Trisomy 10 in acute myeloid leukemia: three new cases.

PubMed

Llewellyn, I E; Morris, C M; Stanworth, S; Heaton, D C; Spearing, R L

2000-04-15

Trisomy 10 is a rare nonrandom cytogenetic abnormality found in association with acute myeloid leukemia (AML). The hematological and clinical features associated with this finding have not yet been clearly defined. A literature review revealed 13 cases of trisomy 10 in AML, some reported as a minority component of a more comprehensive AML study and therefore lacking a full description of both clinical and hematological features. We present a summary of these reports and add three new cases to the literature.

Analysis of molecular subtypes for the increased HER2 equivocal cases caused by application of the updated 2013 ASCO/CAP HER2 testing guidelines in breast cancer.

PubMed

Guo, Lei; Yuan, Pei; Zhang, Jing; Ling, Yun; Li, Wenbin; Zhao, Bohui; Ying, Jianming; Xuan, Lixue

2017-11-01

Accurate testing of the status of human epidermal growth factor receptor type 2 (HER2) is a prerequisite for HER2-directed therapy. The American Society of Clinical Oncology (ASCO) and the College of American Pathologists (CAP) published joint guideline recommendations for HER2 testing in breast cancer in 2007 and it was updated in 2013. We compared the HER2 gene amplification status based on these two guidelines and analyzed the molecular characteristics of the equivocal cases. A total of 1894 patient samples were analyzed for both immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH). HER2 FISH amplification was examined and re-assessed using 2013 guidelines. According to the 2013 ASCO/CAP recommendations, 763 (40.3%) cases were classified as HER2 positive compared with 729 (38.5%) cases defined by 2007 guidelines. There was a significant increase of 6.1% in the proportion of HER2 FISH equivocal cases that were interpreted using ASCO/CAP 2013 (7.3%) compared with 2007 (1.2%) guidelines (P < 0.001). Of 138 FISH equivocal cases defined by 2013 guidelines, 125 cases were IHC2+ and 13 cases were IHC1+. These 125 cases included 4 double equivocal cases which were defined as equivocal by both 2007 and 2013 guidelines and 121 cases whose status was changed from negative defined by 2007 guidelines to equivocal defined by 2013 guidelines. Compared with luminal A type and luminal B type respectively, these 121 equivocal cases demonstrated no significant difference with luminal B type in T stage and N stage (P = 0.192, P = 0.421). When we divided the luminal B type into two parts that included HER2 negative cases and HER2 positive cases, the equivocal cases also showed no significant difference with these two subtypes in T stage and N stage. Our study suggested that implementation of the revised ASCO/CAP 2013 guidelines resulted in an increase of 1.7% in overall HER2 positivity rate and of 6.1% in equivocal cases. Pathological analysis revealed that these equivocal cases exhibit similar biological behavior with luminal B type tumors. Clinical utility data on targeted therapy in equivocal patients should be further investigated.

A comparison of human metapneumovirus and respiratory syncytial virus WHO-defined severe pneumonia in Moroccan children.

PubMed

Jroundi, I; Mahraoui, C; Benmessaoud, R; Moraleda, C; Tligui, H; Seffar, M; El Kettani, S E C; Benjelloun, B S; Chaacho, S; Muñoz-Almagro, C; Ruiz, J; Alonso, P L; Bassat, Q

2016-02-01

Acute respiratory infections remain the principal cause of morbidity and mortality in Moroccan children. Besides bacterial infections, respiratory syncytial virus (RSV) and human metapneumovirus (hMPV) are prominent among other viruses due to their high prevalence and association with severe clinical episodes. We aimed to describe and compare RSV- and hMPV-associated cases of WHO-defined severe pneumonia in a paediatric population admitted to Morocco's reference hospital. Children aged 2-59 months admitted to the Hôpital d'Enfants de Rabat, Morocco meeting WHO-defined severe pneumonia criteria were recruited during 14 months and thoroughly investigated to ascertain a definitive diagnosis. Viral prevalence of RSV, hMPV and other viruses causing respiratory symptoms was investigated in nasopharyngeal aspirate samples through the use of molecular methods. Of the 683 children recruited and included in the final analysis, 61/683 (8·9%) and 124/683 (18·2%) were infected with hMPV and RSV, respectively. Besides a borderline significant tendency for higher age in hMPV cases, patients infected with either of the viruses behaved similarly in terms of demographics, patient history, past morbidity and comorbidity, vaccination history, socioeconomic background and family environment. Clinical presentation on arrival was also similar for both viruses, but hMPV cases were associated with more severity than RSV cases, had a higher risk of intensive care need, and received antibiotic treatment more frequently. RSV and hMPV are common and potentially life-threatening causes of WHO-defined pneumonia in Moroccan children. Both viruses show indistinctive clinical symptomatology, but in Moroccan children, hMPV was associated with a more severe evolution.

Public Health Response to US Cases of Candida auris, a Globally Emerging, Multidrug-Resistant Yeast, 2013–2017

PubMed Central

Tsay, Sharon; Welsh, Rory M; Adams, Eleanor H; Chow, Nancy A; Gade, Lalitha; Berkow, Elizabeth L; Lutterloh, Emily; Quinn, Monica; Chaturvedi, Sudha; Fernandez, Rafael; Giardina, Rosalie; Greenko, Jane; Southwick, Karen; Kerins, Janna L; Black, Stephanie; Kemble, Sarah K; Barrett, Patricia M; Greeley, Rebecca; Barton, Kerri; Shannon, Dj; Kallen, Alexander; Shugart, Alicia; Litvintseva, Anastasia P; Lockhart, Shawn; Chiller, Tom; Jackson, Brendan R; Vallabhaneni, Snigdha

2017-01-01

Abstract Background Candida auris is an often multidrug-resistant yeast that causes invasive infections and, unlike most Candida species, spreads in healthcare facilities. CDC released a clinical alert in June 2016 requesting reporting of C. auris cases. We investigated cases to contain transmission and inform prevention measures for this novel organism. Methods Clinical cases were defined as C. auris from any clinical specimen from a patient in the United States. Response to cases included implementation of infection control measures, enhanced cleaning and disinfection, and testing of close contacts for C. auris colonisation (isolation from a person’s axilla or groin was defined as a screening case). Microbiology records were reviewed at reporting facilities for missed cases. All isolates were forwarded to CDC for confirmation, antifungal susceptibility testing, and whole-genome sequencing (WGS). Results As of April 13, 2017, 61 clinical cases of C. auris were reported from six states: New York (39), New Jersey (15), Illinois (4), Indiana (1), Maryland (1), and Massachusetts (1). All but two occurred since 2016 (Figure). An additional 32 screening cases were identified among contacts. Median age of clinical case-patients was 70 years (range 21–96); 56% were male. Nearly, all had underlying medical conditions and extensive exposure to healthcare facilities before infection. Most clinical isolates were from blood (38, 62%), followed by urine (8, 13%) and respiratory tract (5, 8%). Among the first 35 isolates, 30 (86%) were resistant to fluconazole, 15 (43%) to amphotericin B, and one (3%) to caspofungin. No isolate was resistant to all three. WGS revealed isolates from each state were highly related and different from other states, suggestive of transmission. Microbiology record reviews did not identify additional cases before 2016. Conclusion C. auris is an emerging pathogen, with similarities to multidrug-resistant bacteria, that has been transmitted in US healthcare settings. CDC and public health partners are committed to prompt and aggressive action through investigation of cases and heightened infection control practices to halt its spread. Disclosures All authors: No reported disclosures.

Neighborhood graph and learning discriminative distance functions for clinical decision support.

PubMed

Tsymbal, Alexey; Zhou, Shaohua Kevin; Huber, Martin

2009-01-01

There are two essential reasons for the slow progress in the acceptance of clinical case retrieval and similarity search-based decision support systems; the especial complexity of clinical data making it difficult to define a meaningful and effective distance function on them and the lack of transparency and explanation ability in many existing clinical case retrieval decision support systems. In this paper, we try to address these two problems by introducing a novel technique for visualizing inter-patient similarity based on a node-link representation with neighborhood graphs and by considering two techniques for learning discriminative distance function that help to combine the power of strong "black box" learners with the transparency of case retrieval and nearest neighbor classification.

Epidemic cholera in Latin America, 1991-1993: implications of case definitions used for public health surveillance.

PubMed

Koo, D; Traverso, H; Libel, M; Drasbek, C; Tauxe, R; Brandling-Bennett, D

1996-06-01

This report presents the various cholera case definitions used by the affected countries of Latin America, shows the numbers of cholera cases and deaths attributable to cholera (as reported by Latin American countries to PAHO through 1993), and describes some regional trends in cholera incidence. The information about how cholera cases were defined was obtained from an October 1993 PAHO questionnaire. In all, 948429 cholera cases were reported to PAHO by affected Latin American countries from January 1991 through December 1993, the highest annual incidences being registered in Peru (1991 and 1992) and Guatemala (1993). The case-fatality rate over the three-year period, and also in 1993, was 0.8%. A general downward trend in the incidence of cholera was observed in most South American countries, while the incidence increased in most Central American countries. A good deal of variation was noted in the definitions used for reporting cholera cases, hospitalized cholera cases, and cholera-attributable deaths. Because of these variations, broad intercountry comparisons (including disease burden calculations and care quality assessments based on case-fatality rates) are difficult to make, and even reported trends within a single country need to be evaluated with care. The situation is likely to be complicated in the future by the arrival of V. cholerae O139 in Latin America, creating a need to distinguish between it and the prevailing O1 strain. For purposes of simplicity, wide acceptance, and broad dissemination of case data, the following definitions are recommended: Confirmed case of O1 cholera: laboratory-confirmed infection with toxigenic V. cholerae O1 in any person who has diarrhea. Confirmed case of O139 cholera: laboratory-confirmed infection with toxigenic V. cholerae O139 in any person who has diarrhea. Clinical case of cholera: acute watery diarrhea in a person over 5 years old who is seeking treatment. Death attributable to cholera: death within one week of the onset of diarrhea in a person with confirmed or clinically defined cholera. Hospitalized patient with cholera:a person who has confirmed or clinically defined cholera and who remains at least 12 hours in a health care facility for treatment of the disease.

Revision of clinical case definitions: influenza-like illness and severe acute respiratory infection

PubMed Central

Qasmieh, Saba; Mounts, Anthony Wayne; Alexander, Burmaa; Besselaar, Terry; Briand, Sylvie; Brown, Caroline; Clark, Seth; Dueger, Erica; Gross, Diane; Hauge, Siri; Hirve, Siddhivinayak; Jorgensen, Pernille; Katz, Mark A; Mafi, Ali; Malik, Mamunur; McCarron, Margaret; Meerhoff, Tamara; Mori, Yuichiro; Mott, Joshua; Olivera, Maria Teresa da Costa; Ortiz, Justin R; Palekar, Rakhee; Rebelo-de-Andrade, Helena; Soetens, Loes; Yahaya, Ali Ahmed; Zhang, Wenqing; Vandemaele, Katelijn

2018-01-01

Abstract The formulation of accurate clinical case definitions is an integral part of an effective process of public health surveillance. Although such definitions should, ideally, be based on a standardized and fixed collection of defining criteria, they often require revision to reflect new knowledge of the condition involved and improvements in diagnostic testing. Optimal case definitions also need to have a balance of sensitivity and specificity that reflects their intended use. After the 2009–2010 H1N1 influenza pandemic, the World Health Organization (WHO) initiated a technical consultation on global influenza surveillance. This prompted improvements in the sensitivity and specificity of the case definition for influenza – i.e. a respiratory disease that lacks uniquely defining symptomology. The revision process not only modified the definition of influenza-like illness, to include a simplified list of the criteria shown to be most predictive of influenza infection, but also clarified the language used for the definition, to enhance interpretability. To capture severe cases of influenza that required hospitalization, a new case definition was also developed for severe acute respiratory infection in all age groups. The new definitions have been found to capture more cases without compromising specificity. Despite the challenge still posed in the clinical separation of influenza from other respiratory infections, the global use of the new WHO case definitions should help determine global trends in the characteristics and transmission of influenza viruses and the associated disease burden. PMID:29403115

Contribution of MRI to clinically equivocal penile fracture cases.

PubMed

Türkay, Rüştü; Yenice, Mustafa Gürkan; Aksoy, Sema; Şeker, Gökhan; Şahin, Selçuk; İnci, Ercan; Tuğcu, Volkan; Taşcı, Ali İhsan

2016-11-01

Penile fracture is a surgical emergency defined as rupture of the tunica albuginea. Although most cases can be diagnosed with clinical evaluation, it has been stated in the literature that diagnosis in as many as 15% of cases can be challenging. In uncertain cases, imaging can help determine diagnosis. Present study included 20 cases where diagnosis could not be made with certainty and magnetic resonance imaging (MRI) was performed. MR images were examined for tunical rupture and accompanying pathologies. When rupture was observed, localization and length of rupture were noted. All patients underwent degloving surgery. All imaging findings were compared to surgical findings. MRI revealed 19 tunical ruptures. In 1 case, hematoma was seen with no sign of penile fracture. No urethral injuries were found. All MRI findings were confirmed during surgery. Performing MRI in clinically equivocal cases can provide crucial data to make precise diagnosis and improve patient management.

Combination of Scoring Criteria and Whole Exome Sequencing Analysis of Synchronous Endometrial and Ovarian Carcinomas.

PubMed

Yang, Lingyi; Zhang, Lin; Huang, Qiujuan; Liu, Changxu; Qi, Lisha; Li, Lingmei; Qu, Tongyuan; Wang, Yalei; Liu, Suxiang; Meng, Bin; Sun, Baocun; Cao, Wenfeng

2018-05-01

The purpose of this study was to distinguish synchronous primary endometrial and ovarian carcinomas from single primary tumor with metastasis by clinical pathologic criteria and whole exome sequencing (WES). Fifty-two patients with synchronous endometrial and ovarian carcinomas (SEOCs) between 2010 and 2017 were reviewed and subjected to WES. On the basis of the Scully criteria, 11 cases were supposed as synchronous primary endometrial and ovarian carcinomas, 38 cases as single primary tumor with metastasis, and the remaining 3 cases (S50-S52) cannot be defined. Through a quantization scoring analysis, 9 cases that were scored 0-1 point were defined as synchronous primary endometrial and ovarian carcinomas, and 42 cases that were scored 3-8 points were defined as single primary tumor with metastasis. Two of the undefined cases were classified into metastatic disease, and another one that scored 2 points (S52) was subjected to WES. S52 was deemed synchronous primary endometrial and ovarian carcinomas, with few shared somatic mutations and overlapping copy number varieties. The finding of a serous component examined from the uterine endometrium samples further illustrated that the case was synchronous primary endometrial and ovarian carcinomas. By scoring criterion, SEOCs were divided into 2 groups: synchronous primary endometrial and ovarian carcinoma group and single primary tumor with metastasis group. The analysis of clonality indicated that the case that scored 2 (S52) can be considered as synchronous primary endometrial and ovarian carcinomas. Scoring criteria of clinical pathology, along with the study of the WES, may further identify the classification of SEOCs.

A case-control study of influenza vaccine effectiveness among Malaysian pilgrims attending the Haj in Saudi Arabia.

PubMed

Mustafa, Amal Nasir; Gessner, Bradford D; Ismail, Raman; Yusoff, Ahmad Faudzi; Abdullah, Nasuruddin; Ishak, Ilina; Abdullah, Norazmi; Merican, Mohd Ismail

2003-09-01

To determine influenza vaccine effectiveness against clinically defined influenza-like illness among Malaysian pilgrims attending the Haj in Saudi Arabia. During February and March 2000, the authors conducted an unmatched case-control study. Case patients were identified at one of five hotel clinics, while controls were residents of these hotels who had not attended a clinic. Among 820 case patients--84% of whom had received antibiotics--and 600 controls, the adjusted vaccine effectiveness against clinic visits for influenza-like illness was 77% (95% confidence interval: 69, 83), and that against receipt of antibiotics was 66% (95% confidence interval, 54, 75). The vaccine did not prevent clinic visits for non-influenza-like upper respiratory tract illness (adjusted vaccine effectiveness, 20%; 95% confidence interval: -24, 49). Influenza vaccine was effective in preventing clinic visits for influenza-like illness and antibiotic use. Pilgrims traveling to the Haj in Saudi Arabia should consider influenza vaccination use.

Fully covered self-expanding metal stents for refractory anastomotic colorectal strictures.

PubMed

Caruso, Angelo; Conigliaro, Rita; Manta, Raffaele; Manno, Mauro; Bertani, Helga; Barbera, Carmelo; Mirante, Vincenzo Giorgio; Frazzoni, Marzio

2015-05-01

Some patients with benign colorectal obstruction do not respond to endoscopic balloon dilation. Fully covered self-expandable metal stents (FCSEMSs) have several potential advantages over non-covered stents, including a higher likelihood of retrieval owing to limited local tissue reaction. However, the efficacy and safety of FCSEMSs in benign colorectal strictures have not yet been established. Retrospective analysis of prospectively collected data concerning patients with post-surgical benign symptomatic anastomotic colorectal strictures, refractory to endoscopic dilation and in whom FCSEMSs had been placed at our center. Technical success was defined as successful stent placement and deployment at the stricture site. Early clinical success was defined as symptom relief persisting at least for 3 days. Follow-up was based on monthly clinical evaluation and quarterly endoscopic assessment. Endoscopic stent removal was planned on the basis of clinical or endoscopic assessment. Prolonged clinical success was defined as persistent symptom relief during follow-up. Technical and early clinical success were obtained in 16 of 16 (100%) patients. The median follow-up was 21 months. Prolonged clinical success was achieved in 9/16 (56%) cases. There was no major complication, including perforation and bleeding. Stent migration occurred in 3 (19%) cases, in two of them associated with clinical failure. The median stent diameter was significantly higher in patients with successful than in those with unsuccessful clinical outcome (26 vs. 20 mm, P = 0.006). The clinical success rate was 1/6 (17%) in patients who received a 20-22 mm stent and 8/10 (80%) in those who received a 24-26 mm stent, respectively (P = 0.035). FCSEMSs can represent effective and safe treatment for refractory anastomotic colorectal strictures. Large diameter stents are warranted for better results.

Writing a case report: polishing a gem?

PubMed

Papanas, N; Lazarides, M K

2008-08-01

Case reports describe patient cases which are of particular interest due to their novelty and their potential message for clinical practice. While there are several types of case reports, originality and clinical implications constitute the main virtues by which case reports are judged. Defining the educational message and choosing the right audience are vital steps in the process of writing. Generally, a case report is structured, its main components being the abstract, the introduction, the case description and the discussion. Guidelines and tips for writing case reports are not enough for making a successful author, but they help, especially less experienced doctors, to exercise and improve their writing. If properly prepared, case reports can still communicate new observations in an interesting and pleasant way, thereby enriching our knowledge, even in the era of evidence-based medicine.

A case report of esophageal perforation: Complication of nasogastric tube placement

PubMed Central

Isik, Arda; Firat, Deniz; Peker, Kemal; Sayar, Ilyas; Idiz, Oguz; Soytürk, Mehmet

2014-01-01

Patient: Male, 70 Final Diagnosis: Esophageal perforation Symptoms: Abdominal pain • nausea • vomiting Medication: — Clinical Procedure: — Specialty: Surgery Objective: Unusual clinical course Background: Esophageal perforation is a well-defined and severe clinical condition. There are several etiologies of esophagus perforation. Case Report: We report the case of a 70-year-old Caucasian man who underwent an emergency cholecystectomy due to acute cholecystitis. Two days after surgery, his condition deteriorated. Thorax computerized tomography revealed an esophageal perforation. Conclusions: Esophageal perforation due to nasogastric application is relatively rare but the consequences are potentially serious. The anatomy of the upper gastrointestinal system should be understood by all healthcare professionals involved in the treatment. PMID:24803977

The 10/66 Dementia Research Group's fully operationalised DSM-IV dementia computerized diagnostic algorithm, compared with the 10/66 dementia algorithm and a clinician diagnosis: a population validation study

PubMed Central

Prince, Martin J; de Rodriguez, Juan Llibre; Noriega, L; Lopez, A; Acosta, Daisy; Albanese, Emiliano; Arizaga, Raul; Copeland, John RM; Dewey, Michael; Ferri, Cleusa P; Guerra, Mariella; Huang, Yueqin; Jacob, KS; Krishnamoorthy, ES; McKeigue, Paul; Sousa, Renata; Stewart, Robert J; Salas, Aquiles; Sosa, Ana Luisa; Uwakwa, Richard

2008-01-01

Background The criterion for dementia implicit in DSM-IV is widely used in research but not fully operationalised. The 10/66 Dementia Research Group sought to do this using assessments from their one phase dementia diagnostic research interview, and to validate the resulting algorithm in a population-based study in Cuba. Methods The criterion was operationalised as a computerised algorithm, applying clinical principles, based upon the 10/66 cognitive tests, clinical interview and informant reports; the Community Screening Instrument for Dementia, the CERAD 10 word list learning and animal naming tests, the Geriatric Mental State, and the History and Aetiology Schedule – Dementia Diagnosis and Subtype. This was validated in Cuba against a local clinician DSM-IV diagnosis and the 10/66 dementia diagnosis (originally calibrated probabilistically against clinician DSM-IV diagnoses in the 10/66 pilot study). Results The DSM-IV sub-criteria were plausibly distributed among clinically diagnosed dementia cases and controls. The clinician diagnoses agreed better with 10/66 dementia diagnosis than with the more conservative computerized DSM-IV algorithm. The DSM-IV algorithm was particularly likely to miss less severe dementia cases. Those with a 10/66 dementia diagnosis who did not meet the DSM-IV criterion were less cognitively and functionally impaired compared with the DSMIV confirmed cases, but still grossly impaired compared with those free of dementia. Conclusion The DSM-IV criterion, strictly applied, defines a narrow category of unambiguous dementia characterized by marked impairment. It may be specific but incompletely sensitive to clinically relevant cases. The 10/66 dementia diagnosis defines a broader category that may be more sensitive, identifying genuine cases beyond those defined by our DSM-IV algorithm, with relevance to the estimation of the population burden of this disorder. PMID:18577205

The effect of an educational intervention, based on clinical simulation, on the diagnosis of rheumatoid arthritis and osteoarthritis.

PubMed

Fernández-Ávila, Daniel G; Ruiz, Álvaro J; Gil, Fabián; Mora, Sergio A; Tobar, Carlos; Gutiérrez, Juan M; Rosselli, Diego

2018-03-01

The aim of the present study was to evaluate the effectiveness of an educational tool for general physicians, based on rheumatological clinical simulation, for the diagnosis of rheumatoid arthritis and osteoarthritis. A randomized clinical study was carried out, in which the physician research subjects were assigned to one of two groups: the experimental group (educational intervention for rheumatoid arthritis with clinical simulation) or the control group (educational intervention for the basic aspects of the diagnosis and treatment of osteoporosis). Four weeks after the educational intervention, the members of both groups completed an examination that included four clinical cases with real patients, two clinical cases with two clinical simulation models and six virtual clinical cases. In this examination, the participants noted clinical findings, established a diagnosis and defined the complementary tests they would request, if necessary, to corroborate their diagnosis. A total of 160 doctors participated (80 in the active educational intervention for rheumatoid arthritis and 80 in the control group), of whom 89 were women (56%). The mean age was 35 (standard deviation 7.7) years. Success was defined as a physician correctly diagnosing at least 10 of the 12 cases presented. A significant difference of 81.3% (95% confidence interval 72-90%; p < 0.001) in success was found in favour of the active group (88.8% versus 7.5%). A greater number of correct answers was found in the active group compared with the control group in the detection of clinical findings and in the number of complementary tests requested (p < 0.001). The study showed the effectiveness of an educational intervention based on clinical simulation to improve the diagnostic approach to rheumatoid arthritis and osteoarthritis. The results open a new horizon in the teaching of rheumatology. Copyright © 2017 John Wiley & Sons, Ltd.

Defining occult injuries of the distal forearm and wrist in children.

PubMed

Elvey, Michael; Patel, S; Avisar, Erez; White, W J; Sorene, E

2016-06-01

The nonspecific terms "wrist sprain" and "suspected occult bony injury" are frequently documented as diagnoses in occult paediatric wrist injuries. To date, however, no one has accurately defined their true underlying pathology. The primary objective of this study was to identify the true pathoanatomy of occult acute paediatric wrist injuries. Our secondary objective was to compare our findings with existing adult data in order to determine any population differences that might be clinically relevant. We performed a single-centre retrospective case series evaluating MRI findings in acute paediatric wrist injuries presenting to the hand injury unit between 2011 and 2014. All patients underwent standardised radiographs of the wrist and, where clinically indicated, of the scaphoid. Where no bony anomaly was identified, MRI scanning was offered. Cohen's kappa coefficient was used to calculate the agreement between clinical and MRI diagnosis. 57 patients met the final inclusion criteria. Occult fractures and bony contusions comprised the majority of the pathologies, at 36.5 and 35.0 %, respectively. There were no cases of isolated soft-tissue injury. MRI effected management change in 35.1 % of cases. Paediatric wrists demonstrated differences in injury pattern and distribution when compared to an adult population. This study defines for the first time the true pathology of occult paediatric wrist injuries. The current definition of a wrist sprain was not applicable to a single case and therefore appears to be inappropriate for use in the paediatric population. A precise knowledge of the likely pathology facilitates accurate information delivery whilst reducing parental uncertainty and treatment variation.

Melanoma in situ and syringoma: a rare collision tumor. Clinical-pathological report of a case*

PubMed Central

Umbert-Millet, Pablo; Quintana-Codina, Monica; Salleras-Redonnet, Montse

2017-01-01

Collision or contiguous tumors, defined as two or more distinct tumors occurring at one site, are often an unexpected finding and may represent a diagnostic challenge, as clinical and histological presentations do not always coincide. Various combinations of collision tumors have been described with respect to melanocytic lesions, with the most frequently reported being the combination of nevus and basal cell carcinoma. We present an unusual case on the nose involving a melanoma in situ and a clinically-inapparent syringoma, which, to the best of our knowledge, is the first report of this combination. PMID:29267461

Periodontal health and gingival diseases and conditions on an intact and a reduced periodontium: Consensus report of workgroup 1 of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions.

PubMed

Chapple, Iain L C; Mealey, Brian L; Van Dyke, Thomas E; Bartold, P Mark; Dommisch, Henrik; Eickholz, Peter; Geisinger, Maria L; Genco, Robert J; Glogauer, Michael; Goldstein, Moshe; Griffin, Terrence J; Holmstrup, Palle; Johnson, Georgia K; Kapila, Yvonne; Lang, Niklaus P; Meyle, Joerg; Murakami, Shinya; Plemons, Jacqueline; Romito, Giuseppe A; Shapira, Lior; Tatakis, Dimitris N; Teughels, Wim; Trombelli, Leonardo; Walter, Clemens; Wimmer, Gernot; Xenoudi, Pinelopi; Yoshie, Hiromasa

2018-06-01

Periodontal health is defined by absence of clinically detectable inflammation. There is a biological level of immune surveillance that is consistent with clinical gingival health and homeostasis. Clinical gingival health may be found in a periodontium that is intact, i.e. without clinical attachment loss or bone loss, and on a reduced periodontium in either a non-periodontitis patient (e.g. in patients with some form of gingival recession or following crown lengthening surgery) or in a patient with a history of periodontitis who is currently periodontally stable. Clinical gingival health can be restored following treatment of gingivitis and periodontitis. However, the treated and stable periodontitis patient with current gingival health remains at increased risk of recurrent periodontitis, and accordingly, must be closely monitored. Two broad categories of gingival diseases include non-dental plaque biofilm-induced gingival diseases and dental plaque-induced gingivitis. Non-dental plaque biofilm-induced gingival diseases include a variety of conditions that are not caused by plaque and usually do not resolve following plaque removal. Such lesions may be manifestations of a systemic condition or may be localized to the oral cavity. Dental plaque-induced gingivitis has a variety of clinical signs and symptoms, and both local predisposing factors and systemic modifying factors can affect its extent, severity, and progression. Dental plaque-induced gingivitis may arise on an intact periodontium or on a reduced periodontium in either a non-periodontitis patient or in a currently stable "periodontitis patient" i.e. successfully treated, in whom clinical inflammation has been eliminated (or substantially reduced). A periodontitis patient with gingival inflammation remains a periodontitis patient (Figure 1), and comprehensive risk assessment and management are imperative to ensure early prevention and/or treatment of recurrent/progressive periodontitis. Precision dental medicine defines a patient-centered approach to care, and therefore, creates differences in the way in which a "case" of gingival health or gingivitis is defined for clinical practice as opposed to epidemiologically in population prevalence surveys. Thus, case definitions of gingival health and gingivitis are presented for both purposes. While gingival health and gingivitis have many clinical features, case definitions are primarily predicated on presence or absence of bleeding on probing. Here we classify gingival health and gingival diseases/conditions, along with a summary table of diagnostic features for defining health and gingivitis in various clinical situations. © 2018 American Academy of Periodontology and European Federation of Periodontology.

Case study of evaluations that go beyond clinical outcomes to assess quality improvement diabetes programmes using the Diabetes Evaluation Framework for Innovative National Evaluations (DEFINE)

PubMed Central

Harris, Stewart B.; Naqshbandi Hayward, Mariam; Tompkins, Jordan W.

2016-01-01

Abstract Rationale, aims and objectives Investments in efforts to reduce the burden of diabetes on patients and health care are critical; however, more evaluation is needed to provide evidence that informs and supports future policies and programmes. The newly developed Diabetes Evaluation Framework for Innovative National Evaluations (DEFINE) incorporates the theoretical concepts needed to facilitate the capture of critical information to guide investments, policy and programmatic decision making. The aim of the study is to assess the applicability and value of DEFINE in comprehensive real‐world evaluation. Method Using a critical and positivist approach, this intrinsic and collective case study retrospectively examines two naturalistic evaluations to demonstrate how DEFINE could be used when conducting real‐world comprehensive evaluations in health care settings. Results The variability between the cases and the evaluation designs are described and aligned to the DEFINE goals, steps and sub‐steps. The majority of the theoretical steps of DEFINE were exemplified in both cases, although limited for knowledge translation efforts. Application of DEFINE to evaluate diverse programmes that target various chronic diseases is needed to further test the inclusivity and built‐in flexibility of DEFINE and its role in encouraging more comprehensive knowledge translation. Conclusions This case study shows how DEFINE could be used to structure or guide comprehensive evaluations of programmes and initiatives implemented in health care settings and support scale‐up of successful innovations. Future use of the framework will continue to strengthen its value in guiding programme evaluation and informing health policy to reduce the burden of diabetes and other chronic diseases. PMID:26804339

Number needed to benefit from information (NNBI): proposal from a mixed methods research study with practicing family physicians.

PubMed

Pluye, Pierre; Grad, Roland M; Johnson-Lafleur, Janique; Granikov, Vera; Shulha, Michael; Marlow, Bernard; Ricarte, Ivan Luiz Marques

2013-01-01

We wanted to describe family physicians' use of information from an electronic knowledge resource for answering clinical questions, and their perception of subsequent patient health outcomes; and to estimate the number needed to benefit from information (NNBI), defined as the number of patients for whom clinical information was retrieved for 1 to benefit. We undertook a mixed methods research study, combining quantitative longitudinal and qualitative research studies. Participants were 41 family physicians from primary care clinics across Canada. Physicians were given access to 1 electronic knowledge resource on handheld computer in 2008-2009. For the outcome assessment, participants rated their searches using a validated method. Rated searches were examined during interviews guided by log reports that included ratings. Cases were defined as clearly described searches where clinical information was used for a specific patient. For each case, interviewees described information-related patient health outcomes. For the mixed methods data analysis, quantitative and qualitative data were merged into clinical vignettes (each vignette describing a case). We then estimated the NNBI. In 715 of 1,193 searches for information conducted during an average of 86 days, the search objective was directly linked to a patient. Of those searches, 188 were considered to be cases. In 53 cases, participants associated the use of information with at least 1 patient health benefit. This finding suggested an NNBI of 14 (715/53). The NNBI may be used in further experimental research to compare electronic knowledge resources. A low NNBI can encourage clinicians to search for information more frequently. If all searches had benefits, the NNBI would be 1. In addition to patient benefits, learning and knowledge reinforcement outcomes are frequently reported.

Number Needed to Benefit From Information (NNBI): Proposal From a Mixed Methods Research Study With Practicing Family Physicians

PubMed Central

Pluye, Pierre; Grad, Roland M.; Johnson-Lafleur, Janique; Granikov, Vera; Shulha, Michael; Marlow, Bernard; Ricarte, Ivan Luiz Marques

2013-01-01

PURPOSE We wanted to describe family physicians’ use of information from an electronic knowledge resource for answering clinical questions, and their perception of subsequent patient health outcomes; and to estimate the number needed to benefit from information (NNBI), defined as the number of patients for whom clinical information was retrieved for 1 to benefit. METHODS We undertook a mixed methods research study, combining quantitative longitudinal and qualitative research studies. Participants were 41 family physicians from primary care clinics across Canada. Physicians were given access to 1 electronic knowledge resource on handheld computer in 2008–2009. For the outcome assessment, participants rated their searches using a validated method. Rated searches were examined during interviews guided by log reports that included ratings. Cases were defined as clearly described searches where clinical information was used for a specific patient. For each case, interviewees described information-related patient health outcomes. For the mixed methods data analysis, quantitative and qualitative data were merged into clinical vignettes (each vignette describing a case). We then estimated the NNBI. RESULTS In 715 of 1,193 searches for information conducted during an average of 86 days, the search objective was directly linked to a patient. Of those searches, 188 were considered to be cases. In 53 cases, participants associated the use of information with at least 1 patient health benefit. This finding suggested an NNBI of 14 (715/53). CONCLUSION The NNBI may be used in further experimental research to compare electronic knowledge resources. A low NNBI can encourage clinicians to search for information more frequently. If all searches had benefits, the NNBI would be 1. In addition to patient benefits, learning and knowledge reinforcement outcomes are frequently reported. PMID:24218380

Plasmapheresis in immune hematology: review of clinical outcome data with respect to evidence-based medicine and clinical experience.

PubMed

von Baeyer, Hans

2003-02-01

The objective of this paper is to assess the role of plasmapheresis in immune hematology by reviewing published clinical outcome data and narrative review articles. This information will be used to define evidence levels for appraisal of the efficacy and rank of plasmapheresis among other management options. This evidence-based strategy conforms to the concepts of the American Society of Hematology (ASH). as put forward in 1996 in the context of immune thrombocytopenia (ITP) treatment. The term 'experimental' is used to describe indications where the only scientific evidence of the efficacy of plasmapheresis consists of pathophysiological reasoning and empiric clinical findings. We reviewed the available literature on the use of plasmapheresis in autoimmune hemolytic anemia (AIHA), hemolytic disease of the newborn (HDN), autoimmune thrombocytopenic purpura (AITP), heparin-induced thrombocytopenia type II (HIT II), post-transfusion purpura (PTP), refractoriness to platelet transfusion (RPT), coagulation factor inhibitor (CFI) and catastrophic antiphospholipid syndrome (CAS). Plasmapheresis completes the spectrum of management options as it eliminates physically circulating free antibodies involved in the pathogenesis of these immune hematological syndromes. Because of the paucity of data, evidence levels had to be defined based on the findings of uncontrolled case series and the opinions of independent experts. In many cases, randomized clinical trials were not feasible because the syndromes are so rare. When defined as an 'experimental indication', plasmapheresis has a firm scientific basis, but larger scale clinical experience with the method is still lacking. In these cases, the detection and monitoring of symptomatic disease-related circulating free antibodies or immune complexes is a mandatory prerequisite for the use of plasmapheresis. The therapeutic benefit of plasmapheresis is substantiated by the level V of evidence of its efficacy in treatment of HDN, HIV-associated AITP, induction of tolerance in CFI and in CAS. The goal of future studies should be to establish a firmer base of scientific evidence for indications classified as experimental by setting up case series large enough for proper assessment of plasmapheresis alone or combination with other treatment measures. This goal can only be achieved through multiinstitutional cooperation.

Experimental application of Business Process Management technology to manage clinical pathways: a pediatric kidney transplantation follow up case.

PubMed

Andellini, Martina; Fernandez Riesgo, Sandra; Morolli, Federica; Ritrovato, Matteo; Cosoli, Piero; Petruzzellis, Silverio; Rosso, Nicola

2017-11-03

To test the application of Business Process Management technology to manage clinical pathways, using a pediatric kidney transplantation as case study, and to identify the benefits obtained from using this technology. Using a Business Process Management platform, we implemented a specific application to manage the clinical pathway of pediatric patients, and monitored the activities of the coordinator in charge of the case management during a 6-month period (from June 2015 to November 2015) using two methodologies: the traditional procedure and the one under study. The application helped physicians and nurses to optimize the amount of time and resources devoted to management purposes. In particular, time reduction was close to 60%. In addition, the reduction of data duplication, the integrated event management and the efficient data collection improved the quality of the service. The use of Business Process Management technology, usually related to well-defined processes with high management costs, is an established procedure in multiple environments; its use in healthcare, however, is innovative. The use of already accepted clinical pathways is known to improve outcomes. The combination of these two techniques, well established in their respective areas of application, could represent a revolution in clinical pathway management. The study has demonstrated that the use of this technology in a clinical environment, using a proper architecture and identifying a well-defined process, leads to real benefits in terms of resources optimization and quality improvement.

Emerging medical informatics with case-based reasoning for aiding clinical decision in multi-agent system.

PubMed

Shen, Ying; Colloc, Joël; Jacquet-Andrieu, Armelle; Lei, Kai

2015-08-01

This research aims to depict the methodological steps and tools about the combined operation of case-based reasoning (CBR) and multi-agent system (MAS) to expose the ontological application in the field of clinical decision support. The multi-agent architecture works for the consideration of the whole cycle of clinical decision-making adaptable to many medical aspects such as the diagnosis, prognosis, treatment, therapeutic monitoring of gastric cancer. In the multi-agent architecture, the ontological agent type employs the domain knowledge to ease the extraction of similar clinical cases and provide treatment suggestions to patients and physicians. Ontological agent is used for the extension of domain hierarchy and the interpretation of input requests. Case-based reasoning memorizes and restores experience data for solving similar problems, with the help of matching approach and defined interfaces of ontologies. A typical case is developed to illustrate the implementation of the knowledge acquisition and restitution of medical experts. Copyright © 2015 Elsevier Inc. All rights reserved.

Case Mis-Conceptualization in Psychological Treatment: An Enduring Clinical Problem.

PubMed

Ridley, Charles R; Jeffrey, Christina E; Roberson, Richard B

2017-04-01

Case conceptualization, an integral component of mental health treatment, aims to facilitate therapeutic gains by formulating a clear picture of a client's psychological presentation. However, despite numerous attempts to improve this clinical activity, it remains unclear how well existing methods achieve their purported purpose. Case formulation is inconsistently defined in the literature and implemented in practice, with many methods varying in complexity, theoretical grounding, and empirical support. In addition, many of the methods demand a precise clinical acumen that is easily influenced by judgmental and inferential errors. These errors occur regardless of clinicians' level of training or amount of clinical experience. Overall, the lack of a consensus definition, a diversity of methods, and susceptibility of clinicians to errors are manifestations of the state of crisis in case conceptualization. This article, the 2nd in a series of 5 on thematic mapping, argues the need for more reliable and valid models of case conceptualization. © 2017 Wiley Periodicals, Inc.

Towards Defining Adequate Lithium Trials for Individuals with Mental Retardation and Mental Illness.

ERIC Educational Resources Information Center

Pary, Robert J.

1991-01-01

Use of lithium with mentally retarded individuals with psychiatric conditions and/or behavior disturbances is discussed. The paper describes components of an adequate clinical trial and reviews case studies and double-blind cases. The paper concludes that aggression is the best indicator for lithium use, and reviews treatment parameters and…

WE-F-201-03: Evaluate Clinical Cases Using Commercially Available Systems and Compare to TG-43 Dosimetry

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

Beaulieu, L.

With the recent introduction of heterogeneity correction algorithms for brachytherapy, the AAPM community is still unclear on how to commission and implement these into clinical practice. The recently-published AAPM TG-186 report discusses important issues for clinical implementation of these algorithms. A charge of the AAPM-ESTRO-ABG Working Group on MBDCA in Brachytherapy (WGMBDCA) is the development of a set of well-defined test case plans, available as references in the software commissioning process to be performed by clinical end-users. In this practical medical physics course, specific examples on how to perform the commissioning process are presented, as well as descriptions of themore » clinical impact from recent literature reporting comparisons of TG-43 and heterogeneity-based dosimetry. Learning Objectives: Identify key clinical applications needing advanced dose calculation in brachytherapy. Review TG-186 and WGMBDCA guidelines, commission process, and dosimetry benchmarks. Evaluate clinical cases using commercially available systems and compare to TG-43 dosimetry.« less

A novel approach to generating CER hypotheses based on mining clinical data.

PubMed

Zhang, Shuo; Li, Lin; Yu, Yiqin; Sun, Xingzhi; Xu, Linhao; Zhao, Wei; Teng, Xiaofei; Pan, Yue

2013-01-01

Comparative effectiveness research (CER) is a scientific method of investigating the effectiveness of alternative intervention methods. In a CER study, clinical researchers typically start with a CER hypothesis, and aim to evaluate it by applying a series of medical statistical methods. Traditionally, the CER hypotheses are defined manually by clinical researchers. This makes the task of hypothesis generation very time-consuming and the quality of hypothesis heavily dependent on the researchers' skills. Recently, with more electronic medical data being collected, it is highly promising to apply the computerized method for discovering CER hypotheses from clinical data sets. In this poster, we proposes a novel approach to automatically generating CER hypotheses based on mining clinical data, and presents a case study showing that the approach can facilitate clinical researchers to identify potentially valuable hypotheses and eventually define high quality CER studies.

A COMBINED TREATMENT APPROACH EMPHASIZING IMPAIRMENT-BASED MANUAL THERAPY AND EXERCISE FOR HIP-RELATED COMPENSATORY INJURY IN ELITE ATHLETES: A CASE SERIES

PubMed Central

Short, Gretchen; Strack, Donald; Anloague, Philip; Brewster, Brian

2017-01-01

Background/Purpose: Athletes experiencing hip, groin, and low back pain often exhibit similar clinical characteristics. Individuals with hip, groin and low back pain may have the presence of multiple concurrent pathoanatomical diagnoses. Regardless, similar regional characteristics and dysfunction may contribute to the patient's chief complaint, potentially creating a sub-group of individuals that may be defined by lumbopelvic and hip mobility limitations, motor control impairments, and other shared clinical findings. The purpose of this case series is to describe the conservative management of elite athletes, within the identified aforementioned sub-group, that emphasized regional manual therapy interventions, and therapeutic exercise designed to improve lumbopelvic and hip mobility, stability and motor control. Case Descriptions: Five elite athletes were clinically diagnosed by a physical therapist with primary pathologies including adductor-related groin pain (ARGP), femoral acetabular impingement (FAI) with acetabular labral lesion and acute, mechanical low back pain (LBP). Similar subjective, objective findings and overall clinical profiles were identified among all subjects. Common findings aside from the chief complaint included, but were not limited to, decreased hip range of motion (ROM), impaired lumbopelvic motor control and strength, lumbar hypomobility in at least one segment, and a positive hip flexion-adduction-internal rotation (FADIR) special test. A three-phase impairment-based physical therapy program was implemented to resolve the primary complaints and return the subjects to their desired level of function. Acute phase rehabilitation consisted of manual therapy and fundamental motor control exercises. Progression to the sub-acute and terminal phases was based on improved subjective pain reports and progress with functional impairments. As the subjects progress through the rehabilitation phases, the delivery of physical therapy interventions were defined by decreased manual therapies and an increased emphasis and priority on graded exercise. Outcomes: Significant reductions in reported pain (>2 points Numeric Pain Rating Scale), improved reported function via functional outcome measures (Hip and Groin Outcome Score), and continued participation in sport occurred in all five cases without the need for surgical intervention. Discussion: The athletes described in this case series make up a common clinical sub-group defined by hip and lumbopelvic mobility restrictions, lumbopelvic and lower extremity motor control impairments and potentially other shared clinical findings. Despite differences in pathoanatomic findings, similar objective findings were identified and similar treatment plans were applied, potentially affecting the movement system as a whole. Subjects were conservatively managed allowing continued participation in sport within their competitive seasons. Conclusion: Comprehensive conservative treatment of the athletes with shared impairments, as described in this case series, may be of clinical importance when managing athletes with hip, groin, and low back pain. Level of Evidence: Therapy, Level 4, Case Series PMID:29158960

Automated Transformation of CDISC ODM to OpenClinica.

PubMed

Gessner, Sophia; Storck, Michael; Hegselmann, Stefan; Dugas, Martin; Soto-Rey, Iñaki

2017-01-01

Due to the increasing use of electronic data capture systems for clinical research, the interest in saving resources by automatically generating and reusing case report forms in clinical studies is growing. OpenClinica, an open-source electronic data capture system enables the reuse of metadata in its own Excel import template, hampering the reuse of metadata defined in other standard formats. One of these standard formats is the Operational Data Model for metadata, administrative and clinical data in clinical studies. This work suggests a mapping from Operational Data Model to OpenClinica and describes the implementation of a converter to automatically generate OpenClinica conform case report forms based upon metadata in the Operational Data Model.

Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances.

PubMed

Emy Dorfman, Luiza; Leite, Júlio César L; Giugliani, Roberto; Riegel, Mariluce

2015-01-01

To identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array-CGH) in DNA samples of neonates with congenital anomalies of unknown cause from a birth defects monitoring program at a public maternity hospital. A blind genomic analysis was performed retrospectively in 35 stored DNA samples of neonates born between July of 2011 and December of 2012. All potential DNA copy number variations detected (CNVs) were matched with those reported in public genomic databases, and their clinical significance was evaluated. Out of a total of 35 samples tested, 13 genomic imbalances were detected in 12/35 cases (34.3%). In 4/35 cases (11.4%), chromosomal imbalances could be defined as pathogenic; in 5/35 (14.3%) cases, DNA CNVs of uncertain clinical significance were identified; and in 4/35 cases (11.4%), normal variants were detected. Among the four cases with results considered causally related to the clinical findings, two of the four (50%) showed causative alterations already associated with well-defined microdeletion syndromes. In two of the four samples (50%), the chromosomal imbalances found, although predicted as pathogenic, had not been previously associated with recognized clinical entities. Array-CGH analysis allowed for a higher rate of detection of chromosomal anomalies, and this determination is especially valuable in neonates with congenital anomalies of unknown etiology, or in cases in which karyotype results cannot be obtained. Moreover, although the interpretation of the results must be refined, this method is a robust and precise tool that can be used in the first-line investigation of congenital anomalies, and should be considered for prospective/retrospective analyses of DNA samples by birth defect monitoring programs. Copyright © 2014 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

Clinical usefulness of reflectance confocal microscopy in the management of facial lentigo maligna melanoma.

PubMed

Alarcón, I; Carrera, C; Puig, S; Malvehy, J

2014-04-01

Facial lentigo maligna melanoma can be a diagnostic challenge in daily clinical practice as it has similar clinical and morphological features to other lesions such as solar lentigines and pigmented actinic keratoses. Confocal microscopy is a noninvasive technique that provides real-time images of the epidermis and superficial dermis with cellular-level resolution. We describe 3 cases of suspected facial lentigo maligna that were assessed using dermoscopy and confocal microscopy before histopathology study. In the first case, diagnosed as lentigo maligna melanoma, presurgical mapping by confocal microscopy was performed to define the margins more accurately. In the second and third cases, with a clinical and dermoscopic suspicion of lentigo maligna melanoma, confocal microscopy was used to identify the optimal site for biopsy. Copyright © 2012 Elsevier España, S.L. and AEDV. All rights reserved.

Decompression sickness in a vegetarian diver: are vegetarian divers at risk? A case report.

PubMed

van Hulst, Robert A; van der Kamp, Wim

2010-01-01

We present a case of a diver who suffered decompression sickness (DCS), but who also was a strict vegetarian for more than 10 years. He presented with symptoms of tingling of both feet and left hand, weakness in both legs and sensory deficits for vibration and propriocepsis after two deep dives with decompression. The initial clinical features of this case were most consistent with DCS, possibly because of a vulnerable spinal cord due to cobalamin deficiency neuropathy. This case illustrates the similarities between DCS and a clinically defined vitamin B12 deficiency. The pathophysiology of vitamin B12 deficiency and common pathology and symptoms of DCS are reviewed.

Effect of breast magnetic resonance imaging on the clinical management of breast cancer.

PubMed

Galinsky, Daliah; Kisselgoff, David; Sella, Tamar; Peretz, Tamar; Libson, Eugene; Sklair-Levy, Miri

2005-11-01

Mammography is the principal breast cancer imaging technique; however, sensitivity is reduced, especially in dense breast tissue. Magnetic resonance imaging is increasingly used in the detection and characterization of breast cancers. The high sensitivity (95-100%) of MRI is consistently observed, and in many situations, MRI is proving superior to classical forms of imaging. Assessment of its impact on management and outcome is vital if MRI is to become standard in the management of breast cancers. To establish the impact of breast MRI on women undergoing testing in our institution. We analyzed 82 cases that underwent MRI between January 2001 and April 2003. Analysis appraised the clinical impact of MRI testing in cases where medical summaries were available. Studies were categorized into five indications: a) screening in high risk women (n=7), b) search for primary disease in the presence of disease (n=5), c) monitoring of chemotherapy (n=2), d) postoperative assessment of tumor bed (n=9), and e) diagnostic/characterization of primary or recurrent breast cancer (n=59). Results were defined as negative, positive, or no impact on clinical management. MRI testing had a positive impact in 62 cases, affecting measurable change in 9 cases. Benefit was seen in screening, diagnosis and postoperative cases. In 15 cases, MRI stimulated investigations. MRI is a valuable tool in breast imaging and affects management. Further trials are necessary to clearly define the role of MRI and to ascertain whether in cases where beneficial impact on management is noted, there is ultimate impact on outcome.

Detection of skeletal muscle metastases on initial staging of lung cancer: a retrospective case series.

PubMed

Bocchino, Marialuisa; Valente, Tullio; Somma, Francesco; de Rosa, Ilaria; Bifulco, Marco; Rea, Gaetano

2014-03-01

Estimation of skeletal muscle metastases (SMMs) at the time of diagnosis and/or initial staging of lung cancer. Retrospective evaluation of clinical charts and imaging data suggestive of SMMs of patients with histology-proved lung cancer over a 5-year period. SMMs were identified in 46 out of 1,754 patients. Single and multiple (62.9% of cases) SMMs were detected by total body multi-detector computed tomography (MDCT). They were associated with poorly differentiated (43%) and advanced adenocarcinomas (52%) without clinically relevant symptoms and/or signs. Psoas and buttock muscles were most frequently involved (33.3%). MDCT findings consisted of well-defined homogeneously hyperdense oval masses (31%), lesions with ring-like enhancement and central hypoattenuation (68%), or large abscess-like necrotic lesions (24%). Sonography revealed well-defined hypoechoic masses (41.6%), ill-defined hypoechoic lesions (33.3%), or anechoic areas with a necrotic centre (25%). Positron emission tomography revealed that all SMMs were metabolically active. SMMs are uncommon but not negligible in lung cancer, with an estimated prevalence of 2.62% in our series. Although histology remains the recommended method, use of high-performance imaging techniques and increased clinical suspicion may improve their early detection. Efforts addressing their effect on the natural history of lung cancer are needed.

In which preterm labor-patients is intravenous maintenance tocolysis effective?

PubMed

Yoneda, Satoshi; Yoneda, Noriko; Fukuta, Kaori; Shima, Tomoko; Nakashima, Akitoshi; Shiozaki, Arihiro; Yoshino, Osamu; Kigawa, Mika; Yoshida, Taketoshi; Saito, Shigeru

2018-03-01

We evaluated whether maintenance tocolysis (intravenous ritodrine hydrochloride and/or magnesium sulfate) was effective in cases of spontaneous preterm labor with intact membranes. One hundred and thirty preterm labor patients who reached 36 weeks of gestation by maintenance tocolysis were selected. Immediate delivery (ID) after ceasing maintenance tocolysis was defined as an 'effective case'. The correlated factors between ID and no immediate delivery (NID) were statistically analyzed. Thirty-six patients delivered < two days after ceasing maintenance tocolysis (27.7%) and were defined as effective cases. Multiple logistic regression analysis revealed that amniotic fluid interleukin-8 at admission (≥ 2.3 ng/mL; odds ratio [OR] 5.6, 95% confidence interval [CI] 2.1-17.6; P < 0.001), pre-pregnancy body mass index (≤ 21.4; OR 5.3, 95% CI 2.0-16.2; P < 0.001) and cerclage (OR 3.6, 95% CI 1.1-11.8; P = 0.028) were independent factors correlated with ID (< 2 days). Maintenance tocolysis may be effective in limited cases with mild intra-amniotic inflammation, in lean women and in cerclage cases. Maintenance tocolysis should be ceased in cases without these clinical factors when clinical symptoms disappear. © 2017 Japan Society of Obstetrics and Gynecology.

Gathering Real World Evidence with Cluster Analysis for Clinical Decision Support.

PubMed

Xia, Eryu; Liu, Haifeng; Li, Jing; Mei, Jing; Li, Xuejun; Xu, Enliang; Li, Xiang; Hu, Gang; Xie, Guotong; Xu, Meilin

2017-01-01

Clinical decision support systems are information technology systems that assist clinical decision-making tasks, which have been shown to enhance clinical performance. Cluster analysis, which groups similar patients together, aims to separate patient cases into phenotypically heterogenous groups and defining therapeutically homogeneous patient subclasses. Useful as it is, the application of cluster analysis in clinical decision support systems is less reported. Here, we describe the usage of cluster analysis in clinical decision support systems, by first dividing patient cases into similar groups and then providing diagnosis or treatment suggestions based on the group profiles. This integration provides data for clinical decisions and compiles a wide range of clinical practices to inform the performance of individual clinicians. We also include an example usage of the system under the scenario of blood lipid management in type 2 diabetes. These efforts represent a step toward promoting patient-centered care and enabling precision medicine.

A concept analysis of forensic risk.

PubMed

Kettles, A M

2004-08-01

Forensic risk is a term used in relation to many forms of clinical practice, such as assessment, intervention and management. Rarely is the term defined in the literature and as a concept it is multifaceted. Concept analysis is a method for exploring and evaluating the meaning of words. It gives precise definitions, both theoretical and operational, for use in theory, clinical practice and research. A concept analysis provides a logical basis for defining terms through providing defining attributes, case examples (model, contrary, borderline, related), antecedents and consequences and the implications for nursing. Concept analysis helps us to refine and define a concept that derives from practice, research or theory. This paper will use the strategy of concept analysis to find a working definition for the concept of forensic risk. In conclusion, the historical background and literature are reviewed using concept analysis to bring the term into focus and to define it more clearly. Forensic risk is found to derive both from forensic practice and from risk theory. A proposed definition of forensic risk is given.

Spontaneous Spinal Epidural Hematoma Coexisting Guillan-Barré Syndrome in a Child: A Case Report

PubMed Central

Lee, Chi Hyung; Kim, Young Ha; Son, Dong Wuk; Lee, Sang Weon

2016-01-01

Spontaneous spinal epidural hematoma (SSEH) has been reported as a rare cause of spinal cord compression, especially in children. Clinical features are usually nonspecific, although cervicothoracic location of hematoma could be presented with progressive paraplegia. Guillian-Barré syndrome (GBS) is clinically defined as an acute peripheral neuropathy causing progressive limb weakness. Because SSEH and GBS have very similar signs and symptoms, SSEH could be misdiagnosed as GBS. Nevertheless, they can be presented together. We describe a rare case of SSEH coexisting with GBS. PMID:27800000

Spontaneous Spinal Epidural Hematoma Coexisting Guillan-Barré Syndrome in a Child: A Case Report.

PubMed

Lee, Chi Hyung; Song, Geun Sung; Kim, Young Ha; Son, Dong Wuk; Lee, Sang Weon

2016-09-01

Spontaneous spinal epidural hematoma (SSEH) has been reported as a rare cause of spinal cord compression, especially in children. Clinical features are usually nonspecific, although cervicothoracic location of hematoma could be presented with progressive paraplegia. Guillian-Barré syndrome (GBS) is clinically defined as an acute peripheral neuropathy causing progressive limb weakness. Because SSEH and GBS have very similar signs and symptoms, SSEH could be misdiagnosed as GBS. Nevertheless, they can be presented together. We describe a rare case of SSEH coexisting with GBS.

[Mitochondrial disease due to the deficit of Q-cytochrome C oxidoreductase coenzyme in the respiratory chain. Report of a new case].

PubMed

Roldán, S; Lluch, M D; Navarro Quesada, F J; Hevia, A

1995-01-01

Reference has been made in the literature of the variability in the clinical presentation of deficiency of complex III of the respiratory chain, identifying up to the moment, four groups, the first of which is characterized by hipotonia and wearness starting at variable ages. We report a new case of mitochondrial myopathy due to deficiency of this complex and included within this first group, and consider the importance of defining the clinical and histochemical characteristics of this polymorphous entity.

Sneddon syndrome: rare disease or under diagnosed clinical entity? Review of the literature related to a clinical case.

PubMed

Orac, Amalia; Artenie, Anca; Toader, Mihaela Paula; Harnagea, Raluca; Dinu-Mitrofan, Diana; Grigorovici, Mirela; Ungureanu, G

2014-01-01

Sneddon syndrome is defined by the association of livedo racemosa and recurrent cerebrovascular ischemic lesions. The annual incidence is 4/1,000,000. This syndrome particularly affects young women, some reports suggesting a family predisposition. It is a chronic, progressive, arterio-occlusive disease of unknown etiology that involves small and medium-sized arteries. It is usually associated with antiphospholipid antibodies. We report the case of a female patient with Sneddon syndrome with significant family history, personal history of stroke, epilepsy, migraine, cardiovascular involvement, three miscarriages, cognitive decline, noncompliant to therapy, in the absence of antiphospholipid antibodies. This paper aims to analyze the main characteristic features and management of Sneddon syndrome by conducting a literature review related to a clinical case.

Report of a new case and clinical delineation of mosaic trisomy 9 syndrome

PubMed Central

Sánchez, José María; Fijtman, Nora; Migliorini, Ana María

1982-01-01

A newborn girl with trisomy 9 mosaicism is reported. Clinical findings included major malformations: bilateral hip dislocation, dislocation of the left knee, extreme micrognathia, and microsomy. Up to date, 11 liveborn infants with trisomy 9 have been reported, which allows us to make a karyotype/phenotype correlation. Minimal clinical diagnostic criteria are defined, on the basis of which the presence of this syndrome can be suspected. Images PMID:7143394

Generalizing from clinical trial data: A case study. The risk of suicidality among pediatric antidepressant users

PubMed Central

Greenhouse, Joel B.; Kaizar, Eloise E.; Kelleher, Kelly; Seltman, Howard; Gardner, William

2010-01-01

Summary For the results of randomized controlled clinical trials (RCTs) and related meta-analyses to be useful in practice, they must be relevant to a definable group of patients in a particular clinical setting. To the extent this is so, we say that the trial is generalizable or externally valid. Although concern about the generalizability of the results of RCTs is often discussed, there are few examples of methods for assessing the generalizability of clinical trial data. In this paper, we describe and illustrate an approach for making what we call generalizability judgments and illustrate the approach in the context of a case study of the risk of suicidality among pediatric antidepressant users. PMID:18381709

A COMBINED TREATMENT APPROACH EMPHASIZING IMPAIRMENT-BASED MANUAL THERAPY AND EXERCISE FOR HIP-RELATED COMPENSATORY INJURY IN ELITE ATHLETES: A CASE SERIES.

PubMed

Short, Steve; Short, Gretchen; Strack, Donald; Anloague, Philip; Brewster, Brian

2017-11-01

Athletes experiencing hip, groin, and low back pain often exhibit similar clinical characteristics. Individuals with hip, groin and low back pain may have the presence of multiple concurrent pathoanatomical diagnoses. Regardless, similar regional characteristics and dysfunction may contribute to the patient's chief complaint, potentially creating a sub-group of individuals that may be defined by lumbopelvic and hip mobility limitations, motor control impairments, and other shared clinical findings. The purpose of this case series is to describe the conservative management of elite athletes, within the identified aforementioned sub-group, that emphasized regional manual therapy interventions, and therapeutic exercise designed to improve lumbopelvic and hip mobility, stability and motor control. Five elite athletes were clinically diagnosed by a physical therapist with primary pathologies including adductor-related groin pain (ARGP), femoral acetabular impingement (FAI) with acetabular labral lesion and acute, mechanical low back pain (LBP). Similar subjective, objective findings and overall clinical profiles were identified among all subjects. Common findings aside from the chief complaint included, but were not limited to, decreased hip range of motion (ROM), impaired lumbopelvic motor control and strength, lumbar hypomobility in at least one segment, and a positive hip flexion-adduction-internal rotation (FADIR) special test. A three-phase impairment-based physical therapy program was implemented to resolve the primary complaints and return the subjects to their desired level of function. Acute phase rehabilitation consisted of manual therapy and fundamental motor control exercises. Progression to the sub-acute and terminal phases was based on improved subjective pain reports and progress with functional impairments. As the subjects progress through the rehabilitation phases, the delivery of physical therapy interventions were defined by decreased manual therapies and an increased emphasis and priority on graded exercise. Significant reductions in reported pain (>2 points Numeric Pain Rating Scale), improved reported function via functional outcome measures (Hip and Groin Outcome Score), and continued participation in sport occurred in all five cases without the need for surgical intervention. The athletes described in this case series make up a common clinical sub-group defined by hip and lumbopelvic mobility restrictions, lumbopelvic and lower extremity motor control impairments and potentially other shared clinical findings. Despite differences in pathoanatomic findings, similar objective findings were identified and similar treatment plans were applied, potentially affecting the movement system as a whole. Subjects were conservatively managed allowing continued participation in sport within their competitive seasons. Comprehensive conservative treatment of the athletes with shared impairments, as described in this case series, may be of clinical importance when managing athletes with hip, groin, and low back pain. Therapy, Level 4, Case Series.

Bacterial keratitis: predisposing factors, clinical and microbiological review of 300 cases

PubMed Central

Bourcier, T; Thomas, F; Borderie, V; Chaumeil, C; Laroche, L

2003-01-01

Aim: To identify predisposing factors and to define clinical and microbiological characteristics of bacterial keratitis in current practice. Methods: A retrospective analysis of the hospital records of patients presenting with bacterial keratitis and treated at the Quinze-Vingts National Center of Ophthalmology, Paris, France, was performed during a 20 month period. A bacterial keratitis was defined as a suppurative corneal infiltrate and overlying epithelial defect associated with presence of bacteria on corneal scraping and/or that was cured with antibiotic therapy. Risk factors, clinical and microbiological data were collected. Results: 300 cases (291 patients) of presumed bacterial keratitis were included. Potential predisposing factors, usually multiple, were identified in 90.6% of cases. Contact lens wear was the main risk factor (50.3%). Trauma or a history of keratopathy was found in 15% and 21% of cases, respectively. An organism was identified in 201 eyes (68%). 83% of the infections involved Gram positive bacteria, 17% involved Gram negative bacteria, and 2% were polymicrobial. Gram negative bacteria were associated with severe anterior chamber inflammation (p=0.004), as well as greater surface of infiltrates (p=0.01). 99% of ulcers resolved with treatment, but only 60% of patients had visual acuity better than the level at admission, and 5% had very poor visual outcome. Conclusions: Contact lens wear is the most important risk factor. Most community acquired bacterial ulcers resolve with appropriate treatment. PMID:12812878

Endomyocardial fibrosis in Sudan: clinical and echocardiographic features

PubMed Central

Khalil, Siddiq Ibrahim; Khalil, Suha; El Tigani, Salma; Saad, Hanan A

2017-01-01

Summary Objective: Endomyocardial fibrosis (EMF) is a rare disease and is often an underdiagnosed and forgotten cardiomyopathy. The objective of this study was to document the current frequency of EMF in Sudan by defining and selecting cases from patients attending the echocardiography laboratory. Additionally we aimed to create an EMF registry for Sudan. Methods: The study started in January 2007 and is on-going. All the patients attending our echocardiography clinics in four different hospitals in Khartoum, Sudan, were included. Transthoracic echocardiography was used as the main diagnostic and selection tool. The diagnosis of EMF was based on predefined criteria and definitions, and was further supported by additional clinical, ECG, laboratory and chest X-ray findings. Results: Out of 4 332 cases studied, 23 (0.5%) were found to have features of EMF. Females constituted 52% and the age range was 24 to 67 years. All patients presented with dyspnoea grades III–IV. Advanced heart failure with gross fluid overload was seen in 54% of cases and ascites was seen in 30%. EMF was biventricular in 53%, left ventricular in 29% and right ventricular in 18% of cases. Apical and ventricular wall fibrosis was found in all cases, followed by atrial enlargement, atrioventricular valve incompetence, ventricular cavity obliteration, restrictive flow pattern and pericardial effusion. Additional echocardiographic features are defined and discussed. Conclusion: Although a rare disease, cases of EMF can be identified in Sudan if a high index of suspicion is observed. New echocardiographic features of ventricular wall layering, endocardial fibrous shelf and endomyocardiopericarial fibrosis were identified and are discussed. PMID:28906536

Defining robustness protocols: a method to include and evaluate robustness in clinical plans

NASA Astrophysics Data System (ADS)

McGowan, S. E.; Albertini, F.; Thomas, S. J.; Lomax, A. J.

2015-04-01

We aim to define a site-specific robustness protocol to be used during the clinical plan evaluation process. Plan robustness of 16 skull base IMPT plans to systematic range and random set-up errors have been retrospectively and systematically analysed. This was determined by calculating the error-bar dose distribution (ebDD) for all the plans and by defining some metrics used to define protocols aiding the plan assessment. Additionally, an example of how to clinically use the defined robustness database is given whereby a plan with sub-optimal brainstem robustness was identified. The advantage of using different beam arrangements to improve the plan robustness was analysed. Using the ebDD it was found range errors had a smaller effect on dose distribution than the corresponding set-up error in a single fraction, and that organs at risk were most robust to the range errors, whereas the target was more robust to set-up errors. A database was created to aid planners in terms of plan robustness aims in these volumes. This resulted in the definition of site-specific robustness protocols. The use of robustness constraints allowed for the identification of a specific patient that may have benefited from a treatment of greater individuality. A new beam arrangement showed to be preferential when balancing conformality and robustness for this case. The ebDD and error-bar volume histogram proved effective in analysing plan robustness. The process of retrospective analysis could be used to establish site-specific robustness planning protocols in proton therapy. These protocols allow the planner to determine plans that, although delivering a dosimetrically adequate dose distribution, have resulted in sub-optimal robustness to these uncertainties. For these cases the use of different beam start conditions may improve the plan robustness to set-up and range uncertainties.

Why we should understand the patient experience: clinical empathy and medicines optimisation.

PubMed

Jubraj, Barry; Barnett, Nina L; Grimes, Lesley; Varia, Sneha; Chater, Angel; Auyeung, Vivian

2016-10-01

To critically discuss the need for pharmacists to underpin their consultations with appropriate 'clinical empathy' as part of effective medicines optimisation. Use of literature around empathy, consultation and pharmacy practice to develop a case for greater clinical empathy in pharmacy consultations. Clinical empathy is defined from the literature and applied to pharmacy consultations, with a comparison to empathy in other clinical professions. Historical barriers to the embedding of clinical empathy into pharmacy consultations are also explored. We challenge the pharmacy profession to consider how clinical empathy should underpin consultations with a series of introspective questions and provide some sample questions to support pharmacy consultations. We also make the case for appropriate education and professional development of consultation skills at undergraduate and postgraduate level. We contend that patients' relationships with practitioners are critical, and a lack of empathy can impact the effectiveness of care. © 2016 Royal Pharmaceutical Society.

Outbreak of Chikungunya in the French Caribbean Islands of Martinique and Guadeloupe: Findings from a Hospital-Based Surveillance System (2013-2015).

PubMed

Dorléans, Frédérique; Hoen, Bruno; Najioullah, Fatiha; Herrmann-Storck, Cécile; Schepers, Kinda Maria; Abel, Sylvie; Lamaury, Isabelle; Fagour, Laurence; Césaire, Raymond; Guyomard, Stéphanie; Troudard, Ruth; Adélaïde, Yvette; Romagne, Marie-José; Davidas, Magguy; Rochais, Séverine; Boa, Sylvie; de Saint-Alary, Frédérique; Preira, Annabel; Saint-Martin, Patrick; Vaidie, Amandine; Melin, Mathilde; Daudens-Vaysse, Elise; Rosine, Jacques; Blateau, Alain; Carvalho, Luisiane; Septfons, Alexandra; Paty, Marie-Claire; Leduc, Ghislain; Cassadou, Sylvie; Ledrans, Martine; Cabié, André

2018-04-23

Chikungunya virus (CHIKV) emerged in the Caribbean island of Saint-Martin in December 2013. We implemented a hospital-based surveillance system to detect and describe CHIKV cases including severe forms of the infection and deaths in the islands of Martinique and Guadeloupe. A case was defined as a patient with a CHIKV laboratory confirmation cared for in a public hospital for chikungunya for at least 24 hours, and a severe CHIKV case was defined as a CHIKV case presenting one or more organ failures. Sociodemographic, clinical, and laboratory data were collected and cases classified into severe or nonsevere based on medical records. From December 2013 to January 2015, a total of 1,836 hospitalized cases were identified. Rate of hospital admissions for CHIKV infection was 60 per 10,000 suspected clinical CHIKV cases and severity accounted for 12 per 10,000. A total of 74 deaths related to CHIKV infection occurred. Infants and elderly people were more frequently hospitalized compared with others and severity was more frequently reported in elderly subjects and subjects with underlying health condition. Fifteen neonatal infections consecutive to mother-to-child transmission were diagnosed, seven of which were severe. The most vulnerable groups of the population, such as the elderly, infants, individuals with comorbidities, and pregnant women, should remain the main targets of public health priorities.

Building a semantic web-based metadata repository for facilitating detailed clinical modeling in cancer genome studies.

