, are also discussed.

Clinicopathological features of pulmonary cryptococcosis with cryptococcal titan cells: a comparative analysis of 27 cases.

PubMed

Wang, Jing-Mei; Zhou, Qiang; Cai, Hou-Rong; Zhuang, Yi; Zhang, Yi-Fen; Xin, Xiao-Yan; Meng, Fan-Qing; Wang, Ya-Ping

2014-01-01

In addition to the typical size, Cryptococcus neoformans can enlarge its size to form titan cells during infection, and its diameter can reach up to 100 μm. Clinical reports about cryptococcal titan cells are rare. Most studies focus on aspects of animal models of infection with titan cells. Herein, we report the clinical and imaging characteristics and histopathologic features of 3 patients with titan cells and 27 patients with pathogens of typical size, and describe the morphological characteristics of titan cells in details. Histologically, 3 patients with titan cells show necrosis, fibrosis and macrophage accumulation. The titan cells appear in necrotic tissue and between macrophages, and have thick wall with unstained halo around them and diameters range from 20 to 80 μm with characteristic of narrow-necked single budding. There are also organisms with typical size. All 27 patients with normal pathogens show epithelioid granulomatous lesions. There is no significantly difference in clinical and imaging feature between the two groups. Cryptococcus neoformans exhibits a striking morphological change for the formation of titan cells during pulmonary infection, which will result in misdiagnosis and under diagnosis. The histopathological changes may be new manifestation, which need to be further confirmed by the study with animal models of infection and the observation of more clinical cases. Careful observation of the tissue sections is necessary.

Patient prognosis based on feature extraction, selection and classification of EEG periodic activity.

PubMed

Sánchez-González, Alain; García-Zapirain, Begoña; Maestro Saiz, Iratxe; Yurrebaso Santamaría, Izaskun

2015-01-01

Periodic activity in electroencephalography (PA-EEG) is shown as comprising a series of repetitive wave patterns that may appear in different cerebral regions and are due to many different pathologies. The diagnosis based on PA-EEG is an arduous task for experts in Clinical Neurophysiology, being mainly based on other clinical features of patients. Considering this difficulty in the diagnosis it is also very complicated to establish the prognosis of patients who present PA-EEG. The goal of this paper is to propose a method capable of determining patient prognosis based on characteristics of the PA-EEG activity. The approach, based on a parallel classification architecture and a majority vote system has proven successful by obtaining a success rate of 81.94% in the classification of patient prognosis of our database.

Impact of clinical and pathologic features on tumor-infiltrating lymphocyte expansion from surgically excised melanoma metastases for adoptive T-cell therapy

PubMed Central

Joseph, Richard W.; Peddareddigari, Vijay R.; Liu, Ping; Miller, Priscilla W.; Overwijk, Willem W.; Bekele, Nebiyou B.; Ross, Merrick I.; Lee, Jeffrey E.; Gershenwald, Jeffrey E.; Lucci, Anthony; Prieto, Victor G.; McMannis, John D.; Papadopoulos, Nicholas; Kim, Kevin; Homsi, Jade; Bedikian, Agop; Hwu, Wen-Jen; Hwu, Patrick; Radvanyi, Laszlo G.

2011-01-01

Purpose Clinical trials on adoptive T-cell therapy (ACT) using expanded tumor-infiltrating lymphocytes (TIL) have shown response rates of over 50% in refractory melanoma. However, little is known how clinical and pathologic features impact TIL outgrowth isolated from metastatic melanoma tumors. Experimental Design We analyzed the impact of clinical and pathologic features on initial TIL outgrowth in 226 consecutive patients undergoing tumor resection. Successful initial TIL outgrowth was defined as ≥40 million viable lymphocytes harvested from all tumor fragments in a 5-week culture. To normalize for the different size of resected tumors and thus available tumor fragments, we divided the number of expanded TIL by the starting number of tumor fragments (TIL/fragment). Results Overall, initial TIL outgrowth was successful in 62% of patients, with patients ≤30 years of age (94%; p=0.01) and female patients (71% vs. 57% for males; p=0.04) having the highest rate of success. Systemic therapy 30 days prior to tumor harvest negatively impacted initial TIL outgrowth compared to patients who never received systemic therapy (47% versus 71%, p=0.02). Biochemotherapy within 0–60 days of tumor harvest negatively impacted the initial TIL outgrowth with a success rate of only 16% (p<0.0001). Conclusion Parameters such as age, sex, and the type and timing of prior systemic therapy significantly affect the success rate of the initial TIL outgrowth from tumor fragments for ACT; these parameters may be helpful in selecting patients for melanoma ACT. PMID:21632855

Machine Learning methods for Quantitative Radiomic Biomarkers.

PubMed

Parmar, Chintan; Grossmann, Patrick; Bussink, Johan; Lambin, Philippe; Aerts, Hugo J W L

2015-08-17

Radiomics extracts and mines large number of medical imaging features quantifying tumor phenotypic characteristics. Highly accurate and reliable machine-learning approaches can drive the success of radiomic applications in clinical care. In this radiomic study, fourteen feature selection methods and twelve classification methods were examined in terms of their performance and stability for predicting overall survival. A total of 440 radiomic features were extracted from pre-treatment computed tomography (CT) images of 464 lung cancer patients. To ensure the unbiased evaluation of different machine-learning methods, publicly available implementations along with reported parameter configurations were used. Furthermore, we used two independent radiomic cohorts for training (n = 310 patients) and validation (n = 154 patients). We identified that Wilcoxon test based feature selection method WLCX (stability = 0.84 ± 0.05, AUC = 0.65 ± 0.02) and a classification method random forest RF (RSD = 3.52%, AUC = 0.66 ± 0.03) had highest prognostic performance with high stability against data perturbation. Our variability analysis indicated that the choice of classification method is the most dominant source of performance variation (34.21% of total variance). Identification of optimal machine-learning methods for radiomic applications is a crucial step towards stable and clinically relevant radiomic biomarkers, providing a non-invasive way of quantifying and monitoring tumor-phenotypic characteristics in clinical practice.

Different disease subtypes with distinct clinical expression in familial Mediterranean fever: results of a cluster analysis.

PubMed

Akar, Servet; Solmaz, Dilek; Kasifoglu, Timucin; Bilge, Sule Yasar; Sari, Ismail; Gumus, Zeynep Zehra; Tunca, Mehmet

2016-02-01

The aim of this study was to evaluate whether there are clinical subgroups that may have different prognoses among FMF patients. The cumulative clinical features of a large group of FMF patients [1168 patients, 593 (50.8%) male, mean age 35.3 years (s.d. 12.4)] were studied. To analyse our data and identify groups of FMF patients with similar clinical characteristics, a two-step cluster analysis using log-likelihood distance measures was performed. For clustering the FMF patients, we evaluated the following variables: gender, current age, age at symptom onset, age at diagnosis, presence of major clinical features, variables related with therapy and family history for FMF, renal failure and carriage of M694V. Three distinct groups of FMF patients were identified. Cluster 1 was characterized by a high prevalence of arthritis, pleuritis, erysipelas-like erythema (ELE) and febrile myalgia. The dosage of colchicine and the frequency of amyloidosis were lower in cluster 1. Patients in cluster 2 had an earlier age of disease onset and diagnosis. M694V carriage and amyloidosis prevalence were the highest in cluster 2. This group of patients was using the highest dose of colchicine. Patients in cluster 3 had the lowest prevalence of arthritis, ELE and febrile myalgia. The frequencies of M694V carriage and amyloidosis were lower in cluster 3 than the overall FMF patients. Non-response to colchicine was also slightly lower in cluster 3. Patients with FMF can be clustered into distinct patterns of clinical and genetic manifestations and these patterns may have different prognostic significance. © The Author 2015. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Pattern of congenital heart diseases in Rwandan children with genetic defects

PubMed Central

Teteli, Raissa; Uwineza, Annette; Butera, Yvan; Hitayezu, Janvier; Murorunkwere, Seraphine; Umurerwa, Lamberte; Ndinkabandi, Janvier; Hellin, Anne-Cécile; Jamar, Mauricette; Caberg, Jean-Hubert; Muganga, Narcisse; Mucumbitsi, Joseph; Rusingiza, Emmanuel Kamanzi; Mutesa, Leon

2014-01-01

Introduction Congenital heart diseases (CHD) are commonly associated with genetic defects. Our study aimed at determining the occurrence and pattern of CHD association with genetic defects among pediatric patients in Rwanda. Methods A total of 125 patients with clinical features suggestive of genetic defects were recruited. Echocardiography and standard karyotype studies were performed in all patients. Results CHDs were detected in the majority of patients with genetic defects. The commonest isolated CHD was ventricular septal defect found in many cases of Down syndrome. In total, chromosomal abnormalities represented the majority of cases in our cohort and were associated with various types of CHDs. Conclusion Our findings showed that CHDs are common in Rwandan pediatric patients with genetic defects. These results suggest that a routine echocardiography assessment combined with systematic genetic investigations including standard karyotype should be mandatory in patients presenting characteristic clinical features in whom CHD is suspected to be associated with genetic defect. PMID:25722758

An examination of generalized anxiety disorder and dysthymia utilizing the Rorschach inkblot method.

PubMed

Slavin-Mulford, Jenelle; Clements, Alyssa; Hilsenroth, Mark; Charnas, Jocelyn; Zodan, Jennifer

2016-06-30

This study examined transdiagnostic features of generalized anxiety disorder (GAD) and dysthymia in an outpatient clinical sample. Fifteen patients who met DSM-IV criteria for GAD and twenty-one patients who met DSM-IV criteria for dysthymia but who did not have comorbid anxiety disorder were evaluated utilizing the Rorschach. Salient clinical variables were then compared. Results showed that patients with GAD scored significantly higher on variables related to cognitive agitation and a desire/need for external soothing. In addition, there was a trend for patients with GAD to produce higher scores on a measure of ruminative focus on negative aspects of the self. Thus, not surprisingly, GAD patients' experienced more distress than the dysthymic patients. The implications of these findings are discussed with regards to better understanding the shared and distinct features of GAD and dysthymia. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Variable clinical presentations of secondary delusional infestation: an experience of six cases from a psychodermatology clinic.

PubMed

Altunay, Ilknur K; Ates, Bilge; Mercan, Sibel; Demirci, Gulsen Tukenmez; Kayaoglu, Semra

2012-01-01

Delusional Infestation (DI) is a relatively rare condition with a fixed belief of being infested with living organisms, despite a lack of medical evidence of such infestation. Although it seems to be a psychiatric disease, patients commonly are admitted to dermatology clinics because of skin findings. Psychiatrists can underestimate its prevalance, whereas dermatologists can miss the diagnosis. It should be managed as a psychodermatological disease. Our aim in the study was to evaluate six patients with different clinical presentations of DI and to emphasize some clinical features. All patients were internalized in the psychodermatology clinic for this study. Medical history and clinical data from dermatologic and psychiatric examinations were noted; Mini International Neuropsychiatric Interview (MINI-Plus) and laboratory investigations including blood and urine analyses, microscopic analysis of so-called pathogens, and skin biopsy if needed, were performed. The diagnosis was made based on detailed history, dermatologic and psychiatric examinations, and laboratory investigations. All patients had symptoms of itching, burning, or crawling sensations dermatologically and thus were admitted to dermatology clinic. They were all considered secondary DI to another medical condition or to psychiatric illness. Vitamin B12 deficiency, diabetes, and hypothyroidism were the underlying medical conditions. Related psychiatric illnesses were trichotillomania and schizoaffective disorder, schizophrenia, shared pychotic disorder, and brief psychotic disorder. Two patients had delusions of inanimate materials; four patients had partial and complete remissions; and two patients have dropped out. Each patient had different clinical characteristics creating diagnostic challenges. All complaints were related to the infestation of the skin. The presence of different psychiatric comorbidities is remarkable. It seems that both psychiatrists and dermatologists can face diagnostic and therapeutic challenges of this complex disease in clinical settings, particularly if there are unusual clinical features of DI. Therefore, both psychiatrists and dermatologists should be well aware of DI.

Clinical features and treatment of lactational mastitis: the experience from a binational study.

PubMed

Iatrakis, G; Zervoudis, S; Ceausu, I; Peitsidis, P; Tomara, I; Bakalianou, K; Hudita, D

2013-01-01

The characteristics of 38 patients with mastitis are listed in this study, including nationality, age, parity, history of mastitis, clinical and laboratory findings, and medical treatment. Differential diagnosis was mainly correlated to breast engorgement. Mastitis was primarily related to staphylococcus aureus and it was more common in primiparous patients.

Dengue fever outbreak: a clinical management experience.

PubMed

Ahmed, Shahid; Ali, Nadir; Ashraf, Shahzad; Ilyas, Mohammad; Tariq, Waheed-Uz-Zaman; Chotani, Rashid A

2008-01-01

To determine the frequency of dengue as a cause of fever and compare the clinical and haematological characteristics of Dengue-probable and Dengue-proven cases. An observational study. The Combined Military Hospital, Malir Cantt., Karachi, from August 2005 to December 2006. All patients with age above 14 years, who were either hospitalized or treated in medical outdoor clinic due to acute febrile illness, were evaluated for clinical features of Dengue Fever (DF), Dengue haemorrhagic fever (DHF) and Dengue Shock Syndrome (DSS). Patients showing typical clinical features and haematological findings suggestive of Dengue fever (As per WHO criteria) were evaluated in detail for comparison of probable and confirmed cases of Dengue fever. All other cases of acute febrile illness, not showing clinical features or haematological abnormalities of Dengue fever, were excluded. The clinical and laboratory features were recorded on SPSS 11.0 programme and graded where required, for descriptive and statistical analysis. Out of 5200 patients with febrile illness, 107(2%) presented with typical features of DF, 40/107(37%) were Dengue-proven while 67/107(63%) were Dengue-probable. Out of Dengue-proven cases, 38 were of DF and 2 were of DHF. Day 1 temperature ranged from 99-1050C (mean 1010C). Chills and rigors were noticed in 86 (80%), myalgia in 67%, headache in 54%, pharyngitis in 35%, rash in 28%, and bleeding manifestations in 2% cases. Hepatomegaly in 1(0.5%), lymphadenopathy in 1(0.5%) and splenomegaly in 12 (11.2%) cases. Leucopoenia (count<4x109 /L) was noted in 73%, platelet count<150 x109 /L in 84% and ALT>40 U/L in 57% cases. Frequency of clinically suspected dengue virus infection was 107 (2%), while confirmed dengue fever cases were 40 (0.8%) out of 5200 fever cases. Fever with chills and rigors, body aches, headache, myalgia, rash, haemorrhagic manifestations, platelet count, total leukocyte count, and ALT, are parameters to screen the cases of suspected dengue virus infection; the diagnosis cannot be confirmed unless supported by molecular studies or dengue specific IgM .

Predictive value of nailfold capillaroscopy in patients with Raynaud's phenomenon.

PubMed

Meli, Madeleine; Gitzelmann, Gabriela; Koppensteiner, Renate; Amann-Vesti, Beatrice R

2006-03-01

The objective of this study was to evaluate the long-term follow-up of patients with Raynaud's phenomenon (RP) and pathological nailfold capillaroscopy (NC) in order to analyse the predictive value of specific features of capillaroscopy for the development of a connective tissue disease (CTD). From 1992 to 2002, NC alone or combined with fluorescence videomicroscopy with sodium fluorescein (NaF) was performed in 1024 consecutive patients because of RP. We analysed the follow-up and pathological features of NC in all patients who had neither clinical nor serological signs of a CTD at the time of NC. Of 308 patients with neither serological findings nor clinical signs of CTD but with RP and pathological features in NC suspicious for CTD, follow-up data were available for 133 patients. An additional NaF test had been performed in 51 (38.4%) patients. After a mean follow-up of 6.5 years (range: 1-15 years), 109 patients had developed a CTD and 24 patients did not show any clinical signs or serological markers for a CTD after a mean follow-up of 8.5 years (range: 2-15 years). There were no differences in age, duration of RP or of follow-up in patients who developed a CTD compared to patients who did not. Significantly more giant capillaries (p=0.0001), avascular fields (p=0.02) and irregular architecture (p=0.0001) had been observed in patients who had developed a CTD during the follow-up of 6.5 years. The presence of giant capillaries, avascular fields and irregular architecture of nailfold capillaries is predictive for the development of a CTD in patients with RP.

Patterns of presentation and clinical features of toxicity after reported use of ([2-aminopropyl]-2,3-dihydrobenzofurans), the 'benzofuran' compounds. A report from the United Kingdom National Poisons Information Service.

PubMed

Kamour, Ashraf; James, David; Lupton, David J; Cooper, Gillian; Eddleston, Micheal; Vale, Allister; Thompson, John P; Thanacoody, Ruben; Hill, Simon L; Thomas, Simon H L

2014-12-01

To characterise the patterns of presentation and clinical features of toxicity following reported recreational use of benzofuran compounds ((2-aminopropyl)-2,3-dihydrobenzofurans) in the UK, as reported to the National Poisons Information Service (NPIS), and to compare clinical features of toxicity with those after reported mephedrone use. NPIS patient-specific telephone enquiries and user sessions for TOXBASE(®), the NPIS online information database, related to (2-aminopropyl)-2,3-dihydrobenzofurans and associated synonyms were reviewed from March 2009 to August 2013. These data were compared with those of mephedrone, the recreational substance most frequently reported to NPIS, collected over the same period. There were 63 telephone enquiries concerning 66 patients and 806 TOXBASE(®) user sessions regarding benzofuran compounds during the period of study. The first telephone enquiry was made in July 2010 and the highest numbers of enquiries were received in August 2010 (33 calls, 112 TOXBASE(®) sessions). Patients were predominantly male (82%) with a median age of 29 years; 9 reported co-ingestion of other substances. Comparing the 57 patients who reported ingesting benzofuran compounds alone with 315 patients ingesting mephedrone alone, benzofurans were more often associated with stimulant features, including tachycardia, hypertension, mydriasis, palpitation, fever, increased sweating, and tremor, (72% vs. 38%, odds ratio [OR] 4.2, 95% confidence interval [CI] 2.27-7.85, P < 0.0001) and mental health disturbances (58% vs. 38%, OR 2.3, 95% CI 1.29-4.07, P = 0.006). Other features reported after benzofuran compound ingestion included gastrointestinal symptoms (16%), reduced level of consciousness (9%), chest pain (7%), and creatinine kinase elevation (5%). Reported ingestion of benzofuran compounds is associated with similar toxic effects to those of amphetamines and cathinones. Mental health disturbances and stimulant features were reported more frequently following reported ingestion of benzofuran compounds than after ingestion of mephedrone.

Clinical features of 10 cases of eyelid sporotrichosis in Jilin Province (Northeast China).

PubMed

Fan, Bin; Wang, Jin-Feng; Zheng, Bin; Qi, Xin-Zhu; Song, Jing-Yao; Li, Guang-Yu

2016-08-01

Sporotrichosis is a common subcutaneous mycosis caused by an infection with dimorphic fungus Sporothrix schenckii. We present a series of patients with eyelid sporotrichosis and study the clinical and histopathological presentation, microbiology, treatment options, and outcome. A retrospective case-series study of patients with a clinical diagnosis of eyelid sporotrichosis. Records were examined to obtain information regarding patient demographics, presenting symptoms and signs, histopathological examination, microbiology, management, and outcomes. Ten patients (4 men, 6 women; mean age 46.5 years, range 3-81 years) were included. Based on their clinical manifestations, eyelid sporotrichosis was classified into 3 major forms: (i) fixed cutaneous (6/10 cases), (ii) lymphocutaneous (3/10 cases), and (iii) eyelid abscess (1/10 cases). All the cases were treated with a terbinafine 12-week regimen. Nodules, papules, and abscesses regressed after treatment. No recurrence was discovered after a 12-week follow-up. Eyelid sporotrichosis has typical features of clinical manifestations. Histopathological examination and tissue culture are helpful for diagnosis. Confirmed cases normally require long-term systematic treatment with antifungal agents, but surgical removal is normally unnecessary. Copyright © 2016 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved.

Malignant disease and dentistry.

PubMed

Walton, Graham; Seymour, Robin A

2009-11-01

Reports of an ageing population, increasing incidence of malignancy and improved treatments mean that dentists may have an increasing number of patients with, or who have recovered from, a malignancy. Dental professionals are expected to have an understanding of this important disease group so that appropriate dental care can be provided safely. In this first of three articles, we shall describe the important epidemiological and clinical features of the commonest malignancies in the United Kingdom. Dentists should understand the clinical implications of a patient with, or recovering from, a malignancy. This article gives a summary of the relevant features of the commonest malignancies.

Autoimmune pernicious anaemia as a cause of collapse, heart failure and marked panyctopaenia in a young patient.

PubMed

Carey, Justin; Hack, Ebru

2012-05-08

A 35-year-old woman with a history of vitiligo, hypothyroidism and amenorrhoea presented with collapse and clinical features of cardiac failure. Laboratory investigations revealed pancytopaenia, the cause of which was found to be vitamin B12 deficiency due to pernicious anaemia. Treatment with intramuscular hydroxycobalamin was commenced and the patient improved steadily with concomitant improvement in her haematological indices. Clinical features of pernicious anaemia which can include marked pancytopaenia, diagnostic approach, associated conditions and approach to treatment are discussed. The importance of surveillance for gastrointestinal malignancy is emphasised.