PubMed

Sharma, Deepak K; Solbrig, Harold R; Tao, Cui; Weng, Chunhua; Chute, Christopher G; Jiang, Guoqian

2017-06-05

Detailed Clinical Models (DCMs) have been regarded as the basis for retaining computable meaning when data are exchanged between heterogeneous computer systems. To better support clinical cancer data capturing and reporting, there is an emerging need to develop informatics solutions for standards-based clinical models in cancer study domains. The objective of the study is to develop and evaluate a cancer genome study metadata management system that serves as a key infrastructure in supporting clinical information modeling in cancer genome study domains. We leveraged a Semantic Web-based metadata repository enhanced with both ISO11179 metadata standard and Clinical Information Modeling Initiative (CIMI) Reference Model. We used the common data elements (CDEs) defined in The Cancer Genome Atlas (TCGA) data dictionary, and extracted the metadata of the CDEs using the NCI Cancer Data Standards Repository (caDSR) CDE dataset rendered in the Resource Description Framework (RDF). The ITEM/ITEM_GROUP pattern defined in the latest CIMI Reference Model is used to represent reusable model elements (mini-Archetypes). We produced a metadata repository with 38 clinical cancer genome study domains, comprising a rich collection of mini-Archetype pattern instances. We performed a case study of the domain "clinical pharmaceutical" in the TCGA data dictionary and demonstrated enriched data elements in the metadata repository are very useful in support of building detailed clinical models. Our informatics approach leveraging Semantic Web technologies provides an effective way to build a CIMI-compliant metadata repository that would facilitate the detailed clinical modeling to support use cases beyond TCGA in clinical cancer study domains.

Life histories in occupational therapy clinical practice.

PubMed

Frank, G

1996-04-01

This article defines and compares several narrative methods used to describe and interpret patients' lives. The biographical methods presented are case histories, life-charts, life histories, life stories, assisted autobiography, hermeneutic case reconstruction, therapeutic employment, volitional narratives, and occupational storytelling and story making. Emphasis is placed the clinician as a collaborator and interpreter of the patient's life through ongoing interactions and dialogue.

Multistate US Outbreak of Rapidly Growing Mycobacterial Infections Associated with Medical Tourism to the Dominican Republic, 2013–20141

PubMed Central

Esposito, Douglas H.; Gaines, Joanna; Ridpath, Alison; Barry, M. Anita; Feldman, Katherine A.; Mullins, Jocelyn; Burns, Rachel; Ahmad, Nina; Nyangoma, Edith N.; Nguyen, Duc B.; Perz, Joseph F.; Moulton-Meissner, Heather A.; Jensen, Bette J.; Lin, Ying; Posivak-Khouly, Leah; Jani, Nisha; Morgan, Oliver W.; Brunette, Gary W.; Pritchard, P. Scott; Greenbaum, Adena H.; Rhee, Susan M.; Blythe, David; Sotir, Mark

2016-01-01

During 2013, the Maryland Department of Health and Mental Hygiene in Baltimore, MD, USA, received report of 2 Maryland residents whose surgical sites were infected with rapidly growing mycobacteria after cosmetic procedures at a clinic (clinic A) in the Dominican Republic. A multistate investigation was initiated; a probable case was defined as a surgical site infection unresponsive to therapy in a patient who had undergone cosmetic surgery in the Dominican Republic. We identified 21 case-patients in 6 states who had surgery in 1 of 5 Dominican Republic clinics; 13 (62%) had surgery at clinic A. Isolates from 12 (92%) of those patients were culture-positive for Mycobacterium abscessus complex. Of 9 clinic A case-patients with available data, all required therapeutic surgical intervention, 8 (92%) were hospitalized, and 7 (78%) required ≥3 months of antibacterial drug therapy. Healthcare providers should consider infection with rapidly growing mycobacteria in patients who have surgical site infections unresponsive to standard treatment. PMID:27434822

Potential for Controlling Cholera Using a Ring Vaccination Strategy: Re-analysis of Data from a Cluster-Randomized Clinical Trial.

PubMed

Ali, Mohammad; Debes, Amanda K; Luquero, Francisco J; Kim, Deok Ryun; Park, Je Yeon; Digilio, Laura; Manna, Byomkesh; Kanungo, Suman; Dutta, Shanta; Sur, Dipika; Bhattacharya, Sujit K; Sack, David A

2016-09-01

Vaccinating a buffer of individuals around a case (ring vaccination) has the potential to target those who are at highest risk of infection, reducing the number of doses needed to control a disease. We explored the potential vaccine effectiveness (VE) of oral cholera vaccines (OCVs) for such a strategy. This analysis uses existing data from a cluster-randomized clinical trial in which OCV or placebo was given to 71,900 participants in Kolkata, India, from 27 July to 10 September 2006. Cholera surveillance was then conducted on 144,106 individuals living in the study area, including trial participants, for 5 y following vaccination. First, we explored the risk of cholera among contacts of cholera patients, and, second, we measured VE among individuals living within 25 m of cholera cases between 8 and 28 d after onset of the index case. For the first analysis, individuals living around each index case identified during the 5-y period were assembled using a ring to define cohorts of individuals exposed to cholera index cases. An index control without cholera was randomly selected for each index case from the same population, matched by age group, and individuals living around each index control were assembled using a ring to define cohorts not exposed to cholera cases. Cholera attack rates among the exposed and non-exposed cohorts were compared using different distances from the index case/control to define the rings and different time frames to define the period at risk. For the VE analysis, the exposed cohorts were further stratified according to the level of vaccine coverage into high and low coverage strata. Overall VE was assessed by comparing the attack rates between high and low vaccine coverage strata irrespective of individuals' vaccination status, and indirect VE was assessed by comparing the attack rates among unvaccinated members between high and low vaccine coverage strata. Cholera risk among the cohort exposed to cholera cases was 5-11 times higher than that among the cohort not exposed to cholera cases. The risk gradually diminished with an increase in distance and time. The overall and indirect VE measured between 8 and 28 d after exposure to a cholera index case during the first 2 y was 91% (95% CI 62%-98%) and 93% (95% CI 44%-99%), respectively. VE persisted for 5 y after vaccination and was similar whether the index case was a young child (<5 y) or was older. Of note, this study was a reanalysis of a cholera vaccine trial that used two doses; thus, a limitation of the study relates to the assumption that a single dose, if administered quickly, will induce a similar level of total and indirect protection over the short term as did two doses. These findings suggest that high-level protection can be achieved if individuals living close to cholera cases are living in a high coverage ring. Since this was an observational study including participants who had received two doses of vaccine (or placebo) in the clinical trial, further studies are needed to determine whether a ring vaccination strategy, in which vaccine is given quickly to those living close to a case, is feasible and effective. ClinicalTrials.gov NCT00289224.

Potential for Controlling Cholera Using a Ring Vaccination Strategy: Re-analysis of Data from a Cluster-Randomized Clinical Trial

PubMed Central

Ali, Mohammad; Luquero, Francisco J.; Kim, Deok Ryun; Park, Je Yeon; Digilio, Laura; Manna, Byomkesh; Kanungo, Suman; Dutta, Shanta; Sur, Dipika; Bhattacharya, Sujit K.

2016-01-01

Introduction Vaccinating a buffer of individuals around a case (ring vaccination) has the potential to target those who are at highest risk of infection, reducing the number of doses needed to control a disease. We explored the potential vaccine effectiveness (VE) of oral cholera vaccines (OCVs) for such a strategy. Methods and Findings This analysis uses existing data from a cluster-randomized clinical trial in which OCV or placebo was given to 71,900 participants in Kolkata, India, from 27 July to 10 September 2006. Cholera surveillance was then conducted on 144,106 individuals living in the study area, including trial participants, for 5 y following vaccination. First, we explored the risk of cholera among contacts of cholera patients, and, second, we measured VE among individuals living within 25 m of cholera cases between 8 and 28 d after onset of the index case. For the first analysis, individuals living around each index case identified during the 5-y period were assembled using a ring to define cohorts of individuals exposed to cholera index cases. An index control without cholera was randomly selected for each index case from the same population, matched by age group, and individuals living around each index control were assembled using a ring to define cohorts not exposed to cholera cases. Cholera attack rates among the exposed and non-exposed cohorts were compared using different distances from the index case/control to define the rings and different time frames to define the period at risk. For the VE analysis, the exposed cohorts were further stratified according to the level of vaccine coverage into high and low coverage strata. Overall VE was assessed by comparing the attack rates between high and low vaccine coverage strata irrespective of individuals’ vaccination status, and indirect VE was assessed by comparing the attack rates among unvaccinated members between high and low vaccine coverage strata. Cholera risk among the cohort exposed to cholera cases was 5–11 times higher than that among the cohort not exposed to cholera cases. The risk gradually diminished with an increase in distance and time. The overall and indirect VE measured between 8 and 28 d after exposure to a cholera index case during the first 2 y was 91% (95% CI 62%–98%) and 93% (95% CI 44%–99%), respectively. VE persisted for 5 y after vaccination and was similar whether the index case was a young child (<5 y) or was older. Of note, this study was a reanalysis of a cholera vaccine trial that used two doses; thus, a limitation of the study relates to the assumption that a single dose, if administered quickly, will induce a similar level of total and indirect protection over the short term as did two doses. Conclusions These findings suggest that high-level protection can be achieved if individuals living close to cholera cases are living in a high coverage ring. Since this was an observational study including participants who had received two doses of vaccine (or placebo) in the clinical trial, further studies are needed to determine whether a ring vaccination strategy, in which vaccine is given quickly to those living close to a case, is feasible and effective. Trial registration ClinicalTrials.gov NCT00289224 PMID:27622507

Cost-benefit value of microscopic examination of intervertebral discs.

PubMed

Grzybicki, D M; Callaghan, E J; Raab, S S

1998-09-01

Given the virtual absence of histologically detected, clinically unsuspected disease in intervertebral disc specimens, some authors have advocated that histological examination be discontinued. However, the examination of intervertebral disc specimens remains common practice in most pathology laboratories. No cost-benefit analysis of this practice has been made; therefore, the authors' goal in this study was perform such an analysis. Using the University of Iowa surgical pathology database, 1109 patients who had undergone a laminectomy were identified retrospectively. These cases were classified into four categories based on the patients' preoperative clinical diagnosis and final histopathological diagnosis: insignificant clinical diagnosis/insignificant pathological diagnosis (ICIP), significant clinical diagnosis/insignificant pathological diagnosis (SCIP), significant clinical diagnosis/significant pathological diagnosis (SCSP), and insignificant clinical diagnosis/significant pathological diagnosis (ICSP). A significant clinical diagnosis was defined as one other than a benign, noninfectious indication for laminectomy. A significant pathological diagnosis was a diagnosis other than degenerative changes. The cost-benefit value of performing a histological examination in cases with significant or insignificant clinical diagnoses was examined. The cases were classified as: 1068 ICIP, 17 SCIP, 21 SCSP, and three ICSP. On chart review, in all three cases of ICSP an epidural abscess was identified perioperatively and the subsequent histological diagnosis did not affect patient care. The costs per case of identifying a significant pathological diagnosis with a significant and an insignificant clinical diagnosis were $44.79 and $8811, respectively. Histological examination of intervertebral disc specimens is cost beneficial only if there is a significant preoperative clinical diagnosis.

Cauda equina syndrome complicating ankylosing spondylitis: use of electromyography and computerised tomography in diagnosis.

PubMed

Young, A; Dixon, A; Getty, J; Renton, P; Vacher, H

1981-06-01

A case of the cauda equina syndrome complicating ankylosing spondylitis (AS) is described. An unusual feature of this case was the relapsing and remitting nature of the condition, but there is sufficient evidence to explain the clinical picture on the basis of a recurrent intraspinal inflammatory process. The clinical and radiological features are similar to those of a further 28 reported in the literature. An electromyogram (EMG) proved important in defining the extent of neurological involvement. Computerised tomography (CT) showed marked laminar erosion and no bony exit foramen encroachment. We believe that the clinical diagnosis of this condition can be adequately confirmed with plain radiology, EMG, and CT scan.

Overview of clinical research design.

PubMed

Hartung, Daniel M; Touchette, Daniel

2009-02-15

Basic concepts and terminology of clinical research design are presented for new clinical investigators. Clinical research, research involving human subjects, can be described as either observational or experimental. The findings of all clinical research can be threatened by issues of bias and confounding. Biases are systematic errors in how study subjects are selected or measured, which result in false inferences. Confounding is a distortion in findings that is attributable to mixing variable effects. Uncontrolled observation research is generally more prone to bias and confounding than experimental research. Observational research includes designs such as the cohort study, case-control study, and cross-sectional study, while experimental research typically involves a randomized controlled trial (RCT). The cohort study, which includes the RCT, defines subject allocation on the basis of exposure interest (e.g., drug, disease-management program) and follows the patients to assess the outcomes. The case-control study uses the primary outcome of interest (e.g., adverse event) to define subject allocation, and different exposures are assessed in a retrospective manner. Cross-sectional research evaluates both exposure and outcome concurrently. Each of these design methods possesses different strengths and weaknesses in answering research questions, as well as underlying many study subtypes. While experimental research is the strongest method for establishing causality, it can be difficult to accomplish under many scenarios. Observational clinical research offers many design alternatives that may be appropriate if planned and executed carefully.

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

PubMed

Popp, Bernt; Trollmann, Regina; Büttner, Christian; Caliebe, Almuth; Thiel, Christian T; Hüffmeier, Ulrike; Reis, André; Zweier, Christiane

2016-10-01

Williams-Beuren syndrome (WBS) is a relatively common, clinically recognizable microdeletion syndrome. In most cases the typical heterozygous deletion of 1.5 Mb on chromosome 7q11.23 spanning about 26 genes can be identified. Also some larger or smaller atypical deletions have been reported and associated with additional or atypical phenotypic aspects. We report on an individual with typical WBS due to the common deletion and with refractory infantile spasms. Using trio-exome sequencing, we identified a de novo truncating variant c.1200del, p (Lys401Serfs*25) in GABRA1 as the likely cause of the early onset epilepsy. This unique case not only allows to further define the phenotypic spectrum of infantile epileptic encephalopathy associated with rare de novo GABRA1 variants but exemplifies the need for a sensitive review of unclear associations in clinically defined syndromes and for extended diagnostic work-up in individuals with unusual presentations of a genetically confirmed diagnosis. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

The co-occurrence of Hashimoto thyroiditis in primary Sjogren's syndrome defines a subset of patients with milder clinical phenotype.

PubMed

Caramaschi, Paola; Biasi, Domenico; Caimmi, Cristian; Scambi, Cinzia; Pieropan, Sara; Barausse, Giovanni; Adami, Silvano

2013-05-01

To evaluate in a cohort of 100 consecutive patients affected by primary Sjogren's syndrome (pSS) the incidence of Hashimoto thyroiditis (HT) and to compare the clinical features and the laboratory parameters of patients affected by pSS with and without concomitant HT. In 100 consecutive patients affected by pSS, the occurrence of other autoimmune diseases was recorded and a full examination of thyroid function obtained. HT was associated with pSS in 27 cases. The comparison between pSS cases with and without HT showed that only patients with isolated pSS had low C4 level [p = 0.032, OR (IC 95 %) 230 (13.13-4,046)]. In addition, only patients affected by pSS without HT had evidence of cryoglobulins, cutaneous vasculitis with palpable purpura, peripheral neuropathy, and development of lymphoma, although all these manifestations were observed in a 4.1-8.2 % of the cases, without reaching statistical significance. The association of HT in patients suffering from pSS defines a subset of patients with milder disease and normal C4 levels.

[Patient-related complexity in nursing care - Collective case studies in the acute care hospital].

PubMed

Gurtner, Caroline; Spirig, Rebecca; Staudacher, Diana; Huber, Evelyn

2018-06-04

Patient-related complexity in nursing care - Collective case studies in the acute care hospital Abstract. Patient-related complexity of nursing is defined by the three characteristics "instability", "uncertainty", and "variability". Complexity increased in the past years, due to reduced hospital length of stay and a growing number of patients with chronic and multiple diseases. We investigated the phenomenon of patient-related complexity from the point of view of nurses and clinical nurse specialists in an acute care hospital. In the context of a collective case study design, nurses and clinical nurse specialists assessed the complexity of nursing situations with a questionnaire. Subsequently, we interviewed nurses and clinical nurse specialists about their evaluation of patient-related complexity. In a within-case-analysis we summarized data inductively to create case narratives. By means of a cross-case-analysis we compared the cases with regard to deductively derived characteristics. The four cases exemplarily showed that the degree of complexity depends on the controllability and predictability of clinical problems. Additionally, complexity increases or decreases, according to patients' individual resources. Complex patient situations demand professional expertise, experience, communicative competencies and the ability for reflection. Beginner nurses would benefit from support and advice by experienced nurses to develop these skills.

[Listeriosis in Mexico: Clinical and epidemiological importance].

PubMed

Castañeda-Ruelas, Gloria; Eslava-Campos, Carlos; Castro-Del Campo, Nohelia; León-Félix, Josefina; Chaidez-Quiroz, Cristóbal

2014-01-01

Listeriosis is caused by Listeria monocytogenes, an important food-borne disease due to its clinical forms, high mortality rate, and the economic impact in both clinical and food production industries. In Mexico, the lack of epidemiological surveillance systems leads to the need of accurate data on the incidence of listeriosis and its association with food-borne disease. In this paper, we present data about the presence of this bacterium in food, reports related to clinical cases of listeriosis, and information of diseases in which L. monocytogenes may be involved. However, in most of these cases the etiology was not established. Given this, there's a need to inform and warn the appropriate entities, to define strategies for the mandatory search of L. monocytogenes through the whole food production chain and clinical suspects, for the epidemiological importance and control of listeriosis in Mexico.

The California Clinical Data Project: a case study in the adoption of clinical data standards for quality improvement.

PubMed

Sujansky, Walter; Chang, Sophia

2006-01-01

The California Clinical Data Project is a statewide initiative to remove barriers to the widespread and effective use of information technology to improve chronic disease care. The project is a case study in the development and widespread adoption of clinical data standards by varied and often competing stakeholders. As an initial step, the project defined precise data standards for the batch reporting of pharmacy claims data and laboratory results data. These uniform standards facilitate the flow of existing electronic clinical information into disease registries and electronic health record systems. Pharmacy and lab results data now are being exchanged electronically with this standard among the largest health plans, medical groups, and clinical laboratories participating in California's pay-for-performance programs. Lessons from this project may apply to the development and adoption of data standards for other states and locales and for the emerging national health information infrastructure.

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

Rivard, M.

With the recent introduction of heterogeneity correction algorithms for brachytherapy, the AAPM community is still unclear on how to commission and implement these into clinical practice. The recently-published AAPM TG-186 report discusses important issues for clinical implementation of these algorithms. A charge of the AAPM-ESTRO-ABG Working Group on MBDCA in Brachytherapy (WGMBDCA) is the development of a set of well-defined test case plans, available as references in the software commissioning process to be performed by clinical end-users. In this practical medical physics course, specific examples on how to perform the commissioning process are presented, as well as descriptions of themore » clinical impact from recent literature reporting comparisons of TG-43 and heterogeneity-based dosimetry. Learning Objectives: Identify key clinical applications needing advanced dose calculation in brachytherapy. Review TG-186 and WGMBDCA guidelines, commission process, and dosimetry benchmarks. Evaluate clinical cases using commercially available systems and compare to TG-43 dosimetry.« less

Adult-onset Rasmussen encephalitis associated with focal cortical dysplasia.

PubMed

Hohenbichler, Katharina; Lelotte, Julie; Lhommel, Renaud; Tahry, Riëm El; Vrielynck, Pascal; Santos, Susana Ferrao

2017-12-01

Rasmussen encephalitis is a rare, devastating condition, typically presenting in childhood. Cases of adult-onset Rasmussen have also been described, but the clinical picture is less defined, rendering final diagnosis difficult. We present a case of adult-onset Rasmussen encephalitis with dual pathology, associated with focal cortical dysplasia and encephalitis. We interpreted the Rasmussen encephalitis to be caused by severe and continuous epileptic activity due to focal cortical dysplasia. The best therapeutic approach for such cases remains unclear.

Atypical clinical appearance of eosinophilic pustular folliculitis of seborrheic areas of the face.

PubMed

Matsumura, Yumi; Miyachi, Yoshiki

2012-01-01

Eosinophilic pustular folliculitis is a pruritic eruption that preferentially involves the face. It is characterized by well-demarcated erythema, extending peripherally with a central clearing and pigmentation, together with sterile pustules lining the periphery. We describe five cases of eosinophilic pustular folliculitis with pruritic papules and erythema on seborrheic areas of the face, which lacked the typical features of classic eosinophilic pustular folliculitis--pustules and peripheral extension--but showed eosinophilic infiltration of the hair follicles, histologically. The eruption quickly responded to oral indomethacin except for one case that responded to tranilast and one case that was associated with acquired immunodeficiency syndrome, with recurrences in defined areas of the face. Our findings in these cases suggest that eosinophilic pustular folliculitis may vary in clinical appearance.

[Usefulness of clinical prediction rules for ruling out deep vein thrombosis in a hospital emergency department].

PubMed

Rosa-Jiménez, Francisco; Rosa-Jiménez, Ascensión; Lozano-Rodríguez, Aquiles; Santoro-Martínez, María Del Carmen; Duro-López, María Del Carmen; Carreras-Álvarez de Cienfuegos, Amelia

2015-01-01

To compare the efficacy of the most familiar clinical prediction rules in combination with D-dimer testing to rule out a diagnosis of deep vein thrombosis (DVT) in a hospital emergency department. Retrospective cross-sectional analysis of the case records of all patients attending a hospital emergency department with suspected lower-limb DVT between 1998 and 2002. Ten clinical prediction scores were calculated and D-dimer levels were available for all patients. The gold standard was ultrasound diagnosis of DVT by an independent radiologist who was blinded to clinical records. For each prediction rule, we analyzed the effectiveness of the prediction strategy defined by "low clinical probability and negative D-dimer level" against the ultrasound diagnosis. A total of 861 case records were reviewed and 577 cases were selected; the mean (SD) age was 66.7 (14.2) years. DVT was diagnosed in 145 patients (25.1%). Only the Wells clinical prediction rule and 4 other models had a false negative rate under 2%. The Wells criteria and the score published by Johanning and colleagues identified higher percentages of cases (15.6% and 11.6%, respectively). This study shows that several clinical prediction rules can be safely used in the emergency department, although none of them have proven more effective than the Wells criteria.

[Kounis syndrome: a paradoxal non-ST elevation myocardial infarction case after triamcinolone treatment for dermatitis].

PubMed

Yılmaz, Mücahid; Korkmaz, Hasan

2018-04-01

Kounis syndrome is defined as the clinical development of acute coronary syndrome caused by the activation of inflammatory cells due to an allergy, hypersensitivity, anaphylaxis, or anaphylactic reaction. Corticosteroids that are used in the treatment of many inflammatory conditions may paradoxically cause allergic reactions and even anaphylaxis. This article is a description of the case of a 52-yearold female patient who had a non-ST elevation myocardial infarction after the administration of triamcinolone that was relieved with antihistaminic treatment. The patient had been diagnosed with dermatitis at another medical center and injected with 40 mg/mL (intramuscular [IM]) of triamcinolone acetonide and developed chest pain 15 minutes after the first dose. Despite a normal physical examination and echocardiogram, laboratory tests revealed troponin positivity and an inferolateral ST depression was present on an electrocardiogram (ECG). The ECG findings and clinical symptoms resolved completely after conservative anti-ischemic treatment and antihistaminic therapy (pheniramine maleate 45.5 mg/2 mL, Avil ampoule, IV; Sanofi-Aventis, Paris, France) and coronary angiography evaluation of the arteries was normal. The heart, and in particular the coronary arteries, are among the organs that are most damaged during hypersensitivity reactions and anaphylaxis. Although Kounis syndrome is not a rare condition, few cases have been reported in clinical practice. The failure to recognize Kounis syndrome due to inadequately defined cases may lead to unwanted medical results. Kounis syndrome should be kept in mind in order to make a rapid and accurate diagnosis.

Blastic marginal zone lymphoma: a clinical and pathological study of 8 cases and review of the literature.

PubMed

Magro, Cynthia M; Yang, Amy; Fraga, Garth

2013-05-01

Blastic transformation (BT) of marginal zone lymphoma or mucosa-associated lymphoid tissue lymphoma has been mainly reported in the spleen and stomach. Primary cutaneous marginal zone lymphoma that undergoes BT is rare and not well documented. We describe 8 patients with blastic primary cutaneous marginal zone lymphoma and compare the clinical, pathologic, and molecular findings of these patients with 10 cases previously reported in the literature. The cases of blastic marginal zone lymphoma could be categorized into cases of de novo blastic marginal zone lymphoma and large-cell transformation arising in a background of a history of biopsy proven marginal zone lymphoma. The cases of de novo blastic marginal zone lymphoma occurred in elderly patients without any medical history. In each of the cases, the lesions were radiated, not treated, or treated with complete excision without any death due to lymphoma nor was there any evidence of extracutaneous dissemination. Large-cell transformation arising in background of marginal zone lymphoma typically occurred in patients who were younger; 2 of the 4 cases were immunocompromised. The clinical course in each of the cases was aggressive with 3 of the 4 patients succumbing to disseminated disease while 1 patient developed extracutaneous nodal disease. Phenotypically, there was an expression of CD5 in a total of 3 of the 8 cases and CD23 in 3 of the 8 cases. Commonality of B-cell clones was demonstrated in 2 cases where biopsies were available of both the less aggressive appearing marginal zone lymphoma and the transformed biopsies. Cytogenetic abnormalities associated with BT included a deletion of chromosome 7q in all cases tested. Large-cell transformation arising in a patient with a history of marginal zone lymphoma portends a worse prognosis, including death from disseminated disease, whereas a de novo presentation of blastic marginal zone lymphoma may define a clinical course similar to other forms of low-grade cutaneous B-cell lymphoma. The expression of CD5 and CD23 may define a phenotypic profile associated with BT. It is possible that marginal zone lymphomas associated with CD5 and CD23 positivity should be followed more closely and/or treated with radiation and/or complete excision.

Clinical diagnosis of syphilis: a ten-year retrospective analysis in a South Australian urban sexual health clinic.

PubMed

Forrest, C E; Ward, A

2016-12-01

National notifications for infectious syphilis in Australia have increased in recent years. Outside of sexual health clinics, junior clinicians seldom encounter this disease in its infectious stage (primary, secondary and early latent). With such a variable clinical presentation, textbook teaching is no substitute for real-life experience. The importance of accurate classification and staging of disease is relevant to the risk of transmission and determines treatment duration. In this article, the authors review the clinical presentation of syphilis over ten years in an urban sexual health clinic with a focus on the clinical presentation and diagnosis of infectious syphilis, in particular secondary syphilis, compared with that outlined in the Australian National Notifiable Diseases Surveillance System guidelines. This retrospective review of all patients diagnosed with syphilis at an urban sexual health clinic showed that between 2005 and 2015, 226 cases of syphilis were diagnosed. Documentation of impression of clinical staging of disease was present in 46% of the cases. Seventeen of these cases were recorded as secondary syphilis. The criteria used by clinicians to diagnose the secondary syphilis cases were consistent with criteria defined by the Australian National Notifiable Diseases Surveillance System. All cases of secondary syphilis had at least one cutaneous manifestation of disease. The demographic of the cohort of syphilis cases was consistent with that recorded in the literature. This review showed that the clinician's diagnosis of secondary syphilis in this service is consistent with the National Notifiable Diseases Surveillance System guidelines. Continuing education of junior medical staff is important to facilitate diagnosis and improve documentation of clinical staging, minimise disease transmission and ensure appropriate treatment. © The Author(s) 2016.

Revised surveillance case definition for HIV infection--United States, 2014.

PubMed

2014-04-11

Following extensive consultation and peer review, CDC and the Council of State and Territorial Epidemiologists have revised and combined the surveillance case definitions for human immunodeficiency virus (HIV) infection into a single case definition for persons of all ages (i.e., adults and adolescents aged ≥13 years and children aged <13 years). The revisions were made to address multiple issues, the most important of which was the need to adapt to recent changes in diagnostic criteria. Laboratory criteria for defining a confirmed case now accommodate new multitest algorithms, including criteria for differentiating between HIV-1 and HIV-2 infection and for recognizing early HIV infection. A confirmed case can be classified in one of five HIV infection stages (0, 1, 2, 3, or unknown); early infection, recognized by a negative HIV test within 6 months of HIV diagnosis, is classified as stage 0, and acquired immunodeficiency syndrome (AIDS) is classified as stage 3. Criteria for stage 3 have been simplified by eliminating the need to differentiate between definitive and presumptive diagnoses of opportunistic illnesses. Clinical (nonlaboratory) criteria for defining a case for surveillance purposes have been made more practical by eliminating the requirement for information about laboratory tests. The surveillance case definition is intended primarily for monitoring the HIV infection burden and planning for prevention and care on a population level, not as a basis for clinical decisions for individual patients. CDC and the Council of State and Territorial Epidemiologists recommend that all states and territories conduct case surveillance of HIV infection using this revised surveillance case definition.

Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases.

PubMed

Bueno, Anibal; Rodríguez-López, Rocío; Reyes-Palomares, Armando; Rojano, Elena; Corpas, Manuel; Nevado, Julián; Lapunzina, Pablo; Sánchez-Jiménez, Francisca; Ranea, Juan A G

2018-06-26

Copy number variations (CNVs) are genomic structural variations (deletions, duplications, or translocations) that represent the 4.8-9.5% of human genome variation in healthy individuals. In some cases, CNVs can also lead to disease, being the etiology of many known rare genetic/genomic disorders. Despite the last advances in genomic sequencing and diagnosis, the pathological effects of many rare genetic variations remain unresolved, largely due to the low number of patients available for these cases, making it difficult to identify consistent patterns of genotype-phenotype relationships. We aimed to improve the identification of statistically consistent genotype-phenotype relationships by integrating all the genetic and clinical data of thousands of patients with rare genomic disorders (obtained from the DECIPHER database) into a phenotype-patient-genotype tripartite network. Then we assessed how our network approach could help in the characterization and diagnosis of novel cases in clinical genetics. The systematic approach implemented in this work is able to better define the relationships between phenotypes and specific loci, by exploiting large-scale association networks of phenotypes and genotypes in thousands of rare disease patients. The application of the described methodology facilitated the diagnosis of novel clinical cases, ranking phenotypes by locus specificity and reporting putative new clinical features that may suggest additional clinical follow-ups. In this work, the proof of concept developed over a set of novel clinical cases demonstrates that this network-based methodology might help improve the precision of patient clinical records and the characterization of rare syndromes.

Low accuracy of the national reporting system of acute hepatitis C infection in Taiwan, 1995-2004.

PubMed

Kee, Kwong-Ming; Hung, Chi-Ming; Wang, Jing-Houng; Hung, Chao-Hung; Chen, Pao-Fei; Lin, Kuo-Sin; Lu, Sheng-Nan

2010-07-01

This study attempted to clarify accuracy of acute hepatitis C (AHC) and its clinical characteristics. We reviewed 632 reported cases from national surveillance data of the Taiwan Center for Disease Control between 1995 and 2004, and reclassified diagnoses. A definite case was defined as alanine aminotransferase (ALT) > 10 x the upper limit of normal (ULN) with seroconversion of anti-hepatitis C virus antibody (anti-HCV). A probable case was defined as (i) seroconversion of anti-HCV and/or elevated ALT levels; or (ii) anti-HCV(+) but titers increased (from < 40 S/CO to >or= 40 S/CO) and ALT > 10 x the ULN. A suspected case was defined as initial anti-HCV(+) and ALT level > 10 x the ULN and/or jaundice. Excluded cases were defined as ALT levels less than 10 x ULN with initial positive anti-HCV Ab. A total of 310 (49%) cases were confirmed as AHC; these included 95 (15%) definite and 215 (34%) probable cases. Higher incidence rates and accuracy of AHC were demonstrated in the southern area significantly if compared with northern, eastern and central areas, respectively (all P < 0.05). On comparison between blood centers and hospitals, more AHC cases were found in Southern Taiwan than in other areas (157/73 vs 24/40, P < 0.001), younger mean age (33.3 +/- 11.1 vs 49.3 +/- 16.4, P < 0.001), lower ALT levels (263.1 +/- 200.9 vs 1264.2 +/- 706.8, P < 0.001) and male predominance (191/39 vs 46/18, P = 0.046). This study showed our reporting system over-estimated the AHC diagnosis, which is also a common issue worldwide. Greater efforts are needed to establish appropriate reporting systems, as well as more supplemental methods to distinguish between prevalent and incident cases.

Data-driven approach for assessing utility of medical tests using electronic medical records.

PubMed

Skrøvseth, Stein Olav; Augestad, Knut Magne; Ebadollahi, Shahram

2015-02-01

To precisely define the utility of tests in a clinical pathway through data-driven analysis of the electronic medical record (EMR). The information content was defined in terms of the entropy of the expected value of the test related to a given outcome. A kernel density classifier was used to estimate the necessary distributions. To validate the method, we used data from the EMR of the gastrointestinal department at a university hospital. Blood tests from patients undergoing surgery for gastrointestinal surgery were analyzed with respect to second surgery within 30 days of the index surgery. The information content is clearly reflected in the patient pathway for certain combinations of tests and outcomes. C-reactive protein tests coupled to anastomosis leakage, a severe complication show a clear pattern of information gain through the patient trajectory, where the greatest gain from the test is 3-4 days post index surgery. We have defined the information content in a data-driven and information theoretic way such that the utility of a test can be precisely defined. The results reflect clinical knowledge. In the case we used the tests carry little negative impact. The general approach can be expanded to cases that carry a substantial negative impact, such as in certain radiological techniques. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

Case Study: Applying OpenEHR Archetypes to a Clinical Data Repository in a Chinese Hospital.

PubMed

Min, Lingtong; Wang, Li; Lu, Xudong; Duan, Huilong

2015-01-01

openEHR is a flexible and scalable modeling methodology for clinical information and has been widely adopted in Europe and Australia. Due to the reasons of differences in clinical process and management, there are few research projects involving openEHR in China. To investigate the feasibility of openEHR methodology for clinical information modelling in China, this paper carries out a case study to apply openEHR archetypes to Clinical Data Repository (CDR) in a Chinese hospital. The results show that a set of 26 archetypes are found to cover all the concepts used in the CDR. Of all these, 9 (34.6%) are reused without change, 10 are modified and/or extended, and 7 are newly defined. The reasons for modification, extension and newly definition have been discussed, including granularity of archetype, metadata-level versus data-level modelling, and the representation of relationships between archetypes.

Complexity, signal detection, and the application of ergonomics: reflections on a healthcare case study.

PubMed

Dekker, Sidney

2012-05-01

Complexity is a defining characteristic of healthcare, and ergonomic interventions in clinical practice need to take into account aspects vital for the success or failure of new technology. The introduction of new monitoring technology, for example, creates many ripple effects through clinical relationships and agents' cross-adaptations. This paper uses the signal detection paradigm to account for a case in which multiple clinical decision makers, across power hierarchies and gender gaps, manipulate each others' sensitivities to evidence and decision criteria. These are possible to analyze and predict with an applied ergonomics that is sensitive to the social complexities of the workplace, including power, gender, hierarchy and fuzzy system boundaries. Copyright © 2011 Elsevier Ltd and The Ergonomics Society. All rights reserved.

Automated Detection of Malarial Retinopathy in Digital Fundus Images for Improved Diagnosis in Malawian Children with Clinically Defined Cerebral Malaria.

PubMed

Joshi, Vinayak; Agurto, Carla; Barriga, Simon; Nemeth, Sheila; Soliz, Peter; MacCormick, Ian J; Lewallen, Susan; Taylor, Terrie E; Harding, Simon P

2017-02-15

Cerebral malaria (CM), a complication of malaria infection, is the cause of the majority of malaria-associated deaths in African children. The standard clinical case definition for CM misclassifies ~25% of patients, but when malarial retinopathy (MR) is added to the clinical case definition, the specificity improves from 61% to 95%. Ocular fundoscopy requires expensive equipment and technical expertise not often available in malaria endemic settings, so we developed an automated software system to analyze retinal color images for MR lesions: retinal whitening, vessel discoloration, and white-centered hemorrhages. The individual lesion detection algorithms were combined using a partial least square classifier to determine the presence or absence of MR. We used a retrospective retinal image dataset of 86 pediatric patients with clinically defined CM (70 with MR and 16 without) to evaluate the algorithm performance. Our goal was to reduce the false positive rate of CM diagnosis, and so the algorithms were tuned at high specificity. This yielded sensitivity/specificity of 95%/100% for the detection of MR overall, and 65%/94% for retinal whitening, 62%/100% for vessel discoloration, and 73%/96% for hemorrhages. This automated system for detecting MR using retinal color images has the potential to improve the accuracy of CM diagnosis.

Automated Detection of Malarial Retinopathy in Digital Fundus Images for Improved Diagnosis in Malawian Children with Clinically Defined Cerebral Malaria

NASA Astrophysics Data System (ADS)

Joshi, Vinayak; Agurto, Carla; Barriga, Simon; Nemeth, Sheila; Soliz, Peter; MacCormick, Ian J.; Lewallen, Susan; Taylor, Terrie E.; Harding, Simon P.

2017-02-01

Cerebral malaria (CM), a complication of malaria infection, is the cause of the majority of malaria-associated deaths in African children. The standard clinical case definition for CM misclassifies ~25% of patients, but when malarial retinopathy (MR) is added to the clinical case definition, the specificity improves from 61% to 95%. Ocular fundoscopy requires expensive equipment and technical expertise not often available in malaria endemic settings, so we developed an automated software system to analyze retinal color images for MR lesions: retinal whitening, vessel discoloration, and white-centered hemorrhages. The individual lesion detection algorithms were combined using a partial least square classifier to determine the presence or absence of MR. We used a retrospective retinal image dataset of 86 pediatric patients with clinically defined CM (70 with MR and 16 without) to evaluate the algorithm performance. Our goal was to reduce the false positive rate of CM diagnosis, and so the algorithms were tuned at high specificity. This yielded sensitivity/specificity of 95%/100% for the detection of MR overall, and 65%/94% for retinal whitening, 62%/100% for vessel discoloration, and 73%/96% for hemorrhages. This automated system for detecting MR using retinal color images has the potential to improve the accuracy of CM diagnosis.

Recurrent hyperparathyroidism: a study of 3 cases with evaluation of some pathogenetic and clinical aspects.

PubMed Central

Mazzuoli, G.; Minisola, S.; Scarda, A.; De Matteis, A.; Tabolli, S.; Bigi, F.; Valtorta, C.; D'Erasmo, E.

1987-01-01

Three patients with recurrent hyperparathyroidism (15, 8 and 3 years respectively, after the first operation) are described in order to establish the causes and define the clinical characteristics of the disease. The observation that in the present series recurrent hyperparathyroidism was associated either with an adenoma (two cases) or a carcinoma (one case), appears to stress the possibility of the pathological involvement of one gland even though recurrent hyperparathyroidism should be considered due to the chronic extrinsic stimulation of the parathyroid glands. The severity of the clinical and metabolic picture observed at the time of the first diagnosis and/or at the time of recurrence together with the simultaneous presence of bone and stone disease in the patients described is of particular interest. The cases reported underline the importance of carrying out careful metabolic investigations in patients with hyperparathyroidism not only before but also for a prolonged period of time after operation. PMID:3671259

Annular Lichenoid Dermatitis of Youth: A Report of 2 Cases and a Review of the Literature.

PubMed

Vázquez-Osorio, I; González-Sabín, M; Gonzalvo-Rodríguez, P; Rodríguez-Díaz, E

2016-01-01

Annular lichenoid dermatitis of youth is a lichenoid dermatosis of unknown etiology. It mostly affects children and adolescents and has well-defined clinical and histological characteristics that permit a diagnosis. We present 2 new cases of annular lichenoid dermatitis of youth with classical clinical features in 2 girls, aged 2 and 4 years. The histologic findings, however, differed from those reported in the literature in that the lichenoid inflammatory infiltrate was located primarily at the top of the dermal papillae and not at the tips of the rete ridges. In both cases, the lesions regressed spontaneously without treatment. Copyright © 2016 AEDV. Published by Elsevier España, S.L.U. All rights reserved.

[Usefulness of clinical, radiologic, and endoscopic studies in chronic diseases of the terminal ileum: analysis of 36 cases].

PubMed

Arista Nasr, J; Gamboa Domínguez, A

1992-01-01

With the purpose of defining which is the most frequent chronic pathology of the terminal ileum in a reference center (INNSZ), and establish the diagnostic accuracy of the preoperative procedures used, 36 resection specimens were reviewed histopathologically. The diseases found in decreasing frequency were: Crohn's disease, tuberculosis, carcinoids, lymphomas, endometriosis and leiomyomas. Seventy-seven percent of the cases were benign and the rest malignant. The number of cases in which the preoperative diagnosis was right or included among the differential diagnosis was as follows: clinical study 44%, radiological study 48%, endoscopical study 32% and histological study by means of endoscopic biopsy 20%. The most frequent differential diagnosis were Crohn's disease, tuberculosis and intestinal lymphoma. It is concluded that chronic disease of the ileum represents frequently a diagnostic problem due to their clinical, endoscopical and radiological similarities which may only be solved by histological analysis of the surgical specimens.

Clinical and Epidemiological Characteristics of Burkitt Lymphomas in Pediatric Patients from Two Defined Socioeconomic Regions in Mexico.

PubMed

Enrique Rendón-Macías, Mario; Alfonso Valencia-Ramón, Edwin; Fajardo-Gutiérrez, Arturo

2017-08-01

We analyzed clinical and epidemiological characteristics of Burkitt lymphoma (BL) in two defined socioeconomic regions in Mexico: high socioeconomic region (HSER; with two political jurisdictions) and low socioeconomic region (LSER; with three jurisdictions). Of the 63 cases registered in the Childhood Cancer Registry (1996-2013), 45 (71.4%) were from HSER and 18 (28.6%) from LSER. The incidence was higher in the LSER (3.1 vs. 1.4 cases per million children/year). The sporadic form and Stages III/IV predominated in both regions. Only one post-renal transplant (HSER) was found. The male/female ratio was higher in the LSER (5.0 vs. 1.4). The peak incidence was in the 1-4 age group for LSER, and in the 5-9 age group for HSER. This difference in the sporadic BL by socioeconomic regions may be related to different exposure factors. © The Author [2016]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Comparison of Strategies and Incidence Thresholds for Vi Conjugate Vaccines Against Typhoid Fever: A Cost-effectiveness Modeling Study.

PubMed

Lo, Nathan C; Gupta, Ribhav; Stanaway, Jeffrey D; Garrett, Denise O; Bogoch, Isaac I; Luby, Stephen P; Andrews, Jason R

2018-02-12

Typhoid fever remains a major public health problem globally. While new Vi conjugate vaccines hold promise for averting disease, the optimal programmatic delivery remains unclear. We aimed to identify the strategies and associated epidemiologic conditions under which Vi conjugate vaccines would be cost-effective. We developed a dynamic, age-structured transmission and cost-effectiveness model that simulated multiple vaccination strategies with a typhoid Vi conjugate vaccine from a societal perspective. We simulated 10-year vaccination programs with (1) routine immunization of infants (aged <1 year) through the Expanded Program on Immunization (EPI) and (2) routine immunization of infants through the EPI plus a 1-time catch-up campaign in school-aged children (aged 5-14 years). In the base case analysis, we assumed a 0.5% case-fatality rate for all cases of clinically symptomatic typhoid fever and defined strategies as highly cost-effective by using the definition of a low-income country (defined as a country with a gross domestic product of $1045 per capita). We defined incidence as the true number of clinically symptomatic people in the population per year. Vi conjugate typhoid vaccines were highly cost-effective when administered by routine immunization activities through the EPI in settings with an annual incidence of >50 cases/100000 (95% uncertainty interval, 40-75 cases) and when administered through the EPI plus a catch-up campaign in settings with an annual incidence of >130 cases/100000 (95% uncertainty interval, 50-395 cases). The incidence threshold was sensitive to the typhoid-related case-fatality rate, carrier contribution to transmission, vaccine characteristics, and country-specific economic threshold for cost-effectiveness. Typhoid Vi conjugate vaccines would be highly cost-effective in low-income countries in settings of moderate typhoid incidence (50 cases/100000 annually). These results were sensitive to case-fatality rates, underscoring the need to consider factors contributing to typhoid mortality (eg, healthcare access and antimicrobial resistance) in the global vaccination strategy. © The Author(s) 2018. Published by Oxford University Press for the Infectious Diseases Society of America.

Self-defining memories, scripts, and the life story: narrative identity in personality and psychotherapy.

PubMed

Singer, Jefferson A; Blagov, Pavel; Berry, Meredith; Oost, Kathryn M

2013-12-01

An integrative model of narrative identity builds on a dual memory system that draws on episodic memory and a long-term self to generate autobiographical memories. Autobiographical memories related to critical goals in a lifetime period lead to life-story memories, which in turn become self-defining memories when linked to an individual's enduring concerns. Self-defining memories that share repetitive emotion-outcome sequences yield narrative scripts, abstracted templates that filter cognitive-affective processing. The life story is the individual's overarching narrative that provides unity and purpose over the life course. Healthy narrative identity combines memory specificity with adaptive meaning-making to achieve insight and well-being, as demonstrated through a literature review of personality and clinical research, as well as new findings from our own research program. A clinical case study drawing on this narrative identity model is also presented with implications for treatment and research. © 2012 Wiley Periodicals, Inc.

Features of ciguatera fish poisoning cases in Hong Kong 2004-2007.

PubMed

Wong, Chun-Kwan; Hung, Patricia; Lee, Kellie L H; Mok, Tina; Chung, Thomas; Kam, Kai-Man

2008-12-01

To review the clinical features and laboratory investigations of ciguatera patients in Hong Kong between 2004 and 2007 in order to show the timely sampling of implicated fish from ciguatera victims and application of validated mouse bioassay for confirming suspected clinical cases of ciguatera. Diagnosis of the ciguatera victims was based on history of coral fish consumption and clinical presentations stated in official guidelines for clinical diagnosis of ciguatera fish poisoning in Hong Kong. Food remnants of coral fish samples were collected swiftly from ciguatera victims between 2004 and 2007 for ciguatoxins (CTXs) analysis. Major clinical symptoms in ciguatera patients included gastrointestinal and neurological effects including limb numbness and diarrhoea, which developed at 0.5 to 15 hours after consumption of fish. In most cases, neurological symptoms were more common than gastrointestinal symptoms. A broad range of attack rate (10%-100%) was observed in each ciguatera outbreak. Validated mouse bioassay on ether extracts of the food remnant samples confirmed that all were CTXs-positive (<0.5 - 4.3 MU/20 mg ether extract) and directly linked to the corresponding ciguatera cases. Consistency between clinical and laboratory analysis for ciguatera poisoning illustrates the application of laboratory mouse bioassay in a timely fashion for confirming ciguatera poisoning cases and implementing effective public health measures. With further improvement in laboratory techniques, features of ciguatera fish poisoning cases can be better defined. Further studies are needed to determine the risk of each class of CTXs (Pacific-, Indian- and Caribbean-CTXs) in Hong Kong.

Streptococcal necrotizing myositis: a case report and clinical review.

PubMed

Hourmozdi, Justin J; Hawley, Dean A; Hadi, Christiane M; Tahir, Bilal; Seupaul, Rawle A

2014-03-01

Streptococcal necrotizing myositis, also known as gangrenous myositis, is a very rare and severe soft tissue infection that predominately involves skeletal muscle and, eventually, superficial fascia and surrounding tissues. The presentation is often nonspecific until the rapidly progressing clinical course becomes apparent. A high morbidity and mortality rate has been reported in the small number of cases since 1900. Despite several attempts to better define the different entities causing necrotizing myositis, no single definitive causal relationship has been defined. A review of the literature is presented here to help clinicians distinguish those with necrotizing myositis from those with nonnecrotizing myositis when the clinician is at all confronted with the suspicion for such an infection. The case presented is that of a 48-year-old woman who had streptococcal necrotizing myositis. She died roughly 72 h after admission. After the patient's death, the clinical team sought consent for autopsy. Hospital staff made contact with family, and information was obtained from the family that the onset of the patient's symptoms was allegedly temporally related to her acquisition of a new tattoo on the right back, where the tattoo process allegedly included injection of cremated ashes of a pet dog. A high level of suspicion for necrotizing myositis must be maintained for a patient with unexplained severe muscle pain and soft tissue swelling accompanied by systemic inflammatory response syndrome. Copyright © 2014 Elsevier Inc. All rights reserved.

[STRATEGY OF USE AND MAINTENANCE OF CLINICAL HOSPITAL CENTER RIJEKA IN ACCORDANCE WITH KEY PERFORMANCE INDICATORS FOR STRATEGIC HEALTHCARE FACILITIES MAINTENANCE].

PubMed

Sjekavica, Mariela; Haller, Herman; Cerić, Anita

2015-01-01

Building usage is the phase in the building life cycle that is most time-consuming, most functional, most significant due to building purpose and often systematically ignored. Maintenance is the set of activities that ensure the planned duration of facility exploitation phase in accordance with the requirements for quality maintenance of a large number of important building features as well as other elements immanent to the nature of facilities' life. The aim of the study is to show the analysis of the current state of organized, planned and comprehensive managerial approach in hospital utilization and maintenance in the Republic of Croatia, given on the case study of Clinical hospital center in Rijeka. The methodology used consists of relevant literature section of theory of facility utilization, maintenance and management in general, hospital buildings especially, display of practice on case study, and comparison of key performance indicators values obtained through interview with those that author Igal M. Shohet defined in his study by field surveys and statistical analyses. Despite many positive indicators of Clinical hospital center Rijeka maintenance, an additional research is needed in order to define a more complete national hospital maintenance strategy.

Alopecia areata universalis in a dog.

PubMed

Ginel, Pedro J; Blanco, Beatriz; Pérez-Aranda, María; Zafra, Rafael; Mozos, Elena

2015-10-01

Alopecia areata is a T-cell mediated autoimmune disease that occurs in humans and various other mammalian species. When the disease progresses to total alopecia it is defined as alopecia areata universalis (AAU), although this outcome has only been described in humans. To describe a case of canine alopecia areata universalis and its clinical outcome after 22 months of follow-up. A 9-year-old intact male cross-breed hunting dog was presented with generalized and complete noninflammatory alopecia of 12-14 months duration. Clinical examination; histopathological and immunohistochemical examination of skin biopsies. There was loss of all body hair including eyelashes and vibrissae. The histopathological and immunohistochemical findings supported a diagnosis of long-standing alopecia areata. Treatment with oral ciclosporin was associated with hair regrowth but muzzle hair, most eyelashes and whiskers were still lacking after 17 months of therapy. To the best of the author's knowledge this is the first documented case of canine AAU. The clinical and histopathological features were consistent with a diagnosis of AAU as defined in humans. Treatment with oral ciclosporin resulted in near complete resolution of the alopecia, but after 5 months without treatment the alopecia did not relapse and spontaneous resolution cannot be ruled out. © 2015 ESVD and ACVD.

Role of percutaneous abscess drainage in the management of young patients with Crohn disease.

PubMed

Pugmire, Brian S; Gee, Michael S; Kaplan, Jess L; Hahn, Peter F; Doody, Daniel P; Winter, Harland S; Gervais, Debra A

2016-05-01

Intra-abdominal abscess is a common complication of Crohn disease in children. Prior studies, primarily in adults, have shown that percutaneous abscess drainage is a safe and effective treatment for this condition; however, the data regarding this procedure and indications in pediatric patients is limited. Our aim was to determine the success rate of percutaneous abscess drainage for abscesses related to Crohn disease in pediatric patients with a focus on treatment endpoints that are relevant in the era of biological medical therapy. We retrospectively reviewed 25 cases of patients ages ≤20 years with Crohn disease who underwent percutaneous abscess drainage. Technical success was defined as catheter placement within the abscess with reduction in abscess size on post-treatment imaging. Clinical success was defined as (1) no surgery within 1 year of drainage or (2) surgical resection following drainage with no residual abscess at surgery or on preoperative imaging. Multiple clinical parameters were analyzed for association with treatment success or failure. All cases were classified as technical successes. Nineteen cases were classified as clinical successes (76%), including 7 patients (28%) who required no surgery within 1 year of percutaneous drainage and 12 patients (48%) who had elective bowel resection within 1 year. There was a statistically significant association between resumption of immunosuppressive therapy within 8 weeks of drainage and both clinical success (P < 0.01) and avoidance of surgery after 1 year (P < 0.01). Percutaneous abscess drainage is an effective treatment for Crohn disease-related abscesses in pediatric patients. Early resumption of immunosuppressive therapy is statistically associated with both clinical success and avoidance of bowel resection, suggesting a role for percutaneous drainage in facilitating prompt initiation of medical therapy and preventing surgical bowel resection.

[Scientific, practical and educational aspects of clinical epidemiology].

PubMed

Briko, N I

2012-01-01

This article defines clinical epidemiology and describes its goal and objectives. The author claims that clinical epidemiology is a section of epidemiology which underlies the development of evidence-based standards for diagnostics, treatment and prevention and helps to select the appropriate algorithm for each clinical case. The study provides a comprehensive overview of the relationship between clinical epidemiology and evidence-based medicine. Epidemiological research is shown to be methodological basis of clinical epidemiology and evidence-based medicine with randomized controlled trials being the "gold standard" for obtaining reliable data. The key stages in the history of clinical epidemiology are discussed and further development of clinical epidemiology and the integration of courses on clinical epidemiology in education is outlined for progress in medical research and health care practice.

Extreme weather events and environmental contamination are associated with case-clusters of melioidosis in the Northern Territory of Australia.

PubMed

Cheng, Allen C; Jacups, Susan P; Gal, Daniel; Mayo, Mark; Currie, Bart J

2006-04-01

Melioidosis, the infection due to the environmental organism Burkholderia pseudomallei, is endemic to northern Australia and South East Asia. It is associated with exposure to mud and pooled surface water, but environmental determinants of this disease are poorly understood. We defined case-clusters in northern Australia, determined their contribution to the observed rate of melioidosis, and explored clinical features and associated environmental factors. Using geographical information systems data, we examined clustering of melioidosis cases in time and geographical space in the Top End of the Northern Territory of Australia between 1990 and 2002 using a scan statistic. DNA macrorestriction analysis, resolved by pulsed field gel electrophoresis, was performed on isolates from patients. We defined five case-clusters involving 27 patients that occurred within 7-28 days and/or a radius of 100-300 km. Clustered cases were associated with extreme weather events or environmental contamination; no difference in the clinical pattern of disease was noted from other patients not involved in clusters. Isolates from patients linked to environmental contamination were caused by isolates with similar DNA macrorestriction patterns, but isolates from patients linked to severe weather events had more diverse DNA macrorestriction patterns. Case-clusters of melioidosis where isolates exhibit diverse DNA macrorestriction patterns in our region are linked to extreme weather events and outbreaks where isolates are predominantly of the same DNA macrorestriction pattern are linked with contamination of an environmental source.

Refeeding syndrome or refeeding hypophosphatemia: a systematic review of cases.

PubMed

Skipper, Annalynn

2012-02-01

Nutrition support clinicians refer to the abnormalities in laboratory data and changes in clinical signs and symptoms that follow refeeding of starved or malnourished patients as refeeding syndrome. Theoretical descriptions of refeeding syndrome include a complex and extensive list of changes, such as hypophosphatemia, hypomagnesemia, hypokalemia, hyponatremia, hypocalcemia, hyperglycemia, and vitamin deficiency--all of which are accompanied by clinical signs and symptoms. In practice, clinicians see asymptomatic refeeding hypophosphatemia more often than a full-blown syndrome with multiple laboratory and clinical abnormalities. Confusion results because there is no widely accepted or uniformly applied set of defining characteristics for diagnosing refeeding syndrome. To gain insight into the clinical characteristics of refeeding syndrome described in the literature, a systematic review of reported cases and case series was conducted. Since 2000, 20 authors described 27 cases that contained sufficient data for review. Hypophosphatemia occurred in 26 patients (96%). While 19 patients (71%) experienced at least 1 other laboratory abnormality, only 14 (51%) exhibited a consistent pattern of abnormally low phosphorus and magnesium levels. Seven patients had hypocalcemia (26%), and hyponatremia was reported in 3 patients (11%). There were no reports of hyperglycemia. Mean data reported in case series containing data from 63 patients showed that hypophosphatemia was a consistent finding but that other abnormalities were not consistently identified. Findings suggest that refeeding hypophosphatemia is not accompanied by a consistent pattern of biochemical or clinical abnormalities among case reports or case series of patients reported to have refeeding syndrome.

Role Clarification Processes for Better Integration of Nurse Practitioners into Primary Healthcare Teams: A Multiple-Case Study

PubMed Central

D'Amour, Danielle; Contandriopoulos, Damien; Chouinard, Véronique; Dubois, Carl-Ardy

2014-01-01

Role clarity is a crucial issue for effective interprofessional collaboration. Poorly defined roles can become a source of conflict in clinical teams and reduce the effectiveness of care and services delivered to the population. Our objective in this paper is to outline processes for clarifying professional roles when a new role is introduced into clinical teams, that of the primary healthcare nurse practitioner (PHCNP). To support our empirical analysis we used the Canadian National Interprofessional Competency Framework, which defines the essential components for role clarification among professionals. A qualitative multiple-case study was conducted on six cases in which the PHCNP role was introduced into primary care teams. Data collection included 34 semistructured interviews with key informants involved in the implementation of the PHCNP role. Our results revealed that the best performing primary care teams were those that used a variety of organizational and individual strategies to carry out role clarification processes. From this study, we conclude that role clarification is both an organizational process to be developed and a competency that each member of the primary care team must mobilize to ensure effective interprofessional collaboration. PMID:25692039

Role clarification processes for better integration of nurse practitioners into primary healthcare teams: a multiple-case study.

PubMed

Brault, Isabelle; Kilpatrick, Kelley; D'Amour, Danielle; Contandriopoulos, Damien; Chouinard, Véronique; Dubois, Carl-Ardy; Perroux, Mélanie; Beaulieu, Marie-Dominique

2014-01-01

Role clarity is a crucial issue for effective interprofessional collaboration. Poorly defined roles can become a source of conflict in clinical teams and reduce the effectiveness of care and services delivered to the population. Our objective in this paper is to outline processes for clarifying professional roles when a new role is introduced into clinical teams, that of the primary healthcare nurse practitioner (PHCNP). To support our empirical analysis we used the Canadian National Interprofessional Competency Framework, which defines the essential components for role clarification among professionals. A qualitative multiple-case study was conducted on six cases in which the PHCNP role was introduced into primary care teams. Data collection included 34 semistructured interviews with key informants involved in the implementation of the PHCNP role. Our results revealed that the best performing primary care teams were those that used a variety of organizational and individual strategies to carry out role clarification processes. From this study, we conclude that role clarification is both an organizational process to be developed and a competency that each member of the primary care team must mobilize to ensure effective interprofessional collaboration.

Outbreak of Pantoea agglomerans Bloodstream Infections at an Oncology Clinic-Illinois, 2012-2013.

PubMed

Yablon, Brian R; Dantes, Raymund; Tsai, Victoria; Lim, Rachel; Moulton-Meissner, Heather; Arduino, Matthew; Jensen, Bette; Patel, Megan Toth; Vernon, Michael O; Grant-Greene, Yoran; Christiansen, Demian; Conover, Craig; Kallen, Alexander; Guh, Alice Y

2017-03-01

OBJECTIVE To determine the source of a healthcare-associated outbreak of Pantoea agglomerans bloodstream infections. DESIGN Epidemiologic investigation of the outbreak. SETTING Oncology clinic (clinic A). METHODS Cases were defined as Pantoea isolation from blood or catheter tip cultures of clinic A patients during July 2012-May 2013. Clinic A medical charts and laboratory records were reviewed; infection prevention practices and the facility's water system were evaluated. Environmental samples were collected for culture. Clinical and environmental P. agglomerans isolates were compared using pulsed-field gel electrophoresis. RESULTS Twelve cases were identified; median (range) age was 65 (41-78) years. All patients had malignant tumors and had received infusions at clinic A. Deficiencies in parenteral medication preparation and handling were identified (eg, placing infusates near sinks with potential for splash-back contamination). Facility inspection revealed substantial dead-end water piping and inadequate chlorine residual in tap water from multiple sinks, including the pharmacy clean room sink. P. agglomerans was isolated from composite surface swabs of 7 sinks and an ice machine; the pharmacy clean room sink isolate was indistinguishable by pulsed-field gel electrophoresis from 7 of 9 available patient isolates. CONCLUSIONS Exposure of locally prepared infusates to a contaminated pharmacy sink caused the outbreak. Improvements in parenteral medication preparation, including moving chemotherapy preparation offsite, along with terminal sink cleaning and water system remediation ended the outbreak. Greater awareness of recommended medication preparation and handling practices as well as further efforts to better define the contribution of contaminated sinks and plumbing deficiencies to healthcare-associated infections are needed. Infect Control Hosp Epidemiol 2017;38:314-319.

[Clinical features and management of acute myositis in idiopathic orbital inflammation].

PubMed

Halimi, E; Rosenberg, R; Wavreille, O; Bouckehove, S; Franquet, N; Labalette, P

2013-09-01

Acute myositis is the second most common component of non-specific orbital inflammation. We will describe its clinical features and natural history. This is a retrospective study of 10 cases. The diagnosis of acute myositis was based on clinical and imaging criteria. Our study includes five men and five women. The average age was 35.8 years (17-59 years). Clinical symptoms were: pain increased on eye movement (10/10), diplopia (4/10), proptosis (6/10), visual loss (3/10), lid edema (6/10), conjunctival hyperemia (7/10), anterior scleritis (2/10), episcleritis (2/10), chemosis (4/10), upper lid retraction (1/10), limitation of eye movement (3/10), fundus abnormalities (2/10). Imaging showed thickening of one or more extraocular muscles (10/10). Recovery was complete with anti-inflammatory therapy in six patients. Three patients experienced recurrence, and one patient had a clinical rebound upon tapering the treatment. Acute myositis can be defined by pain on eye movement, signs of inflammation, and extraocular muscle thickening on imaging. If the clinical presentation is typical, histopathological analysis can be deferred but remains necessary in cases of poor response to treatment, chronic duration or suspicion of tumor infiltration. The diagnosis of acute myositis may be suspected in the presence of consistent, well-defined clinical signs. Contiguous inflammation is often associated. Treatment is based on steroids or non-steroidal treatment anti-inflammatory therapy, administered alone or consecutively. Recurrences are frequent but do not alter the final prognosis. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Identifying Sources of Clinical Conflict: A Tool for Practice and Training in Bioethics Mediation.

PubMed

Bergman, Edward J

2015-01-01

Bioethics mediators manage a wide range of clinical conflict emanating from diverse sources. Parties to clinical conflict are often not fully aware of, nor willing to express, the true nature and scope of their conflict. As such, a significant task of the bioethics mediator is to help define that conflict. The ability to assess and apply the tools necessary for an effective mediation process can be facilitated by each mediator's creation of a personal compendium of sources that generate clinical conflict, to provide an orientation for the successful management of complex dilemmatic cases. Copyright 2015 The Journal of Clinical Ethics. All rights reserved.

Traumatic Bonding: Clinical Implications in Incest.

ERIC Educational Resources Information Center

deYoung, Mary; Lowry, Judith A.

1992-01-01

"Traumatic bonding" is defined as "the evolution of emotional dependency between...a child and an adult [in] a relationship characterized by periodic sexual abuse." Maintains that the concept holds promise for explaining confusing dynamics of incest. Demonstrates ways in which traumatic bonding can be applied to cases of incest…

Cerebellar Liponeurocytoma: A Novel Report from Nigeria in a 6-Year-Old Girl, and Review of Literature.

PubMed

Nzegwu, Martin A; Ohegbulam, Samuel; Ndubuisi, Chika; Okwunodulu, Okwuoma; Okorie, Emeka; Nkwerem, Sunday; Okonkwo, Onyiye; Aniume, Onyeka; Nnamani, Sunday; Nwokoro, Onyekachi; Eni, Anthony; Nwideyi, Isaiah; Nzegwu, Victor

2016-09-05

Liponeurocytoma is a newly defined clinical entity predominantly seen in the cerebellum as a slow-growing tumor. In this report, we present the case of a 6-year-old Nigerian girl with a liponeurocytoma, and review of literature.

The Clinical Features and Surgical Outcomes of Spinal Cord Tanycytic Ependymomas: A Report of 40 Cases.

PubMed

Tao, Xiaogang; Hou, Zonggang; Hao, Shuyu; Zhang, Qi; Wu, Zhen; Zhang, Junting; Liu, Baiyun

2017-10-01

Spinal cord tanycytic ependymomas (TEs) rarely are reported because of extremely low incidence. Understanding of this disease is therefore poor. The aim of this study was to analyze the incidence and clinical, radiologic, pathologic, and prognostic features of spinal cord TEs. Approximately 4000 spinal cord tumors were resected surgically in Beijing Tiantan Hospital between April 2009 and May 2016. We identified all cases of pathologically proved TEs among these patients. TEs accounted for approximately 1% of spinal cord tumors (40 of an estimated 4000). Patients with TE were a mean age of 40.0 years and had no significant sex preference (21 male and 19 female). The median diameter of the maximal tumor was 54.2 mm (range, 16-153 mm). The mean preoperative Japanese Orthopedic Association (JOA) score was 13.0. Radiologically, 47.5% (19/40) cases showed poorly defined tumor border, and 40% (16/40) of them showed preoperative syringomyelia. Gross total resection was achieved in 30 cases, subtotal resection in 8, and partial resection in 2. At the time of discharge, JOA score and neurologic function showed improvement in 26 cases (65%), no change in 12 cases (30%), and worsening in 2 cases (5%). At a median follow-up of 43 months (range, 7-101 months), 1- and 5-year progression-free survival rates were 100.0% and 97.5%, respectively. Only one patient had tumor recurrence which was found 30 months after surgery. No patient died of tumor recurrence. At the latest follow-up, JOA score showed improvement in 30 cases (75%), no change in 8 cases (20%), and worsening in 2 cases (5%). Univariate analysis revealed that tumor size and preoperative JOA score were significantly associated with the short-term outcomes. Meanwhile, age ≥40 years, tumor size ≥50 mm, non-gross total resection, and preoperative JOA score <14 were significantly associated with an increased risk of worsened long-term outcomes. Poorly defined tumor border and preoperative JOA score <14 significantly limited the extent of tumor resection. Spinal cord TE is a rare subtype of ependymomas with low recurrence. Long-term survival can be expected, although poorly defined tumor border is an independent predictor of long-term outcomes. Microsurgical treatment of spinal cord TEs remains a formidable challenge due to the poorly defined border and critical neurovascular structures encasement. It is unnecessary for radical tumor resection at the cost of severe neurologic deficits. Copyright © 2017 Elsevier Inc. All rights reserved.

[Epidemiology and clinical characteristics of primary congenital glaucoma].

PubMed

Aziz, A; Fakhoury, O; Matonti, F; Pieri, E; Denis, D

2015-12-01

Primary congenital glaucoma (PCG) is a rare and sight threatening condition. Few large epidemiological studies are available in the literature concerning this condition. The purpose of the study was to evaluate the epidemiological and clinical characteristics of children affected by PCG. Children affected by PCG, from 1 day to 3 years old at the time of diagnosis were retrospectively included between 1999 and 2014. The analysis concerned the pregnancy, family history, initial referral, clinical presentation with description of the classic findings in this condition, mean age at first consultation, duration of follow-up and presence of a delay in treatment, defined as a delay of over one month from the appearance of clinical signs until diagnosis. Two groups were defined according to age at appearance of the clinical signs: "early" group prior to 2 months old and "late" group beyond 2 months up until 3 years old. One hundred and forty-one eyes of 71 children were included, with 49.3% girls (n=35 children) and 50.7% boys (n=36 children) for a male:female ratio of 1.02. The "early" group included 50 children i.e. 70.3% of the population; the "late" group 21 children or 29.7% of the population. A first-degree family history of congenital glaucoma existed in 28% of cases (n=19). The average age at first consultation was 13.1 months for the entire population, and the mean duration of follow-up was 56.6 months. Involvement was bilateral in 99.3% of cases (n=70 children) and the most frequent clinical sign was buphthalmos in 64.5% of eyes (n=91 eyes). Treatment was delayed in 35.3% of cases (n=25 children). This study is of particular relevance because it was performed over a long period and on a large population, considering the rare prevalence of the pathology, and has found epidemiological and clinical data comparable with those available in the literature for similar populations. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

WE-F-201-00: Practical Guidelines for Commissioning Advanced Brachytherapy Dose Calculation Algorithms

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

NONE

2015-06-15

With the recent introduction of heterogeneity correction algorithms for brachytherapy, the AAPM community is still unclear on how to commission and implement these into clinical practice. The recently-published AAPM TG-186 report discusses important issues for clinical implementation of these algorithms. A charge of the AAPM-ESTRO-ABG Working Group on MBDCA in Brachytherapy (WGMBDCA) is the development of a set of well-defined test case plans, available as references in the software commissioning process to be performed by clinical end-users. In this practical medical physics course, specific examples on how to perform the commissioning process are presented, as well as descriptions of themore » clinical impact from recent literature reporting comparisons of TG-43 and heterogeneity-based dosimetry. Learning Objectives: Identify key clinical applications needing advanced dose calculation in brachytherapy. Review TG-186 and WGMBDCA guidelines, commission process, and dosimetry benchmarks. Evaluate clinical cases using commercially available systems and compare to TG-43 dosimetry.« less

Female Infertility and Serum Auto-antibodies: a Systematic Review.

PubMed

Deroux, Alban; Dumestre-Perard, Chantal; Dunand-Faure, Camille; Bouillet, Laurence; Hoffmann, Pascale

2017-08-01

On average, 10 % of infertile couples have unexplained infertility. Auto-immune disease (systemic lupus erythematosus, anti-phospholipid syndrome) accounts for a part of these cases. In the last 20 years, aspecific auto-immunity, defined as positivity of auto-antibodies in blood sample without clinical or biological criteria for defined diseases, has been evoked in a subpopulation of infertile women. A systematic review was performed (PUBMED) using the MESH search terms "infertility" and "auto-immunity" or "reproductive technique" or "assisted reproduction" or "in vitro fertilization" and "auto-immunity." We retained clinical and physiopathological studies that were applicable to the clinician in assuming joint management of both infertility associated with serum auto-antibodies in women. Thyroid auto-immunity which affects thyroid function could be a cause of infertility; even in euthyroidia, the presence of anti-thyroperoxydase antibodies and/or thyroglobulin are related to infertility. The presence of anti-phospholipid (APL) and/or anti-nuclear (ANA) antibodies seems to be more frequent in the population of infertile women; serum auto-antibodies are associated with early ovarian failure, itself responsible for fertility disorders. However, there exist few publications on this topic. The methods of dosage, as well as the clinical criteria of unexplained infertility deserve to be standardized to allow a precise response to the question of the role of serum auto-antibodies in these women. The direct pathogenesis of this auto-immunity is unknown, but therapeutic immunomodulators, prescribed on a case-by-case basis, could favor pregnancy even in cases of unexplained primary or secondary infertility.

Clinicopathological review of immunohistochemically defined Kikuchi-Fujimoto disease-including some interesting cases.

PubMed

Seong, Gil Myeong; Kim, Jo-Heon; Lim, Gil Chai; Kim, Jinseok

2012-10-01

Kikuchi-Fujimoto Disease (KFD) is a benign, self-limited disease characterized by tender regional lymphadenopathy with fever. KFD remains a poorly defined disease, and no clear diagnostic criteria are available. Here, we assess the clinical, laboratory, and histopathologic findings of KFD cases and report two unusual cases. Forty KFD patients that underwent lymph node (LN) biopsy and diagnosed by immunohistochemical staining, from January 2003 to November 2010, were enrolled in this retrospective study. The patients had a mean age of 29.3 years, and 29 (72.5 %) were women. Affected LNs were mainly located unilaterally in the cervical area. Mean LN size was 15.3 mm. Twenty-eight (70 %) patients had LN tenderness, and 25 (62.5 %) patients had fever. Leukopenia was observed in 18 of 35 evaluable patients. C-reactive protein and erythrocyte sedimentation rate were elevated in most patients. Anti-nuclear antibody was positive in four of 19 evaluable patients, but all had been diagnosed with concurrent systemic lupus erythematosus. Histologically, the 40 cases were classified into three types, that is, as proliferative (37.5 %), necrotizing (55.0 %), or xanthomatous (7.5 %). Interesting cases: Case 1 was a 35-year-old female with KFD and uveitis, retinal vasculitis, and superior sagittal sinus thrombosis. Case 2 was a 47-year-old male with KFD and bone marrow involvement and presented with severe bicytopenia. Although KFD is an uncommon self-limited benign disorder, it must be included in the differential diagnosis of lymphadenopathy with fever and cytopenia. It is important that the clinical features of KFD be understood to reach a correct diagnosis.

Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach

PubMed Central

Fernandez, Bridget A.; Scherer, Stephen W.

2017-01-01

Autism spectrum disorder (ASD) encompasses a group of neurodevelopmental conditions diagnosed solely on the basis of behavioral assessments that reveal social deficits. Progress has been made in understanding its genetic underpinnings, but most ASD-associated genetic variants, which include copy number variants (CNVs) and mutations in ASD-risk genes, account for no more than 1 % of ASD cases. This high level of genetic heterogeneity leads to challenges obtaining and interpreting genetic testing in clinical settings. The traditional definition of syndromic ASD is a disorder with a clinically defined pattern of somatic abnormalities and a neurobehavioral phenotype that may include ASD. Most have a known genetic cause. Examples include fragile X syndrome and tuberous sclerosis complex. We propose dividing syndromic autism into the following two groups: (i) ASD that occurs in the context of a clinically defined syndrome-recognizing these disorders depends on the familiarity of the clinician with the features of the syndrome, and the diagnosis is typically confirmed by targeted genetic testing (eg, mutation screening of FMR1); (ii) ASD that occurs as a feature of a molecularly defined syndrome-for this group of patients, ASD-associated variants are identified by genome-wide testing that is not hypothesis driven (eg, microarray, whole exome sequencing). These ASD groups cannot be easily clinically defined because patients with a given variant have variable somatic abnormalities (dysmorphism and birth defects). In this article, we review common diagnoses from the above categories and suggest a testing strategy for patients, guided by determining whether the individual has essential or complex ASD; patients in the latter group have multiple morphologic anomalies on physical examination. Finally, we recommend that the syndromic versus nonsyndromic designation ultimately be replaced by classification of ASD according to its genetic etiology, which will inform about the associated spectrum and penetrance of neurobehavioral and somatic manifestations. PMID:29398931

Cerebellar Liponeurocytoma: A Novel Report from Nigeria in a 6-Year-Old Girl, and Review of Literature

PubMed Central

Nzegwu, Martin A.; Ohegbulam, Samuel; Ndubuisi, Chika; Okwunodulu, Okwuoma; Okorie, Emeka; Nkwerem, Sunday; Okonkwo, Onyiye; Aniume, Onyeka; Nnamani, Sunday; Nwokoro, Onyekachi; Eni, Anthony; Nwideyi, Isaiah; Nzegwu, Victor

2016-01-01

Liponeurocytoma is a newly defined clinical entity predominantly seen in the cerebellum as a slow-growing tumor. In this report, we present the case of a 6-year-old Nigerian girl with a liponeurocytoma, and review of literature. PMID:27746877

A Diagnostic Model for Dementia in Clinical Practice-Case Methodology Assisting Dementia Diagnosis.

PubMed

Londos, Elisabet

2015-04-02

Dementia diagnosis is important for many different reasons. Firstly, to separate dementia, or major neurocognitive disorder, from MCI (mild cognitive impairment), mild neurocognitive disorder. Secondly, to define the specific underlying brain disorder to aid treatment, prognosis and decisions regarding care needs and assistance. The diagnostic method of dementias is a puzzle of different data pieces to be fitted together in the best possible way to reach a clinical diagnosis. Using a modified case methodology concept, risk factors affecting cognitive reserve and symptoms constituting the basis of the brain damage hypothesis, can be visualized, balanced and reflected against test results as well as structural and biochemical markers. The model's origin is the case method initially described in Harvard business school, here modified to serve dementia diagnostics.

A Diagnostic Model for Dementia in Clinical Practice—Case Methodology Assisting Dementia Diagnosis

PubMed Central

Londos, Elisabet

2015-01-01

Dementia diagnosis is important for many different reasons. Firstly, to separate dementia, or major neurocognitive disorder, from MCI (mild cognitive impairment), mild neurocognitive disorder. Secondly, to define the specific underlying brain disorder to aid treatment, prognosis and decisions regarding care needs and assistance. The diagnostic method of dementias is a puzzle of different data pieces to be fitted together in the best possible way to reach a clinical diagnosis. Using a modified case methodology concept, risk factors affecting cognitive reserve and symptoms constituting the basis of the brain damage hypothesis, can be visualized, balanced and reflected against test results as well as structural and biochemical markers. The model’s origin is the case method initially described in Harvard business school, here modified to serve dementia diagnostics. PMID:26854146

Maximizing the probability of satisfying the clinical goals in radiation therapy treatment planning under setup uncertainty

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

Fredriksson, Albin, E-mail: albin.fredriksson@raysearchlabs.com; Hårdemark, Björn; Forsgren, Anders

2015-07-15

Purpose: This paper introduces a method that maximizes the probability of satisfying the clinical goals in intensity-modulated radiation therapy treatments subject to setup uncertainty. Methods: The authors perform robust optimization in which the clinical goals are constrained to be satisfied whenever the setup error falls within an uncertainty set. The shape of the uncertainty set is included as a variable in the optimization. The goal of the optimization is to modify the shape of the uncertainty set in order to maximize the probability that the setup error will fall within the modified set. Because the constraints enforce the clinical goalsmore » to be satisfied under all setup errors within the uncertainty set, this is equivalent to maximizing the probability of satisfying the clinical goals. This type of robust optimization is studied with respect to photon and proton therapy applied to a prostate case and compared to robust optimization using an a priori defined uncertainty set. Results: Slight reductions of the uncertainty sets resulted in plans that satisfied a larger number of clinical goals than optimization with respect to a priori defined uncertainty sets, both within the reduced uncertainty sets and within the a priori, nonreduced, uncertainty sets. For the prostate case, the plans taking reduced uncertainty sets into account satisfied 1.4 (photons) and 1.5 (protons) times as many clinical goals over the scenarios as the method taking a priori uncertainty sets into account. Conclusions: Reducing the uncertainty sets enabled the optimization to find better solutions with respect to the errors within the reduced as well as the nonreduced uncertainty sets and thereby achieve higher probability of satisfying the clinical goals. This shows that asking for a little less in the optimization sometimes leads to better overall plan quality.« less

[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.

Gastric Volvulus: A Rare Entity Case Report and Literature Review

PubMed Central

Akhtar, Aisha; Sheikh, Abdul Ahad E; Sheikh, Abu Baker; Perisetti, Abhilash

2018-01-01

Gastric volvulus is a rare entity defined as an abnormal rotation of the stomach around itself. It is a diagnosis of exclusion; the clinical index of suspicion is always low and is mostly diagnosed on imaging or on the surgery table. When it occurs, it is an emergency due to the risk of strangulation and consequent gangrene of the stomach. Mesentero-axial (MA) gastric volvuli constitute one-third of all cases. Here, we are present an interesting case of acute MA gastric volvulus diagnosed with imaging and treated subsequently. PMID:29755908

Nursing diagnosis of grieving: content validity in perinatal loss situations.

PubMed

Paloma-Castro, Olga; Romero-Sánchez, José Manuel; Paramio-Cuevas, Juan Carlos; Pastor-Montero, Sonia María; Castro-Yuste, Cristina; Frandsen, Anna J; Albar-Marín, María Jesús; Bas-Sarmiento, Pilar; Moreno-Corral, Luis Javier

2014-06-01

To validate the content of the NANDA-I nursing diagnosis of grieving in situations of perinatal loss. Using the Fehring's model, 208 Spanish experts were asked to assess the adequacy of the defining characteristics and other manifestations identified in the literature for cases of perinatal loss. The content validity index was 0.867. Twelve of the 18 defining characteristics were validated, seven as major and five as minor. From the manifestations proposed, "empty inside" was considered as major. The nursing diagnosis of grieving fits in content to the cases of perinatal loss according to experts. The results have provided evidence to support the use of the diagnosis in care plans for said clinical situation. © 2013 NANDA International.

Chest Radiograph Findings in Childhood Pneumonia Cases From the Multisite PERCH Study

PubMed Central

Deloria Knoll, Maria; Baggett, Henry C.; Brooks, W. Abdullah; Feikin, Daniel R.; Hammitt, Laura L.; Howie, Stephen R. C.; Kotloff, Karen L.; Levine, Orin S.; Madhi, Shabir A.; Murdoch, David R.; Scott, J. Anthony G.; Thea, Donald M.; Awori, Juliet O.; Barger-Kamate, Breanna; Chipeta, James; DeLuca, Andrea N.; Diallo, Mahamadou; Driscoll, Amanda J.; Ebruke, Bernard E.; Higdon, Melissa M.; Jahan, Yasmin; Karron, Ruth A.; Mahomed, Nasreen; Moore, David P.; Nahar, Kamrun; Naorat, Sathapana; Ominde, Micah Silaba; Park, Daniel E.; Prosperi, Christine; wa Somwe, Somwe; Thamthitiwat, Somsak; Zaman, Syed M. A.; Zeger, Scott L.; O’Brien, Katherine L.; O’Brien, Katherine L.; Levine, Orin S.; Knoll, Maria Deloria; Feikin, Daniel R.; DeLuca, Andrea N.; Driscoll, Amanda J.; Fancourt, Nicholas; Fu, Wei; Hammitt, Laura L.; Higdon, Melissa M.; Kagucia, E. Wangeci; Karron, Ruth A.; Li, Mengying; Park, Daniel E.; Prosperi, Christine; Wu, Zhenke; Zeger, Scott L.; Watson, Nora L.; Crawley, Jane; Murdoch, David R.; Brooks, W. Abdullah; Endtz, Hubert P.; Zaman, Khalequ; Goswami, Doli; Hossain, Lokman; Jahan, Yasmin; Ashraf, Hasan; Howie, Stephen R. C.; Ebruke, Bernard E.; Antonio, Martin; McLellan, Jessica; Machuka, Eunice; Shamsul, Arifin; Zaman, Syed M.A.; Mackenzie, Grant; Scott, J. Anthony G.; Awori, Juliet O.; Morpeth, Susan C.; Kamau, Alice; Kazungu, Sidi; Ominde, Micah Silaba; Kotloff, Karen L.; Tapia, Milagritos D.; Sow, Samba O.; Sylla, Mamadou; Tamboura, Boubou; Onwuchekwa, Uma; Kourouma, Nana; Toure, Aliou; Madhi, Shabir A.; Moore, David P.; Adrian, Peter V.; Baillie, Vicky L.; Kuwanda, Locadiah; Mudau, Azwifarwi; Groome, Michelle J.; Mahomed, Nasreen; Baggett, Henry C.; Thamthitiwat, Somsak; Maloney, Susan A.; Bunthi, Charatdao; Rhodes, Julia; Sawatwong, Pongpun; Akarasewi, Pasakorn; Thea, Donald M.; Mwananyanda, Lawrence; Chipeta, James; Seidenberg, Phil; Mwansa, James; wa Somwe, Somwe; Kwenda, Geoffrey

2017-01-01

Abstract Background. Chest radiographs (CXRs) are frequently used to assess pneumonia cases. Variations in CXR appearances between epidemiological settings and their correlation with clinical signs are not well documented. Methods. The Pneumonia Etiology Research for Child Health project enrolled 4232 cases of hospitalized World Health Organization (WHO)–defined severe and very severe pneumonia from 9 sites in 7 countries (Bangladesh, the Gambia, Kenya, Mali, South Africa, Thailand, and Zambia). At admission, each case underwent a standardized assessment of clinical signs and pneumonia risk factors by trained health personnel, and a CXR was taken that was interpreted using the standardized WHO methodology. CXRs were categorized as abnormal (consolidation and/or other infiltrate), normal, or uninterpretable. Results. CXRs were interpretable in 3587 (85%) cases, of which 1935 (54%) were abnormal (site range, 35%–64%). Cases with abnormal CXRs were more likely than those with normal CXRs to have hypoxemia (45% vs 26%), crackles (69% vs 62%), tachypnea (85% vs 80%), or fever (20% vs 16%) and less likely to have wheeze (30% vs 38%; all P < .05). CXR consolidation was associated with a higher case fatality ratio at 30-day follow-up (13.5%) compared to other infiltrate (4.7%) or normal (4.9%) CXRs. Conclusions. Clinically diagnosed pneumonia cases with abnormal CXRs were more likely to have signs typically associated with pneumonia. However, CXR-normal cases were common, and clinical signs considered indicative of pneumonia were present in substantial proportions of these cases. CXR-consolidation cases represent a group with an increased likelihood of death at 30 days post-discharge. PMID:28575361

[Etiologic classification of cerebral infarct. Experience from a prospective data register].

PubMed

Brainin, M

1990-12-01

Most classifications of stroke include clinically heterogeneous subgroups and therefore are of limited value for comparative studies or clinical protocols. The view is held that a classification according to stroke etiology is clinically more reasonable and more consistent for therapeutic strategies. In order to determine the frequency of various etiological subgroups in a series of stroke cases, the results of the Klosterneuburger Schlaganfall-Datenbank (KSDB) are reported. This stroke registry has prospectively recorded over 300 items on all stroke cases referred to one center since March 1988. Investigation rates include CT in almost 100% and the investigation of cerebral vessels in over 90% of all cases. By applying defined etiological categories (undetermined etiology, atherosclerosis of the large craniocervical vessels, cardiogenic embolism, lacunar, primary hemorrhage, and multiple and other causes) to the first 420 patients registered within the first two years it can be shown that even with CT and neurosonology in routine use, in 29% of all cases the cause of the stroke cannot be determined. To investigate this largest subgroup by means of additional new methods as well as by investigating the long-term natural course represents an important challenge for clinical stroke research.

The gap between dental education and clinical treatment in temporomandibular disorders and orofacial pain.

PubMed

Steenks, M H

2007-07-01

Implementation of research findings in patient care ideally will follow in a continuous cycle, and clinical questions from practitioners should stimulate research. Even in the most optimal situations, there will be a gap between the steady flow of new findings from research and their eventual implementation in clinical practice. In the clinical practice of temporomandibular disorders and orofacial pain (TMD/OFP) simple cases outnumber the more complex cases by far. Therefore, research implications for the general dental practitioner, whose patients are rarely represented in research populations, may differ from what is published and taught. Treatment options like counselling, occlusal treatments (reversible as a rule and irreversible by exception) and physiotherapy can be very successful in the hands of the general dental practitioner. European dental schools should define additional amendments to the recently proposed profile and competencies for the European dentist, in order to focus on the relevant and current knowledge on temporomandibular disorders and orofacial pain. These amendments should address the adequate diagnosis and management of non-complex TMD cases and the need to refer to a TMD/OFP specialist in complex cases. Professional organizations such as the European Academy of Craniomandibular disorders can endorse better TMD/OFP education and training.

Bayesian survival analysis in clinical trials: What methods are used in practice?

PubMed

Brard, Caroline; Le Teuff, Gwénaël; Le Deley, Marie-Cécile; Hampson, Lisa V

2017-02-01

Background Bayesian statistics are an appealing alternative to the traditional frequentist approach to designing, analysing, and reporting of clinical trials, especially in rare diseases. Time-to-event endpoints are widely used in many medical fields. There are additional complexities to designing Bayesian survival trials which arise from the need to specify a model for the survival distribution. The objective of this article was to critically review the use and reporting of Bayesian methods in survival trials. Methods A systematic review of clinical trials using Bayesian survival analyses was performed through PubMed and Web of Science databases. This was complemented by a full text search of the online repositories of pre-selected journals. Cost-effectiveness, dose-finding studies, meta-analyses, and methodological papers using clinical trials were excluded. Results In total, 28 articles met the inclusion criteria, 25 were original reports of clinical trials and 3 were re-analyses of a clinical trial. Most trials were in oncology (n = 25), were randomised controlled (n = 21) phase III trials (n = 13), and half considered a rare disease (n = 13). Bayesian approaches were used for monitoring in 14 trials and for the final analysis only in 14 trials. In the latter case, Bayesian survival analyses were used for the primary analysis in four cases, for the secondary analysis in seven cases, and for the trial re-analysis in three cases. Overall, 12 articles reported fitting Bayesian regression models (semi-parametric, n = 3; parametric, n = 9). Prior distributions were often incompletely reported: 20 articles did not define the prior distribution used for the parameter of interest. Over half of the trials used only non-informative priors for monitoring and the final analysis (n = 12) when it was specified. Indeed, no articles fitting Bayesian regression models placed informative priors on the parameter of interest. The prior for the treatment effect was based on historical data in only four trials. Decision rules were pre-defined in eight cases when trials used Bayesian monitoring, and in only one case when trials adopted a Bayesian approach to the final analysis. Conclusion Few trials implemented a Bayesian survival analysis and few incorporated external data into priors. There is scope to improve the quality of reporting of Bayesian methods in survival trials. Extension of the Consolidated Standards of Reporting Trials statement for reporting Bayesian clinical trials is recommended.

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.

A dynamic case definition is warranted for adequate notification in an extended epidemic setting: the Dutch Q fever outbreak 2007-2009 as exemplar.

PubMed

Jaramillo-Gutierrez, G; Wegdam-Blans, M C; ter Schegget, R; Korbeeck, J M; van Aken, R; Bijlmer, H A; Tjhie, J H; Koopmans, M P

2013-10-10

Q fever is a notifiable disease in the Netherlands:laboratories are obliged to notify possible cases to the Municipal Health Services. These services then try to reconfirm cases with additional clinical and epidemiological data and provide anonymised reports to the national case register of notifiable diseases. Since the start of the 2007–2009 Dutch Q fever outbreak,notification rules remained unchanged, despite new laboratory insights and altered epidemiology. In this study, we retrospectively analysed how these changes influenced the proportion of laboratory-defined acute Q fever cases (confirmed, probable and possible)that were included in the national case register, during(2009) and after the outbreak (2010 and 2011).The number of laboratory-defined cases notified to the Municipal Health Services was 377 in 2009, 96 in 2010 and 50 in 2011. Of these, 186 (49.3%) in 2009, 12(12.5%) in 2010 and 9 (18.0%) in 2011 were confirmed as acute infection by laboratory interpretation. The proportion of laboratory-defined acute Q fever cases that was reconfirmed by the Municipal Health Services and that were included in the national case register decreased from 90% in 2009, to 22% and 24% in 2010 and 2011, respectively. The decrease was observed in all categories of cases, including those considered to be confirmed by laboratory criteria. Continued use ofa pre-outbreak case definition led to over-reporting of cases to the Municipal Health Services in the post-epidemic years. Therefore we recommend dynamic laboratory notification rules, by reviewing case definitions periodically in an ongoing epidemic, as in the Dutch Q fever outbreak.

A Large Outbreak of Hepatitis C Virus Infections in a Hemodialysis Clinic.

PubMed

Nguyen, Duc B; Gutowski, Jennifer; Ghiselli, Margherita; Cheng, Tabitha; Bel Hamdounia, Shadia; Suryaprasad, Anil; Xu, Fujie; Moulton-Meissner, Heather; Hayden, Tonya; Forbi, Joseph C; Xia, Guo-Liang; Arduino, Matthew J; Patel, Ami; Patel, Priti R

2016-02-01

BACKGROUND In November and December 2012, 6 patients at a hemodialysis clinic were given a diagnosis of new hepatitis C virus (HCV) infection. OBJECTIVE To investigate the outbreak to identify risk factors for transmission. METHODS A case patient was defined as a patient who was HCV-antibody negative on clinic admission but subsequently was found to be HCV-antibody positive from January 1, 2008, through April 30, 2013. Patient charts were reviewed to identify and describe case patients. The hypervariable region 1 of HCV from infected patients was tested to assess viral genetic relatedness. Infection control practices were evaluated via observations. A forensic chemiluminescent agent was used to identify blood contamination on environmental surfaces after cleaning. RESULTS Eighteen case patients were identified at the clinic from January 1, 2008, through April 30, 2013, resulting in an estimated 16.7% attack rate. Analysis of HCV quasispecies identified 4 separate clusters of transmission involving 11 case patients. The case patients and previously infected patients in each cluster were treated in neighboring dialysis stations during the same shift, or at the same dialysis station on 2 consecutive shifts. Lapses in infection control were identified. Visible and invisible blood was identified on multiple surfaces at the clinic. CONCLUSIONS Epidemiologic and laboratory data confirmed transmission of HCV among numerous patients at the dialysis clinic over 6 years. Infection control breaches were likely responsible. This outbreak highlights the importance of rigorous adherence to recommended infection control practices in dialysis settings.

A Large Outbreak of Hepatitis C Virus Infections in a Hemodialysis Clinic

PubMed Central

Nguyen, Duc B.; Gutowski, Jennifer; Ghiselli, Margherita; Cheng, Tabitha; Hamdounia, Shadia Bel; Suryaprasad, Anil; Xu, Fujie; Moulton-Meissner, Heather; Hayden, Tonya; Forbi, Joseph C.; Xia, Guo-liang; Arduino, Matthew J.; Patel, Ami; Patel, Priti R.

2016-01-01

BACKGROUND In November and December 2012, 6 patients at a hemodialysis clinic were given a diagnosis of new hepatitis C virus (HCV) infection. OBJECTIVE To investigate the outbreak to identify risk factors for transmission. METHODS A case patient was defined as a patient who was HCV-antibody negative on clinic admission but subsequently was found to be HCV-antibody positive from January 1, 2008, through April 30, 2013. Patient charts were reviewed to identify and describe case patients. The hypervariable region 1 of HCV from infected patients was tested to assess viral genetic relatedness. Infection control practices were evaluated via observations. A forensic chemiluminescent agent was used to identify blood contamination on environmental surfaces after cleaning. RESULTS Eighteen case patients were identified at the clinic from January 1, 2008, through April 30, 2013, resulting in an estimated 16.7% attack rate. Analysis of HCV quasispecies identified 4 separate clusters of transmission involving 11 case patients. The case patients and previously infected patients in each cluster were treated in neighboring dialysis stations during the same shift, or at the same dialysis station on 2 consecutive shifts. Lapses in infection control were identified. Visible and invisible blood was identified on multiple surfaces at the clinic. CONCLUSIONS Epidemiologic and laboratory data confirmed transmission of HCV among numerous patients at the dialysis clinic over 6 years. Infection control breaches were likely responsible. This outbreak highlights the importance of rigorous adherence to recommended infection control practices in dialysis settings. PMID:26573412

MYC immunohistochemical and cytogenetic analysis are required for identification of clinically relevant aggressive B cell lymphoma subtypes.

PubMed

Raess, Philipp W; Moore, Stephen R; Cascio, Michael J; Dunlap, Jennifer; Fan, Guang; Gatter, Ken; Olson, Susan B; Braziel, Rita M

2018-06-01

Accurate subclassification of aggressive B cell lymphomas (ABCLs) requires integration of morphologic, immunohistochemical (IHC), and cytogenetic information. Optimal strategies have not been well defined for diagnosis of high grade B cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements (HGBLwR) and double expressor lymphomas with MYC and BCL2 protein overexpression. One hundred and eighty seven ABCLs were investigated with complete IHC and FISH analysis. Morphologic and IHC analysis was insufficient to identify clinically relevant HGBLwR. Approximately, 75% of cases classified as HGBLwR showed conventional DLBCL morphologic features. Fourteen percent of MYC-rearranged cases were negative by IHC. Conversely, 60% of cases positive for MYC by IHC did not demonstrate a MYC rearrangement. Analysis by FISH without MYC and BCL2 IHC would miss 41 cases of double expressor lymphoma. Complete IHC and FISH analysis is recommended in the evaluation of all ABCLs.

New-onset asthma after exposure to the steam system additive 2-diethylaminoethanol. A descriptive study.

PubMed

Gadon, M E; Melius, J M; McDonald, G J; Orgel, D

1994-06-01

Through a leak in the steam heating system, the anticorrosive agent 2-diethylaminoethanol was released into the air of a large office building. Irritative symptoms were experienced by most of the 2500 employees, and 14 workers developed asthma within 3 months of exposure. This study was undertaken to review clinical characteristics of these asthmatics. Environmental exposure monitoring data and medical records were reviewed. Seven of 14 cases were defined as "confirmed" and 7 of 14 as "suspect," using the National Institute for Occupational Safety and Health surveillance case definition of occupational asthma. Spirometry was positive in 4 of 14 of the cases and peak flow testing in 10 of 14. Three cases were diagnosed on the basis of work-related symptoms and physical examination alone. The study suggests that acute exposure to the irritating steam additive 2-diethylaminoethanol was a contributing factor in the development of clinical asthma in this population.

[Fulminant Wilson's disease in Costa Rica. Clinico-pathological study of 7 cases].

PubMed

Herra, S A; Hevia, F J; Vargas, M; Schosinsky, K

1990-01-01

In the last eighteen years, from 1972 to 1989, around 150 cases of Wilson's disease have been diagnosed in Costa Rica (6/100.000 inhabitants). In the San Juan de Dios Hospital, 120 cases have been studied during this period, seven of whom died with a picture of acute hepatic insufficiency, hemolytic anemia, encephalopathy, intestinal bleeding and renal insufficiency. In four of the cases, postmortem histopathologic studies were done with high resolution microscopy, which revealed extensive submassive necrosis of the liver, with severe cholestatic, lytic and acidophilic necrosis with nodular, irregular regeneration and specially microvacuolar steatosis, different from that observed in other forms of fulminant hepatitis. With the clinical, laboratory and histopathologic findings, we concluded that fulminant Wilson's disease is a well-defined pathological clinical entity of fatal evolution with no response to therapy, including early treatment with penicillamine and steroids.

Mycotic Infections Acquired outside Areas of Known Endemicity, United States.

PubMed

Benedict, Kaitlin; Thompson, George R; Deresinski, Stan; Chiller, Tom

2015-11-01

In the United States, endemic mycoses--blastomycosis, coccidioidomycosis, and histoplasmosis--pose considerable clinical and public health challenges. Although the causative fungi typically exist within broadly defined geographic areas or ecologic niches, some evidence suggests that cases have occurred in humans and animals not exposed to these areas. We describe cases acquired outside regions of traditionally defined endemicity. These patients often have severe disease, but diagnosis may be delayed because of a low index of suspicion for mycotic disease, and many more cases probably go entirely undetected. Increased awareness of these diseases, with a specific focus on their potential occurrence in unusual areas, is needed. Continued interdisciplinary efforts to reevaluate and better describe areas of true endemicity are warranted, along with a more nuanced view of the notion of endemicity. The term "nonendemic" should be used with care; mycoses in such regions might more accurately be considered "not known to be endemic."

Mycotic Infections Acquired outside Areas of Known Endemicity, United States

PubMed Central

Thompson, George R.; Deresinski, Stan; Chiller, Tom

2015-01-01

In the United States, endemic mycoses—blastomycosis, coccidioidomycosis, and histoplasmosis—pose considerable clinical and public health challenges. Although the causative fungi typically exist within broadly defined geographic areas or ecologic niches, some evidence suggests that cases have occurred in humans and animals not exposed to these areas. We describe cases acquired outside regions of traditionally defined endemicity. These patients often have severe disease, but diagnosis may be delayed because of a low index of suspicion for mycotic disease, and many more cases probably go entirely undetected. Increased awareness of these diseases, with a specific focus on their potential occurrence in unusual areas, is needed. Continued interdisciplinary efforts to reevaluate and better describe areas of true endemicity are warranted, along with a more nuanced view of the notion of endemicity. The term “nonendemic” should be used with care; mycoses in such regions might more accurately be considered “not known to be endemic.” PMID:26485441

Cancer clinical trials in persons with HIV infection.

PubMed

Little, Richard F

2017-01-01

The era of modern HIV therapeutics is well underway. The cancer and infectious disease epidemiology of HIV disease has markedly altered as populations are availed to the benefits of antiretroviral therapy (ARV). The types of cancers occurring among those with HIV infection has broadened but the case burden in absolute numbers is very low relative to the background population. There are fewer incident cases of the AIDS-defining cancers (aggressive B-cell lymphomas, Kaposi's sarcoma, and cervical cancer). There is an increased risk for certain non-AIDS-defining cancers, but these occur somewhat sporadically relative to clinical trial enrollment. The changing epidemiology of cancer in HIV poses challenges as well as opportunities for participation of persons with HIV in cancer therapy clinical trials. There are excellent examples of cancer trials that inform cancer therapy for patients with HIV infection. Examples include those from HIV-specific trials and from trials mainly focused on the background population that included patients with HIV infection. Interpretation of clinical trials to guide therapy for those with HIV infection and cancer largely depends on data that does not include HIV-infected patients. The ability to extend clinical trial findings to populations not included in clinical trials remains problematic for a variety of populations, including those with HIV or AIDS. Careful prioritization of studies designed to bridge this gap is needed. However, there are published studies that serve as excellent examples bridging these gaps and the portfolio of cancer therapy trials underway will inform HIV and cancer better than at any time in the past.

The learning curve of robot-assisted laparoscopic fundoplication in children: a prospective evaluation and CUSUM analysis.

PubMed

Cundy, Thomas P; Rowland, Simon P; Gattas, Nicholas E; White, Alan D; Najmaldin, Azad S

2015-06-01

Fundoplication is a leading application of robotic surgery in children, yet the learning curve for this procedure (RF) remains ill-defined. This study aims to identify various learning curve transition points, using cumulative summation (CUSUM) analysis. A prospective database was examined to identify RF cases undertaken during 2006-2014. Time-based surgical process outcomes were evaluated, as well as clinical outcomes. A total of 57 RF cases were included. Statistically significant transitions beyond the learning phase were observed at cases 42, 34 and 37 for docking, console and total operating room times, respectively. A steep early learning phase for docking time was overcome after 12 cases. There were three Clavien-Dindo grade ≥ 3 complications, with two patients requiring redo fundoplication. We identified numerous well-defined learning curve trends to affirm that experience confers significant temporal improvements. Our findings highlight the value of the CUSUM method for learning curve evaluation. Copyright © 2014 John Wiley & Sons, Ltd.

Relevance of deep learning to facilitate the diagnosis of HER2 status in breast cancer

NASA Astrophysics Data System (ADS)

Vandenberghe, Michel E.; Scott, Marietta L. J.; Scorer, Paul W.; Söderberg, Magnus; Balcerzak, Denis; Barker, Craig

2017-04-01

Tissue biomarker scoring by pathologists is central to defining the appropriate therapy for patients with cancer. Yet, inter-pathologist variability in the interpretation of ambiguous cases can affect diagnostic accuracy. Modern artificial intelligence methods such as deep learning have the potential to supplement pathologist expertise to ensure constant diagnostic accuracy. We developed a computational approach based on deep learning that automatically scores HER2, a biomarker that defines patient eligibility for anti-HER2 targeted therapies in breast cancer. In a cohort of 71 breast tumour resection samples, automated scoring showed a concordance of 83% with a pathologist. The twelve discordant cases were then independently reviewed, leading to a modification of diagnosis from initial pathologist assessment for eight cases. Diagnostic discordance was found to be largely caused by perceptual differences in assessing HER2 expression due to high HER2 staining heterogeneity. This study provides evidence that deep learning aided diagnosis can facilitate clinical decision making in breast cancer by identifying cases at high risk of misdiagnosis.

Women with double primary cancers of the colorectum and endometrium: do they have Lynch syndrome?

PubMed

Song, Taejong; Kim, Min Kyu; Lee, Yoo-Young; Choi, Chel Hun; Kim, Tae-Joong; Lee, Jeong-Won; Bae, Duk-Soo; Kim, Byoung-Gie

2016-04-01

The aim of this study was to determine the clinical characteristics of women with double primary cancers of the colorectum and endometrium and assess the probability of Lynch syndrome. We identified 15 women with paraffin-embedded blocks available who were diagnosed, treated and followed for double primary colorectal and endometrial cancers at in a single institution between 1994 and 2014. If there was a family history that met the revised Amsterdam criteria for Lynch syndrome, the woman was considered to have 'clinically defined Lynch syndrome'. If immunohistochemical (IHC) loss of expression of mismatch repair genes (MLH1, MSH2, MSH6, or PMS2) or high microsatellite instability (MSI) was demonstrated in molecular testing, the case was considered 'suspected Lynch syndrome'. The incidence of clinically defined Lynch syndrome according to the revised Amsterdam criteria was 66% (8 of 15). All 8 of the women clinically diagnosed with Lynch syndrome had either abnormal IHC loss or MSI-high, indicating a suspected Lynch syndrome. Furthermore, 27% (4 of 15) experienced second primary colorectal cancer or other Lynch syndrome-related cancers. Overall, 66% (10 of 15) met the criteria for clinically defined Lynch syndrome or suspected Lynch syndrome. Based on our findings, a large percentage (66%) of women with double primary cancers of the colorectum and endometrium are likely to be diagnosed with Lynch syndrome. Copyright © 2015. Published by Elsevier Ireland Ltd.

Utility of routine psychological screening in the childhood cancer survivor clinic.

PubMed

Recklitis, Christopher; O'Leary, Tara; Diller, Lisa

2003-03-01

This study examined the utility of routine psychologic screening in a childhood cancer survivor clinic by evaluating patient acceptance, comparing subjects' symptoms to normative data, examining the utility of specific tests, and identifying risk factors associated with psychological distress. During their annual clinic visit, 101 adult survivors of childhood cancer (median age, 25 years) completed the Symptom Checklist 90 Revised (SCL-90), as well as the Short Form 36 (SF-36), Beck Depression Inventory (BDI), and one additional suicide question. Psychological distress was operationally defined according to the published SCL-90 clinical case rule, classifying subjects with a consistent pattern of symptom elevations as clinical cases. The majority of subjects (80%) completed the screening in less than 30 minutes and reported little (15%) or no (84%) distress. Sixty-four percent believed it would help "very much" or "moderately" in getting to know them, and 35% thought it would help "slightly." On the SCL-90, 32 subjects (31.7%) had a positive screen, indicating significant psychological distress. All subjects with clinically significant symptoms on the BDI and SF-36 Mental Health Scale were cases on the SCL-90 (case-positive). Suicidal symptoms were reported in 13.9% of the sample, all of whom were SCL-90 cases. In a logistic regression model, subjects' dissatisfaction with physical appearance, poor physical health, and treatment with cranial radiation were associated with psychological distress. Results demonstrate that routine psychological screening can be successfully integrated into the cancer survivor clinic and may be effective in identifying those survivors with significant distress who require further evaluation.

Current status and clinical association of beta-catenin with juvenile nasopharyngeal angiofibroma.

PubMed

Mishra, A; Singh, V; Verma, V; Pandey, S; Trivedi, R; Singh, H P; Kumar, S; Dwivedi, R C; Mishra, S C

2016-10-01

A possible role of the APC/beta-catenin pathway in the pathogenesis of sporadic juvenile nasopharyngeal angiofibroma has been suggested. This paper presents its current status and clinical association in our patients. A prospective observational study was conducted at King George Medical University and Central Drug Research Institute, in Lucknow, India. Western blot analysis was undertaken in 16 cases to examine beta-catenin expression. The clinical details were recorded along with follow up observations, to determine associations. Up-regulation of beta-catenin expression was seen in 69 per cent of cases. The clinical variables did not reveal significant differences between patients with extremes of expression (extreme under- vs over-expression). However, absent expression was shown exclusively in young adults aged over 18 years, while enhanced expression was associated with an altered facial profile. Although a beta-catenin association was seen in a subset of our sporadic juvenile nasopharyngeal angiofibroma cases, its expression was not homogeneous. This is in contrast to the Western literature that suggests a universal (homogenous) enhanced expression in the majority. Hence, further research is required to better define its molecular cascade.

Impact of the 13-Valent Pneumococcal Conjugate Vaccine on Clinical and Hypoxemic Childhood Pneumonia over Three Years in Central Malawi: An Observational Study

PubMed Central

McCollum, Eric D.; Nambiar, Bejoy; Deula, Rashid; Zadutsa, Beatiwel; Bondo, Austin; King, Carina; Beard, James; Liyaya, Harry; Mankhambo, Limangeni; Lazzerini, Marzia; Makwenda, Charles; Masache, Gibson; Bar-Zeev, Naor; Kazembe, Peter N.; Mwansambo, Charles; Lufesi, Norman; Costello, Anthony; Armstrong, Ben

2017-01-01

Background The pneumococcal conjugate vaccine’s (PCV) impact on childhood pneumonia during programmatic conditions in Africa is poorly understood. Following PCV13 introduction in Malawi in November 2011, we evaluated the case burden and rates of childhood pneumonia. Methods and Findings Between January 1, 2012-June 30, 2014 we conducted active pneumonia surveillance in children <5 years at seven hospitals, 18 health centres, and with 38 community health workers in two districts, central Malawi. Eligible children had clinical pneumonia per Malawi guidelines, defined as fast breathing only, chest indrawing +/- fast breathing, or, ≥1 clinical danger sign. Since pulse oximetry was not in the Malawi guidelines, oxygenation <90% defined hypoxemic pneumonia, a distinct category from clinical pneumonia. We quantified the pneumonia case burden and rates in two ways. We compared the period immediately following vaccine introduction (early) to the period with >75% three-dose PCV13 coverage (post). We also used multivariable time-series regression, adjusting for autocorrelation and exploring seasonal variation and alternative model specifications in sensitivity analyses. The early versus post analysis showed an increase in cases and rates of total, fast breathing, and indrawing pneumonia and a decrease in danger sign and hypoxemic pneumonia, and pneumonia mortality. At 76% three-dose PCV13 coverage, versus 0%, the time-series model showed a non-significant increase in total cases (+47%, 95% CI: -13%, +149%, p = 0.154); fast breathing cases increased 135% (+39%, +297%, p = 0.001), however, hypoxemia fell 47% (-5%, -70%, p = 0.031) and hospital deaths decreased 36% (-1%, -58%, p = 0.047) in children <5 years. We observed a shift towards disease without danger signs, as the proportion of cases with danger signs decreased by 65% (-46%, -77%, p<0.0001). These results were generally robust to plausible alternative model specifications. Conclusions Thirty months after PCV13 introduction in Malawi, the health system burden and rates of the severest forms of childhood pneumonia, including hypoxemia and death, have markedly decreased. PMID:28052071

Mifepristone in Italy: the case of a drug trapped between ethics and clinical practice.

PubMed

Banfi, Roberto; Pavone, Eleonora; Cerri, Rita; Menichetti, Monica

2007-08-01

In Italy mifepristone is not yet marketed. Gynaecologists in our hospital asked to use this medication as a less traumatic method for voluntary abortions. We followed the standard procedure defined by the Italian Health Ministry (IMH) for purchasing drugs from abroad but encountered several unexpected barriers. Starting from this case, this paper is aimed at identifying these barriers which we found to be not only professional, but also ethical, religious and moral.

Failed manual removal of the placenta after vaginal delivery.

PubMed

Bjurström, Johanna; Collins, Sally; Langhoff-Roos, Jens; Sundberg, Karin; Jørgensen, Annemette; Duvekot, Johannes J; Groenbeck, Lene

2018-02-01

A retained placenta after vaginal delivery where manual removal of placenta fails is a clinical challenge. We present six cases that illustrate the heterogeneity of the condition and discuss the etiology and terminology as well as the clinical management. Members of the European Working group on Abnormally Invasive Placenta (EW-AIP) were invited to report all recent cases of retained placenta that were not antenatally suspected to be abnormally adherent or invasive, but could not be removed manually despite several attempts. The six cases from Denmark, The Netherlands and the UK provide examples of various treatment strategies such as ultrasound-guided vaginal removal, removal of the placenta through a hysterotomy and just leaving the placenta in situ. The placentas were all retained, but it was only possible to diagnose abnormal invasion in the one case, which had a histopathological diagnosis of increta. Based on these cases we present a flow chart to aid clinical management for future cases. We need properly defined stringent terminology for the different types of retained placenta, as well as improved tools to predict and diagnose both abnormally invasive and abnormally adherent placenta. Clinicians need to be aware of the options available to them when confronted by the rare case of a retained placenta that cannot be removed manually in a hemodynamically stable patient.

Temporal trends in the systemic inflammatory response syndrome, sepsis, and medical coding of sepsis.

PubMed

Thomas, Benjamin S; Jafarzadeh, S Reza; Warren, David K; McCormick, Sandra; Fraser, Victoria J; Marschall, Jonas

2015-11-24

Recent reports using administrative claims data suggest the incidence of community- and hospital-onset sepsis is increasing. Whether this reflects changing epidemiology, more effective diagnostic methods, or changes in physician documentation and medical coding practices is unclear. We performed a temporal-trend study from 2008 to 2012 using administrative claims data and patient-level clinical data of adult patients admitted to Barnes-Jewish Hospital in St. Louis, Missouri. Temporal-trend and annual percent change were estimated using regression models with autoregressive integrated moving average errors. We analyzed 62,261 inpatient admissions during the 5-year study period. 'Any SIRS' (i.e., SIRS on a single calendar day during the hospitalization) and 'multi-day SIRS' (i.e., SIRS on 3 or more calendar days), which both use patient-level data, and medical coding for sepsis (i.e., ICD-9-CM discharge diagnosis codes 995.91, 995.92, or 785.52) were present in 35.3 %, 17.3 %, and 3.3 % of admissions, respectively. The incidence of admissions coded for sepsis increased 9.7 % (95 % CI: 6.1, 13.4) per year, while the patient data-defined events of 'any SIRS' decreased by 1.8 % (95 % CI: -3.2, -0.5) and 'multi-day SIRS' did not change significantly over the study period. Clinically-defined sepsis (defined as SIRS plus bacteremia) and severe sepsis (defined as SIRS plus hypotension and bacteremia) decreased at statistically significant rates of 5.7 % (95 % CI: -9.0, -2.4) and 8.6 % (95 % CI: -4.4, -12.6) annually. All-cause mortality, SIRS mortality, and SIRS and clinically-defined sepsis case fatality did not change significantly during the study period. Sepsis mortality, based on ICD-9-CM codes, however, increased by 8.8 % (95 % CI: 1.9, 16.2) annually. The incidence of sepsis, defined by ICD-9-CM codes, and sepsis mortality increased steadily without a concomitant increase in SIRS or clinically-defined sepsis. Our results highlight the need to develop strategies to integrate clinical patient-level data with administrative data to draw more accurate conclusions about the epidemiology of sepsis.

Primary Sjogren's syndrome with central nervous system involvement.

PubMed

Alhomoud, Iftetah A; Bohlega, Saeed A; Alkawi, Mohammed Z; Alsemari, Abdulaziz M; Omer, Saleh M; Alsenani, Fahmi M

2009-08-01

To describe the clinical, laboratory, and radiological features of Primary Sjogren's syndrome (PSS) with central nervous system (CNS) involvement. A retrospective case series of 12 female patients with PSS and CNS involvement at King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia from 1991-2009. The diagnosis of PSS is defined by the American-European Diagnostic Criteria. We analyzed the clinical, radiological, and immunological features. The mean age was 40 years (range 16-58 years); all patient were females and presented with active neurological symptoms. The neurological involvement preceded the classic sicca symptoms (33%). Eight patients (66%) presented with myelopathy, 9 patients (75%) had optic neuritis, and the rest had variable neurological signs. Immunological tests (anti-Sjogren's syndrome A and anti-Sjogren's syndrome B) were high in 7 patients (58%). Minor salivary gland biopsy revealed inflammatory cell infiltrate in 11 patients (92%). Brain MRI showed scattered white matter changes in 7 patients (58%). Spine MRI showed multiple foci of hyperintensity in T2-weighted image in 6 patients (50%), and long segment of hyperintensity at the cervical spinal cord in 2 patients (16%). Our findings demonstrate that CNS involvements in PSS have great clinical variability and could precede the classic sicca symptoms by years. Primary Sjogren's syndrome can mimic multiple sclerosis (primary progressive multiple sclerosis or relapsing remitting multiple sclerosis), therefore a screening test for PSS should be considered in suspected cases. A well-defined management protocol awaits studies with larger case numbers.

Analysis of clinical and food-borne isolates of Listeria monocytogenes in the United States by multilocus enzyme electrophoresis and application of the method to epidemiologic investigations.

PubMed Central

Bibb, W F; Gellin, B G; Weaver, R; Schwartz, B; Plikaytis, B D; Reeves, M W; Pinner, R W; Broome, C V

1990-01-01

To investigate the microbiology and epidemiology of the 1,700 sporadic cases of listeriosis that occur annually in the United States, we developed a multilocus enzyme electrophoresis (MEE) typing system for Listeria monocytogenes. We studied 390 isolates by MEE. Eighty-two electrophoretic types (ETs) were defined. Two distinct clusters of ETs, ET group A (ETGA) and ET group B (ETGB), separated at a genetic distance of 0.440, were identified. Strains of ETGB were associated with perinatal listeriosis (P = 0.03). All strains of H antigen type a were in ETGA, while all strains of H antigen type b were in ETGB. Among 328 clinical isolates from cases of literiosis, 55 ETs of L. monocytogenes were defined. Thirty-four ETs were identified among 62 isolates from food products. The mean number of strains per ET (5.2) was significantly higher among clinical isolates than among food-borne isolates. Examination of isolates from outbreaks further documented the link between cases and contaminated food products. In one investigation, we found 11 different ETs, ruling out a single common source as a cause of that outbreak. By examining a large number of isolates collected over a specified time in diverse geographic locations in the United States, we have begun to establish a baseline for the study of the epidemiology of listeriosis by MEE. PMID:2117880

Case definition for progressive multifocal leukoencephalopathy following treatment with monoclonal antibodies.

PubMed

Mentzer, Dirk; Prestel, Jürgen; Adams, Ortwin; Gold, Ralf; Hartung, Hans-Peter; Hengel, Hartmut; Kieseier, Bernd C; Ludwig, Wolf-Dieter; Keller-Stanislawski, Brigitte

2012-09-01

Novel immunosuppressive/modulating therapies with monoclonal antibodies (MABs) have been associated with progressive multifocal leukoencephalopathy (PML), a potentially fatal disease of the brain caused by the JC virus. Taking the complex diagnostic testing and heterogeneous clinical presentation of PML into account, an agreed case definition for PML is a prerequisite for a thorough assessment of PML. A working group was established to develop a standardised case definition for PML which permits data comparability across clinical trials, postauthorisation safety studies and passive postmarketing surveillance. The case definition is designed to define levels of diagnostic certainty of reported PML cases following treatment with MABs. It was subsequently used to categorise retrospectively suspected PML cases from Germany reported to the Paul-Ehrlich-Institute as the responsible national competent authority. The algorithm of the case definition is based on clinical symptoms, PCR for JC virus DNA in cerebrospinal fluid, brain MRI, and brain biopsy/autopsy. The case definition was applied to 119 suspected cases of PML following treatment with MABs and is considered to be helpful for case ascertainment of suspected PML cases for various MABs covering a broad spectrum of indications. Even if the available information is not yet complete, the case definition provides a level of diagnostic certainty. The proposed case definition permits data comparability among different medicinal products and among active as well as passive surveillance settings. It may form a basis for meaningful risk analysis and communication for regulators and healthcare professionals.

Prevalence and correlates of treatment failure among Kenyan children hospitalised with severe community-acquired pneumonia: a prospective study of the clinical effectiveness of WHO pneumonia case management guidelines.

PubMed

Agweyu, Ambrose; Kibore, Minnie; Digolo, Lina; Kosgei, Caroline; Maina, Virginia; Mugane, Samson; Muma, Sarah; Wachira, John; Waiyego, Mary; Maleche-Obimbo, Elizabeth

2014-11-01

To determine the extent and pattern of treatment failure (TF) among children hospitalised with community-acquired pneumonia at a large tertiary hospital in Kenya. We followed up children aged 2-59 months with WHO-defined severe pneumonia (SP) and very severe pneumonia (VSP) for up to 5 days for TF using two definitions: (i) documentation of pre-defined clinical signs resulting in change of treatment (ii) primary clinician's decision to change treatment with or without documentation of the same pre-defined clinical signs. We enrolled 385 children. The risk of TF varied between 1.8% (95% CI 0.4-5.1) and 12.4% (95% CI 7.9-18.4) for SP and 21.4% (95% CI 15.9-27) and 39.3% (95% CI 32.5-46.4) for VSP depending on the definition applied. Higher rates were associated with early changes in therapy by clinician in the absence of an obvious clinical rationale. Non-adherence to treatment guidelines was observed for 70/169 (41.4%) and 67/201 (33.3%) of children with SP and VSP, respectively. Among children with SP, adherence to treatment guidelines was associated with the presence of wheeze on initial assessment (P = 0.02), while clinician non-adherence to guideline-recommended treatments for VSP tended to occur in children with altered consciousness (P < 0.001). Using propensity score matching to account for imbalance in the distribution of baseline clinical characteristics among children with VSP revealed no difference in TF between those treated with the guideline-recommended regimen vs. more costly broad-spectrum alternatives [risk difference 0.37 (95% CI -0.84 to 0.51)]. Before revising current pneumonia case management guidelines, standardised definitions of TF and appropriate studies of treatment effectiveness of alternative regimens are required. © 2014 The Authors. Tropical Medicine & International Health published by John Wiley & Sons Ltd.

A treatment-oriented typology of self-identified hypersexuality referrals.

PubMed

Cantor, James M; Klein, Carolin; Lykins, Amy; Rullo, Jordan E; Thaler, Lea; Walling, Bobbi R

2013-07-01

Men and women have been seeking professional assistance to help control hypersexual urges and behaviors since the nineteenth century. Despite that the literature emphasizes that cases of hypersexuality are highly diverse with regard to clinical presentation and comorbid features, the major models for understanding and treating hypersexuality employ a "one size fits all" approach. That is, rather than identify which problematic behaviors might respond best to which interventions, existing approaches presume or assert without evidence that all cases of hypersexuality (however termed or defined) represent the same underlying problem and merit the same approach to intervention. The present article instead provides a typology of hypersexuality referrals that links individual clinical profiles or symptom clusters to individual treatment suggestions. Case vignettes are provided to illustrate the most common profiles of hypersexuality referral that presented to a large, hospital-based sexual behaviors clinic, including: (1) Paraphilic Hypersexuality, (2) Avoidant Masturbation, (3) Chronic Adultery, (4) Sexual Guilt, (5) the Designated Patient, and (6) better accounted for as a symptom of another condition.

Responder Status Criterion for Stepped Care Trauma-Focused Cognitive Behavioral Therapy for Young Children

PubMed Central

Salloum, Alison; Scheeringa, Michael S.; Cohen, Judith A.; Storch, Eric A.

2014-01-01

Background In order to develop Stepped Care Trauma-Focused Cognitive Behavioral Therapy (TF-CBT), a definition of early response/non-response is needed to guide decisions about the need for subsequent treatment. Objective The purpose of this article is to (1) establish criterion for defining an early indicator of response/nonresponse to the first step within Stepped Care TF-CBT, and (2) to explore the preliminary clinical utility of the early response/non-response criterion. Method Data from two studies were used: (1) treatment outcome data from a clinical trial in which 17 young children (ages 3 to 6 years) received therapist-directed CBT for children with PTSS were examined to empirically establish the number of posttraumatic stress symptoms to define early treatment response/non-response; and (2) three case examples with young children in Stepped Care TF-CBT were used to explore the utility of the treatment response criterion. Results For defining the responder status criterion, an algorithm of either 3 or fewer PTSS on a clinician-rated measure or being below the clinical cutoff score on a parent-rated measure of childhood PTSS, and being rated as improved, much improved or free of symptoms functioned well for determining whether or not to step up to more intensive treatment. Case examples demonstrated how the criterion were used to guide subsequent treatment, and that responder status criterion after Step One may or may not be aligned with parent preference. Conclusion Although further investigation is needed, the responder status criterion for young children used after Step One of Stepped Care TF-CBT appears promising. PMID:25663796

Giant radicular cyst of the maxilla

PubMed Central

Deshmukh, Jeevanand; Shrivastava, Ratika; Bharath, Kashetty Panchakshari; Mallikarjuna, Rachappa

2014-01-01

Radicular cysts are inflammatory odontogenic cysts of tooth bearing areas of the jaws. Most of these lesions involve the apex of offending tooth and appear as well-defined radiolucencies. Owing to its clinical characteristics similar to other more commonly occurring lesions in the oral cavity, differential diagnosis should include dentigerous cyst, ameloblastoma, odontogenic keratocyst, periapical cementoma and Pindborg tumour. The present case report documents a massive radicular cyst crossing the midline of the palate. Based on clinical, radiographical and histopathological findings, the present case was diagnosed as an infected radicular cyst. The clinical characteristics of this cyst could be considered as an interesting and unusual due to its giant nature. The lesion was surgically enucleated along with the extraction of the associated tooth; preservation of all other teeth and vital structures, without any postoperative complications and satisfactory healing, was achieved. PMID:24792022

The role of patient narratives in healthcare innovation: supporting translation and meaning making.

PubMed

Pedersen, Anne Reff

2016-01-01

The purpose of this paper is to investigate the process and impact of patient involvement in locally defined improvement projects in two hospital clinics. The paper particularly aims to examine how patient narratives, in the form of diaries and radio montage, help to create new insights into patient experience for healthcare professionals, and support professionals' enrolment and mobilisation in innovation projects. Two case studies were undertaken. These drew upon qualitative interviews with staff and participant observation during innovation workshops. Patient diaries and a recorded montage of patient voices were also collected. The findings illuminate translation processes in healthcare innovation and the emergence of meaning making process for staff through the active use of patient narratives. The paper highlights the critical role of meaning making as an enabler of patient-centred change processes in healthcare via: local clinic mangers defining problems and ideas; collecting and sharing patient narratives in innovation workshops; and healthcare professionals' interpretation of patient narratives supporting new insights into patient experience. This study demonstrates how healthcare professionals' meaning making can be supported by articulating, constructing, listening and interpreting patient narratives. The two cases demonstrate how patient narratives serve as reflective devices for healthcare professionals. This study presents a novel demonstration of the importance of patient narratives for translating healthcare innovation in a clinical practice setting.

Teicoplanin allergy - an emerging problem in the anaesthetic allergy clinic.

PubMed

Savic, L C; Garcez, T; Hopkins, P M; Harper, N J N; Savic, S

2015-10-01

Anaphylaxis to teicoplanin appears to be extremely rare, with only one confirmed case report worldwide. Two anaesthetic allergy clinics in the UK have received a number of suspected cases referred for investigation, and we present here the first case series of teicoplanin allergy. We investigated 20 cases of suspected teicoplanin allergy, identified from the two clinics over a period of two years. We devised a set of five criteria to categorize the certainty of their diagnosis. These included: (1) reaction within 15 min of administration of teicoplanin, (2) ≥2 features of anaphylaxis present, (3) positive skin testing or challenge testing, (4) raised serum mast cell tryptase (MCT), (5) alternative diagnosis excluded. Based on these criteria we defined the likelihood of IgE-mediated allergy to teicoplanin as: definite-met all criteria; probable-met criteria 1.2 and 5, plus 3 or 4; uncertain-met criteria 1.2 and 5; excluded- any others. We identified 7 'definite', 7 'probable' and 2 'uncertain' cases of teicoplanin allergy. Four cases were excluded. IgE-mediated anaphylaxis to teicoplanin appears to be more common than previously thought. This is true even if only definitive cases are considered. Investigation of teicoplanin allergy is hampered by the lack of standardized skin test concentrations. In some cases, there was a severe clinical reaction, but without any skin test evidence of histamine release. The mechanism of reaction in these cases is not known and requires further study. © The Author 2015. Published by Oxford University Press on behalf of the British Journal of Anaesthesia. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

[Amyloidosis maculosa: diagnosis in primary care].

PubMed

Toribio da Pena, S R; Olmos, O; Borbujo, J; Bastos Amigo, J A; Jiménez-Sánchez, F; Alonso, A

1990-01-01

Amyloidosis maculosa is a clinical entity with low incidence factor in our medium, which basically affects middle-aged women. The lesion is characterised by the presence of poorly defined, hyperpigmented, brownish or greyish maculae that converge and focus basically on the upper back and shoulders, usually accompanied by pruritus. Three patients were erroneously catalogued for years as having pityriasis versicolor. Two of these patients presented a typical clinical amyloidosis maculosa, and the third presented a less common manifestation of the disease: a single, well-defined lesion in the subscapular region. We believe that the approach to the diagnosis of pityriasis versicolor with hyperpigmented lesions that do not respond to specific treatment should be revised. Although amyloidosis maculosa has a low incidence in our medium, it is an entity which should not be discarded in these cases.

Radiological clinical trials: Proposal of a problem-finding questionnaire to improve study success.

PubMed

Valdora, Francesca; Bignotti, Bianca; Calabrese, Massimo; Houssami, Nehmat; Tagliafico, Alberto

2016-12-26

To develop a survey to help define the main problems in radiological clinical trials. Since 2006, we have managed seven different radiological clinical trials recruiting patients in academic and non-academic centres. We developed a preliminary questionnaire using a four-round Delphi approach to identify problems occurring in radiological clinical trials run at our centre. We investigated the recruitment experience, involvement of all multi-disciplinary team members and main obstacles to completing the projects. A final round of Delphi processes elucidated solutions to the identified problems. Among 19/20 (95%) respondents, 10 (53%) were young physicians (under 35 years old), and the respondents included non-faculty members, fellows, residents, and undergraduate students. Ninety-four percent (18/19) of respondents showed interest in conducting clinical trials. On a scale of 1 to 10, the problems with higher/worse scores (8-9) were related to technical or communication problems. The most frequent problems across all studies were technical problems related to clinical trial equipment, insufficient willingness to participate, obstacles to understanding the design of electronic-case report form and extra work. The developed questionnaire identified the main recurring problems in radiological clinical trials as perceived by end-users and helped define possible solutions that are mostly related to having dedicated clinical trial research staff.

Strategies in disability management. Corporate disability management programs implemented at the work site.

PubMed

Kalina, C M

1999-10-30

Managers are challenged to demonstrate all programs as economically essential to the business, generating an appreciable return on investment. Further challenge exists to blend and integrate clinical and business objectives in program development. Disability management programs must be viewed as economically essential to the financial success of the business to assure management support for clinical interventions and return-to-work strategies essential for a successful program. This paper discusses a disability management program integrating clinical and business goals and objectives in return-to-work strategies to effect positive clinical, social-cultural, and business results. Clinical, educational, social, and economic challenges in the development, implementation, and continued management of a disability program at a large corporation with multiple global work sites are defined. Continued discussion addresses the effective clinical interventions and educational strategies utilized successfully within the workplace environment in response to each defined challenge. A multiple disciplinary team approach, clinical and business outcome measures, and quality assurance indicators are discussed as major program components. This article discusses a successful program approach focusing on business process and methodology. These parameters are used to link resources to strategy, developing a product for implementing and managing a program demonstrating economic value added through effective clinical medical case management.

Clinical differences between nasal and extranasal natural killer/T-cell lymphoma: a study of 136 cases from the International Peripheral T-Cell Lymphoma Project.

PubMed

Au, Wing-yan; Weisenburger, Dennis D; Intragumtornchai, Tanin; Nakamura, Shigeo; Kim, Won-Seog; Sng, Ivy; Vose, Julie; Armitage, James O; Liang, Raymond

2009-04-23

Among 1153 new adult cases of peripheral/T-cell lymphoma from 1990-2002 at 22 centers in 13 countries, 136 cases (11.8%) of extranodal natural killer (NK)/T-cell lymphoma were identified (nasal 68%, extranasal 26%, aggressive/unclassifiable 6%). The disease frequency was higher in Asian than in Western countries and in Continental Asia than in Japan. There were no differences in age, sex, ethnicity, or immunophenotypic profile between the nasal and extranasal cases, but the latter had more adverse clinical features. The median overall survival (OS) was better in nasal compared with the extranasal cases in early- (2.96 vs 0.36 years, P < .001) and late-stage disease (0.8 vs 0.28 years, P = .031). The addition of radiotherapy for early-stage nasal cases yielded survival benefit (P = .045). Among nasal cases, both the International Prognostic Index (P = .006) and Korean NK/T-cell Prognostic Index (P < .001) were prognostic. In addition, Ki67 proliferation greater than 50%, transformed tumor cells greater than 40%, elevated C-reactive protein level (CRP), anemia (< 11 g/dL) and thrombocytopenia (< 150 x 10(9)/L) predicts poorer OS for nasal disease. No histologic or clinical feature was predictive in extranasal disease. We conclude that the clinical features and treatment response of extranasal NK/T-cell lymphoma are different from of those of nasal lymphoma. However, the underlying features responsible for these differences remain to be defined.

Comparison of the first three waves of avian influenza A(H7N9) virus circulation in the mainland of the People's Republic of China.

PubMed

Xiang, Nijuan; Iuliano, A Danielle; Zhang, Yanping; Ren, Ruiqi; Geng, Xingyi; Ye, Bili; Tu, Wenxiao; Li, Ch Ao; Lv, Yong; Yang, Ming; Zhao, Jian; Wang, Yali; Yang, Fuqiang; Zhou, Lei; Liu, Bo; Shu, Yuelong; Ni, Daxin; Feng, Zijian; Li, Qun

2016-12-05

H7N9 human cases were first detected in mainland China in March 2013. Circulation of this virus has continued each year shifting to typical winter months. We compared the clinical and epidemiologic characteristics for the first three waves of virus circulation. The first wave was defined as reported cases with onset dates between March 31-September 30, 2013, the second wave was defined as October 1, 2013-September 30, 2014 and the third wave was defined as October 1, 2014-September 30, 2015. We used simple descriptive statistics to compare characteristics of the three distinct waves of virus circulation. In mainland China, 134 cases, 306 cases and 219 cases were detected and reported in first three waves, respectively. The median age of cases was statistically significantly older in the first wave (61 years vs. 56 years, 56 years, p < 0.001) compared to the following two waves. Most reported cases were among men in all three waves. There was no statistically significant difference between case fatality proportions (33, 42 and 45%, respectively, p = 0.08). There were no significant statistical differences for time from illness onset to first seeking healthcare, hospitalization, lab confirmation, initiation antiviral treatment and death between the three waves. A similar percentage of cases in all waves reported exposure to poultry or live poultry markets (87%, 88%, 90%, respectively). There was no statistically significant difference in the occurrence of severe disease between the each of the first three waves of virus circulation. Twenty-one clusters were reported during these three waves (4, 11 and 6 clusters, respectively), of which, 14 were considered to be possible human-to-human transmission. Though our case investigation for the first three waves found few differences between the epidemiologic and clinical characteristics, there is continued international concern about the pandemic potential of this virus. Since the virus continues to circulate, causes more severe disease, has the ability to mutate and become transmissible from human-to-human, and there is limited natural protection from infection in communities, it is critical that surveillance systems in China and elsewhere are alert to the influenza H7N9 virus.

HTA decision support system for sustainable business continuity management in hospitals. The case of surgical activity at the University Hospital in Florence.

PubMed

Miniati, Roberto; Dori, Fabrizio; Cecconi, Giulio; Gusinu, Roberto; Niccolini, Fabrizio; Gentili, Guido Biffi

2013-01-01

A fundamental element of the social and safety function of a health structure is the need to guarantee continuity of clinical activity through the continuity of technology. This paper aims to design a Decision Support System (DSS) for medical technology evaluations based on the use of Key Performance Indicators (KPI) in order to provide a multi-disciplinary valuation of a technology in a health structure. The methodology used in planning the DSS followed the following key steps: the definition of relevant KPIs, the development of a database to calculate the KPIs, the calculation of the defined KPIs and the resulting study report. Finally, the clinical and economic validation of the system was conducted though a case study of Business Continuity applied in the operating department of the Florence University Hospital AOU Careggi in Italy. A web-based support system was designed for HTA in health structures. The case study enabled Business Continuity Management (BCM) to be implemented in a hospital department in relation to aspects of a single technology and the specific clinical process. Finally, an economic analysis of the procedure was carried out. The system is useful for decision makers in that it precisely defines which equipment to include in the BCM procedure, using a scale analysis of the specific clinical process in which the equipment is used. In addition, the economic analysis shows how the cost of the procedure is completely covered by the indirect costs which would result from the expenses incurred from a broken device, hence showing the complete auto-sustainability of the methodology.

Considering health equity when moving from evidence-based guideline recommendations to implementation: a case study from an upper-middle income country on the GRADE approach

PubMed Central

Mosquera, Paola; Alzate, Juan Pablo; Pottie, Kevin; Welch, Vivian; Akl, Elie A; Jull, Janet; Lang, Eddy; Katikireddi, Srinivasa Vittal; Morton, Rachel; Thabane, Lehana; Shea, Bev; Stein, Airton T; Singh, Jasvinder; Florez, Ivan D; Guyatt, Gordon; Schünemann, Holger; Tugwell, Peter

2017-01-01

Abstract The availability of evidence-based guidelines does not ensure their implementation and use in clinical practice or policy making. Inequities in health have been defined as those inequalities within or between populations that are avoidable, unnecessary and also unjust and unfair. Evidence-based clinical practice and public health guidelines (‘guidelines’) can be used to target health inequities experienced by disadvantaged populations, although guidelines may unintentionally increase health inequities. For this reason, there is a need for evidence-based clinical practice and public health guidelines to intentionally target health inequities experienced by disadvantaged populations. Current guideline development processes do not include steps for planned implementation of equity-focused guidelines. This article describes nine steps that provide guidance for consideration of equity during guideline implementation. A critical appraisal of the literature followed by a process to build expert consensus was undertaken to define how to include consideration of equity issues during the specific GRADE guideline development process. Using a case study from Colombia we describe nine steps that were used to implement equity-focused GRADE recommendations: (1) identification of disadvantaged groups, (2) quantification of current health inequities, (3) development of equity-sensitive recommendations, (4) identification of key actors for implementation of equity-focused recommendations, (5) identification of barriers and facilitators to the implementation of equity-focused recommendations, (6) development of an equity strategy to be included in the implementation plan, (7) assessment of resources and incentives, (8) development of a communication strategy to support an equity focus and (9) development of monitoring and evaluation strategies. This case study can be used as model for implementing clinical practice guidelines, taking into account equity issues during guideline development and implementation. PMID:29029068

Listerial keratoconjunctivitis and uveitis (silage eye).

PubMed

Erdogan, Hidayet Metin

2010-11-01

Listerial keratoconjunctivitis or silage eye has increasingly been reported in ruminants in recent years. Although the disease has always been associated with silage feeding, its cause, pathogenesis, and epidemiology remain to be fully disclosed. Clinical courses include signs of keratoconjunctivitis and uveitis and cases recover without any residual lesions after antibiotic therapy. More epidemiologic and clinical as well as experimental studies are required to determine this poorly defined condition so that preventive measures could be established. Copyright © 2010 Elsevier Inc. All rights reserved.

[Prevention of the refeeding syndrome].

PubMed

Martínez Núñez, Maria E; Hernández Muniesa, B

2010-01-01

The refeeding syndrome can be defined as the metabolic alterations developed by the rapid nutrition repletion (oral, enteral as well as parenteral feeding) of severaly malnourished patients. Refeeding syndrome is a potentially fatal clinical condition and it is often underdiagnosed on non-specialized nutrition units. The most important key for its prevention is to identify patients at high risk for developing refeeding syndrome, before nutrition repletion. The present case describes the steps to prevent the refeeding syndrome as well as the clinical recommendations to restart nutrition support.

Mutism as the Presenting Symptom: Three Case Reports and Selective Review of Literature

PubMed Central

Aggarwal, Ashish; Sharma, Dinesh Dutt; Kumar, Ramesh; Sharma, Ravi C.

2010-01-01

Mutism, defined as an inability or unwillingness to speak, resulting in an absence or marked paucity of verbal output, is a common clinical symptom seen in psychiatric as well as neurology outpatient department. It rarely presents as an isolated disability and often occurs in association with other disturbances in behavior, thought processes, affect, or level of consciousness. It is often a focus of clinical attention, both for the physician and the relatives. Mutism occurs in a number of conditions, both functional and organic, and a proper diagnosis is important for the management. We hereby present three cases, who presented with mutism as the presenting symptom and the differential diagnosis and management issues related to these cases are discussed. The authors also selectively reviewed the literature on mutism, including psychiatric, neurologic, toxic-metabolic, and drug-induced causes. PMID:21799563

Mutism as the presenting symptom: three case reports and selective review of literature.