Autoimmune pernicious anaemia as a cause of collapse, heart failure and marked panyctopaenia in a young patient

PubMed Central

Carey, Justin; Hack, Ebru

2012-01-01

A 35-year-old woman with a history of vitiligo, hypothyroidism and amenorrhoea presented with collapse and clinical features of cardiac failure. Laboratory investigations revealed pancytopaenia, the cause of which was found to be vitamin B12 deficiency due to pernicious anaemia. Treatment with intramuscular hydroxycobalamin was commenced and the patient improved steadily with concomitant improvement in her haematological indices. Clinical features of pernicious anaemia which can include marked pancytopaenia, diagnostic approach, associated conditions and approach to treatment are discussed. The importance of surveillance for gastrointestinal malignancy is emphasised. PMID:22605831

Evolving Patient Compliance Trends: Integrating Clinical, Insurance, and Extrapolated Socioeconomic Data

PubMed Central

Klobusicky, Joseph J.; Aryasomayajula, Arun; Marko, Nicholas

2015-01-01

Efforts toward improving patient compliance in medication focus on either identifying trends in patient features or studying changes through an intervention. Our study seeks to provide an important link between these two approaches through defining trends of evolving compliance. In addition to using clinical covariates provided through insurance claims and health records, we also extracted census based data to provide socioeconomic covariates such as income and population density. Through creating quadrants based on periods of medicine intake, we derive several novel definitions of compliance. These definitions revealed additional compliance trends through considering refill histories later in a patient’s length of therapy. These results suggested that the link between patient features and compliance includes a temporal component, and should be considered in policymaking when identifying compliant subgroups. PMID:26958212

Salivary gland mucosa-associated lymphoid tissue lymphoma in 2 patients with Sjögren's syndrome: clinical and sonographic features with pathological correlation.

PubMed

Lewis, Khari; Vandervelde, Clive; Grace, Richard; Ramesar, Keith; Williams, Michael; Howlett, David C

2007-02-01

We report 2 cases of mucosa-associated lymphoid tissue lymphoma of the salivary glands, complicating Sjögren's syndrome. The sonographic and histological features are described in depth. The use of sonography as a diagnostic aid in such patients is discussed. (c) 2006 Wiley Periodicals, Inc.

Clinical evaluation of Morgellons disease in a cohort of North American patients

PubMed Central

Fesler, Melissa C.; Middelveen, Marianne J.; Stricker, Raphael B.

2018-01-01

Morgellons disease (MD) is a dermatological condition characterized by aberrant production of keratin and collagen fibers in skin. Although infection with Borrelia burgdorferi, the causative agent of Lyme disease (LD), has been associated with MD, relatively few studies have hitherto provided epidemiological evidence regarding this association. A cohort of 1000 seropositive North American LD patients was evaluated for the presence of MD. Patients were diagnosed with MD based on detection of microscopic fibers in skin lesions or under unbroken skin. Demographic and clinical features of MD patients were analyzed, and laboratory testing for tickborne coinfections and other infectious agents, was performed. Subjective and objective features of MD were analyzed using statistical methods. Of 1000 seropositive LD patients, 60 (6%) were diagnosed with MD. Of these 60 patients, 75% were female and 78% presented in the late disseminated stage of MD. All 60 patients (100%) were seropositive for B. burgdorferi infection. Tickborne coinfections in these patients included Babesia spp (62%), Bartonella and Rickettsia (25% each), Ehrlichia (15%) and Anaplasma (10%). Helicobacter pylori was detected in 12% of MD patients. In all, 77% of MD patients had one or more coinfections. This study confirms recent findings that MD occurs in a limited subset of LD patients. The clinical and genetic determinants of MD in LD patients require further study. PMID:29774138

Clinical evaluation of Morgellons disease in a cohort of North American patients.

PubMed

Fesler, Melissa C; Middelveen, Marianne J; Stricker, Raphael B

2018-04-23

Morgellons disease (MD) is a dermatological condition characterized by aberrant production of keratin and collagen fibers in skin. Although infection with Borrelia burgdorferi , the causative agent of Lyme disease (LD), has been associated with MD, relatively few studies have hitherto provided epidemiological evidence regarding this association. A cohort of 1000 seropositive North American LD patients was evaluated for the presence of MD. Patients were diagnosed with MD based on detection of microscopic fibers in skin lesions or under unbroken skin. Demographic and clinical features of MD patients were analyzed, and laboratory testing for tickborne coinfections and other infectious agents, was performed. Subjective and objective features of MD were analyzed using statistical methods. Of 1000 seropositive LD patients, 60 (6%) were diagnosed with MD. Of these 60 patients, 75% were female and 78% presented in the late disseminated stage of MD. All 60 patients (100%) were seropositive for B. burgdorferi infection. Tickborne coinfections in these patients included Babesia spp (62%), Bartonella and Rickettsia (25% each), Ehrlichia (15%) and Anaplasma (10%). Helicobacter pylori was detected in 12% of MD patients. In all, 77% of MD patients had one or more coinfections. This study confirms recent findings that MD occurs in a limited subset of LD patients. The clinical and genetic determinants of MD in LD patients require further study.

Influence of family history of major depression, bipolar disorder, and suicide on clinical features in patients with major depression and bipolar disorder.

PubMed

Serretti, Alessandro; Chiesa, Alberto; Calati, Raffaella; Linotte, Sylvie; Sentissi, Othman; Papageorgiou, Konstantinos; Kasper, Siegfried; Zohar, Joseph; De Ronchi, Diana; Mendlewicz, Julien; Amital, Daniela; Montgomery, Stuart; Souery, Daniel

2013-03-01

The extent to which a family history of mood disorders and suicide could impact on clinical features of patients suffering from major depression (MD) and bipolar disorder (BD) has received relatively little attention so far. The aim of the present work is, therefore, to assess the clinical implications of the presence of at least one first- and/or second-degree relative with a history of MD, BD and suicide in a large sample of patients with MD or BD. One thousand one hundred and fifty-seven subjects with MD and 686 subjects with BD were recruited within the context of two large projects. The impact of a family history of MD, BD, and suicide-considered both separately and together-on clinical and socio-demographic variables was investigated. A family history of MD, BD, and suicide was more common in BD patients than in MD patients. A positive family history of mood disorders and/or suicide as well as a positive family history of MD and BD separately considered, but not a positive history of suicide alone, were significantly associated with a comorbidity with several anxiety disorders and inversely associated with age of onset. The clinical implications as well as the limitations of our findings are discussed.

CLINICAL AND IMAGING FEATURES OF OTHELLO'S SYNDROME

PubMed Central

Graff-Radford, Jonathan; Whitwell, Jennifer L.; Geda, Yonas E.; Josephs, Keith A.

2011-01-01

Background Our objective was to document the clinical and imaging features of Othello's syndrome (delusional jealousy). Methods The study design was a retrospective case series of 105 patients with Othello's syndrome that were identified by using the Electronic Medical Record system of Mayo Clinic. Results The average age at onset of Othello's syndrome was 68 (25–94) years with 61.9% of patients being male. Othello's syndrome was most commonly associated with a neurological disorder (73/105) compared with psychiatric disorders (32/105). Of the patients with a neurological disorder, 76.7% had a neurodegenerative disorder. Seven of eight patients with a structural lesion associated with Othello's syndrome had right frontal lobe pathology. Voxel-based morphometry showed greater grey matter loss predominantly in the dorsolateral frontal lobes in the neurodegenerative patients with Othello's compared to matched patients with neurodegenerative disorders without Othello's syndrome. Treatment success was notable for patients with dopamine agonist induced Othello's syndrome in which all six patients had improvement in symptoms following decrease in medication. Conclusions This study demonstrates that Othello's syndrome occurs most frequently with neurological disorders. This delusion appears to be associated with dysfunction of the frontal lobes, especially right frontal lobe. PMID:21518145

Characteristics of Mild Cognitive Impairment Using the Thai Version of the Consortium to Establish a Registry for Alzheimer's Disease Tests: A Multivariate and Machine Learning Study.

PubMed

Tunvirachaisakul, Chavit; Supasitthumrong, Thitiporn; Tangwongchai, Sookjareon; Hemrunroj, Solaphat; Chuchuen, Phenphichcha; Tawankanjanachot, Itthipol; Likitchareon, Yuthachai; Phanthumchinda, Kamman; Sriswasdi, Sira; Maes, Michael

2018-04-04

The Consortium to Establish a Registry for Alzheimer's Disease (CERAD) developed a neuropsychological battery (CERAD-NP) to screen patients with Alzheimer's dementia. Mild cognitive impairment (MCI) has received attention as a pre-dementia stage. To delineate the CERAD-NP features of MCI and their clinical utility to externally validate MCI diagnosis. The study included 60 patients with MCI, diagnosed using the Clinical Dementia Rating, and 63 normal controls. Data were analysed employing receiver operating characteristic analysis, Linear Support Vector Machine, Random Forest, Adaptive Boosting, Neural Network models, and t-distributed stochastic neighbour embedding (t-SNE). MCI patients were best discriminated from normal controls using a combination of Wordlist Recall, Wordlist Memory, and Verbal Fluency Test. Machine learning showed that the CERAD features learned from MCI patients and controls were not strongly predictive of the diagnosis (maximal cross-validation 77.2%), whilst t-SNE showed that there is a considerable overlap between MCI and controls. The most important features of the CERAD-NP differentiating MCI from normal controls indicate impairments in episodic and semantic memory and recall. While these features significantly discriminate MCI patients from normal controls, the tests are not predictive of MCI. © 2018 S. Karger AG, Basel.

New clinical opportunities for retinal vascular imaging: adaptive optics to OCT angiography

NASA Astrophysics Data System (ADS)

Rosen, Richard; Chui, Toco; Weitz, Rishard; Dubra, Alfredo; Carroll, Joseph; Garcia, Patricia; Pinhas, Alexander; Scripsema, Nicole; Mo, Shelley; Agemy, Steven; Krawitz, Brian

2018-03-01

As techniques of retinal imaging have evolved, anatomic features that were only assessable in the laboratory have become available in the clinic for patient care. The retinal capillaries were initially described on microscope sections in the pathology laboratory. As optical methods have advanced these features have become part of the routine clinical landscape inspected daily by physicians. This paper briefly traces the evolution of these techniques and shows how they fit into the modern diagnostic armamentarium of ophthalmic retinal care.

Concomitant development of hypersexuality and delusional jealousy in patients with Parkinson's disease: a case series.

PubMed

Poletti, Michele; Lucetti, Claudio; Baldacci, Filippo; Del Dotto, Paolo; Bonuccelli, Ubaldo

2014-11-01

Both impulse-control disorders and delusional jealousy (DJ) may be considered non-motor side-effects of dopamine agonist therapy in Parkinson's disease (PD). We aimed to investigate the possible concomitant development of these features in PD and their clinical correlates. We performed a cross-sectional investigation in 1063 consecutive PD patients with the Questionnaire for Impulsive Compulsive Disorders in Parkinson's disease and the Parkinson's Psychosis Questionnaire. 81 patients presented ICDs (prevalence 7.61%) and 23 patients presented DJ (17 males, 6 females; prevalence 2.16%). 9 male PD patients presented both DJ and ICDs (39.13% of patients with DJ, 11.11% of patients with ICDs; prevalence of 0.84% in the whole PD sample), with a concomitant onset of delusional jealousy and hypersexuality in 8 cases and a concomitant onset of delusional jealousy and pathological gambling in 2 cases. Hypersexuality and delusional jealousy may occur independently in PD patients "on" dopamine agonist therapy, but may develop together probably reflecting a common alteration of sexuality (sexual arousal and jealousy) The presence of both of these clinical features and sexuality more in general should be investigated when features of either one of them appear. Further confirmation is needed in larger samples of patients. Copyright © 2014. Published by Elsevier Ltd.

Acute gastrointestinal vaso-occlusive ischemia in sickle cell disease: CT imaging features and clinical outcome.

PubMed

Gardner, Carly S; Jaffe, Tracy A

2016-03-01

The purpose of this study was to determine the incidence, specific imaging features, and outcome of gastrointestinal vaso-occlusive ischemia (GVOI) in sickle cell patients undergoing CT for acute abdominal pain. This HIPAA-compliant, IRB-approved retrospective study evaluated sickle cell patients with an abdominal pain crisis and acute gastrointestinal abnormalities on CT from 1/2006 to 1/2014. CT findings were divided into those compatible and incompatible with bowel ischemia or clinical diagnosis of GVOI. Two abdominal radiologists (1, 13 years' experience) reviewed the CTs for specific imaging features of ischemia. Clinical laboratory values (lactate, WBC) and outcome were recorded. Descriptive statistics and Wilcoxon-Mann-Whitney two-sample rank-sum test were performed. Of 217 CTs, 33 had acute gastrointestinal abnormalities: 75% (25/33) consistent with ischemia and clinical GVOI. Complications of ischemia occurred in 16% (4/25): ileus (50%), perforation (25%), and pneumatosis (25%). In uncomplicated cases, all had bowel wall thickening: segmental 52% (11/21) or diffuse 48% (10/21). The colon was commonly involved (76%, 16/21), particularly the ascending (57%, 12/21). Most abnormalities (52%, 11/21) were in the superior mesenteric artery distribution. Average lactate (4.3 ± 4.0 mmol/L, p = 0.02) and WBC count (20.1 ± 10.4, ×1000 cells/μL, p = 0.01) were significantly higher in GVOI. Overall mortality in patients with GVOI was 17% (3/18). GVOI is an important feature of the acute abdominal crisis in patients with sickle cell disease and can be seen in up to 75% of patients with abnormal bowel findings on CT. The diagnosis should be strongly considered in sickle cell patients with CT findings of diffuse or segmental bowel wall thickening, particularly involving the colon.

Difference of clinical phenotypes and immunological features of 22q11.2 deletion syndrome in north-eastern Thai children compare to western countries.

PubMed

Wichajam, Khunton; Kampan, Jureeporn

2014-10-01

22q11.2 deletion syndrome is a common microdeletion syndrome that affected various systems. To determine clinical phenotypes and immunologicalfeatures of 22q11.2 deletion syndrome in north-eastern Thai children compare to western countries. The authors described the clinical and immunological features in 20 north-eastern Thai children with 22q11.2 deletion syndrome that were followed-up at Srinagarind Hospital. Clinical phenotypes were facial dysmorphism (100%), congenital heart disease (80%) and cleft palate (30%). Prevalence of tetralogy of Fallot (TOF) in this syndrome was higher than in western. Serious infections were found including pneumonia, septicemia and brain abscess. Only a patient had panhypogammaglobulinemia and subsequently died. Selective IgA deficiency was not found. There was a twin patient conceivedfrom intracytoplasmic sperm injection (ICSI). TOF is more common in Asian patients than in western which different to selective IgA deficiency. The 22q11.2 deletion syndrome could be consequence from ICSI.

A comparison of clinical characteristics of older adults treated with antidepressants in general and psychiatric hospitals in Asia.

PubMed

Wang, Yuan-Yuan; Xiang, Yu-Tao; Ungvari, Gabor S; Ng, Chee H; Chiu, Helen F K; Yim, Larina C L; Si, Tian-Mei; Chee, Kok-Yoon; Avasthi, Ajit; Grover, Sandeep; Chong, Mian-Yoon; Sim, Kang; Kanba, Shigenobu; He, Yan-Ling; Lee, Min-Soo; Yang, Shu-Yu; Udomratn, Pichet; Kallivayalil, Roy A; Tanra, Andi J; Maramis, Margarita M; Shen, Winston W; Sartorius, Norman; Mahendran, Rathi; Teng, Jia-Ying; Tan, Chay-Hoon; Shinfuku, Naotaka

2017-11-01

This study compared the demographics, clinical characteristics, and antidepressant prescription patterns between Asian patients aged 50 years and older attending psychiatric hospitals and those attending general hospitals. In total, 955 patients (604 in general hospitals, 351 in psychiatric hospitals) aged 50 years or older treated with antidepressants in 10 Asian countries and territories were examined. Patients' demographics, clinical features, and prescriptions of psychotropic drugs were recorded using a standardized protocol and data collection procedure. Binary logistic regression revealed that high income and diagnosis of schizophrenia were independently associated with psychiatric hospital treatment, whereas outpatient care, diagnosis of anxiety disorders, and multiple major medical conditions were independently associated with general hospital treatment. In addition, tetracyclic and noradrenergic and specific serotonergic antidepressants were more likely to be prescribed in general hospitals. Older adults treated with antidepressants showed different demographic and clinical features between general hospitals and psychiatric hospitals in Asia. © 2017 Japanese Psychogeriatric Society.

Histopathological features of Proteus syndrome.

PubMed

Hoey, S E H; Eastwood, D; Monsell, F; Kangesu, L; Harper, J I; Sebire, N J

2008-05-01

Proteus syndrome is a rare, sporadic overgrowth disorder for which the underlying genetic defect remains unknown. Although the clinical course is well-described there is no systematic histopathological description of the lesional pathology. To describe the histopathological features encountered in a series of patients with Proteus syndrome from a single centre. Patients with Proteus syndrome who had undergone therapeutic surgical resection or biopsy were identified from a database and the histopathological findings were reviewed, with particular regard to descriptive features of the underlying tissue abnormality. There were 18 surgical specimens from nine patients, median age 4 years (range 1-9), classified into four main categories: soft-tissue swellings (lipomatous lesions), vascular anomalies (vascular malformation and haemangioma), macrodactyly (hamartomatous overgrowth) and others (sebaceous naevus and nonspecific features). In all cases, the clinical features of overgrowth were due to increased amounts of disorganized tissue, indicating a hamartomatous-type defect in which normal tissue constituents were present, but with an abnormal distribution and architecture. Vascular malformations represented a prominent category of lesions, accounting for 50% of the specimens, predominantly comprising lymphatic and lymphovascular malformations. No malignancy or cytological atypia was identified in any case. The histopathological features of lesions resected from children with Proteus syndrome predominantly include hamartomatous mixed connective tissue lesions, benign neoplasms such as lipomata, and lymphatic-rich vascular malformations.

Histology, Fusion Status, and Outcome in Alveolar Rhabdomyosarcoma With Low-Risk Clinical Features: A Report From the Children's Oncology Group.

PubMed

Arnold, Michael A; Anderson, James R; Gastier-Foster, Julie M; Barr, Frederic G; Skapek, Stephen X; Hawkins, Douglas S; Raney, R Beverly; Parham, David M; Teot, Lisa A; Rudzinski, Erin R; Walterhouse, David O

2016-04-01

Distinguishing alveolar rhabdomyosarcoma (ARMS) from embryonal rhabdomyosarcoma (ERMS) is of prognostic and therapeutic importance. Criteria for classifying these entities evolved significantly from 1995 to 2013. ARMS is associated with inferior outcome; therefore, patients with alveolar histology have generally been excluded from low-risk therapy. However, patients with ARMS and low-risk stage and group (Stage 1, Group I/II/orbit III; or Stage 2/3, Group I/II) were eligible for the Children's Oncology Group (COG) low-risk rhabdomyosarcoma (RMS) study D9602 from 1997 to 1999. The characteristics and outcomes of these patients have not been previously reported, and the histology of these cases has not been reviewed using current criteria. We re-reviewed cases that were classified as ARMS on D9602 using current histologic criteria, determined PAX3/PAX7-FOXO1 fusion status, and compared these data with outcome for this unique group of patients. Thirty-eight patients with ARMS were enrolled onto D9602. Only one-third of cases with slides available for re-review (11/33) remained classified as ARMS by current histologic criteria. Most cases were reclassified as ERMS (17/33, 51.5%). Cases that remained classified as ARMS were typically fusion-positive (8/11, 73%), therefore current classification results in a similar rate of fusion-positive ARMS for all clinical risk groups. In conjunction with data from COG intermediate-risk treatment protocol D9803, our data demonstrate excellent outcomes for fusion-negative ARMS with otherwise low-risk clinical features. Patients with fusion-positive RMS with low-risk clinical features should be classified and treated as intermediate risk, while patients with fusion-negative ARMS could be appropriately treated with reduced intensity therapy. © 2016 Wiley Periodicals, Inc.