PubMed

Aggarwal, Ashish; Sharma, Dinesh Dutt; Kumar, Ramesh; Sharma, Ravi C

2010-01-01

Mutism, defined as an inability or unwillingness to speak, resulting in an absence or marked paucity of verbal output, is a common clinical symptom seen in psychiatric as well as neurology outpatient department. It rarely presents as an isolated disability and often occurs in association with other disturbances in behavior, thought processes, affect, or level of consciousness. It is often a focus of clinical attention, both for the physician and the relatives. Mutism occurs in a number of conditions, both functional and organic, and a proper diagnosis is important for the management. We hereby present three cases, who presented with mutism as the presenting symptom and the differential diagnosis and management issues related to these cases are discussed. The authors also selectively reviewed the literature on mutism, including psychiatric, neurologic, toxic-metabolic, and drug-induced causes.

The Case of a Zebra That Was Misdiagnosed as a Horse: Pulmonary Tumor Thrombotic Microangiopathy, a New Paraneoplastic Syndrome, Mimicking PD-1-Induced Pneumonitis

PubMed Central

Carter, Corey A.; Browning, Robert; Oronsky, Bryan T.; Scicinski, Jan J.; Brzezniak, Christina

2016-01-01

A case report of a 47-year-old woman with triple-negative breast cancer on a clinical trial called PRIMETIME (NCT02518958) who received the anti-PD-1 inhibitor nivolumab and the experimental anticancer agent RRx-001 is presented. Although initially diagnosed and treated for anti-PD-1-induced pneumonitis, clinical and radiological abnormalities triggered further investigation, leading to the diagnosis of pulmonary tumor thrombotic microangiopathy (PTTM). This example highlights the importance of exercising due diligence in determining immune-related adverse events and suggests that PD-1-induced pneumonitis should be a diagnosis of exclusion rather than a diagnosis by default. A case history and review of the literature are presented for PTTM, which we propose to define as a paraneoplastic syndrome. PMID:26933422

The Case of a Zebra That Was Misdiagnosed as a Horse: Pulmonary Tumor Thrombotic Microangiopathy, a New Paraneoplastic Syndrome, Mimicking PD-1-Induced Pneumonitis.

PubMed

Carter, Corey A; Browning, Robert; Oronsky, Bryan T; Scicinski, Jan J; Brzezniak, Christina

2016-01-01

A case report of a 47-year-old woman with triple-negative breast cancer on a clinical trial called PRIMETIME (NCT02518958) who received the anti-PD-1 inhibitor nivolumab and the experimental anticancer agent RRx-001 is presented. Although initially diagnosed and treated for anti-PD-1-induced pneumonitis, clinical and radiological abnormalities triggered further investigation, leading to the diagnosis of pulmonary tumor thrombotic microangiopathy (PTTM). This example highlights the importance of exercising due diligence in determining immune-related adverse events and suggests that PD-1-induced pneumonitis should be a diagnosis of exclusion rather than a diagnosis by default. A case history and review of the literature are presented for PTTM, which we propose to define as a paraneoplastic syndrome.

[Effect of drug interaction between clopidogrel and omeprazole in hospital readmision of patients by a recurrent acute coronary syndrome: a case-control study].

PubMed

Amariles, Pedro; Holguín, Héctor; Angulo, Nancy Yaneth; Betancourth, Piedad Maria; Ceballos, Mauricio

2014-10-01

To evaluate the effect of drug interaction between omeprazol and clopidogrel in hospital readmission of patients with acute coronary syndrome (ACS). Case-control study. University Clinic LeonXIII, Medellin, Colombia. We selected from a prevalent population, between 2009-2010, use of clopidogrel patients on an outpatient basis (less than one year and more than 30days), and hospital stay for ACS or the presence of a previous ACS. A case-patient was defined as one who had a recurrence of ACS and a patient-control is defined as one that no recurrence of ACS. Both groups used ambulatory prior clopidogrel due to ACS. As defined risk factor the joint use of omeprazole and clopidogrel outpatients. During the study, 1680patients clopidogrel formulated. This group identified 50cases readmitted with ACS and 76controls. No statistically significant association was found between use of clopidogrel-omeprazole and increased risk of hospital readmission for ACS (OR: 1.05; 95%CI: 0.516-2.152; P=.8851). In this small group of patients with previous SCA, the simultaneous use of clopidogrel with omeprazole does not increase the risk of a readmission by recurrence of this type of coronary event. Copyright © 2013 Elsevier España, S.L.U. All rights reserved.

Defining Staged Procedures for Percutaneous Coronary Intervention Trials: A Guidance Document.

PubMed

Spitzer, Ernest; McFadden, Eugène; Vranckx, Pascal; de Vries, Ton; Ren, Ben; Collet, Carlos; Onuma, Yoshinobu; Garcia-Garcia, Hector M; Lopes, Renato D; Stone, Gregg W; Cutlip, Donald E; Serruys, Patrick W

2018-05-14

Patients in coronary intervention trials may require more than 1 procedure to complete the intended revascularization strategy. However, these staged interventions are not consistently defined. Standardized definitions are needed to allow meaningful comparisons of this outcome among trials. This document provides guidance on relevant parameters involving staged procedures, including minimum data collection and consistent classification of coronary procedures initially identified as staged; the aim is to achieve consistency among clinical trialists, sponsors, health authorities, and regulators. Definitions were developed jointly among representatives of academic institutions and clinical research organizations based on clinical trial experience and published literature. Reasons for staged procedures were identified and include baseline kidney function, contrast load and radiation exposure, lesion complexity, and patient or operator fatigue. Moreover, nonclinical reasons include procedure scheduling and reimbursement. Management of staged procedures should be a standalone section in clinical trial protocols and clinical events committee charters. These documents should clearly define a time window for staged procedures that allows latitude for local policies, while respecting accepted clinical guidelines, and consistency with study objectives. Investigators should document in the case report form the intent to stage a procedure, the lesions to be treated, and the reasons for staging, preferably before randomization. Ideally, all reinterventions, or at least all procedures performed after the recommended time window, those in which data suggest an anticipated procedure due to a worsening condition and those where a revascularization is attempted in the target vessel, should be reviewed by an independent clinical events committee. Copyright © 2018 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk.

PubMed

West, Allison H; Blazer, Kathleen R; Stoll, Jessica; Jones, Matthew; Weipert, Caroline M; Nielsen, Sarah M; Kupfer, Sonia S; Weitzel, Jeffrey N; Olopade, Olufunmilayo I

2018-02-14

Comprehensive genomic cancer risk assessment (GCRA) helps patients, family members, and providers make informed choices about cancer screening, surgical and chemotherapeutic risk reduction, and genetically targeted cancer therapies. The increasing availability of multigene panel tests for clinical applications allows testing of well-defined high-risk genes, as well as moderate-risk genes, for which the penetrance and spectrum of cancer risk are less well characterized. Moderate-risk genes are defined as genes that, when altered by a pathogenic variant, confer a 2 to fivefold relative risk of cancer. Two such genes included on many comprehensive cancer panels are the DNA repair genes ATM and CHEK2, best known for moderately increased risk of breast cancer development. However, the impact of screening and preventative interventions and spectrum of cancer risk beyond breast cancer associated with ATM and/or CHEK2 variants remain less well characterized. We convened a large, multidisciplinary, cross-sectional panel of GCRA clinicians to review challenging, peer-submitted cases of patients identified with ATM or CHEK2 variants. This paper summarizes the inter-professional case discussion and recommendations generated during the session, the level of concordance with respect to recommendations between the academic and community clinician participants for each case, and potential barriers to implementing recommended care in various practice settings.

Intraosseous schwannoma in schwannomatosis.

PubMed

Kashima, T G; Gibbons, M R J P; Whitwell, D; Gibbons, C L M H; Bradley, K M; Ostlere, S J; Athanasou, N A

2013-12-01

This study investigates the clinical, radiological, and pathological features of two cases of intraosseous schwannoma that arose in patients with multiple soft tissue schwannomas. In both cases, the patients were adult females and the tibial bone was affected. Vestibular schwannomas were not identified, indicating that these were not cases of neurofibromatosis 2 (NF2). Radiographs showed a well-defined lytic lesion in the proximal tibia; in one case, this was associated with a pathological fracture. Histologically, both cases showed typical features of benign schwannoma. Molecular analysis of one of the excised tumors showed different alterations in the NF2 gene in keeping with a diagnosis of schwannomatosis. Our findings show for the first time that intraosseous schwannomas can occur in schwannomatosis.

A self-scaling, distributed information architecture for public health, research, and clinical care.

PubMed

McMurry, Andrew J; Gilbert, Clint A; Reis, Ben Y; Chueh, Henry C; Kohane, Isaac S; Mandl, Kenneth D

2007-01-01

This study sought to define a scalable architecture to support the National Health Information Network (NHIN). This architecture must concurrently support a wide range of public health, research, and clinical care activities. The architecture fulfils five desiderata: (1) adopt a distributed approach to data storage to protect privacy, (2) enable strong institutional autonomy to engender participation, (3) provide oversight and transparency to ensure patient trust, (4) allow variable levels of access according to investigator needs and institutional policies, (5) define a self-scaling architecture that encourages voluntary regional collaborations that coalesce to form a nationwide network. Our model has been validated by a large-scale, multi-institution study involving seven medical centers for cancer research. It is the basis of one of four open architectures developed under funding from the Office of the National Coordinator of Health Information Technology, fulfilling the biosurveillance use case defined by the American Health Information Community. The model supports broad applicability for regional and national clinical information exchanges. This model shows the feasibility of an architecture wherein the requirements of care providers, investigators, and public health authorities are served by a distributed model that grants autonomy, protects privacy, and promotes participation.

Efficacy of florfenicol for treatment of clinical and subclinical bovine mastitis.

PubMed

Wilson, D J; Sears, P M; Gonzalez, R N; Smith, B S; Schulte, H F; Bennett, G J; Das, H H; Johnson, C K

1996-04-01

To evaluate efficacy of florfenicol treatment for bovine mastitis caused by Streptococcus agalactiae, Staphylococcus aureus nonagalactiae streptococci, coagulase-negative staphylococci, Escherichia coli, Klebsiella sp, and others. Double blind study with cases randomly assigned to 1 of 2 treatment groups. 861 cows/10 commercial dairy farms. Experimental (750 mg of florfenicol) or control (200 mg of cloxacillin) treatment was administered by intramammary infusion every 12 hours for 3 treatment to all cases. Treatments were randomly assigned identified only by numerical labels. To retain blinding, the longer withdrawal time was adhered to for all cases. Cases remained in the study only if there was no other treatment. Quarter samples were recultured 14, 21, and 28 days later. If all samples after day 1 were culture negative, the case was defined as cured. If only 1 of the follow-up results was positive, the case was considered cured if the day-28 somatic cell count was < 300,000/ ml. Failure of treatment was defined as 2 or more culture positive follow-up samples. Florfenicol and cloxacillin did not differ significantly in efficacy versus clinical (n = 85) or subclinical (n = 71) bovine mastitis, or for any etiologic agent (X2). Overall cure rates for mastitis were: Str agalactiae, 5 of 8 (63%); Sta aureus, 5 of 54 (9%); Streptococcus sp, 16 of 35 (46%); Staphylococcus sp, 7 of 33 (21%); E coli, 5 of 11 (46%); Klebsiella sp, 3 of 6 (50%); others, 1 of 9 (11%); and all cases, 42 of 156 (27%). Florfenicol did not offer any advantage over cloxacillin in efficacy against bovine mastitis. Overall cure rates were low. As with most mastitis treatment regimens poor efficacy may be partly attributable to the short duration of treatment.

Limitations of malaria reactive case detection in an area of low and unstable transmission on the Myanmar-Thailand border.

PubMed

Parker, Daniel M; Landier, Jordi; von Seidlein, Lorenz; Dondorp, Arjen; White, Lisa; Hanboonkunupakarn, Borimas; Maude, Richard J; Nosten, François H

2016-11-25

Reactive case detection is an approach that has been proposed as a tool for malaria elimination in low-transmission settings. It is an intuitively justified approach based on the concept of space-time clustering of malaria cases. When an index malaria clinical case is detected, it triggers reactive screening and treatment in the index house and neighbouring houses. However, the efficacy of this approach at varying screening radii and malaria prevalence remains ill defined. Data were obtained from a detailed demographic and geographic surveillance study in four villages on the Myanmar-Thailand border. Clinical cases were recorded at village malaria clinics and were linked back to patients' residencies. These data were used to simulate the efficacy of reactive case detection for clinical cases using rapid diagnostic tests (RDT). Simulations took clinical cases in a given month and tabulated the number of cases that would have been detected in the following month at varying screening radii around the index houses. Simulations were run independently for both falciparum and vivax malaria. Each simulation of a reactive case detection effort was run in comparison with a strategy using random selection of houses for screening. In approximately half of the screenings for falciparum and 10% for vivax it would have been impossible to detect any malaria cases regardless of the screening strategy because the screening would have occurred during times when there were no cases. When geographically linked cases were present in the simulation, reactive case detection would have only been successful at detecting most malaria cases using larger screening radii (150-m radius and above). At this screening radius and above, reactive case detection does not perform better than random screening of an equal number of houses in the village. Screening within very small radii detects only a very small proportion of cases, but despite this low performance is better than random screening with the same sample size. The results of these simulations indicate that reactive case detection for clinical cases using RDTs has limited ability in halting transmission in regions of low and unstable transmission. This is linked to high spatial heterogeneity of cases, acquisition of malaria infections outside the village, as well missing asymptomatic infections. When cases are few and sporadic, reactive case detection would result in major time and budgetary losses.

Reproducible diagnosis of chronic lymphocytic leukemia by flow cytometry: An European Research Initiative on CLL (ERIC) & European Society for Clinical Cell Analysis (ESCCA) Harmonisation project.

PubMed

Rawstron, Andy C; Kreuzer, Karl-Anton; Soosapilla, Asha; Spacek, Martin; Stehlikova, Olga; Gambell, Peter; McIver-Brown, Neil; Villamor, Neus; Psarra, Katherina; Arroz, Maria; Milani, Raffaella; de la Serna, Javier; Cedena, M Teresa; Jaksic, Ozren; Nomdedeu, Josep; Moreno, Carol; Rigolin, Gian Matteo; Cuneo, Antonio; Johansen, Preben; Johnsen, Hans E; Rosenquist, Richard; Niemann, Carsten Utoft; Kern, Wolfgang; Westerman, David; Trneny, Marek; Mulligan, Stephen; Doubek, Michael; Pospisilova, Sarka; Hillmen, Peter; Oscier, David; Hallek, Michael; Ghia, Paolo; Montserrat, Emili

2018-01-01

The diagnostic criteria for CLL rely on morphology and immunophenotype. Current approaches have limitations affecting reproducibility and there is no consensus on the role of new markers. The aim of this project was to identify reproducible criteria and consensus on markers recommended for the diagnosis of CLL. ERIC/ESCCA members classified 14 of 35 potential markers as "required" or "recommended" for CLL diagnosis, consensus being defined as >75% and >50% agreement, respectively. An approach to validate "required" markers using normal peripheral blood was developed. Responses were received from 150 participants with a diagnostic workload >20 CLL cases per week in 23/150 (15%), 5-20 in 82/150 (55%), and <5 cases per week in 45/150 (30%). The consensus for "required" diagnostic markers included: CD19, CD5, CD20, CD23, Kappa, and Lambda. "Recommended" markers potentially useful for differential diagnosis were: CD43, CD79b, CD81, CD200, CD10, and ROR1. Reproducible criteria for component reagents were assessed retrospectively in 14,643 cases from 13 different centers and showed >97% concordance with current approaches. A pilot study to validate staining quality was completed in 11 centers. Markers considered as "required" for the diagnosis of CLL by the participants in this study (CD19, CD5, CD20, CD23, Kappa, and Lambda) are consistent with current diagnostic criteria and practice. Importantly, a reproducible approach to validate and apply these markers in individual laboratories has been identified. Finally, a consensus "recommended" panel of markers to refine diagnosis in borderline cases (CD43, CD79b, CD81, CD200, CD10, and ROR1) has been defined and will be prospectively evaluated. © 2017 International Clinical Cytometry Society. © 2017 The Authors. Cytometry Part B: Clinical Cytometry published by Wiley Periodicals, Inc. on behalf of International Clinical Cytometry Society.

Chest Radiograph Findings in Childhood Pneumonia Cases From the Multisite PERCH Study.

PubMed

Fancourt, Nicholas; Deloria Knoll, Maria; Baggett, Henry C; Brooks, W Abdullah; Feikin, Daniel R; Hammitt, Laura L; Howie, Stephen R C; Kotloff, Karen L; Levine, Orin S; Madhi, Shabir A; Murdoch, David R; Scott, J Anthony G; Thea, Donald M; Awori, Juliet O; Barger-Kamate, Breanna; Chipeta, James; DeLuca, Andrea N; Diallo, Mahamadou; Driscoll, Amanda J; Ebruke, Bernard E; Higdon, Melissa M; Jahan, Yasmin; Karron, Ruth A; Mahomed, Nasreen; Moore, David P; Nahar, Kamrun; Naorat, Sathapana; Ominde, Micah Silaba; Park, Daniel E; Prosperi, Christine; Wa Somwe, Somwe; Thamthitiwat, Somsak; Zaman, Syed M A; Zeger, Scott L; O'Brien, Katherine L

2017-06-15

Chest radiographs (CXRs) are frequently used to assess pneumonia cases. Variations in CXR appearances between epidemiological settings and their correlation with clinical signs are not well documented. The Pneumonia Etiology Research for Child Health project enrolled 4232 cases of hospitalized World Health Organization (WHO)-defined severe and very severe pneumonia from 9 sites in 7 countries (Bangladesh, the Gambia, Kenya, Mali, South Africa, Thailand, and Zambia). At admission, each case underwent a standardized assessment of clinical signs and pneumonia risk factors by trained health personnel, and a CXR was taken that was interpreted using the standardized WHO methodology. CXRs were categorized as abnormal (consolidation and/or other infiltrate), normal, or uninterpretable. CXRs were interpretable in 3587 (85%) cases, of which 1935 (54%) were abnormal (site range, 35%-64%). Cases with abnormal CXRs were more likely than those with normal CXRs to have hypoxemia (45% vs 26%), crackles (69% vs 62%), tachypnea (85% vs 80%), or fever (20% vs 16%) and less likely to have wheeze (30% vs 38%; all P < .05). CXR consolidation was associated with a higher case fatality ratio at 30-day follow-up (13.5%) compared to other infiltrate (4.7%) or normal (4.9%) CXRs. Clinically diagnosed pneumonia cases with abnormal CXRs were more likely to have signs typically associated with pneumonia. However, CXR-normal cases were common, and clinical signs considered indicative of pneumonia were present in substantial proportions of these cases. CXR-consolidation cases represent a group with an increased likelihood of death at 30 days post-discharge. © The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America.

Angiostrongylus vasorum infection in foxes (Vulpes vulpes) in Cornwall.

PubMed

Simpson, V R

1996-11-02

A post mortem examination on a young fox which had been observed to be clinically ill revealed a severe infection with Angiostrongylus vasorum. A further 11 foxes were examined and four were infected with the parasite; three of these also had advanced lesions of sarcoptic mange. The cases all occurred outside the previously defined focus of endemic infection for dogs in Cornwall and they appear to be the first recorded cases of A vasorum in foxes in the United Kingdom.

Is the learning curve endless? One surgeon's experience with robotic prostatectomy

NASA Astrophysics Data System (ADS)

Patel, Vipul; Thaly, Rahul; Shah, Ketul

2007-02-01

Introduction: After performing 1,000 robotic prostatectomies we reflected back on our experience to determine what defined the learning curve and the essential elements that were the keys to surmounting it. Method: We retrospectively assessed our experience to attempt to define the learning curve(s), key elements of the procedure, technical refinements and changes in technology that facilitated our progress. Result: The initial learning curve to achieve basic competence and the ability to smoothly perform the procedure in less than 4 hours with acceptable outcomes was approximately 25 cases. A second learning curve was present between 75-100 cases as we approached more complicated patients. At 200 cases we were comfortably able to complete the procedure routinely in less than 2.5 hours with no specific step of the procedure hindering our progression. At 500 cases we had the introduction of new instrumentation (4th arm, biopolar Maryland, monopolar scissors) that changed our approach to the bladder neck and neurovascular bundle dissection. The most challenging part of the procedure was the bladder neck dissection. Conclusion: There is no single parameter that can be used to assess or define the learning curve. We used a combination of factors to make our subjective definition this included: operative time, smoothness of technical progression during the case along with clinical outcomes. The further our case experience progressed the more we expected of our outcomes, thus we continually modified our technique and hence embarked upon yet a new learning curve.

Evaluating the Difference between Virtual and Paper-Based Clinical Cases in Family Medicine Undergraduate Education

PubMed Central

Cagran, Branka

2018-01-01

Introduction A “virtual patient” is defined as a computer program which simulates real patients' cases. The aim of this study was to determine whether the inclusion of virtual patients affects the level of factual knowledge of family medicine students at the undergraduate level. Methods This was a case-controlled prospective study. The students were randomly divided into experimental (EG: N = 51) and control (CG: N = 48) groups. The students in the EG were asked to practice diagnosis using virtual patients instead of the paper-based clinical cases which were solved by the students in the CG. The main observed variable in the study was knowledge of family medicine, determined by 50 multiple choice questions (MCQs) about knowledge of family medicine. Results There were no statistically significant differences in the groups' initial knowledge. At the final assessment of knowledge, there were no statistically significant differences between the groups, but there was a statistically significant difference between their initial and final knowledge. Conclusions The study showed that adding virtual patient cases to the curriculum, instead of paper clinical cases, did not affect the level of factual knowledge about family medicine. Virtual patients can be used, but a significant educational outcome is not expected. PMID:29568779

Mycobacterium abscessus post-injection abscesses from extrinsic contamination of multiple-dose bottles of normal saline in a rural clinic.

PubMed

Yuan, Jun; Liu, Yufei; Yang, Zhicong; Cai, Yanshan; Deng, Zhiai; Qin, Pengzhe; Li, Tiegang; Dong, Zhiqiang; Yan, Ziqiang; Zhou, Duanhua; Luo, Huiming; Ma, Huilai; Pang, Xinglin; Fontaine, Robert E

2009-09-01

We investigated an outbreak of gluteal abscesses following intramuscular (IM) injections given at a clinic in rural China to identify the causative agent, source, and method of exposure. We defined a case as an abscess that appeared at the site of an injection given since June 1, 2006. We compared case rates by injection route, medication, and diluents. We reviewed injection practices, and cultured abscesses and environmental sites for mycobacteria. From October through December 2006, 5.8% (n=35) of 604 persons who had received injections at the clinic developed a case. All 35 cases occurred in 184 patients (attack rate=19.0%) who had received IM injections with various drugs that had been mixed with normal saline (NS); risk ratio=infinity; p<0.0001. No cases occurred in the absence of NS exposure. We identified Mycobacterium abscessus from eight abscesses and from the clinic water supply, and observed the inappropriate reuse of a 16-gauge needle left in the rubber septum of 100 ml multiple-dose bottles of NS in the clinic. Fourteen percent (n=527) of the 3887 registered residents of this village had been treated with IM drugs over a three-month period, often for minor illnesses. This outbreak of M. abscessus occurred from exposure to extrinsically contaminated NS through improper injection practices. Frequent treatment of minor illnesses with IM injections of antibiotics was likely an important contributing factor to the size of this outbreak.

[Giant dermatofibroma: case report and review of the literature].

PubMed

Hueso, L; Sanmartín, O; Alfaro-Rubio, A; Serra-Guillén, C; Martorell, A; Llombart, B; Requena, C; Nagore, E; Botella-Estrada, R; Guillén, C

2007-03-01

Dermatofibroma is a very frequent lesion that usually appears as a slowly growing nodule in the dermis, and preferentially involves the lower extremities of women. Several clinical variants have been described. Giant dermatofibroma has been defined as a rare variant of dermatofibroma measuring more than 5 cm that presents typical histological features and a benign biological behavior. We report the case of a 52-year-old man that presented a giant dermatofibroma with a diameter of 6 cm in the right shoulder and we review the few cases of this variant that have been described in the literature.

The driver landscape of sporadic chordoma

DOE PAGES

Tarpey, Patrick S.; Behjati, Sam; Young, Matthew D.; ...

2017-10-12

Chordoma is a malignant, often incurable bone tumour showing notochordal differentiation. Here, we defined the somatic driver landscape of 104 cases of sporadic chordoma. We reveal somatic duplications of the notochordal transcription factor brachyury (T) in up to 27% of cases. These variants recapitulate the rearrangement architecture of the pathogenic germline duplications of T that underlie familial chordoma. In addition, we find potentially clinically actionable PI3K signalling mutations in 16% of cases. Intriguingly, one of the most frequently altered genes, mutated exclusively by inactivating mutation, was LYST (10%), which may represent a novel cancer gene in chordoma.

The driver landscape of sporadic chordoma

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

Tarpey, Patrick S.; Behjati, Sam; Young, Matthew D.

Chordoma is a malignant, often incurable bone tumour showing notochordal differentiation. Here, we defined the somatic driver landscape of 104 cases of sporadic chordoma. We reveal somatic duplications of the notochordal transcription factor brachyury (T) in up to 27% of cases. These variants recapitulate the rearrangement architecture of the pathogenic germline duplications of T that underlie familial chordoma. In addition, we find potentially clinically actionable PI3K signalling mutations in 16% of cases. Intriguingly, one of the most frequently altered genes, mutated exclusively by inactivating mutation, was LYST (10%), which may represent a novel cancer gene in chordoma.

Day-case surgery for total hip and knee replacement: How safe and effective is it?

PubMed

Lazic, Stefan; Boughton, Oliver; Kellett, Catherine F; Kader, Deiary F; Villet, Loïc; Rivière, Charles

2018-04-01

Multimodal protocols for pain control, blood loss management and thromboprophylaxis have been shown to benefit patients by being more effective and as safe (fewer iatrogenic complications) as conventional protocols.Proper patient selection and education, multimodal protocols and a well-defined clinical pathway are all key for successful day-case arthroplasty.By potentially being more effective, cheaper than and as safe as inpatient arthroplasty, day-case arthroplasty might be beneficial for patients and healthcare systems. Cite this article: EFORT Open Rev 2018;3:130-135. DOI: 10.1302/2058-5241.3.170031.

[Continuing importance of the clinical approach. Observations on a regional collaboration between general practitioners, internists and cardiologists].

PubMed

Jaussi, A

1994-11-12

The advent of high-tech diagnostic methods raises concerns nowadays about the value of the clinical approach and bedside diagnosis. This at least is the impression given by modern scientific literature, which rarely even mentions this part of examination of the patient. In order to define the actual role played by auscultation in the management of cardiological patients by the primary care physician, the records of 250 patients consecutively referred to a cardiologist are analyzed. The practitioner's initial clinical diagnosis is compared to the final cardiological diagnosis. Per referred patient, 1.76 specialized consultations were needed. In 64% of the cases only one such consultation took place. Initial diagnosis was correct in 80% of all cases, partly correct in 11% and incorrect in 9% of the cases. Out of the 64 cases of valvular diseases, 33 were initially correctly recognized by the physician. The cardiological investigation was also invasive in 6.5% of all cases, 4.5% of the patients eventually undergoing invasive or surgical treatment. Thus the great majority of the patients (93.5%) were managed by the primary physician with "first-line" cardiologist's support, which was often only occasional (only one specialized consultation in about two thirds of all cases). This highly independent and presumably cost-effective patient management by the primary care physician implies a high level of clinical skill. It stresses the outstanding importance of continuing teaching of the clinical approach and particularly of cardiac auscultation, which is still the best screening method for valvular heart disease.

Acantholytic squamous cell carcinoma is usually associated with hair follicles, not acantholytic actinic keratosis, and is not “high risk”: Diagnosis, management, and clinical outcomes in a series of 115 cases

PubMed Central

Ogawa, Toru; Kiuru, Maija; Konia, Thomas H.; Fung, Maxwell A.

2017-01-01

Background Acantholytic squamous cell carcinoma (aSCC) is regarded as a high-risk variant of cutaneous squamous cell carcinoma (SCC). Acantholytic actinic keratosis (aAK) has been regarded as a precursor risk factor for aSCC. However, supporting evidence is limited. Objective We sought to document clinical features, histologic features, management, and outcomes in a series of aSCC cases. Methods Definitions of aSCC, aAK, and aSCC arising in association with aAK were applied to a consecutive series of aSCC cases. Clinical characteristics and outcomes were obtained from electronic medical records. Results Of 115 aSCC cases (103 patients, mean age 71.8 years), actinic keratosis was present in 23% (27/115) but only 7.8% (9/115) exhibited associated aAK. Ten cases (10/115, 9%) fulfilled strict histologic criteria for follicular SCC as previously defined, but 50 of 115 (43%) of our aSCC cases exhibited predominant involvement of follicular epithelium rather than epidermis. Clinical outcome (median follow-up, 36 months) was available in 106 of 115 (92%). One patient experienced regional extension (parotid), and 1 patient experienced a local recurrence (nose). No disease-related metastases or deaths were documented. Limitations This was a single-institution retrospective study from the United States. Conclusions The presence of acantholysis in cutaneous SCC does not specifically confer aggressive behavior, a finding that may inform clinical practice guidelines. PMID:27889291

Acantholytic squamous cell carcinoma is usually associated with hair follicles, not acantholytic actinic keratosis, and is not "high risk": Diagnosis, management, and clinical outcomes in a series of 115 cases.

PubMed

Ogawa, Toru; Kiuru, Maija; Konia, Thomas H; Fung, Maxwell A

2017-02-01

Acantholytic squamous cell carcinoma (aSCC) is regarded as a high-risk variant of cutaneous squamous cell carcinoma (SCC). Acantholytic actinic keratosis (aAK) has been regarded as a precursor risk factor for aSCC. However, supporting evidence is limited. We sought to document clinical features, histologic features, management, and outcomes in a series of aSCC cases. Definitions of aSCC, aAK, and aSCC arising in association with aAK were applied to a consecutive series of aSCC cases. Clinical characteristics and outcomes were obtained from electronic medical records. Of 115 aSCC cases (103 patients, mean age 71.8 years), actinic keratosis was present in 23% (27/115) but only 7.8% (9/115) exhibited associated aAK. Ten cases (10/115, 9%) fulfilled strict histologic criteria for follicular SCC as previously defined, but 50 of 115 (43%) of our aSCC cases exhibited predominant involvement of follicular epithelium rather than epidermis. Clinical outcome (median follow-up, 36 months) was available in 106 of 115 (92%). One patient experienced regional extension (parotid), and 1 patient experienced a local recurrence (nose). No disease-related metastases or deaths were documented. This was a single-institution retrospective study from the United States. The presence of acantholysis in cutaneous SCC does not specifically confer aggressive behavior, a finding that may inform clinical practice guidelines. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

Outbreak of group A Streptococcus infections in an outpatient wound clinic-Colorado, 2014.

PubMed

Hancock-Allen, Jessica B; Janelle, Sarah J; Lujan, Kate; Bamberg, Wendy M

2016-10-01

In September 2014, wound clinic A reported a cluster of group A Streptococcus (GAS) infections to public health authorities. Although clinic providers were individually licensed, the clinic, affiliated with hospital A, was not licensed or subject to regulation. We investigated to identify cases, determine risk factors, and implement control measures. A case was defined as GAS isolation from a wound or blood specimen during March 28-November 19, 2014, from a patient treated at wound clinic A or by a wound clinic A provider within the previous 7 days. All wound clinic A staff were screened for GAS carriage. Wound care procedures were assessed for adherence to infection control principles and possible GAS transmission routes. We identified 16 patients with 19 unique infections: 9 (56%) patients required hospitalization, and 7 (44%) required surgical debridement procedures. One patient died. Six (37%) patients received negative pressure wound therapy at GAS onset. Staff self-screening found no GAS carriers. Breaches in infection control and poor wound care practices were widespread. This GAS outbreak was associated with a wound care clinic not subject to state or federal regulation. Lapses in infection control practices and inadequate oversight contributed to the outbreak. Published by Elsevier Inc.

Clinical instructors' and athletic training students' perceptions of teachable moments in an athletic training clinical education setting.

PubMed

Rich, Valerie J

2009-01-01

For some time, educators have advised clinical instructors (CIs) to capture the elusive teachable moment in clinical education. However, a universal definition of a teachable moment does not exist. Without a clear understanding of this concept, CIs and athletic training students (ATSs) may have difficulty facilitating the teachable moment. To recognize and define a teachable moment as it relates to the athletic training clinical education setting and to identify potential barriers to creating the teachable moment. Mixed-methods design employing grounded theory and quantitative analysis. Collegiate sports medicine clinic affiliated with a Commission on Accreditation of Allied Health Education Programs-accredited athletic training education program. 11 CIs (6 men, 5 women) and 11 ATSs (3 men, 8 women). Participants completed a teachable moment questionnaire to define and identify teachable moments. Follow-up semistructured interviews were conducted after data collection. A qualitative analysis was conducted on responses using open, axial, and selective coding. Member checking was conducted to establish trustworthiness. Qualitative data were quantified to descriptively report the findings. Engaged clinical experiences were the overarching theme. Three major themes that defined a teachable moment emerged: (1) professional discourse about skills, techniques, research, and special cases; (2) authentic experience or actual hands-on experience; and (3) skill development or time for skill instruction, practice, role playing, and simulations. Participants reported 158 teachable moments (CIs = 75, ATSs = 83). Lack of time and other duties were examples of barriers hindering the teachable moment. The teachable moment occurs when a CI and an ATS actively participate and interact with each other to enhance learning and foster intellectual curiosity in the clinical education environment. An underlying barrier to the teachable moment is perceived to be the CI's day-to-day responsibilities.

Ultrasound-Guided Intermediate Site Greater Occipital Nerve Infiltration: A Technical Feasibility Study.

PubMed

Zipfel, Jonathan; Kastler, Adrian; Tatu, Laurent; Behr, Julien; Kechidi, Rachid; Kastler, Bruno

2016-01-01

Two studies recently reported that computed tomography (CT) guided infiltration of the greater occipital nerve at its intermediate site allows a high efficacy rate with long-lasting pain relief following procedure in occipital neuralgia and in various craniofacial pain syndromes. The purpose of our study was to evaluate the technical feasibility and safety of ultrasound-guided intermediate site greater occipital nerve infiltration. Retrospective study. This study was conducted at the imaging department of a 1,409 bed university hospital. Local institutional review board approval was obtained and written consent was waived. In this retrospective study, 12 patients suffering from refractory occipital neuralgia or craniofacial pain syndromes were included between April and October 2014. They underwent a total of 21 ultrasound-guided infiltrations. Infiltration of the greater occipital nerve was performed at the intermediate site of the greater occipital nerve, at its first bend between obliqus capitis inferior and semispinalis capitis muscles with local anestetics and cortivazol. Technical success was defined as satisfactory diffusion of added iodinated contrast media in the fatty space between these muscles depicted on control CT scan. We also reported first data of immediate block test efficacy and initial clinical efficacy at 7 days, one month, and 3 months, defined by a decrease of at least 50% of visual analog scale (VAS) scores. Technical success rate was 95.24%. Patients suffered from right unilateral occipital neuralgia in 3 cases, left unilateral occipital neuralgia in 2 cases, bilateral occipital neuralgia in 2 cases, migraine in one case, cervicogenic headache in one case, tension-type headache in 2 cases, and cluster headache in one case. Block test efficacy was found in 93.3% (14/15) cases. Clinical efficacy was found in 80% of cases at 7 days, in 66.7% of cases at one month and in 60% of cases at 3 months. No major complications were noted. Some of the limitations of our study include that it represents a single institution. The low number of infiltrations included in this study, for this guidance procedure, is another bias. This ultrasound-guided infiltration technique appears to be feasible, safe, non-ionizing, and fast when targeting the greater occipital nerve in its intermediate portion. This imaging guidance modality should be used in routine clinical practice. Greater occipital nerve, infiltration, ultrasound guidance, corticosteroids, occipital neuralgia, craniofacial pain syndrome.

The ABC of Hidradenitis Suppurativa: A Validated Glossary on how to Name Lesions.

PubMed

Lipsker, Dan; Severac, François; Freysz, Marie; Sauleau, Eric; Boer, Jurr; Emtestam, Lennart; Matusiak, Łukasz; Prens, Errol; Velter, Charles; Lenormand, Cédric; Meyer, Nicolas; Jemec, Gregor B E

2016-01-01

The precise clinical description of skin lesions observed in some patients with hidradenitis suppurativa (HS) can be extremely difficult. Establishing a validated glossary of terms allowing the best possible description of lesions observed in HS patients. Five international experts of HS were to assess a series of 25 photos representing typical lesions of this disorder. For each photo, the experts were asked whether naming of the lesions was possible or not and, if yes, by using which noun. Agreement of their responses was calculated using Fleiss's kappa index. Using a Delphi strategy, photos with disagreement were discussed, and photos were reevaluated on the next day. In case of agreement on the impossibility of naming some clinical situations, new terms, to be included into the glossary, were agreed upon. After the first round of photos, agreement between the experts was poor with a kappa index of only 0.33 (95% CI 0.22-0.46). After extensive discussion of cases with disagreement, the kappa index increased on day 2 to 0.75 (95% CI 0.60-0.87), allowing to conclude on good interobserver agreement on terminology. Furthermore, a few clinical situations were identified in which naming with established semantics is so far not possible. For these situations, the terms 'multicord', 'multipore', 'multitunnel' and 'retraction' were defined. This is the first validation of clinical terms used to describe lesions in patients with HS. This should be helpful in better defining the clinical phenotypes observed in this disorder. © 2016 S. Karger AG, Basel.

[Severe pruriginous acne in dialysed renal failure. Diagnostic difficulties and efficacy of isotretinoin].

PubMed

Grange, F; Mitschler, A; Genestier, S; Guillaume, J C

2001-11-01

The occurrence of acne in dialysed renal failure patients has rarely been reported and the clinical characteristics and therapeutic issues rarely studied in these patients. Two men and two women, 33 to 56 years-old, with chronic renal failure and no past history of acne, developed severe acne under dialysis. The acne was excoriated in all cases and associated with prurigo-like lesions and intense pruritus, which made diagnosis difficult. Acne was profuse on the face and the trunk, but also on the neck (1 case) and the upper limbs (2 cases). No patient was taking acne-inducing substances. Various to therapies attempting to control pruritus were ineffective. However, anti-acne treatments (cyclines associated with local tretinoin in 1 case and oral isotreninoin in 3 cases) led to complete regression of the acne, pruritus and the prurigo-like lesions without relapse after a follow-up time of 4 months to 2 years. Pruritus is frequent during renal failure. However, the occurrence of unexplained acne has only rarely been reported. Our patients' clinical picture was original, characterized by the late development, under dialysis, of severe and pruriginous acne, the pathogenesis of which is unknown. Because of the clinical and therapeutic implications (impaired quality of life, pigmentation or scarring and remarkable efficacy of oral isotretinoin) this clinical picture merits more attention, and the modalities for the prescription of isotretinoin in this context should be defined.

Understanding context in knowledge translation: a concept analysis study protocol.

PubMed

Squires, Janet E; Graham, Ian D; Hutchinson, Alison M; Linklater, Stefanie; Brehaut, Jamie C; Curran, Janet; Ivers, Noah; Lavis, John N; Michie, Susan; Sales, Anne E; Fiander, Michelle; Fenton, Shannon; Noseworthy, Thomas; Vine, Jocelyn; Grimshaw, Jeremy M

2015-05-01

To conduct a concept analysis of clinical practice contexts (work environments) that facilitate or militate against the uptake of research evidence by healthcare professionals in clinical practice. This will involve developing a clear definition of context by describing its features, domains and defining characteristics. The context where clinical care is delivered influences that care. While research shows that context is important to knowledge translation (implementation), we lack conceptual clarity on what is context, which contextual factors probably modify the effect of knowledge translation interventions (and hence should be considered when designing interventions) and which contextual factors themselves could be targeted as part of a knowledge translation intervention (context modification). Concept analysis. The Walker and Avant concept analysis method, comprised of eight systematic steps, will be used: (1) concept selection; (2) determination of aims; (3) identification of uses of context; (4) determination of defining attributes of context; (5) identification/construction of a model case of context; (6) identification/construction of additional cases of context; (7) identification/construction of antecedents and consequences of context; and (8) definition of empirical referents of context. This study is funded by the Canadian Institutes of Health Research (January 2014). This study will result in a much needed framework of context for knowledge translation, which identifies specific elements that, if assessed and used to tailor knowledge translation activities, will result in increased research use by nurses and other healthcare professionals in clinical practice, ultimately leading to better patient care. © 2014 John Wiley & Sons Ltd.

Skin Cancer of the Head and Neck With Perineural Invasion: Defining the Clinical Target Volumes Based on the Pattern of Failure

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

Gluck, Iris; Ibrahim, Mohannad; Popovtzer, Aron

2009-05-01

Purpose: To analyze patterns of failure in patients with head-and-neck cutaneous squamous cell carcinoma (HNCSCC) and clinical/radiologic evidence of perineural invasion (CPNI), in order to define neural clinical target volume (CTV) for treatment planning. Methods and Materials: Patients treated with three-dimensional (3D) conformal or intensity-modulated radiotherapy (IMRT) for HNCSCC with CPNI were included in the study. A retrospective review of the clinical charts, radiotherapy (RT) plans and radiologic studies has been conducted. Results: Eleven consecutive patients with HNCSCCs with CPNI were treated from 2000 through 2007. Most patients underwent multiple surgical procedures and RT courses. The most prevalent failure patternmore » was along cranial nerves (CNs), and multiple CNs were ultimately involved in the majority of cases. In all cases the involved CNs at recurrence were the main nerves innervating the primary tumor sites, as well as their major communicating nerves. We have found several distinct patterns of disease spread along specific CNs depending on the skin regions harboring the primary tumors, including multiple branches of CN V and VII. These patterns and the pertinent anatomy are detailed in the this article. Conclusions: Predictable disease spread patterns along cranial nerves supplying the primary tumor sites were found in this study. Awareness of these patterns, as well as knowledge of the relevant cranial nerve anatomy, should be the basis for CTV definition and delineation for RT treatment planning.« less

Scleroderma renal crisis in a case of mixed connective tissue disease.

PubMed

Vij, Mukul; Agrawal, Vinita; Jain, Manoj

2014-07-01

Mixed connective tissue disease (MCTD) is an overlap syndrome first defined in 1972 by Sharp et al. In this original study, the portrait emerged of a connective tissue disorder sharing features of systemic lupus erythematosus, systemic sclerosis (scleroderma) and polymyositis. Scleroderma renal crisis (SRC) is an extremely infrequent but serious complication that can occur in MCTD. The histologic picture of SRC is that of a thrombotic micro-angiopathic process. Renal biopsy plays an important role in confirming the clinical diagnosis, excluding overlapping/superimposed diseases that might lead to acute renal failure in MCTD patients, helping to predict the clinical outcome and optimizing patient management. We herewith report a rare case of SRC in a patient with MCTD and review the relevant literature.

Masked Hypertension and Incident Clinic Hypertension Among Blacks in the Jackson Heart Study.

PubMed

Abdalla, Marwah; Booth, John N; Seals, Samantha R; Spruill, Tanya M; Viera, Anthony J; Diaz, Keith M; Sims, Mario; Muntner, Paul; Shimbo, Daichi

2016-07-01

Masked hypertension, defined as nonelevated clinic blood pressure (BP) and elevated out-of-clinic BP may be an intermediary stage in the progression from normotension to hypertension. We examined the associations of out-of-clinic BP and masked hypertension using ambulatory BP monitoring with incident clinic hypertension in the Jackson Heart Study, a prospective cohort of blacks. Analyses included 317 participants with clinic BP <140/90 mm Hg, complete ambulatory BP monitoring, who were not taking antihypertensive medication at baseline in 2000 to 2004. Masked daytime hypertension was defined as mean daytime blood pressure ≥135/85 mm Hg, masked night-time hypertension as mean night-time BP ≥120/70 mm Hg, and masked 24-hour hypertension as mean 24-hour BP ≥130/80 mm Hg. Incident clinic hypertension, assessed at study visits in 2005 to 2008 and 2009 to 2012, was defined as the first visit with clinic systolic/diastolic BP ≥140/90 mm Hg or antihypertensive medication use. During a median follow-up of 8.1 years, there were 187 (59.0%) incident cases of clinic hypertension. Clinic hypertension developed in 79.2% and 42.2% of participants with and without any masked hypertension, 85.7% and 50.4% with and without masked daytime hypertension, 79.9% and 43.7% with and without masked night-time hypertension, and 85.7% and 48.2% with and without masked 24-hour hypertension, respectively. Multivariable-adjusted hazard ratios (95% confidence interval) of incident clinic hypertension for any masked hypertension and masked daytime, night-time, and 24-hour hypertension were 2.13 (1.51-3.02), 1.79 (1.24-2.60), 2.22 (1.58-3.12), and 1.91 (1.32-2.75), respectively. These findings suggest that ambulatory BP monitoring can identify blacks at increased risk for developing clinic hypertension. © 2016 American Heart Association, Inc.

Masked Hypertension and Incident Clinic Hypertension among African Americans in the Jackson Heart Study

PubMed Central

Abdalla, Marwah; Booth, John N.; Seals, Samantha R.; Spruill, Tanya M.; Viera, Anthony J.; Diaz, Keith M.; Sims, Mario; Muntner, Paul; Shimbo, Daichi

2016-01-01

Masked hypertension, defined as non-elevated clinic blood pressure and elevated out-of-clinic blood pressure may be an intermediary stage in the progression from normotension to hypertension. We examined the associations of out-of-clinic blood pressure and masked hypertension using ambulatory blood pressure monitoring with incident clinic hypertension in the Jackson Heart Study, a prospective cohort of African Americans. Analyses included 317 participants with clinic blood pressure <140/90mmHg, complete ABPM, who were not taking antihypertensive medication at baseline in 2000–2004. Masked daytime hypertension was defined as mean daytime blood pressure ≥135/85mmHg; masked nighttime hypertension as mean nighttime blood pressure ≥120/70mmHg; and masked 24-hour hypertension as mean 24-hour blood pressure ≥130/80mmHg. Incident clinic hypertension, assessed at study visits in 2005–2008 and 2009–2012, was defined as the first visit with clinic systolic/diastolic blood pressure ≥140/90mmHg or antihypertensive medication use. During a median follow-up of 8.1 years, there were 187 (59.0%) incident cases of clinic hypertension. Clinic hypertension developed in 79.2% and 42.2% of participants with and without any masked hypertension, 85.7% and 50.4% with and without masked daytime hypertension, 79.9% and 43.7% with and without masked nighttime hypertension and 85.7% and 48.2% with and without masked 24-hour hypertension, respectively. Multivariable-adjusted hazard ratios (95% CI) of incident clinic hypertension for any masked hypertension and masked daytime, nighttime, and 24-hour hypertension were 2.13 (1.51–3.02), 1.79 (1.24–2.60), 2.22 (1.58–3.12), and 1.91 (1.32–2.75), respectively. These findings suggest that ambulatory blood pressure monitoring can identify African Americans at increased risk for developing clinic hypertension. PMID:27185746

Identification of Health Education Competency in School Nurse Certification Programs: Multiple Case Study

ERIC Educational Resources Information Center

Barrett, Melinda S.

2017-01-01

The purpose of this study was to explore and describe health education competency activities in both classroom and clinical settings within school nurse certification programs. Health education competency was explored within the context of and as defined by the American Nurses Association (ANA) and the National Association of School Nurses (NASN)…

Anorectal Disorders

PubMed Central

Rao, Satish S. C.; Bharucha, Adil E.; Chiarioni, Giuseppe; Felt-Bersma, Richelle; Knowles, Charles; Malcolm, Allison; Wald, Arnold

2016-01-01

This report defines criteria and reviews the epidemiology, pathophysiology, and management of the following common anorectal disorders: fecal incontinence (FI), functional anorectal pain, and functional defecation disorders. FI is defined as the recurrent uncontrolled passage of fecal material for at least 3 months. The clinical features of FI are useful for guiding diagnostic testing and therapy. Anorectal manometry and imaging are useful for evaluating anal and pelvic floor structure and function. Education, antidiarrheals, and biofeedback therapy are the mainstay of management; surgery may be useful in refractory cases. Functional anorectal pain syndromes are defined by clinical features and categorized into 3 subtypes. In proctalgia fugax, the pain is typically fleeting and lasts for seconds to minutes. In levator ani syndrome and unspecified anorectal pain, the pain lasts more than 30 minutes, but in levator ani syndrome there is puborectalis tenderness. Functional defecation disorders are defined by ≥2 symptoms of chronic constipation or irritable bowel syndrome with constipation, and with ≥2 features of impaired evacuation, that is, abnormal evacuation pattern on manometry, abnormal balloon expulsion test, or impaired rectal evacuation by imaging. It includes 2 subtypes: dyssynergic defecation and inadequate defecatory propulsion. Pelvic floor biofeedback therapy is effective for treating levator ani syndrome and defecatory disorders. PMID:27144630

Functional Anorectal Disorders.

PubMed

Rao, Satish Sc; Bharucha, Adil E; Chiarioni, Giuseppe; Felt-Bersma, Richelle; Knowles, Charles; Malcolm, Allison; Wald, Arnold

2016-03-25

This report defines criteria and reviews the epidemiology, pathophysiology, and management of common anorectal disorders: fecal incontinence (FI), functional anorectal pain and functional defecation disorders. FI is defined as the recurrent uncontrolled passage of fecal material for at least 3 months. The clinical features of FI are useful for guiding diagnostic testing and therapy. Anorectal manometry and imaging are useful for evaluating anal and pelvic floor structure and function. Education, antidiarrheals and biofeedback therapy are the mainstay of management; surgery may be useful in refractory cases. Functional anorectal pain syndromes are defined by clinical features and categorized into three subtypes. In proctalgia fugax, the pain is typically fleeting and lasts for seconds to minutes. In levator ani syndrome (LAS) and unspecified anorectal pain the pain lasts more than 30 minutes, but in LAS there is puborectalis tenderness. Functional defecation disorders are defined by >2 symptoms of chronic constipation or irritable bowel syndrome with constipation, and with >2 features of impaired evacuation i.e., abnormal evacuation pattern on manometry, abnormal balloon expulsion test or impaired rectal evacuation by imaging. It includes two subtypes; dyssynergic defecation and inadequate defecatory propulsion. Pelvic floor biofeedback therapy is effective for treating LAS and defecatory disorders. Copyright © 2016 AGA Institute. Published by Elsevier Inc. All rights reserved.

Angioinvasive pulmonary aspergillosis after allogeneic bone marrow transplantation: clinical and high-resolution computed tomography findings in 12 cases.

PubMed

Gasparetto, Emerson L; Souza, Carolina A; Tazoniero, Priscilla; Davaus, Taisa; Escuissato, Dante L; Marchiori, Edson

2007-02-01

The aim of this study was to present the clinical and high-resolution CT scan findings of angioinvasive pulmonary aspergillosis (APA) in 12 patients who underwent allogeneic bone marrow transplantation (BMT). The CT scans were reviewed by three chest radiologists who assessed the pattern and distribution of findings by consent. There were 7 (58%) female and 5 (42%) male patients, with aging between 5 and 50 years (average of 26 years). All patients were submitted to BMT for the treatment of hematological conditions. The diagnosis of APA was defined between 5 and 373 days after BMT, with average of 111 days. Three cases (25%) were diagnosed in the neutropenic phase after the BMT, five (42%) in the early phase and four patients in the late phase post-BMT. Regarding high-resolution CT (HRCT) scan findings, nodules were found in 75% of the cases (9/12), most of the cases with more than 10 lesions (7/9) and of centrilobular localization (6/9). Consolidations were identified in seven patients (58%), being single in six, and commonly presenting ill defined borders (n=3) and subsegmental localization (n=5). Ground glass attenuation was found in six patients (50%). The halo sign was observed in nine cases (75%). Cavitations were seen in two air-space consolidations and one large nodule (2.5 cm). Patients submitted to BMT presenting respiratory symptoms and nodules or consolidations with halo sign at HRCT scan need to have the diagnosis of angioinvasive pulmonary aspergillosis included in all the post BMT phases.

Tropheryma whipplei Infection (Whipple Disease) in the USA.

PubMed

Hujoel, Isabel A; Johnson, David H; Lebwohl, Benjamin; Leffler, Daniel; Kupfer, Sonia; Wu, Tsung-Teh; Murray, Joseph A; Rubio-Tapia, Alberto

2018-03-23

Whipple disease (WD) is an infection caused by the bacterium Tropheryma whipplei (TW). Few cases have been reported in the USA. To report on the demographics, clinical manifestations, diagnostic findings, treatment, and outcomes of TW infection. Cases of TW infection diagnosed from 1995 to 2010 were identified in three US referral centers and from 1995 to 2015 in one. Definite classic WD was defined by positive periodic acid-Schiff (PAS) staining and probable WD by specific positive TW polymerase chain reaction (PCR) of intestinal specimens. Localized infections were defined by a positive TW PCR result from samples of other tissues/body fluids. Among the 33 cases of TW infections, 27 (82%) were male. Median age at diagnosis was 53 years (range 11-75). Diagnosis was supported by a positive TW PCR in 29 (88%) and/or a positive PAS in 16 (48%) patients. Classic WD was the most frequent presentation (n = 18, 55%), with 14 definite and 4 probable cases. Localized infections (n = 15, 45%) affected the central nervous system (n = 7), joints (n = 4), heart (n = 2), eye (n = 1), and skeletal muscle (n = 1). Blood PCR was negative in 9 of 17 (53%) cases at diagnosis. Ceftriaxone intravenously followed by trimethoprim and sulfamethoxazole orally was the most common regimen (n = 23, 70%). Antibiotic therapy resulted in clinical response in 24 (73%). TW infection can present as intestinal or localized disease. Negative small bowel PAS and PCR do not exclude the diagnosis of TW infection, and blood PCR is insensitive for active infection.

Serological diagnosis of Toxoplasma gondii infection: Recommendations from the French National Reference Center for Toxoplasmosis.

PubMed

Villard, O; Cimon, B; L'Ollivier, C; Fricker-Hidalgo, H; Godineau, N; Houze, S; Paris, L; Pelloux, H; Villena, I; Candolfi, E

2016-01-01

Toxoplasmosis manifests no clinical signs in 80% of cases in immunocompetent patient, causing immunization characterized by the persistence of cysts, particularly in brain, muscles, and retina. Assessing the serological status, based on testing for serum toxoplasma IgG and IgM antibodies, is essential in cases that are increasingly at risk for the more severe disease forms, such as congenital or ocular toxoplasmosis. This disease also exposes immunosuppressed patients to reactivation, which can lead to more widespread forms and increased mortality. By interpreting the serological results, we can estimate the risk of contamination or reactivation and define appropriate prophylactic and preventive measures, such as hygienic and dietetic, therapeutic, biological, and clinical follow-up, according to the clinical context. We hereby propose practical approaches based on serological data, resulting from a consensus of a group of experts from the French National Reference Center Network for Toxoplasmosis, according to both routine and specific clinical situations. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

Clinical laboratory billing: superfluous requirements without justification?

PubMed

Stadler, Stephen

2004-01-01

Congress occasionally passes new laws that affect how clinical laboratories handle test orders from physicians and, subsequently, process the billing for tests. Once a bill is signed into law, it is forwarded to administrative agencies, which draft regulations and administrative procedures, under which the intentions of Congress are carried out. In the case of laboratory test ordering and billing, the Centers for Medicare and Medicaid Services (CMS) has the greatest influence over how these regulations and procedures are defined. Unfortunately, in many cases, billing rules have been promulgated in ways that create the need for hospitals and commercial laboratories to expend huge sums of money to bill within the confines of the administrative rules; cause clinical laboratories to suffer from omissions and mistakes of other parties who are part of the patient care process but are not accountable for the billing information they provide to laboratories; and, frankly, in some respects, simply defy common sense.

[Kindler syndrome: clinical and ultra-structural particularities, a propos of three cases].

PubMed

El Fekih, Nadia; Mahfoudh, Anis; Zekri, Samy; Kharfi, Monia; Fazaa, Bécima; Jaafoura, Mohamed Habib; Kamoun, Mohamed Ridha

2011-08-01

Kindler's syndrome is a rare type of genetic skin condition belonging to the class of bullous poikilodermia. We report three new sibling cases of this rare syndrome. The condition was seen in three sisters aged 12, 16 and 20 years, born of a first-degree consanguineous marriage with no family history of Kindler's syndrome. The three patients presented spontaneously regressive bullous eruptions, poikilodermia of gradual onset, major cutaneous atrophy on the back of the hands and the feet, photosensitivity and gingival hypertrophy. Electron microscopy examination of poikilodermic skin showed normal anchoring filaments and intraepidermal cleavage. Diagnosis of Kindler's syndrome is based upon clinical evidence. Kidler's syndrome is a well defined clinical entity. Ultra-structural studies show intraepidermal, junctional, and dermal cleavage. This syndrome must be differentiated from congenital epidermolysis bullosa, Weary's syndrome, and other bullous hereditary poikilodermas. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Preterm birth: Case definition & guidelines for data collection, analysis, and presentation of immunisation safety data.

PubMed

Quinn, Julie-Anne; Munoz, Flor M; Gonik, Bernard; Frau, Lourdes; Cutland, Clare; Mallett-Moore, Tamala; Kissou, Aimee; Wittke, Frederick; Das, Manoj; Nunes, Tony; Pye, Savia; Watson, Wendy; Ramos, Ana-Maria Alguacil; Cordero, Jose F; Huang, Wan-Ting; Kochhar, Sonali; Buttery, Jim

2016-12-01

Preterm birth is commonly defined as any birth before 37 weeks completed weeks of gestation. An estimated 15 million infants are born preterm globally, disproportionately affecting low and middle income countries (LMIC). It contributes directly to estimated one million neonatal deaths annually and is a significant contributor to childhood morbidity. However, in many clinical settings, the information available to calculate completed weeks of gestation varies widely. Accurate dating of the last menstrual period (LMP), as well as access to clinical and ultrasonographic evaluation are important components of gestational age assessment antenatally. This case definition assign levels of confidence to categorisation of births as preterm, utilising assessment modalities which may be available across different settings. These are designed to enable systematic safety evaluation of vaccine clinical trials and post-implementation programmes of immunisations in pregnancy. Copyright © 2016. Published by Elsevier Ltd.

POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome

PubMed Central

2013-01-01

Background POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-associated encephalopathy. Case presentation We describe a 74 years old man carrying POLG1 mutations presenting with strokes, myopathy and ragged red fibers with some atypical aspects for MELAS such as late onset, lack of cerebral calcification and presence of frontal and occipital MRI lesions better consistent with the POLG associated-encephalopathy spectrum. Conclusion The lack of available data hampers a definite diagnosis in our patient as well as makes it difficult to compare MELAS, which is a clearly defined clinical syndrome, with POLG1-associated encephalopathy, which is so far a purely molecularly defined syndrome with a quite heterogeneous clinical picture. However, the present report contributes to expand the phenotypic spectrum of POLG1 mutations underlining the importance of searching POLG1 mutations in patients with mitochondrial signs and MELAS like phenotypes but negative for common mtDNA mutations. PMID:23324391

Zinc supplementation for the prevention of acute lower respiratory infection in children in developing countries: meta-analysis and meta-regression of randomized trials.

PubMed

Roth, Daniel E; Richard, Stephanie A; Black, Robert E

2010-06-01

Routine zinc supplementation is a potential intervention for the prevention of acute lower respiratory infection (ALRI) in developing countries. However, discrepant findings from recent randomized trials remain unexplained. Randomized trials of zinc supplementation in young children in developing countries were identified by a systematic literature review. Trials included in the meta-analysis met specific criteria, including participants <5 years of age, daily/weekly zinc and control supplementation for greater than 3 months, active household surveillance for respiratory morbidity and use of a case definition that included at least one sign of lower respiratory tract illness. ALRI case definitions were classified on the basis of specificity/severity. Incidence rate ratios (IRRs) were pooled by random-effects models. Meta-regression and sub-group analysis were performed to assess potential sources of between-study heterogeneity. Ten trials were eligible for inclusion (n = 49 450 children randomized). Zinc reduced the incidence of ALRI defined by specific clinical criteria [IRR 0.65, 95% confidence interval (CI) 0.52-0.82], but had no effect on lower-specificity ALRI case definitions based on caregiver report (IRR 1.01, 95% CI 0.91-1.12) or World Health Organization 'non-severe pneumonia' (0.96, 95% CI 0.86-1.08). By meta-regression, the effect of zinc was associated with ALRI case definition, but not with mean baseline age, geographic location, nutritional status or zinc dose. Routine zinc supplementation reduced the incidence of childhood ALRI defined by relatively specific clinical criteria, but the effect was null if lower specificity case definitions were applied. The choice of ALRI case definition may substantially influence inferences from community trials regarding the efficacy of preventive interventions.

[Mesenteric volvulus associated with mesenteric lipoma: about a case].

PubMed

Dème, Hamidou; Badji, Nfally; Akpo, Léra Géraud; Touré, Mouhamed Hamine; Draha, Ronald; Niang, Fallou Gallas; Diop, Abdoulaye Dione; Niang, El Hadj

2016-01-01

We report the case of a 7-year old patient presenting for acute paroxysmal abdominal pain at the level of epigastrium associated with vomiting without involving blockage of materials and gas. Clinical examination and laboratory tests were unremarkable. Abdominal ultrasound was requested as a first line investigationa and showed a right echogenic homogeneous flank and iliac fossa mass with regular contours without vascular Doppler signal and associated with "whirl sign" of mesenteric vessels. On CT scan this mass was seen as a well-defined lipoma formation, exerting a mass effect on the cecum, which was in direct contact with mesenteric volvulus. Arrangement of the mesenteric vessels at their origin was normal. The diagnosis of mesenteric volvulus associated with lipoma was retained. Surgical management and histological analysis of the surgical specimen confirmed the diagnosis. This clinical case aims to highlight the contribution of ultrasound and CT scan in the diagnosis of midgut volvulus.

Multi-resistant aspergillosis due to cryptic species.

PubMed

Howard, Susan Julie

2014-12-01

Reports of cryptic species causing aspergillosis in humans are increasing in the literature. Cryptic species are defined as those which are morphologically indistinguishable, although their identifications can be confirmed using molecular or other techniques which continue to become more widely available in the clinical setting. Antifungal resistance has often been noted in these cases, and indeed there does appear to be a higher prevalence of reduced susceptibility in cryptic species. Many of these observations are published as individual case reports or as a small component of larger data sets, making it challenging to review and compare the data fully. This review article seeks to describe the susceptibility trends and key learning outcomes of specific cases of infections caused by cryptic species, including Aspergillus alliaceus, Aspergillus calidoustus, Aspergillus felis, Aspergillus lentulus, Aspergillus tubingensis, Aspergillus viridinutans and Neosartorya pseudofischeri. These reports highlight the clinical need for full accurate identification and susceptibility testing to guide patient care.

Seckel's syndrome and malformations of cortical development: report of three new cases and review of the literature.

PubMed

Capovilla, G; Lorenzetti, M E; Montagnini, A; Borgatti, R; Piccinelli, P; Giordano, L; Accorsi, P; Caudana, R

2001-05-01

Seckel's syndrome is a rare form of primordial dwarfism, characterized by peculiar facial appearance. In the past, this condition was overdiagnosed, and most attention was given to the facial and skeletal features to define more precise diagnostic criteria. The presence of mental retardation and neurologic signs is one of the peculiar features of this syndrome, but only recently were rare cases of malformation of cortical development described, as documented by magnetic resonance imaging (MRI). Here, we present three new cases of Seckel's syndrome showing different malformations of cortical development (one gyral hypoplasia, one macrogyria and partial corpus callosum agenesis, and one bilateral opercular macrogyria). We hypothesize that the different types of clinical expression of our patients could be explained by different malformation of cortical development types. We think that MRI studies could be performed in malformative syndromes because of the possible correlations between type and extent of the lesion and the clinical picture of any individual case.

Squamous cell carcinoma from oral lichen planus: a case report of a lesion with 28 years of evolution.

PubMed

Silveira, Wanessa da Silva; Bottezini, Ezequiel Gregolin; Linden, Maria Salete; Rinaldi, Isadora; Paranhos, Luiz Renato; de Carli, João Paulo; Trentin, Micheline; Dos Santos, Pâmela Letícia

2017-12-01

Lichen planus (LP) is a relatively common mucocutaneous disease with autoimmune etiology. Considering its malignancy potential, it is important to define the correct diagnosis, treatment, and clinical follow-up for patients with LP so that the disease is not diagnosed late, thus hindering the chances of curing the disease. This study aims to describe a clinical case of oral squamous cell carcinoma, potentially originated from LP. The patient is undergoing clinical and histopathological follow-up. A 64-year-old Caucasian male patient presented with a proliferative verrucous lesion on the tongue and sought treatment at the School of Dentistry, University of Passo Fundo (UPF), Passo Fundo, Brazil. He claimed the lesion had been present since 1988, and had been initially diagnoses as "oral lichen planus." The physical exam presented three diagnostic hypotheses: plaque-like oral LP, verrucous carcinoma, and squamous cell carcinoma. After incisional biopsy and histopathological analysis, squamous cell carcinoma was diagnosed, probably originating from oral LP. The case study shows that malignancy from oral LP is possible, which justifies periodic clinical and histopathological follow-up, as well as the elimination of risk factors for carcinoma in patients with oral LP.

Relevance of deep learning to facilitate the diagnosis of HER2 status in breast cancer

PubMed Central

Vandenberghe, Michel E.; Scott, Marietta L. J.; Scorer, Paul W.; Söderberg, Magnus; Balcerzak, Denis; Barker, Craig

2017-01-01

Tissue biomarker scoring by pathologists is central to defining the appropriate therapy for patients with cancer. Yet, inter-pathologist variability in the interpretation of ambiguous cases can affect diagnostic accuracy. Modern artificial intelligence methods such as deep learning have the potential to supplement pathologist expertise to ensure constant diagnostic accuracy. We developed a computational approach based on deep learning that automatically scores HER2, a biomarker that defines patient eligibility for anti-HER2 targeted therapies in breast cancer. In a cohort of 71 breast tumour resection samples, automated scoring showed a concordance of 83% with a pathologist. The twelve discordant cases were then independently reviewed, leading to a modification of diagnosis from initial pathologist assessment for eight cases. Diagnostic discordance was found to be largely caused by perceptual differences in assessing HER2 expression due to high HER2 staining heterogeneity. This study provides evidence that deep learning aided diagnosis can facilitate clinical decision making in breast cancer by identifying cases at high risk of misdiagnosis. PMID:28378829

Concept Analysis of Posttraumatic Stress Disorder.

PubMed

Sekhon, Bikram

2017-05-23

Mental health nursing is not the same as psychiatry, so it is important for nurses to have an understanding of the defining attributes, antecedents, consequences, model cases, and empirical referents of post-traumatic stress disorder (PTSD). Walker and Avant's (2005) method is used to guide this concept analysis of PTSD. Four attributes arise from this concept analysis, which are addressed through both the DSM-IV and DSM-5 (American Psychiatric Association, /): triggering event or events, re-experiencing, fear, and helplessness. Though a majority of the defining attributes are addressed through both versions of the DSM, a key fifth attribute arises through this concept analysis: a disruption of meaning. A better understanding of PTSD from a nursing perspective will help inform appropriate nursing interventions and prevention strategies, while expanding the knowledge synthesis and contribution of the nursing profession. A model case, borderline case, and contrary case of PTSD are provided. Discussion of the importance of a lack or loss of meaning in PTSD is included, along with exploration of transformative learning theory to inform clinical practice for nurses addressing a disruption of meaning. © 2017 NANDA International, Inc.

Measurement Issues: Screening and diagnostic instruments for autism spectrum disorders – lessons from research and practice

PubMed Central

Charman, Tony; Gotham, Katherine

2012-01-01

Background and Scope Significant progress has been made over the past two decades in the development of screening and diagnostic instruments for autism spectrum disorders (ASD). This article reviews this progress, including recent innovations, focussing on those instruments for which the strongest research data on validity exists, and then turns to addressing issues arising from their use in clinical settings. Findings Research studies have evaluated the ability of screens to prospectively identify cases of ASD in population-based and clinically-referred samples, as well as the accuracy of diagnostic instruments to map onto ‘gold standard’ clinical best estimate diagnosis. However, extension of the findings to clinical services must be done with caution, with a full understanding that instrument properties are sample-specific. Furthermore, we are limited by the lack of a true test for ASD, which remains a behaviourally-defined disorder. In addition screening and diagnostic instruments help clinicians least in the cases where they are most in want of direction, since their accuracy will always be lower for marginal cases. Conclusion Instruments help clinicians to collect detailed, structured information and increase accuracy and reliability of referral for in-depth assessment and recommendations for support, but further research is needed to refine their effective use in clinical settings. PMID:23539140

Semantic dementia Brazilian study of nineteen cases

PubMed Central

Senaha, Mirna Lie Hosogi; Caramelli, Paulo; Porto, Claudia Sellitto; Nitrini, Ricardo

2007-01-01

The term semantic dementia was devised by Snowden et al. in 1989 and nowadays, the semantic dementia syndrome is recognized as one of the clinical forms of frontotemporal lobar degeneration (FTLD) and is characterized by a language semantic disturbance associated to non-verbal semantic memory impairment. Objectives The aim of this study was to describe a Brazilian sample of 19 semantic dementia cases, emphasizing the clinical characteristics important for differential diagnosis of this syndrome. Methods Nineteen cases with semantic dementia were evaluated between 1999 and 2007. All patients were submitted to neurological evaluation, neuroimaging exams and cognitive, language and semantic memory evaluation. Results All patients presented fluent spontaneous speech, preservation of syntactic and phonological aspects of the language, word-finding difficulty, semantic paraphasias, word comprehension impairment, low performance in visual confrontation naming tasks, impairment on tests of non-verbal semantic memory and preservation of autobiographical memory and visuospatial skills. Regarding radiological investigations, temporal lobe atrophy and/or hypoperfusion were found in all patients. Conclusions The cognitive, linguistic and of neuroimaging data in our case series corroborate other studies showing that semantic dementia constitutes a syndrome with well defined clinical characteristics associated to temporal lobe atrophy. PMID:29213413

Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib).