The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy

DOE Office of Scientific and Technical Information (OSTI.GOV)

Mezghani, Najla; Mnif, Mouna; Mkaouar-Rebai, Emna, E-mail: emna_mkaouar@mail2world.com

Highlights: {yields} We reported a patient with Wolfram syndrome and dilated cardiomyopathy. {yields} We detected the ND1 mitochondrial m.3337G>A mutation in 3 tested tissues (blood leukocytes, buccal mucosa and skeletal muscle). {yields} Long-range PCR amplification revealed the presence of multiple mitochondrial deletions in the skeletal muscle. {yields} The deletions remove several tRNA and protein-coding genes. -- Abstract: Wolfram syndrome (WFS) is a rare hereditary disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). It is a heterogeneous disease and full characterization of all clinical and biological features of this disorder is difficult. The wide spectrum ofmore » clinical expression, affecting several organs and tissues, and the similarity in phenotype between patients with Wolfram syndrome and those with certain types of respiratory chain diseases suggests mitochondrial DNA (mtDNA) involvement in Wolfram syndrome patients. We report a Tunisian patient with clinical features of moderate Wolfram syndrome including diabetes, dilated cardiomyopathy and neurological complications. The results showed the presence of the mitochondrial ND1 m.3337G>A mutation in almost homoplasmic form in 3 tested tissues of the proband (blood leukocytes, buccal mucosa and skeletal muscle). In addition, the long-range PCR amplifications revealed the presence of multiple deletions of the mitochondrial DNA extracted from the patient's skeletal muscle removing several tRNA and protein-coding genes. Our study reported a Tunisian patient with clinical features of moderate Wolfram syndrome associated with cardiomyopathy, in whom we detected the ND1 m.3337G>A mutation with mitochondrial multiple deletions.« less

Congruence between patient characteristics and interventions may partly explain medication adherence intervention effectiveness: an analysis of 190 randomized controlled trials from a Cochrane systematic review.

PubMed

Allemann, Samuel S; Nieuwlaat, Robby; Navarro, Tamara; Haynes, Brian; Hersberger, Kurt E; Arnet, Isabelle

2017-11-01

Due to the negative outcomes of medication nonadherence, interventions to improve adherence have been the focus of countless studies. The congruence between adherence-related patient characteristics and interventions may partly explain the variability of effectiveness in medication adherence studies. In their latest update of a Cochrane review reporting inconsistent effects of adherence interventions, the authors offered access to their database for subanalysis. We aimed to use this database to assess congruence between adherence-related patient characteristics and interventions and its association with intervention effects. We developed a congruence score consisting of six features related to inclusion criteria, patient characteristics at baseline, and intervention design. Two independent raters extracted and scored items from the 190 studies available in the Cochrane database. We correlated overall congruence score and individual features with intervention effects regarding adherence and clinical outcomes using Kruskal-Wallis rank sum test and Fisher's exact test. Interrater reliability for newly extracted data was almost perfect with a Cohen's Kappa of 0.92 [95% confidence interval (CI) = 0.89-0.94; P < 0.001]. Although present in only six studies, the inclusion of nonadherent patients was the single feature significantly associated with effective adherence interventions (P = 0.003). Moreover, effective adherence interventions were significantly associated with improved clinical outcomes (odds ratio = 6.0; 95% CI = 3.1-12.0; P < 0.0001). However, neither the overall congruence score nor any other individual feature (i.e., "determinants of nonadherence as inclusion criteria," "tailoring of interventions to the inclusion criteria," "reasons for nonadherence assessed at baseline," "adjustment of intervention to individual patient needs," and "theory-based interventions") was significantly associated with intervention effects. The presence of only six studies that included nonadherent patients and the interdependency of this feature with the remaining five might preclude a conclusive assessment of congruence between patient characteristics and adherence interventions. In order to obtain clinical benefits from effective adherence interventions, we encourage researchers to focus on the inclusion of nonadherent patients. Copyright © 2017 Elsevier Inc. All rights reserved.

Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.

PubMed

Fernández-Rebollo, Eduardo; Lecumberri, Beatriz; Gaztambide, Sonia; Martinez-Indart, Lorea; Perez de Nanclares, Guiomar; Castaño, Luis

2013-05-01

Recent advances in genetics and epigenetics have revealed an overlap between molecular and clinical features of pseudohypoparathyroidism (PHP) subtypes, broadening the previous spectrum of PHP genotype-phenotype correlations and indicating limitations of the current classification of the disease. The aim of the study was to screen patients with clinical diagnoses of PHP type I or pseudo-PHP for underlying molecular defects and explore possible correlations between molecular findings and clinical features. We investigated the GNAS locus at the molecular level in 72 affected patients (46 women and 26 men) from 56 nonrelated families. Clinical data were obtained for 63 of these patients (38 women and 25 men). The molecular analysis showed that 35 patients carried structural mutations, 32 had loss of methylation, and 2 had a 2q37 deletion but did not reveal any (epi)mutation for 3 patients. Comparing these results and the clinical data, we observed that a younger age at diagnosis was associated with structural defects at the GNAS gene and epigenetic defects with a diagnosis later in life (9.19 ± 1.64 vs 24.57 ± 2.28 years, P < .0001). This first global review of PHP in Spain highlights the importance of a detailed clinical and genetic study of each patient and the integrated analysis of the findings from the two approaches. It may also help geneticists and clinicians to raise the suspicion of PHP earlier, reach more accurate diagnoses, and provide patients with PHP and their families with useful genetic information and counseling, thereby improving outcomes and quality of life.

Incidental prostate cancer at the time of cystectomy: the incidence and clinicopathological features in Chinese patients.

PubMed

Pan, Jiahua; Xue, Wei; Sha, Jianjun; Yang, Hu; Xu, Fan; Xuan, Hanqing; Li, Dong; Huang, Yiran

2014-01-01

To evaluate the incidence and the clinicopathological features of incidental prostate cancer detected in radical cystoprostatectomy (RCP) specimens in Chinese men and to estimate the oncological risk of prostate apex-sparing surgery for such patients. The clinical data and pathological feature of 504 patients who underwent RCP for bladder cancer from January 1999 to March 2013 were retrospectively reviewed. Whole mount serial section of the RCP specimens were cut transversely at 3-4 mm intervals and examined in same pathological institution. Thirty-four out of 504 patients (6.8%) had incidental prostate cancer with a mean age of 70.3 years. 12 cases (35.2%) were diagnosed as significant disease. 4 cases were found to have apex involvement of adenocarcinoma of the prostate while in 5 cases the prostate stroma invasion by urothelial carcinoma were identified (one involved prostate apex). The mean follow-up time was 46.4±33.8 months. Biochemical recurrence occurred in 3 patients but no prostate cancer-related death during the follow-up. There was no statistical significance in cancer specific survival between the clinically significant and insignificant cancer group. The prevalence of incidental prostate cancer in RCP specimens in Chinese patients was remarkably lower than in western people. Most of the incidental prostate cancer was clinically insignificant and patient's prognosis was mainly related to the bladder cancer. Sparing the prostate apex was potentially associated with a 1.0% risk of leaving significant cancer of the prostate or urothelial carcinoma.

BRIEF REPORT: Beyond Clinical Experience: Features of Data Collection and Interpretation That Contribute to Diagnostic Accuracy

PubMed Central

Nendaz, Mathieu R; Gut, Anne M; Perrier, Arnaud; Louis-Simonet, Martine; Blondon-Choa, Katherine; Herrmann, François R; Junod, Alain F; Vu, Nu V

2006-01-01

BACKGROUND Clinical experience, features of data collection process, or both, affect diagnostic accuracy, but their respective role is unclear. OBJECTIVE, DESIGN Prospective, observational study, to determine the respective contribution of clinical experience and data collection features to diagnostic accuracy. METHODS Six Internists, 6 second year internal medicine residents, and 6 senior medical students worked up the same 7 cases with a standardized patient. Each encounter was audiotaped and immediately assessed by the subjects who indicated the reasons underlying their data collection. We analyzed the encounters according to diagnostic accuracy, information collected, organ systems explored, diagnoses evaluated, and final decisions made, and we determined predictors of diagnostic accuracy by logistic regression models. RESULTS Several features significantly predicted diagnostic accuracy after correction for clinical experience: early exploration of correct diagnosis (odds ratio [OR] 24.35) or of relevant diagnostic hypotheses (OR 2.22) to frame clinical data collection, larger number of diagnostic hypotheses evaluated (OR 1.08), and collection of relevant clinical data (OR 1.19). CONCLUSION Some features of data collection and interpretation are related to diagnostic accuracy beyond clinical experience and should be explicitly included in clinical training and modeled by clinical teachers. Thoroughness in data collection should not be considered a privileged way to diagnostic success. PMID:17105525

Vascular Cognitive Impairment in a Memory Clinic Population: Rationale and Design of the "Utrecht-Amsterdam Clinical Features and Prognosis in Vascular Cognitive Impairment" (TRACE-VCI) Study.

PubMed

Boomsma, Jooske Marije Funke; Exalto, Lieza Geertje; Barkhof, Frederik; van den Berg, Esther; de Bresser, Jeroen; Heinen, Rutger; Koek, Huiberdina Lena; Prins, Niels Daniël; Scheltens, Philip; Weinstein, Henry Chanoch; van der Flier, Wiesje Maria; Biessels, Geert Jan

2017-04-19

Vascular Cognitive Impairment (VCI) refers to cognitive dysfunction due to vascular brain injury, as a single cause or in combination with other, often neurodegenerative, etiologies. VCI is a broad construct that captures a heterogeneous patient population both in terms of cognitive and noncognitive symptoms and in terms of etiology and prognosis. This provides a challenge when applying this construct in clinical practice. This paper presents the rationale and design of the TRACE-VCI study, which investigates the clinical features and prognosis of VCI in a memory clinic setting. The TRACE-VCI project is an observational, prospective cohort study of 861 consecutive memory clinic patients with possible VCI. Between 2009 and 2013, patients were recruited through the Amsterdam Dementia Cohort of the VU University Medical Centre (VUMC) (N=665) and the outpatient memory clinic and VCI cohort of the University Medical Centre Utrecht (UMCU) (N=196). We included all patients attending the clinics with magnetic resonance imaging (MRI) evidence of vascular brain injury. Patients with a primary etiology other than vascular brain injury or neurodegeneration were excluded. Patients underwent an extensive 1-day memory clinic evaluation including an interview, physical and neurological examination, assessment of biomarkers (including those for Alzheimer-type pathologies), extensive neuropsychological testing, and an MRI scan of the brain. For prognostic analyses, the composite primary outcome measure was defined as accelerated cognitive decline (change of clinical dementia rating ≥1 or institutionalization) or (recurrent) major vascular events or death over the course of 2 years. The mean age at baseline was 67.7 (SD 8.5) years and 46.3% of patients (399/861) were female. At baseline, the median Clinical Dementia Rating was 0.5 (interquartile range [IQR] 0.5-1.0) and the median Mini-Mental State Examination score was 25 (IQR 22-28). The clinical diagnosis at baseline was dementia in 52.4% of patients (451/861), mild cognitive impairment in 24.6% (212/861), and no objective cognitive impairment in the remaining 23.0% (198/861). The TRACE-VCI study represents a large cohort of well-characterized patients with VCI in a memory clinic setting. Data processing and collection for follow-up are currently being completed. The TRACE-VCI study will provide insight into the clinical features of memory clinic patients that meet VCI criteria and establish key prognostic factors for further cognitive decline and (recurrent) major vascular events. ©Jooske Marije Funke Boomsma, Lieza Geertje Exalto, Frederik Barkhof, Esther van den Berg, Jeroen de Bresser, Rutger Heinen, Huiberdina Lena Koek, Niels Daniël Prins, Philip Scheltens, Henry Chanoch Weinstein, Wiesje Maria van der Flier, Geert Jan Biessels. Originally published in JMIR Research Protocols (http://www.researchprotocols.org), 19.04.2017.

Risk of Thyroid Cancer in Euthyroid Asymptomatic Patients with Thyroid Nodules with an Emphasis on Family History of Thyroid Cancer.

PubMed

Hwang, Shin Hye; Kim, Eun-Kyung; Moon, Hee Jung; Yoon, Jung Hyun; Kwak, Jin Young

2016-01-01

To determine the factors associated with thyroid cancer, focusing on first-degree family history and ultrasonography (US) features, in euthyroid asymptomatic patients with thyroid nodules. This retrospective study included 1310 thyroid nodules of 1254 euthyroid asymptomatic patients who underwent US-guided fine-needle aspiration biopsy between November 2012 and August 2013. Nodule size and clinical risk factors-such as patient age, gender, first-degree family history of thyroid cancer, multiplicity on US and serum thyroid stimulating hormone (TSH) levels-were considered together with US features to compare benign and malignant nodules. Multiple logistic regression analysis was performed to assess the risk of thyroid malignancy according to clinical and US characteristics. Although all of the clinical factors and US findings were significantly different between patients with benign and malignant nodules, a solitary lesion on US (p = 0.041-0.043), US features and male gender (p < 0.001) were significant independent risk factors for thyroid malignancy in a multivariate analysis. Patient age, a first-degree family history of thyroid cancer and high normal serum TSH levels did not independently significantly increase the risk of thyroid cancer. However, multicollinearity existed between US assessment and patient age, first-degree family history of thyroid cancer and serum TSH values. Ultrasonography findings should be the primary criterion used to decide the management of euthyroid asymptomatic patients with thyroid nodules. The concept of first-degree family history as a risk factor for thyroid malignancy should be further studied in asymptomatic patients.

[The clinical and pathologic features of Charcot-Marie-Tooth disease].

PubMed

Xiao, Bo; Xie, Jusheng; Yang, Xiaosu; Wu, Zhiguo; Xiao, Jianfeng; Li, Jing

2002-11-01

To study the clinical and pathological features of Charcot-Marie-Tooth disease (CMT). The general clinical data, the changes of neuroelectrophysiology and the pathological features of neural and muscular biopsy of 20 CMT patients were comprehensively analyzed. The clinical manifestations in the two types of CMT were nearly the same, but the changes of neuroelectrophysiology and the pathological characteristics of the neural and muscular biopsy in the two types were obviously different. 16 cases of CMT type 1 were characterized by decreased sensory nerve conduction velocity (SNCV < 30 m/s) and are associated with demyelinating hypertrophic neuropathy. 4 cases of CMT tylpe 2 were characterized by normal SNCV and associated with axonopathy. Neuroelectrophysiology and neural and muscular biopsy are important for the diagnosis of CMT.

Fecal level of calprotectin identifies histologic inflammation in patients with ulcerative colitis in clinical and endoscopic remission.

PubMed

Guardiola, Jordi; Lobatón, Triana; Rodríguez-Alonso, Lorena; Ruiz-Cerulla, Alexandra; Arajol, Claudia; Loayza, Carolina; Sanjuan, Xavier; Sánchez, Elena; Rodríguez-Moranta, Francisco

2014-11-01

Histologic recovery of patients with ulcerative colitis (UC) often is incomplete, even among those in clinical and endoscopic remission. Persistent active microscopic inflammation is associated with an increased risk of relapse and colorectal neoplasia. A high level of fecal calprotectin (FC) is a reliable marker of endoscopic lesions in patients with UC. We evaluated the accuracy of FC in identifying patients with UC in clinical and endoscopic remission who still have histologic features of inflammation. We performed a prospective observational study of 59 patients with UC in clinical and endoscopic remission undergoing colonoscopy. Several biopsy specimens were collected from each colonic segment. Endoscopic remission was defined as a Mayo endoscopic subscore with a grade of 0 or 1. Active histologic inflammation was defined by the presence of neutrophils infiltrating crypt epithelial cells. FC was determined by enzyme-linked immunosorbent assay analysis. Eighteen patients (30.5%) showed evidence of active histologic inflammation. Patients with active histologic inflammation had a significantly higher median level of FC (278 μg/g; interquartile range, 136-696 μg/g) than those without active histologic inflammation (68 μg/g; interquartile range, 30-172 μg/g) (P = .002). In multivariate analysis, the FC and Mayo endoscopic subscore (0 or 1) were each independent predictors of histologic inflammation. The level of FC identified active histologic inflammation in patients in clinical and endoscopic remission, with an area under the receiver operator characteristic curve value of 0.754. Histologic inflammation is common among patients with UC in clinical and endoscopic remission. Patients with histologic features of inflammation can be identified reliably based on their fecal level of calprotectin. Copyright © 2014 AGA Institute. Published by Elsevier Inc. All rights reserved.

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

PubMed Central

Montaño, Adriana M; Lock-Hock, Ngu; Steiner, Robert D; Graham, Brett H; Szlago, Marina; Greenstein, Robert; Pineda, Mercedes; Gonzalez-Meneses, Antonio; Çoker, Mahmut; Bartholomew, Dennis; Sands, Mark S; Wang, Raymond; Giugliani, Roberto; Macaya, Alfons; Pastores, Gregory; Ketko, Anastasia K; Ezgü, Fatih; Tanaka, Akemi; Arash, Laila; Beck, Michael; Falk, Rena E; Bhattacharya, Kaustuv; Franco, José; White, Klane K; Mitchell, Grant A; Cimbalistiene, Loreta; Holtz, Max; Sly, William S

2016-01-01

Background Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients’ phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder forms with fewer manifestations and mild skeletal abnormalities. Accurate assessments on the frequency and clinical characteristics of the disease have been scarce. The aim of this study was to collect such data. Methods We have conducted a survey of physicians to document the medical history of patients with MPS VII. The survey included anonymous information on patient demographics, family history, mode of diagnosis, age of onset, signs and symptoms, severity, management, clinical features and natural progression of the disease. Results We collected information on 56 patients from 11 countries. Patients with MPS VII were classified based on their phenotype into three different groups: (1) neonatal non-immune hydrops fetalis (NIHF) (n=10), (2) Infantile or adolescent form with history of hydrops fetalis (n=13) and (3) Infantile or adolescent form without known hydrops fetalis (n=33). Thirteen patients with MPS VII who had the infantile form with history of hydrops fetalis and survived childhood, had a wide range of clinical manifestations from mild to severe. Five patients underwent bone marrow transplantation and one patient underwent enzyme replacement therapy with recombinant human GUS. Conclusions MPS VII is a pan-ethnic inherited lysosomal storage disease with considerable phenotypical heterogeneity. Most patients have short stature, skeletal dysplasia, hepatosplenomegaly, hernias, cardiac involvement, pulmonary insufficiency and cognitive impairment. In these respects it resembles MPS I and MPS II. In MPS VII, however, one unique and distinguishing clinical feature is the unexpectedly high proportion of patients (41%) that had a history of NIHF. Presence of NIHF does not, by itself, predict the eventual severity of the clinical course, if the patient survives infancy. PMID:26908836

Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.

PubMed

Orrico, A; Galli, L; Faivre, L; Clayton-Smith, J; Azzarello-Burri, S M; Hertz, J M; Jacquemont, S; Taurisano, R; Arroyo Carrera, I; Tarantino, E; Devriendt, K; Melis, D; Thelle, T; Meinhardt, U; Sorrentino, V

2010-02-01

Mutations in the FGD1 gene have been shown to cause Aarskog-Scott syndrome (AAS), or facio-digito-genital dysplasia (OMIM#305400), an X-linked disorder characterized by distinctive genital and skeletal developmental abnormalities with a broad spectrum of clinical phenotypes. To date, 20 distinct mutations have been reported, but little phenotypic data are available on patients with molecularly confirmed AAS. In the present study, we report on our experience of screening for mutations in the FGD1 gene in a cohort of 60 European patients with a clinically suspected diagnosis of AAS. We identified nine novel mutations in 11 patients (detection rate of 18.33%), including three missense mutations (p.R402Q; p.S558W; p.K748E), four truncating mutations (p.Y530X; p.R656X; c.806delC; c.1620delC), one in-frame deletion (c.2020_2022delGAG) and the first reported splice site mutation (c.1935+3A>C). A recurrent mutation (p.R656X) was detected in three independent families. We did not find any evidence for phenotype-genotype correlations between type and position of mutations and clinical features. In addition to the well-established phenotypic features of AAS, other clinical features are also reported and discussed. Copyright 2010 Wiley-Liss, Inc.

Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.

PubMed

Vivante, Asaf; Hwang, Daw-Yang; Kohl, Stefan; Chen, Jing; Shril, Shirlee; Schulz, Julian; van der Ven, Amelie; Daouk, Ghaleb; Soliman, Neveen A; Kumar, Aravind Selvin; Senguttuvan, Prabha; Kehinde, Elijah O; Tasic, Velibor; Hildebrandt, Friedhelm

2017-01-01

Congenital anomalies of the kidneys and urinary tract (CAKUT) are the leading cause of CKD in children, featuring a broad variety of malformations. A monogenic cause can be detected in around 12% of patients. However, the morphologic clinical phenotype of CAKUT frequently does not indicate specific genes to be examined. To determine the likelihood of detecting causative recessive mutations by whole-exome sequencing (WES), we analyzed individuals with CAKUT from 33 different consanguineous families. Using homozygosity mapping and WES, we identified the causative mutations in nine of the 33 families studied (27%). We detected recessive mutations in nine known disease-causing genes: ZBTB24, WFS1, HPSE2, ATRX, ASPH, AGXT, AQP2, CTNS, and PKHD1 Notably, when mutated, these genes cause multiorgan syndromes that may include CAKUT as a feature (syndromic CAKUT) or cause renal diseases that may manifest as phenocopies of CAKUT. None of the above monogenic disease-causing genes were suspected on clinical grounds before this study. Follow-up clinical characterization of those patients allowed us to revise and detect relevant new clinical features in a more appropriate pathogenetic context. Thus, applying WES to the diagnostic approach in CAKUT provides opportunities for an accurate and early etiology-based diagnosis and improved clinical management. Copyright © 2016 by the American Society of Nephrology.

Basal cell carcinoma induced by therapeutic radiation for tinea capitis-clinicopathological study.

PubMed

Oshinsky, Shlomit; Baum, Sharon; Huszar, Monica; Debby, Assaf; Barzilai, Aviv

2018-02-21

An increased prevalence of aggressive histological subtypes, such as micronodular and morpheaform, has been seen, irrespective of the clinical course, in basal cell carcinoma (BCC) following irradiation for tinea capitis. The aim of this study was to assess the histopathological features of BCCs among patients irradiated for tinea capitis and correlate them with the clinical course. The medical records and BCC biopsy specimens of individuals who were previously irradiated for tinea capitis were reviewed. Demographic data and clinical characteristics were retrieved. Biopsy specimens were evaluated for histological subtype classification and additional histopathological features. A telephone survey was conducted to assess the clinical behaviour of the tumours. Thirty-one patients (17 male; 14 female) were included. The average age at time of first biopsy was 56 years. The total number of lesions was 185, with 80% of subjects showing multiple lesions. The nodular subtype was the most prevalent, followed by superficial, micronodular and mixed tumours. One-third of the BCCs could be classified as aggressive histologically. Stromal fibroplasia and melanin deposits were common. There was no mortality related to BCC. None of the 17 patients who completed the survey had evidence of local invasiveness or metastases. BCCs following radiation therapy for tinea capitis show unique histological characteristics related to aggressive behaviour. These aggressive features did not reflect the clinical behaviour in the current cohort. © 2018 John Wiley & Sons Ltd.

US-guided percutaneous cholecystostomy: features predicting culture-positive bile and clinical outcome.

PubMed

Sosna, Jacob; Kruskal, Jonathan B; Copel, Laurian; Goldberg, S Nahum; Kane, Robert A

2004-03-01

To assess sonographic and clinical features that might be used to predict infected bile and/or patient outcome from ultrasonography (US)-guided percutaneous cholecystostomy. Between February 1997 and August 2002 at one institution, 112 patients underwent US-guided percutaneous cholecystostomy (59 men, 53 women; average age, 69.3 years). All US images were scored on a defined semiquantitative scale according to preset parameters: (a) gallbladder distention, (b) sludge and/or stones, (c) wall appearance, (d) pericholecystic fluid, and (e) common bile duct size and/or choledocholithiasis. Separate and total scores were generated. Retrospective evaluation of (a) the bacteriologic growth of aspirated bile and its color and (b) clinical indices (fever, white blood cell count, bilirubin level, liver function test results) was conducted by reviewing medical records. For each patient, the clinical manifestation was classified into four groups: (a) localized right upper quadrant symptoms, (b) generalized abdominal symptoms, (c) unexplained sepsis, or (d) sepsis with other known infection. Logistic regression models, exact Wilcoxon-Mann-Whitney test, and the Kruskal-Wallis test were used. Forty-seven (44%) of 107 patients had infected bile. A logistic regression model showed that wall appearance, distention, bile color, and pericholecystic fluid were not individually significant predictors for culture-positive bile, leaving sludge and/or stones (P =.003, odds ratio = 1.647), common bile duct status (P =.02, odds ratio = 2.214), and total score (P =.007, odds ratio = 1.267). No US covariates or clinical indices predicted clinical outcome. Clinical manifestation was predictive of clinical outcome (P =.001) and aspirating culture-positive bile (P =.008); specifically, 30 (86%) of 35 patients with right upper quadrant symptoms had their condition improve, compared with one (7%) of 15 asymptomatic patients with other known causes of infection. US variables can be used to predict culture-positive bile but not patient outcome. Clinical manifestation is important because patients with right upper quadrant symptoms have the best clinical outcome. Copyright RSNA, 2004

Quality of life in anorexia nervosa, bulimia nervosa and eating disorder not-otherwise-specified

PubMed Central

2013-01-01

Background This study aimed to assess differences in Quality of Life (QoL) across eating disorder (ED) diagnoses, and to examine the relationship of QoL to specific clinical features. Results 199 patients with a diagnosed ED completed the Clinical Impairment Assessment (CIA) [Cognitive Behavior Therapy and Eating Disorders, 315–318, 2008] and the Eating Disorders Examination (EDE) [Int J Eat Disord 6:1–8]. Differences between diagnostic groups were examined, as were differences between restrictive and binge-purge subtypes. CIA scores and EDE scores were positively correlated and higher in groups with binge-purge behaviours. CIA scores were not correlated with BMI, illness duration or frequency of bingeing/purging behaviours, except in the binge-purge AN group, where CIA scores negatively correlated with BMI. Conclusions Patients with EDs have poor QoL and impairment increases with illness severity. Patients with binge/purge diagnoses are particularly impaired. It remains unclear which clinical features best predict the degree of impairment experienced by patients with EDs. PMID:24999421

Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture.

PubMed

Lee, Younggun; Lee, Jung Hwan; Park, Hyung Jun; Choi, Young Chul

2017-10-01

The early diagnosis of LMNA-associated muscular dystrophy is important for preventing sudden arrest related to cardiac conduction block. However, diagnosing early-onset Emery-Dreifuss muscular dystrophy (EDMD) with later involvement of contracture and limb-girdle muscular dystrophy type 1B is often delayed due to heterogeneous clinical presentations. We aimed to determine the clinical features that contribute to a delayed diagnosis. We reviewed four patients who were recently diagnosed with LMNA-associated muscular dystrophy by targeted exome sequencing and who were initially diagnosed with nonspecific or other types of muscular dystrophy. Certain clinical features such as delayed contracture involvement and calf hypertrophy were found to contribute to a delayed diagnosis. Muscle biopsies were not informative for the diagnosis in these patients. Genetic testing of single or multiple genes is useful for confirming a diagnosis of LMNA-associated muscular dystrophy. Even EDMD patients could experience the later involvement of contracture, so clinicians should consider early genetic testing for patients with undiagnosed muscular dystrophy or laminopathy. Copyright © 2017 Korean Neurological Association

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.

PubMed

Nesbitt, Victoria; Pitceathly, Robert D S; Turnbull, Doug M; Taylor, Robert W; Sweeney, Mary G; Mudanohwo, Ese E; Rahman, Shamima; Hanna, Michael G; McFarland, Robert

2013-08-01

Population-based studies suggest the m.3243A>G mutation in MTTL1 is the most common disease-causing mtDNA mutation, with a carrier rate of 1 in 400 people. The m.3243A>G mutation is associated with several clinical syndromes including mitochondrial encephalopathy lactic acidosis and stroke-like episodes (MELAS), maternally inherited deafness and diabetes (MIDD) and progressive external ophthalmoplegia (PEO). Many patients affected by this mutation exhibit a clinical phenotype that does not fall within accepted criteria for the currently recognised classical mitochondrial syndromes. We have defined the phenotypic spectrum associated with the m.3243A>G mtDNA mutation in 129 patients, from 83 unrelated families, recruited to the Mitochondrial Disease Patient Cohort Study UK. 10% of patients exhibited a classical MELAS phenotype, 30% had MIDD, 6% MELAS/MIDD, 2% MELAS/chronic PEO (CPEO) and 5% MIDD/CPEO overlap syndromes. 6% had PEO and other features of mitochondrial disease not consistent with another recognised syndrome. Isolated sensorineural hearing loss occurred in 3%. 28% of patients demonstrated a panoply of clinical features, which were not consistent with any of the classical syndromes associated with the m.3243A>G mutation. 9% of individuals harbouring the mutation were clinically asymptomatic. Following this study we propose guidelines for screening and for the management of confirmed cases.

Benefits of Teaching Medical Students How to Communicate with Patients Having Serious Illness

PubMed Central

Ellman, Matthew S.; Fortin, Auguste H.

2012-01-01

Innovative approaches are needed to teach medical students effective and compassionate communication with seriously ill patients. We describe two such educational experiences in the Yale Medical School curriculum for third-year medical students: 1) Communicating Difficult News Workshop and 2) Ward-Based End-of-Life Care Assignment. These two programs address educational needs to teach important clinical communication and assessment skills to medical students that previously were not consistently or explicitly addressed in the curriculum. The two learning programs share a number of educational approaches driven by the learning objectives, the students’ development, and clinical realities. Common educational features include: experiential learning, the Biopsychosocial Model, patient-centered communication, integration into clinical clerkships, structured skill-based learning, self-reflection, and self-care. These shared features ― as well as some differences ― are explored in this paper in order to illustrate key issues in designing and implementing medical student education in these areas. PMID:22737055

Ebola Virus Disease, Democratic Republic of the Congo, 2014.

PubMed

Nanclares, Carolina; Kapetshi, Jimmy; Lionetto, Fanshen; de la Rosa, Olimpia; Tamfun, Jean-Jacques Muyembe; Alia, Miriam; Kobinger, Gary; Bernasconi, Andrea

2016-09-01

During July-November 2014, the Democratic Republic of the Congo underwent its seventh Ebola virus disease (EVD) outbreak. The etiologic agent was Zaire Ebola virus; 66 cases were reported (overall case-fatality rate 74.2%). Through a retrospective observational study of confirmed EVD in 25 patients admitted to either of 2 Ebola treatment centers, we described clinical features and investigated correlates associated with death. Clinical features were mainly generic. At admission, 76% of patients had >1 gastrointestinal symptom and 28% >1 hemorrhagic symptom. The case-fatality rate in this group was 48% and was higher for female patients (67%). Cox regression analysis correlated death with initial low cycle threshold, indicating high viral load. Cycle threshold was a robust predictor of death, as were fever, hiccups, diarrhea, dyspnea, dehydration, disorientation, hematemesis, bloody feces during hospitalization, and anorexia in recent medical history. Differences from other outbreaks could suggest guidance for optimizing clinical management and disease control.

Current research on pycnodysostosis.

PubMed

Turan, Serap

2014-08-01

Pycnodysostosis is a rare autosomal recessive disorder caused by an inactivating mutation in cathepsin K (CTSK) and characterized by dysmorphic facial features, a short stature, acroosteolysis, osteosclerosis with increased bone fragility, and delayed closure of cranial sutures. Patients usually present with short stature or dysmorphic features the Pediatric Endocrinology or Genetics clinics, with atypical fractures to the orthopedics clinics or hematological abnormalities to the hematology clinics. However, under-diagnosis or misdiagnosis of this condition is a major issue. Pycnodysostosis is not a life threatening condition, but craniosynostosis, frequent fractures, respiratory-sleep problems, and dental problems may cause significant morbidity. Although no specific treatment for this disorder has been described, patients should be followed for complications and treated accordingly. A specific treatment for the disorder must be established in the future to prevent complications and improve quality of life for patients in the current era of advanced molecular research.

[Clinical observation of teacher tablets in treatment of pharyngitis].

PubMed

Qin, Dong-yun; Wu, Tie

2008-07-01

To evaluate the efficacy of teacher tablets in the treatment of pharyngitis. One hundred and thirty six patients with acute pharyngitis or chronic pharyngitis in attack were randamly divided into two groups: treated group (n=68), the patients were given teacher tablets for 7 days, control group (n=68), the patients were given Qinlian capsule for 7 days. Before and after the experimental medicine-taking test, general condition, clinical symptoms and features of examinations on laryngo-pharynx, throat swab bacterial culture were measured. After 7 day medicine-taking experiment, teacher tablets can improve clinical symptoms (at an efficacy rate of more than 60%) and features (at an efficacy rate of more than 80%) of laryngopharynx, in treated group, the inhibition ratios of alpha streptococcus, neisseria and staphylococcus aureus are more than 50%. There are no significant difference between treated group and control groups in those detected index. Teacher tablets is effective for pharyagitis.

Ocular Toxocariasis: Clinical Features and Long-term Visual Outcomes in Adult Patients.

PubMed

Despreaux, Raphaelle; Fardeau, Christine; Touhami, Sara; Brasnu, Emmanuelle; Champion, Emmanuelle; Paris, Luc; Touitou, Valérie; Bodaghi, Bahram; Lehoang, Phuc

2016-06-01

To investigate clinical characteristics and treatment outcomes of proven ocular toxocariasis (OT) in adult patients. Retrospective, consecutive, interventional case series. setting: Institutional. Consecutive OT patients with positive serum serology and positive western blot (WB) on ocular sample. Clinical features, optical coherence tomography (OCT), and treatment outcomes. Best-corrected visual acuity (BCVA) and OCT central foveal thickness (CFT). Fourteen patients were included between 2011 and 2013. Mean age at diagnosis was 45.6 years. Mean duration between the first symptoms and diagnosis was 15.1 months. Uveitis was unilateral in all cases and all patients displayed vitreous inflammation. The main baseline findings were presence of ≥1 peripheral granulomas (57.1%), vasculitis (57.1%), vitreoretinal traction (57.1%), and chronic macular edema (ME) (71.4%). Delayed diagnosis (>8 months) seemed to be associated with higher rate of ME. All patients received albendazole. Systemic (n = 5) and/or local corticosteroids (CS) (n = 7) were administered in case of ME and/or posterior segment inflammation. Vitrectomy was performed when vitreous inflammation was severe and persistent despite CS or in case of threatening traction or visually significant epimacular membrane (28.6%). Overall, this regimen allowed significant decrease of CFT (P = .01). In the vitrectomy subgroup, mean BCVA increased (P = .01) and CFT decreased (P = .017). While some features such as granuloma are typical signs of OT, atypical features can delay the diagnosis. In doubtful situations, WB on ocular samples seems to be more specific than serum antibodies alone. ME seems to be a common complication of longstanding OT in the adult. Copyright © 2016 Elsevier Inc. All rights reserved.

Heterozygous ABCC8 mutations are a cause of MODY.

PubMed

Bowman, P; Flanagan, S E; Edghill, E L; Damhuis, A; Shepherd, M H; Paisey, R; Hattersley, A T; Ellard, S

2012-01-01

The ABCC8 gene encodes the sulfonylurea receptor 1 (SUR1) subunit of the pancreatic beta cell ATP-sensitive potassium (K(ATP)) channel. Inactivating mutations cause congenital hyperinsulinism (CHI) and activating mutations cause transient neonatal diabetes (TNDM) or permanent neonatal diabetes (PNDM) that can usually be treated with sulfonylureas. Sulfonylurea sensitivity is also a feature of HNF1A and HNF4A MODY, but patients referred for genetic testing with clinical features of these types of diabetes do not always have mutations in the HNF1A/4A genes. Our aim was to establish whether mutations in the ABCC8 gene cause MODY that is responsive to sulfonylurea therapy. We sequenced the ABCC8 gene in 85 patients with a BMI <30 kg/m², no family history of neonatal diabetes and who were deemed sensitive to sulfonylureas by the referring clinician or were sulfonylurea-treated. All had tested negative for mutations in the HNF1A and HNF4A genes. ABCC8 mutations were found in seven of the 85 (8%) probands. Four patients were heterozygous for previously reported mutations and four novel mutations, E100K, G214R, Q485R and N1245D, were identified. Only four probands fulfilled MODY criteria, with two diagnosed after 25 years and one patient, who had no family history of diabetes, as a result of a proven de novo mutation. ABCC8 mutations can cause MODY in patients whose clinical features are similar to those with HNF1A/4A MODY. Therefore, sequencing of ABCC8 in addition to the known MODY genes should be considered if such features are present, to facilitate optimal clinical management of these patients.

Cutaneous metastasis: clinicopathological study of 72 patients from a tertiary care center in Lebanon.

PubMed

El Khoury, Jinane; Khalifeh, Ibrahim; Kibbi, Abdul-Ghani; Abbas, Ossama

2014-02-01

Cutaneous metastasis is the result of malignant cell spread from primary malignancy to the skin. This is not uncommon, and rates reported in the literature are as high as 10.4%. To the best of our knowledge, there are no studies assessing the epidemiologic, clinical, and histopathological features of cutaneous metastasis in our region. To assess the clinical and histopathological findings of all patients diagnosed with cutaneous metastasis at the American University of Beirut - Medical Center (AUB-MC) and to compare our findings with those published in the literature. Retrospective clinical and histopathologic evaluation of all cases diagnosed as cutaneous metastasis at AUB-MC between 1992 and 2010. A total of 72 patients (50 females and 22 males) were identified. The mean age at diagnosis was 55.2 years. The most common primary cancer was breast cancer in women and laryngeal cancer in men. The most common clinical presentation was a single nodule in 27% of cases followed by multiple nodules in 23%. Cutaneous metastasis lesions were asymptomatic in the majority. The chest was the most commonly affected site. On microscopy, the majority of metastatic cases were adenocarcinomas (74%). This is, to our knowledge, the first study characterizing the epidemiological, clinical, and histopathological features of cutaneous metastasis in the Lebanese population. The clinical and histopathological features observed were in concordance with the published literature, with minor differences. © 2013 The International Society of Dermatology.

Using machine learning to predict radiation pneumonitis in patients with stage I non-small cell lung cancer treated with stereotactic body radiation therapy

NASA Astrophysics Data System (ADS)

Valdes, Gilmer; Solberg, Timothy D.; Heskel, Marina; Ungar, Lyle; Simone, Charles B., II

2016-08-01

To develop a patient-specific ‘big data’ clinical decision tool to predict pneumonitis in stage I non-small cell lung cancer (NSCLC) patients after stereotactic body radiation therapy (SBRT). 61 features were recorded for 201 consecutive patients with stage I NSCLC treated with SBRT, in whom 8 (4.0%) developed radiation pneumonitis. Pneumonitis thresholds were found for each feature individually using decision stumps. The performance of three different algorithms (Decision Trees, Random Forests, RUSBoost) was evaluated. Learning curves were developed and the training error analyzed and compared to the testing error in order to evaluate the factors needed to obtain a cross-validated error smaller than 0.1. These included the addition of new features, increasing the complexity of the algorithm and enlarging the sample size and number of events. In the univariate analysis, the most important feature selected was the diffusion capacity of the lung for carbon monoxide (DLCO adj%). On multivariate analysis, the three most important features selected were the dose to 15 cc of the heart, dose to 4 cc of the trachea or bronchus, and race. Higher accuracy could be achieved if the RUSBoost algorithm was used with regularization. To predict radiation pneumonitis within an error smaller than 10%, we estimate that a sample size of 800 patients is required. Clinically relevant thresholds that put patients at risk of developing radiation pneumonitis were determined in a cohort of 201 stage I NSCLC patients treated with SBRT. The consistency of these thresholds can provide radiation oncologists with an estimate of their reliability and may inform treatment planning and patient counseling. The accuracy of the classification is limited by the number of patients in the study and not by the features gathered or the complexity of the algorithm.

SymptomCare@Home: Developing an Integrated Symptom Monitoring and Management System for Outpatients Receiving Chemotherapy.

PubMed

Beck, Susan L; Eaton, Linda H; Echeverria, Christina; Mooney, Kathi H

2017-10-01

SymptomCare@Home, an integrated symptom monitoring and management system, was designed as part of randomized clinical trials to help patients with cancer who receive chemotherapy in ambulatory clinics and often experience significant symptoms at home. An iterative design process was informed by chronic disease management theory and features of assessment and clinical decision support systems used in other diseases. Key stakeholders participated in the design process: nurse scientists, clinical experts, bioinformatics experts, and computer programmers. Especially important was input from end users, patients, and nurse practitioners participating in a series of studies testing the system. The system includes both a patient and clinician interface and fully integrates two electronic subsystems: a telephone computer-linked interactive voice response system and a Web-based Decision Support-Symptom Management System. Key features include (1) daily symptom monitoring, (2) self-management coaching, (3) alerting, and (4) nurse practitioner follow-up. The nurse practitioner is distinctively positioned to provide assessment, education, support, and pharmacologic and nonpharmacologic interventions to intensify management of poorly controlled symptoms at home. SymptomCare@Home is a model for providing telehealth. The system facilitates using evidence-based guidelines as part of a comprehensive symptom management approach. The design process and system features can be applied to other diseases and conditions.

Recurrence rates of bipolar disorder during the postpartum period: a study on 276 medication-free Italian women.

PubMed

Maina, Giuseppe; Rosso, Gianluca; Aguglia, Andrea; Bogetto, Filippo

2014-10-01

The postpartum period is considered a time of heightened vulnerability to bipolar disorder. The primary goal of this study was to examine the frequency and the polarity of postpartum episodes in a clinical sample of women with bipolar disorder who were medication-free during their pregnancies. In addition, we sought to examine whether there are differences in terms of clinical features of bipolar disorder between women with and without postpartum episodes. Lastly, we analyzed the potential relationship between polarity of the postpartum episodes and clinical features of bipolar disorder. The presence/absence of postpartum episodes and their characteristics were obtained from medical records of 276 women with bipolar disorder who were medication-free during their pregnancies. Two hundred seven women (75.0 %) had a history of one or more postpartum mood episodes: depressive (79.7 %), (hypo)manic (16.4 %), or mixed episodes (3.9 %). Psychotic symptoms during postpartum episodes were associated with depression in 37 (22.4 %) patients, with mania in 19 (67.8 %) patients, and with mixed episodes in 7 (87.5 %) patients. Postpartum manic and mixed episodes were significantly associated with type I disorder and with psychotic features. Our findings indicate high risk of clinically ascertained mood episodes during postpartum period in bipolar women who are not treated during pregnancy.