PubMed

Bastepe, Murat; Altug-Teber, Ozge; Agarwal, Chhavi; Oberfield, Sharon E; Bonin, Michael; Jüppner, Harald

2011-03-01

Pseudohypoparathyoridism type Ib (PHP-Ib) typically defines the presence of end-organ resistance to parathyroid hormone in the absence of Albright's hereditary osteodystrophy. Patients affected by this disorder present with imprinting defects in the complex GNAS locus. Microdeletions within STX16 or GNAS have been identified in familial cases with PHP-Ib, but the molecular cause of the GNAS imprinting defects in sporadic PHP-Ib cases remains poorly defined. We now report a case with sporadic PHP-Ib for whom a SNPlex analysis revealed loss of the maternal GNAS allele. Further analysis of the entire genome with a 100K SNP chip identified a paternal uniparental isodisomy affecting the entire chromosome 20 without evidence for another chromosomal abnormality. Our findings explain the observed GNAS methylation changes and the patient's hormone resistance, and furthermore suggest that chromosome 20 harbors, besides GNAS, no additional imprinted region that contributes to the clinical and laboratory phenotype. Copyright © 2010 Elsevier Inc. All rights reserved.

Computer-aided resource planning and scheduling for radiological services

NASA Astrophysics Data System (ADS)

Garcia, Hong-Mei C.; Yun, David Y.; Ge, Yiqun; Khan, Javed I.

1996-05-01

There exists tremendous opportunity in hospital-wide resource optimization based on system integration. This paper defines the resource planning and scheduling requirements integral to PACS, RIS and HIS integration. An multi-site case study is conducted to define the requirements. A well-tested planning and scheduling methodology, called Constrained Resource Planning model, has been applied to the chosen problem of radiological service optimization. This investigation focuses on resource optimization issues for minimizing the turnaround time to increase clinical efficiency and customer satisfaction, particularly in cases where the scheduling of multiple exams are required for a patient. How best to combine the information system efficiency and human intelligence in improving radiological services is described. Finally, an architecture for interfacing a computer-aided resource planning and scheduling tool with the existing PACS, HIS and RIS implementation is presented.

Heritability of specific language impairment depends on diagnostic criteria.

PubMed

Bishop, D V M; Hayiou-Thomas, M E

2008-04-01

Heritability estimates for specific language impairment (SLI) have been inconsistent. Four twin studies reported heritability of 0.5 or more, but a recent report from the Twins Early Development Study found negligible genetic influence in 4-year-olds. We considered whether the method of ascertainment influenced results and found substantially higher heritability if SLI was defined in terms of referral to speech and language pathology services than if defined by language test scores. Further analysis showed that presence of speech difficulties played a major role in determining whether a child had contact with services. Childhood language disorders that are identified by population screening are likely to have a different phenotype and different etiology from clinically referred cases. Genetic studies are more likely to find high heritability if they focus on cases who have speech difficulties and who have been referred for intervention.

A case of thanatophoric dysplasia type 2: a novel mutation.

PubMed

Gülaşı, Selvi; Atıcı, Aytuğ; Çelik, Yalçın

2015-03-01

Thanatophoric dysplasia (TD) is a lethal form of skeletal dysplasia with short-limb dwarfism. Two types distinguished with their radiological characteristics have been defined clinically. The femur is curved in type 1, while it is straight in type 2. TD is known to be due to a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. We report a male patient who showed clinical findings congruent with TD type 2 and a new mutation in the FGFR3 gene, a finding which has not been reported previously.

Novel Application of a Reverse Triage Protocol Providing Increased Access to Care in an Outpatient, Primary Care Clinic Setting.

PubMed

Sacino, Amanda N; Shuster, Jonathan J; Nowicki, Kamil; Carek, Peter J; Wegman, Martin P; Listhaus, Alyson; Gibney, Joseph M; Chang, Ku-Lang

2016-02-01

As the number of patients with access to care increases, outpatient clinics will need to implement innovative strategies to maintain or enhance clinic efficiency. One viable alternative involves reverse triage. A reverse triage protocol was implemented during a student-run free clinic. Each patient's chief complaint(s) were obtained at the beginning of the clinic session and ranked by increasing complexity. "Complexity" was defined as the subjective amount of time required to provide a full, thorough evaluation of a patient. Less complex cases were prioritized first since they could be expedited through clinic processing and allow for more time and resources to be dedicated to complex cases. Descriptive statistics were used to characterize and summarize the data obtained. Categorical variables were analyzed using chi-square. A time series analysis of the outcome versus centered time in weeks was also conducted. The average number of patients seen per clinic session increased by 35% (9.5 versus 12.8) from pre-implementation of the reverse triage protocol to 6 months after the implementation of the protocol. The implementation of a reverse triage in an outpatient setting significantly increased clinic efficiency as noted by a significant increase in the number of patients seen during a clinic session.

Epidemiology of Japanese encephalitis in the Philippines: a systematic review.

PubMed

Lopez, Anna Lena; Aldaba, Josephine G; Roque, Vito G; Tandoc, Amado O; Sy, Ava Kristy; Espino, Fe Esperanza; DeQuiroz-Castro, Maricel; Jee, Youngmee; Ducusin, Maria Joyce; Fox, Kimberley K

2015-03-01

Japanese encephalitis virus (JEV) is an important cause of encephalitis in most of Asia, with high case fatality rates and often significant neurologic sequelae among survivors. The epidemiology of JE in the Philippines is not well defined. To support consideration of JE vaccine for introduction into the national schedule in the Philippines, we conducted a systematic literature review and summarized JE surveillance data from 2011 to 2014. We conducted searches on Japanese encephalitis and the Philippines in four databases and one library. Data from acute encephalitis syndrome (AES) and JE surveillance and from the national reference laboratory from January 2011 to March 2014 were tabulated and mapped. We identified 29 published reports and presentations on JE in the Philippines, including 5 serologic surveys, 18 reports of clinical cases, and 8 animal studies (including two with both clinical cases and animal data). The 18 clinical studies reported 257 cases of laboratory-confirmed JE from 1972 to 2013. JE virus (JEV) was the causative agent in 7% to 18% of cases of clinical meningitis and encephalitis combined, and 16% to 40% of clinical encephalitis cases. JE predominantly affected children under 15 years of age and 6% to 7% of cases resulted in death. Surveillance data from January 2011 to March 2014 identified 73 (15%) laboratory-confirmed JE cases out of 497 cases tested. This comprehensive review demonstrates the endemicity and extensive geographic range of JE in the Philippines, and supports the use of JE vaccine in the country. Continued and improved surveillance with laboratory confirmation is needed to systematically quantify the burden of JE, to provide information that can guide prioritization of high risk areas in the country and determination of appropriate age and schedule of vaccine introduction, and to measure the impact of preventive measures including immunization against this important public health threat.

Epidemiology of Japanese Encephalitis in the Philippines: A Systematic Review

PubMed Central

Lopez, Anna Lena; Aldaba, Josephine G.; Roque, Vito G.; Tandoc, Amado O.; Sy, Ava Kristy; Espino, Fe Esperanza; DeQuiroz-Castro, Maricel; Jee, Youngmee; Ducusin, Maria Joyce; Fox, Kimberley K.

2015-01-01

Background Japanese encephalitis virus (JEV) is an important cause of encephalitis in most of Asia, with high case fatality rates and often significant neurologic sequelae among survivors. The epidemiology of JE in the Philippines is not well defined. To support consideration of JE vaccine for introduction into the national schedule in the Philippines, we conducted a systematic literature review and summarized JE surveillance data from 2011 to 2014. Methods We conducted searches on Japanese encephalitis and the Philippines in four databases and one library. Data from acute encephalitis syndrome (AES) and JE surveillance and from the national reference laboratory from January 2011 to March 2014 were tabulated and mapped. Results We identified 29 published reports and presentations on JE in the Philippines, including 5 serologic surveys, 18 reports of clinical cases, and 8 animal studies (including two with both clinical cases and animal data). The 18 clinical studies reported 257 cases of laboratory-confirmed JE from 1972 to 2013. JE virus (JEV) was the causative agent in 7% to 18% of cases of clinical meningitis and encephalitis combined, and 16% to 40% of clinical encephalitis cases. JE predominantly affected children under 15 years of age and 6% to 7% of cases resulted in death. Surveillance data from January 2011 to March 2014 identified 73 (15%) laboratory-confirmed JE cases out of 497 cases tested. Summary This comprehensive review demonstrates the endemicity and extensive geographic range of JE in the Philippines, and supports the use of JE vaccine in the country. Continued and improved surveillance with laboratory confirmation is needed to systematically quantify the burden of JE, to provide information that can guide prioritization of high risk areas in the country and determination of appropriate age and schedule of vaccine introduction, and to measure the impact of preventive measures including immunization against this important public health threat. PMID:25794009

Arthritis secondary to meningococcal disease: A case series of 7 patients.

PubMed

Masson-Behar, Vanina; Jacquier, Hervé; Richette, Pascal; Ziza, Jean-Marc; Zeller, Valérie; Rioux, Christophe; Coustet, Baptiste; Dieudé, Philippe; Ottaviani, Sébastien

2017-07-01

Arthritis secondary to invasive meningococcemia is rare and has been described as a direct result of bacteremia or as immunoallergic-type arthritis, related to the immune complex. Only a few case series have been reported.This multicenter study aimed to describe the clinical characteristics and therapeutic outcomes of arthritis secondary to meningococcal infection.We performed a 5-year retrospective study. We included all patients with inflammatory joint symptoms and proven meningococcal disease defined by the identification of Neisseria meningitidis in blood, cerebrospinal fluid, or synovial fluid. Septic arthritis was defined by the identification of N meningitidis in joint fluid. Immune-mediated arthritis was considered to be arthritis occurring after at least 1 day of invasive meningococcal disease without positive joint fluid culture.A total of 7 patients (5 males) with joint symptoms and meningococcal disease were identified. The clinical presentation was mainly oligoarticular and the knee was the most frequent joint site. Five patients had septic arthritis and 4 had immune-mediated arthritis; 2 had septic arthritis followed by immune-mediated arthritis. Immune-mediated arthritis occurred 3 to 7 days after meningococcal meningitis, and treatment with nonsteroidal anti-inflammatory drugs (NSAIDs) led to improvement without complications.Physicians must be vigilant to the different clinical presentations in patients with arthritis associated with invasive meningococcal disease. If immune-mediated arthritis is suspected, NSAIDs are usually efficient.

Disordered vertebral and rib morphology in pudgy mice. Structural relationships to human scoliosis.

PubMed

Shapiro, Frederic

2016-01-01

Normal and abnormal vertebral development have been studied over the past 200 years at increasing levels of resolution as techniques for biological investigation have improved. Disordered development of the axial skeleton from the early embryonic period on leads to structurally malformed vertebrae and intervertebral discs and ribs causing the severe deformities of scoliosis, kyphosis, and kyphoscoliosis. Developmental malformation of the axial skeleton therefore has led to considerable biological and clinical interest. This work will detail our studies on the structural deformities of the vertebral column and adjacent ribs in the pudgy mouse [1] caused by mutations in the delta-like 3 (Dll3) gene of the Notch family [2]. While gene abnormalities in the pudgy mouse have been outlined, there has been no in-depth assessment of the histopathology of the pudgy vertebral and rib abnormalities that this study will provide. In addition, although congenital scoliosis has been recognized as a clinical problem since the mid-nineteenth century (1800s) [3] and accurately defined by radiography since the early twentieth century (1900s) [4-6], there have been few detailed histopathologic studies of human cases. We will also relate our histopathologic findings in the pudgy mouse to the histopathology of human vertebral and rib malformations in clinical cases of congenital scoliosis, one of which we defined in detail previously [7].

SANDS: A Service-Oriented Architecture for Clinical Decision Support in a National Health Information Network

PubMed Central

Wright, Adam; Sittig, Dean F.

2008-01-01

In this paper we describe and evaluate a new distributed architecture for clinical decision support called SANDS (Service-oriented Architecture for NHIN Decision Support), which leverages current health information exchange efforts and is based on the principles of a service-oriented architecture. The architecture allows disparate clinical information systems and clinical decision support systems to be seamlessly integrated over a network according to a set of interfaces and protocols described in this paper. The architecture described is fully defined and developed, and six use cases have been developed and tested using a prototype electronic health record which links to one of the existing prototype National Health Information Networks (NHIN): drug interaction checking, syndromic surveillance, diagnostic decision support, inappropriate prescribing in older adults, information at the point of care and a simple personal health record. Some of these use cases utilize existing decision support systems, which are either commercially or freely available at present, and developed outside of the SANDS project, while other use cases are based on decision support systems developed specifically for the project. Open source code for many of these components is available, and an open source reference parser is also available for comparison and testing of other clinical information systems and clinical decision support systems that wish to implement the SANDS architecture. PMID:18434256

Clinical results of primary malignant musculoskeletal tumor treated by wide resection and recycling autograft reconstruction using liquid nitrogen.

PubMed

Paholpak, Permsak; Sirichativapee, Winai; Wisanuyotin, Taweechok; Kosuwon, Weerachai; Jeeravipoolvarn, Polasak

2015-06-01

To evaluate the clinical results of primary malignant musculoskeletal tumors treated with wide resection and recycling autograft reconstruction using liquid nitrogen. We reviewed 12 patients who had a primary malignant bone and soft tissue tumor treated by wide resection and recycling autograft reconstruction using liquid nitrogen between March 2006 and March 2013. The results were judged by recurrence, functional status and complications. Functional status was assessed according to the Musculoskeletal Tumor Society Score (MSTSS). Clinical failure was defined as need for reoperation in order to change the type of reconstruction or to amputate, and the presence of local recurrence. The most common tumor was osteosarcoma (eight cases) followed by Ewing's sarcoma (two cases). The tibia was the most frequently involved skeletal site (six cases) followed by the femur (three cases). The median follow-up period was 32 months. In 12 patients, 7 were still alive without recurrence. There were 3 clinical failures: 1 local recurrence and 2 graft complications at 28, 51 and 20 months after reconstruction, respectively. The main complication was infection (three cases). All osteotomy sites were radiographic unions, and the union time was 8.2 ± 2.7 months. The mean ± SD MSTSS score was 79% ± 11%; excellent functional results were achieved in seven patients. Recycling autograft reconstruction using liquid nitrogen had favorable clinical outcomes in terms of functional status and local recurrence. This reconstruction method, therefore, represents a reasonable alternative for limb salvage surgery. © 2014 Wiley Publishing Asia Pty Ltd.

Incidence, prevalence, and survival of chronic pancreatitis: a population-based study.

PubMed

Yadav, Dhiraj; Timmons, Lawrence; Benson, Joanne T; Dierkhising, Ross A; Chari, Suresh T

2011-12-01

Population-based data on chronic pancreatitis (CP) in the United States are scarce. We determined incidence, prevalence, and survival of CP in Olmsted County, MN. Using Mayo Clinic Rochester's Medical Diagnostic Index followed by a detailed chart review, we identified 106 incident CP cases from 1977 to 2006 (89 clinical cases, 17 diagnosed only at autopsy); CP was defined by previously published Mayo Clinic criteria. We calculated age- and sex-adjusted incidence (for each decade) and prevalence rate (1 January 2006) per 100,000 population (adjusted to 2000 US White population). We compared the observed survival rate for patients with expected survival for age- and sex-matched Minnesota White population. Median age at diagnosis of CP was 58 years, 56% were male, and 51% had alcoholic CP. The overall (clinical cases or diagnosed only at autopsy) age- and sex-adjusted incidence was 4.05/100,000 person-years (95% confidence interval (CI) 3.27-4.83). The incidence rate for clinical cases increased significantly from 2.94/100,000 during 1977-1986 to 4.35/100,000 person-years during 1997-2006 (P<0.05) because of an increase in the incidence of alcoholic CP. There were 51 prevalent CP cases on 1 January 2006 (57% male, 53% alcoholic). The age- and sex-adjusted prevalence rate per 100,000 population was 41.76 (95% CI 30.21-53.32). At last follow-up, 50 patients were alive. Survival among CP patients was significantly lower than age- and sex-specific expected survival in Minnesota White population (P<0.001). Incidence and prevalence of CP are low, and ∼50% are alcohol related. The incidence of CP cases diagnosed during life is increasing. Survival of CP patients is lower than in the Minnesota White population.

Clinical and epidemiological features of human rabies cases in the Philippines: a review from 1987 to 2006.

PubMed

Dimaano, Efren M; Scholand, Stephen J; Alera, Maria Theresa P; Belandres, Domingo B

2011-07-01

Rabies viral infection causes a fatal encephalomyelitis. In humans, classic features include hydrophobia, aerophobia, hypersalivation, agitation, and neurological symptoms. In the Philippines, canine rabies contributes to a significant burden of human disease. We retrospectively reviewed the medical records of 1839 patients admitted to San Lazaro Hospital, Manila, Philippines between 1987 and 2006, with a clinical diagnosis of rabies. We used the World Health Organization case definition for clinical rabies, which is defined by the presence of hydrophobia. Male patients outnumbered females by 2.2 to 1 and twice the number of adults were affected compared with children. Most patients were indigent. Dog bites occurred more than cat bites (97.1% vs. 2.9%) and most cases were caused by a single bite (86.2%), compared to multiple bites (8.7%). Bites to the face, head, and neck led to shorter incubation times, yet the incubation period varied, with most cases (42.7%) occurring in the bracket of 91-365 days post-exposure. Clinical symptoms included hydrophobia in all cases, as per our case definition, and aerophobia in 95.5%; only 9.4% had fever, 9.2% exhibited restlessness, and 6.7% exhibited hypersalivation. Localized neurological symptoms included pain (4.1%), numbness (2.6%), and itching (2.3%). None of the patients received appropriate post-exposure prophylaxis (PEP). This study examines the largest cohort of rabies patients reported to-date. Better understanding of clinical disease manifestations may help in salvage efforts to save patients with rabies. Knowledge of epidemiological factors will improve preventative efforts to reduce suffering from rabies. Copyright © 2011 International Society for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

Analysis of the IgV(H) somatic mutations in splenic marginal zone lymphoma defines a group of unmutated cases with frequent 7q deletion and adverse clinical course.

PubMed

Algara, Patricia; Mateo, Marisol S; Sanchez-Beato, Margarita; Mollejo, Manuela; Navas, Immaculada C; Romero, Lourdes; Solé, Francesc; Salido, Marta; Florensa, Lourdes; Martínez, Pedro; Campo, Elias; Piris, Miguel A

2002-02-15

This study aimed to correlate the frequency of somatic mutations in the IgV(H) gene and the use of specific segments in the V(H) repertoire with the clinical and characteristic features of a series of 35 cases of splenic marginal zone lymphoma (SMZL). The cases were studied by seminested polymerase chain reaction by using primers from the FR1 and J(H) region. The results showed unexpected molecular heterogeneity in this entity, with 49% unmutated cases (less than 2% somatic mutations). The 7q31 deletions and a shorter overall survival were more frequent in this group. Additionally a high percentage (18 of 40 sequences) of SMZL cases showed usage of the V(H)1-2 segment, thereby emphasizing the singularity of this neoplasia, suggesting that this tumor derives from a highly selected B-cell population and encouraging the search for specific antigens that are pathogenically relevant in the genesis or progression of this tumor.

Alloimmune neonatal neutropenia due to anti-HNA-2a alloimmunization with severe and prolonged neutropenia but mild clinical course: two case reports.

PubMed

Tomicic, Maja; Starcevic, Mirta; Zach, Vanja; Hundric-Haspl, Zeljka

2007-10-01

Alloimmunization to granulocyte-specific antigens can occur during pregnancy. Maternal IgG can cross the placenta and result in neonatal neutropenia. The clinical course of alloimmune neonatal neutropenia is usually self-limiting with only mild infection. However, in severe cases complicated with bacterial sepsis it is a potentially life-threatening disorder. The effect of intravenous (IV) immunoglobulin, prophylactic antibiotic therapy, and recombinant human granulocyte-colony stimulating factor is variable and may prove useful in some cases. Two cases of alloimmune neonatal neutropenia due to anti HNA-2a alloimmunization in two siblings are reported. The first neonate was administered IV gammaglobulins to increase the blood neutrophil count, at a standard dosage (0.4 g/kg body weight) for 5 days without response. The second neonate did not receive specific therapy for blood neutrophil count increase. Neutropenia persisted for 2 and 6 months, respectively. The choice and efficacy of specific therapy for neutrophil count increase in the management of alloimmune neonatal neutropenia have not yet been fully defined and require additional evaluation in the majority of cases.

An unexpected tetanus case.

PubMed

Ergonul, Onder; Egeli, Demet; Kahyaoglu, Bulent; Bahar, Mois; Etienne, Mill; Bleck, Thomas

2016-06-01

1 million cases of tetanus are estimated to occur worldwide each year, with more than 200 000 deaths. Tetanus is a life-threatening but preventable disease caused by a toxin produced by Clostridium tetani-a Gram-positive bacillus found in high concentrations in soil and animal excrement. Tetanus is almost completely preventable by active immunisation, but very rarely unexpected cases can occur in individuals who have been previously vaccinated. We report a case of generalised tetanus in a 22-year-old woman that arose despite the protective antitoxin antibody in her serum. The patient received all her vaccinations in the USA; her last vaccination was 6 years ago. The case was unusual because the patient had received all standard vaccinations, had no defined port of entry at disease onset, and had symptoms lasting for 6 months. Tetanus can present with unusual clinical forms; therefore, the diagnosis and management of this rare but difficult disease should be updated. In this Grand Round, we review the clinical features, epidemiology, treatment, and prognosis of C tetani infections. Copyright © 2016 Elsevier Ltd. All rights reserved.

Atlas-guided prostate intensity modulated radiation therapy (IMRT) planning.

PubMed

Sheng, Yang; Li, Taoran; Zhang, You; Lee, W Robert; Yin, Fang-Fang; Ge, Yaorong; Wu, Q Jackie

2015-09-21

An atlas-based IMRT planning technique for prostate cancer was developed and evaluated. A multi-dose atlas was built based on the anatomy patterns of the patients, more specifically, the percent distance to the prostate and the concaveness angle formed by the seminal vesicles relative to the anterior-posterior axis. A 70-case dataset was classified using a k-medoids clustering analysis to recognize anatomy pattern variations in the dataset. The best classification, defined by the number of classes or medoids, was determined by the largest value of the average silhouette width. Reference plans from each class formed a multi-dose atlas. The atlas-guided planning (AGP) technique started with matching the new case anatomy pattern to one of the reference cases in the atlas; then a deformable registration between the atlas and new case anatomies transferred the dose from the atlas to the new case to guide inverse planning with full automation. 20 additional clinical cases were re-planned to evaluate the AGP technique. Dosimetric properties between AGP and clinical plans were evaluated. The classification analysis determined that the 5-case atlas would best represent anatomy patterns for the patient cohort. AGP took approximately 1 min on average (corresponding to 70 iterations of optimization) for all cases. When dosimetric parameters were compared, the differences between AGP and clinical plans were less than 3.5%, albeit some statistical significances observed: homogeneity index (p  >  0.05), conformity index (p  <  0.01), bladder gEUD (p  <  0.01), and rectum gEUD (p  =  0.02). Atlas-guided treatment planning is feasible and efficient. Atlas predicted dose can effectively guide the optimizer to achieve plan quality comparable to that of clinical plans.

[Radiologic picture of maxillary sinus aspergilloma].

PubMed

Kaczmarek, I; Bilska, J; Osmola, K; Nowaczyk, M T

2010-06-01

Mycotic infection of paranasal sinus could be the etiological factor of chronic sinusitis. The increase in number of fungal sinusitis cases have been reported recently among nonimmunocompromised patient after endodontic treatment of maxillary teeth. Nonspecific clinical signs and incorrect radiologic pictures interpretation as well as loss of therapeutic standards seems to be the cause of false negative diagnosis and difficulties in treatment of fungal sinusitis. Clinical and radiological picture of maxillary sinus aspergillosis was described in this paper. In the period of 2006-2009 in the Department of Maxillo-Facial Surgery 19 patient with fungal maxillary sinusitis was treated. The endodontic treatment of maxillary teeth of the related side was performed previously in 80% examined cases. In 2 cases there were immunocompromised patients with immunosuppressive treatment. In 16 cases patients were referred to our Department due to metallic foreign body of the maxillary sinus. Routine diagnostic radiological imaging was performed in each case: paranasal sinus view--Water's view and panoramic radiograph (orthopantomograph). In 4 cases imaging was extended with computer tomography (CT) visualization. The surgical treatment was performed in each case. The final diagnosis was puted on histopathological examination and fungal culture. In 16 cases of analysed group histopathological examination and fungal culture revealed aspergilosis. In 2 cases fungal culture was negative, but histopathology slices confirm presence of hyphae of Aspergillus. In 1 case the root canal sealer was found in the maxillary sinus. In none case invasive form of aspergillosis was confirmed. In all cases Water's view of paranasal sinuses and ortopantomograph showed partially or totally clouded sinus with well-defined, single or multifocal radiopaque object similar to metallic foreign body. Characteristic finding in CT imaging was well-defined radiodence concretions that have been attributed to calcium deposits in inflammatory changed mucosa, that might suggest "foreign body" picture. In 1 to 3 years follow-up control there was a recurrence of symptoms in one case. Foreign body of maxillary sinus have to be differentiated with aspergilosis. Metallic "foreign body" view in maxillary sinus seems to be characteristic sign of aspergillosis. The most often form of maxillary sinus aspergilosis is aspergilloma.

Optic Nerve Sheath Meningocele: A Case Report

PubMed Central

Halimi, E.; Wavreille, O.; Rosenberg, R.; Bouacha, I.; Lejeune, J.-P.; Defoort-Dhellemmes, S.

2013-01-01

Abstract Isolated optic nerve sheath meningocele is a rare affection defined as the cystic enlargement of the optic nerve sheath filled with cerebrospinal fluid. We report the case of a 39-year-old woman presenting with bilateral meningocele uncovered during a routine examination for headache complaints. A 5-year follow-up validated the lesion’s clinical and imaging stability. Magnetic resonance imaging (MRI) is an essential tool in the diagnosis of this pathology, alongside characteristic symptoms indicating that the meningocele might have progressively expanded into the orbit. In this case we present a therapeutic approach based on pathophysiological hypotheses and review of the literature. PMID:28163760

HPV RNA CISH score identifies two prognostic groups in a p16 positive oropharyngeal squamous cell carcinoma population.

PubMed

Augustin, Jérémy; Mandavit, Marion; Outh-Gauer, Sophie; Grard, Ophélie; Gasne, Cassandre; Lépine, Charles; Mirghani, Haïtham; Hans, Stéphane; Bonfils, Pierre; Denize, Thomas; Bruneval, Patrick; Bishop, Justin A; Fontugne, Jacqueline; Péré, Hélène; Tartour, Eric; Badoual, Cécile

2018-06-20

HPV-related and HPV-unrelated oropharyngeal squamous cell carcinomas are two distinct entities according to the Union for International Cancer Control, with a better prognosis conferred to HPV-related oropharyngeal squamous cell carcinomas. However, variable clinical outcomes are observed among patients with p16 positive oropharyngeal squamous cell carcinoma, which is a surrogate marker of HPV infection. We aimed to investigate the prognostic value of RNA CISH against E6 and E7 transcripts (HPV RNA CISH) to predict such variability. We retrospectively included 50 histologically confirmed p16 positive oropharyngeal squamous cell carcinomas (p16 positive immunostaining was defined by a strong staining in 70% or more of tumor cells). HPV RNA CISH staining was assessed semi-quantitatively to define two scores: RNA CISH "low" and RNA CISH "high". Negative HPV RNA CISH cases were scored as RNA CISH "low". This series contained 29 RNA CISH low cases (58%) and 21 RNA CISH high cases (42%). Clinical and pathologic baseline characteristics were similar between the two groups. RNA CISH high staining was associated with a better overall survival in both univariate and multivariate analyses (p = 0.033 and p = 0.042, respectively). Other recorded parameters had no prognostic value. In conclusion, HPV RNA CISH might be an independent prognostic marker in p16 positive oropharyngeal squamous cell carcinomas and might help guide therapeutics.

Sudden asphyxial death complicating infectious mononucleosis.

PubMed

Boglioli, L R; Taff, M L

1998-06-01

Infectious mononucleosis (IM) is a disease traditionally defined by a triad of clinical, laboratory, and serologic factors. It is typically a benign, self-limited disease of children and young adults. Upper airway obstruction is a rare but potentially fatal complication of IM resulting from massive tonsillar enlargement, pharyngeal edema, or both. We report a case of sudden death due to airway obstruction in IM.

Eosinophilic panniculitis.

PubMed

Samlaska, C P; de Lorimier, A J; Heldman, L S

1995-03-01

Eosinophillic panniculitis is a poorly defined entity with variable clinical features. We report a case of rapidly enlarging, asymptomatic subcutaneous scalp nodules in a 6-year-old black boy with atopic dermatitis. The nodules resolved spontaneously over two to three days. Biopsy specimens were remarkable for eosinophilic panniculitis without evidence of epidermal change or vasculitis. We believe that this is the youngest reported patient with this disorder.

[Trichotillomania involving the eyelashes: about a case].

PubMed

Touzani, Khadija Drissi; Lamari, Zineb; Chraibi, Fouad; Abdellaoui, Meryem; Andaloussi, Idriss Benatiya

2017-01-01

Trichotillomania is a neglected psychiatric disorder characterized by the urge to pull out the hair, the eyebrows or any other hair, but rarely the eyelashes. In the Diagnostic and Statistical Manual of Mental Disorders it is defined as habits and pulses disturbance. We here report the case of a girl with trichotillomania involving her left eyelashes due to low self-esteem. The disease may be episodic but it is usually chronic and difficult to treat. Given the possible clinical and psychiatric complications, early and accurate diagnosis is essential. Cognitive-behavioral therapy is the gold standard treatment.

The role of clinical pharmacology in molecular genetics

NASA Technical Reports Server (NTRS)

Robertson, D.

1997-01-01

PROBLEM: Discovering the causes of unusual phenotypes in human subjects is an important aspect of patient-oriented research. MATERIAL: The tools of clinical pharmacology are uniquely useful in addressing these problems. PATIENTS, SUBJECTS, OR CASE HISTORIES: We evaluated a 42-year-old patient with lifelong orthostatic hypotension and ptosis of the eyelids. He underwent a series of biochemical, physiological, and pharmacological tests outlined in this article. RESULTS: These studies indicated that sympathetic innervation was intact but that the sympathetic neurotransmitter was dopamine rather than norepinephrine. These results demonstrated that dopamine-beta-hydroxylase deficiency underlies the clinical abnormalities of this patient. CONCLUSION: In selected individuals with unusual phenotypes, the techniques of clinical chemistry and clinical pharmacology can define the nature of the defect at almost the resolution of the human genome.

Assessment of Telemedicine in Surgical Education and Patient Care

PubMed Central

Demartines, Nicolas; Mutter, Didier; Vix, Michel; Leroy, Joël; Glatz, Dieter; Rösel, Fritz; Harder, Felix; Marescaux, Jacques

2000-01-01

Objective To analyze the value of teleconferencing for patient care and surgical education by assessing the activity of an international academic network. Summary Background Data The uses of telemedicine include teleeducation, training, and consulting, and surgical teams are now involved, sharing diagnostic information and opinions without the need for travel. However, the value of telematics in surgery remains to be assessed. Methods During a 2-year period, weekly surgical teleconferences were held among six university hospitals in four European countries. To assess the accuracy of telediagnosis for surgical cases, 60 randomly selected cases were analyzed by a panel of surgeons. Participants’ opinions were analyzed by questionnaire. Results Seventy teleconferences (50 lectures and 271 case presentations) were held. Ninety-five of the 114 participants (83.3%) completed the final questionnaire. Eighty-six percent rated the surgical activity as good or excellent, 75.7% rated the scientific level as good or excellent, 55.8% rated the daily clinical activity as good or excellent, and 28.4% rated the manual surgical technique as good or excellent. The target organ was identified in all the cases; the organ structure and pathology were considered well defined in 93.3%, and the fine structure was considered well defined in 58.3%. Diagnosis was accurate in 17 cases (28.3%), probable in 25 (41.7%), possible but uncertain in 16 (26.7%), and not possible in 2 cases (3.3%). Discussion among the remote sites increased the rate of valuable therapeutic advice from 55% of cases before the discussion to 95% after the discussion. Eighty-six percent of the surgeons expressed satisfaction with telematics for medical education and patient care. Conclusions Participant satisfaction was high, transmission of clinical documents was accurate, and the opportunity to discuss case documentation and management significantly improved diagnostic potential, resulting in an accuracy rate of up to 95%. Teleeducation and teleconsultation in surgery appear to be beneficial. PMID:10674622

Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes.

PubMed

Rubio-Cabezas, O; Edghill, E L; Argente, J; Hattersley, A T

2009-10-01

Monogenic diabetes is frequently misdiagnosed as Type 1 diabetes. We aimed to screen for undiagnosed monogenic diabetes in a cohort of children who had a clinical diagnosis of Type 1 diabetes but were pancreatic autoantibody-negative. We studied 252 patients diagnosed clinically with Type 1 diabetes between 6 months and 17 years of age. Pancreatic autoantibodies [islet cell autoantibodies (ICA), glutamic acid decarboxylase antibodies (GADA) and/or insulinoma-associated antigen-2 antibodies (IA2A)] were absent in 25 cases (9.9%). The most frequent genes involved in monogenic diabetes [KCNJ11 and INS for neonatal diabetes and HNF1A and HNF4A for maturity-onset diabetes of the young (MODY)] were directly sequenced. Two of the 25 (8%) antibody-negative patients had de novo heterozygous mutations in INS; c.94G>A (G32S) and c.265C>T (R89C). The two patients presented with non-ketotic hyperglycaemia at 8 and 11 months of age. In contrast, the four antibody-positive patients who presented at a similar age (6-12 months) had a more severe metabolic derangement, manifested as ketosis in all four cases, with ketoacidosis in two. At ages 15 and 5 years, both INS mutation patients were prescribed a replacement dose of insulin with good glycaemic control [glycated haemoglobin (HbA(1c)) 7.0 and 7.2%]. No mutations were found in KCNJ11, HNF1A or HNF4A. The identification of patients with monogenic diabetes from children with clinically defined Type 1 diabetes may be helped by clinical criteria including the absence of pancreatic autoantibodies.

Clinical, pathological, and molecular data on desmoplastic/nodular medulloblastoma: case studies and a review of the literature.

PubMed

Siegfried, Aurore; Bertozzi, Anne Isabelle; Bourdeaut, Franck; Sevely, Annick; Loukh, Najat; Grison, Camille; Miquel, Catherine; Lafon, Delphine; Sevenet, Nicolas; Pietsch, Torsten; Dufour, Christelle; Delisle, Marie-Bernadette

2016-01-01

The aim of this study was to better define the clinical and biopathological features of patients with desmoplastic/nodular medulloblastoma (DNMB) and to further characterize this subgroup. 17 children aged < 5 years, with initial DNMB treated according to the HIT-SKK protocol, were evaluated. A retrospective central radiological review, a pathological and immunohistochemical study, and array-CGH and sequencing of germline SUFU and PTCH1 genes were performed. 15 histologically reviewed cases were confirmed as DNMB including three cases of medulloblastoma with extensive nodularity. Median age at diagnosis was 26 months. Radiology showed five cases with a vermis location and one with T2 hyperintensity. All cases showed a SHH immunoprofile. A 9q deletion was found in 6 cases, a MYCN-MYCL amplification in 1 case, and a SUFU germline mutation in 1 case (/9). The presence of SUFU and PTCH1 germline mutations agreed with previous reports. At 3 years, progression-free survival and overallsurvival rates were 72 ± 15% and 85 ± 10%, respectively. The rate of recurrence was relatively high (4 patients). This may have been because chemotherapy was delayed in two cases. Age > 3 years, and residual tumor may also have been an explanation for recurrence.

Clinical, pathological, and molecular data on desmoplastic/nodular medulloblastoma: case studies and a review of the literature

PubMed Central

Siegfried, Aurore; Bertozzi, Anne Isabelle; Bourdeaut, Franck; Sevely, Annick; Loukh, Najat; Grison, Camille; Miquel, Catherine; Lafon, Delphine; Sevenet, Nicolas; Pietsch, Torsten; Dufour, Christelle; Delisle, Marie-Bernadette

2016-01-01

The aim of this study was to better define the clinical and biopathological features of patients with desmoplastic/nodular medulloblastoma (DNMB) and to further characterize this subgroup. 17 children aged < 5 years, with initial DNMB treated according to the HIT-SKK protocol, were evaluated. A retrospective central radiological review, a pathological and immunohistochemical study, and array-CGH and sequencing of germline SUFU and PTCH1 genes were performed. 15 histologically reviewed cases were confirmed as DNMB including three cases of medulloblastoma with extensive nodularity. Median age at diagnosis was 26 months. Radiology showed five cases with a vermis location and one with T2 hyperintensity. All cases showed a SHH immuno-profile. A 9q deletion was found in 6 cases, a MYCN–MYCL amplification in 1 case, and a SUFU germline mutation in 1 case (/9). The presence of SUFU and PTCH1 germline mutations agreed with previous reports. At 3 years, progression-free survival and overall-survival rates were 72 ± 15% and 85 ± 10%, respectively. The rate of recurrence was relatively high (4 patients). This may have been because chemotherapy was delayed in two cases. Age > 3 years, and residual tumor may also have been an explanation for recurrence. PMID:26857864

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

Doros, Attila, E-mail: dorattila@yahoo.com; Nemeth, Andrea; Deak, Akos Pal

The role of covered stent in the management of biliary complications is not yet defined in liver transplant recipients. This Case Report presents a patient with anastomotic stricture and leakage with biloma treated with a covered stent 32 months following liver transplantation. Signs of in-stent restenosis developed 52 months following covered stent placement, which was resolved by balloon dilation. There were no complications during the interventions. The latest follow-up, at 69 months following primary and 19 months following secondary percutaneous intervention, shows a patent covered stent without any clinical or morphological sign of further restenosis. The clinical success with long-termmore » follow-up data suggests that covered stent implantation can be a rational, minimally invasive option for simultaneous treatment of bile duct stenosis and bile leak following liver transplantation in selected cases.« less

[Ewing sarcoma located in the mandible: A case report].

PubMed

Hernandez, M; Droz, D; Mansuy, L; Simon, E; Chastagner, P

2015-06-01

Ewing sarcoma is the second most common primary malignant bone cancer in children and adolescents. Clinical presentation is usually dominated by local pain and a palpable mass. These symptoms justify imaging investigations: the first one, when an osseous lesion is suspected, is usually a conventional radiograph in two planes. Ewing sarcoma appears as a poorly defined osteolytic lesion that may frequently be associated with cortical erosion or laminar periosteal response ("onion skin"). However, this aspect is not pathognomonic and the definitive diagnosis is made by biopsy. Absence of pain or an unusual localization can lead to misdiagnosis. We report the case of a 7-year-old boy with Ewing sarcoma located in the mandible with a clinical picture including progressive mandibular swelling but no pain. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

SANDS: a service-oriented architecture for clinical decision support in a National Health Information Network.

PubMed

Wright, Adam; Sittig, Dean F

2008-12-01

In this paper, we describe and evaluate a new distributed architecture for clinical decision support called SANDS (Service-oriented Architecture for NHIN Decision Support), which leverages current health information exchange efforts and is based on the principles of a service-oriented architecture. The architecture allows disparate clinical information systems and clinical decision support systems to be seamlessly integrated over a network according to a set of interfaces and protocols described in this paper. The architecture described is fully defined and developed, and six use cases have been developed and tested using a prototype electronic health record which links to one of the existing prototype National Health Information Networks (NHIN): drug interaction checking, syndromic surveillance, diagnostic decision support, inappropriate prescribing in older adults, information at the point of care and a simple personal health record. Some of these use cases utilize existing decision support systems, which are either commercially or freely available at present, and developed outside of the SANDS project, while other use cases are based on decision support systems developed specifically for the project. Open source code for many of these components is available, and an open source reference parser is also available for comparison and testing of other clinical information systems and clinical decision support systems that wish to implement the SANDS architecture. The SANDS architecture for decision support has several significant advantages over other architectures for clinical decision support. The most salient of these are:

The incremental impact of cardiac MRI on clinical decision-making.

PubMed

Rajwani, Adil; Stewart, Michael J; Richardson, James D; Child, Nicholas M; Maredia, Neil

2016-01-01

Despite a significant expansion in the use of cardiac MRI (CMR), there is inadequate evaluation of its incremental impact on clinical decision-making over and above other well-established modalities. We sought to determine the incremental utility of CMR in routine practice. 629 consecutive CMR studies referred by 44 clinicians from 9 institutions were evaluated. Pre-defined algorithms were used to determine the incremental influence on diagnostic thinking, influence on clinical management and thus the overall clinical utility. Studies were also subdivided and evaluated according to the indication for CMR. CMR provided incremental information to the clinician in 85% of cases, with incremental influence on diagnostic thinking in 85% of cases and incremental impact on management in 42% of cases. The overall incremental utility of CMR exceeded 90% in 7 out of the 13 indications, whereas in settings such as the evaluation of unexplained ventricular arrhythmia or mild left ventricular systolic dysfunction, this was <50%. CMR was frequently able to inform and influence decision-making in routine clinical practice, even with analyses that accepted only incremental clinical information and excluded a redundant duplication of imaging. Significant variations in yield were noted according to the indication for CMR. These data support a wider integration of CMR services into cardiac imaging departments. These data are the first to objectively evaluate the incremental value of a UK CMR service in clinical decision-making. Such data are essential when seeking justification for a CMR service.

Potential Applications of the National Institute of Mental Health's Research Domain Criteria (RDoC) to Clinical Psychiatric Practice: How RDoC Might Be Used in Assessment, Diagnostic Processes, Case Formulation, Treatment Planning, and Clinical Notes.

PubMed

Yager, Joel; Feinstein, Robert E

2017-04-01

Offering a new framework for understanding and studying basic dimensions of normal and abnormal human functioning and mental disorders, the National Institute of Mental Health (NIMH) has initiated the Research Domain Criteria (RDoC) project in which a series of higher order domains, representing major systems of emotion, cognition, motivation, and social behavior, and their constituent operationally defined constructs serve as organizing templates for further research and inquiry, eg, to discover validated biomarkers and endophenotypes. Cutting across traditional DSM diagnoses, the domains are defined as Negative Valence Systems, Positive Valence Systems, Cognitive Systems, Systems for Social Processes, and Arousal/Regulatory Systems. To inform educators, trainees, and practitioners about RDoC, alert them to potential practical applications, and encourage their broad exploration in clinical settings, this article reviews the RDoC domains and their subsystem constructs with regard to potential current clinical considerations and applications. We describe ways in which the RDoC domains and constructs offer transdiagnostic frameworks for complementing traditional practice; suggest clinical questions to help elucidate salient information; and, translating RDoC domains and constructs headings into clinically friendly language, offer a template for the psychiatric review of systems that can serve in clinical notes. © Copyright 2017 Physicians Postgraduate Press, Inc.

Association between COMT Val158Met and psychiatric disorders: A comprehensive meta-analysis.

PubMed

Taylor, Steven

2018-03-01

Catechol-O-methyltransferase (COMT) Val158Met is widely regarded as potentially important for understanding the genetic etiology of many different psychiatric disorders. The present study appears to be the first comprehensive meta-analysis of COMT genetic association studies to cover all psychiatric disorders for which there were available data, published in any language, and with an emphasis on investigating disorder subtypes (defined clinically or by demographic or other variables). Studies were included if they reported one or more datasets (i.e., some studies examined more than one clinical group) in which there were sufficient information to compute effect sizes. A total of 363 datasets were included, consisting of 56,998 cases and 74,668 healthy controls from case control studies, and 2,547 trios from family based studies. Fifteen disorders were included. Attention-deficit hyperactivity disorder and panic disorder were associated with the Val allele for Caucasian samples. Substance-use disorder, defined by DSM-IV criteria, was associated with the Val allele for Asian samples. Bipolar disorder was associated with the Met allele in Asian samples. Obsessive-compulsive disorder tended to be associated with the Met allele only for males. There was suggestive evidence that the Met allele is associated with an earlier age of onset of schizophrenia. Results suggest pleiotropy and underscore the importance of examining subgroups-defined by variables such as age of onset, sex, ethnicity, and diagnostic system-rather than examining disorders as monolithic constructs. © 2017 Wiley Periodicals, Inc.

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

PubMed

Fattori, Fabiana; Maggi, Lorenzo; Bruno, Claudio; Cassandrini, Denise; Codemo, Valentina; Catteruccia, Michela; Tasca, Giorgio; Berardinelli, Angela; Magri, Francesca; Pane, Marika; Rubegni, Anna; Santoro, Lucio; Ruggiero, Lucia; Fiorini, Patrizio; Pini, Antonella; Mongini, Tiziana; Messina, Sonia; Brisca, Giacomo; Colombo, Irene; Astrea, Guja; Fiorillo, Chiara; Bragato, Cinzia; Moroni, Isabella; Pegoraro, Elena; D'Apice, Maria Rosaria; Alfei, Enrico; Mora, Marina; Morandi, Lucia; Donati, Alice; Evilä, Anni; Vihola, Anna; Udd, Bjarne; Bernansconi, Pia; Mercuri, Eugenio; Santorelli, Filippo Maria; Bertini, Enrico; D'Amico, Adele

2015-07-01

Centronuclear myopathies (CNMs) are a group of clinically and genetically heterogeneous muscle disorders. To date, mutation in 7 different genes has been reported to cause CNMs but 30 % of cases still remain genetically undefined. Genetic investigations are often expensive and time consuming. Clinical and morphological clues are needed to facilitate genetic tests and to choose the best approach for genetic screening. We aimed to describe genotype-phenotype correlation in an Italian cohort of patients affected by CNMs, to define the relative frequencies of its defined genetic forms and to draw a diagnostic algorithm to address genetic investigations. We recruited patients with CNMs from all the Italian tertiary neuromuscular centers following clinical and histological criteria. All selected patients were screened for the four 'canonical' genes related to CNMs: MTM1, DNM2, RYR1 and BIN1. Pathogenetic mutations were found in 38 of the 54 screened patients (70 %), mostly in patients with congenital onset (25 of 30 patients, 83 %): 15 in MTM1, 6 in DNM2, 3 in RYR1 and one in TTN. Among the 13 patients with a childhood-adolescence onset, mutations were found in 6 patients (46 %), all in DNM2. In the group of the 11 patients with adult onset, mutations were identified in 7 patients (63 %), again in DNM2, confirming that variants in this gene are relatively more common in late-onset phenotypes. The present study provides the relative molecular frequency of centronuclear myopathy and of its genetically defined forms in Italy and also proposes a diagnostic algorithm to be used in clinical practice to address genetic investigations.

Depression, anxiety, and prevalent diabetes in the Chinese population: Findings from the China Kadoorie Biobank of 0.5 million people

PubMed Central

Mezuk, Briana; Chen, Yiping; Yu, Canqing; Guo, Yu; Bian, Zheng; Collins, Rory; Chen, Junshi; Pang, Zengchang; Wang, Huijun; Peto, Richard; Que, Xiangsan; Zhang, Hui; Tan, Zhongwen; Kendler, Kenneth S.; Li, Liming; Chen, Zhengming

2013-01-01

Objective Despite previous investigation, uncertainty remains about the nature of the associations of major depression (MD) with type 2 diabetes mellitus (T2DM), particularly in adult Chinese, and the relevance of generalized anxiety disorder (GAD) for T2DM. Methods Cross-sectional data from the China Kadoorie Biobank Study, a sample of approximately 500,000 adults from 10 geographically defined regions of China, were analyzed. Past year MD and GAD were assessed using the Composite International Diagnostic Inventory. T2DM was defined as either having self-reported physician diagnosis of diabetes at age 30 or later (“clinically-identified” cases) or having a non-fasting blood glucose ≥11.1 mmol/L or fasting blood glucose ≥7.0 mmol/L but no prior diagnosis of diabetes (“screen-detected” cases). Logistic regression was used to assess the relationship between MD and GAD with clinically-identified and screen-detected T2DM, adjusting for demographic characteristics and health behaviors. Results The prevalence of T2DM was 5.3% (3.2% clinically-identified and 2.1% screen-detected). MD was significantly associated with clinically-identified T2DM (Odds ratio [OR]: 1.75, 95% Confidence Interval (CI): 1.47 – 2.08), but not with screen-detected T2DM (OR: 1.18, 95% CI: 0.92 – 1.51). GAD was associated with both clinically-identified (OR: 2.14, 95% CI: 1.60 – 2.88) and screen-detected (OR: 1.44, 95% CI: 0.99 – 2.08) T2DM. The relationship between MD and GAD with T2DM was moderated by obesity. Conclusion MD is associated with clinically-identified, but not screen-detected T2DM. GAD is associated with both clinically-identified and screen-detected T2DM. The relationship between MD and T2DM is strongest among those who are not obese. PMID:24290039

Cross-validation of clinical characteristics and treatment patterns associated with phenotypes for lithium response defined by the Alda scale.

PubMed

Scott, Jan; Geoffroy, Pierre Alexis; Sportiche, Sarah; Brichant-Petit-Jean, Clara; Gard, Sebastien; Kahn, Jean-Pierre; Azorin, Jean-Michel; Henry, Chantal; Etain, Bruno; Bellivier, Frank

2017-01-15

It is increasingly recognised that reliable and valid assessments of lithium response are needed in order to target more efficiently the use of this medication in bipolar disorders (BD) and to identify genotypes, endophenotypes and biomarkers of response. In a large, multi-centre, clinically representative sample of 300 cases of BD, we assess external clinical validators of lithium response phenotypes as defined using three different recommended approaches to scoring the Alda lithium response scale. The scale comprises an A scale (rating lithium response) and a B scale (assessing confounders). Analysis of the two continuous scoring methods (A scale score minus the B scale score, or A scale score in those with a low B scale score) demonstrated that 21-23% of the explained variance in lithium response was accounted for by a positive family history of BD I and the early introduction of lithium. Categorical definitions of response suggest poor response is also associated with a positive history of alcohol and/or substance use comorbidities. High B scale scores were significantly associated with longer duration of illness prior to receiving lithium and the presence of psychotic symptoms. The original sample was not recruited specifically to study lithium response. The Alda scale is designed to assess response retrospectively. This cross-validation study identifies different clinical phenotypes of lithium response when defined by continuous or categorical measures. Future clinical, genetic and biomarker studies should report both the findings and the method employed to assess lithium response according to the Alda scale. Copyright © 2016 Elsevier B.V. All rights reserved.

Empirical Derivation and Validation of a Clinical Case Definition for Neuropsychological Impairment in Children and Adolescents.

PubMed

Beauchamp, Miriam H; Brooks, Brian L; Barrowman, Nick; Aglipay, Mary; Keightley, Michelle; Anderson, Peter; Yeates, Keith O; Osmond, Martin H; Zemek, Roger

2015-09-01

Neuropsychological assessment aims to identify individual performance profiles in multiple domains of cognitive functioning; however, substantial variation exists in how deficits are defined and what cutoffs are used, and there is no universally accepted definition of neuropsychological impairment. The aim of this study was to derive and validate a clinical case definition rule to identify neuropsychological impairment in children and adolescents. An existing normative pediatric sample was used to calculate base rates of abnormal functioning on eight measures covering six domains of neuropsychological functioning. The dataset was analyzed by varying the range of cutoff levels [1, 1.5, and 2 standard deviations (SDs) below the mean] and number of indicators of impairment. The derived rule was evaluated by bootstrap, internal and external clinical validation (orthopedic and traumatic brain injury). Our neuropsychological impairment (NPI) rule was defined as "two or more test scores that fall 1.5 SDs below the mean." The rule identifies 5.1% of the total sample as impaired in the assessment battery and consistently targets between 3 and 7% of the population as impaired even when age, domains, and number of tests are varied. The NPI rate increases in groups known to exhibit cognitive deficits. The NPI rule provides a psychometrically derived method for interpreting performance across multiple tests and may be used in children 6-18 years. The rule may be useful to clinicians and scientists who wish to establish whether specific individuals or clinical populations present within expected norms versus impaired function across a battery of neuropsychological tests.

Higher frequencies of HLA DQB1*05:01 and anti-glycosphingolipid antibodies in a cluster of severe Guillain-Barré syndrome.

PubMed

Schirmer, L; Worthington, V; Solloch, U; Loleit, V; Grummel, V; Lakdawala, N; Grant, D; Wassmuth, R; Schmidt, A H; Gebhardt, F; Andlauer, T F M; Sauter, J; Berthele, A; Lunn, M P; Hemmer, Bernhard

2016-10-01

Few regional and seasonal Guillain-Barré syndrome (GBS) clusters have been reported so far. It is unknown whether patients suffering from sporadic GBS differ from GBS clusters with respect to clinical and paraclinical parameters, HLA association and antibody response to glycosphingolipids and Campylobacter jejuni (Cj). We examined 40 consecutive patients with GBS from the greater Munich area in Germany with 14 of those admitted within a period of 3 months in fall 2010 defining a cluster of GBS. Sequencing-based HLA typing of the HLA genes DRB1, DQB1, and DPB1 was performed, and ELISA for anti-glycosphingolipid antibodies was carried out. Clinical and paraclinical findings (Cj seroreactivity, cerebrospinal fluid parameters, and electrophysiology) were obtained and analyzed. GBS cluster patients were characterized by a more severe clinical phenotype with more patients requiring mechanical ventilation and higher frequencies of autoantibodies against sulfatide, GalC and certain ganglioside epitopes (54 %) as compared to sporadic GBS cases (13 %, p = 0.017). Cj seropositivity tended to be higher within GBS cluster patients (69 %) as compared to sporadic cases (46 %, p = 0.155). We noted higher frequencies of HLA class II allele DQB1*05:01 in the cluster cohort (23 %) as compared to sporadic GBS patients (3 %, p = 0.019). Cluster of severe GBS was defined by higher frequencies of autoantibodies against glycosphingolipids. HLA class II allele DQB1*05:01 might contribute to clinical worsening in the cluster patients.

Factors associated with anti-tuberculosis medication adverse effects: a case-control study in Lima, Peru.

PubMed

Chung-Delgado, Kocfa; Revilla-Montag, Alejandro; Guillen-Bravo, Sonia; Velez-Segovia, Eduardo; Soria-Montoya, Andrea; Nuñez-Garbin, Alexandra; Silva-Caso, Wilmer; Bernabe-Ortiz, Antonio

2011-01-01

Long-term exposure to anti-tuberculosis medication increases risk of adverse drug reactions and toxicity. The objective of this investigation was to determine factors associated with anti-tuberculosis adverse drug reactions in Lima, Peru, with special emphasis on MDR-TB medication, HIV infection, diabetes, age and tobacco use. A case-control study was performed using information from Peruvian TB Programme. A case was defined as having reported an anti-TB adverse drug reaction during 2005-2010 with appropriate notification on clinical records. Controls were defined as not having reported a side effect, receiving anti-TB therapy during the same time that the case had appeared. Crude, and age- and sex-adjusted models were calculated using odds ratios (OR) and 95% confidence intervals (95%CI). A multivariable model was created to look for independent factors associated with side effect from anti-TB therapy. A total of 720 patients (144 cases and 576 controls) were analyzed. In our multivariable model, age, especially those over 40 years (OR = 3.93; 95%CI: 1.65-9.35), overweight/obesity (OR = 2.13; 95%CI: 1.17-3.89), anemia (OR = 2.10; IC95%: 1.13-3.92), MDR-TB medication (OR = 11.1; 95%CI: 6.29-19.6), and smoking (OR = 2.00; 95%CI: 1.03-3.87) were independently associated with adverse drug reactions. Old age, anemia, MDR-TB medication, overweight/obesity status, and smoking history are independent risk factors associated with anti-tuberculosis adverse drug reactions. Patients with these risk factors should be monitored during the anti-TB therapy. A comprehensive clinical history and additional medical exams, including hematocrit and HIV-ELISA, might be useful to identify these patients.

The tumour border on contrast-enhanced spectral mammography and its relation to histological characteristics of invasive breast cancer.

PubMed

Ambicka, Aleksandra; Luczynska, Elzbieta; Adamczyk, Agnieszka; Harazin-Lechowska, Agnieszka; Sas-Korczynska, Beata; Niemiec, Joanna

Contrast-enhanced spectral mammography (CESM) is one of the new diagnostic modalities implemented in clinical practice. In the case of these techniques, there are two major issues to be addressed: (1) their diagnostic usefulness, and (2) the relation between parameters assessed using these techniques and well-known diagnostic/prognostic/predictive markers (histological, clinical, and molecular). Therefore, we studied the relationship between the tumour margin assessed on CESM and (1) tumour borders defined on the basis of macroscopic and microscopic examination, (2) pT, (3) pN, and (4) tumour grade in a group of 82 breast cancer patients. Based on CESM, the tumour border was defined as sharp, indistinct or spiculated, whereas in the case of lesions showing weak or medium enhancement on CESM the borders were classified as unspecified. We found a statistically significant relationship between tumour margin on CESM and (1) macroscopic border (a spiculated margin on CESM was found only in carcinomas with an invasive border on histological examination; p = 0.004), (2) pT (p = 0.016), and (3) pN (nodal involvement was observed most frequently in carcinomas with a spiculated or indistinct margin on CESM; p = 0.045). Moreover, in cases with an undefined margin on CESM (cases showing weak or medium enhancement on CESM), both invasive and pushing borders were found on histological examination. The results of our preliminary study suggest that it is possible to assess macroscopic borders of examined lesions on the basis of CESM imaging. This might be useful in planning the extent of surgical excision. On the other hand, the assessment of the tumour margin on CESM might not be precise in cases showing weak enhancement.

Tinea atypica: report of nine cases.

PubMed

Zisova, Liliya Georgieva; Dobrev, Hristo Petrov; Tchernev, Georgi; Semkova, Kristina; Aliman, Anastasia Atanasova; Chorleva, Kristina Ivanova; Chapanova, Antonina Teneva; Vutova, Nina Ivanova; Wollina, Uwe

2013-12-01

Fungal infections of the skin are a common condition, usually easy to diagnose and treat. When the infection is clinically mimicking another cutaneous disorder or when the clinical presentation is modified by the use of inappropriate treatment, it is referred to as tinea atypica or tinea incognito.We report a series of nine cases of patients with tinea atypica, imitating and diagnosed initially as different skin diseases. Two patients were defined as pyoderma in the facial and pubic regions (caused respectively by Trichophyton mentagrophytes var. mentagrophytes and Microsporum canis) and one as herpes zoster ophthalmicus (caused by Trichophyton rubrum). Six additional patients were initially misdiagnosed: (1) Plaque-like formation of the skin misdiagnosed as an impetiginized eczema (with isolated agent Trichophyton verrucosum). (2) A rare form of skin infection of the hand caused by T. rubrum, imitating clinically cutaneous infection with tuberculum mulgentium. (3) Rosacea-like dermatitis with an isolated agent Fusarium. (4) A patient with the typical clinical symptoms of seborrheic dermatitis of the face (and with isolated T. rubrum as a causative agent). (5) Another patient presented with a widespread folliculitis by Trichophyton mentagrophytes. (6) In a patient with bullous pemphigoid and immunosuppression pemphigoid-like eruptions were caused by Malassezia pachydermatis and T. rubrum. The diagnosis in the presented cases was based on direct microscopic examination with KOH and a culture on Sabouraud agar.After the diagnosis of tinea, treatment with topical and systemic antifungal agents was administrated, followed by complete clinical remissions in all cases.The clinical manifestations of tinea atypica can mimic a large number of other dermatoses, which often leads to misdiagnosing, and as a consequence--to serious difficulties in the management of clinical symptoms and in offering appropriate therapy.

Human West Nile virus infection in Bosnia and Herzegovina.

PubMed

Ahmetagić, Sead; Petković, Jovan; Hukić, Mirsada; Smriko-Nuhanović, Arnela; Piljić, Dilista

2015-02-01

To describe the first two cases of West Nile virus (WNV) neuroinvasive infections in Bosnia and Herzegovina. At the Clinic for Infectious Diseases of the University Clinical Centre Tuzla, Bosnia and Herzegovina (BiH), specific screening for WNV infection was performed on patients with neuroinvasive diseases from 1 August to 31 October 2013. Serum samples were tested for the presence of WNV IgM and IgG antibodies using enzyme-linked immunosorbent assay (ELISA); positive serum samples were further analyzed by detection of WNV nucleic acid of two distinct lineages (lineage 1 and lineage 2) in sera by RT-PCR. Three (out of nine) patients met clinical criteria, and two of them had high serum titre of WNV specific IgM antibodies (3.5 and 5.2). Serum RT-PCR testing was negative. Conformation by neutralization testing was not performed. Both cases represented with encephalitis. None of these cases had recent travel history in WNW endemic areas, or history of blood transfusion and organ transplantation, so they represented autochthonous cases. Although there were no previous reports of flavivirus infections in BiH, described cases had high titre of WNV specific antibodies in serum, and negative flavivirus-vaccination history, they were defined as probable cases because recommended testing for case confirmation was not performed. The West Nile virus should be considered a possible causative pathogen in this area, probably in patients with mild influenza-like disease of unknown origin and those with neuroinvasive disease during late summer and early autumn.

Case study and case-based research in emergency nursing and care: Theoretical foundations and practical application in paramedic pre-hospital clinical judgment and decision-making of patients with mental illness.

PubMed

Shaban, Ramon Z; Considine, Julie; Fry, Margaret; Curtis, Kate

2017-02-01

Generating knowledge through quality research is fundamental to the advancement of professional practice in emergency nursing and care. There are multiple paradigms, designs and methods available to researchers to respond to challenges in clinical practice. Systematic reviews, randomised control trials and other forms of experimental research are deemed the gold standard of evidence, but there are comparatively few such trials in emergency care. In some instances it is not possible or appropriate to undertake experimental research. When exploring new or emerging problems where there is limited evidence available, non-experimental methods are required and appropriate. This paper provides the theoretical foundations and an exemplar of the use of case study and case-based research to explore a new and emerging problem in the context of emergency care. It examines pre-hospital clinical judgement and decision-making of mental illness by paramedics. Using an exemplar the paper explores the theoretical foundations and conceptual frameworks of case study, it explains how cases are defined and the role researcher in this form of inquiry, it details important principles and the procedures for data gathering and analysis, and it demonstrates techniques to enhance trustworthiness and credibility of the research. Moreover, it provides theoretically and practical insights into using case study in emergency care. Copyright © 2017 College of Emergency Nursing Australasia. Published by Elsevier Ltd. All rights reserved.

A geographic information system-based method for estimating cancer rates in non-census defined geographical areas.

PubMed

Freeman, Vincent L; Boylan, Emma E; Pugach, Oksana; Mclafferty, Sara L; Tossas-Milligan, Katherine Y; Watson, Karriem S; Winn, Robert A

2017-10-01

To address locally relevant cancer-related health issues, health departments frequently need data beyond that contained in standard census area-based statistics. We describe a geographic information system-based method for calculating age-standardized cancer incidence rates in non-census defined geographical areas using publically available data. Aggregated records of cancer cases diagnosed from 2009 through 2013 in each of Chicago's 77 census-defined community areas were obtained from the Illinois State Cancer Registry. Areal interpolation through dasymetric mapping of census blocks was used to redistribute populations and case counts from community areas to Chicago's 50 politically defined aldermanic wards, and ward-level age-standardized 5-year cumulative incidence rates were calculated. Potential errors in redistributing populations between geographies were limited to <1.5% of the total population, and agreement between our ward population estimates and those from a frequently cited reference set of estimates was high (Pearson correlation r = 0.99, mean difference = -4 persons). A map overlay of safety-net primary care clinic locations and ward-level incidence rates for advanced-staged cancers revealed potential pathways for prevention. Areal interpolation through dasymetric mapping can estimate cancer rates in non-census defined geographies. This can address gaps in local cancer-related health data, inform health resource advocacy, and guide community-centered cancer prevention and control.

The economic case for precision medicine.

PubMed

Gavan, Sean P; Thompson, Alexander J; Payne, Katherine

2018-01-01

Introduction : The advancement of precision medicine into routine clinical practice has been highlighted as an agenda for national and international health care policy. A principle barrier to this advancement is in meeting requirements of the payer or reimbursement agency for health care. This special report aims to explain the economic case for precision medicine, by accounting for the explicit objectives defined by decision-makers responsible for the allocation of limited health care resources. Areas covered : The framework of cost-effectiveness analysis, a method of economic evaluation, is used to describe how precision medicine can, in theory, exploit identifiable patient-level heterogeneity to improve population health outcomes and the relative cost-effectiveness of health care. Four case studies are used to illustrate potential challenges when demonstrating the economic case for a precision medicine in practice. Expert commentary : The economic case for a precision medicine should be considered at an early stage during its research and development phase. Clinical and economic evidence can be generated iteratively and should be in alignment with the objectives and requirements of decision-makers. Programmes of further research, to demonstrate the economic case of a precision medicine, can be prioritized by the extent that they reduce the uncertainty expressed by decision-makers.

The economic case for precision medicine

PubMed Central

Gavan, Sean P.; Thompson, Alexander J.; Payne, Katherine

2018-01-01

ABSTRACT Introduction: The advancement of precision medicine into routine clinical practice has been highlighted as an agenda for national and international health care policy. A principle barrier to this advancement is in meeting requirements of the payer or reimbursement agency for health care. This special report aims to explain the economic case for precision medicine, by accounting for the explicit objectives defined by decision-makers responsible for the allocation of limited health care resources. Areas covered: The framework of cost-effectiveness analysis, a method of economic evaluation, is used to describe how precision medicine can, in theory, exploit identifiable patient-level heterogeneity to improve population health outcomes and the relative cost-effectiveness of health care. Four case studies are used to illustrate potential challenges when demonstrating the economic case for a precision medicine in practice. Expert commentary: The economic case for a precision medicine should be considered at an early stage during its research and development phase. Clinical and economic evidence can be generated iteratively and should be in alignment with the objectives and requirements of decision-makers. Programmes of further research, to demonstrate the economic case of a precision medicine, can be prioritized by the extent that they reduce the uncertainty expressed by decision-makers. PMID:29682615

Bloodstream infections in pediatric oncology outpatients: a new healthcare systems challenge.

PubMed

Smith, Theresa L; Pullen, Gregg T; Crouse, Vonda; Rosenberg, Jon; Jarvis, William R

2002-05-01

To investigate a perceived increase in central venous catheter (CVC)-associated bloodstream infections (BSIs) among pediatric hematology-oncology outpatients. A case-control study. A pediatric hematology-oncology outpatient clinic at Fresno Children's Hospital. Pediatric hematology-oncology clinic outpatients with CVCs at Fresno Children's Hospital between November 1994 and October 1997. A case-patient was defined as any hematology-oncology outpatient with a CVC-associated BSI at Fresno Children's Hospital from November 1996 to October 1997 (study period) without a localizable infection. To identify case-patients, we reviewed Fresno Children's Hospital records for all hematology-oncology clinic patients, those with CVCs and those with CVCs and BSIs. Control-patients were randomly selected hematology-oncology outpatients with a CVC but no BSI during the study period. Case-patient and control-patient demographics, diagnoses, caretakers, catheter types, catheter care, and water exposure were compared. Twenty-five case-patients had 42 CVC-associated BSIs during the study period. No significant increase in CVC-associated BSI rates occurred among pediatric hematology-oncology patients. However, there was a statistically significant increase in nonendogenous, gram-negative (eg, Pseudomonas species) BSIs during summer months (May-October) compared with the rest of the year. Case-patients and control-patients differed only in catheter type; case-patients were more likely than control-patients to have a transcutaneous CVC. Summertime recreational water exposures were similar and high in the two groups. Hematology-oncology clinic patients with transcutaneous CVCs are at greater risk for CVC-associated BSI, particularly during the summer. Caretakers should be instructed on proper care of CVCs, particularly protection of CVCs during bathing and recreational summer water activities, to reduce the risk of nonendogenous, gram-negative BSIs.

[Prognosis of acute pancreatitis by PANC 3 score].

PubMed

Fukuda, James Ken; Franzon, Orli; Resende-Filho, Fernando de Oliveira; Kruel, Nicolau Fernandes; Ferri, Thiago Alessandro

2013-06-01

Acute pancreatitis is a disease of great importance in clinical practice, defined as an inflammatory process of the pancreas that may involve local tissues or affect other organs in a systemic manner, requiring, in such cases, an intensive care. To analyze the simplified stratification system of the PANC 3 score, correlating it with the Ranson score, for the prognostic definition of cases of acute pancreatitis. Was conducted a prospective, observational study in which were evaluated 65 patients who were diagnosed with acute pancreatitis. PANC 3 showed sensitivity, 31.25%; specificity,100%; positive predictive value, 100%; negative predictive value, 81.66% and accuracy, 83.07%. The PANC 3 criteria are applicable to define the severity and the prognosis of acute pancreatitis, and are not a substitute method, but rather a method to be associated with the Ranson criteria, mainly due to its high accuracy, positive predictive value and specificity.

Implementing clinical protocols in oncology: quality gaps and the learning curve phenomenon.

PubMed

Kedikoglou, Simos; Syrigos, Konstantinos; Skalkidis, Yannis; Ploiarchopoulou, Fani; Dessypris, Nick; Petridou, Eleni

2005-08-01

The quality improvement effort in clinical practice has focused mostly on 'performance quality', i.e. on the development of comprehensive, evidence-based guidelines. This study aimed to assess the 'conformance quality', i.e. the extent to which guidelines once developed are correctly and consistently applied. It also aimed to assess the existence of quality gaps in the treatment of certain patient segments as defined by age or gender and to investigate methods to improve overall conformance quality. A retrospective audit of clinical practice in a well-defined oncology setting was undertaken and the results compared to those obtained from prospectively applying an internally developed clinical protocol in the same setting and using specific tools to increase conformance quality. All indicators showed improvement after the implementation of the protocol that in many cases reached statistical significance, while in the entire cohort advanced age was associated (although not significantly) with sub-optimal delivery of care. A 'learning curve' phenomenon in the implementation of quality initiatives was detected, with all indicators improving substantially in the second part of the prospective study. Clinicians should pay separate attention to the implementation of chosen protocols and employ specific tools to increase conformance quality in patient care.

Patients With Failed Prior Two-Stage Exchange Have Poor Outcomes After Further Surgical Intervention.