The lateralising significance of hypergraphia in temporal lobe epilepsy

PubMed Central

Roberts, JKA; Robertson, MM; Trimble, MR

1982-01-01

Six patients with hypergraphia and epilepsy are presented and their clinical features compared with other patients reported in the literature. It is suggested that hypergraphia occurs more frequently in patients with right-sided non-dominant temporal lobe lesions, in contrast for example to the schizophreniform presentation of left-sided lesions. Other features of psychopathology possibly associated with non-dominant lesions, including elation, hypereligiosity and déjà vu experiences, are also discussed. PMID:7069424

Extending information retrieval methods to personalized genomic-based studies of disease.

PubMed

Ye, Shuyun; Dawson, John A; Kendziorski, Christina

2014-01-01

Genomic-based studies of disease now involve diverse types of data collected on large groups of patients. A major challenge facing statistical scientists is how best to combine the data, extract important features, and comprehensively characterize the ways in which they affect an individual's disease course and likelihood of response to treatment. We have developed a survival-supervised latent Dirichlet allocation (survLDA) modeling framework to address these challenges. Latent Dirichlet allocation (LDA) models have proven extremely effective at identifying themes common across large collections of text, but applications to genomics have been limited. Our framework extends LDA to the genome by considering each patient as a "document" with "text" detailing his/her clinical events and genomic state. We then further extend the framework to allow for supervision by a time-to-event response. The model enables the efficient identification of collections of clinical and genomic features that co-occur within patient subgroups, and then characterizes each patient by those features. An application of survLDA to The Cancer Genome Atlas ovarian project identifies informative patient subgroups showing differential response to treatment, and validation in an independent cohort demonstrates the potential for patient-specific inference.

Systemic therapy for metastatic renal cell carcinoma in treatment naïve patients: a risk-based approach.

PubMed

Bukowski, Ronald M

2010-10-01

Kidney cancer is the ninth most common cancer in the USA, with an annual incidence of approximately 55,000 cases per year. Over 13,000 patients are estimated to die from this disease annually. Cloning of the VHL gene, recognition of the associated abnormalities in sporadic clear-cell carcinoma, and its role as a regulator of the hypoxic response, were important milestones in our understanding of renal-cell carcinoma (RCC) biology and the recognition of the vascular endothelial growth factor (VEGF) dependency of RCC. A variety of clinical features, including histologic features, prognostic factors, and patient history of comorbid illness, provide the framework in which the results of recent clinical trials and regulatory approvals of these agents are utilized to develop treatment recommendations for the largest metastatic patient RCC group, the therapy naïve individual. The rationale for use of VEGF-targeted therapy in advanced RCC patients and the recently developed treatment options for these individuals are reviewed. Regulatory approval of sorafenib for the treatment of metastatic RCC (mRCC), was followed by the approval of sunitinib, temsirolimus, bevacizumab plus interferon (IFNα), everolimus, and--most recently--pazopanib. These licences were granted from late 2005 through late 2009, a very short span of 4 years. In treatment-naïve mRCC patients, sunitinib, sorafenib, pazopanib, bevacizumab + IFNα, and temsirolimus were approved by the Food and Drug Administration (FDA) and/or the European Medicines Agency (EMEA). The clinical trials and data supporting these approvals are reviewed. This review examines these developments and provides the reader an overview and understanding of available current systemic therapy options for treatment-naïve mRCC patients. As multiple treatment options are now available for treatment-naïve mRCC patients, an understanding of how to utilize this group of agents is required. The use of various clinical features allows a rational approach to therapy selection. These features include prior treatment status, histologic subtype, and prognostic group. Further refinement of therapy selection is required and will require further biologic information as well as comparative randomized trials.

Ultrasonographic evaluation of acute pelvic pain in pregnant and postpartum period.

PubMed

Park, Sung Bin; Han, Byoung Hee; Lee, Young Ho

2017-04-22

Acute pelvic pain in pregnant and postpartum patients presents diagnostic and therapeutic challenges. The interpretation of imaging findings in these patients is influenced by the knowledge of the physiological changes that occur during the pregnant and postpartum period, as well as by the clinical history. Ultrasonography remains the primary imaging investigation of the pregnant and postpartum women. This article describes the causes and imaging features of acute pelvic pain in pregnant and postpartum period and suggests characteristics to such diseases, focusing on the ultrasonography features that allow one to arrive at the corrective diagnosis. Knowledge of the clinical settings and imaging features of acute pelvic pain in pregnant and postpartum period can lead to accurate diagnosis and appropriate management of the condition.

Fever as an initial manifestation of spondyloarthritis: A retrospective study.

PubMed

Byun, Se Jin; Bae, William Han; Jung, Seung Min; Lee, Sang-Won; Park, Yong-Beom; Song, Jason Jungsik

2017-01-01

We aimed to evaluate a wide spectrum of clinical features of adult patients with spondyloarthritis (SpA) whose initial manifestation was fever, using the Assessment of SpondyloArthritis international Society (ASAS) classification criteria. We retrospectively collected the electronic medical records of hospitalized SpA patients who initially presented to the Severance Hospital (Seoul, Korea) with fever from January 2010 to May 2016. As a control group, we also recruited one-hundred consecutive patients who were diagnosed with SpA in our outpatient clinic. Clinical features and laboratory findings were compared in two patient groups. There were 26 patients who had fever as initial presentation of SpA (reactive arthritis 50%, undifferentiated SpA 26.9%, ankylosing spondylitis 15.4%, enteropathic arthritis 3.8%, psoriatic arthritis 3.8%). Peripheral SpA was more common in febrile SpA patients than in control SpA patients (65.4% vs 24.0%, p<0.001). Febrile SpA patients were less frequently HLA-B27 positive than control SpA patients (52.2% vs 77.0%, p<0.05). At baseline, systemic inflammatory markers were significantly higher in the febrile SpA patients (white blood cell count, 11.57 vs 7.81 cells/μL, p<0.001; erythrocyte sedimentation rate, 69.2 vs 41.0 mm/h, p<0.001; C-reactive protein, 109.6 vs 15.3 mg/L, p<0.001). The proportion of patients treated with systemic steroids was significantly higher in febrile SpA patients (57.7% vs. 11.0%, p<0.001). The proportion of patients who visited rheumatology specialty was significantly lower in febrile SpA patients than in control SpA patients (7.7% vs 59.0%, p<0.001). Various subgroups of SpA can be presented with fever as an initial manifestation. Febrile SpA patients demonstrated higher systemic inflammation and a lower chance to visit rheumatology in early stage. When evaluating febrile patients with any clinical features of SpA, clinicians are advised to consider performing SpA-focused evaluation including HLA-B27 or a simple sacroiliac joint radiograph.

Perineural Infiltration of Cutaneous Squamous Cell Carcinoma and Basal Cell Carcinoma Without Clinical Features

DOE Office of Scientific and Technical Information (OSTI.GOV)

Lin, Charles, E-mail: Charles_Lin@health.qld.gov.au; Tripcony, Lee; Keller, Jacqui

2012-01-01

Purpose: To review the factors that influence outcome and patterns of relapse in patients with cutaneous squamous cell carcinoma (SCC) and basal cell carcinoma (BCC) with perineural infiltration (PNI) without clinical or radiologic features, treated with surgery and radiotherapy. Methods and Materials: Between 1991 and 2004, 222 patients with SCC or BCC with PNI on pathologic examination but without clinical or radiologic PNI features were identified. Charts were reviewed retrospectively and relevant data collected. All patients were treated with curative intent; all had radiotherapy, and most had surgery. The primary endpoint was 5-year relapse-free survival from the time of diagnosis.more » Results: Patients with SCC did significantly worse than those with BCC (5-year relapse-free survival, 78% vs. 91%; p < 0.01). Squamous cell carcinoma with PNI at recurrence did significantly worse than de novo in terms of 5-year local failure (40% vs. 19%; p < 0.01) and regional relapse (29% vs. 5%; p < 0.01). Depth of invasion was also a significant factor. Of the PNI-specific factors for SCC, focal PNI did significantly better than more-extensive PNI, but involved nerve diameter or presence of PNI at the periphery of the tumor were not significant factors. Conclusions: Radiotherapy in conjunction with surgery offers an acceptable outcome for cutaneous SCC and BCC with PNI. This study suggests that focal PNI is not an adverse feature.« less

Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency.

PubMed

Ouederni, Monia; Sanal, Ozden; Ikinciogullari, Aydan; Tezcan, Ilhan; Dogu, Figen; Sologuren, Ithaisa; Pedraza-Sánchez, Sigifredo; Keser, Melike; Tanir, Gonul; Nieuwhof, Chris; Colino, Elena; Kumararatne, Dinakantha; Levy, Jacov; Kutukculer, Necil; Aytekin, Caner; Herrera-Ramos, Estefanía; Bhatti, Micah; Karaca, Neslihan; Barbouche, Ridha; Broides, Arnon; Goudouris, Ekaterini; Franco, José Luis; Parvaneh, Nima; Reisli, Ismail; Strickler, Alexis; Shcherbina, Anna; Somer, Ayper; Segal, Anthony; Angel-Moreno, Alfonso; Lezana-Fernandez, José Luis; Bejaoui, Mohamed; Bobadilla-Del Valle, Miriam; Kachboura, Salem; Sentongo, Timothy; Ben-Mustapha, Imen; Bustamante, Jacinta; Picard, Capucine; Puel, Anne; Boisson-Dupuis, Stéphanie; Abel, Laurent; Casanova, Jean-Laurent; Rodríguez-Gallego, Carlos

2014-01-01

Interleukin 12Rβ1 (IL-12Rβ1)-deficient patients are prone to clinical disease caused by mycobacteria, Salmonella, and other intramacrophagic pathogens, probably because of impaired interleukin 12-dependent interferon γ production. About 25% of patients also display mucocutaneous candidiasis, probably owing to impaired interleukin 23-dependent interleukin 17 immunity. The clinical features and outcome of candidiasis in these patients have not been described before, to our knowledge. We report here the clinical signs of candidiasis in 35 patients with IL-12Rβ1 deficiency. Most (n = 71) of the 76 episodes of candidiasis were mucocutaneous. Isolated oropharyngeal candidiasis (OPC) was the most common presentation (59 episodes, 34 patients) and was recurrent or persistent in 26 patients. Esophageal candidiasis (n = 7) was associated with proven OPC in 2 episodes, and cutaneous candidiasis (n = 2) with OPC in 1 patient, whereas isolated vulvovaginal candidiasis (VVC; n = 3) was not. Five episodes of proven invasive candidiasis were documented in 4 patients; 1 of these episodes was community acquired in the absence of any other comorbid condition. The first episode of candidiasis occurred earlier in life (median age±standard deviation, 1.5 ± 7.87 years) than infections with environmental mycobacteria (4.29 ± 11.9 years), Mycobacterium tuberculosis (4 ± 3.12 years), or Salmonella species (4.58 ± 4.17 years) or other rare infections (3 ± 11.67 years). Candidiasis was the first documented infection in 19 of the 35 patients, despite the vaccination of 10 of these 19 patients with live bacille Calmette-Guérin. Patients who are deficient in IL-12Rβ1 may have candidiasis, usually mucocutaneous, which is frequently recurrent or persistent. Candidiasis may be the first clinical manifestation in these patients.

Bronchopulmonary Actinomycosis Associated With Hiatal Hernia

PubMed Central

Andreani, Alessandro; Cavazza, Alberto; Marchioni, Alessandro; Richeldi, Luca; Paci, Massimiliano; Rossi, Giulio

2009-01-01

OBJECTIVES: To describe clinicoradiologic and histopathologic features of bronchopulmonary actinomycosis and to determine whether hiatal hernia (HH) is a potential predisposing factor for bronchopulmonary actinomycosis. PATIENTS AND METHODS: We reviewed the medical charts of 10 patients who had bronchopulmonary actinomycosis between November 1, 2002, and January 31, 2008. Complete clinical data, radiologic studies (chest radiographs and computed tomographic scans), and histopathologic features were assessed to investigate clinical manifestations and predisposing factors related to bronchopulmonary actinomycosis. RESULTS: The series consisted of 6 men and 4 women, with a mean age of 63.5 years; 8 of the patients were smokers. Cough and fever were the most common symptoms. Chest imaging showed mass-like consolidation in 4 patients, bronchial thickening or lung atelectasis with pleural thickening in 2 patients each, and perihilar irregular mass or multiple bilateral nodules in 1 patient each. Primary or metastatic lung cancer was suspected clinically in 8 of the 10 patients. Foreign body-related endobronchial actinomycosis was diagnosed in 6 patients, 5 of whom had HH; only 1 had gastroesophageal reflux-related symptoms. Because of bronchial obstruction, rigid bronchoscopy was performed in 3 patients, lobectomy in 2, and atypical resection in 1. Antibiotic therapy with amoxicillin was given to all patients, with resolution of actinomycosis. CONCLUSION: Bronchopulmonary actinomycosis is a rare condition that mimics pulmonary malignancy on clinical and radiologic grounds. Diagnosis relies on an accurate patient history and histopathologic examination. Although further confirmation is required, esophageal HH appears to be a potential predisposing factor. PMID:19181645

Gender differences in demographic and clinical features and prescribing patterns of psychotropic medications in patients with major depressive disorder in China.

PubMed

Xiang, Yu-Tao; Wang, Gang; Guo, Tong; Hu, Chen; Ungvari, Gabor S; Kilbourne, Amy M; Lai, Kelly Y C; Wong, Samuel Y S; Si, Tian-Mei; Zheng, Qi-Wen; Chen, Da-Fang; Fang, Yi-Ru; Lu, Zheng; Yang, Hai-Chen; Hu, Jian; Chen, Zhi-Yu; Huang, Yi; Sun, Jing; Wang, Xiao-Ping; Li, Hui-Chun; Zhang, Jin-Bei; Chiu, Helen F K

2013-11-01

Little is known about gender differences associated with major depressive disorder (MDD) in China. This study examined gender differences associated with other demographic and clinical characteristics and psychotropic drug treatment in Chinese patients with MDD. A total of 1178 patients with MDD from 13 psychiatric hospitals or psychiatric units of general hospitals in China nationwide were enrolled. Cross-sectional data including patients' demographic and clinical characteristics and prescriptions of psychotropic medications were recorded using a standardized protocol and data collection procedure. The sample consisted of 793 female and 385 male patients. Univariate analyses revealed that male patients were younger than female patients, had a younger age of onset of depression, had less lifetime depressive episodes and had more bipolar features (i.e. patients who screened positive for hypomanic symptoms on the 32-item Hypomania Checklist, but did not meet the diagnostic criteria for DSM-IV bipolar disorders as measured by the Mini International Neuropsychiatric Interview). Also, men were more likely to be employed than women and less likely to have depressive episodes following stressful life events. In multivariate analyses, being employed, having bipolar features and not having depressive episodes following stressful life events were independently associated with being a male patient with major depressive disorder. There was no difference in use of psychotropic medications by gender. Most gender differences in MDD patients in this study are not consistent with findings of Western studies suggesting that gender differences in MDD may be determined by both biological and sociocultural differences among ethnically different patient populations. Copyright © 2013 Elsevier Inc. All rights reserved.

Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy.

PubMed

van Waning, Jaap I; Caliskan, Kadir; Hoedemaekers, Yvonne M; van Spaendonck-Zwarts, Karin Y; Baas, Annette F; Boekholdt, S Matthijs; van Melle, Joost P; Teske, Arco J; Asselbergs, Folkert W; Backx, Ad P C M; du Marchie Sarvaas, Gideon J; Dalinghaus, Michiel; Breur, Johannes M P J; Linschoten, Marijke P M; Verlooij, Laura A; Kardys, Isabella; Dooijes, Dennis; Lekanne Deprez, Ronald H; IJpma, Arne S; van den Berg, Maarten P; Hofstra, Robert M W; van Slegtenhorst, Marjon A; Jongbloed, Jan D H; Majoor-Krakauer, Danielle

2018-02-20

The clinical outcomes of noncompaction cardiomyopathy (NCCM) range from asymptomatic to heart failure, arrhythmias, and sudden cardiac death. Genetics play an important role in NCCM. This study investigated the correlations among genetics, clinical features, and outcomes in adults and children diagnosed with NCCM. A retrospective multicenter study from 4 cardiogenetic centers in the Netherlands classified 327 unrelated NCCM patients into 3 categories: 1) genetic, with a mutation in 32% (81 adults; 23 children) of patients; 2) probably genetic, familial cardiomyopathy without a mutation in 16% (45 adults; 8 children) of patients; or 3) sporadic, no family history, without mutation in 52% (149 adults; 21 children) of patients. Clinical features and major adverse cardiac events (MACE) during follow-up were compared across the children and adults. MYH7, MYBPC3, and TTN mutations were the most common mutations (71%) found in genetic NCCM. The risk of having reduced left ventricular (LV) systolic dysfunction was higher for genetic patients compared with the probably genetic and sporadic cases (p = 0.024), with the highest risk in patients with multiple mutations and TTN mutations. Mutations were more frequent in children (p = 0.04) and were associated with MACE (p = 0.025). Adults were more likely to have sporadic NCCM. High risk for cardiac events in children and adults was related to LV systolic dysfunction in mutation carriers, but not in sporadic cases. Patients with MYH7 mutations had low risk for MACE (p = 0.03). NCCM is a heterogeneous condition, and genetic stratification has a role in clinical care. Distinguishing genetic from nongenetic NCCM complements prediction of outcome and may lead to management and follow-up tailored to genetic status. Copyright © 2018 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

Congenital portosystemic shunts: imaging findings and clinical presentations in 11 patients.

PubMed

Konstas, Angelos A; Digumarthy, Subba R; Avery, Laura L; Wallace, Karen L; Lisovsky, Mikhail; Misdraji, Joseph; Hahn, Peter F

2011-11-01

To evaluate the clinical anatomy and presentations of congenital portosystemic shunts, and determine features that promote recognition on imaging. Institutional review board approval was obtained for this HIPAA-compliant study. The requirement for written informed consent was waived. Radiology reports were retrospectively reviewed from non-cirrhotic patients who underwent imaging studies from January 1999 through February 2009. Clinical sources reviewed included electronic medical records, archived images and histopathological material. Eleven patients with congenital portosystemic shunts were identified (six male and five female; age range 20 days to 84 years). Seven patients had extrahepatic and four patients had intrahepatic shunts. All 11 patients had absent or hypoplastic intrahepatic portal veins, a feature detected by CT and MRI, but not by US. Seven patients presented with shunt complications and four with presentations unrelated to shunt pathophysiology. Three adult patients had four splenic artery aneurysms. Prospective radiological evaluation of five adult patients with cross-sectional imaging had failed prospectively to recognize the presence of congenital portosystemic shunts on one or more imaging examinations. Congenital portosystemic shunts are associated with splenic artery aneurysms, a previously unrecognized association. Portosystemic shunts were undetected during prospective radiologic evaluation in the majority of adult patients, highlighting the need to alert radiologists to this congenital anomaly. Copyright © 2010. Published by Elsevier Ireland Ltd.

Multimodal predictor of neurodevelopmental outcome in newborns with hypoxic-ischaemic encephalopathy.

PubMed

Temko, Andriy; Doyle, Orla; Murray, Deirdre; Lightbody, Gordon; Boylan, Geraldine; Marnane, William

2015-08-01

Automated multimodal prediction of outcome in newborns with hypoxic-ischaemic encephalopathy is investigated in this work. Routine clinical measures and 1h EEG and ECG recordings 24h after birth were obtained from 38 newborns with different grades of HIE. Each newborn was reassessed at 24 months to establish their neurodevelopmental outcome. A set of multimodal features is extracted from the clinical, heart rate and EEG measures and is fed into a support vector machine classifier. The performance is reported with the statistically most unbiased leave-one-patient-out performance assessment routine. A subset of informative features, whose rankings are consistent across all patients, is identified. The best performance is obtained using a subset of 9 EEG, 2h and 1 clinical feature, leading to an area under the ROC curve of 87% and accuracy of 84% which compares favourably to the EEG-based clinical outcome prediction, previously reported on the same data. The work presents a promising step towards the use of multimodal data in building an objective decision support tool for clinical prediction of neurodevelopmental outcome in newborns with hypoxic-ischaemic encephalopathy. Copyright © 2015 Elsevier Ltd. All rights reserved.

Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet–Biedl syndrome

PubMed Central

Viswanathan, Vibhu Krishnan; Kanna, Rishi Mugesh; Shetty, Ajoy Prasad; Rajasekaran, S

2017-01-01

Bardet–Biedl syndrome (BBS) is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse neuromuscular manifestations in patients afflicted by this heterogeneous disorder include ataxia, cervical, and thoracic canal stenoses, presenting as spastic quadriparesis and other gait disturbances. We report a young patient with BBS, who had presented with acute flaccid paraparesis due to severe primary lumbar canal stenosis. She underwent immediate lumbar decompression and discectomy following which she recovered significantly. Acute cauda equina syndrome due to primary lumbar canal stenosis has not been reported as a clinical feature of BBS previously. PMID:28566787

Validation of Preoperative Risk Grouping of the Selection of Patients Most Likely to Benefit From Neoadjuvant Chemotherapy Before Radical Cystectomy.

PubMed

Moschini, Marco; Soria, Francesco; Klatte, Tobias; Wirth, Gregory J; Özsoy, Mehmet; Gust, Killian; Briganti, Alberto; Roupret, Morgan; Susani, Martin; Haitel, Andrea; Shariat, Shahrokh F

2017-04-01

The aim of this study was to validate the value of preoperative patient characteristics in prognosticating survival after radical cystectomy (RC) to guide treatment decisions regarding neoadjuvant systemic treatment. We evaluated a single cohort of 449 consecutive patients treated with RC for bladder cancer. Patients treated with neoadjuvant therapy were excluded from the study cohort (n = 24). Patients were stratified based on preoperative characteristics into 2 risk groups. The high-risk group included patients harboring clinically non-organ-confined disease (≥ cT3), hydroureteronephrosis, lymphovascular invasion, or variant histology (micropapillary, neuroendocrine, sarcomatoid, or plasmacytoid variants on transurethral resection). The low-risk group included patients with cT2 disease without any of the aforementioned features. Survival expectancies after surgery were evaluated using competing risk and Kaplan-Meier analyses. We identified 153 (44.6%) low-risk and 190 (55.4%) high-risk patients. The majority of high-risk patients had only 1 high-risk feature (n = 111; 58.4%); the most common high-risk feature was preoperative hydroureteronephrosis (n = 107; 56.3%). The majority of low-risk patients were upstaged at time of RC (n = 118; 70.6%), whereas a pathologic downstage occurred only in 27 high-risk patients (14.2%). Cancer-specific mortality-free rates at 5 years after RC were 77.4% versus 64.4% for low-risk versus high-risk patients, respectively. We confirm that preoperative risk features can stratify patients with muscle-invasive bladder cancer into differential risk groups regarding survival. Decision-making regarding neoadjuvant systemic therapy administration is likely to be improved by integrating clinical stage, lymphovascular invasion, variant histology, and hydroureteronephrosis. Copyright © 2016 Elsevier Inc. All rights reserved.

Toxocariasis masquerading as liver and lung metastatic nodules in patents with gastrointestinal cancer: clinicopathologic study of five cases.

PubMed

Park, Sanghui; Kim, Yun Soo; Kim, Yu Jin; Kyung, Sun Young; Park, Jeong-Woong; Jeong, Sung Hwan; Lee, Sang Pyo

2012-01-01

There are sporadic reports in the literature in which radiologic liver and lung lesions found incidentally during follow-up metastatic surveillance were shown to be caused by toxocariasis. The objective of the work discussed in this report was to identify common clinical and histopathological features of toxocariasis resembling metastatic nodules in five patients with gastrointestinal cancer. We retrospectively analyzed clinical features of five gastrointestinal cancer patients with liver or lung nodules mimicking metastasis. Serologic tests for parasitic infestations and pathologic examinations were performed. All five patients were males and three patients had gastric cancer and two had colorectal cancer. All the cases of toxocariasis were confirmed serologically. On follow-up imaging, the lesions improved or resolved, suggestive of the phenomenon of visceral larva migrans. In two patients, liver biopsy was performed and showed eosinophilic abscess. Serologic tests and liver or lung biopsy should be performed aggressively to exclude toxocariasis when patients with underlying gastrointestinal cancer present with hepatic or pulmonary nodules associated with eosinophilia, particularly if the patients have a clinical history of raw animal liver ingestion. Curative surgical intervention should not be excluded just because of multiple nodules in the liver or the lungs.

A combination of molecular markers and clinical features improve the classification of pancreatic cysts.

PubMed

Springer, Simeon; Wang, Yuxuan; Dal Molin, Marco; Masica, David L; Jiao, Yuchen; Kinde, Isaac; Blackford, Amanda; Raman, Siva P; Wolfgang, Christopher L; Tomita, Tyler; Niknafs, Noushin; Douville, Christopher; Ptak, Janine; Dobbyn, Lisa; Allen, Peter J; Klimstra, David S; Schattner, Mark A; Schmidt, C Max; Yip-Schneider, Michele; Cummings, Oscar W; Brand, Randall E; Zeh, Herbert J; Singhi, Aatur D; Scarpa, Aldo; Salvia, Roberto; Malleo, Giuseppe; Zamboni, Giuseppe; Falconi, Massimo; Jang, Jin-Young; Kim, Sun-Whe; Kwon, Wooil; Hong, Seung-Mo; Song, Ki-Byung; Kim, Song Cheol; Swan, Niall; Murphy, Jean; Geoghegan, Justin; Brugge, William; Fernandez-Del Castillo, Carlos; Mino-Kenudson, Mari; Schulick, Richard; Edil, Barish H; Adsay, Volkan; Paulino, Jorge; van Hooft, Jeanin; Yachida, Shinichi; Nara, Satoshi; Hiraoka, Nobuyoshi; Yamao, Kenji; Hijioka, Susuma; van der Merwe, Schalk; Goggins, Michael; Canto, Marcia Irene; Ahuja, Nita; Hirose, Kenzo; Makary, Martin; Weiss, Matthew J; Cameron, John; Pittman, Meredith; Eshleman, James R; Diaz, Luis A; Papadopoulos, Nickolas; Kinzler, Kenneth W; Karchin, Rachel; Hruban, Ralph H; Vogelstein, Bert; Lennon, Anne Marie

2015-11-01

The management of pancreatic cysts poses challenges to both patients and their physicians. We investigated whether a combination of molecular markers and clinical information could improve the classification of pancreatic cysts and management of patients. We performed a multi-center, retrospective study of 130 patients with resected pancreatic cystic neoplasms (12 serous cystadenomas, 10 solid pseudopapillary neoplasms, 12 mucinous cystic neoplasms, and 96 intraductal papillary mucinous neoplasms). Cyst fluid was analyzed to identify subtle mutations in genes known to be mutated in pancreatic cysts (BRAF, CDKN2A, CTNNB1, GNAS, KRAS, NRAS, PIK3CA, RNF43, SMAD4, TP53, and VHL); to identify loss of heterozygozity at CDKN2A, RNF43, SMAD4, TP53, and VHL tumor suppressor loci; and to identify aneuploidy. The analyses were performed using specialized technologies for implementing and interpreting massively parallel sequencing data acquisition. An algorithm was used to select markers that could classify cyst type and grade. The accuracy of the molecular markers was compared with that of clinical markers and a combination of molecular and clinical markers. We identified molecular markers and clinical features that classified cyst type with 90%-100% sensitivity and 92%-98% specificity. The molecular marker panel correctly identified 67 of the 74 patients who did not require surgery and could, therefore, reduce the number of unnecessary operations by 91%. We identified a panel of molecular markers and clinical features that show promise for the accurate classification of cystic neoplasms of the pancreas and identification of cysts that require surgery. Copyright © 2015 AGA Institute. Published by Elsevier Inc. All rights reserved.

Clinicopathological features of Xp11.2 translocation renal cell carcinoma.

PubMed

Lim, Bumjin; You, Dalsan; Jeong, In Gab; Kwon, Taekmin; Hong, Sungwoo; Song, Cheryn; Cho, Yong Mee; Hong, Bumsik; Hong, Jun Hyuk; Ahn, Hanjong; Kim, Choung Soo

2015-03-01

Xp11.2 translocation renal cell carcinoma (RCC) is characterized by various translocations of the TFE3 transcription factor gene. These rare cancers occur predominantly in children and young adults. Here, we review the clinicopathological features of Xp11.2 translocation RCC. We identified 21 patients with Xp11.2 translocation RCC. We retrospectively analyzed patient characteristics, clinical manifestations, and specific pathological features to assess definitive diagnosis, surgical and systemic treatments, and clinical outcomes. The mean age at diagnosis was 43.4±20.0 years (range, 8-80 years; 8 males and 13 females). Eleven patients were incidentally diagnosed, nine patients presented with local symptoms, and one patient presented with systemic symptoms. The mean tumor size was 6.2±3.8 cm (range, 1.9-14 cm). At the time of diagnosis, 11, 1, and 5 patients showed stage I, II, and III, respectively. Four patients showed distant metastasis. At analysis, 15 patients were disease-free after a median follow-up period of 30.0 months. Four patients received target therapy but not effectively. Xp11 translocation RCC tends to develop in young patients with lymph node metastasis. Targeted therapy did not effectively treat our patients. Surgery is the only effective therapy for Xp11 translocation RCC, and further studies are needed to assess systemic therapy and long-term prognosis.

Clinicopathological features of Xp11.2 translocation renal cell carcinoma

PubMed Central

Lim, Bumjin; You, Dalsan; Jeong, In Gab; Kwon, Taekmin; Hong, Sungwoo; Song, Cheryn; Cho, Yong Mee; Hong, Bumsik; Hong, Jun Hyuk; Ahn, Hanjong

2015-01-01

Purpose Xp11.2 translocation renal cell carcinoma (RCC) is characterized by various translocations of the TFE3 transcription factor gene. These rare cancers occur predominantly in children and young adults. Here, we review the clinicopathological features of Xp11.2 translocation RCC. Materials and Methods We identified 21 patients with Xp11.2 translocation RCC. We retrospectively analyzed patient characteristics, clinical manifestations, and specific pathological features to assess definitive diagnosis, surgical and systemic treatments, and clinical outcomes. Results The mean age at diagnosis was 43.4±20.0 years (range, 8-80 years; 8 males and 13 females). Eleven patients were incidentally diagnosed, nine patients presented with local symptoms, and one patient presented with systemic symptoms. The mean tumor size was 6.2±3.8 cm (range, 1.9-14 cm). At the time of diagnosis, 11, 1, and 5 patients showed stage I, II, and III, respectively. Four patients showed distant metastasis. At analysis, 15 patients were disease-free after a median follow-up period of 30.0 months. Four patients received target therapy but not effectively. Conclusions Xp11 translocation RCC tends to develop in young patients with lymph node metastasis. Targeted therapy did not effectively treat our patients. Surgery is the only effective therapy for Xp11 translocation RCC, and further studies are needed to assess systemic therapy and long-term prognosis. PMID:25763125

[Cerebral gliosarcoma: clinico-pathologic study of 8 cases].

PubMed

Ayadi, Lobna; Charfi, Slim; Khabir, Abdemajid; Kalle, Rim; Sellami, Ahmed; Makni, Saloua; Boudawara, Zaher; Sellami-Boudawara, Tahya

2010-03-01

Gliosarcomas are biphasic neoplasms composed of a glioblastoma admixed to a sarcomatous component with different lines of differentiation. Histogenesis of these tumors is still discussed. Our objective is to specify clinical and pathological characteristics of this rare neoplasm and to discuss its histogenesis. Retrospective study of eight cases of gliosarcomas diagnosed between January 1998 and December 2004. Clinical, radiological, therapeutic and follow-up data were reviewed. Histological features and immunohistochemical results were also included in this review. Five patients were male, three women with a median age of 50.7 (range 31-74 years). Symptoms were dominated by intracranial hypertension and paralysis. The most common location was parietal or temporo-parietal (5 cases: 62.5%). Pathological exam including histochemical and immunohistochemical study confirmed the diagnosis of gliosarcoma in all cases. Sarcomatous component had features of fibrosarcoma in 5 cases, osteosarcoma in 2 cases and malignant fibrous histiocytoma in 1 case. All patients were treated by surgical excision (complete in five cases and partial in three cases). Adjuvant radiotherapy was received in three cases. One patient was lost on follow-up. Two patients died from postoperative. complications and the five remaining patients died with a medium follow up of 9 months (extremes: 2-24 months). Clinical, radiological and follow-up features of gliosarcomas share great similarities with glioblastomas. Histopathological, histochemical and immunohistochemical studies are helpful in accuracy diagnosis. Recent cytogenetic and molecular data support a monoclonal origin for these tumors.

Correlation between the histological features of corneal surface pannus following ocular surface burns and the final outcome of cultivated limbal epithelial transplantation.

PubMed

Sati, Alok; Basu, Sayan; Sangwan, Virender S; Vemuganti, Geeta K

2015-04-01

To report the influence of histological features of corneal surface pannus following ocular surface burn on the outcome of cultivated limbal epithelial transplantation (CLET). On retrospectively reviewing the medical records of the patients who underwent autologous CLET from April 2002 to June 2012 at L V Prasad Eye Institute, Hyderabad, India, we could trace the histological reports in only 90 records. These 90 records, besides clinical parameters, were reviewed for the influence of various histological features on the final outcome of CLET. The histological features include epithelial hyperplasia (21.1%), surface ulceration (2.2%), goblet cells (62.2%), squamous metaplasia (11.1%), active fibrosis (31.1%), severe inflammation (8.9%), multinucleated giant cells (3.3%), stromal calcification (8.9%) and active proliferating vessels (5.6%). Among these histological features, patients with either hyperplasia or calcification in their excised corneal pannus show an unfavourable outcome compared with patients without hyperplasia (p=0.003) or calcification (p=0.018). A similar unfavourable outcome was not seen with other histological features and various clinical parameters. Presence of either calcific deposits or hyperplasia in the excised corneal pannus provides poor prognostication; hence, a proper counselling of such patients is mandatory along with a close follow-up. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

PubMed

Campeau, Philippe M; Hennekam, Raoul C

2014-09-01

DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures. Half of the patients with all clinical features have mutations in TBC1D24. We review here the manifestations of patients clinically diagnosed with DOORS syndrome. In this cohort of 32 families (36 patients) we detected 13 individuals from 10 families with TBC1D24 mutations. Subsequent whole exome sequencing in the cohort showed the same de novoSMARCB1 mutation (c.1130G>A), known to cause Coffin-Siris syndrome, in two patients. Distinguishing features include retinal anomalies, Dandy-Walker malformation, scoliosis, rocker bottom feet, respiratory difficulties and absence of seizures, and 2-oxoglutaric aciduria in the patients with the SMARCB1 mutation. We briefly discuss the heterogeneity of the DOORS syndrome phenotype and the differential diagnosis of this condition. © 2014 Wiley Periodicals, Inc.

Indicators of pretreatment suicidal ideation in adults with major depressive disorder.

PubMed

Morris, D W; Trivedi, M H; Husain, M M; Fava, M; Budhwar, N; Wisniewski, S R; Miyahara, S; Gollan, J K; Davis, L L; Daly, E J; Rush, A J

2010-06-01

In order to evaluate the presence of treatment emergent suicidal ideation (SI), it becomes necessary to identify those patients with SI at the onset of treatment. The purpose of this report is to identify sociodemographic and clinical features that are associated with SI in major depressive disorder (MDD) patients prior to treatment with a selective serotonin reuptake inhibitor. This multisite study enrolled 265 out-patients with non-psychotic MDD. Sociodemographic and clinical features of participants with and without SI were compared post hoc. Social phobia, bulimia nervosa, number of past depressive episodes, and race were independently associated with SI by one or more SI measure. Concurrent social phobia and bulimia nervosa may be potential risk factors for SI in patients with non-psychotic MDD. Additionally, patients with more than one past depressive episode may also be at increased risk of SI.

Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.

PubMed

Momma, Kazunari; Noguchi, Satoru; Malicdan, May Christine V; Hayashi, Yukiko K; Minami, Narihiro; Kamakura, Keiko; Nonaka, Ikuya; Nishino, Ichizo

2012-01-01

Rimmed vacuoles in myofibers are thought to be due to the accumulation of autophagic vacuoles, and can be characteristic in certain myopathies with protein inclusions in myofibers. In this study, we performed a detailed clinical, molecular, and pathological characterization of Becker muscular dystrophy patients who have rimmed vacuoles in muscles. Among 65 Becker muscular dystrophy patients, we identified 12 patients who have rimmed vacuoles and 11 patients who have deletions in exons 45-48 in DMD gene. All patients having rimmed vacuoles showed milder clinical features compared to those without rimmed vacuoles. Interestingly, the rimmed vacuoles in Becker muscular dystrophy muscles seem to represent autophagic vacuoles and are also associated with polyubiquitinated protein aggregates. These findings support the notion that rimmed vacuoles can appear in Becker muscular dystrophy, and may be related to the chronic changes in muscle pathology induced by certain mutations in the DMD gene.

Clinical and ultrasound features in patients with intersection syndrome or de Quervain's disease.

PubMed

Sato, J; Ishii, Y; Noguchi, H

2016-02-01

We investigated the demographic characteristics of patients who were diagnosed with intersection syndrome and also investigated the dominance of the affected hand, duration of symptoms and any precipitating factor for pain of the wrist. These features were compared with patients who had de Quervain's disease. Ultrasonography was used to confirm the clinical diagnosis. Intersection syndrome occurred more frequently in men and in the dominant hand than de Quervain's disease when all the patients were compared and when peripartum women were excluded. It occurred at a younger age than de Quervain's disease only when the comparison excluded peripartum women. Patients with intersection syndrome presented with a much shorter duration of symptoms. These results were consistent with previous reports about occupational factors in intersection syndrome, and might be helpful in the understanding of epidemiological difference between the two conditions. Level 3. © The Author(s) 2015.

Apply radiomics approach for early stage prognostic evaluation of ovarian cancer patients: a preliminary study

NASA Astrophysics Data System (ADS)

Danala, Gopichandh; Wang, Yunzhi; Thai, Theresa; Gunderson, Camille; Moxley, Katherine; Moore, Kathleen; Mannel, Robert; Liu, Hong; Zheng, Bin; Qiu, Yuchen

2017-03-01

Predicting metastatic tumor response to chemotherapy at early stage is critically important for improving efficacy of clinical trials of testing new chemotherapy drugs. However, using current response evaluation criteria in solid tumors (RECIST) guidelines only yields a limited accuracy to predict tumor response. In order to address this clinical challenge, we applied Radiomics approach to develop a new quantitative image analysis scheme, aiming to accurately assess the tumor response to new chemotherapy treatment, for the advanced ovarian cancer patients. During the experiment, a retrospective dataset containing 57 patients was assembled, each of which has two sets of CT images: pre-therapy and 4-6 week follow up CT images. A Radiomics based image analysis scheme was then applied on these images, which is composed of three steps. First, the tumors depicted on the CT images were segmented by a hybrid tumor segmentation scheme. Then, a total of 115 features were computed from the segmented tumors, which can be grouped as 1) volume based features; 2) density based features; and 3) wavelet features. Finally, an optimal feature cluster was selected based on the single feature performance and an equal-weighed fusion rule was applied to generate the final predicting score. The results demonstrated that the single feature achieved an area under the receiver operating characteristic curve (AUC) of 0.838+/-0.053. This investigation demonstrates that the Radiomic approach may have the potential in the development of high accuracy predicting model for early stage prognostic assessment of ovarian cancer patients.

Urothelial (transitional cell) papilloma of the urinary bladder: a clinicopathologic study of 26 cases.

PubMed

McKenney, Jesse K; Amin, Mahul B; Young, Robert H

2003-07-01

The existence of a papillary lesion of the urinary bladder with a benign clinical course and recognizable morphologic features that merit the benign categorization "papilloma" has been controversial. The clinical aspects and histologic features of these lesions remain to be fully elucidated. We have studied the clinicopathologic features of 26 patients with urothelial papillomas and correlated them with outcome. Papillomas occurred in two distinct clinical settings: (1) de novo neoplasms (23/26) or (2) those occurring in patients with a known clinical history of bladder cancer ("secondary" papillomas; 3/26). Follow-up information was available in 14/23 of the de novo cases (mean = 39 mo) and in 3/3 secondary cases (mean = 24 mo). Patients with de novo papillomas had a mean age of 46 years; 16 were male and 7 were female. Twelve of 14 had a benign clinical course with no recurrences; 1 developed a recurrent papilloma at 3 years, and 1 developed a pT3a high-grade papillary urothelial carcinoma at 4 years. Patients with secondary papillomas had a mean age of 66 years; two were male and one was a female. One of these patients developed two additional recurrences, and two patients had no new recurrences. Morphologically, the papillary architecture ranged from a common simple, nonhierarchical arrangement to, infrequently, more complex anastomosing papillae with budding. The individual papillae ranged from small (most common), with scant stroma and slender fibrovascular cores, to large, with marked stromal edema and/or cystitis cystica-like urothelial invaginations. Common to all was a lining of normal-appearing urothelium without hyperplasia, maintenance of normal polarity, and frequent prominence of the umbrella cell layer. Overall, no patient with a diagnosis of papilloma died of disease; only one patient with a de novo lesion (7.0%) had a recurrent papilloma, and 1/14 (7.0%) progressed to a higher grade and stage of disease, although this patient was on immunosuppressive therapy secondary to a renal transplant. De novo urothelial papillomas occur in younger patients and usually have a benign course. Urothelial papillomas are histologically and probably biologically distinctive tumors and merit distinction from other higher risk papillary neoplasms of the urinary bladder.

Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis--an entity different from adults.