PubMed

Kheir, Michael M; Tan, Timothy L; Gomez, Miguel M; Chen, Antonia F; Parvizi, Javad

2017-04-01

Failure of 2-stage exchange arthroplasty for the management of periprosthetic joint infection (PJI) poses a major clinical challenge. There is a paucity of information regarding the outcomes of further surgical intervention in these patients. Thus, we aim to report the clinical outcomes of subsequent surgery for a failed prior 2-stage exchange arthroplasty. Our institutional database was used to identify 60 patients (42 knees and 18 hips), with a failed prior 2-stage exchange, who underwent further surgical intervention between 1998 and 2012, and had a minimum 2-year follow-up. A retrospective review was performed to extract relevant clinical information, including mortality, microbiology, and subsequent surgeries. Musculoskeletal Infection Society criteria were used to define PJI, and treatment success was defined using Delphi criteria. Irrigation and debridement (I&D) was performed after a failed 2-stage exchange in 61.7% of patients; 56.8% subsequently failed. Forty patients underwent an intended second 2-stage exchange; 6 cases required a spacer exchange. Reimplantation occurred only in 65% of cases, and 61.6% had infection controlled. The 14 cases that were not reimplanted resulted in 6 retained spacers, 5 amputations, 2 PJI-related mortalities, and 1 arthrodesis. Further surgical intervention after a failed prior 2-stage exchange arthroplasty has poor outcomes. Although I&D has a high failure rate, many patients who are deemed candidates for a second 2-stage exchange either do not undergo reimplantation or fail after reimplantation. The management of PJI clearly remains imperfect, and there is a dire need for further innovations that may improve the care of these patients. Copyright © 2016 Elsevier Inc. All rights reserved.

SU-F-T-635: Lung SBRT: Dosimetric and Treatment Time Comparison of Volumetric-Modulated Arc Therapy and Three-Dimensional Conformal Radiotherapy in Clinically Treated Cases

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

Han, J; Xu, Z; Baker, J

Purpose: To compare three-dimensional conformal radiotherapy (3D CRT) and volumetric-modulated arc therapy (VMAT) in lung stereotactic body radiation therapy (SBRT) Methods: A retrospective study of clinically treated lung SBRT cases treated between 2010 and 2015 at our hospital was performed. All treatment modalities were included in this evaluation (VMAT, 3D CRT, static IMRT, and dynamic conformal arc therapy). However, the majority of treatment modalities were either VMAT or 3D CRT. Treatment times of patients and dosimetric plan quality metrics were compared. Treatment times were calculated based on the time the therapist opened and closed the patient’s treatment plan. This treatmentmore » time closely approximates the utilization time of the treatment room. The dosimetric plan quality metrics evaluated include ICRU conformity index, the volume of 105% prescribed dose outside PTV, the ratio of volume of 50% prescribed dose to the volume of PTV, the percentage of maximum dose at 2 cm away from PTV to the prescribed dose, and the V20 (percentage of lung volume receiving 20 Gy or more). Results: Treatment time comparisons show that on average VMAT has shorter treatment times than 3D CRT. Dose conformity, defined by the ICRU conformity index, and high dose spillage, defined by the volume of 105% dose outside the PTV, is reduced when using VMAT compared to 3D CRT. V20 and intermediate dose spillage/fall-off metrics of VMAT and 3D are not significantly different. Conclusion: Clinically treated lung SBRT cases indicate VMAT is superior to 3D with regard to shorter treatment times, plan dose conformity, and plan high dose spillage.« less

WHO Dengue Case Classification 2009 and its usefulness in practice: an expert consensus in the Americas

PubMed Central

Horstick, Olaf; Martinez, Eric; Guzman, Maria Guadalupe; Martin, Jose Luis San; Ranzinger, Silvia Runge

2015-01-01

Introduction: In 2009, the new World Health Organization (WHO) dengue case classification – dengue/severe dengue (D/SD) – was introduced, replacing the 1997 WHO dengue case classification: dengue fever/dengue haemorrhagic fever/dengue shock syndrome (DF/DHF/DSS). Methods: A 2-day expert consensus meeting in La Habana/Cuba aimed to (1) share the experiences from Pan American Health Organization (PAHO) member states when applying D/SD, (2) present national and local data using D/SD, and (3) agree with the presented evidence on a list of recommendations for or against the use of D/SD for PAHO, and also globally. Results: Eight key questions were discussed, concluding: (1) D/SD is useful describing disease progression because it considers the dynamic nature of the disease, (2) D/SD helps defining dengue cases correctly for clinical studies, because it defines more precisely disease severity and allows evaluating dynamically the progression of cases, (3) D/SD describes correctly all clinical forms of severe dengue. Further standards need to be developed regionally, especially related to severe organ involvement, (4) D/SD allows for pathophysiological research identifying – in a sequential manner – the clinical manifestations of dengue related to pathophysiological events, (5) the warning signs help identifying early cases at risk of shock (children and adults), pathophysiology of the warning signs deserves further studies, (6) D/SD helps treating individual dengue cases and also the reorganization of health-care services for outbreak management, (7) D/SD helps diagnosing dengue, in presumptive diagnosis and follow-up of the disease, because of its high sensitivity and high negative predictive value (NPV), and (8) there is currently no update of the International Disease Classification10 (ICD10) to include the new classification of dengue (D/SD); therefore, there are not enough experiences of epidemiological reporting. Once D/SD has been implemented in epidemiological surveillance, D/SD allows to (1) identify severity of dengue cases in real time, for any decision-making on actions, (2) measure and compare morbidity and mortality in countries, and also globally, and (3) trigger contingency plans early, not only based on the number of reported cases but also on the reported severity of cases. Conclusion: The expert panel recommends to (1) update ICD10, (2) include D/SD in country epidemiological reports, and (3) implement studies improving sensitivity/specificity of the dengue case definition. PMID:25630344

Kratom abuse in Ramathibodi Poison Center, Thailand: a five-year experience.

PubMed

Trakulsrichai, Satariya; Tongpo, Achara; Sriapha, Charuwan; Wongvisawakorn, Sunun; Rittilert, Panee; Kaojarern, Sming; Wananukul, Winai

2013-01-01

Kratom (Mitragyna speciosa Korth), a native tree in Southeast Asia, is misused as an abuse drug and becomes legally widespread to several countries. Currently, it is available through the online market or by some shops. The clinical manifestations of Kratom's effects are not well-defined and the clinical studies are limited. This study was designed to identify the characteristics of Kratom poisoning and withdrawal cases from Kratom exposure cases in Ramathibodi Poison Center (RPC), Thailand, during a five-year period. We used a retrospective review of Kratom exposure cases from the RPC toxic surveillance system. A total of 52 Kratom exposure cases were identified. The trend of case consultations has been increasing. There were Kratom poisoning cases (76.9%) and withdrawal cases (23.1%). Common presenting symptoms in the poisoning group were palpitation (22.5%), followed by seizure (17.5%). For the withdrawal group, the common presenting symptoms were myalgia (33.3%), insomnia (16.67%), fatigue (16.67%), and chest discomfort (16.67%). There was a baby with withdrawal symptoms who was delivered from a chronic Kratom-abusing mother, suggesting possible exposure via the transplacental route. There were no deaths in either group. Kratom abuse can cause either poisoning or withdrawal. Most cases in both groups had good prognostic outcome.

Defining biotypes for depression and anxiety based on large-scale circuit dysfunction: A theoretical review of the evidence and future directions for clinical translation

PubMed Central

Williams, Leanne M

2016-01-01

Complex emotional, cognitive and self-reflective functions rely on the activation and connectivity of large-scale neural circuits. These circuits offer a relevant scale of focus for conceptualizing a taxonomy for depression and anxiety based on specific profiles (or biotypes) of neural circuit dysfunction. Here, the theoretical review first outlined the current consensus as to what constitutes the organization of large-scale circuits in the human brain identified using parcellation and meta-analysis. The focus is on neural circuits implicated in resting reflection (“default mode”), detection of “salience”, affective processing (“threat” and “reward”), “attention” and “cognitive control”. Next, the current evidence regarding which type of dysfunctions in these circuits characterize depression and anxiety disorders was reviewed, with an emphasis on published meta-analyses and reviews of circuit dysfunctions that have been identified in at least two well-powered case:control studies. Grounded in the review of these topics, a conceptual framework is proposed for considering neural circuit-defined “biotypes”. In this framework, biotypes are defined by profiles of extent of dysfunction on each large-scale circuit. The clinical implications of a biotype approach for guiding classification and treatment of depression and anxiety is considered. Future research directions will develop the validity and clinical utility of a neural circuit biotype model that spans diagnostic categories and helps to translate neuroscience into clinical practice in the real world. PMID:27653321

Atrophy, hypometabolism and clinical trajectories in patients with amyloid-negative Alzheimer's disease.

PubMed

Chételat, Gaël; Ossenkoppele, Rik; Villemagne, Victor L; Perrotin, Audrey; Landeau, Brigitte; Mézenge, Florence; Jagust, William J; Dore, Vincent; Miller, Bruce L; Egret, Stéphanie; Seeley, William W; van der Flier, Wiesje M; La Joie, Renaud; Ames, David; van Berckel, Bart N M; Scheltens, Philip; Barkhof, Frederik; Rowe, Christopher C; Masters, Colin L; de La Sayette, Vincent; Bouwman, Femke; Rabinovici, Gil D

2016-09-01

See O'Sullivan and Vann (doi:10.1093/aww166) for a scientific commentary on this article.About 15% of patients clinically diagnosed with Alzheimer's disease do not show high tracer retention on amyloid positon emission tomography imaging. The present study investigates clinical and demographic features, patterns of brain atrophy and hypometabolism and longitudinal clinical trajectories of these patients. Forty amyloid-negative patients carrying a pre-scan diagnosis of Alzheimer's disease dementia from four centres were included (11/29 females/males; mean age = 67 ± 9). Detailed clinical histories, including the clinical diagnoses before and after the amyloid scan and at follow-up, were collected. Patients were classified according to their pre-scan clinical phenotype as amnestic (memory predominant), non-amnestic (predominant language, visuospatial or frontal symptoms), or non-specific (diffuse cognitive deficits). Demographic, clinical, neuropsychological, magnetic resonance imaging and (18)F-fluorodeoxyglucose positon emission tomography data were compared to 27 amyloid-positive typical Alzheimer's disease cases (14/13 females/males; mean age = 71 ± 10) and 29 amyloid-negative controls (15/14 females/males; mean age = 69 ± 12) matched for age, gender and education. There were 21 amnestic, 12 non-amnestic, and seven non-specific amyloid-negative Alzheimer's disease cases. Amyloid-negative subgroups did not differ in age, gender or education. After the amyloid scan, clinicians altered the diagnosis in 68% of amyloid-negative patients including 48% of amnestic versus 94% of non-amnestic and non-specific cases. Amnestic amyloid-negative cases were most often reclassified as frontotemporal dementia, non-amnestic as frontotemporal dementia or corticobasal degeneration, and non-specific as dementia with Lewy bodies or unknown diagnosis. The longer-term clinical follow-up was consistent with the post-scan diagnosis in most cases (90%), including in amnestic amyloid-negative cases whose post-positon emission tomography diagnosis remained Alzheimer's disease. While the non-amnestic and non-specific amyloid-negative cases usually showed patterns of atrophy and hypometabolism suggestive of another degenerative disorder, the amnestic amyloid-negative cases had subtle atrophy and hypometabolism, restricted to the retrosplenial/posterior cingulate cortex. Patients with a negative amyloid positon emission tomography scan following an initial clinical diagnosis of Alzheimer's disease have heterogeneous clinical presentations and neuroimaging profiles; a majority showed a clinical progression that was consistent with a neurodegenerative condition. In contrast, in the subgroup of amnestic amyloid-negative cases, the clinical presentation and follow-up usually remained consistent with Alzheimer's disease. An alternative diagnosis was not made in about half of the amnestic amyloid-negative cases, highlighting the need for a clinical framework and terminology to define these patients, who may have underlying limbic-predominant, non-amyloid-related pathologies. © The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

The positive effect of targeted marketing on an existing uterine fibroid embolization practice.

PubMed

Chrisman, Howard B; Basu, Pat Auveek; Omary, Reed A

2006-03-01

Although uterine fibroid embolization is an effective treatment option for symptomatic women, it is unclear what methods can be used to expand referrals in an already established practice. The authors tested the hypothesis that an advertising strategy focused on a defined target market can expand an existing uterine fibroid embolization practice. A market-driven planning sequence was employed. This included a determination of goals, an examination of current competition, determination of target market based on local environment and previous consumer use, pretest of product sample, and implementation of advertisement. Based on the analysis the authors determined that the target audience was professional black women aged 35 to 45. A specific weekly magazine was selected due to readership demographics. An advertisement was run for 8 consecutive weeks. The authors prospectively tracked patient inquiries, clinic visits, cases performed, and revenues generated for 3 months following the initial advertisement. All patients were seen in a fully staffed, preexisting fibroid clinic located within an urban, university-based academic practice performing 250 uterine fibroid embolizations annually. Ninety calls were received directly related to the advertisement. There were 35 clinic visits, which resulted in 17 uterine fibroid embolizations and 52 total MR imaging procedures. Eighteen patients were not considered candidates based on established protocols. The 17 extra cases performed over 3 months represented a 27% increase in case volume. Total professional cash collections for these cases (including MR imaging) were 58,317 US dollars. The cost of advertising was 8,000 US dollars. As a result of existing infrastructure, no additional costs were necessary. This resulted in a net revenue gain 50,317 US dollars and a nonannualized rate of return of approximately 625%. As Interventional Radiologists look to develop and expand existing practices, traditional marketing tools such as those utilized in this study can be used to facilitate practice growth for specific clinical programs, such as uterine artery embolization. Defining a target market can significantly expand an existing uterine fibroid embolization practice. The optimal choice of targeted media awaits verification from future studies.

Metastatic Crohn disease clinically reminiscent of erythema nodosum on the right leg.

PubMed

Park, Hyun C; Kim, Hyun W; Park, Chan G; Ko, Joo Y

2016-09-01

Cutaneous manifestations are well-recognized complications of Crohn disease (CD) that can be divided into disease-specific and reactive conditions. One of the most common reactive conditions is erythema nodosum (EN), which presents as subcutaneous tender nodules most often on the legs. On the other hand, metastatic Crohn disease (MCD) is a rare cutaneous manifestation of CD defined as the presence of noncaseating granulomas that are not contiguous with the gastrointestinal (GI) tract. The clinical presentation of MCD is variable; however, lesions often are located on the legs and genital region. We report the case of a 21-year-old woman with a 6-year history of CD who presented with MCD clinically simulating EN.

Partial epilepsy and 47,XXX karyotype: report of four cases.

PubMed

Roubertie, Agathe; Humbertclaude, Véronique; Leydet, Julie; Lefort, Geneviève; Echenne, Bernard

2006-07-01

Epilepsy is a common finding in chromosomal imbalances, but only a few chromosome abnormalities have a characteristic electro-clinical pattern. Trisomy X is one of the most common sex chromosome abnormalities in females, and is associated with considerable phenotypic variability. This report describes four 47,XXX females with mental deficiency and epilepsy. Although a specific electro-clinical pattern could not be defined, the epileptic phenotypes of these patients share many features; we suggest that the association 47,XXX/epilepsy/mental retardation may not be coincidental. This report also enlarges the clinical spectrum of the 47,XXX phenotype. Moreover, these observations highlight the critical role of chromosome X in epilepsy and mental retardation.

Perception: a concept analysis.

PubMed

McDonald, Susan M

2012-02-01

Concept analysis methodology by Walker and Avant (2005) was used to define, describe, and delimit the concept of perception. Nursing literature in the Medline database was searched for definitions of "perception." Definitions, uses, and defining attributes of perception were identified; model and contrary cases were developed; and antecedents, consequences, and empirical referents were determined. An operational definition for the concept was developed. Nurses need to be cognizant of how perceptual differences impact the delivery of nursing care. In research, a mixed methodology approach may yield a richer description of the phenomenon and provide useful information for clinical practice. © 2011, The Author. International Journal of Nursing Knowledge © 2011, NANDA International.

Oral bisphosphonate-related osteonecrosis of the jaws: Clinical characteristics of a series of 20 cases in Spain

PubMed Central

López-Cedrún, José L.; Fernández-Sanromán, Jacinto; García-García, Abel; Fernández-Feijoo, Javier; Diz-Dios, Pedro

2012-01-01

Objective: The objective of this study was to define the clinical characteristics of osteonecrosis of the jaws (ONJ) induced by oral bisphosphonates in a series of patients from a circumscribed area in northwest Spain. Study Design:A retrospective multicentre study was undertaken in 3 hospitals in an area with a radius less than 100 km in the Autonomous Community of Galicia (Spain). The medical records were reviewed and an oral examination was performed of patients diagnosed with oral bisphosphonate-related ONJ in the previous 3 years. Results: We detected 20 cases of ONJ (24 lesions) related to oral bisphosphonates (alendronate [16 patients] and ibandronate [4 patients]), which were mainly administered as treatment for osteoporosis (17 patients). The mean interval between initiation of treatment and confirmation of a diagnosis of ONJ was 66±43 months (range, 6-132 months); in 7 patients (35%) the interval was less than 36 months. The past history revealed hypertension in 13 cases (65%) and diabetes in 4 (20%); 7 patients (35%) were on corticosteroid treatment. Oral surgery had been previously performed in 13 patients (65%) and the remaining 7 patients (35%) had removable dental prostheses. The lesions most frequently affected the posterior mandible (62.5%). The majority of the lesions (75%) were classified as stage 2, although lesions were identified in all established clinical stages (including 2 stage 0 lesions). Conclusion: In conclusion, in the present series, ONJ induced by oral bisphosphonates typically develops in women around 70 years of age, taking alendronate, that underwent oral surgery. Most lesions are located in the posterior mandible and are classified as stage 2 at diagnosis. Some patients presented no known risk factors, suggesting that there may be risk factors still to be identified. There are well-defined patterns of clinical presentation that can facilitate early diagnosis of ONJ. Key words:Oral bisphosphonates, osteonecrosis of the jaws, alendronate. PMID:22549688

Racial Differences in PAM50 Subtypes in the Carolina Breast Cancer Study.

PubMed

Troester, Melissa A; Sun, Xuezheng; Allott, Emma H; Geradts, Joseph; Cohen, Stephanie M; Tse, Chiu-Kit; Kirk, Erin L; Thorne, Leigh B; Mathews, Michelle; Li, Yan; Hu, Zhiyuan; Robinson, Whitney R; Hoadley, Katherine A; Olopade, Olufunmilayo I; Reeder-Hayes, Katherine E; Earp, H Shelton; Olshan, Andrew F; Carey, Lisa A; Perou, Charles M

2018-02-01

African American breast cancer patients have lower frequency of hormone receptor-positive (HR+)/human epidermal growth factor receptor 2 (HER2)-negative disease and higher subtype-specific mortality. Racial differences in molecular subtype within clinically defined subgroups are not well understood. Using data and biospecimens from the population-based Carolina Breast Cancer Study (CBCS) Phase 3 (2008-2013), we classified 980 invasive breast cancers using RNA expression-based PAM50 subtype and recurrence (ROR) score that reflects proliferation and tumor size. Molecular subtypes (Luminal A, Luminal B, HER2-enriched, and Basal-like) and ROR scores (high vs low/medium) were compared by race (blacks vs whites) and age (≤50 years vs > 50 years) using chi-square tests and analysis of variance tests. Black women of all ages had a statistically significantly lower frequency of Luminal A breast cancer (25.4% and 33.6% in blacks vs 42.8% and 52.1% in whites; younger and older, respectively). All other subtype frequencies were higher in black women (case-only odds ratio [OR] = 3.11, 95% confidence interval [CI] = 2.22 to 4.37, for Basal-like; OR = 1.45, 95% CI = 1.02 to 2.06, for Luminal B; OR = 2.04, 95% CI = 1.33 to 3.13, for HER2-enriched). Among clinically HR+/HER2- cases, Luminal A subtype was less common and ROR scores were statistically significantly higher among black women. Multigene assays highlight racial disparities in tumor subtype distribution that persist even in clinically defined subgroups. Differences in tumor biology (eg, HER2-enriched status) may be targetable to reduce disparities among clinically ER+/HER2- cases. © The Author 2017. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

Experience from a multicentre stroke register: a preliminary report

PubMed Central

Hatano, S.

1976-01-01

In collaboration with 15 centres in 10 countries of Africa, Asia, and Europe, WHO started a pilot study of a community-based stroke register, with standardized methods. Preliminary data were obtained on 6395 new cases of stroke in defined study communities, from May 1971 to September 1974. Information on incidence rates, clinical profiles, diagnosis, management, and course and prognosis for these patients is given. PMID:1088404

Diagnosis of intrachromosomal amplification of chromosome 21 (iAMP21) by molecular cytogenetics in pediatric acute lymphoblastic leukemia

PubMed Central

Duployez, Nicolas; Boudry-Labis, Elise; Decool, Gauthier; Grzych, Guillaume; Grardel, Nathalie; Abou Chahla, Wadih; Preudhomme, Claude; Roche-Lestienne, Catherine

2015-01-01

Key Clinical Message Intrachromosomal amplification of chromosome 21 (iAMP21) defines a distinct cytogenetic subgroup of B-cell precursor acute lymphoblastic leukemia (BCP-ALL) with poor prognosis that should be investigated in routine practice. Single-nucleotide polymorphism (SNP)-array provides a useful method to detect such cases showing a highly characteristic profile. PMID:26509013

A State of Double Jeopardy: Impact of Prenatal Alcohol Exposure and Adverse Environments on the Social Communicative Abilities of School-Age Children with Fetal Alcohol Spectrum Disorder

ERIC Educational Resources Information Center

Coggins, Truman E.; Timler, Geralyn R.; Olswang, Lesley B.

2007-01-01

Purpose: This article is a retrospective examination of environmental risk, language performance, and narrative discourse data from a clinical database of school-age children with fetal alcohol spectrum disorder (FASD). Method: A case-defined diagnostic approach for measuring and reporting the full spectrum of disabilities in children with…

Use of daptomycin in the treatment of vancomycin-resistant enterococcal urinary tract infections: a short case series.

PubMed

Ramaswamy, Divya Pradeep; Amodio-Groton, Maria; Scholand, Stephen J

2013-07-16

Vancomycin-resistant enterococci are a leading cause of hospital-acquired urinary tract infection and a growing concern for the clinician. The aim of this study was to evaluate the effectiveness of daptomycin in the treatment of patients with vancomycin-resistant enterococcal urinary tract infection treated in our 200-bed community-based institution. Patients with confirmed symptomatic vancomycin-resistant enterococcal urinary tract infection identified by infectious disease consultation between January 1, 2007, and December 8, 2009, vancomycin-resistant enterococci-positive urine culture, and urinary symptoms and/or pyuria on urinalysis, and treated with daptomycin, were included in this case series. Daptomycin was generally administered at a planned dosage regimen of ≥ 5 mg/kg every 24 hours in patients with normal to moderately impaired kidney function or every 48 hours in patients with severe kidney disease. Microbiologic cure was defined as eradication of vancomycin-resistant enterococci in urine cultures taken after the completion of daptomycin treatment. Clinical cure was defined by symptom resolution, as assessed by the infectious disease clinician caring for the patient. Included in this case series are 10 patients who received daptomycin for confirmed vancomycin-resistant enterococcal urinary tract infection. Patients had a history of extensive hospital stays. Chart review revealed that all levels of kidney function (3, 2, 3, and 2 patients with kidney disease classified as normal, mild, moderate, and severe/kidney failure, respectively) were represented in the sample and that patients with (n = 5) or without (n = 5) previous urinary tract infection and with (n = 3) or without (n = 7) Foley catheters were included. Treatment with daptomycin achieved clinical cure and vancomycin-resistant enterococcal eradication in all cases in this series. Treatment with daptomycin was well tolerated and effective in all patients in this series, regardless of renal function, history of urinary tract infection, or Foley catheter use. This study adds to emerging clinical evidence that daptomycin is a valuable treatment for vancomycin-resistant enterococcal urinary tract infection.

GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes

PubMed Central

Nakayama, Akiyoshi; Nakaoka, Hirofumi; Yamamoto, Ken; Sakiyama, Masayuki; Shaukat, Amara; Toyoda, Yu; Okada, Yukinori; Kamatani, Yoichiro; Nakamura, Takahiro; Takada, Tappei; Inoue, Katsuhisa; Yasujima, Tomoya; Yuasa, Hiroaki; Shirahama, Yuko; Nakashima, Hiroshi; Shimizu, Seiko; Higashino, Toshihide; Kawamura, Yusuke; Ogata, Hiraku; Kawaguchi, Makoto; Ohkawa, Yasuyuki; Danjoh, Inaho; Tokumasu, Atsumi; Ooyama, Keiko; Ito, Toshimitsu; Kondo, Takaaki; Wakai, Kenji; Stiburkova, Blanka; Pavelka, Karel; Stamp, Lisa K; Dalbeth, Nicola; Sakurai, Yutaka; Suzuki, Hiroshi; Hosoyamada, Makoto; Fujimori, Shin; Yokoo, Takashi; Hosoya, Tatsuo; Inoue, Ituro; Takahashi, Atsushi; Kubo, Michiaki; Ooyama, Hiroshi; Shimizu, Toru; Ichida, Kimiyoshi; Shinomiya, Nariyoshi; Merriman, Tony R; Matsuo, Hirotaka

2017-01-01

Objective A genome-wide association study (GWAS) of gout and its subtypes was performed to identify novel gout loci, including those that are subtype-specific. Methods Putative causal association signals from a GWAS of 945 clinically defined gout cases and 1213 controls from Japanese males were replicated with 1396 cases and 1268 controls using a custom chip of 1961 single nucleotide polymorphisms (SNPs). We also first conducted GWASs of gout subtypes. Replication with Caucasian and New Zealand Polynesian samples was done to further validate the loci identified in this study. Results In addition to the five loci we reported previously, further susceptibility loci were identified at a genome-wide significance level (p<5.0×10−8): urate transporter genes (SLC22A12 and SLC17A1) and HIST1H2BF-HIST1H4E for all gout cases, and NIPAL1 and FAM35A for the renal underexcretion gout subtype. While NIPAL1 encodes a magnesium transporter, functional analysis did not detect urate transport via NIPAL1, suggesting an indirect association with urate handling. Localisation analysis in the human kidney revealed expression of NIPAL1 and FAM35A mainly in the distal tubules, which suggests the involvement of the distal nephron in urate handling in humans. Clinically ascertained male patients with gout and controls of Caucasian and Polynesian ancestries were also genotyped, and FAM35A was associated with gout in all cases. A meta-analysis of the three populations revealed FAM35A to be associated with gout at a genome-wide level of significance (pmeta=3.58×10−8). Conclusions Our findings including novel gout risk loci provide further understanding of the molecular pathogenesis of gout and lead to a novel concept for the therapeutic target of gout/hyperuricaemia. PMID:27899376

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.

Planning the Breast Boost: Comparison of Three Techniques and Evolution of Tumor Bed During Treatment

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

Hepel, Jaroslaw T.; Department of Radiation Oncology, Brown University, Rhode Island Hospital, Providence, RI; Evans, Suzanne B.

2009-06-01

Purpose: To evaluate the accuracy of two clinical techniques for electron boost planning compared with computed tomography (CT)-based planning. Additionally, we evaluated the tumor bed characteristics at whole breast planning and boost planning. Methods and Materials: A total of 30 women underwent tumor bed boost planning within 2 weeks of completing whole breast radiotherapy using three planning techniques: scar-based planning, palpation/clinical-based planning, and CT-based planning. The plans were analyzed for dosimetric coverage of the CT-delineated tumor bed. The cavity visualization score was used to define the CT-delineated tumor bed as well or poorly defined. Results: Scar-based planning resulted in inferiormore » tumor bed coverage compared with CT-based planning, with the minimal dose received by 90% of the target volume >90% in 53% and a geographic miss in 53%. The results of palpation/clinical-based planning were significantly better: 87% and 10% for the minimal dose received by 90% of the target volume >90% and geographic miss, respectively. Of the 30 tumor beds, 16 were poorly defined by the cavity visualization score. Of these 16, 8 were well demarcated by the surgical clips. The evaluation of the 22 well-defined tumor beds revealed similar results. A comparison of the tumor bed volume from the initial planning CT scan to the boost planning CT scan revealed a decrease in size in 77% of cases. The mean decrease in volume was 52%. Conclusion: The results of our study have shown that CT-based planning allows for optimal tumor bed coverage compared with clinical and scar-based approaches. However, in the setting of a poorly visualized cavity on CT without surgical clips, palpation/clinical-based planning can help delineate the appropriate target volumes and is superior to scar-based planning. CT simulation at boost planning could allow for a reduction in the boost volumes.« less

Unclassified cases of behavioral variant of major frontotemporal neurocognitive disorder in the Diagnostic and Statistical Manual of Mental Disorders, 5th edition.

PubMed

Fukuda, Koji; Hattori, Hideyuki

2014-04-01

In the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5), the behavioral variant of major frontotemporal neurocognitive disorder (bvFT-NCD) is subclassified into "probable bvFT-NCD" or "possible bvFT-NCD." When genetic evidence is unavailable, cases without clinical neuroimaging are subclassified into "possible bvFT-NCD," whereas cases whose clinical images show the typical characteristics are subclassified into "probable bvFT-NCD." Thus, the cases that meet the diagnostic criteria of bvFT-NCD based on their symptoms, but lack the neuroimaging characteristics, fall between the two categories of probable and possible bvFT-NCD. These cases herein are defined as "unclassified bvFT-NCD," and the present study aims at considering an appropriate diagnostic approach to such cases, that is, whether unclassified bvFT-NCD should be included in bvFT-NCD as a third subcategory, or whether it should be classified into diseases other than bvFT-NCD. All patients who presented at the Department of Psychiatry of the National Center for Geriatrics and Gerontology with suspicion of the behavioral variant of frontotemporal dementia between 1 May 2011 and 30 April 2013 were retrospectively rediagnosed based on the DSM-5 criteria. A total of 16 cases met the criteria of bvFT-NCD, and among them, eight cases corresponded to unclassified bvFT-NCD. From a cross-sectional and clinical perspective, all eight cases of unclassified bvFT-NCD fulfilled the symptomatic criteria for bvFT-NCD, although the possibilities of Alzheimer's disease and other mental disorders could not be ruled out completely. To establish clinical diagnostic criteria for unclassified bvFT-NCD, accumulation of cases and evidence will be required along with longitudinal observation using various diagnostic technologies and post-mortem examination. © 2014 Japan Geriatrics Society.

Defining Polio: Closing the Gap in Global Surveillance.

PubMed

Tajaldin, Bachir; Almilaji, Khaled; Langton, Paul; Sparrow, Annie

2015-01-01

By late 2012 the Global Polio Eradication Initiative (GPEI) had nearly eradicated this ancient infectious disease. Successful surveillance programs for acute flaccid paralysis however rely on broad governmental support for implementation. With the onset of conflict, public health breakdown has contributed to the resurgence of polio in a number of regions. The current laboratory based case definition may be a contributory factor in these regions. We sought to compare case definition rates using strict laboratory based criteria to rates obtained using the clinical criteria in modern day Syria. We also sought to examine this distribution of cases by sub-region. We examined the World Health Organization (WHO) reported figures for Syria from 2013-2014 using laboratory based criteria. We compared these with cases obtained when clinical criteria were applied. In addition we sought data from the opposition controlled Assistance Coordination Unit which operates in non-Government controlled areas where WHO data maybe incomplete. Cases were carefully examined for potential overlap to avoid double reporting. Whilst the WHO data clearly confirmed the polio outbreak in Syria, it did so with considerable delay and with under reporting of cases, particularly from non-government controlled areas. In addition, laboratory based case definition led to a substantial underestimate of polio (36 cases) compared with those found with the clinically compatible definition (an additional 46 cases). Rates of adequate diagnostic specimens from suspected cases are well below target, no doubt reflecting the effect of conflict in these areas. We have identified a gap in the surveillance of polio, a global threat. The current laboratory based definition, in the setting of conflict and insecurity, leads to under diagnosis of polio with potential delays and inadequacies in coordinating effective responses to contain outbreaks and eradicate polio. Breakdown in public health measures as a contributing factor is likely to result in a resurgence of previously controlled infectious diseases. The clinical definition should be reinstituted to supplement the lab-based definition. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

Neuropsychological Profiles Differentiate Alzheimer Disease from Subcortical Ischemic Vascular Dementia in an Autopsy-Defined Cohort.

PubMed

Ramirez-Gomez, Liliana; Zheng, Ling; Reed, Bruce; Kramer, Joel; Mungas, Dan; Zarow, Chris; Vinters, Harry; Ringman, John M; Chui, Helena

2017-01-01

The aim of this study was to assess the ability of neuropsychological tests to differentiate autopsy-defined Alzheimer disease (AD) from subcortical ischemic vascular dementia (SIVD). From a sample of 175 cases followed longitudinally that underwent autopsy, we selected 23 normal controls (NC), 20 SIVD, 69 AD, and 10 mixed cases of dementia. Baseline neuropsychological tests, including Memory Assessment Scale word list learning test, control oral word association test, and animal fluency, were compared between the three autopsy-defined groups. The NC, SIVD, and AD groups did not differ by age or education. The SIVD and AD groups did not differ by the Global Clinical Dementia Rating Scale. Subjects with AD performed worse on delayed recall (p < 0.01). A receiver operating characteristics analysis comparing the SIVD and AD groups including age, education, difference between categorical (animals) versus phonemic fluency (letter F), and the first recall from the word learning test distinguished the two groups with a sensitivity of 85%, specificity of 67%, and positive likelihood ratio of 2.57 (AUC = 0.789, 95% CI 0.69-0.88, p < 0.0001). In neuropathologically defined subgroups, neuropsychological profiles have modest ability to distinguish patients with AD from those with SIVD. © 2017 S. Karger AG, Basel.

Neuropsychological Profiles Differentiate Alzheimer Disease from Subcortical Ischemic Vascular Dementia in an Autopsy-Defined Cohort

PubMed Central

Ramirez-Gomez, Liliana; Zheng, Ling; Reed, Bruce; Kramer, Joel; Mungas, Dan; Zarow, Chris; Vinters, Harry; Ringman, John M.; Chui, Helena

2018-01-01

Background/Aims The aim of this study was to assess the ability of neuropsychological tests to differentiate autopsy-defined Alzheimer disease (AD) from subcortical ischemic vascular dementia (SIVD). Methods From a sample of 175 cases followed longitudinally that underwent autopsy, we selected 23 normal controls (NC), 20 SIVD, 69 AD, and 10 mixed cases of dementia. Baseline neuropsychological tests, including Memory Assessment Scale word list learning test, control oral word association test, and animal fluency, were compared between the three autopsy-defined groups. Results The NC, SIVD, and AD groups did not differ by age or education. The SIVD and AD groups did not differ by the Global Clinical Dementia Rating Scale. Subjects with AD performed worse on delayed recall (p < 0.01). A receiver operating characteristics analysis comparing the SIVD and AD groups including age, education, difference between categorical (animals) versus phonemic fluency (letter F), and the first recall from the word learning test distinguished the two groups with a sensitivity of 85%, specificity of 67%, and positive likelihood ratio of 2.57 (AUC = 0.789, 95% CI 0.69–0.88, p < 0.0001). Conclusion In neuropathologically defined subgroups, neuropsychological profiles have modest ability to distinguish patients with AD from those with SIVD. PMID:28595184

Diagnosis and Managment of Maxillary Incisor with Vertical Root Fracture: A Clinical Report with Three-Year Follow-Up

PubMed Central

Moussaoui, Eya; Chtioui, Fadwa; Douki, Nabiha

2018-01-01

According to the American Association of Endodontists, “a ‘true' vertical root fracture is defined as a complete or incomplete fracture initiated from the root at any level, usually directed buccolingually.” Vertical root fracture (VRF) usually starts from an internal dentinal crack and develops over time, due to masticatory forces and occlusal loads. When they occur in teeth, those types of fractures can present difficulties in diagnosis, and there are however many clinic and radiographical signs which can guide clinicians to the existence of the fracture. Prognosis, most often, is hopeless, and differential diagnosis from other etiologies may be difficult sometimes. In this paper, we present a case of VRF diagnosed after surgical exploration; the enlarged fracture line was filled with a fluid resin. A 36-month clinical and radiological follow-up showed an asymptomatic tooth, reduction of the periodontal probing depth from 7 mm prior to treatment to 4 mm with no signs of ankylosis. In this work, the diagnosis and treatment alternatives of vertical root fracture were discussed through the presented clinical case. PMID:29552361

Diagnosis and Managment of Maxillary Incisor with Vertical Root Fracture: A Clinical Report with Three-Year Follow-Up.

PubMed

Kallel, Ines; Moussaoui, Eya; Chtioui, Fadwa; Douki, Nabiha

2018-01-01

According to the American Association of Endodontists, "a 'true' vertical root fracture is defined as a complete or incomplete fracture initiated from the root at any level, usually directed buccolingually." Vertical root fracture (VRF) usually starts from an internal dentinal crack and develops over time, due to masticatory forces and occlusal loads. When they occur in teeth, those types of fractures can present difficulties in diagnosis, and there are however many clinic and radiographical signs which can guide clinicians to the existence of the fracture. Prognosis, most often, is hopeless, and differential diagnosis from other etiologies may be difficult sometimes. In this paper, we present a case of VRF diagnosed after surgical exploration; the enlarged fracture line was filled with a fluid resin. A 36-month clinical and radiological follow-up showed an asymptomatic tooth, reduction of the periodontal probing depth from 7 mm prior to treatment to 4 mm with no signs of ankylosis. In this work, the diagnosis and treatment alternatives of vertical root fracture were discussed through the presented clinical case.

[CLINICAL ENTITIES AND CHARACTERISTICS OF PAIN IN PATIENTS WITH RHEUMATIC DISEASES].

PubMed

Prus, Višnja; Kardum, Željka

Musculoskeletal pain is the most common symptom present in almost all rheumatic diseases. Rheumatic diseases include more than 150 clinical entities. There is no uniform classification of rheumatic diseases. In general, we distinguish inflammatory rheumatic diseases, non-inflammatory degenerative articular diseases, systemic connective tissue diseases, metabolic disorders with articular manifestations, and regional and extended pain syndromes. According to the International Association for the Study of Pain (IASP), pain is defined as an unpleasant sensation associated with tissue damage or reported simultaneously with such damage. Pain has a physical, mental, and social component. In rheumatic diseases the pain is mostly chronic and may severely impair the patient’s general condition. The defining criteria involve a period of more than 3 or 6 months, and according to some definitions more than 6 weeks. In most cases the pain is nociceptive rather than neuropathic. Musculoskeletal pain, especially chronic pain, is a global public health problem because of its prevalence, as well as the frequently associated muslculoskeletal function impairment and development of chronic pain syndrome, which can be considered as a separate clinical entity and requires a biopsychosocial treatment approach.

Gender, psychosis and psychotropic drugs: differences and similarities.

PubMed

Groleger, Urban; Novak-Grubic, Virginija

2010-06-01

Acute psychosis is diagnosed by clearly defined operational criteria embedded into international classification systems. Many studies have tried to determine the role of gender in psychosis but mainly in terms of epidemiology and course of illness, most often schizophrenia. There are however also important gender-specific differences in clinical symptoms of acute psychosis. No guidelines or treatment recommendations suggest gender as an important factor in the choice of antipsychotic treatment, which is true for all treatment modalities (antipsychotic, dose, duration). We will review shortly available literature and present some of our own research data on gender differences in clinical presentations of acute psychosis. When the diagnosis of an illness depends almost entirely on symptoms and their presentations as in the case of acute psychosis, important gender specific differences might challenge the diagnostic process as well as treatment choice and course of psychosis. Our as well as other data confirm that acute psychosis manifest itself differently in males and females. To define further the impact of observed differences we need further research into gender specific clinical and not just epidemiological variables.

Hypervirulent (hypermucoviscous) Klebsiella pneumoniae

PubMed Central

Shon, Alyssa S.; Bajwa, Rajinder P.S.; Russo, Thomas A.

2013-01-01

A new hypervirulent (hypermucoviscous) variant of Klebsiella pneumoniae has emerged. First described in the Asian Pacific Rim, it now increasingly recognized in Western countries. Defining clinical features are the ability to cause serious, life-threatening community-acquired infection in younger healthy hosts, including liver abscess, pneumonia, meningitis and endophthalmitis and the ability to metastatically spread, an unusual feature for enteric Gram-negative bacilli in the non-immunocompromised. Despite infecting a healthier population, significant morbidity and mortality occurs. Although epidemiologic features are still being defined, colonization, particularly intestinal colonization, appears to be a critical step leading to infection. However the route of entry remains unclear. The majority of cases described to date are in Asians, raising the issue of a genetic predisposition vs. geospecific strain acquisition. The traits that enhance its virulence when compared with “classical” K. pneumoniae are the ability to more efficiently acquire iron and perhaps an increase in capsule production, which confers the hypermucoviscous phenotype. An objective diagnostic test suitable for routine use in the clinical microbiology laboratory is needed. If/when these strains become increasingly resistant to antimicrobials, we will be faced with a frightening clinical scenario. PMID:23302790

Usefulness of Cone-Beam Computed Tomography and Automatic Vessel Detection Software in Emergency Transarterial Embolization.

PubMed

Carrafiello, Gianpaolo; Ierardi, Anna Maria; Duka, Ejona; Radaelli, Alessandro; Floridi, Chiara; Bacuzzi, Alessandro; de Bucourt, Maximilian; De Marchi, Giuseppe

2016-04-01

This study was designed to evaluate the utility of dual phase cone beam computed tomography (DP-CBCT) and automatic vessel detection (AVD) software to guide transarterial embolization (TAE) of angiographically challenging arterial bleedings in emergency settings. Twenty patients with an arterial bleeding at computed tomography angiography and an inconclusive identification of the bleeding vessel at the initial 2D angiographic series were included. Accuracy of DP-CBCT and AVD software were defined as the ability to detect the bleeding site and the culprit arterial bleeder, respectively. Technical success was defined as the correct positioning of the microcatheter using AVD software. Clinical success was defined as the successful embolization. Total volume of iodinated contrast medium and overall procedure time were registered. The bleeding site was not detected by initial angiogram in 20% of cases, while impossibility to identify the bleeding vessel was the reason for inclusion in the remaining cases. The bleeding site was detected by DP-CBCT in 19 of 20 (95%) patients; in one case CBCT-CT fusion was required. AVD software identified the culprit arterial branch in 18 of 20 (90%) cases. In two cases, vessel tracking required manual marking of the candidate arterial bleeder. Technical success was 95%. Successful embolization was achieved in all patients. Mean contrast volume injected for each patient was 77.5 ml, and mean overall procedural time was 50 min. C-arm CBCT and AVD software during TAE of angiographically challenging arterial bleedings is feasible and may facilitate successful embolization. Staff training in CBCT imaging and software manipulation is necessary.

Tracking Parkinson's: Study Design and Baseline Patient Data.

PubMed

Malek, Naveed; Swallow, Diane M A; Grosset, Katherine A; Lawton, Michael A; Marrinan, Sarah L; Lehn, Alexander C; Bresner, Catherine; Bajaj, Nin; Barker, Roger A; Ben-Shlomo, Yoav; Burn, David J; Foltynie, Thomas; Hardy, John; Morris, Huw R; Williams, Nigel M; Wood, Nicholas; Grosset, Donald G

2015-01-01

There is wide variation in the phenotypic expression of Parkinson's disease (PD), which is driven by both genetic and epidemiological influences. To define and explain variation in the clinical phenotype of PD, in relation to genotypic variation. Tracking Parkinson's is a multicentre prospective longitudinal epidemiologic and biomarker study of PD. Patients attending specialist clinics in the United Kingdom with recent onset (<3.5 years) and young onset (diagnosed <50 years of age) PD were enrolled. Motor, non-motor and quality of life assessments were performed using validated scales. Cases are followed up 6 monthly up to 4.5 years for recent onset PD, and up to 1 year for young onset PD. We present here baseline clinical data from this large and demographically representative cohort. 2247 PD cases were recruited (1987 recent onset, 260 young onset). Recent onset cases had a mean (standard deviation, SD) age of 67.6 years (9.3) at study entry, 65.7% males, with disease duration 1.3 years (0.9), MDS-UPDRS 3 scores 22.9 (12.3), LEDD 295 mg/day (211) and PDQ-8 score 5.9 (4.8). Young onset cases were 53.5 years old (7.8) at study entry, 66.9% male, with disease duration 10.2 years (6.7), MDS-UPDRS 3 scores 27.4 (15.3), LEDD 926 mg/day (567) and PDQ-8 score 11.6 (6.1). We have established a large clinical PD cohort, consisting of young onset and recent onset cases, which is designed to evaluate variation in clinical expression, in relation to genetic influences, and which offers a platform for future imaging and biomarker research.

Mild cognitive impairment: applicability of research criteria in a memory clinic and characterization of cognitive profile.

PubMed

Alladi, Suvarna; Arnold, Robert; Mitchell, Joanna; Nestor, Peter J; Hodges, John R

2006-04-01

We explored the applicability of recently proposed research criteria for mild cognitive impairment (MCI) in a memory clinic and changes in case definition related to which memory tests are used and the status of general cognitive function in MCI. A total of 166 consecutive GP referrals to the Cambridge Memory Clinic underwent comprehensive neuropsychological and psychiatric evaluation. Of 166 cases, 42 were excluded (significant depression 8, established dementia 29 and other disorders 5). Of 124 non-demented, non-depressed patients, 72 fulfilled Petersen's criteria for amnestic MCI based upon verbal memory performance [the Rey Auditory Verbal Learning Test (RAVLT)] and 90 met criteria if performance on verbal and/or non-verbal memory tests [the Rey figure recall or the Paired Associates Learning test (PAL)] was considered. Of the 90 broadly defined MCI cases, only 25 had pure amnesia: other subtle semantic and/or attention deficits were typically present. A further 12 were classed as non-amnestic MCI and 22 as 'worried well'. Definition of MCI varies considerably dependent upon the tests used for case definition. The majority have other cognitive deficits despite normal performance on the Mini-mental State Examination (MMSE) and intact activities of daily living (ADL) and fit within multi-domain MCI. Pure amnesic MCI is rare.

Research misconduct and data fraud in clinical trials: prevalence and causal factors.

PubMed

George, Stephen L

2016-02-01

The disclosure of cases of research misconduct in clinical trials, conventionally defined as fabrication, falsification or plagiarism, has been a disturbingly common phenomenon in recent years. Such cases can potentially harm patients enrolled on the trials in question or patients treated based on the results of those trials and can seriously undermine the scientific and public trust in the validity of clinical trial results. Here, I review what is known about the prevalence of research misconduct in general and the contributing or causal factors leading to the misconduct. The evidence on prevalence is unreliable and fraught with definitional problems and with study design issues. Nevertheless, the evidence taken as a whole seems to suggest that cases of the most serious types of misconduct, fabrication and falsification (i.e., data fraud), are relatively rare but that other types of questionable research practices are quite common. There have been many individual, institutional and scientific factors proposed for misconduct but, as is the case with estimates of prevalence, reliable empirical evidence on the strength and relative importance of these factors is lacking. However, it seems clear that the view of misconduct as being simply the result of aberrant or self-delusional personalities likely underestimates the effect of other important factors and inhibits the development of effective prevention strategies.

Granular cell tumour of the neurohypophysis: an unusual cause of hypopituitarism.

PubMed

Bello, Carlos Tavares; Cipriano, Patricia; Henriques, Vanessa; Duarte, João Sequeira; Marques, Conceição Canas

2018-01-01

Granular cell tumours (GCT) are rare, slow-growing, benign neoplasms that are usually located in the head and neck. They are more frequent in the female gender and typically have an asymptomatic clinical course, being diagnosed only at autopsy. Symptomatic GCT of the neurohypophysis are exceedingly rare, being less than 70 cases described so far. The authors report on a case of a 28-year-old male that presented to the Endocrinology clinic with clinical and biochemical evidence of hypogonadism. He also reported minor headaches without any major visual symptoms. Further laboratory tests confirmed hypopituitarism (hypogonadotrophic hypogonadism, central hypothyroidism and hypocortisolism) and central nervous system imaging revealed a pituitary macroadenoma. The patient underwent transcranial pituitary adenoma resection and the pathology report described a GCT of the neurohypophysis with low mitotic index. The reported case is noteworthy for the rarity of the clinicopathological entity. Symptomatic GCTs are rare CNS tumours whose cell of origin is not well defined that usually give rise to visual symptoms, headache and endocrine dysfunction.Imaging is quite unspecific and diagnosis is difficult to establish preoperatively.Surgical excision is challenging due to lesion's high vascularity and propensity to adhere to adjacent structures.The reported case is noteworthy for the rarity of the clinicopathological entity.

10 years of surveillance of human tularaemia in France.

PubMed

Mailles, A; Vaillant, V

2014-11-13

Tularaemia has been mandatorily notifiable in France since October 2002. The surveillance aims to detect early any infection possibly due to bioterrorism and to follow up disease trends. We report the results of national surveillance from 2002 to 2012. A case is defined as a patient with clinical presentation suggestive of tularaemia and biological confirmation of infection or an epidemiological link with a biologically confirmed case. Clinical, biological and epidemiological data are collected using a standardised notification form. From 2002 to 2012, 433 cases were notified, with a median age of 49 years (range 2 to 95 years) and a male–female sex ratio of 1.8. Most frequent clinical presentations were glandular tularaemia (n=200; 46%) and ulceroglandular tularaemia (n=113; 26%). Most frequent at-risk exposures were handling hares (n=179; 41%) and outdoor leisure exposure to dust aerosols (n=217; 50%). Tick bites were reported by 82 patients (19%). Ten clusters (39 cases) were detected over the 10-year period, as well as a national outbreak during winter 2007/2008. The tularaemia surveillance system is able to detect small clusters as well as major outbreaks. Surveillance data show exposure to dust aerosols during outdoor leisure activities to be a major source of contamination in France.

Vulvovaginitis: clinical features, aetiology, and microbiology of the genital tract

PubMed Central

Jaquiery, A; Stylianopoulos, A; Hogg, G; Grover, S

1999-01-01

AIM—To clarify the contribution of clinical and environmental factors and infection to the aetiology of vulvovaginitis in premenarchal girls, and to determine clinical indicators of an infectious cause.
DESIGN—It was necessary first to define normal vaginal flora. Cases were 50 premenarchal girls > 2 years old with symptoms of vulvovaginitis; 50 controls were recruited from girls in the same age group undergoing minor or elective surgery.
RESULTS—Interview questionnaire showed no difference between cases and controls in regards to hygiene practices, exposure to specific irritants, or history of possible sexual abuse. Normal vaginal flora was similar to that described in previous studies, with the exception of organisms likely to be associated with sexual activity. 80% of cases had no evidence of an infectious cause. In the 10 cases in whom an infectious cause was found, there was significantly more visible discharge and distinct redness of the genital area on examination compared with other cases.
CONCLUSIONS— The findings suggest that vulvovaginitis in this age group is not usually infectious or necessarily related to poor hygiene, specific irritants or sexual abuse, although any of these can present with genital irritation. The possibility of sexual abuse should always be considered when a child presents with genital symptoms, but our data indicate it is not a common contributing factor. Infection is generally associated with vaginal discharge and moderate or severe inflammation.

 PMID:10373139

Tracheo-bronchial foreign bodies: a retrospective study and review of literature.

PubMed

Jaswal, Abhishek; Jana, Utpal; Maiti, Pradip Kumar

2014-01-01

Tracheobronchial foreign body aspiration is a common emergency in childhood constituting major cause of mortality. Although ample studies regarding airway foreign bodies are present in western literature, studies in Indian context are however lacking. The aim of the study is to present an epidemiological data regarding airway foreign bodies in Indian context thereby helping to analyze the situation with regard to our socio-economic condition. Retrospective file review of all case (n = 82) that underwent rigid bronchoscopy for suspected tracheo-bronchial foreign body over a period of 7 years (2001-2008) in the department of otolaryngology of a tertiary care centre of eastern India. Patient characteristics, history, clinical, radiographic and bronchoscopic findings were noted in an attempt to define the epidemiology, clinical presentation, management and associated morbidity. Most common age of presentation was between 1 and 3 years (56.4%). Most common symptom in our study was Cough, wheezing and respiratory distress (63.4%). Most common clinical signs at presentation were diminished breath sound in unilateral lung field seen in 36.6% cases. Most common radiological finding on chest radiograph was collapse seen in 41.65% cases. Most common type of foreign body below 3 years of age was food material (seeds, beans) removed in 48.78%. Complications were encountered in 14.6% cases of which most common complication was bronchospasm and acute respiratory distress seen in 41.6% cases.

A report on case reports

PubMed Central

Gopikrishna, Velayutham

2010-01-01

Case reports are defined as the scientific documentation of a single clinical observation and have a time-honored and rich tradition in medicine and scientific publication. This article discusses the role and relevance of case reports in the current evidence-based medical literature. It also seeks to help and guide authors to understand how to prepare a reasonable and well-written case report and how they may anticipate concerns that peer reviewers may express when scrutinizing their manuscript. An overview of the Journal of Conservative Dentistry’s review process of a manuscript submission is provided for the benefit of future authors. It is important to be able to read a case report critically and to use the information they contain appropriately. This article also discusses the factors to consider in evaluating individual case reports, and discusses a practical conceptual scheme for evaluating the potential value and educational content of a case report. PMID:21217956

Toward Prostate Cancer Contouring Guidelines on Magnetic Resonance Imaging: Dominant Lesion Gross and Clinical Target Volume Coverage Via Accurate Histology Fusion

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

Gibson, Eli; Biomedical Engineering, University of Western Ontario, London, Ontario; Centre for Medical Image Computing, University College London, London

Purpose: Defining prostate cancer (PCa) lesion clinical target volumes (CTVs) for multiparametric magnetic resonance imaging (mpMRI) could support focal boosting or treatment to improve outcomes or lower morbidity, necessitating appropriate CTV margins for mpMRI-defined gross tumor volumes (GTVs). This study aimed to identify CTV margins yielding 95% coverage of PCa tumors for prospective cases with high likelihood. Methods and Materials: Twenty-five men with biopsy-confirmed clinical stage T1 or T2 PCa underwent pre-prostatectomy mpMRI, yielding T2-weighted, dynamic contrast-enhanced, and apparent diffusion coefficient images. Digitized whole-mount histology was contoured and registered to mpMRI scans (error ≤2 mm). Four observers contoured lesion GTVs onmore » each mpMRI scan. CTVs were defined by isotropic and anisotropic expansion from these GTVs and from multiparametric (unioned) GTVs from 2 to 3 scans. Histologic coverage (proportions of tumor area on co-registered histology inside the CTV, measured for Gleason scores [GSs] ≥6 and ≥7) and prostate sparing (proportions of prostate volume outside the CTV) were measured. Nonparametric histologic-coverage prediction intervals defined minimal margins yielding 95% coverage for prospective cases with 78% to 92% likelihood. Results: On analysis of 72 true-positive tumor detections, 95% coverage margins were 9 to 11 mm (GS ≥ 6) and 8 to 10 mm (GS ≥ 7) for single-sequence GTVs and were 8 mm (GS ≥ 6) and 6 mm (GS ≥ 7) for 3-sequence GTVs, yielding CTVs that spared 47% to 81% of prostate tissue for the majority of tumors. Inclusion of T2-weighted contours increased sparing for multiparametric CTVs with 95% coverage margins for GS ≥6, and inclusion of dynamic contrast-enhanced contours increased sparing for GS ≥7. Anisotropic 95% coverage margins increased the sparing proportions to 71% to 86%. Conclusions: Multiparametric magnetic resonance imaging–defined GTVs expanded by appropriate margins may support focal boosting or treatment of PCa; however, these margins, accounting for interobserver and intertumoral variability, may preclude highly conformal CTVs. Multiparametric GTVs and anisotropic margins may reduce the required margins and improve prostate sparing.« less

Identification of Urban Leprosy Clusters

PubMed Central

Paschoal, José Antonio Armani; Paschoal, Vania Del'Arco; Nardi, Susilene Maria Tonelli; Rosa, Patrícia Sammarco; Ismael, Manuela Gallo y Sanches; Sichieri, Eduvaldo Paulo

2013-01-01

Overpopulation of urban areas results from constant migrations that cause disordered urban growth, constituting clusters defined as sets of people or activities concentrated in relatively small physical spaces that often involve precarious conditions. Aim. Using residential grouping, the aim was to identify possible clusters of individuals in São José do Rio Preto, Sao Paulo, Brazil, who have or have had leprosy. Methods. A population-based, descriptive, ecological study using the MapInfo and CrimeStat techniques, geoprocessing, and space-time analysis evaluated the location of 425 people treated for leprosy between 1998 and 2010. Clusters were defined as concentrations of at least 8 people with leprosy; a distance of up to 300 meters between residences was adopted. Additionally, the year of starting treatment and the clinical forms of the disease were analyzed. Results. Ninety-eight (23.1%) of 425 geocoded cases were located within one of ten clusters identified in this study, and 129 cases (30.3%) were in the region of a second-order cluster, an area considered of high risk for the disease. Conclusion. This study identified ten clusters of leprosy cases in the city and identified an area of high risk for the appearance of new cases of the disease. PMID:24288467

Gorlin-Goltz syndrome in a child: case report and clinical review.

PubMed

Snoeckx, A; Vanhoenacker, F M; Verhaert, K; Chappelle, K; Parizel, P M

2008-01-01

Gorlin-Goltz syndrome is a rare autosomal dominant disorder that involves multiple organ systems, including the skin, skeleton and jaws. We report the case of a mild mentally retarded 7-year-old boy who was referred with a swelling of his left mandible. Imaging studies showed a unilocular well-defined lytic mandibular lesion, calcifications of the falx, bifid ribs and fusion anomalies of the ribs. The mandibular lesion was treated with surgical decompression and proved to represent a keratocyst on histological examination. Further clinical examination revealed cutaneous lesions, Sprengel deformity, pectus excavatum and facial dysmorphism. Based on the combination of imaging and clinical findings the diagnosis of Gorlin-Goltz syndrome was made. This was confirmed by genetic tests. During three-year follow-up the boy presented with recurrent and multiple odontogenic keratocysts. The occurrence of multiple and recurrent keratocysts at young age, should alert the radiologist to the potential diagnosis of an underlying Gorlin-Goltz syndrome. This paper reviews the imaging findings in Gorlin-Goltz syndrome, with emphasis on maxillofacial imaging.

Reliability Stress-Strength Models for Dependent Observations with Applications in Clinical Trials

NASA Technical Reports Server (NTRS)

Kushary, Debashis; Kulkarni, Pandurang M.

1995-01-01

We consider the applications of stress-strength models in studies involving clinical trials. When studying the effects and side effects of certain procedures (treatments), it is often the case that observations are correlated due to subject effect, repeated measurements and observing many characteristics simultaneously. We develop maximum likelihood estimator (MLE) and uniform minimum variance unbiased estimator (UMVUE) of the reliability which in clinical trial studies could be considered as the chances of increased side effects due to a particular procedure compared to another. The results developed apply to both univariate and multivariate situations. Also, for the univariate situations we develop simple to use lower confidence bounds for the reliability. Further, we consider the cases when both stress and strength constitute time dependent processes. We define the future reliability and obtain methods of constructing lower confidence bounds for this reliability. Finally, we conduct simulation studies to evaluate all the procedures developed and also to compare the MLE and the UMVUE.

Automatic segmentation of male pelvic anatomy on computed tomography images: a comparison with multiple observers in the context of a multicentre clinical trial.

PubMed

Geraghty, John P; Grogan, Garry; Ebert, Martin A

2013-04-30

This study investigates the variation in segmentation of several pelvic anatomical structures on computed tomography (CT) between multiple observers and a commercial automatic segmentation method, in the context of quality assurance and evaluation during a multicentre clinical trial. CT scans of two prostate cancer patients ('benchmarking cases'), one high risk (HR) and one intermediate risk (IR), were sent to multiple radiotherapy centres for segmentation of prostate, rectum and bladder structures according to the TROG 03.04 "RADAR" trial protocol definitions. The same structures were automatically segmented using iPlan software for the same two patients, allowing structures defined by automatic segmentation to be quantitatively compared with those defined by multiple observers. A sample of twenty trial patient datasets were also used to automatically generate anatomical structures for quantitative comparison with structures defined by individual observers for the same datasets. There was considerable agreement amongst all observers and automatic segmentation of the benchmarking cases for bladder (mean spatial variations < 0.4 cm across the majority of image slices). Although there was some variation in interpretation of the superior-inferior (cranio-caudal) extent of rectum, human-observer contours were typically within a mean 0.6 cm of automatically-defined contours. Prostate structures were more consistent for the HR case than the IR case with all human observers segmenting a prostate with considerably more volume (mean +113.3%) than that automatically segmented. Similar results were seen across the twenty sample datasets, with disagreement between iPlan and observers dominant at the prostatic apex and superior part of the rectum, which is consistent with observations made during quality assurance reviews during the trial. This study has demonstrated quantitative analysis for comparison of multi-observer segmentation studies. For automatic segmentation algorithms based on image-registration as in iPlan, it is apparent that agreement between observer and automatic segmentation will be a function of patient-specific image characteristics, particularly for anatomy with poor contrast definition. For this reason, it is suggested that automatic registration based on transformation of a single reference dataset adds a significant systematic bias to the resulting volumes and their use in the context of a multicentre trial should be carefully considered.

Data standards for clinical research data collection forms: current status and challenges.

PubMed

Richesson, Rachel L; Nadkarni, Prakash

2011-05-01

Case report forms (CRFs) are used for structured-data collection in clinical research studies. Existing CRF-related standards encompass structural features of forms and data items, content standards, and specifications for using terminologies. This paper reviews existing standards and discusses their current limitations. Because clinical research is highly protocol-specific, forms-development processes are more easily standardized than is CRF content. Tools that support retrieval and reuse of existing items will enable standards adoption in clinical research applications. Such tools will depend upon formal relationships between items and terminological standards. Future standards adoption will depend upon standardized approaches for bridging generic structural standards and domain-specific content standards. Clinical research informatics can help define tools requirements in terms of workflow support for research activities, reconcile the perspectives of varied clinical research stakeholders, and coordinate standards efforts toward interoperability across healthcare and research data collection.

Locally aggressive and multifocal phosphaturic mesenchymal tumors: two unusual cases of tumor-induced osteomalacia.

PubMed

Higley, Meghan; Beckett, Brooke; Schmahmann, Sandra; Dacey, Elizabeth; Foss, Erik

2015-12-01

Tumor-induced osteomalacia (TIO) has long been recognized as a clinical paraneoplastic syndrome. The identification of a unique histopathologic entity, the phosphaturic mesenchymal tumor (PMT), as a distinct etiology for TIO has been a more recent discovery. The majority of published cases describe a solitary, non-aggressive appearing soft tissue or osseous lesions in patients with osteomalacia; aggressive appearing or multifocal lesions appear to be exceedingly rare. These tumors characteristically secrete fibroblast growth factor 23 (FGF23). Elevated serum levels of FGF23 result in phosphate wasting and osteomalacia. In the majority of cases, laboratory abnormalities and clinical signs and symptoms of osteomalacia precede identification of the causative lesion by years. Following diagnosis, complete resection with wide margins to prevent local recurrence is most often curative. Imaging characteristics of PMT are diverse and remain incompletely defined, as the majority of previous publications are outside of the radiologic literature. We present multiple imaging modalities in two cases of patients with debilitating osteomalacia and unusual appearing PMTs: one with a locally aggressive lesion leading to pathologic fracture, the second presenting with exceedingly rare multifocal PMT.

Electronic diary evidence on energy erosion in clinical burnout.

PubMed

Sonnenschein, Mieke; Sorbi, Marjolijn J; van Doornen, Lorenz J P; Schaufeli, Wilmar B; Maas, Cora J M

2007-10-01

Burnout is generally defined as a state of severe exhaustion. So far, research has predominantly focused on relatively mild burnout in employees able to work despite their complaints. This study examines energy depletion in clinical burnout (e.g., the severest cases on extended sick leave) by comparing the diurnal patterns of fatigue and exhaustion with those of healthy individuals. Sixty clinically burned-out and 40 healthy participants kept an electronic diary for 14 days, 7 times a day, yielding a total of 8,116 diary entries. This study shows that burned-out individuals typically suffer continuously from a severe fatigue throughout the day. The resulting flattened diurnal cycles mark a stable exhaustion that is uncommon in healthy persons. The current results provide novel support for the existence of severe energy erosion in clinical burnout.

Elephantiasis nostras verrucosa or "mossy foot lesions" in lymphedema praecox: report of a case.

PubMed

Duckworth, Amy L; Husain, Jugnoo; Deheer, Patrick

2008-01-01

Elephantiasis nostras verrucosa is a rare disorder that results from chronic obstructive lymphedema. It is characterized clinically by deforming, nonpitting edema; malodorous hyperkeratosis with generalized lichenification; cobblestoned papules; and verrucous changes, that often result in extreme enlargement of the involved body part. Although elephantiasis nostras verrucosa is striking in clinical appearance, biopsy reveals only moderately abnormal findings: pseudoepitheliomatous hyperplasia with dilated lymphatic spaces in the dermis, accompanied by chronic inflammation and fibroblast proliferation. The term elephantiasis nostras (nostras means "from our region") has traditionally been used to differentiate temperate zone disease from the classic disease process, elephantiasis tropica, which is defined by chronic filarial lymphatic obstruction caused by Wuchereria bancrofti, Wuchereria malayi, or Wuchereria pacifica. We present a case report of elephantiasis nostras verrucosa arising as a result of lymphedema praecox.

A case of De Garengeot hernia requiring early surgery

PubMed Central

Pan, Chao-Wen; Tsao, Min-Jen; Su, Ming-Shan

2015-01-01

De Garengeot hernia is a rare clinical entity defined as the presence of a vermiform appendix within a femoral hernia sac. A 50-year-old woman presented to the emergency department with a painful lump over her right groin region. A bedside ultrasound was performed and soft tissue lesion was suspected. CT was performed and revealed a swollen tubular structure with fat stranding within the mass. De Garengeot hernia with acute appendicitis was diagnosed preoperatively, and an emergency appendectomy and hernioplasty were performed. Although it is usually an incidental finding during hernioplasty, De Garengeot hernia should be considered in the differential diagnosis of patients with an incarcerated femoral hernia. Mesh repair can be performed depending on the clinical situation. We report a rare case of incarcerated femoral hernia with acute appendicitis that required early surgical management to avoid associated complications. PMID:26199302

Fluoroscopic guide wire manipulation of malfunctioning peritoneal dialysis catheters initially placed by interventional radiologists.

PubMed

Kwon, Young Ho; Kwon, Se Hwan; Oh, Joo Hyeong; Jeong, Kyung Hwan; Lee, Tae Won

2014-06-01

To assess the efficacy of fluoroscopic guide wire manipulation in patients with malfunctioning peritoneal dialysis (PD) catheters that were initially placed by interventional radiologists under fluoroscopic guidance. From January 2002 to April 2012, 52 patients (mean age, 52.8 y ± 2.10s; range, 12-79 y) with malfunctioning PD catheters in whom fluoroscopic guide wire manipulation was performed were retrospectively reviewed. Technical success, clinical success, and complications were evaluated. Technical success was defined as fluoroscopically verified, successful catheter repositioning and adequate dialysate drainage after the procedure. Clinical success was defined as maintenance of PD catheter function for at least 30 days after the manipulation. During the study period, 72 manipulations (68 initial manipulations and 4 remanipulations) for malfunctioning PD catheters were done. The technical success rate was 74% (50 of 68) for initial manipulations and 75% (3 of 4) for remanipulations. The overall clinical success rate was 47% (32 of 68) for initial manipulations and 0% (0 of 4) for remanipulations. The primary causes of catheter malfunction were extraluminal obstruction by omental wrapping or adhesions in 43 of 68 cases (63.2%) and catheter malposition in 25 of 68 (36.8%) cases. There were no procedure-related major complications. Fluoroscopic guide wire manipulation in patients with malfunctioning PD catheters initially placed by interventional radiologists is a simple procedure, an effective way of prolonging PD catheter life, and a recommended procedure before invasive surgical procedures. Copyright © 2014 SIR. Published by Elsevier Inc. All rights reserved.

Potency assay development for cellular therapy products: an ISCT review of the requirements and experiences in the industry.

PubMed

Bravery, Christopher A; Carmen, Jessica; Fong, Timothy; Oprea, Wanda; Hoogendoorn, Karin H; Woda, Juliana; Burger, Scott R; Rowley, Jon A; Bonyhadi, Mark L; Van't Hof, Wouter

2013-01-01

The evaluation of potency plays a key role in defining the quality of cellular therapy products (CTPs). Potency can be defined as a quantitative measure of relevant biologic function based on the attributes that are linked to relevant biologic properties. To achieve an adequate assessment of CTP potency, appropriate in vitro or in vivo laboratory assays and properly controlled clinical data need to be created. The primary objective of a potency assay is to provide a mechanism by which the manufacturing process and the final product for batch release are scrutinized for quality, consistency and stability. A potency assay also provides the basis for comparability assessment after process changes, such as scale-up, site transfer and new starting materials (e.g., a new donor). Potency assays should be in place for early clinical development, and validated assays are required for pivotal clinical trials. Potency is based on the individual characteristics of each individual CTP, and the adequacy of potency assays will be evaluated on a case-by-case basis by regulatory agencies. We provide an overview of the expectations and challenges in development of potency assays specific for CTPs; several real-life experiences from the cellular therapy industry are presented as illustrations. The key observation and message is that aggressive early investment in a solid potency evaluation strategy can greatly enhance eventual CTP deployment because it can mitigate the risk of costly product failure in late-stage development. Copyright © 2013. Published by Elsevier Inc.

Sarcoidosis of the central nervous system: clinical features, imaging, and CSF results.

PubMed

Kidd, Desmond P

2018-06-19

Neurological complications of systemic sarcoidosis are uncommon and the natural history and optimal treatments under-researched. With the advent of modern biological therapies, it is important to define the clinical characteristics and immunopathology of the disease. Patients referred to and treated within the Centre for Neurosarcoidosis over a 15 year period who had biopsy-proven "highly probable" disease of the central nervous system were studied prospectively. 166 patients were studied, of whom two-thirds had involvement of the brain and spinal cord and the remainder cranial neuropathies and radiculopathy. Imaging was abnormal in all those with meningeal and parenchymal diseases, and was normal in 37% of those with cranial neuropathy. Those with leptomeningeal disease had a more severe disorder, with hydrocephalus and tissue destruction, whereas those with pachymeningeal disease had more striking imaging features but less neurological impairment. The CSF was active in 70% of cases, even when imaging was normal. Disability correlated with CSF indices in those with a leptomeningitis. Oligoclonal bands were seen in 30% of cases and correlated with disability and the presence of hydrocephalus. Unmatched bands were seen only in isolated neurological disease. This prospective study of neurosarcoidosis increases our understanding of the pathophysiology of the disease. A reclassification of the clinical and imaging features of the disease allows an understanding of its pathophysiology and correlation with CSF indices allows an early identification of those with a more destructive disease will help to define treatment and may thereby improve outcome.