PubMed

DeLario, Melissa R; Sheehan, Andrea M; Ataya, Ramona; Bertuch, Alison A; Vega, Carlos; Webb, C Renee; Lopez-Terrada, Dolores; Venkateswaran, Lakshmi

2012-05-01

Primary myelofibrosis is a chronic myeloproliferative neoplasm characterized by cytopenias, leukoerythroblastosis, extramedullary hematopoiesis, hepatosplenomegaly and bone marrow fibrosis. Primary myelofibrosis is a rare disorder in adults; children are even less commonly affected by this entity, with the largest pediatric case series reporting on three patients. Most literature suggests spontaneous resolution of myelofibrosis without long term complications in the majority of affected children. We describe the clinical, pathologic, and molecular characteristics and outcomes of nineteen children with primary myelofibrosis treated in our center from 1984 to 2011. Most patients had cytopenia significant enough to require supportive therapy. No child developed malignant transformation and only five of the 19 children (26%) had spontaneous resolution of disease. Sequence analyses for JAK2V617F and MPLW515L mutations were performed on bone marrow samples from 17 and six patients, respectively, and the results were negative. In conclusion, analysis of this large series of pediatric patients with primary myelofibrosis demonstrates distinct clinical, hematologic, bone marrow, and molecular features from adult patients. Copyright © 2012 Wiley Periodicals, Inc.

The relationship between increased levels of Anti-dsDNA with clinical manifestation in patients with SLE in Haji Adam Malik General Hospital Medan

NASA Astrophysics Data System (ADS)

Marpaung, B.; Patrick, J.

2018-03-01

Systemic Lupus Erythematosus (SLE) is an autoimmune rheumatic disease characterized by widespread inflammation and affects any organism the body. Many autoimmune diseases result in autoantibody production, but Anti-dsDNA antibodies are highly specific to SLE. Previous study found that Anti-dsDNA antibodies are associated with severe clinical manifestations of lupus. The aim of this study was to examine the relationship between anti-dsDNA level with clinical features and laboratory findings in SLE patients. This cross-sectional study was conducted in Hospital Haji Adam Malik Medan in May-October 2016.We examine anti-dsDNA, clinical features and kidney laboratory profile in all patient. Data were statistically analyzed.81 SLE patients with median level of anti-dsDNA 294 (6.1-1317). There was no significant relationship between increased level of Anti-dsDNA with clinical manifestations (p>0.05). There were significant relationships between increased level of Anti-dsDNA with renal impairment (p=0.049), urea level (p=0.016), urine protein (p=0.042) and hematology disorder (p=0.005). Arthritis is the most frequent clinical manifestation (96.3%) followed by malar rash (77.8%). Elevated anti-dsDNA level was not related with clinical manifestations but there was significant relationship with hematology disorder, urea, creatinine, and proteinuria in SLE patents.

Co-Occurrence of Language and Behavioural Change in Frontotemporal Lobar Degeneration.

PubMed

Harris, Jennifer M; Jones, Matthew; Gall, Claire; Richardson, Anna M T; Neary, David; du Plessis, Daniel; Pal, Piyali; Mann, David M A; Snowden, Julie S; Thompson, Jennifer C

2016-01-01

We aimed to evaluate the co-occurrence of language and behavioural impairment in patients with frontotemporal lobar degeneration (FTLD) spectrum pathology. Eighty-one dementia patients with pathological confirmation of FTLD were identified. Anonymized clinical records from patients' first assessment were rated for language and behavioural features from frontotemporal dementia consensus criteria, primary progressive aphasia (PPA) criteria and 1998 FTLD criteria. Over 90% of patients with FTLD pathology exhibited a combination of at least one behavioural and one language feature. Changes in language, in particular, were commonly accompanied by behavioural change. Notably, the majority of patients who displayed language features characteristic of semantic variant PPA exhibited 'early perseverative, stereotyped or compulsive/ritualistic behaviour'. Moreover, 'executive/generation deficits with relative sparing of memory and visuospatial functions' occurred in most patients with core features of non-fluent variant PPA. Behavioural and language symptoms frequently co-occur in patients with FTLD pathology. Current classifications, which separate behavioural and language syndromes, do not reflect this co-occurrence.

Clinical correlates of the presence of the Asp816Val c-kit mutation in the peripheral blood mononuclear cells of patients with mastocytosis.

PubMed

Worobec, A S; Semere, T; Nagata, H; Metcalfe, D D

1998-11-15

The Asp816Val mutation in the catalytic domain of the c-kit receptor has been identified in patients with systemic mastocytosis. To determine whether this mutation is associated with identifiable clinical patterns of disease and prognosis, a total of 65 patients with mastocytosis were screened for the presence of the Asp816Val mutation in peripheral blood mononuclear cells (PBMCs). By analysis of HinfI digestion products, the authors found that the overall prevalence of this mutation in the current patient series was 25%. The presence of the Asp816Val mutation in PBMCs was observed in 15 adults (of 16 Asp816Val mutation positive patients) and 1 infant, but not in any children with mastocytosis. Patients whose PBMCs were positive for this mutation (category II and a subset of category Ib mastocytosis patients) manifested a more severe disease pattern, with clinical features ranging in severity from early to advanced myelodysplastic or myeloproliferative syndromes. These patients more commonly had osteosclerotic bone involvement (a clinical feature primarily observed in mastocytosis patients with an associated hematologic disorder) as well as immunoglobulin dysregulation and peripheral blood abnormalities. Furthermore, pedigree analysis of three families provided evidence that the mutation was somatic. Twenty-five percent of all patients with mastocytosis had the Asp816Val mutation in PBMCs; 56% of these patients had evidence of a myelodysplastic or myeloproliferative syndrome, and 44% had been clinically placed in the indolent mastocytosis category, suggesting that the current classification scheme used to assign prognosis may be inadequate. Therefore, determination of the presence or absence of this mutation in PBMCs of mastocytosis patients offers a useful adjunct in determining the extent of workup and assigning prognosis in this complex and heterogeneous disease.

Ocular toxocariasis in Korea.

PubMed

Kwon, Soon Il; Lee, Jung Pil; Park, Sung Pyo; Lee, Eun Kyung; Huh, Sun; Park, In Won

2011-03-01

To analyze the characteristics and clinical manifestations of clinically diagnosed and serologically confirmed ocular toxocariasis in patients. Thirty-three eyes of 33 patients diagnosed as having ocular toxocariasis at the Hallym University Medical Center between January 1999 and December 2008 were included in the study. The diagnosis of ocular toxocariasis was based on clinical features and confirmed serologically by enzyme-linked immunosorbent assay and immunoblotting. All patients were interviewed by using a structured questionnaire that included risk factors that might account for the introduction of Toxocara larvae. Demographics, social characteristics determined from the questionnaire, and clinical features were evaluated. A total of 33 eyes of 33 patients were enrolled in this study: 24 (73%) patients were men, and mean patient age was 41.6 ± 11.0 years. Ten of 28 patients (36%) who responded to the questionnaire had a history of contact with pets, and 23 (82%) had a history of consuming raw food. The most common symptoms were blurred vision in 22 eyes (67%) and floaters in six eyes (18%). The toxocariasis was unilateral in all patients, and the inflammation was acute in two-thirds of the patients. In 17 eyes (52%), Toxocara granuloma was found in the peripheral retina. Nineteen eyes (58%) had visual acuity of 20/40 or better at presentation and improved significantly after treatment. Final visual acuity was 20/40 or better in 26 eyes (79%). Ocular toxocariasis in Korea usually affects young adults to middle-aged men. The clinical manifestation is unilateral and presents as acute inflammation with a peripheral inflammatory mass. Visual prognosis with appropriate treatment is good.

A College Epidemic of Mycoplasma Pneumoniae.

ERIC Educational Resources Information Center

Ralston, David; Cochran, Burt

1979-01-01

The article reports on an outbreak of mycoplasma pneumoniae at the California Polytechnic State University including a historical background of the disease, clinical features, laboratory findings for treated patients, treatment, and clinical clues for diagnosis. (JMF)

Case-controlled clinical and histopathological study of conjunctivochalasis.

PubMed

Francis, I C; Chan, D G; Kim, P; Wilcsek, G; Filipic, M; Yong, J; Coroneo, M T

2005-03-01

Conjunctivochalasis, a secondary cause of the watery eye, is frequently seen in the older age group as an elevation of the bulbar conjunctiva lying along the lateral or central lower lid margin. A prospective, interventional, case-controlled clinical and histopathological study was conducted. The relevant features of 18 patients (29 eyes) who had their conjunctivochalasis resected as part of the surgical management of their watery eye syndrome were examined. In the control group, tissue was obtained from an age matched series of 24 normal subjects undergoing routine cataract surgery. 24 controls (24 specimens) and 18 patients (29 specimens) had conjunctival strip biopsies, taken from the usual lid margin level bulbar conjunctiva in line with the inferior limbus (controls), and the clinically apparent conjunctivochalasis (patients). These were submitted for histological study. 23 of 24 control sections demonstrated normal conjunctival variation. Four of 29 patient specimens demonstrated a chronic non-granulomatous conjunctivitis, while three eyes of the patient group (two patients) demonstrated features of elastosis. Of the four patients who had the inflammatory infiltrates, three had functional nasolacrimal duct obstructions (FNLDOs) and one had a primary acquired nasolacrimal duct obstruction (PANDO). Of the two patients who had elastosis, one had an FNLDO and the other had normal lacrimal drainage and was Jones 1 positive. Six of 18 patients--that is, seven of 29 specimens of conjunctivochalasis demonstrated signs of elastosis or of chronic non-granulomatous inflammation. Clinically, patients had a spectrum of aetiologies of their watery eye syndrome.

Histopathologic Grading of Anaplasia in Retinoblastoma

PubMed Central

Mendoza, Pia R.; Specht, Charles S.; Hubbard, G. Baker; Wells, Jill R.; Lynn, Michael J.; Zhang, Qing; Kong, Jun; Grossniklaus, Hans E.

2014-01-01

Purpose To determine whether the degree of tumor anaplasia has prognostic value by evaluating its correlation with high-risk histopathologic features and clinical outcomes in a series of retinoblastoma patients. Design Retrospective clinicopathologic study. Methods The clinical and pathologic findings in 266 patients who underwent primary enucleation for retinoblastoma were reviewed. The histologic degree of anaplasia was graded as retinocytoma, mild, moderate, or severe as defined by increasing cellular pleomorphism, number of mitoses, nuclear size, and nuclear hyperchromatism. Nuclear morphometric characteristics were measured. The clinical and pathologic data of 125 patients were compared using Kaplan-Meier estimates of survival. Fisher's exact test and multivariate regression were used to analyze the association between anaplasia grade and high-risk histologic features. Results Increasing grade of anaplasia was associated with decreased overall survival (p=0.003) and increased risk of metastasis (p=0.0007). Histopathologic features that were associated with anaplasia included optic nerve invasion (p<0.0001), choroidal invasion (p=<0.0001), and anterior segment invasion (p=0.04). Multivariate analysis considering high-risk histopathology and anaplasia grading as predictors of distant metastasis and death showed that high-risk histopathology was statistically significant as an independent predictor (p=0.01 for metastasis, p=0.03 for death) but anaplasia was not (p=0.63 for metastasis, p=0.30 for death). In the absence of high-risk features, however, severe anaplasia identified an additional risk for metastasis (p=0.0004) and death (p=0.01). Conclusion Grading of anaplasia may be a useful adjunct to standard histopathologic criteria in identifying retinoblastoma patients who do not have high-risk histologic features but still have an increased risk of metastasis and may need adjuvant therapy. PMID:25528954

Bringing explicit insight into cognitive psychology features during clinical reasoning seminars: a prospective, controlled study.

PubMed

Nendaz, Mathieu R; Gut, Anne M; Louis-Simonet, Martine; Perrier, Arnaud; Vu, Nu V

2011-04-01

Facets of reasoning competence influenced by an explicit insight into cognitive psychology features during clinical reasoning seminars have not been specifically explored. This prospective, controlled study, conducted at the University of Geneva Faculty of Medicine, Switzerland, assessed the impact on sixth-year medical students' patient work-up of case-based reasoning seminars, bringing them explicit insight into cognitive aspects of their reasoning. Volunteer students registered for our three-month Internal Medicine elective were assigned to one of two training conditions: standard (control) or modified (intervention) case-based reasoning seminars. These seminars start with the patient's presenting complaint and the students must ask the tutor for additional clinical information to progress through case resolution. For this intervention, the tutors made each step explicit to students and encouraged self-reflection on their reasoning processes. At the end of their elective, students' performances were assessed through encounters with two standardized patients and chart write-ups. Twenty-nine students participated, providing a total of 58 encounters. The overall differences in accuracy of the final diagnosis given to the patient at the end of the encounter (control 63% vs intervention 74%, p = 0.53) and of the final diagnosis mentioned in the patient chart (61% vs 70%, p = 0.58) were not statistically significant. The students in the intervention group significantly more often listed the correct diagnosis among the differential diagnoses in their charts (75% vs 97%, p = 0.02). This case-based clinical reasoning seminar intervention, designed to bring students insight into cognitive features of their reasoning, improved aspects of diagnostic competence.

Complex psychotropic polypharmacy in bipolar disorder across varying mood polarities: A prospective cohort study of 2712 inpatients.

PubMed

Golden, Julia C; Goethe, John W; Woolley, Stephen B

2017-10-15

It is common for patients with bipolar disorder (BP) to receive multiple psychotropics, but few studies have assessed demographic and clinical features associated with risk for receiving complex psychotropic polypharmacy. This longitudinal cohort study examined 2712 inpatients with a DSM-IV clinical diagnosis of BP to assess associations between complex polypharmacy (defined as ≥4 psychotropics) and demographic and clinical features; associations with risk of rehospitalization were also examined. Logistic regressions were performed with the sample as a whole and with each of four DSM-IV BP subtypes individually. Complex polypharmacy was present in 21.0%. BP-I depressed patients were more likely to receive complex regimens than BP-I manic, BP-I mixed or BP-II patients. In the sample as a whole, variables significantly associated with complex polypharmacy included female, white, psychotic features and a co-diagnosis of borderline personality, post-traumatic stress or another anxiety disorder. The only examined medication not significantly associated with complex polypharmacy was lithium, although only in BP-I depressed and BP-I mixed. Complex polypharmacy was associated with rehospitalization in BP-I mania within 15 and 30days post index hospitalization. All data were from one clinical facility; results may not generalize to other settings and patient populations. BP-I depression may pose a greater treatment challenge than the other BP subtypes. Lithium may confer an overall advantage compared to other medications in BP-I depressed and BP-I mixed. Further research is needed to guide pharmacotherapy decisions in BP patients. Copyright © 2017 Elsevier B.V. All rights reserved.

Prevalence and Correlates of Rest Tremor in Essential Tremor: Cross-Sectional Survey of 831 Patients Across Four Distinct Cohorts

PubMed Central

Louis, Elan D.; Hernandez, Nora; Michalec, Monika

2015-01-01

Background Essential tremor (ET) is among the most commonly encountered neurological disorders. Its hallmark feature is kinetic tremor. However, other tremors may also occur in ET patients, creating considerable diagnostic confusion among treating physicians. Hence, characterizing the prevalence and clinical accompaniments of these other tremors is of value. Surprisingly, there are few data on the prevalence of rest tremor in ET patients, and even fewer data on the clinical correlates of such tremor. Methods 831 patients in four distinct settings (population, genetics study, study of environmental epidemiology, brain bank) underwent a detailed videotaped neurological examination that was reviewed by a senior movement disorders neurologist. Rest tremor was evaluated in several positions (seated, standing, lying down). Results The prevalence of rest tremor while seated or standing was lowest in the population-based setting (1.9%), highest in the brain bank study (46.4%), and intermediate in the remaining two settings (9.6% and 14.7%, respectively). Rest tremor was restricted to the arms and was not observed in the legs. Rest tremor was associated with older age, longer disease duration (in some studies), greater tremor severity and, to some extent, the presence of cranial tremors. Conclusions Rest tremor can be a common clinical feature of ET. Its prevalence is highly dependent on the setting in which patients are evaluated, ranging from as low as 1% to nearly 50%. Rest tremor seems to emerge as a clinical feature with advancing disease. The anatomical substrates for this type of tremor remain unknown at present. PMID:25786561

Different Trichoscopic Features of Tinea Capitis and Alopecia Areata in Pediatric Patients

PubMed Central

El-Taweel, Abd-Elaziz; El-Esawy, Fatma; Abdel-Salam, Osama

2014-01-01

Background. Diagnosis of patchy hair loss in pediatric patients is often a matter of considerable debate among dermatologists. Trichoscopy is a rapid and noninvasive tool to detect more details of patchy hair loss. Like clinical dermatology, trichoscopy works parallel to the skin surface and perpendicular to the histological plane; like the histopathology, it thus allows the viewing of structures not discovered by the naked eye. Objective. Aiming to compare the different trichoscopic features of tinea capitis and alopecia areata in pediatric patients. Patients and Methods. This study included 40 patients, 20 patients with tinea capitis and 20 patients with alopecia areata. They were exposed toclinical examination, laboratory investigations (10% KOH and fungal culture), and trichoscope examination. Results. Our obtained results reported that, in tinea capitis patients, comma shaped hairs, corkscrew hairs, and zigzag shaped hairs are the diagnostic trichoscopic features of tinea capitis. While in alopecia areata patients, the most trichoscopic specific features were yellow dots, exclamation mark, and short vellus hairs. Conclusion. Trichoscopy can be used as a noninvasive tool for rapid diagnosis of tinea capitis and alopecia areata in pediatric patients. PMID:25024698

Clinical and histopathological features of fatal cases with dengue and chikungunya virus co-infection in Colombia, 2014 to 2015.

PubMed

Mercado, Marcela; Acosta-Reyes, Jorge; Parra, Edgar; Pardo, Lissethe; Rico, Angélica; Campo, Alfonso; Navarro, Edgar; Viasus, Diego

2016-06-02

We report clinical features and histopathological findings in fatal cases with dengue (DENV) and chikungunya (CHIKV) co-infection identified at the Colombian National Institute of Health between September 2014 and October 2015. Seven such cases were documented. Dengue serotype 2 virus was identified in six cases. All patients were adults and comorbidities were present in four. Fever, arthralgia or myalgia was present in all cases. The frequency of rash, haemorrhage, oedema, and gastrointestinal symptoms was variable. Laboratory findings such as thrombocytopenia, renal failure, and leukocyte count were also inconsistent between cases. Post-mortem tissue examination documented focal hepatocellular coagulative necrosis in three cases, incipient acute pericarditis in one and tubulointerstitial nephritis in one. This study provides evidence of mortality in patients with DENV and CHIKV co-infection. Fatal cases were characterised by variable clinical and laboratory features. Evaluation of histopathology of autopsy tissues provided evidence of the pathological consequences of the disease.

Lupus pneumonitis as the initial presentation of systemic lupus erythematosus: case series from a single institution.

PubMed

Wan, S A; Teh, C L; Jobli, A T

2016-11-01

Objective The aim of this study was to examine the clinical features, treatment and outcome of systemic lupus erythematosus (SLE) patients in our centre who presented with lupus pneumonitis as the initial manifestation. Methods We performed a retrospective review of all patients who presented with lupus pneumonitis during the initial SLE manifestation from March 2006 to March 2015. Results There were a total of five patients in our study who presented with fever and cough as the main clinical features. All patients had pulmonary infiltrates on chest radiographs. High-resolution computed tomography, which was performed in two patients, showed ground glass opacities with patchy consolidations bilaterally. All patients received high-dose steroids, 80% received intravenous cyclophosphamide and 60% received intravenous immunoglobulin. Two patients died from severe lupus pneumonitis within 2 weeks of admission despite treatment with ventilation, steroids, cyclophosphamide and intravenous immunoglobulin. Conclusions Acute lupus pneumonitis is an uncommon presentation of SLE. Mortality in this case series is 40%.

Management of Cerebral Radiation Necrosis: A Retrospective Study of 12 Patients.

PubMed

Liao, Chenlong; Visocchi, Massimiliano; Zhang, Wenchuan; Yang, Min; Zhong, Wenxiang; Liu, Pengfei

2017-01-01

Cerebral radiation necrosis (RN) is a severe complication of radiotherapy for cerebral pathologies. This study discusses the radiographic and pathological features of 12 patients with RN and investigates the management strategy. Eleven patients with brain tumors, and one with cerebral cavernous angioma, treated by surgical resection or Gamma Knife alone before radiotherapy developed RN during follow-up. Surgical resection for the cerebral RN was performed in nine patients, and the other three patients received medical treatment. The clinical features, magnetic resonance imaging (MRI), surgical findings, and pathological sections are reviewed. The diagnosis of RN was confirmed by histological study in all the patients; those with surgical and medical treatment recovered. As a major complication of radiotherapy, from the clinical and neuroradiological points of view, RN may simulate tumor recurrence. Due to the increasing number of patients with RN who will need to be treated in future years, the definite diagnosis and appropriate treatment of RN remain critical.

Clinical characteristics of ocular toxocariasis in Eastern China.

PubMed

Zhou, Min; Chang, Qing; Gonzales, John A; Chen, Qian; Zhang, Yanqiong; Huang, Xin; Xu, Gezhi; Wang, Wenji; Jiang, Rui

2012-09-01

To explore the clinical characteristics of patients with ocular toxocariasis in eastern China. The medical records of 35 cases of ocular toxocariasis in Fudan University Eye & ENT Hospital between May 2009 and April 2011 were retrospectively reviewed and analyzed. UBM, RetCam or fundus imaging, and high-frequency or conventional ultrasonography were performed in these patients. The mean patient age in our series of ocular toxocariasis was 11.86 ± 8.80 years. There were 28 children and seven adults, the majority residing in a rural area (88.57%). All cases were classified into three clinical subtypes: granuloma in the peripheral retina (60% of cases); granuloma in the posterior pole (28.57% of cases); and vitreous inflammation mimicking chronic endophthalmitis (5.71% of cases). We also identified an additional subtype with unique clinical features that we termed "combined type" presenting in 5.71% of our patients. This subtype exhibited granulomas in both the posterior pole and peripheral retina. RetCam fundus imaging was able to identify granulomas in the posterior and peripheral subtypes, 100% and 80.95% of cases respectively. Moreover, UBM combined with conventional ultrasonography identified granulomas in 95% of the peripheral subtype cases and in 100% of the posterior pole subtype cases. This is the first ocular toxocariasis series described in Chinese patients. Compared with reports from developed countries, the ocular features in our series were more severe and complicated, presenting with poorer visual acuity and a high rate of retinal detachment (45.7%). The application of RetCam and UBM during examination in ocular toxocariasis can provide valuable information in determining the severity of disease and features important in considering surgical procedures in such patients.

Distinct features in natural history and outcomes of acute hepatitis C.

PubMed

Bunchorntavakul, Chalermrat; Jones, Lisa M; Kikuchi, Masahiro; Valiga, Mary E; Kaplan, David E; Nunes, Frederick A; Aytaman, Ayse; Reddy, K Rajender; Chang, Kyong-Mi

2015-04-01

Acute hepatitis C (AHCV) provides a diagnostic challenge with diverse clinical presentations. This study was aimed to examine the clinical and demographic features as well as outcomes in AHCV patients identified from inpatient and outpatient hospital settings. Patients with suspected AHCV were recruited from Philadelphia VA Medical Center, Hospital of University of Pennsylvania and Brooklyn VA Medical Center between 2000 and 2010. AHCV was diagnosed by acute serum alanine aminotransferase elevation with anti-hepatitis C virus (HCV) seroconversion, HCV-RNA fluctuations above 1 log, and/or recent high-risk exposure without prior HCV infection, excluding those with human immunodeficiency virus infection. Clinical and therapeutic outcomes were monitored for at least 6 months. A total of 40 AHCV patients were enrolled with a median follow-up of 129 weeks. They were mostly men (68%) and whites (73%) with median age of 43 years, diverse risk factors (33% injection drugs, 20% health care-associated, 3% sexual, and 45% unknown), and wide variations in peak alanine aminotransferase (143 to 3435 U/L) and total bilirubin levels (0.4 to 19.3 mg/dL). Viremia resolved spontaneously in 23% and persisted without therapy in 27%, whereas 50% received interferon α-based therapy with 90% cure (18/20). Distinct clinical scenarios included: (1) wide viremic fluctuations >1 log (65%) and intermittent HCV-RNA negativity; (2) autoantibodies (25% antinuclear antibodies, 69% antismooth muscle antibodies) or autoimmune features; (3) delayed spontaneous viral clearance in 2 patients; (4) rapid cirrhosis progression in 2 patients. AHCV is a heterogenous disease that requires careful monitoring. The lack of apparent risk factor in high proportion of patients and its diverse presentations warrant diagnostic vigilance.

Clinical features and prognosis of patients with acute aortic dissection in China

PubMed Central

Zhao, Lujing; Chai, Yanfen

2017-01-01

Objective To evaluate the clinical features, risk factors, and prognostic significance of different Stanford types of acute aortic dissection (AAD). Methods We retrospectively analyzed the clinical data and prognostic predictors in 105 patients with AAD (37 with Stanford type A and 68 with Stanford type B) at Tianjin Medical University General Hospital and Tianjin 4th Central Hospital from January 2014 to November 2015. Results Patients with Marfan syndrome and bicuspid aortic valve constituted 24.3% and 8.1%, respectively, of patients with type A AAD; these proportions were significantly higher than those of patients with type B AAD (7.4% and 0.0%, respectively). The proportion of iatrogenic causes of type A AAD (8.1%) was significantly higher than that of type B AAD (0.0%). Computed tomography angiography showed that the proportion of involvement of the aortic arch and pericardial effusion (86.5% and 18.9%, respectively) in patients with type A AAD were higher than those in patients with type B AAD (23.5% and 5.9%, respectively). Endovascular treatment was performed in a higher proportion of patients with type B than A AAD (70.6% vs. 5.4%, respectively). Conclusion Systolic blood pressure, pericardial effusion, periaortic hematoma, conservative treatment, and open surgery were independent predictors of increased mortality in patients with AAD. PMID:28345421

Automatic identification of high impact articles in PubMed to support clinical decision making.

PubMed

Bian, Jiantao; Morid, Mohammad Amin; Jonnalagadda, Siddhartha; Luo, Gang; Del Fiol, Guilherme

2017-09-01

The practice of evidence-based medicine involves integrating the latest best available evidence into patient care decisions. Yet, critical barriers exist for clinicians' retrieval of evidence that is relevant for a particular patient from primary sources such as randomized controlled trials and meta-analyses. To help address those barriers, we investigated machine learning algorithms that find clinical studies with high clinical impact from PubMed®. Our machine learning algorithms use a variety of features including bibliometric features (e.g., citation count), social media attention, journal impact factors, and citation metadata. The algorithms were developed and evaluated with a gold standard composed of 502 high impact clinical studies that are referenced in 11 clinical evidence-based guidelines on the treatment of various diseases. We tested the following hypotheses: (1) our high impact classifier outperforms a state-of-the-art classifier based on citation metadata and citation terms, and PubMed's® relevance sort algorithm; and (2) the performance of our high impact classifier does not decrease significantly after removing proprietary features such as citation count. The mean top 20 precision of our high impact classifier was 34% versus 11% for the state-of-the-art classifier and 4% for PubMed's® relevance sort (p=0.009); and the performance of our high impact classifier did not decrease significantly after removing proprietary features (mean top 20 precision=34% vs. 36%; p=0.085). The high impact classifier, using features such as bibliometrics, social media attention and MEDLINE® metadata, outperformed previous approaches and is a promising alternative to identifying high impact studies for clinical decision support. Copyright © 2017 Elsevier Inc. All rights reserved.

Bullous Complex Regional Pain Syndrome: A description of the clinical and histopathologic features.

PubMed

Ho, J D; Al-Haseni; Smith, S; Bhawan, J; Sahni, D

2018-04-27

Complex regional pain syndrome (CRPS, formerly reflex sympathetic dystrophy) is a poorly understood syndrome occurring most commonly after peripheral trauma.(1) Diagnostic features include pain, autonomic dysregulation, sensory/motor abnormalities and trophic changes involving the affected limb.(1,2) Dermatologic findings include erythema, atrophy, xerosis, erosive disease, and reticulated erythematous patches.(3,4) Exceptionally, blistering has been reported.(5-7) Given its rarity, the clinical and histopathologic findings of bullous CRPS are not well described. We report a case of bullous CRPS in a patient with mycosis fungoides (MF), describing the clinical and histopathologic features of this uncommon entity. This article is protected by copyright. All rights reserved.

Transient epileptic amnesia: clinical report of a cohort of patients.

PubMed

Lapenta, Leonardo; Brunetti, Valerio; Losurdo, Anna; Testani, Elisa; Giannantoni, Nadia Mariagrazia; Quaranta, Davide; Di Lazzaro, Vincenzo; Della Marca, Giacomo

2014-07-01

Transient epileptic amnesia is a seizure disorder, usually with onset in the middle-elderly and good response to low dosages of antiepileptic drugs. We describe the clinical, electroencephalography (EEG), and neuroimaging features of 11 patients with a temporal lobe epilepsy characterized by amnesic seizures as the sole or the main symptom. We outline the relevance of a detailed clinical history to recognize amnesic seizures and to avoid the more frequent misdiagnoses. Moreover, the response to monotherapy was usually good, although the epileptic disorder was symptomatic of acquired lesions in the majority of patients.

Clinical characteristics of patients with chronic obstructive pulmonary disease overlapped with bronchial asthma.

PubMed

Liang, Jing-Bo; Liu, Li-Jin; Fang, Qiu-Hong

2017-05-01

The clinical characteristics of patients with chronic obstructive pulmonary disease overlapped with bronchial asthma (COPD-BA) have not been discussed thoroughly. To reveal the clinical features of patients with COPD-BA, to evaluate the risk factors of COPD-BA, and to provide suggestions for COPD individualized therapy. A retrospective observational study was performed. A total of 182 patients with COPD (90 with COPD-BA and 92 with pure COPD) were recruited in the study. Information on the following items was collected: demographics, clinical manifestations, complications, laboratory findings, other histories, and inpatient treatments during exacerbation. A total of 182 patients were diagnosed with COPD, with 90 (49.45%) being classified as having COPD-BA. Patients with COPD-BA were more likely to be female (P = .004) and experienced more severe respiratory exacerbations (P = .04) despite being younger (P = .008). Those patients at onset of recurrent cough and sputum production were younger (P = .001). Significantly, a positive asthmatic family history (P = .03) was observed. Patients with COPD-BA usually had higher level of total serum IgE (although no differences were observed), had higher positive rates of the serum specific IgE (P = .004), and were more like to have an allergic history (P = .003). Allergic factor was the risk factor of COPD-BA (odds ratio, 4.477). During hospitalization, patients with COPD-BA tended to be treated with systemic corticosteroids (P = .008). Patients with COPD-BA were characterized by persistent airflow limitation with unique clinical features. Allergic factor was associated with the presence of asthmatic characteristics in patients with COPD. When hospitalized for exacerbation, the individualized therapy for COPD-BA might include the use of corticosteroids systemically. Copyright © 2017 American College of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

Familial endocrine myxolentiginosis.

PubMed

Panossian, D H; Marais, G E; Marais, H J

1995-11-01

We present an unusual case of a left atrial myxoma as a feature of a familial mesoectodermal disorder and review the literature. The new term "familial endocrine myxolentiginosis" is proposed, which is descriptive of the major clinical components of the syndrome. Myriad features of this disorder include (1) cardiac myxomas; (2) cutaneous myxomas; (3) multiple lentigines or blue nevi, particularly of the head and neck; (4) bilateral primary pigmented nodular adrenocortical hyperplasia; (5) unusual testicular tumors; (6) pituitary tumors; (7) myxoid fibroadenomas of the breast; (8) myxomatous disorder of the stroma of the breast; (9) ductal adenoma of the breast; and (10) psammomatous melanotic schwannoma. A tentative diagnosis is suggested by identifying two features and a definitive diagnosis is made by three or more features. The clinical and pathologic features of cardiac myxoma in familial endocrine myxolentiginosis are identical to those of familial cardiac myxoma: age < 40 years, atypical locations, multicentric origins, and recurrent presentations. A Venn diagram classification for cardiac myxomas is proposed. We include photographic, echocardiographic, biopsy, and adrenal computerized tomography documentation in our patient. Recognition of this disorder is important because of its clinical, surgical, and genetic implications. The availability of transesophageal echocardiographic technology should allow early diagnosis of this underdiagnosed entity. Clinicians should consider this entity in the differential diagnosis of their patients with any one of these manifestations.

Subependymal heterotopia: a distinct neuronal migration disorder associated with epilepsy.

PubMed Central

Raymond, A A; Fish, D R; Stevens, J M; Sisodiya, S M; Alsanjari, N; Shorvon, S D

1994-01-01

Subependymal heterotopia has recently been recognised as a cause of epilepsy, but the clinical and investigational features have not been fully described. The clinical, psychometric, imaging, and electroencephalographic features of 13 adult patients with subependymal heterotopia and epilepsy have been reviewed. Age at seizure onset ranged from 18 months to 20 years (median 13 years). There were significantly more female (12) than male (1) patients (p < 0.01). Diagnosis of subependymal heterotopia was made by MRI in 11 patients and CT in two. The heterotopic grey matter was nodular in 11 patients and diffuse in two; bilateral in eight and unilateral in five. There were significantly more patients with predominant right than left cerebral hemisphere involvement (p < 0.01). The most commonly involved site was the occipital horn of the lateral ventricles (10 of 13 patients). Eleven patients presented with partial epilepsy, 10 of whom also had secondarily generalised seizures. The clinical description of the seizures often suggested either an occipital (four patients) or temporal (five patients) onset. Two patients presented with absence attacks without clear focal features. Patients demonstrated normal early milestones (12 of 13 patients), including normal motor development (all patients) and average or above average intelligence (10 of 13 patients). An EEG examination showed normal background activity in all but two patients, one of whom had large intracranial haematomas. Epileptiform activity was usually widespread (10 of 13 patients) and in three patients, there was generalised 3-Hz spike and wave activity that had previously led to an erroneous diagnosis of concomitant primary generalised epilepsy. Onset of epilepsy in the second decade of life, normal developmental milestones and intelligence, and the finding of an overwhelming female preponderance differentiates subependymal heterotopia from other cortical dysgeneses. The female preponderance supports the importance of the X chromosome and sex steroids in the maturation and development of the cerebral cortex. Images PMID:7931380

Hidden flexion injury of the cervical spine.

PubMed

Webb, J K; Broughton, R B; McSweeney, T; Park, W M

1976-08-01

This paper describes seven patients who developed late vertebral deformity after flexion injuries of the cervical spine. In four the clinical and radiological features were subtle and because the patients walked into an emergency department the severity of the injury was not initially appreciated. Certain specific clinical and radiological features of flexion injury are described and emphasis is placed on the importance of correct management. A radiological tetrad is described which should alert the surgeon to the possibility of damage to the posterior interspinous complex of the cervical spine and so lead to further radiological investigations. Despite the frequency of flexion injuries the alarming complications described in this paper are rare.

Clinical features of congenital portosystemic shunt in children.

PubMed

Kim, Myung Jin; Ko, Jae Sung; Seo, Jeong Kee; Yang, Hye Ran; Chang, Ju Young; Kim, Gi Beom; Cheon, Jung-Eun; Kim, Woo Sun

2012-02-01

Clinical features, images, complications, treatments, and prognosis of 10 children with congenital portosystemic shunt (CPSS) were reviewed. Nine children were diagnosed with intrahepatic shunts while one presented with extrahepatic shunt. CPSS was detected by prenatal ultrasonography in four infants. Three infants presented with galactosemia without an enzyme deficiency. Two children presented with mental retardation and attention deficit hyperactivity disorder. Pulmonary hypertension developed in two patients. Spontaneous closure occurred in four infants with intrahepatic shunts including patent ductus venosus. The shunts were closed using transcatheter embolizations in four patients with intrahepatic shunts. Intrahepatic shunts may close spontaneously. Transcatheter embolization is effective for the treatment of symptomatic intrahepatic shunts.

Chronic cough: clinical characteristics and etiologies of 510 cases.

PubMed

Jiang, Guiyuan; Huang, Xinying; Li, Tianlin; Xu, Dongping

2016-12-20

To investigate the clinical features and underlying etiologies of chronic cough (CC). Five hundred and ten CC patients were enrolled. The phases, characteristics and associated clinical manifestations of CC among the gastroesophageal reflux cough (GERC), cough-variant asthma (CVA), and upper airway cough syndrome (UACS) groups were compared, and the diagnostic values of each group were evaluated by multiple regression analysis. In the 510 patients, 404 had CC with single etiology-GERC (n = 175), CVA (n = 134), and UACS (n = 95). The characteristic features of GERC included gastric acid backflow symptoms such as sour-tasting regurgitation, heartburn, endoscopic esophagitis, poststimulation cough, frequent throat clearing, daytime mono-cough, and feelings of heaviness and pain in the chest. Patients with CVA typically exhibited sensitivity to smog and other irritants; the cough occurred mostly at night, and was associated with positive bronchodilator and provocation test results. The typical features of UACS included a history and/or symptoms of rhinitis, retropharyngeal postnasal drip, and wet cough occurring mostly during the daytime. The diagnostic specificities of above factors were >70%. The most common causes of CC include GERC, CVA, and UACS, and their diagnosis is based on the characteristics of the underlying disease.

[Clinical characteristics and surgical management in patients with third and fourth branchial anomalies].

PubMed

Li, Y X; He, X G; Wang, Y; Yang, X

2016-08-05

Objective: To analysize the clinical characteristics as well as the effect and methods of the surgical treatment in patiets with the third and fourth branchial anomalies. Method: The clinical data of 25 patients diagnosed as third and fourth branchial cleft fistula by pathological method were analyzed retrospectively.Two of 25 patients had undergone fistulectomy simply.Based on the embryologicc and anatomic features of branchial anomalies,23 of 25 patients had received different types of selective neck dissection.All of lesions were confirmed as branchial cleft fistula by pathology.All patients were received the examinations of Esophagus myelography,MRI and CT preoperatively. Result: The features of the third and the fourth bianchial fistula were as following:most patients suffered from recurrent neck abscess and had undergone incision and drainage. Esophagus myelography and CT were important auxiliary examination for branchial anomalies.No recurrent and complications were found in all patients by using treatment of selective neck dissection (23/25 cases) and fistulectomy simply(2/25 cases) within 12 to 36 months following-up,postoperatively. Conclusion: Branchial anomalies is characterized by recurrent acute abscess,acute thyroiditis or fistula secretion inferior to neck.Complete removal of branchial lesions and inflammatory granuloma using selective neck dissection is a safty and effective treatment for recurrent branchial anomalies. Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.

PubMed

Nabbout, Rima; Depienne, Christel; Chipaux, Mathilde; Girard, Benoit; Souville, Isabelle; Trouillard, Oriane; Dulac, Olivier; Chelly, Jamel; Afenjar, Alexandra; Héron, Delphine; Leguern, Eric; Beldjord, Cherif; Bienvenu, Thierry; Bahi-Buisson, Nadia

2009-11-01

Severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome (DS) is a distinctive epilepsy syndrome often associated with de novo mutations in the SCN1A gene. However, 25-30% patients with SMEI/DS are negative for SCN1A mutation screening, suggesting that other molecular mechanisms may account for these disorders. Given the overlapping and heterogeneous clinical features of CDKL5- and ARX-related epilepsies and SMEI/DS, we postulated that CDKL5 mutations in females and ARX mutations gene in males may be associated with early onset seizures forms of SMEI/DS. Twenty-eight patients with early onset SMEI/DS before 6 months negative for SCN1A mutational screening were selected and screened for mutations in the ARX gene in males (n=14) or the CDKL5 gene in females (n=14). No mutations in either gene were found except one intronic variation of uncertain pathogenicity in the CDKL5 gene. All patients started seizures at mean age of 3.48 months. Thirteen patients had familial history of epilepsy or febrile seizures. Patients evolved toward refractory epilepsy with generalized tonic clonic seizures (18/28) and myoclonia (23/28) and severe neurological impairment with autistic features (13/28), ataxia (14/28) and spasticity (5/28). No patient ever exhibited infantile spasms, dystonia, or Rett-like features. Our results illustrate that mutation screening of ARX and CDKL5 is not effective in patients selected on the basis of clinical signs associated to early onset SMEI/DS. In addition, they might reflect that other phenotypic features associated with CDKL5 mutations (Rett-like features, infantile spasm) or ARX mutations (dystonia, spasticity) are more distinctive. 2009 Elsevier B.V. All rights reserved.

Animal-Assisted Therapy for Patients Undergoing Treatment at NIH Clinical Center | NIH MedlinePlus the Magazine

MedlinePlus

... this page please turn JavaScript on. Feature: Therapy Dogs Animal-Assisted Therapy for Patients Undergoing Treatment at ... Kerry (middle), a patient, is with the therapy dog team of Jeanette Golden (left) and Tucker the ...

Impairments in the Face-Processing Network in Developmental Prosopagnosia and Semantic Dementia

PubMed Central

Mendez, Mario F.; Ringman, John M.; Shapira, Jill S.

2015-01-01

Background Developmental prosopagnosia (DP) and semantic dementia (SD) may be the two most common neurologic disorders of face processing, but their main clinical and pathophysiologic differences have not been established. To identify those features, we compared patients with DP and SD. Methods Five patients with DP, five with right temporal-predominant SD, and ten normal controls underwent cognitive, visual perceptual, and face-processing tasks. Results Although the patients with SD were more cognitively impaired than those with DP, the two groups did not differ statistically on the visual perceptual tests. On the face-processing tasks, the DP group had difficulty with configural analysis and they reported relying on serial, feature-by-feature analysis or awareness of salient features to recognize faces. By contrast, the SD group had problems with person knowledge and made semantically related errors. The SD group had better face familiarity scores, suggesting a potentially useful clinical test for distinguishing SD from DP. Conclusions These two disorders of face processing represent clinically distinguishable disturbances along a right hemisphere face-processing network: DP, characterized by early configural agnosia for faces, and SD, characterized primarily by a multimodal person knowledge disorder. We discuss these preliminary findings in the context of the current literature on the face-processing network; recent studies suggest an additional right anterior temporal, unimodal face familiarity-memory deficit consistent with an “associative prosopagnosia.” PMID:26705265