Synovial chondromatosis of the temporomandibular joint.

PubMed

Reyes Macías, Juan Francisco; Sánchez Prieto, Martín

2007-01-01

Synovial Chondromatosis (SC) is a disease whose etiology is unknown, can be defined as a benign synovial process characterized by the formation of metaplastic cartilaginous nodes inside connective tissue of articular surfaces, is considered an active metaplastic phenomenon better than a neoplastic process; it presents a greater preference to affect women who constitute almost 70% of reported cases, the age range is wide and oscillates between 18-75 years (average 44.6 years). Between the main clinical findings are: pain, crackle, volume augmentation and a limited buccal opening. SC is an unusual state and the reports in the English literature are no more than 75 cases, only 66 of those where histologically verified, most of those were affecting great joints like hip, knee and shoulder, but if SC is not frequent in this sites, is even more infrequent on temporomandibular joint. The aim of this paper is to report a clinical case and at the same time to realize a brief review of the literature.

A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism

PubMed Central

Calkavur, Sebnem; Buyukinan, Muammer; Altay, Canan

2015-01-01

Malignant infantile osteopetrosis is a rarely seen severe disorder which appears early in life with general sclerosis of the skeleton. It is caused by functionally defective osteoclasts which fail to resorb bone. Affected infants can exhibit a wide spectrum of clinical manifestations including impaired hematopoiesis, hepatosplenomegaly, visual impairment, and hypocalcemia. With the exception of secondary hyperparathyroidism, involvement of the endocrine system seems to be quite rare. Hypopituitarism is defined as underproduction of the growth hormone in combination with deficiencies of other pituitary hormones. Any lesion that damages hypothalamus, pituitary stalk, or anterior pituitary can cause secondary hypopituitarism. In this report, we presented a rare combination of malignant infantile osteopetrosis and secondary hypopituitarism in a newborn who presented predominantly with endocrinological symptoms. This is the first case report of malignant infantile osteopetrosis accompanied by hypopituitarism secondary to sclerosis of the sella turcica. On the other hand, this is a very interesting case which was diagnosed based on histological examination of bone marrow biopsy specimens despite lack of any clinical suspicion. PMID:26576309

Positive Effect of Acupuncture and Cupping in Infertility Treatment.

PubMed

Wang, Jun-Xiang; Yang, Yang; Song, Yue; Ma, Liang-Xiao

2018-04-01

Background: Infertility is clinically defined as the failure to conceive after 12 months of unprotected sexual intercourse. Organic disorders and lifestyle factors are highly associated with infertility. Generally, acupuncture and its related methods can be applied for treating infertility, according to the theory of Traditional Chinese Medicine. Successful cases of acupuncture-treated infertility without concomitant use of any medication are rare. This article presents a case of an infertile woman having a favorable response to acupuncture treatment. Case: A 39-year-old Mexican woman presented with infertility following right-side fallopian-tube obstruction. She had no significant physical feelings of discomfort apart from work-related stress. Her syndrome was first diagnosed as Deficiency of Spleen and Kidney Qi, accompanied by obstruction of channels due to accumulation of Dampness. Acupuncture, accompanied by cupping therapy, was primarily practiced for this patient. Results: After 28 treatment sessions, she was finally able to conceive. Conclusions: Acupuncture could help treat infertility. Further large-scale, randomized clinical trials are needed to verify the efficacy of acupuncture for treating female infertility.

Early wound site seeding in a patient with CNS high-grade neuroepithelial tumor with BCOR alteration: A case report.

PubMed

Kirkman, Matthew A; Pickles, Jessica C; Fairchild, Amy R; Avery, Aimee; Pietsch, Torsten; Jacques, Thomas S; Aquilina, Kristian

2018-05-30

Advances in molecular profiling have facilitated the emergence of newly defined entities of central nervous system tumor, including CNS high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR). Relatively little is known about the clinical behaviour of these newly-characterized tumors. We describe a pediatric male patient with CNS HGNET-BCOR who developed seeding of the tumor into the site of the surgical wound within months of surgery for resection of a residual posterior fossa tumor. This case emphasises three important points. First, CNS HGNET-BCOR can be aggressive tumors that necessitate close clinical and radiological surveillance. Second, surveillance imaging in such cases should incorporate the surgical incision site into the field of view, and this should be closely scrutinised to ensure the timely detection of wound site seeding. Third, wound site seeding may still occur despite the use of meticulous surgical techniques. Copyright © 2018. Published by Elsevier Inc.

Quantitative evaluation of the voice range profile in patients with voice disorder.

PubMed

Ikeda, Y; Masuda, T; Manako, H; Yamashita, H; Yamamoto, T; Komiyama, S

1999-01-01

In 1953, Calvet first displayed the fundamental frequency (pitch) and sound pressure level (intensity) of a voice on a two-dimensional plane and created a voice range profile. This profile has been used to evaluate clinically various vocal disorders, although such evaluations to date have been subjective without quantitative assessment. In the present study, a quantitative system was developed to evaluate the voice range profile utilizing a personal computer. The area of the voice range profile was defined as the voice volume. This volume was analyzed in 137 males and 175 females who were treated for various dysphonias at Kyushu University between 1984 and 1990. Ten normal subjects served as controls. The voice volume in cases with voice disorders significantly decreased irrespective of the disease and sex. Furthermore, cases having better improvement after treatment showed a tendency for the voice volume to increase. These findings illustrated the voice volume as a useful clinical test for evaluating voice control in cases with vocal disorders.

Tuberculosis-associated Fibrosing Mediastinitis: Case Report and Literature Review.

PubMed

Tan, Ronald; Martires, Joanne; Kamangar, Nader

2016-01-01

Fibrosing mediastinitis is a rare condition defined by the presence of fibrotic mediastinal infiltrates that obliterate normal fat planes. It is a late complication of a previous granulomatous infection, such as histoplasmosis or tuberculosis (TB). Due to its rarity, fibrosing mediastinitis is often under-recognized, and the clinical presentation is variable and dependent on the extent of infiltration or encasement of structures within the mediastinum. We present a case of fibrosing mediastinitis in a man with a prior history of TB, who presented with progressive dyspnea and was found to have chronic mediastinal soft tissue opacities and pulmonary hypertension. His diagnosis was delayed due to the lack of recognition of this clinical/radiographic entity. Fibrosing mediastinitis is a rare entity usually caused by granulomatous disease. Most cases develop as a late complication of histoplasmosis or TB. The presence of calcified mediastinal soft tissue infiltrates on advanced chest imaging can be diagnostic of fibrosing mediastinitis in patients with a prior history of a granulomatous infection once active processes such as malignancy are excluded.

Seromucinous component in endometrioid endometrial carcinoma as a histological predictor of prognosis.

PubMed

Miyamoto, Morikazu; Takano, Masashi; Aoyama, Tadashi; Soyama, Hiroaki; Yoshikawa, Tomoyuki; Tsuda, Hitoshi; Furuya, Kenichi

2018-03-01

In 2014 World Health Organization criteria, seromucinous carcinoma was defined as a new histological subtype in ovarian carcinomas, but "seromucinous carcinoma" was not defined in endometrial carcinomas. The aim of this study was to identify seromucinous carcinoma resembling ovarian seromucinous carcinoma in endometrial carcinomas, and to evaluate the clinical significance for prognoses of the patients. Central pathological review was conducted for patients with endometrioid carcinoma of the endometrium treated by primary surgery at our hospital between 1990 and 2013. Among 340 cases included in the study, no case had all tumor cells resembling ovarian seromucinous carcinoma in all specimens, and 31 cases (9.1%) had seromucinous component in combination with endometrioid carcinomas. Immunohistochemical analysis revealed seromucinous component had positive reactivity for cytokeratin (CK) 7, and negative reactivity for CK20 and caudal type homeobox 2 (CDX2) in all cases. Seromucinous component showed lower immunoreactivity of estrogen receptor and progesterone receptor, compared with endometrioid carcinoma component. Progression-free survival of the cases with seromucinous component was better than those without seromucinous component (p=0.049). Seromucinous component was identified in approximately 10% of endometrioid carcinoma, and could be a histological predictor for prognosis. Copyright © 2018. Asian Society of Gynecologic Oncology, Korean Society of Gynecologic Oncology

Epidemiology and Clinical Relevance of Toxic Shock Syndrome in US Children.

PubMed

Gaensbauer, James T; Birkholz, Meghan; Smit, Michael A; Garcia, Roger; Todd, James K

2018-03-27

It is important for clinicians to recognize the contribution of toxic shock syndrome (TSS) to the overall burden of pediatric septic shock because the clinical features, optimal therapy and prognosis differ from non-TSS septic shock. We analyzed cases of pediatric septic shock reported to the Pediatric Health Information Systems (PHIS) database between 2009 and 2013 to define the clinical and demographic characteristics of pediatric TSS in the US. Using a validated ICD-9 coding strategy we identified patients with infectious shock among inpatients age 1 to 18 years, and classified cases of staphylococcal and streptococcal TSS for comparison with non-TSS cases. Of 8,226 cases of pediatric septic shock, 909 (11.1%) were classified as TSS and 562 (6.8%) were possible TSS cases. Staphylococcal TSS represented the majority (83%) of TSS cases, and occurred more commonly in females and at an older age. Compared with non-TSS septic shock, TSS had significantly lower fatality rates, disease severity, and length of hospital stay, and was present more often at the time of admission (p<0.001 for each). Streptococcal TSS was associated with poorer outcomes than staphylococcal TSS. Treatment for TSS differed from non-TSS septic shock in use of more clindamycin, vancomycin and IVIG, and less need for vasopressors. Results demonstrate a significant contribution of TSS to the burden of pediatric septic shock in the US. The findings emphasize the importance of inclusion of TSS diagnostic and therapeutic considerations in sepsis treatment protocols for children.

Laboratory confirmation of measles in elimination settings: experience from the Republic of the Marshall Islands, 2003.

PubMed

Hyde, Terri B; Nandy, Robin; Hickman, Carole J; Langidrik, Justina R; Strebel, Peter M; Papania, Mark J; Seward, Jane F; Bellini, William J

2009-02-01

To highlight the complications involved in interpreting laboratory tests of measles immunoglobulin M (IgM) for confirmation of infection during a measles outbreak in a highly vaccinated population after conducting a mass immunization campaign as a control measure. This case study was undertaken in the Republic of the Marshall Islands during a measles outbreak in 2003, when response immunization was conducted. A measles case was defined as fever and rash and one or more of cough, coryza or conjunctivitis. Between 13 July and 7 November 2003, serum samples were obtained from suspected measles cases for serologic testing and nasopharyngeal swabs were taken for viral isolation by reverse transcriptase polymerase chain reaction (RT-PCR). Specimens were collected from 201 suspected measles cases (19% of total): of the ones that satisfied the clinical case definition, 45% were IgM positive (IgM+) and, of these, 24% had received measles vaccination within the previous 45 days (up to 45 days after vaccination an IgM+ result could be due to either vaccination or wild-type measles infection). The proportion of IgM+ results varied with clinical presentation, the timing of specimen collection and vaccination status. Positive results on RT-PCR occurred in specimens from eight IgM-negative and four IgM+ individuals who had recently been vaccinated. During measles outbreaks, limiting IgM testing to individuals who meet the clinical case definition and have not been recently vaccinated allows for measles to be confirmed while conserving resources.

Testicular hemorrhage, necrosis, and vasculopathy: likely manifestations of intermittent torsion that clinically mimic a neoplasm.

PubMed

Kao, Chia-Sui; Zhang, Chen; Ulbright, Thomas M

2014-01-01

We report 30 cases of testicular hemorrhage and/or necrosis with associated vascular damage that caused clinical concern for a neoplasm and that raised the question of a vasculitis syndrome on pathologic examination. The patients were 12 to 66 years old (median, 33 y) and presented with pain (n=15), mass (n=12), or both (n=2); 1 case had no available clinical information. Ultrasonographic interpretations included a neoplasm in the differential diagnoses in 14 of 18 cases in which this information was available, and most (n=24) had orchiectomy because of this possibility. Only 4 were clinically suspected to represent testicular infarction. Circumscribed, hemorrhagic lesions occurred in 10 cases, less demarcated hemorrhagic foci in 5, and discrete nodules or ill-defined foci of varying color and consistency in the remainder. No clear testicular lesion was described in 2, with 1 of these having a "dusky" appearance. On microscopic examination all but 1 case showed damaged blood vessels (vasculopathy), with either associated hemorrhage/hematoma (n=24) and/or areas of parenchymal necrosis (n=21). One case showed only segmental tubular atrophy with interstitial inflammation and vasculopathy; no infarct or hemorrhage was identified. A variety of vascular changes was identified, including prominent intimal thickening in arteries (n=22) and fibrinoid change in both arteries (n=5) and vessels of indeterminate type (n=8). Medial fibrosis was present in veins (n=12) and vessels of indeterminate type (n=4), whereas thrombi (remote, recanalized, and/or recent) occurred in arteries (n =7), veins (n=9), and vessels of indeterminate type (n=11). Dilated, blood-filled vessels were present in the testis and/or paratestis in 15 cases. In addition, 7 cases showed arteriolar hyalinization, and 19 had inflammation of blood vessels. The latter was lymphohistiocytic and mostly light but occasionally prominent (n=5). Interstitial inflammation was seen adjacent to damaged testicular parenchyma in all 30 cases. Clinical follow-up in 20 patients (4 to 131 mo, mean 38 mo) showed no evidence of recurrence in the contralateral testis or later development of systemic vasculitis. The histologic findings were compared with those in 11 orchiectomies resected for clinical acute torsion. All clinical acute torsion cases showed both parenchymal and fibrinoid vascular necrosis, and 10 had hemorrhage/hematoma; they lacked vasculitis, interstitial inflammation, and chronic vascular changes. Testicular vasculopathy, characterized by acute and chronic vascular injury, commonly occurs in testes with parenchymal hemorrhage and necrosis that clinically mimic a tumor. It shares the acute features of recent torsion but also has findings indicative of chronic injury. Testicular vasculopathy is most likely a result of chronic intermittent torsion that leads to localized hemorrhage/necrosis and should be distinguished from cases of systemic vasculitis given the significantly different clinical implications.

Familial Polythelia associated with dental anomalies: a case report

PubMed Central

Cantín, Mario

2014-01-01

Polythelia has been defined as the presence of supernumerary nipples without accessory glandular tissue. Usually, these growths follow imaginary mammary lines running from the armpits to the groin. Although the presence of dental anomalies may occasion only a simple cosmetic problem with specific clinical considerations, the association with familial polythelia has been scarcely reported. This paper reports on a case of polythelia that is associated with dental anomalies in an Argentine family and discusses suggestions for a thorough dental history and medical consultation to prevent possible pathological conditions or potential malignant transformation of mammary tissues. PMID:24970959

Familial polythelia associated with dental anomalies: a case report.

PubMed

Fonseca, Gabriel M; Cantín, Mario

2014-01-01

Polythelia has been defined as the presence of supernumerary nipples without accessory glandular tissue. Usually, these growths follow imaginary mammary lines running from the armpits to the groin. Although the presence of dental anomalies may occasion only a simple cosmetic problem with specific clinical considerations, the association with familial polythelia has been scarcely reported. This paper reports on a case of polythelia that is associated with dental anomalies in an Argentine family and discusses suggestions for a thorough dental history and medical consultation to prevent possible pathological conditions or potential malignant transformation of mammary tissues.

Human cutaneous protothecosis: report of a case and literature review.

PubMed

Seok, Jae Yeon; Lee, Yoonho; Lee, Hyukmin; Yi, Sang Yeop; Oh, Hwa Eun; Song, Ji-Sun

2013-12-01

The Prototheca species is achlorophyllic algae and rarely causes human infection. Human protothecosis presents clinically as a cutaneous infection, olecranon bursitis, and disseminated systemic disease. We report a case of human cutaneous protothecosis involving the left wrist. A 68-year-old man presented with an ill-defined erythematous lesion with crust at the dorsal aspect of his left wrist. A punch biopsy was performed to reveal the histologic features of granulomatous inflammation with necrosis at the upper dermis, containing Prototheca organisms, of which, the characteristic features were highlighted by special staining. Through a molecular study, the Prototheca zopfii species was identified.

Recurrent Hyperammonemia After Abernethy Malformation Type 2 Closure: a Case Report.

PubMed

Li, Hui; Ma, Zhi; Xie, Ying; Tian, Feng

The Abernethy malformation is a rare congenital malformation defined by the presence of an extrahepatic portosystemic shunt. Although most patients are asymptomatic, clinical encephalopathy is present in 15% of cases. We present a patient with type 2 Abernethy malformation, hyperammonemia, and encephalopathy. Shunt closure was performed successfully using interventional angiography; however, hyperammonemia recurred 3 months later. The diagnosis of Abernethy malformation can be made easily, but the ideal patient management strategy has not yet been established. This is the first reported patient with recurrence of hyperammonemia after interventional treatment; we discuss the therapeutic options for Abernethy malformation.

Smile design: rules, tools and strategies to help plan aesthetic restorative dentistry.

PubMed

Holyoak, Matthew

2013-10-01

This article is intended to provide dentists with a framework to help in objectively assessing upper anterior aesthetic restorations. Not all of the areas discussed will be equally important in all cases, and a degree of subjectivity, based on clinical experience, is essential. There has been a huge increase in settlements in cases when aesthetic treatment has not led to patient satisfaction. The author hopes that this type of approach, in conjunction with good patient communication and detailed records, will minimise the potential for litigation, should problems arise. Success or failure is largely defined during the planning stage.

IT-CARES: an interactive tool for case-crossover analyses of electronic medical records for patient safety.

PubMed

Caron, Alexandre; Chazard, Emmanuel; Muller, Joris; Perichon, Renaud; Ferret, Laurie; Koutkias, Vassilis; Beuscart, Régis; Beuscart, Jean-Baptiste; Ficheur, Grégoire

2017-03-01

The significant risk of adverse events following medical procedures supports a clinical epidemiological approach based on the analyses of collections of electronic medical records. Data analytical tools might help clinical epidemiologists develop more appropriate case-crossover designs for monitoring patient safety. To develop and assess the methodological quality of an interactive tool for use by clinical epidemiologists to systematically design case-crossover analyses of large electronic medical records databases. We developed IT-CARES, an analytical tool implementing case-crossover design, to explore the association between exposures and outcomes. The exposures and outcomes are defined by clinical epidemiologists via lists of codes entered via a user interface screen. We tested IT-CARES on data from the French national inpatient stay database, which documents diagnoses and medical procedures for 170 million inpatient stays between 2007 and 2013. We compared the results of our analysis with reference data from the literature on thromboembolic risk after delivery and bleeding risk after total hip replacement. IT-CARES provides a user interface with 3 columns: (i) the outcome criteria in the left-hand column, (ii) the exposure criteria in the right-hand column, and (iii) the estimated risk (odds ratios, presented in both graphical and tabular formats) in the middle column. The estimated odds ratios were consistent with the reference literature data. IT-CARES may enhance patient safety by facilitating clinical epidemiological studies of adverse events following medical procedures. The tool's usability must be evaluated and improved in further research. © The Author 2016. Published by Oxford University Press on behalf of the American Medical Informatics Association.

A proteomic network approach across the ALS-FTD disease spectrum resolves clinical phenotypes and genetic vulnerability in human brain.

PubMed

Umoh, Mfon E; Dammer, Eric B; Dai, Jingting; Duong, Duc M; Lah, James J; Levey, Allan I; Gearing, Marla; Glass, Jonathan D; Seyfried, Nicholas T

2018-01-01

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are neurodegenerative diseases with overlap in clinical presentation, neuropathology, and genetic underpinnings. The molecular basis for the overlap of these disorders is not well established. We performed a comparative unbiased mass spectrometry-based proteomic analysis of frontal cortical tissues from postmortem cases clinically defined as ALS, FTD, ALS and FTD (ALS/FTD), and controls. We also included a subset of patients with the C9orf72 expansion mutation, the most common genetic cause of both ALS and FTD Our systems-level analysis of the brain proteome integrated both differential expression and co-expression approaches to assess the relationship of these differences to clinical and pathological phenotypes. Weighted co-expression network analysis revealed 15 modules of co-expressed proteins, eight of which were significantly different across the ALS-FTD disease spectrum. These included modules associated with RNA binding proteins, synaptic transmission, and inflammation with cell-type specificity that showed correlation with TDP-43 pathology and cognitive dysfunction. Modules were also examined for their overlap with TDP-43 protein-protein interactions, revealing one module enriched with RNA-binding proteins and other causal ALS genes that increased in FTD/ALS and FTD cases. A module enriched with astrocyte and microglia proteins was significantly increased in ALS cases carrying the C9orf72 mutation compared to sporadic ALS cases, suggesting that the genetic expansion is associated with inflammation in the brain even without clinical evidence of dementia. Together, these findings highlight the utility of integrative systems-level proteomic approaches to resolve clinical phenotypes and genetic mechanisms underlying the ALS-FTD disease spectrum in human brain. © 2017 The Authors. Published under the terms of the CC BY 4.0 license.

Considerations of study design.

PubMed

Koretz, Ronald L

2007-12-01

Research projects attempt to answer specific questions. The particular study design that is selected will depend in large measure on the nature of the question and the time and resources available. There are 5 common categories of clinical questions; they relate to etiology, prognosis, utility of diagnostic tests, efficacy of proposed interventions, and cost of treatment in specific disease states. A number of study designs can be used. Case reports serve to memorialize unusual or novel aspects of diseases. Retrospective case series are useful for defining natural history. Case-control studies are used by epidemiologists to elucidate potential etiologies of diseases. Prospective cohort studies can be used to assess natural history or to assess potential disease etiologies. Controlled trials are designed to assess the efficacy of therapeutic interventions. Studies that define the sensitivity and specificity of diagnostic tests can be used to assess the utility of those tests. Economic analyses estimate the costs that particular diseases or therapies will require. Each of these study designs has limitations; with the exception of high-quality randomized trials, none of these study designs can establish a causative relationship between putative etiologic (or therapeutic) factors and disease (outcomes).

Transcatheter Embolisation of Proximal Type 1 Endoleaks Following Endovascular Aneurysm Sealing (EVAS) Using the Nellix Device: Technique and Outcomes

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

Ameli-Renani, S., E-mail: seyedameli@doctors.org.uk; Morgan, R. A., E-mail: Robert.morgan@stgeorges.nhs.uk

2015-10-15

AimTo evaluate the technical success and mid-term outcomes following transcatheter embolisation of type 1a endoleak after Nellix endovascular aneurysm sealing (EVAS).Materials and MethodsSeven patients (5 men; mean age 83; range 79–90) underwent transcatheter embolisation between July 2013 and August 2014. The average time from EVAS to embolisation was 136 days (range 6–301) and from endoleak diagnosis to embolisation was 20 days (range 2–50). Embolisation was performed with coils and Onyx in six cases and Onyx only in one case. Technical success, imaging and clinical outcomes of embolisation were reviewed. Technical success was defined as elimination of the endoleak on completion angiography and first imaging follow-up.more » Clinical success was defined as unchanged or decreased aneurysm sac size on subsequent follow-up (average 8 months; range 103–471 days).ResultsAll cases were technically successful. One patient required a second endovascular procedure following Onyx reflux into the Nellix endograft and another patient required surgical closure of a brachial puncture site. All patients are endoleak free with stable sac size on the latest available follow-up imaging.ConclusionIf a type 1 endoleak occurs after EVAS, embolisation using Onyx with or without coils is feasible and effective with high technical success and freedom from endoleak recurrence at mid-term follow-up.« less

Missing metastases as a model to challenge current therapeutic algorithms in colorectal liver metastases.

PubMed

Lucidi, Valerio; Hendlisz, Alain; Van Laethem, Jean-Luc; Donckier, Vincent

2016-04-21

In oncosurgical approach to colorectal liver metastases, surgery remains considered as the only potentially curative option, while chemotherapy alone represents a strictly palliative treatment. However, missing metastases, defined as metastases disappearing after chemotherapy, represent a unique model to evaluate the curative potential of chemotherapy and to challenge current therapeutic algorithms. We reviewed recent series on missing colorectal liver metastases to evaluate incidence of this phenomenon, predictive factors and rates of cure defined by complete pathologic response in resected missing metastases and sustained clinical response when they were left unresected. According to the progresses in the efficacy of chemotherapeutic regimen, the incidence of missing liver metastases regularly increases these last years. Main predictive factors are small tumor size, low marker level, duration of chemotherapy, and use of intra-arterial chemotherapy. Initial series showed low rates of complete pathologic response in resected missing metastases and high recurrence rates when unresected. However, recent reports describe complete pathologic responses and sustained clinical responses reaching 50%, suggesting that chemotherapy could be curative in some cases. Accordingly, in case of missing colorectal liver metastases, the classical recommendation to resect initial tumor sites might have become partially obsolete. Furthermore, the curative effect of chemotherapy in selected cases could lead to a change of paradigm in patients with unresectable liver-only metastases, using intensive first-line chemotherapy to intentionally induce missing metastases, followed by adjuvant surgery on remnant chemoresistant tumors and close surveillance of initial sites that have been left unresected.

Case definitions for inclusion and analysis of endpoints in clinical trials for nonalcoholic steatohepatitis through the lens of regulatory science.

PubMed

Siddiqui, Mohammad Shadab; Harrison, Stephen A; Abdelmalek, Manal F; Anstee, Quentin M; Bedossa, Pierre; Castera, Laurent; Dimick-Santos, Lara; Friedman, Scott L; Greene, Katherine; Kleiner, David E; Megnien, Sophie; Neuschwander-Tetri, Brent A; Ratziu, Vlad; Schabel, Elmer; Miller, Veronica; Sanyal, Arun J

2018-05-01

Nonalcoholic steatohepatitis (NASH) is an important cause of liver-related morbidity and mortality. There are no approved therapies, and the results of clinical trials have been difficult to compare due to inconsistent definitions of relevant disease parameters in patients with NASH. The natural course of the disease has not been rigorously characterized, particularly with respect to the contributions of underlying obesity, type 2 diabetes, and other comorbidities and the treatments provided for these comorbidities. Efforts to perform analyses of pooled data are limited by heterogeneous case definitions used across studies to define disease states. There remains a major unmet need in the field to develop standardized definitions for populations for interventional trials. Such definitions are expected to impact how endpoints for clinical trials are constructed. The Liver Forum is a multistakeholder effort including US and European regulatory agencies, academic investigators, professional and patient representative organizations, and industry to catalyze therapeutic development for NASH by developing potential solutions to barriers to development. The Case Definitions Working Group was established by The Liver Forum to evaluate the validity of case definitions for populations to be included in clinical trials for NASH from a regulatory science perspective. Based on such analyses, specific recommendations are provided noting the strengths and weaknesses of the case definitions along with knowledge gaps that require additional study. (Hepatology 2018;67:2001-2012). © 2017 The Authors. Hepatology published by Wiley Periodicals, Inc. on behalf of American Association for the Study of Liver Diseases.

Evaluation of pemphigus cases involving oral mucosa.

PubMed

Karagöz, Gizem; Bektaş-Kayhan, Kivanç; Ünür, Meral

2014-09-01

Pemphigus, defines a group of disorders in autoimmune etiology which could be life-threatening and clinical manifestations are mainly epithelial blistering affecting cutaneous and/or mucosal surfaces including oral mucosa. The aim of our study is to evaluate the clinical appearance of pemphigus with oral involvement by reported 15 pemphigus cases. This retrospective study of 15 cases of pemphigus obtained over a period of 7 years from 2006 to 2013 in Istanbul University, Dentistry Faculty, Oral Medicine and Surgery Department was designed. Age distribution of pemphigus was from 15 to 59 years with an average age of 41.3 years. Of the 15 patients, the male:female ratio was 1:2.75 (4 male, 11 female). The most common clinical various of pemphigus was pemphigus vulgaris, diagnosed in all patients. The buccal mucosa (34.3%) was the most commonly affected site followed by tongue (20%), gingiva (17.1%), palate (11.4%), lips (11.4%) and floor of mouth (5.7%). Our explanation of this conclusion, while speculative, is that socioeconomic situation related stress in males and hormonal changes like pregnancy and menostasis in females; systemic disease and using drugs; dental trauma and bruxism could be responsible for flare up in the disease.

Meta-analysis of screening and case finding tools for depression in cancer: evidence based recommendations for clinical practice on behalf of the Depression in Cancer Care consensus group.

PubMed

Mitchell, Alex J; Meader, Nick; Davies, Evan; Clover, Kerrie; Carter, Gregory L; Loscalzo, Matthew J; Linden, Wolfgang; Grassi, Luigi; Johansen, Christoffer; Carlson, Linda E; Zabora, James

2012-10-01

To examine the validity of screening and case-finding tools used in the identification of depression as defined by an ICD10/DSM-IV criterion standard. We identified 63 studies involving 19 tools (in 33 publications) designed to help clinicians identify depression in cancer settings. We used a standardized rating system. We excluded 11 tools without at least two independent studies, leaving 8 tools for comparison. Across all cancer stages there were 56 diagnostic validity studies (n=10,009). For case-finding, one stem question, two stem questions and the BDI-II all had level 2 evidence (2a, 2b and 2c respectively) and given their better acceptability we gave the stem questions a grade B recommendation. For screening, two stem questions had level 1b evidence (with high acceptability) and the BDI-II had level 2c evidence. For every 100 people screened in advanced cancer, the two questions would accurately detect 18 cases, while missing only 1 and correctly reassure 74 with 7 falsely identified. For every 100 people screened in non-palliative settings the BDI-II would accurately detect 17 cases, missing 2 and correctly re-assure 70, with 11 falsely identified as cases. The main cautions are the reliance on DSM-IV definitions of major depression, the large number of small studies and the paucity of data for many tools in specific settings. Although no single tool could be offered unqualified support, several tools are likely to improve upon unassisted clinical recognition. In clinical practice, all tools should form part of an integrated approach involving further follow-up, clinical assessment and evidence based therapy. Copyright © 2012 Elsevier B.V. All rights reserved.

Modelling Conditions and Health Care Processes in Electronic Health Records: An Application to Severe Mental Illness with the Clinical Practice Research Datalink.

PubMed

Olier, Ivan; Springate, David A; Ashcroft, Darren M; Doran, Tim; Reeves, David; Planner, Claire; Reilly, Siobhan; Kontopantelis, Evangelos

2016-01-01

The use of Electronic Health Records databases for medical research has become mainstream. In the UK, increasing use of Primary Care Databases is largely driven by almost complete computerisation and uniform standards within the National Health Service. Electronic Health Records research often begins with the development of a list of clinical codes with which to identify cases with a specific condition. We present a methodology and accompanying Stata and R commands (pcdsearch/Rpcdsearch) to help researchers in this task. We present severe mental illness as an example. We used the Clinical Practice Research Datalink, a UK Primary Care Database in which clinical information is largely organised using Read codes, a hierarchical clinical coding system. Pcdsearch is used to identify potentially relevant clinical codes and/or product codes from word-stubs and code-stubs suggested by clinicians. The returned code-lists are reviewed and codes relevant to the condition of interest are selected. The final code-list is then used to identify patients. We identified 270 Read codes linked to SMI and used them to identify cases in the database. We observed that our approach identified cases that would have been missed with a simpler approach using SMI registers defined within the UK Quality and Outcomes Framework. We described a framework for researchers of Electronic Health Records databases, for identifying patients with a particular condition or matching certain clinical criteria. The method is invariant to coding system or database and can be used with SNOMED CT, ICD or other medical classification code-lists.

Hepatitis B Virus Reactivation Associated With Direct-Acting Antiviral Therapy for Chronic Hepatitis C Virus: A Review of Cases Reported to the U.S. Food and Drug Administration Adverse Event Reporting System.

PubMed

Bersoff-Matcha, Susan J; Cao, Kelly; Jason, Mihaela; Ajao, Adebola; Jones, S Christopher; Meyer, Tamra; Brinker, Allen

2017-06-06

Direct-acting antiviral agents (DAAs) are used increasingly to treat hepatitis C virus (HCV) infection. Reports were published recently on hepatitis B virus (HBV) reactivation (HBV-R) in patients with HBV-HCV co-infection. Hepatitis B virus reactivation, defined as an abrupt increase in HBV replication in patients with inactive or resolved HBV infection, may result in clinically significant hepatitis. To assess whether HBV-R is a safety concern in patients receiving HCV DAAs. Descriptive case series. U.S. Food and Drug Administration (FDA) Adverse Event Reporting System (FAERS). 29 patients with HBV-R receiving HCV DAAs. Clinical and laboratory data. The FDA identified 29 unique reports of HBV-R in patients receiving DAAs from 22 November 2013 to 15 October 2016. Two cases resulted in death and 1 case in liver transplantation. Patients in whom HBV-R developed were heterogeneous regarding HCV genotype, DAAs received, and baseline HBV characteristics. At baseline, 9 patients had a detectable HBV viral load, 7 had positive results on hepatitis B surface antigen (HBsAg) testing and had an undetectable HBV viral load, and 3 had negative results on HBsAg testing and had an undetectable HBV viral load. For the remaining 10 patients, data points were not reported or the data were uninterpretable. Despite provider knowledge of baseline HBV, HBV-R diagnosis and treatment were delayed in 7 cases and possibly 7 others. The quality of information varied among reports. Because reporting is voluntary, HBV-R associated with DAAs likely is underreported. Hepatitis B virus reactivation is a newly identified safety concern in patients with HBV-HCV co-infection treated with DAAs. Patients with a history of HBV require clinical monitoring while receiving DAA therapy. Studies would help determine the risk factors for HBV-R, define monitoring frequency, and identify patients who may benefit from HBV prophylaxis and treatment. DAAs remain a safe and highly effective treatment for the management of HCV infection. None.

What is the definition of intraoperative hypotension in dogs? Results from a survey of diplomates of the ACVAA and ECVAA.

PubMed

Ruffato, Marco; Novello, Lorenzo; Clark, Louise

2015-01-01

Determine arterial blood pressure range that diplomates of the American College of Veterinary Anesthesia and Analgesia (ACVAA) and European College of Veterinary Anaesthesia and Analgesia (ECVAA) use to define intraoperative hypotension in dogs and identify the threshold values used for intervention. Survey of veterinary anesthesia specialists. Diplomates of the ACVAA and ECVAA. ACVAA and ECVAA diplomates (n = 313) were invited to participate in an Internet-based survey regarding anesthetized healthy dogs undergoing two types of procedures (diagnostic or surgical). There were 151 respondents to the survey; 70.2% were ACVAA diplomates and 29.8% were ECVAA diplomates. The majority of the respondents (70.9%) worked in academia while the others were in private practice (19.2%), or research, diagnostic or pharmaceutical fields (9.9%). Hypotension was defined (mean ± SD) by the respondents as systolic arterial blood pressure (SAP) <87 ± 8 mmHg for surgical cases and <87 ± 6 mmHg for diagnostic cases, or mean arterial pressure (MAP) <62 ± 4 mmHg for both types of cases. Arterial pressures reported to prompt treatment were SAP 85 ± 13 mmHg or MAP 61 ± 4 mmHg in surgical cases, and SAP 84 ± 11 mmHg or MAP 63 ± 8 mmHg in diagnostic cases. There was agreement between ACVAA and ECVAA diplomates on the definition of intraoperative hypotension in dogs during anesthesia. The blood pressures used to define hypotension were similar to the pressures that would prompt diplomates to start treatment. Readers could infer that diplomates define hypotension as a clinical condition that requires treatment at the time of diagnosis. © 2014 Association of Veterinary Anaesthetists and the American College of Veterinary Anesthesia and Analgesia.

Dynamic Failure of Materials. Volume 1 - Experiments and Analyses

DTIC Science & Technology

1998-11-01

initial increments of voids do not lead to substantial relaxation of stress. In this case, the condition (8.1) gives Vv = Ao- aVv * ß=— (8.10) pc...enough strain steps to define the process accurately. At each strain step, a combined Newton-Raphson and regulafalsi solution technique (multiple trials ...laser surgery. Clinical studies have demonstrated that, for some applications, surgical lasers are superior to conventional surgical procedures

Factitious disease: clinical lessons from case studies at Baylor University Medical Center

PubMed Central

Savino, Adria C.; Fordtran, John S.

2006-01-01

Factitious disease is defined as the intentional production (or feigning) of disease in oneself to relieve emotional distress by assuming the role of a sick person. Although the self-induction of disease is a conscious act, the underlying motivation is usually unconscious. It has been estimated that 3% to 5% of physician-patient encounters involve factitious disease. This article presents 6 case studies from Baylor University Medical Center that highlight various clinical aspects of factitious disease. Patients with factitious diseases are extremely difficult to recognize because they do not appear different from patients with authentic causes of similar symptoms, because their psychiatric abnormalities are not appreciated, and because doctors and nurses have alowindex of suspicion. Since patients with factitious disease present a false medicalhistory, their physicians prescribe unnecessary procedures and therapies that may result in iatrogenic disease. In many cases, damage to these patients from doctors' actions exceeds the harm resulting from the patients' self-induced illness. The clues that should suggest factitious disease, the diagnostic roles of the clinician and a consulting psychiatrist, and the ethical conflicts that confront doctors taking care of such patients are discussed. To help keep factitious disease in clinical perspective, one of the case studies involves the antithesis of factitious disease, where a patient was mistakenly diagnosed as having psychogenic pain when in fact the symptoms were caused by an overlooked physical disease. Better knowledge of the clinical features of factitious disease might have prevented the disastrous outcome. PMID:17252033

Pregnancy-associated listeriosis in England and Wales.

PubMed

Awofisayo, A; Amar, C; Ruggles, R; Elson, R; Adak, G K; Mook, P; Grant, K A

2015-01-01

Listeriosis is a rare but severe foodborne disease with low morbidity and high case-fatality rates. Pregnant women, unborn and newborn babies are among the high-risk groups for listeriosis. We examined listeriosis cases reported to the enhanced surveillance system in England and Wales from 1990 to 2010 to identify risk factors influencing outcome. Cases were defined as pregnancy-associated if Listeria monocytogenes was isolated from a pregnant woman or newborn infants aged <28 days. Of the 3088 cases reported, pregnancy-associated listeriosis accounted for 462 (15%) cases and 315 cases resulted in a live birth. Several factors were identified as affecting the severity and outcome of listeriosis in pregnancy in both mother and child including: presence or absence of maternal symptoms, gestational age at onset of symptoms, and clinical presentation in the infant (meningitis or septicaemia). Deprivation, ethnicity and molecular serotype had no effect on outcome.

Limb length inequality: clinical implications for assessment and intervention.

PubMed

Brady, Rebecca J; Dean, John B; Skinner, T Marc; Gross, Michael T

2003-05-01

The purpose of this paper is to review relevant literature concerning limb length inequalities in adults and to make recommendations for assessment and intervention based on the literature and our own clinical experience. Literature searches were conducted in the MEDLINE, PubMed, and CINAHL databases. Limb length inequality and common classification criteria are defined and etiological factors are presented. Common methods of detecting limb length inequality include direct (tape measure methods), indirect (pelvic leveling), and radiological techniques. Interventions include shoe inserts or external shoe lift therapy for mild cases. Surgery may be appropriate in severe cases. Little agreement exists regarding the prevalence of limb length inequality, the degree of limb length inequality that is considered clinically significant, and the reliability and validity of assessment methods. Based on correlational studies, the relationship between limb length inequality and orthopaedic pathologies is questionable. Stronger support for the link between low back pain (LBP) and limb length inequality is provided by intervention studies. Methods involving palpation of pelvic landmarks with block correction have the most support for clinical assessment of limb length inequality. Standing radiographs are suggested when clinical assessment methods are unsatisfactory. Clinicians should exercise caution when undertaking intervention strategies for limb length inequality of less than 5 mm when limb length inequality has been identified with clinical techniques. Recommendations are provided regarding intervention strategies.

Lymphatic filariasis: patients and the global elimination programme.

PubMed

Mackenzie, C D; Lazarus, W M; Mwakitalu, M E; Mwingira, U; Malecela, M N

2009-10-01

The defining images of lymphatic filariasis are the horrendous disfigurements of lymphoedema, elephantiasis and hydrocele. These clinical presentations, although obviously important and life changing, are not, however, the only outcomes of this wide-spread filarial infection. The other effects of the disease range from severe, acute but short-term bouts of sickness to psychological impairment, poverty and family hardship. It is important to support cases of the disease through all means available, such as reparative hydrocelectomy, hygiene training and facilitation, and the provision of adequate chemotherapy. Although only a minority of the residents in any endemic community is affected with the severe clinical manifestations of this parasitic infection, these cases are central to, and important advocates for, the current global effort to eliminate the infection through mass drug administrations (MDA). Their clinical improvement acts as an important catalyst for the general population and encourages high compliance in the MDA. This communication discusses the central role that filariasis patients have played in the Tanzania Lymphatic Filariasis Elimination Programme to date, and covers some of the clinical successes achieved in the past 10 years. The abolition of the clinical manifestations of filarial infection remains the ultimate goal of the Global Programme to Eliminate Lymphatic Filariasis, and maintaining a focus on the affected individuals and their clinical condition is vital to that programme's overall success.

Quantitative appraisal of the Amyloid Imaging Taskforce appropriate use criteria for amyloid-PET.

PubMed

Altomare, Daniele; Ferrari, Clarissa; Festari, Cristina; Guerra, Ugo Paolo; Muscio, Cristina; Padovani, Alessandro; Frisoni, Giovanni B; Boccardi, Marina

2018-04-18

We test the hypothesis that amyloid-PET prescriptions, considered appropriate based on the Amyloid Imaging Taskforce (AIT) criteria, lead to greater clinical utility than AIT-inappropriate prescriptions. We compared the clinical utility between patients who underwent amyloid-PET appropriately or inappropriately and among the subgroups of patients defined by the AIT criteria. Finally, we performed logistic regressions to identify variables associated with clinical utility. We identified 171 AIT-appropriate and 67 AIT-inappropriate patients. AIT-appropriate and AIT-inappropriate cases did not differ in any outcomes of clinical utility (P > .05). Subgroup analysis denoted both expected and unexpected results. The logistic regressions outlined the primary role of clinical picture and clinical or neuropsychological profile in identifying patients benefitting from amyloid-PET. Contrary to our hypothesis, also AIT-inappropriate prescriptions were associated with clinical utility. Clinical or neuropsychological variables, not taken into account by the AIT criteria, may help further refine criteria for appropriateness. Copyright © 2018. Published by Elsevier Inc.

Investigation of elevated case-fatality rate in poliomyelitis outbreak in Pointe Noire, Republic of Congo, 2010.

PubMed

Gregory, Christopher J; Ndiaye, Serigne; Patel, Minal; Hakizamana, Elisaphan; Wannemuehler, Kathleen; Ndinga, Edouard; Chu, Susan; Talani, Pascal; Kretsinger, Katrina

2012-11-15

Multiple cases of paralysis, often resulting in death, occurred among young adults during a wild poliovirus (WPV) type 1 outbreak in Pointe Noire, Republic of Congo, in 2010. We conducted an investigation to identify factors associated with fatal outcomes among persons with poliomyelitis in Pointe Noire. Polio cases were defined as acute flaccid paralysis (AFP) cases reported from 7 October to 7 December 2010 with either a stool specimen positive for WPV or clinically classified as polio-compatible. Data were obtained from medical records, hospital databases, AFP case investigation forms and, when possible, via interviews with persons with polio or surrogates using a standard questionnaire. A total of 369 polio cases occurred in Pointe Noire between 7 October and 7 December 2010. Median age was 22 years for nonsurvivors and 18 years for survivors (P = .01). Small home size, as defined by ≤2 rooms, use of a well for drinking water during a water shortage, and age ≥15 years were risk factors for death in multivariate analysis. Consideration should be given during polio risk assessment planning and outbreak response to water/sanitation status and potential susceptibility to polio in older children and adults. Serosurveys to estimate immunity gaps in older age groups in countries at high risk of polio importation might be useful to guide preparedness and response planning.

Diagnostic profile and suicide risk in schizophrenia spectrum disorder.

PubMed

Reutfors, Johan; Bahmanyar, Shahram; Jönsson, Erik G; Ekbom, Anders; Nordström, Peter; Brandt, Lena; Ösby, Urban

2010-11-01

Earlier studies of patients with schizophrenia have investigated suicide risk in relation to specific psychiatric symptoms, but it remains to be better understood how suicide risk relates to the diagnostic profile in these patients. We identified all patients with a first clinical ICD-diagnosis of schizophrenia, schizophreniform or schizoaffective disorder in Stockholm County between 1984 and 2000. Patients who died by suicide within five years from diagnosis were defined as cases (n=84) and were individually matched with a similar number of living controls from the same population. Sociodemographic and clinical variables were retrieved from hospital records through a blind process. DSM-IV lifetime diagnoses for cases and controls were derived using the OPCRIT algorithm. A schizophrenia spectrum diagnosis (i.e. schizophrenia, schizophreniform or schizoaffective disorder) was assigned by OPCRIT to 50% of the suicide cases and 62% of the controls. Criteria for schizophrenia were met by 41% of the cases and 51% of the controls; for schizoaffective disorder by 8% of the cases and 10% of the controls; for other psychosis by 23% of the cases and 25% of the controls; and for mood disorder by 26% of the cases and 12% of the controls. Using the schizophrenia diagnosis as a reference, suicide risk was significantly higher in patients meeting criteria for a mood disorder diagnosis with an adjusted odds ratio of 3.3 (95% CI 1.2-9.0). In patients with a clinical schizophrenia spectrum diagnosis, a DSM-IV mood disorder diagnosis increases the suicide risk more than three-fold. Copyright © 2010 Elsevier B.V. All rights reserved.

Clinical predictors of facial nerve outcome after translabyrinthine resection of acoustic neuromas.

PubMed

Shamji, Mohammed F; Schramm, David R; Benoit, Brien G

2007-01-01

The translabyrinthine approach to acoustic neuroma resection offers excellent exposure for facial nerve dissection with 95% preservation of anatomic continuity. Acceptable outcome in facial asymptomatic patients is reported at 64-90%, but transient postoperative deterioration often occurs. The objective of this study was to identify preoperative clinical presentation and intraoperative surgical findings that predispose patients to facial nerve dysfunction after acoustic neuroma surgery. The charts of 128 consecutive translabyrinthine patients were examined retrospectively to identify new clinical and intraoperative predictors of facial nerve outcome. Postoperative evaluation of patients to normal function or mild asymmetry upon close inspection (House-Brackmann grades of I or II) was defined as an acceptable outcome, with obvious asymmetry to no movement (grades III to VI) defined as unacceptable. Intraoperative nerve stimulation was performed in all cases, and clinical grading was performed by a single neurosurgeon in all cases. Among patients with no preoperative facial nerve deficit, 87% had an acceptable result. Small size (P < 0.01) and low intraoperative nerve stimulation of < 0.10 mA (P< 0.01) were reaffirmed as predictive of functional nerve preservation. Additionally, preoperative tinnitus (P = 0.03), short duration of hearing loss (P< 0. 01), and lack of subjective tumour adherence to the facial nerve (P = 0.02) were independently correlated with positive outcome. Our experience with the translabyrinthine approach reveals the previously unestablished associations of facial nerve outcome to include presence of tinnitus and duration of hypoacusis. Independent predictors of tumour size and nerve stimulation thresholds were reaffirmed, and the subjective description of tumour adherence to the facial nerve making dissection more difficult appears to be important.

Architecture design of a generic centralized adjudication module integrated in a web-based clinical trial management system.

PubMed

Zhao, Wenle; Pauls, Keith

2016-04-01

Centralized outcome adjudication has been used widely in multicenter clinical trials in order to prevent potential biases and to reduce variations in important safety and efficacy outcome assessments. Adjudication procedures could vary significantly among different studies. In practice, the coordination of outcome adjudication procedures in many multicenter clinical trials remains as a manual process with low efficiency and high risk of delay. Motivated by the demands from two large clinical trial networks, a generic outcome adjudication module has been developed by the network's data management center within a homegrown clinical trial management system. In this article, the system design strategy and database structure are presented. A generic database model was created to transfer different adjudication procedures into a unified set of sequential adjudication steps. Each adjudication step was defined by one activate condition, one lock condition, one to five categorical data items to capture adjudication results, and one free text field for general comments. Based on this model, a generic outcome adjudication user interface and a generic data processing program were developed within a homegrown clinical trial management system to provide automated coordination of outcome adjudication. By the end of 2014, this generic outcome adjudication module had been implemented in 10 multicenter trials. A total of 29 adjudication procedures were defined with the number of adjudication steps varying from 1 to 7. The implementation of a new adjudication procedure in this generic module took an experienced programmer 1 or 2 days. A total of 7336 outcome events had been adjudicated and 16,235 adjudication step activities had been recorded. In a multicenter trial, 1144 safety outcome event submissions went through a three-step adjudication procedure and reported a median of 3.95 days from safety event case report form submission to adjudication completion. In another trial, 277 clinical outcome events were adjudicated by a six-step procedure and took a median of 23.84 days from outcome event case report form submission to adjudication procedure completion. A generic outcome adjudication module integrated in the clinical trial management system made the automated coordination of efficacy and safety outcome adjudication a reality. © The Author(s) 2015.

Benign and Malignant Proliferative Fibro-osseous and Osseous Lesions of the Oral Cavity of Dogs.

PubMed

Soltero-Rivera, M; Engiles, J B; Reiter, A M; Reetz, J; Lewis, J R; Sánchez, M D

2015-09-01

Ossifying fibroma (OF) and fibrous dysplasia (FD) are benign, intraosseous, proliferative fibro-osseous lesions (PFOLs) characterized by replacement of normal bone by a fibrous matrix with various degrees of mineralization and ossification. Osteomas are benign tumors composed of mature, well-differentiated bone. Clinical, imaging, and histologic features of 15 initially diagnosed benign PFOLs and osteomas of the canine oral cavity were evaluated. Final diagnoses after reevaluation were as follows: OF (3 cases), FD (4 cases), low-grade osteosarcoma (LG-OSA) (3 cases), and osteoma (5 cases). Histology alone often did not result in a definitive diagnosis for PFOL. OF appeared as a well-circumscribed, radiopaque mass with some degree of bone lysis on imaging. Most lesions of FD showed soft tissue opacity with bone lysis and ill-defined margins. Low-grade OSA appeared as a lytic lesion with a mixed opacity and ill-defined margins. Osteomas were characterized by a mineralized, expansile, well-circumscribed lesion. Although histologic features of PFOLs were typically bland, the lesions diagnosed as LG-OSA had some features of malignancy (eg, bone invasion or a higher mitotic index). Treatment varied widely. Of the 10 dogs with benign PFOL or osteoma with known outcome (10/12), 9 showed either complete response (6/10) or stable disease (3/10) after treatment. Of the 2 dogs with LG-OSA with known outcome, 1 showed complete response after curative intent surgery, but 1 patient had recurrence after partial maxillectomy. Definitive diagnosis of mandibular/maxillary PFOL is challenging via histopathologic examination alone, and accurate diagnosis is best achieved through assimilation of clinical, imaging, and histopathologic features. © The Author(s) 2015.

Late presentation to HIV testing is overestimated when based on the consensus definition.

PubMed

Sasse, A; Florence, E; Pharris, A; De Wit, S; Lacor, P; Van Beckhoven, D; Deblonde, J; Delforge, M-L; Fransen, K; Goffard, J-C; Legrand, J-C; Moutschen, M; Piérard, D; Ruelle, J; Vaira, D; Vandercam, B; Van Ranst, M; Van Wijngaerden, E; Vandekerckhove, L; Verhofstede, C

2016-03-01

In 2011, a consensus was reached defining "late presenters" (LPs) as individuals presenting for care with a CD4 count < 350 cells/μL or with an AIDS-defining event, regardless of CD4 count. However, a transient low CD4 count is not uncommon in recent infections. The objective of this study was to investigate how measurements of late presentation change if the clinical stage at the time of diagnosis is taken into account. Case surveillance data for newly diagnosed patients in Belgium in 1998-2012 were analysed, including CD4 count at diagnosis, the presence of AIDS-defining events, and recent infections (< 6 months) as reported by clinicians in the case of acute illness or a recent negative test. First, proportions of LPs were calculated according to the consensus definition. Secondly, LPs were reclassified as "nonlate" if infections were reported as recent. A total of 7949 HIV diagnoses were included in the study. Recent infections were increasingly reported over time, accounting for 8.2% of new infections in 1998 and 37.5% in 2012. The consideration of clinical stage significantly modified the proportion of LPs: 18.2% of men who have sex with men (MSM) diagnosed in 2012 would be classified as LPs instead of 30.9% using the consensus definition (P < 0.001). The proportion of patients misclassified as LPs increased significantly over time: 5% in MSM in 1998 vs. 41% in 2012. This study suggests that low CD4 counts in recent infections may lead to overestimation of late presentation when applying the consensus definition. The impact of transient CD4 count on late presentation estimates should be assessed and, if relevant, the introduction of clinical stage in the definition of late presentation should be considered. © 2015 British HIV Association.

Lymphoscintigraphy defines new lymphatic pathways from cutaneous melanoma site: clinical implications and surgical management.

PubMed

Marone, Ugo; Aloj, Luigi; Di Monta, Gianluca; Caracò, Corrado

2011-01-01

Sentinel lymph node biopsy is commonly applied as staging procedure of regional lymph nodes in patients with cutaneous melanoma. Dynamic lymphoscintigraphy defines the lymphatic pathways from a primary melanoma site and allows to identify the node receiving lymphatic drainage from the primary tumor, which is the sentinel lymph node. In rare cases, lymphoscintigraphy shows sites of lymphatic drainage in nonclassical basins never described in the past when lymphatic drainage was considered only according to the anatomical proximity of the tumor primary site. These peculiar sentinel nodes, so-called "uncommon/interval" nodes, must be surgically removed because they may contain micrometastatic disease and may be the only site of nodal involvement.

Lymphoscintigraphy Defines New Lymphatic Pathways from Cutaneous Melanoma Site: Clinical Implications and Surgical Management

PubMed Central

Marone, Ugo; Aloj, Luigi; Di Monta, Gianluca; Caracò, Corrado

2011-01-01

Sentinel lymph node biopsy is commonly applied as staging procedure of regional lymph nodes in patients with cutaneous melanoma. Dynamic lymphoscintigraphy defines the lymphatic pathways from a primary melanoma site and allows to identify the node receiving lymphatic drainage from the primary tumor, which is the sentinel lymph node. In rare cases, lymphoscintigraphy shows sites of lymphatic drainage in nonclassical basins never described in the past when lymphatic drainage was considered only according to the anatomical proximity of the tumor primary site. These peculiar sentinel nodes, so-called “uncommon/interval” nodes, must be surgically removed because they may contain micrometastatic disease and may be the only site of nodal involvement. PMID:22242203

Reversible Lithium Neurotoxicity: Review of the Literature

PubMed Central

Netto, Ivan

2012-01-01

Objective: Lithium neurotoxicity may be reversible or irreversible. Reversible lithium neurotoxicity has been defined as cases of lithium neurotoxicity in which patients recovered without any permanent neurologic sequelae, even after 2 months of an episode of lithium toxicity. Cases of reversible lithium neurotoxicity differ in clinical presentation from those of irreversible lithium neurotoxicity and have important implications in clinical practice. This review aims to study the clinical presentation of cases of reversible lithium neurotoxicity. Data Sources: A comprehensive electronic search was conducted in the following databases: MEDLINE (PubMed), 1950 to November 2010; PsycINFO, 1967 to November 2010; and SCOPUS (EMBASE), 1950 to November 2010. MEDLINE and PsycINFO were searched by using the OvidSP interface. Study Selection: A combination of the following search terms was used: lithium AND adverse effects AND central nervous system OR neurologic manifestation. Publications cited include articles concerned with reversible lithium neurotoxicity. Data Extraction: The age, sex, clinical features, diagnostic categories, lithium doses, serum lithium levels, precipitating factors, and preventive measures of 52 cases of reversible lithium neurotoxicity were extracted. Data Synthesis: Among the 52 cases of reversible lithium neurotoxicity, patients ranged in age from 10 to 80 years and a greater number were female (P = .008). Most patients had affective disorders, schizoaffective disorders, and/or depression (P < .001) and presented mainly with acute organic brain syndrome. In most cases, the therapeutic serum lithium levels were less than or equal to 1.5 mEq/L (P < .001), and dosage regimens were less than 2,000 mg/day. Specific drug combinations with lithium, underlying brain pathology, abnormal tissue levels, specific diagnostic categories, and elderly populations were some of the precipitating factors reported for reversible lithium neurotoxicity. The preventive measures were also described. Conclusions: Reversible lithium neurotoxicity presents with a certain clinical profile and precipitating factors for which there are appropriate preventive measures. This recognition will help in early diagnosis and prompt treatment of lithium neurotoxicity. PMID:22690368

Primary ciliary dyskinesia: improving the diagnostic approach

PubMed Central

Leigh, Margaret W.; Zariwala, Maimoona A.; Knowles, Michael R.

2009-01-01

Purpose of review The diagnosis of primary ciliary dyskinesia (PCD) has relied on analysis of ciliary motility and ultrastructure; however, these tests are not readily available and have not been standardized. Consequently, the diagnosis of PCD may be delayed or missed or made incorrectly. This review outlines the potential utility of new diagnostic tests, including measurement of nasal nitric oxide (NO) production and systematic analysis for mutations in gene encoding ciliary proteins. Recent findings Clinical manifestations of PCD have been expanded to include neonatal respiratory distress and heterotaxy. Measurement of nasal NO has emerged as a useful screening test for PCD based on the very low levels in PCD (approximately 1/10 of normal values). Genetic testing is emerging for PCD and demonstrates extensive genetic heterogeneity. Some genes and gene mutations involved in PCD have been defined. Approximately one third of PCD cases have identifiable gene mutations in one of 6 different genes. An international effort is focused on defining PCD-causing defects in other genes. Summary The incorporation of nasal NO measurement as a screening test to define probable PCD cases and gene mutation analysis to make a definitive diagnosis of PCD should enhance diagnostic evaluation of PCD. PMID:19300264

Virtual patients design and its effect on clinical reasoning and student experience: a protocol for a randomised factorial multi-centre study.

PubMed

Bateman, James; Allen, Maggie E; Kidd, Jane; Parsons, Nick; Davies, David

2012-08-01

Virtual Patients (VPs) are web-based representations of realistic clinical cases. They are proposed as being an optimal method for teaching clinical reasoning skills. International standards exist which define precisely what constitutes a VP. There are multiple design possibilities for VPs, however there is little formal evidence to support individual design features. The purpose of this trial is to explore the effect of two different potentially important design features on clinical reasoning skills and the student experience. These are the branching case pathways (present or absent) and structured clinical reasoning feedback (present or absent). This is a multi-centre randomised 2 x 2 factorial design study evaluating two independent variables of VP design, branching (present or absent), and structured clinical reasoning feedback (present or absent).The study will be carried out in medical student volunteers in one year group from three university medical schools in the United Kingdom, Warwick, Keele and Birmingham. There are four core musculoskeletal topics. Each case can be designed in four different ways, equating to 16 VPs required for the research. Students will be randomised to four groups, completing the four VP topics in the same order, but with each group exposed to a different VP design sequentially. All students will be exposed to the four designs. Primary outcomes are performance for each case design in a standardized fifteen item clinical reasoning assessment, integrated into each VP, which is identical for each topic. Additionally a 15-item self-reported evaluation is completed for each VP, based on a widely used EViP tool. Student patterns of use of the VPs will be recorded.In one centre, formative clinical and examination performance will be recorded, along with a self reported pre and post-intervention reasoning score, the DTI. Our power calculations indicate a sample size of 112 is required for both primary outcomes. This trial will provide robust evidence to support the effectiveness of different designs of virtual patients, based on student performance and evaluation. The cases and all learning materials will be open access and available on a Creative Commons Attribution-Share-Alike license.

Clinical impression and ascites appearance do not rule out bacterial peritonitis.

PubMed

Chinnock, Brian; Hendey, Gregory W; Minnigan, Hal; Butler, Jack; Afarian, Hagop

2013-05-01

Previous research has demonstrated that physician clinical suspicion, determined without assessing fluid appearance, is not adequate to rule out spontaneous bacterial peritonitis (SBP) without fluid testing. To determine the sensitivity of physician clinical suspicion, including a bedside assessment of fluid appearance, in the detection of SBP in Emergency Department (ED) patients undergoing paracentesis. We conducted a prospective, observational study of ED patients with ascites undergoing paracentesis at three academic facilities. The enrolling physician recorded the clinical suspicion of SBP ("none," "low," "moderate," or "high"), and ascites appearance ("clear," "hazy," "cloudy," or "bloody"). SBP was defined as an absolute neutrophil count ≥ 250 cells/mm(3), or culture pathogen growth. We defined "clear" ascites fluid as negative for SBP, and "hazy," "cloudy," or "bloody" as positive. A physician clinical suspicion of "none" or "low" was considered negative for SBP, and an assessment of "moderate" or "high" was considered positive. The primary outcome measure was sensitivity of physician clinical impression and ascites appearance for SBP. There were 348 cases enrolled, with SBP diagnosed in 43 (12%). Physician clinical suspicion had a sensitivity of 42% (95% confidence interval [CI] 29-55%) for the detection of SBP. Fluid appearance had a sensitivity of 72% (95% CI 58-83%). Physician clinical impression, which included an assessment of fluid appearance, had poor sensitivity for the detection of SBP and cannot be used to exclude the diagnosis. Routine laboratory fluid analysis is indicated after ED paracentesis, even in patients considered to have a low degree of suspicion for SBP. Copyright © 2013 Elsevier Inc. All rights reserved.

Screening Household Members of Acute Brucellosis Cases in Endemic Areas and Risk Factors for Brucellosis.

PubMed

Deniz, Secil; Baykam, Nurcan; Celikbas, Aysel; Yilmaz, Sirin Menekse; Guzel, Tugba Cirkin; Dokuzoguz, Basak; Ergonul, Onder

2015-08-01

Early diagnosis and treatment of acute brucellosis cases were targeted by screening the household members of the index cases. We also aimed to describe the causal relations of brucellosis in an endemic region. A cross-sectional study was performed among household members (29 index cases, 113 household members). Brucellosis was diagnosed on the basis of clinical findings, serum agglutinin titer of ≥1/160 in standard tube agglutination test (STA), or a positive blood culture. Index cases were defined as patients who had been admitted to the clinic on suspicion of brucellosis and then confirmed as brucellosis cases. The people who lived in the same house as the index cases were defined as household members. The risk factors for seropositivity were studied by multivariate analysis. Independent variables of gender, consuming fresh cheese, blood groups, dealing with husbandry, and contact with the placenta of infected animals were included to the model. Backward and forward selections were performed. Nineteen out of 113 (17%) screened individuals had agglutination titers ≥1/160. The mean ages of index cases and household members were 43 years (standard deviation [SD] 18) and 29 years (SD 19), respectively. In multivariate analysis, consuming fresh cheese (odds ratio [OR]=3.1, confidence interval [CI] 1.07-9.68, p=0.049), blood group A (OR=2.6, CI 1.18-5.96, p=0.018), contact with the placenta of the infected animals (OR=3.7, CI 1.42-9.68, p=0.007), and age >30 years (OR=2.8, CI 1.25-6.51, p=0.13) were found to be associated with brucellosis. In univariate analysis, the individuals with blood group B were protected from brucella infection (p=0.013). In conclusion, screening of the people in brucellosis-endemic areas should be considered for early diagnosis and treatment. To our knowledge, blood groups were studied for the first time by this study. Higher prevalence of brucellosis among the individuals with blood group A and less prevalence among the individuals with blood group B should be considered for further studies on pathogenesis.

Incorporating prognostic imaging biomarkers into clinical practice

PubMed Central

Miles, Kenneth A.

2013-01-01

Abstract A prognostic imaging biomarker can be defined as an imaging characteristic that is objectively measurable and provides information on the likely outcome of the cancer disease in an untreated individual and should be distinguished from predictive imaging biomarkers and imaging markers of response. A range of tumour characteristics of potential prognostic value can be measured using a variety imaging modalities. However, none has currently been adopted into routine clinical practice. This article considers key examples of emerging prognostic imaging biomarkers and proposes an evaluation framework that aims to demonstrate clinical efficacy and so support their introduction into the clinical arena. With appropriate validation within an established evaluation framework, prognostic imaging biomarkers have the potential to contribute to individualized cancer care, in some cases reducing the financial burden of expensive cancer treatments by facilitating their more rational use. PMID:24060808

Integrated Medical Curriculum: Advantages and Disadvantages

PubMed Central

Quintero, Gustavo A.; Vergel, John; Arredondo, Martha; Ariza, María-Cristina; Gómez, Paula; Pinzon-Barrios, Ana-Maria

2016-01-01

Most curricula for medical education have been integrated horizontally and vertically–-vertically between basic and clinical sciences. The Flexnerian curriculum has disappeared to permit integration between basic sciences and clinical sciences, which are taught throughout the curriculum. We have proposed a different form of integration where the horizontal axis represents the defined learning outcomes and the vertical axis represents the teaching of the sciences throughout the courses. We believe that a mere integration of basic and clinical sciences is not enough because it is necessary to emphasize the importance of humanism as well as health population sciences in medicine. It is necessary to integrate basic and clinical sciences, humanism, and health population in the vertical axis, not only in the early years but also throughout the curriculum, presupposing the use of active teaching methods based on problems or cases in small groups. PMID:29349303

Differential Diagnosis of a Periapical Radiolucent Lesion. A Case Report and Review of the Literature.

PubMed

Malek, Matthew; Cortes, Lina M; Sigurdsson, Asgeir; Rosenberg, Paul A

2015-01-01

This article demonstrates a methodological approach to diagnosing a periapical radiolucency that could not be diagnosed using only basic clinical and radiographic findings. The patient was a 59-year-old Hispanic female with a small tender mass on the lower gingiva associated with tooth #25. Radiographic appearance demonstrated a well-defined radiolucent lesion at the apices of the mandibular incisors. The patient had no significant medical history. Cone-beam computed tomography (CBCT) showed bony expansion of the buccal plate. Differential diagnosis included non-endodontic unilocular radiolucent lesions in the anterior mandibular region. Biopsy findings were consistent with periapical cemento-osseous dysplasia (PCOD). In conclusion, clinical appearance of PCOD varies from non-expansile and asymptomatic to being expansile and sometimes symptomatic. In the latter cases, it may be necessary to use additional diagnostic tools to confirm the diagnosis.

Exercise and reproductive dysfunction.

PubMed

Chen, E C; Brzyski, R G

1999-01-01

To provide an overview of our current understanding of exercise-induced reproductive dysfunction and an approach to its evaluation and management. A MEDLINE search was performed to review all articles with title words related to menstrual dysfunction, amenorrhea, oligomenorrhea, exercise, and athletic activities from 1966 to 1998. The pathophysiology, proposed mechanisms, clinical manifestations, evaluation, and management of exercise-associated reproductive dysfunction were compiled. Exercise-induced menstrual irregularity appears to be multifactorial in origin and remains a diagnosis of exclusion. The underlying mechanisms are mainly speculative. Clinical manifestations range from luteal phase deficiency to anovulation, amenorrhea, and even delayed menarche. Evaluation should include a thorough history and a complete physical plus pelvic examination. Most cases are reversible with dietary and exercise modifications. Hormonal replacement in cases of a prolonged hypoestrogenic state with evidence of increased bone loss is recommended, although the long-term consequences of prolonged hormonal deficiency are ill-defined.

Differential proteomics of human seminal plasma: A potential target for searching male infertility marker proteins.

PubMed

Tomar, Anil Kumar; Sooch, Balwinder Singh; Singh, Sarman; Yadav, Savita

2012-04-01

The clinical fertility tests, available in the market, fail to define the exact cause of male infertility in almost half of the cases and point toward a crucial need of developing better ways of infertility investigations. The protein biomarkers may help us toward better understanding of unknown cases of male infertility that, in turn, can guide us to find better therapeutic solutions. Many clinical attempts have been made to identify biomarkers of male infertility in sperm proteome but only few studies have targeted seminal plasma. Human seminal plasma is a rich source of proteins that are essentially required for development of sperm and successful fertilization. This viewpoint article highlights the importance of human seminal plasma proteome in reproductive physiology and suggests that differential proteomics integrated with functional analysis may help us in searching potential biomarkers of male infertility. © 2012 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Battered woman syndrome: An unusual presentation of pseudodystonia

PubMed Central

Chandra, Sadanandavalli Retnaswami; Issac, Thomas Gregor

2014-01-01

Pseudodystonia is the term used to define abnormal postures, which are not due to the disorders of the basal ganglia and is encountered very rarely in clinical practice and often difficult to distinguish from true dystonia syndromes. We report a rare case of a battered woman who was managed as restricted resistant dystonia with pharmacotherapy and intrathecal baclofen and referred for considering deep brain stimulation (DBS). The patient turned out to be a case of pseudodystonia due to bilateral hip dislocation. This was due to assault by a close relative and the history was masked by the patient for more than one and a half years. In a patient with late onset dystonia, who is resistant to the recommended treatment for dystonia along with atypical clinical features and electrophysiological parameters, pseudodystonia should always be considered as a possible diagnosis and evaluated for causes of the same. PMID:24966567

Battered woman syndrome: An unusual presentation of pseudodystonia.

PubMed

Chandra, Sadanandavalli Retnaswami; Issac, Thomas Gregor

2014-04-01

Pseudodystonia is the term used to define abnormal postures, which are not due to the disorders of the basal ganglia and is encountered very rarely in clinical practice and often difficult to distinguish from true dystonia syndromes. We report a rare case of a battered woman who was managed as restricted resistant dystonia with pharmacotherapy and intrathecal baclofen and referred for considering deep brain stimulation (DBS). The patient turned out to be a case of pseudodystonia due to bilateral hip dislocation. This was due to assault by a close relative and the history was masked by the patient for more than one and a half years. In a patient with late onset dystonia, who is resistant to the recommended treatment for dystonia along with atypical clinical features and electrophysiological parameters, pseudodystonia should always be considered as a possible diagnosis and evaluated for causes of the same.

A Gray-purple Mass on the Floor of the Mouth: Gigantic Mucogingival Pyogenic Granuloma in a Teenage Patient.

PubMed

Brunet-LLobet, Lluís; Miranda-Rius, Jaume; Lahor-Soler, Eduard; Mrina, Ombeni; Nadal, Alfons

2014-01-01

Pyogenic granuloma is defined as a benign neoplasm of vascular phenotype. This case describes the clinical and histopathological features of a gigantic mucogingival pyogenic granuloma, in a 14-year-old healthy black boy. This exophytic gray-purple mass, related to a toothpick injury, had more than twelve-month evolution on the anterior mandible involving lingual area besides to the floor of the mouth pressing the right salivary duct. Conservative excision was performed, followed by uncomplicated healing with no recurrence in two years. The histopathological examination reported a pyogenic granuloma (lobular capillary haemangioma). The authors provide a discussion of the presurgical differential diagnosis of the lesion. This case report presents an extremely uncommon location of a gigantic pyogenic granuloma, involving mucogingival complex and affecting the salivary outflow. This clinical manuscript may shed light on the controversies about possible mechanisms inducing oral pyogenic granuloma.

A Gray-purple Mass on the Floor of the Mouth: Gigantic Mucogingival Pyogenic Granuloma in a Teenage Patient

PubMed Central

Brunet-LLobet, Lluís; Miranda-Rius, Jaume; Lahor-Soler, Eduard; Mrina, Ombeni; Nadal, Alfons

2014-01-01

Pyogenic granuloma is defined as a benign neoplasm of vascular phenotype. This case describes the clinical and histopathological features of a gigantic mucogingival pyogenic granuloma, in a 14-year-old healthy black boy. This exophytic gray-purple mass, related to a toothpick injury, had more than twelve-month evolution on the anterior mandible involving lingual area besides to the floor of the mouth pressing the right salivary duct. Conservative excision was performed, followed by uncomplicated healing with no recurrence in two years. The histopathological examination reported a pyogenic granuloma (lobular capillary haemangioma). The authors provide a discussion of the presurgical differential diagnosis of the lesion. This case report presents an extremely uncommon location of a gigantic pyogenic granuloma, involving mucogingival complex and affecting the salivary outflow. This clinical manuscript may shed light on the controversies about possible mechanisms inducing oral pyogenic granuloma. PMID:24987485

Pigmented Paraaxillary Located "Complex" Basal Cell Carcinoma Imitating clinically irritated Melanocytic Lesion - Succesfull Surgical Approach in Bulgarian Patient.

PubMed

Voicu, Cristiana; Mihai, Mara; Lupu, Mihai; Patterson, James W; Koleva, Nely; Wollina, Uwe; Lotti, Torello; Lotti, Jacopo; França, Katlein; Batashki, Atanas; Gianfaldoni, Serena; Bakardzhiev, Ilko; Mangarov, Hristo; Tchernev, Georgi

2017-07-25

Basal cell carcinoma (BCC) is the most frequently encountered neoplasm worldwide. While nodular BCC is the most frequent clinical subtype, other forms of BCC, such as superficial, cystic, morpheiform, infiltrative, and pigmented may also be encountered. We present the case of a 67-year-old male with a relatively well-defined infiltrative, pigmented plaque with multiple colours and peripheral growth situated in the right axillary region. The histopathologic examination performed after complete surgical excision of the tumour revealed a complex pigmented BCC with macronodular, fibroepithelioma-like, cystic, focally infiltrative and basosquamous features. Uncommon locations of BCCs in sun-protected areas such as the axillary region require a higher degree of suspicion for diagnosis. The complex histology of the presented case, including subtypes with differing biologic attributes, emphasises the importance of histopathological examination in the diagnosis and therapeutic management of BCC.

Spinal schwannomatosis in the absence of neurofibromatosis: A very rare condition

PubMed Central

Landi, A.; Dugoni, D.E.; Marotta, N.; Mancarella, C.; Delfini, R.

2010-01-01

Schwannomatosis is defined as an extremely rare tumors syndrome characterized by the presence of multiple schwannomas in the absence of typical signs of NF1 and NF2 syndromes. The genetic and molecular analysis performed on these tumors makes it possible to name schwannomatosis as distinct clinical and genetic syndrome. The treatment in the case of symptomatic lesions is surgical removal; if the lesions are asymptomatic it is better to perform serial MRI studies. Given the high incidence of developing additional lesions in patients with schwannomatosis, it remains imperative to perform serial brain and spinal cord MRI studies during follow-up. The differential diagnosis is important including clinical and radiological criteria plus molecular genetic analysis of tumor cells and lymphocyte DNA. We report a rare case of spinal schwannomatosis in which genetic analysis performed on surgical samples showed two different mutations in the cells of the two lesions. PMID:22096683

Spinal schwannomatosis in the absence of neurofibromatosis: A very rare condition.

PubMed

Landi, A; Dugoni, D E; Marotta, N; Mancarella, C; Delfini, R

2011-01-01

Schwannomatosis is defined as an extremely rare tumors syndrome characterized by the presence of multiple schwannomas in the absence of typical signs of NF1 and NF2 syndromes. The genetic and molecular analysis performed on these tumors makes it possible to name schwannomatosis as distinct clinical and genetic syndrome. The treatment in the case of symptomatic lesions is surgical removal; if the lesions are asymptomatic it is better to perform serial MRI studies. Given the high incidence of developing additional lesions in patients with schwannomatosis, it remains imperative to perform serial brain and spinal cord MRI studies during follow-up. The differential diagnosis is important including clinical and radiological criteria plus molecular genetic analysis of tumor cells and lymphocyte DNA. We report a rare case of spinal schwannomatosis in which genetic analysis performed on surgical samples showed two different mutations in the cells of the two lesions.

Dubowitz syndrome: review of 141 cases including 36 previously unreported patients.

PubMed

Tsukahara, M; Opitz, J M

1996-05-03

We review clinical information on 141 individuals with Dubowitz syndrome, 105 reported since 1965, and 36 previously unreported. We define the Dubowitz syndrome phenotype on the basis of clinical descriptions. The facial appearance is characteristic and present in most patients with Dubowitz syndrome. The phenotypic spectrum is quite variable and ranges from normal growth and head circumference with mild psychomotor retardation and lack of eczema to a condition of severe growth retardation, mental retardation, microcephaly, and eczema. Overall, the condition may involve the cutaneous, ocular, dental, digestive, musculoskeletal, urogenital, cardiovascular, neurological, hematological, and immune systems. Characteristic behavior patterns which have not been cited previously are present in our cases; most patients are hyperactive, shy, hate crowds, and like music, rhythm, and vibrations from music speakers, tape recorders, or transmitted through floors. Dubowitz syndrome is an autosomal recessive disorder with possibly increased frequency of parental consanguinity. Heterogeneity cannot be excluded at this time.

The Long and Short Incubation Periods of Plasmodium vivax Malaria in Korea: The Characteristics and Relating Factors

PubMed Central

Kim, Sun-Ja; Kim, Si-Heon; Jo, Soo-Nam; Gwack, Jin; Youn, Seung-Ki

2013-01-01

Background The cases of Plasmodium vivax malaria in Korea are mixed with long and short incubation periods. This study aims to define clinico-epidemiologic chracteristcs of Plasmodium vivax malaria in Korea. Materials and Methods We selected the civilian cases infected with P. vivax malaria in Korea from the epidemiological investigation data of 2001 to 2010, whose incubation periods could be estimated. The long and short incubation periods were defined by duration of infection and onset time, and the cases were compared by demographic factors and clinical symptom, infection and onset time. The correlation was analyzed between the proportion of cases in the infected region with the long incubation period and meteorological factors along with latitude. Results The length of the mean short and long incubation periods for the cases were 25.5 days and 329.4 days, respectively. The total number of the study subjects was 897, and the number cases of short and long incubation periods was 575 (64.1%) and 322 (35.9%), respectively. The aspect of incubation period showed a significant difference by region of infection; there was a higher proportion of long incubation period infection cases in Gangwon-do than in Gyeonggi-do and Incheon. The proportion of long incubation period cases showed significant correlation with latitude and temperature of August and September of the infected regions. Conclusions Incubation period of P. vivax malaria in Korea showed significant difference by infected region, infection and onset time and the proportion of long incubation period cases showed significant correlation with latitude and meteorological factors of the infected regions. PMID:24265966

Molecular analyses of 6 different types of uterine smooth muscle tumors: Emphasis in atypical leiomyoma.

PubMed

Zhang, Qing; Ubago, Julianne; Li, Li; Guo, Haiyang; Liu, Yugang; Qiang, Wenan; Kim, J Julie; Kong, Beihua; Wei, Jian-Jun

2014-10-15

Uterine smooth muscle tumors (USMTs) constitute a group of histologic, genetic, and clinical heterogeneous tumors that include at least 6 major histologically defined tumor types: leiomyoma (ULM), mitotically active leiomyoma (MALM), cellular leiomyoma (CLM), atypical leiomyoma (ALM), uncertain malignant potential (STUMP), and leiomyosarcoma (LMS). Apart from ULM and LMS, the nature of these variants is not well defined. A total of 167 cases of different USMT variants were collected, reviewed, and diagnostically confirmed based on the World Health Organization and Stanford schemes. These included 38 cases of LMS, 18 cases of STUMP, 42 cases of ALM, 22 cases of CLM, 7 cases of MALM, and 40 cases of ULM. Molecular analysis included selected microRNAs (miRNAs), oncogenes, and tumor suppressors that are highly relevant to USMT. Overall, 49% (17/35) of LMS cases and 7% (1/14) of STUMP cases died due to their USMT, but no deaths were attributed to ALM. miRNA profiling revealed that ALM and LMS shared similar miRNA signatures. P53 mutations and PTEN deletions were significantly higher in LMS, ALM, and STUMP compared with other USMT variants (P < .01). In contrast, MED12 mutations were extremely common in ULM and MALM (> 74%) but were significantly less common (< 15%) in CLM, ALM, STUMP, and LMS (P < .01). Six types of USMT have different gene mutation fingerprints. ALM shares many molecular alterations with LMS. Our findings suggest that ALM may be a precursor lesion of LMS or have similar genetic changes during its early stage. © 2014 American Cancer Society.

The Long and Short Incubation Periods of Plasmodium vivax Malaria in Korea: The Characteristics and Relating Factors.

PubMed

Kim, Sun-Ja; Kim, Si-Heon; Jo, Soo-Nam; Gwack, Jin; Youn, Seung-Ki; Jang, Jae-Yeon

2013-06-01

The cases of Plasmodium vivax malaria in Korea are mixed with long and short incubation periods. This study aims to define clinico-epidemiologic chracteristcs of Plasmodium vivax malaria in Korea. We selected the civilian cases infected with P. vivax malaria in Korea from the epidemiological investigation data of 2001 to 2010, whose incubation periods could be estimated. The long and short incubation periods were defined by duration of infection and onset time, and the cases were compared by demographic factors and clinical symptom, infection and onset time. The correlation was analyzed between the proportion of cases in the infected region with the long incubation period and meteorological factors along with latitude. The length of the mean short and long incubation periods for the cases were 25.5 days and 329.4 days, respectively. The total number of the study subjects was 897, and the number cases of short and long incubation periods was 575 (64.1%) and 322 (35.9%), respectively. The aspect of incubation period showed a significant difference by region of infection; there was a higher proportion of long incubation period infection cases in Gangwon-do than in Gyeonggi-do and Incheon. The proportion of long incubation period cases showed significant correlation with latitude and temperature of August and September of the infected regions. Incubation period of P. vivax malaria in Korea showed significant difference by infected region, infection and onset time and the proportion of long incubation period cases showed significant correlation with latitude and meteorological factors of the infected regions.

A platform for discovery: The University of Pennsylvania Integrated Neurodegenerative Disease Biobank

PubMed Central

Toledo, Jon B.; Van Deerlin, Vivianna M.; Lee, Edward B.; Suh, EunRan; Baek, Young; Robinson, John L.; Xie, Sharon X.; McBride, Jennifer; Wood, Elisabeth M.; Schuck, Theresa; Irwin, David J.; Gross, Rachel G.; Hurtig, Howard; McCluskey, Leo; Elman, Lauren; Karlawish, Jason; Schellenberg, Gerard; Chen-Plotkin, Alice; Wolk, David; Grossman, Murray; Arnold, Steven E.; Shaw, Leslie M.; Lee, Virginia M.-Y.; Trojanowski, John Q.

2014-01-01

Neurodegenerative diseases (NDs) are defined by the accumulation of abnormal protein deposits in the central nervous system (CNS), and only neuropathological examination enables a definitive diagnosis. Brain banks and their associated scientific programs have shaped the actual knowledge of NDs, identifying and characterizing the CNS deposits that define new diseases, formulating staging schemes, and establishing correlations between neuropathological changes and clinical features. However, brain banks have evolved to accommodate the banking of biofluids as well as DNA and RNA samples. Moreover, the value of biobanks is greatly enhanced if they link all the multidimensional clinical and laboratory information of each case, which is accomplished, optimally, using systematic and standardized operating procedures, and in the framework of multidisciplinary teams with the support of a flexible and user-friendly database system that facilitates the sharing of information of all the teams in the network. We describe a biobanking system that is a platform for discovery research at the Center for Neurodegenerative Disease Research at the University of Pennsylvania. PMID:23978324

Hospital information system: reusability, designing, modelling, recommendations for implementing.

PubMed

Huet, B

1998-01-01

The aims of this paper are to precise some essential conditions for building reuse models for hospital information systems (HIS) and to present an application for hospital clinical laboratories. Reusability is a general trend in software, however reuse can involve a more or less part of design, classes, programs; consequently, a project involving reusability must be precisely defined. In the introduction it is seen trends in software, the stakes of reuse models for HIS and the special use case constituted with a HIS. The main three parts of this paper are: 1) Designing a reuse model (which objects are common to several information systems?) 2) A reuse model for hospital clinical laboratories (a genspec object model is presented for all laboratories: biochemistry, bacteriology, parasitology, pharmacology, ...) 3) Recommendations for generating plug-compatible software components (a reuse model can be implemented as a framework, concrete factors that increase reusability are presented). In conclusion reusability is a subtle exercise of which project must be previously and carefully defined.

Joint ultrasound baseline abnormalities predict a specific long-term clinical outcome in systemic lupus erythematosus patients.

PubMed

Corzo, P; Salman-Monte, T C; Torrente-Segarra, V; Polino, L; Mojal, S; Carbonell-Abelló, J

2017-06-01

Objective To describe long-term clinical and serological outcome in all systemic lupus erythematosus (SLE) domains in SLE patients with hand arthralgia (HA) and joint ultrasound (JUS) inflammatory abnormalities, and to compare them with asymptomatic SLE patients with normal JUS. Methods SLE patients with HA who presented JUS inflammatory abnormalities ('cases') and SLE patients without HA who did not exhibit JUS abnormalities at baseline ('controls') were included. All SLE clinical and serological domain involvement data were collected. End follow-up clinical activity and damage scores (systemic lupus erythematosus disease activity index (SLEDAI), Systemic Lupus International Collaborating Clinics/American College of Rheumatology (SLICC/ACR)) were recorded. JUS inflammatory abnormalities were defined based on the Proceedings of the Seventh International Consensus Conference on Outcome Measures in Rheumatology Clinical Trials (OMERACT-7) definitions. Statistical analyses were carried out to compare 'cases' and 'controls'. Results A total of 35 patients were recruited. The 'cases', n = 18/35, had a higher incidence of musculoskeletal involvement (arthralgia and/or arthritis) through the follow-up period (38.9% vs 0%, p = 0.008) and received more hydroxychloroquine (61.1% vs 25.0%, p = 0.034) and methotrexate (27.8% vs 0%, p = 0.046) compared to 'controls', n = 17/35. Other comparisons did not reveal any statistical differences. Conclusions We found SLE patients with arthralgia who presented JUS inflammatory abnormalities received more hydroxychloroquine and methotrexate, mainly due to persistent musculoskeletal involvement over time. JUS appears to be a useful technique for predicting worse musculoskeletal outcome in SLE patients.

Late-onset immune-mediated adverse effects after poly-L-lactic acid injection in non-HIV patients: clinical findings and long-term follow-up.

PubMed

Alijotas-Reig, Jaume; Garcia-Gimenez, Victor; Vilardell-Tarres, Miquel

2009-01-01

It has been thought that poly-L-lactic acid (PLLA) injections do not have inflammatory side effects. Recent evidence shows that local/regional/systemic delayed adverse effects may appear with its use. To evaluate the clinical complaints, treatment response and long-term follow-up of non-HIV patients with delayed immune-mediated adverse effects related to PLLA injections. Prospective, case series study of 10 patients with delayed adverse effects related to PLLA injections. The inclusion criterion was defined as the onset at least 6 months after PLLA use, with 1 or more of the following clinical signs: oedema, skin induration, swelling/tender nodules with or without discharge of pus or filler material. Several systemic manifestations were also included. Patients with immediate side effects were excluded. Patients underwent clinical management and long-term follow-up. The average latency period to the onset of symptoms was 19.2 months (range: 6-60). Tender, inflammatory nodules and facial oedema were commonly seen. One case presented a systemic granulomatous disorder as a complication. After 50.2 months of average follow-up (range: 38-78), 5 patients are in remission, 4 have recurrent bouts and the last case has been lost to follow-up. Although infrequently, local and/or regional and/or systemic delayed and recurrent granulomatous reactions may complicate PLLA gel injections. Copyright 2009 S. Karger AG, Basel.

Acute acalculous cholecystitis: A new safety risk for patients with MS treated with alemtuzumab.

PubMed

Croteau, David; Flowers, Charlene; Kulick, Corrinne G; Brinker, Allen; Kortepeter, Cindy M

2018-05-01

To evaluate acute acalculous cholecystitis (AAC) as a potential safety risk for patients treated with alemtuzumab. The Food and Drug Administration Adverse Event Reporting System and the medical literature were searched for cases of AAC in conjunction with alemtuzumab for all clinical indications. Eight spontaneously reported cases meeting the case definition of AAC in close temporal association with alemtuzumab use were identified. Based on established criteria within the Food and Drug Administration Division of Pharmacovigilance for causality assessment, 4 cases were assessed as probable while 4 were possible. All cases occurred in patients with relapsing-remitting multiple sclerosis. Seven of the 8 cases presented with AAC during or shortly after alemtuzumab treatment, thereby suggesting an acute cytokine release syndrome as a putative pathogenic mechanism. The cases identified in this review differ from the typical AAC cases described in the medical literature based on female preponderance, lack of concurrent critical illnesses, inconsistent presence of other risk factors, and resolution with conservative treatment in the majority of cases. AAC represents a new and potentially life-threatening adverse event associated with alemtuzumab use in relapsing-remitting multiple sclerosis. In cases seen to date, early and conservative treatment resulted in good clinical outcome, although the natural history of AAC in this population without critical illness is not well defined. Awareness of this safety risk by general and specialty neurologists is important for prompt recognition and optimal management. © 2018 American Academy of Neurology.

COLLABORATE©: A Universal Competency-Based Paradigm for Professional Case Management, Part II: Competency Clarification.

PubMed

Treiger, Teresa M; Fink-Samnick, Ellen

2013-01-01

The purpose of this second article of a 3-article series is to clarify the competencies for a new paradigm of case management built upon a value-driven foundation that : Applicable to all health care sectors where case management is practiced. In moving forward, the one fact that rings true is that there will be a constant change in our industry. As the health care terrain shifts and new influences continually surface, there will be consequences for case management practice. These impacts require nimble clinical professionals in possession of recognized and firmly established competencies. They must be agile to frame (and reframe) their professional practice to facilitate the best possible outcomes for their patients. Case managers can choose to be Gumby™ or Pokey™. This is exactly the time to define a competency-based case management model, highlighting one sufficiently fluid to fit into any setting of care. The practice of case management transcends the vast array of representative professional disciplines and educational levels. A majority of current models are driven by business priorities rather than the competencies critical to successful practice and quality patient outcomes. This results in a fragmented professional case management identity. Although there is an inherent value in what each discipline brings to the table, this advanced model unifies behind case management's unique, strengths-based identity instead of continuing to align within traditional divisions (e.g., discipline, work setting, population served). This model fosters case management's expanding career advancement opportunities, including a reflective clinical ladder.

Difficult Diagnosis between B Cell Lymphoma and Classical Hodgkin's Lymphoma.

PubMed

Rentas Torres, Yaixa; Rodríguez-López, Joshua L; Valentin, Maria; Silva, Hector

2015-01-01

Although primary mediastinal large B-cell lymphoma and classic Hodgkin lymphoma of nodular sclerosis type are distinct disease, they share several clinical characteristics and biologic features. However, there are mediastinal lymphomas that not fit in either category. These types of lymphomas are recognized as mediastinal gray zone lymphomas. Gray zone lymphomas are lymphatic tumors that cannot be assigned to a defined lymphoma entity due to morphological, clinical, or genetic reasons. In this report, we present a case of a 22 year-old-Hispanic-female diagnosed with B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and Hodgkin lymphoma.

Contracting for intensive care services.

PubMed

Dorman, S

1996-01-01

Purchasers will increasingly expect clinical services in the NHS internal market to provide objective measures of their benefits and cost effectiveness in order to maintain or develop current funding levels. There is limited scientific evidence to demonstrate the clinical effectiveness of intensive care services in terms of mortality/morbidity. Intensive care is a high-cost service and studies of cost-effectiveness need to take account of case-mix variations, differences in admission and discharge policies, and other differences between units. Decisions over development or rationalisation of intensive care services should be based on proper outcome studies of well defined patient groups. The purchasing function itself requires development in order to support effective contracting.

Recommendations on the diagnosis, treatment and monitoring of hypogonadism in men.

PubMed

Lunenfeld, Bruno; Mskhalaya, George; Zitzmann, Michael; Arver, Stefan; Kalinchenko, Svetlana; Tishova, Yuliya; Morgentaler, Abraham

2015-03-01

Hypogonadism or Testosterone Deficiency (TD) in adult men as defined by low levels of serum testosterone accompanied by characteristic symptoms and/or signs as detailed further on can be found in long-recognized clinical entities such as Klinefelter syndrome, Kallmann syndrome, pituitary or testicular disorders, as well as in men with idiopathic, metabolic or iatrogenic conditions that result in testosterone deficiency. These recommendations do not encompass the full range of pathologies leading to hypogonadism (testosterone deficiency), but instead focus on the clinical spectrum of hypogonadism related to metabolic and idiopathic disorders that contribute to the majority of cases that occur in adult men.

Recommendations on the diagnosis, treatment and monitoring of hypogonadism in men

PubMed Central

Lunenfeld, Bruno; Zitzmann, Michael; Arver, Stefan; Kalinchenko, Svetlana; Tishova, Yuliya; Morgentaler, Abraham

2015-01-01

Hypogonadism or Testosterone Deficiency (TD) in adult men as defined by low levels of serum testosterone accompanied by characteristic symptoms and/or signs as detailed further on can be found in long-recognized clinical entities such as Klinefelter syndrome, Kallmann syndrome, pituitary or testicular disorders, as well as in men with idiopathic, metabolic or iatrogenic conditions that result in testosterone deficiency. These recommendations do not encompass the full range of pathologies leading to hypogonadism (testosterone deficiency), but instead focus on the clinical spectrum of hypogonadism related to metabolic and idiopathic disorders that contribute to the majority of cases that occur in adult men. PMID:25657080

Auditory aura in nocturnal frontal lobe epilepsy: a red flag to suspect an extra-frontal epileptogenic zone.

PubMed

Ferri, Lorenzo; Bisulli, Francesca; Nobili, Lino; Tassi, Laura; Licchetta, Laura; Mostacci, Barbara; Stipa, Carlotta; Mainieri, Greta; Bernabè, Giorgia; Provini, Federica; Tinuper, Paolo

2014-11-01

To describe the anatomo-electro-clinical findings of patients with nocturnal hypermotor seizures (NHS) preceded by auditory symptoms, to evaluate the localizing value of auditory aura. Our database of 165 patients with nocturnal frontal lobe epilepsy (NFLE) diagnosis confirmed by videopolysomnography (VPSG) was reviewed, selecting those who reported an auditory aura as the initial ictal symptom in at least two NHS during their lifetime. Eleven patients were selected (seven males, four females). According to the anatomo-electro-clinical data, three groups were identified. Group 1 [defined epileptogenic zone (EZ)]: three subjects were studied with stereo-EEG. The EZ lay in the left superior temporal gyrus in two cases, whereas in the third case seizures arose from a dysplastic lesion located in the left temporal lobe. One of these three patients underwent left Heschl's gyrus resection, and is currently seizure-free. Group 2 (presumed EZ): three cases in which a presumed EZ was identified; in the left temporal lobe in two cases and in the left temporal lobe extending to the insula in one subject. Group 3 (uncertain EZ): five cases had anatomo-electro-clinical correlations discordant. This work suggests that auditory aura may be a helpful anamnestic feature suggesting an extra-frontal seizure origin. This finding could guide secondary investigations to improve diagnostic definition and selection of candidates for surgical treatment. Copyright © 2014 The Authors. Published by Elsevier B.V. All rights reserved.

[Occult pneumothorax: Does it take drain before elective surgery?].

PubMed

Bensghir, M; Moutaoukil, M; Meziane, M; Jaafari, A; Hemmaoui, B; Haimeur, C

2016-08-01

Pneumothorax occult is defined by the presence of a non-visible to standard asymptomatic pneumothorax and pulmonary diagnosed only by X-ray computed tomography. The presence of this type of pneumothorax before planned surgery is a rare situation. What to do remains non-consensual. Through two clinic cases and a literature review, the authors discuss the modalities of management of this entity. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Defining the Pathophysiological Role of Tau in Experimental TBI

DTIC Science & Technology

2017-10-01

clinically a blood test for improving the diagnosis of TBI-induced chronic neurodegenerative disease in the long-term post -injury time period. The...we will complete the quantitative analysis of perforant pathway synapse integrity in all 63 long-term post -injury cases. Our results thus far support...substantiated by quantitative analysis of NeuN-positive neuronal density in lateral entorhinal cortex layer II at 4 months post -injury (Table 1). At

Concordance between European and US case definitions of healthcare-associated infections

PubMed Central

2012-01-01

Background Surveillance of healthcare-associated infections (HAI) is a valuable measure to decrease infection rates. Across Europe, inter-country comparisons of HAI rates seem limited because some countries use US definitions from the US Centers for Disease Control and Prevention (CDC/NHSN) while other countries use European definitions from the Hospitals in Europe Link for Infection Control through Surveillance (HELICS/IPSE) project. In this study, we analyzed the concordance between US and European definitions of HAI. Methods An international working group of experts from seven European countries was set up to identify differences between US and European definitions and then conduct surveillance using both sets of definitions during a three-month period (March 1st -May 31st, 2010). Concordance between case definitions was estimated with Cohen’s kappa statistic (κ). Results Differences in HAI definitions were found for bloodstream infection (BSI), pneumonia (PN), urinary tract infection (UTI) and the two key terms “intensive care unit (ICU)-acquired infection” and “mechanical ventilation”. Concordance was analyzed for these definitions and key terms with the exception of UTI. Surveillance was performed in 47 ICUs and 6,506 patients were assessed. One hundred and eighty PN and 123 BSI cases were identified. When all PN cases were considered, concordance for PN was κ = 0.99 [CI 95%: 0.98-1.00]. When PN cases were divided into subgroups, concordance was κ = 0.90 (CI 95%: 0.86-0.94) for clinically defined PN and κ = 0.72 (CI 95%: 0.63-0.82) for microbiologically defined PN. Concordance for BSI was κ = 0.73 [CI 95%: 0.66-0.80]. However, BSI cases secondary to another infection site (42% of all BSI cases) are excluded when using US definitions and concordance for BSI was κ = 1.00 when only primary BSI cases, i.e. Europe-defined BSI with ”catheter” or “unknown” origin and US-defined laboratory-confirmed BSI (LCBI), were considered. Conclusions Our study showed an excellent concordance between US and European definitions of PN and primary BSI. PN and primary BSI rates of countries using either US or European definitions can be compared if the points highlighted in this study are taken into account. PMID:22958646

Patient population management: taking the leap from variance analysis to outcomes measurement.

PubMed

Allen, K M

1998-01-01

Case managers today at BCHS have a somewhat different role than at the onset of the Collaborative Practice Model. They are seen throughout the organization as: Leaders/participants on cross-functional teams. Systems change agents. Integrating/merging with quality services and utilization management. Outcomes managers. One of the major cross-functional teams is in the process of designing a Care Coordinator role. These individuals will, as one of their functions, assume responsibility for daily patient care management activities. A variance tracking program has come into the Utilization Management (UM) department as part of a software package purchased to automate UM work activities. This variance program could potentially be used by the new care coordinators as the role develops. The case managers are beginning to use a Decision Support software, (Transition Systems Inc.) in the collection of data that is based on a cost accounting system and linked to clinical events. Other clinical outcomes data bases are now being used by the case manager to help with the collection and measurement of outcomes information. Hoshin planning will continue to be a framework for defining and setting the targets for clinical and financial improvements throughout the organization. Case managers will continue to be involved in many of these system-wide initiatives. In the words of Galileo, 1579, "You need to count what's countable, measure what's measurable, and what's not measurable, make measurable."

Gingival cyst of the adult: regenerative therapy of associated root exposure. A case report and literature review.

PubMed

Kelsey, W Patrick; Kalmar, John R; Tatakis, Dimitris N

2009-12-01

The gingival cyst of the adult (GCA) is an uncommon developmental cyst of odontogenic origin most frequently seen near mandibular canines and premolars and is routinely treated with excisional biopsy. This article presents a case of a GCA treated with a combined regenerative approach and reviews the GCA literature with an emphasis on the clinical aspects of this lesion. A 54 year-old man presented for treatment of generalized severe chronic periodontitis. Clinical examination revealed a cystic lesion in the gingiva of the mandibular canine-premolar area. Radiographs revealed a well-defined radiolucency in the coronal one-third of the tooth roots. Surgical enucleation of the lesion revealed root exposure of the second premolar. Because of the anatomy of the lesion-associated defect, regenerative treatment, using a combination of freeze-dried bone allograft and a collagen membrane, was considered the therapeutic approach of choice. The biopsy revealed histologic features consistent with a GCA. Clinical and radiographic examinations 1 year post-surgery indicated uneventful soft tissue healing and bone fill of the initial defect. The review of the literature revealed only one other case of root exposure associated with GCA and no previous report of regenerative therapy. In rare instances, a GCA lesion may result in tooth-root exposure. In such cases, a combined regenerative treatment approach may be used to achieve resolution.

Predictors of clinical success among a national Veterans Affairs cohort with methicillin-resistant Staphylococcus aureus pneumonia.

PubMed

Caffrey, Aisling R; Morrill, Haley J; Puzniak, Laura A; LaPlante, Kerry L

2014-04-01

The treatment of methicillin-resistant Staphylococcus aureus (MRSA) pneumonia is exceedingly complicated, which is concerning because of the high mortality rate associated with the infection. Identification of independent predictors of clinical success can optimize patient care by assisting clinicians in treatment decisions. Our goal was to identify independent predictors of clinical success in a national Veterans Affairs (VA) cohort of patients with MRSA pneumonia. A nested case-control study was conducted among a cohort of VA patients with MRSA pneumonia receiving linezolid or vancomycin between January 2002 and September 2010. Cases included those demonstrating clinical success, defined as discharge from the hospital or intensive care unit by day 14 after treatment initiation, in the absence of death, therapy change, or intubation by day 14. Control subjects represented nonsuccess, defined as therapy change, intubation, intensive care unit admission, readmission, or death between treatment initiation and day 14. The potential predictors assessed included treatment, patient demographic and admission characteristics, previous health care and medication exposures, comorbidities, and medical history. Odds ratios (ORs) and 95% CIs were calculated from logistic regression. Our study included 2442 cases of clinical success and 1290 control subjects. Demographic characteristics varied between the clinical success and nonsuccess groups, including age, race, and region of facility. A current diagnosis of chronic respiratory disease (46% vs 42%) and diagnosis of pneumonia in the year before the MRSA pneumonia admission (37% vs 32%) were both more common in the clinical success group. Despite these significant differences, only 2 predictors of clinical success were identified in our study: previous complication of an implant or graft, including mechanical complications and infections, in the year before the MRSA pneumonia admission (adjusted OR, 1.55 [95% CI, 1.17-2.06]) and treatment with linezolid (adjusted OR, 1.53 [95% CI, 1.12-2.10]). Predictors of nonsuccess (adjusted OR [95% CI) included diagnosis of concomitant urinary tract infection (0.82 [0.70-0.96]), intravenous line (0.76 [0.66-0.89]), previous coagulopathy (0.74 [0.56-0.96]), previous amputation procedure (0.72 [0.53-0.98]), current coagulopathy diagnosis (0.71 [0.53-0.96]), dialysis (0.54 [0.38-0.76]), multiple inpatient procedures (0.53 [0.45-0.62]), inpatient surgery (0.48 [0.41-0.57]), and previous endocarditis (0.24 [0.07-0.81]). MRSA pneumonia tends to affect patients with complex care, and identification of the predictors of clinical success is useful when considering different therapeutic approaches. In this national cohort of VA patients with MRSA pneumonia, treatment was the only modifiable variable predicting clinical success. Published by EM Inc USA.

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.

Three-dimensional ultrasound and magnetic resonance imaging assessment of cervix and vagina in women with uterine malformations.

PubMed

Bermejo, C; Martínez-Ten, P; Recio, M; Ruiz-López, L; Díaz, D; Illescas, T

2014-03-01

To investigate the accuracy of three-dimensional ultrasound (3D-US) with respect to magnetic resonance imaging (MRI), and compared to clinical examination, in the assessment of cervix and vagina in women with uterine malformations. In this prospective study, 16 patients diagnosed with uterine malformation with cervical involvement underwent 3D-US examination. The acquisition of cervical volumes was transvaginal, with four cases repeated in the peri-ovulation period, while vaginal volumes were acquired by transperineal imaging following filling of the vagina with gel. MRI was performed in 13 patients using endovaginal gel. All cases underwent clinical examination, comprising bimanual gynecological examination and speculoscopy. Diagnostic concordance of each of the methods with the gold standard was calculated. 3D-US cervical examinations revealed 12 cases of duplicate cervix, two of complete septate cervix and two of incomplete septate cervix. Images of the cervical canal in the peri-ovulation period were judged subjectively to be better in quality, but did not lead us to change any diagnosis. 3D-US vaginal examinations revealed four cases with a vaginal dividing wall and two with a blind hemivagina. None of the 3D-US findings contradicted the clinical findings of the cervix; however, clinically we observed two cases with vaginal dividing wall that had not been diagnosed with 3D-US. MRI diagnosed nine cases of duplicate cervix, three of complete septate cervix, one of incomplete septate cervix, five of vaginal dividing wall and two of blind hemivagina. One case diagnosed as complete septate cervix was in fact a duplicate cervix on 3D-US and on clinical examination. Compared with the gold standard, both 3D-US and MRI were highly efficient in the diagnosis of anomalies of the cervix and vagina. The overall diagnostic concordance of 3D-US with clinical examination (kappa, 0.84; 95% CI, 0.62-1) was slightly inferior to that of MRI with clinical examination (kappa, 0.9; 95% CI, 0.72-1), but this difference was not statistically significant. The acquisition of isolated cervical volumes, without including the uterus, defines the extent of the ectocervix and the limits of the cervical canal in uterine malformations. The use of endovaginal gel makes possible the diagnosis of associated vaginal anomalies with 3D-US. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd.

Comparison of clinical features and outcomes of medically attended influenza A and influenza B in a defined population over four seasons: 2004-2005 through 2007-2008.

PubMed

Irving, Stephanie A; Patel, Darshan C; Kieke, Burney A; Donahue, James G; Vandermause, Mary F; Shay, David K; Belongia, Edward A

2012-01-01

There are few prospectively collected data comparing illnesses caused by different subtypes of influenza. We compared the clinical presentation and outcomes of subjects with primarily outpatient-attended influenza A and B infections during four consecutive influenza seasons (2004-2005 through 2007-2008). Patients were prospectively enrolled and tested for influenza following an encounter for acute respiratory illness. Influenza infections were confirmed by culture or reverse transcription polymerase chain reaction; subtype was determined for a sample of influenza A isolates each season. Clinical characteristics of influenza A and B infections were compared across and within individual seasons. We identified 901 cases of influenza A and 284 cases of influenza B; 98% of cases were identified through an outpatient medical encounter. Thirty-six percent of patients with each strain had received seasonal influenza vaccine prior to illness onset. There were no consistent differences in symptoms associated with influenza A and B. Influenza A infection was associated with earlier care seeking compared with influenza B during the 2005-2006 and 2007-2008 seasons, when H3N2 was the dominant type A virus, and in a combined analysis that included all seasons. Twenty-six (2·2%) of 1185 cases were diagnosed with radiographically confirmed pneumonia, and 59 (5%) of 1185 patients were hospitalized within 30 days of illness onset. Over four influenza seasons, aside from shorter intervals from illness onset to clinical encounter for infections with the A(H3N2) subtype, clinical symptoms and outcomes were similar for patients with predominantly outpatient-attended influenza A and B infections. © 2011 Blackwell Publishing Ltd.

Laboratory confirmation of measles in elimination settings: experience from the Republic of the Marshall Islands, 2003

PubMed Central

Nandy, Robin; Hickman, Carole J; Langidrik, Justina R; Strebel, Peter M; Papania, Mark J; Seward, Jane F; Bellini, William J

2009-01-01

Abstract Objective To highlight the complications involved in interpreting laboratory tests of measles immunoglobulin M (IgM) for confirmation of infection during a measles outbreak in a highly vaccinated population after conducting a mass immunization campaign as a control measure. Methods This case study was undertaken in the Republic of the Marshall Islands during a measles outbreak in 2003, when response immunization was conducted. A measles case was defined as fever and rash and one or more of cough, coryza or conjunctivitis. Between 13 July and 7 November 2003, serum samples were obtained from suspected measles cases for serologic testing and nasopharyngeal swabs were taken for viral isolation by reverse transcriptase polymerase chain reaction (RT–PCR). Findings Specimens were collected from 201 suspected measles cases (19% of total): of the ones that satisfied the clinical case definition, 45% were IgM positive (IgM+) and, of these, 24% had received measles vaccination within the previous 45 days (up to 45 days after vaccination an IgM+ result could be due to either vaccination or wild-type measles infection). The proportion of IgM+ results varied with clinical presentation, the timing of specimen collection and vaccination status. Positive results on RT–PCR occurred in specimens from eight IgM-negative and four IgM+ individuals who had recently been vaccinated. Conclusion During measles outbreaks, limiting IgM testing to individuals who meet the clinical case definition and have not been recently vaccinated allows for measles to be confirmed while conserving resources. PMID:19274360

A queueing theory based model for business continuity in hospitals.

PubMed

Miniati, R; Cecconi, G; Dori, F; Frosini, F; Iadanza, E; Biffi Gentili, G; Niccolini, F; Gusinu, R

2013-01-01

Clinical activities can be seen as results of precise and defined events' succession where every single phase is characterized by a waiting time which includes working duration and possible delay. Technology makes part of this process. For a proper business continuity management, planning the minimum number of devices according to the working load only is not enough. A risk analysis on the whole process should be carried out in order to define which interventions and extra purchase have to be made. Markov models and reliability engineering approaches can be used for evaluating the possible interventions and to protect the whole system from technology failures. The following paper reports a case study on the application of the proposed integrated model, including risk analysis approach and queuing theory model, for defining the proper number of device which are essential to guarantee medical activity and comply the business continuity management requirements in hospitals.

PubMed Central

Jannin, J.; Moulia-Pelat, J. P.; Chanfreau, B.; Penchenier, L.; Louis, J. P.; Nzaba, P.; de La Baume, F. E.; Eozenou, P.; Cattand, P.

1993-01-01

A case-control study was carried out in the Congo to define a scoring system based on a number of clinical and epidemiological criteria of African trypanosomiasis due to Trypanosoma brucei gambiense which could be used by peripheral health services to establish a diagnosis. The survey comprised 163 cases and 326 controls. Clinical signs and symptoms were fever, headache, pruritus and skin lesions due to scratching, diarrhoea, oedema, cervical adenopathies, sleep rhythm disturbances, changes in appetite, amenorrhoea or impotence, mental confusion, neurological signs, and other minor clinical disturbances. Other criteria were a history of previous trypanosomiasis and the presence of domestic animals in the home environment. Analysis of the results showed that neither a single criterion nor a group of criteria is pathognomonic for the disease. The selected criteria do not allow discrimination of sleeping sickness patients among suspected individuals who present themselves. A scoring system is therefore of little use at the peripheral level of health services, particularly when considering the additional workload involved. The low diagnostic value of these clinical signs and symptoms and other indicators in African trypanosomiasis stresses the difficulty in developing an early warning tool for an integrated control strategy in primary health care. PMID:8490985

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.

PubMed

Antony, Dinu; Nampoory, Narayanan; Bacchelli, Chiara; Melhem, Motasem; Wu, Kaman; James, Chela T; Beales, Philip L; Hubank, Mike; Thomas, Daisy; Mashankar, Anant; Behbehani, Kazem; Schmidts, Miriam; Alsmadi, Osama

2017-12-01

Exome sequencing is becoming widely popular and affordable, making it one of the most desirable methods for the identification of rare genetic variants for clinical diagnosis. Here, we report the clinical application of whole exome sequencing for the ultimate diagnosis of a ciliary chondrodysplasia case presented with an initial clinical diagnosis of Asphyxiating Thoracic Dystrophy (ATD, Jeune Syndrome). We have identified a novel homozygous missense mutation in WDR35 (c.206G > A), a gene previously associated with Sensenbrenner Syndrome, Ellis-van Creveld syndrome and Short-rib polydactyly syndrome type V. The genetic findings in this family led to the re-evaluation of the initial diagnosis and a differential diagnosis of Sensenbrenner Syndrome was made after cautious re-examination of the patient. Cell culture studies revealed normal subcellular localization of the mutant WDR35 protein in comparison to wildtype protein, pointing towards impaired protein-protein interaction and/or altered cell signaling pathways as a consequence of the mutated allele. This research study highlights the importance of including pathogenic variant identification in the diagnosis pipeline of ciliary chondrodysplasias, especially for clinically not fully defined phenotypes. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Disease Beyond the Arch: A Systematic Review of Middle Aortic Syndrome in Childhood.

PubMed

Rumman, Rawan K; Nickel, Cheri; Matsuda-Abedini, Mina; Lorenzo, Armando J; Langlois, Valerie; Radhakrishnan, Seetha; Amaral, Joao; Mertens, Luc; Parekh, Rulan S

2015-07-01

Middle aortic syndrome (MAS) is a rare clinical entity in childhood, characterized by a severe narrowing of the distal thoracic and/or abdominal aorta, and associated with significant morbidity and mortality. MAS remains a relatively poorly defined disease. This paper systematically reviews the current knowledge on MAS with respect to etiology, clinical impact, and therapeutic options. A systematic search of 3 databases (Embase, MEDLINE, and Cochrane Central Register of Controlled Trials) yielded 1,252 abstracts that were screened based on eligibility criteria resulting in 184 full-text articles with 630 reported cases of childhood MAS. Data extracted included patient characteristics, clinical presentation, vascular phenotype, management, and outcomes. Most cases of MAS are idiopathic (64%), 15% are associated with Mendelian disorders, and 17% are related to inflammatory diseases. Extra-aortic involvement including renal (70%), superior mesenteric (30%), and celiac (22%) arteries is common, especially among those with associated Mendelian disorders. Inferior mesenteric artery involvement is almost never reported. The majority of cases (72%) undergo endovascular or surgical management with residual hypertension reported in 34% of cases, requiring medication or reintervention. Clinical manifestations and extent of extra-aortic involvement are lacking. MAS presents with significant involvement of visceral arteries with over two thirds of cases having renal artery stenosis, and one third with superior mesenteric artery stenosis. The extent of disease is worse among those with genetic and inflammatory conditions. Further studies are needed to better understand etiology, long-term effectiveness of treatment, and to determine the optimal management of this potentially devastating condition. © American Journal of Hypertension, Ltd 2015. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

A systematic review of ultrasound-accelerated catheter-directed thrombolysis in the treatment of deep vein thrombosis.

PubMed

Shi, Yadong; Shi, Wanyin; Chen, Liang; Gu, Jianping

2018-04-01

To review the clinical evidence for ultrasound-accelerated catheter-directed thrombolysis (UACDT) using the EKOS system in the treatment of deep vein thrombosis (DVT) in terms of case selection, procedural outcomes, clinical outcomes and safety outcomes. A systematic literature search strategy was used to identify the use of the EKOS system in the treatment of DVT using the following electronic databases: MEDLINE, EMBASE, the Cochrane databases and the Web of Science. The references in the relevant literature were also screened. Our literature search identified a total of 16 unique clinical studies. Twelve of the sixteen studies were retrospective case series studies. To date, only one randomised controlled trial (RCT) is available. Overall, UACDT using the EKOS system was performed 548 times in 512 patients. Among all cases, 77-100% achieved substantial lysis (> 50%) based on the different definitions of the individual studies. This treatment modality appears to be safe, as there were no reported procedure-related pulmonary embolisms (PE) and only one procedure-related death was reported. Bleeding events were reported in 14 of the 16 studies, and 3.9% (20/512) of the cases of bleeding were considered major. During the follow-up, post-thrombotic syndrome was observed in 17.1% (20/117) of cases. UACDT using the EKOS system is an effective, safe and promising treatment modality for DVT, but the existing clinical evidence is inadequate to make UACDT using the EKOS system the first-line choice for DVT. Additional prospective large-sample RCTs with long-term follow-ups are warranted to define the role of UACDT using the EKOS system in the treatment of DVT.

Canary TMA — EDRN Public Portal

Cancer.gov

This protocol describes a multi-center, retrospective, case-cohort tissue microarray (TMA) study to evaluate tissue biomarkers for their ability to predict recurrent prostate cancer at the time of radical prostatectomy (RP). Candidate biomarkers will be assessed by performing tissue localization studies on TMAs containing recurrent prostate cancer and non-recurrent prostate cancer. De-identified data will be transferred to a central repository for statistical analysis. Participating institutions will use a variation of case-cohort sampling to randomly select a subset of patients from a retrospectively constructed RP cohort and/or perform selected assays on the cohort. The study endpoint is time to recurrence; of primary interest is five year recurrence free survival. Recurrent prostate cancer is defined by 1) a single serum prostate-specific antigen (PSA) level greater than 0.2 ng/mL after RP and/or 2) receipt of salvage or secondary therapy after RP and/or 3) clinical or radiological evidence of metastatic disease. Non-recurrent prostate cancer is defined as disease with no evidence of recurrence.

Rupture of the meniscofibular ligament

PubMed Central

2010-01-01

The meniscofibular ligament is an anatomically defined ligament of the knee in humans. However, there are no data regarding the prognosis following injury to this ligament. Our case was a 42-year-old man who presented at our clinic with pain of the lateral side of his left knee. MRI of his left knee revealed the rupture of the meniscofibular ligament. The mechanism of injury was consistent with anatomical and mechanical studies of the meniscofibular ligament. The patient was treated conservatively for 1 year, but his pain did not resolve completely. A case series of patients with the same injury is required to establish an effective treatment for this rare injury. PMID:20478075

Human Cutaneous Protothecosis: Report of a Case and Literature Review

PubMed Central

Seok, Jae Yeon; Lee, Yoonho; Lee, Hyukmin; Yi, Sang Yeop; Oh, Hwa Eun

2013-01-01

The Prototheca species is achlorophyllic algae and rarely causes human infection. Human protothecosis presents clinically as a cutaneous infection, olecranon bursitis, and disseminated systemic disease. We report a case of human cutaneous protothecosis involving the left wrist. A 68-year-old man presented with an ill-defined erythematous lesion with crust at the dorsal aspect of his left wrist. A punch biopsy was performed to reveal the histologic features of granulomatous inflammation with necrosis at the upper dermis, containing Prototheca organisms, of which, the characteristic features were highlighted by special staining. Through a molecular study, the Prototheca zopfii species was identified. PMID:24421852

Intra Oral Fibrosarcoma with Various Histopathological Patterns: A Rare Case Report

PubMed Central

Reddy, A. Vikram Simha; Prakash, A. Ravi; Ram, V. Sai; Thorati, Rukmini Swathi

2015-01-01

Fibrosarcoma has been defined as a malignant mesenchymal tumour, the cells of which recapitulate the appearance of the normal fibroblast, with variable collagen production. Fibrosarcoma is a very uncommon tumour in the head and neck regions constituting only 0.05% of all the fibrosarcomas presenting in humans. They cause no characteristic symptoms and pose difficulty in clinical diagnosis. They have been classified histologically based on their distinct features into myxoid fibrosarcoma, low grade fibromyxoid fibrosarcoma and sclerosing epitheloid sarcoma. Here we present a rare case report of a 45-year-old male patient presenting with a maxillary fibrosarcoma, which histologically presented with different patterns. PMID:26393135

Multidetector computed tomography findings of central bronchopleural fistulas as sequelae of tuberculosis, chemo radiation and trauma: A report of three cases

PubMed Central

Yuksekkaya, Ruken; Ozturk, Banu; Celikyay, Fatih; Sade, Recep; Kupeli, Mustafa; Yeginsu, Ali

2013-01-01

A bronchopleural fistula (BPF) is defined as a direct pathway between the bronchial tree or lung parenchyma and the pleural space. Herein, we describe the clinical findings and imaging results of BPFs in three cases. The patients' medical histories revealed that the first had recurrent pulmonary tuberculosis, the second had small-cell lung cancer (SCLC) and had previously undergone chemoradiotherapy, and the third had trauma. Multidetector computed tomography (MDCT) showed clear communication between the airways and pleural spaces which was sufficient for a proper diagnosis without performing a bronchoscopy. PMID:26029624

Profound reduction of CD4+ lymphocytes without HIV infection: two cases from the horn of Africa.

PubMed

Ollé-Goig, J E; Ramírez, J; Cervera, C; Miró, J M

2012-09-01

Idiopathic CD4+ lymphocytopenia is a disorder associated with low CD4+ T cell count and opportunistic infections resembling AIDS. Most cases are described in developed countries. We report two HIV-negative patients with idiopathic CD4+ lymphocytopenia and AIDS-defining events diagnosed in Djibouti. The first patient developed lesions of Kaposi's sarcoma and the second one presented with pulmonary tuberculosis. Both patients died with severe immunodepression. In poor resource-areas where HIV testing may not be available it is important to bear in mind that severe immunodepression and a clinical presentation compatible with AIDS do not necessary carry the diagnosis of AIDS.

Epithelioid hemangioma of the spine: Two cases.

PubMed

O'Shea, Bendan M; Kim, Jinsuh

2014-01-01

We report two cases of epithelioid hemangioma (EH) manifested in the thoracic spine with associated clinical, radiographic, and pathological findings. Epithelioid hemangioma is a benign vascular tumor that can involve any bone (including the spine in a subset of patients). Although recognized as a benign tumor by the WHO, it can display locally aggressive features. Within the spine, these features may lead to pain, instability, and/or neurologic dysfunction. The radiographic appearance is most typically that of a lytic, well-defined lesion on plain film or CT. The MRI appearance is typically hypointense on T1WI, hyperintense on T2WI, and avidly enhancing, often with an extraosseous soft-tissue component.

[Rhytidectomy and Raynaud's phenomenon: about two cases].

PubMed

Nicolas, J; Labbé, D

2004-12-01

Raynaud's phenomenon is a currently vascular syndrome (8 to 10% of women and 3 to 5% of men). It was defined as episodic ischaemia of the fingers, toes, nose, ears and nipples, which presents clinically as pallor, cyanosis, and often rubor of the skins, in response to cold, emotional stimuli and vasoconstriction agents. The phenomenon is caused by a vasoconstriction of arterials skin. In severe forms of the phenomenon, we can see ulcerations and necrosis. We report here two cases of rhytidectomy flap necrosis in Raynaud's Phenomenon. After review of literature, we explain the elements of physiopathology whose can explain these complications and we try to establish recommendations to these complications.

Modelling Conditions and Health Care Processes in Electronic Health Records: An Application to Severe Mental Illness with the Clinical Practice Research Datalink

PubMed Central

Olier, Ivan; Springate, David A.; Ashcroft, Darren M.; Doran, Tim; Reeves, David; Planner, Claire; Reilly, Siobhan; Kontopantelis, Evangelos

2016-01-01

Background The use of Electronic Health Records databases for medical research has become mainstream. In the UK, increasing use of Primary Care Databases is largely driven by almost complete computerisation and uniform standards within the National Health Service. Electronic Health Records research often begins with the development of a list of clinical codes with which to identify cases with a specific condition. We present a methodology and accompanying Stata and R commands (pcdsearch/Rpcdsearch) to help researchers in this task. We present severe mental illness as an example. Methods We used the Clinical Practice Research Datalink, a UK Primary Care Database in which clinical information is largely organised using Read codes, a hierarchical clinical coding system. Pcdsearch is used to identify potentially relevant clinical codes and/or product codes from word-stubs and code-stubs suggested by clinicians. The returned code-lists are reviewed and codes relevant to the condition of interest are selected. The final code-list is then used to identify patients. Results We identified 270 Read codes linked to SMI and used them to identify cases in the database. We observed that our approach identified cases that would have been missed with a simpler approach using SMI registers defined within the UK Quality and Outcomes Framework. Conclusion We described a framework for researchers of Electronic Health Records databases, for identifying patients with a particular condition or matching certain clinical criteria. The method is invariant to coding system or database and can be used with SNOMED CT, ICD or other medical classification code-lists. PMID:26918439

Evaluation of an influenza-like illness case definition in the diagnosis of influenza among patients with acute febrile illness in Cambodia.

PubMed

Kasper, Matthew R; Wierzba, Thomas F; Sovann, Ly; Blair, Patrick J; Putnam, Shannon D

2010-11-07

Influenza-like illness (ILI) is often defined as fever (>38.0°C) with cough or sore throat. In this study, we tested the sensitivity, specificity, and positive and negative predictive values of this case definition in a Cambodia patient population. Passive clinic-based surveillance was established at nine healthcare centers to identify the causes of acute undifferentiated fever in patients aged two years and older seeking treatment. Fever was defined as tympanic membrane temperature >38°C lasting more than 24 hours and less than 10 days. Influenza virus infections were identified by polymerase chain reaction. From July 2008 to December 2008, 2,639 patients were enrolled. From 884 (33%) patients positive for influenza, 652 presented with ILI and 232 acute fever patients presented without ILI. Analysis by age group identified no significant differences between influenza positive patients from the two groups. Positive predictive values (PPVs) varied during the course of the influenza season and among age groups. The ILI case definition can be used to identify a significant percentage of patients with influenza infection during the influenza season in Cambodia, assisting healthcare providers in its diagnosis and treatment. However, testing samples based on the criteria of fever alone increased our case detection by 34%.

Framing in policy processes: a case study from hospital planning in the National Health Service in England.

PubMed

Jones, Lorelei; Exworthy, Mark

2015-01-01

This paper reports from an ethnographic study of hospital planning in England undertaken between 2006 and 2009. We explored how a policy to centralise hospital services was espoused in national policy documents, how this shifted over time and how it was translated in practice. We found that policy texts defined hospital planning as a clinical issue and framed decisions to close hospitals or hospital departments as based on the evidence and necessary to ensure safety. We interpreted this framing as a rhetorical strategy for implementing organisational change in the context of community resistance to service closure and a concomitant policy emphasising the importance of public and patient involvement in planning. Although the persuasive power of the framing was limited, a more insidious form of power was identified in the way the framing disguised the political nature of the issue by defining it as a clinical problem. We conclude by discussing how the clinical rationale constrains public participation in decisions about the delivery and organisation of healthcare and restricts the extent to which alternative courses of action can be considered. Copyright © 2014 Elsevier Ltd. All rights reserved.

Risk Factors for Human Brucellosis in Northern Tanzania.

PubMed

Cash-Goldwasser, Shama; Maze, Michael J; Rubach, Matthew P; Biggs, Holly M; Stoddard, Robyn A; Sharples, Katrina J; Halliday, Jo E B; Cleaveland, Sarah; Shand, Michael C; Mmbaga, Blandina T; Muiruri, Charles; Saganda, Wilbrod; Lwezaula, Bingileki F; Kazwala, Rudovick R; Maro, Venance P; Crump, John A

2018-02-01

Little is known about the epidemiology of human brucellosis in sub-Saharan Africa. This hampers prevention and control efforts at the individual and population levels. To evaluate risk factors for brucellosis in northern Tanzania, we conducted a study of patients presenting with fever to two hospitals in Moshi, Tanzania. Serum taken at enrollment and at 4-6 week follow-up was tested by Brucella microagglutination test. Among participants with a clinically compatible illness, confirmed brucellosis cases were defined as having a ≥ 4-fold rise in agglutination titer between paired sera or a blood culture positive for Brucella spp., and probable brucellosis cases were defined as having a single reciprocal titer ≥ 160. Controls had reciprocal titers < 20 in paired sera. We collected demographic and clinical information and administered a risk factor questionnaire. Of 562 participants in the analysis, 50 (8.9%) had confirmed or probable brucellosis. Multivariable analysis showed that risk factors for brucellosis included assisting goat or sheep births (Odds ratio [OR] 5.9, 95% confidence interval [CI] 1.4, 24.6) and having contact with cattle (OR 1.2, 95% CI 1.0, 1.4). Consuming boiled or pasteurized dairy products was protective against brucellosis (OR 0.12, 95% CI 0.02, 0.93). No participants received a clinical diagnosis of brucellosis from their healthcare providers. The under-recognition of brucellosis by healthcare workers could be addressed with clinician education and better access to brucellosis diagnostic tests. Interventions focused on protecting livestock keepers, especially those who assist goat or sheep births, are needed.

Clinical and radiological analysis of a series of periapical cysts and periapical granulomas diagnosed in a Brazilian population.

PubMed

Tavares, Daniel-Petitet; Rodrigues, Janderson-Teixeira; Dos Santos, Teresa-Cristina-Ribeiro-Bartholomeu; Armada, Luciana; Pires, Fábio-Ramôa

2017-01-01

Periapical cysts (PC) and periapical granulomas (PG) are the two most common chronic inflammatory periapical diseases, but their clinicoradiological characteristics can vary depending on the methods employed in each study. The aim of the present work was to analyze the clinical and radiological profile of a series of PC and PG diagnosed in a Brazilian population. The files of two Oral Pathology laboratories were reviewed and all cases diagnosed as PG and PC were selected for the study. Clinical and radiological information were retrieved and data were tabulated and descriptively and comparatively analyzed. Final sample was composed by 647 inflammatory periapical lesions, including 244 PG (38%) and 403 PC (62%). The number of women affected by PG was significantly higher than the number of women affected by PC ( p =0.037). Anterior region of the maxilla was the most common affected area for both entities (39% of the cases), but the most common anatomical location of PG (anterior maxilla and posterior maxilla) was different from PC (anterior maxilla and posterior mandible) ( p <0.0001). Upper lateral incisor was the most affected tooth. The mean radiological size of the PC was larger than the mean radiological size of the PG ( p <0.0001) and PC showed well-defined radiological images more frequently than PG ( p <0.0001). PC were more common than PG, both showed predilection for adult females, most lesions affected predominantly the anterior maxilla and PC presented larger mean radiological diameter and well-defined images when compared with PG. Key words: Periapical granuloma, periapical cyst, radicular cyst, diagnosis, Oral Pathology.

Nodular hidradenocarcinoma on the scalp of a young woman: case report and review of literature.

PubMed

Ohta, Masayoshi; Hiramoto, Michiaki; Fujii, Miki; Togo, Takeshi

2004-09-01

Nodular hidradenocarcinoma was first reported as clear-cell eccrine carcinoma by Keasby and Hadley in 1954 (Cancer 1954;7:934-52) and rare malignant tumor. Several synonyms and related terms for nodular hidradenocarcinoma have appeared in the literature. They have potential for uncontrollable local recurrence, tend to metastasize, and often cause death. Most cases have been reported in the pathology literature with limited clinical information. We report a 27-year-old woman with nodular hidradenocarcinoma on the scalp. The management of rare cases is not well defined. In our case, she was only treated with a wide local excision, and no recurrence was observed 2 years after excision. Most authors have concluded that early wide surgical excision of the tumor is the treatment of choice. The efficiency of adjuvant therapy generally has not established.

Treatment abandonment in feline sporotrichosis - study of 147 cases.

PubMed

Chaves, A R; de Campos, M P; Barros, M B L; do Carmo, C N; Gremião, I D F; Pereira, S A; Schubach, T M P

2013-03-01

This study describes the epidemiological, clinical and mycological aspects of feline sporotrichosis cases attending the Laboratory of Clinical Research on Dermatozoonosis in Domestic Animals - Evandro Chagas Clinical Research Institute (LAPCLIN-DERMZOO/IPEC/FIOCRUZ), from 1998 to 2005. It was possible to get in contact with 147 (19.2%) cat owners. One hundred and thirteen (76.9%) cats were male, 117 (79.6%) had no defined race and 87 (59.2%) were sexually intact. The age ranged from 72 to 216 months (median = 108 months). Nineteen cats were reassessed: eleven (57.8%) were male, thirteen (36.8%) were breed and fifteen (47.3%) castrated. Fourteen (52.6%) animals lived at home and did not roamed the streets. Seven (36.8%) had normal clinical findings and negative mycological examination. Twelve (63.1%) cats had skin lesions compatible with sporotrichosis. Thirty-one (21%, n = 147) cats disappeared after abandoning treatment, 36 (24.5%, n = 147) were alive and 80 (54.4%, n = 147) had died. Causes of death informed by the owners were: sporotrichosis in 35 (43.7%, n = 80), accidental death in 27 (33.7%, n = 80) and other diseases in 18 (22.5%, n = 80). Withdrawal of treatment occurred mainly at the time of clinical improvement and may represent a serious obstacle to the control of sporotrichosis. © 2012 Blackwell Verlag GmbH.

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents.

PubMed

Leigh, Margaret W; Ferkol, Thomas W; Davis, Stephanie D; Lee, Hye-Seung; Rosenfeld, Margaret; Dell, Sharon D; Sagel, Scott D; Milla, Carlos; Olivier, Kenneth N; Sullivan, Kelli M; Zariwala, Maimoona A; Pittman, Jessica E; Shapiro, Adam J; Carson, Johnny L; Krischer, Jeffrey; Hazucha, Milan J; Knowles, Michael R

2016-08-01

Primary ciliary dyskinesia (PCD), a genetically heterogeneous, recessive disorder of motile cilia, is associated with distinct clinical features. Diagnostic tests, including ultrastructural analysis of cilia, nasal nitric oxide measurements, and molecular testing for mutations in PCD genes, have inherent limitations. To define a statistically valid combination of systematically defined clinical features that strongly associates with PCD in children and adolescents. Investigators at seven North American sites in the Genetic Disorders of Mucociliary Clearance Consortium prospectively and systematically assessed individuals (aged 0-18 yr) referred due to high suspicion for PCD. The investigators defined specific clinical questions for the clinical report form based on expert opinion. Diagnostic testing was performed using standardized protocols and included nasal nitric oxide measurement, ciliary biopsy for ultrastructural analysis of cilia, and molecular genetic testing for PCD-associated genes. Final diagnoses were assigned as "definite PCD" (hallmark ultrastructural defects and/or two mutations in a PCD-associated gene), "probable/possible PCD" (no ultrastructural defect or genetic diagnosis, but compatible clinical features and nasal nitric oxide level in PCD range), and "other diagnosis or undefined." Criteria were developed to define early childhood clinical features on the basis of responses to multiple specific queries. Each defined feature was tested by logistic regression. Sensitivity and specificity analyses were conducted to define the most robust set of clinical features associated with PCD. From 534 participants 18 years of age and younger, 205 were identified as having "definite PCD" (including 164 with two mutations in a PCD-associated gene), 187 were categorized as "other diagnosis or undefined," and 142 were defined as having "probable/possible PCD." Participants with "definite PCD" were compared with the "other diagnosis or undefined" group. Four criteria-defined clinical features were statistically predictive of PCD: laterality defect; unexplained neonatal respiratory distress; early-onset, year-round nasal congestion; and early-onset, year-round wet cough (adjusted odds ratios of 7.7, 6.6, 3.4, and 3.1, respectively). The sensitivity and specificity based on the number of criteria-defined clinical features were four features, 0.21 and 0.99, respectively; three features, 0.50 and 0.96, respectively; and two features, 0.80 and 0.72, respectively. Systematically defined early clinical features could help identify children, including infants, likely to have PCD. Clinical trial registered with ClinicalTrials.gov (NCT00323167).

[Solitary nodular sarcoidosis demonstrating reversed tuberculin skin reaction].

PubMed

Osoreda, Hisayuki; Kobayashi, Hideo; Kanoh, Soichiro; Motoyoshi, Kazuo

2008-08-01

A 29-year-old woman was admitted because of chest radiograph abnormality. She had no respiratory complaints. Chest CT demonstrated an ill-defined nodule of 20mm with the "sarcoid galaxy sign" in the right upper lobe. Transbronchial biopsy (TBB) specimens from right S2 revealed non-caseating epithelioid cell granuloma. Initial clinical findings suggested mycobacterial infection. However, while waiting for the results of mycobacterial cultures in bronchial washing fluid, the tuberculin skin reaction was found to be negative, and enlargement of nodule, mediastinal lymphadenopathy and elevated soluble IL-2R were observed. Cultures for mycobacterium were negative and repeat TBB specimens revealed granulomatous inflammation. We diagnosed with sarcoidosis based on these findings. Solitary nodular sarcoidosis is rare with only 17 cases having been reported. These cases were diagnosed with difficulty because of non-specific clinical findings and of the 17, 16 cases (94%) were diagnosed by surgical procedures. We observed the clinico-radiological course of solitary nodules and the change in tuberculin reaction. Although a negative tuberculin skin reaction was commonly recognized in sarcoidosis patients, we confirmed that initial positive tuberculin reaction changed to negative according to disease progress. To the best of our knowledge, this is the first case report in adults.

Terminal sedation and euthanasia: a comparison of clinical practices.

PubMed

Rietjens, Judith A C; van Delden, Johannes J M; van der Heide, Agnes; Vrakking, Astrid M; Onwuteaka-Philipsen, Bregje D; van der Maas, Paul J; van der Wal, Gerrit

2006-04-10

An important issue in the debate about terminal sedation is the extent to which it differs from euthanasia. We studied clinical differences and similarities between both practices in the Netherlands. Personal interviews were held with a nationwide stratified sample of 410 physicians (response rate, 85%) about the most recent cases in which they used terminal sedation, defined as administering drugs to keep the patient continuously in deep sedation or coma until death without giving artificial nutrition or hydration (n = 211), or performed euthanasia, defined as administering a lethal drug at the request of a patient with the explicit intention to hasten death (n = 123). We compared characteristics of the patients, the decision-making process, and medical care of both practices. Terminal sedation and euthanasia both mostly concerned patients with cancer. Patients receiving terminal sedation were more often anxious (37%) and confused (24%) than patients receiving euthanasia (15% and 2%, respectively). Euthanasia requests were typically related to loss of dignity and a sense of suffering without improving, whereas requesting terminal sedation was more often related to severe pain. Physicians applying terminal sedation estimated that the patient's life had been shortened by more than 1 week in 27% of cases, compared with 73% in euthanasia cases. Terminal sedation and euthanasia both are often applied to address severe suffering in terminally ill patients. However, terminal sedation is typically used to address severe physical and psychological suffering in dying patients, whereas perceived loss of dignity during the last phase of life is a major problem for patients requesting euthanasia.

Investigation of Bioterrorism-Related Anthrax, United States, 2001: Epidemiologic Findings

PubMed Central

Raghunathan, Pratima L.; Bell, Beth P.; Brechner, Ross; Bresnitz, Eddy A.; Butler, Jay C.; Cetron, Marty; Cohen, Mitch; Doyle, Timothy; Fischer, Marc; Greene, Carolyn; Griffith, Kevin S.; Guarner, Jeannette; Hadler, James L.; Hayslett, James A.; Meyer, Richard; Petersen, Lyle R.; Phillips, Michael; Pinner, Robert; Popovic, Tanja; Quinn, Conrad P.; Reefhuis, Jennita; Reissman, Dori; Rosenstein, Nancy; Schuchat, Anne; Shieh, Wun-Ju; Siegal, Larry; Swerdlow, David L.; Tenover, Fred C.; Traeger, Marc; Ward, John W.; Weisfuse, Isaac; Wiersma, Steven; Yeskey, Kevin; Zaki, Sherif; Ashford, David A.; Perkins, Bradley A.; Ostroff, Steve; Hughes, James; Fleming, David; Koplan, Jeffrey P.; Gerberding, Julie L.

2002-01-01

In October 2001, the first inhalational anthrax case in the United States since 1976 was identified in a media company worker in Florida. A national investigation was initiated to identify additional cases and determine possible exposures to Bacillus anthracis. Surveillance was enhanced through health-care facilities, laboratories, and other means to identify cases, which were defined as clinically compatible illness with laboratory-confirmed B. anthracis infection. From October 4 to November 20, 2001, 22 cases of anthrax (11 inhalational, 11 cutaneous) were identified; 5 of the inhalational cases were fatal. Twenty (91%) case-patients were either mail handlers or were exposed to worksites where contaminated mail was processed or received. B. anthracis isolates from four powder-containing envelopes, 17 specimens from patients, and 106 environmental samples were indistinguishable by molecular subtyping. Illness and death occurred not only at targeted worksites, but also along the path of mail and in other settings. Continued vigilance for cases is needed among health-care providers and members of the public health and law enforcement communities. PMID:12396909

Validation of a surveillance case definition for arthritis.

PubMed

Sacks, Jeffrey J; Harrold, Leslie R; Helmick, Charles G; Gurwitz, Jerry H; Emani, Srinivas; Yood, Robert A

2005-02-01

To assess whether self-reports of chronic joint symptoms or doctor-diagnosed arthritis can validly identify persons with clinically verifiable arthritis. The Behavioral Risk Factor Surveillance System (BRFSS), a telephone health survey, defines a case of arthritis as a self-report of chronic joint symptoms (CJS) and/or doctor-diagnosed arthritis (DDx). A sample of health plan enrollees aged 45-64 years and >/= 65 years with upcoming annual physical examinations were surveyed by telephone using the 2002 BRFSS CJS and DDx questions. Based on responses (CJS+, DDx-; CJS-, DDx+; CJS+, DDx+; CJS-, DDx-), respondents were recruited to undergo a standardized clinical history and physical examination for arthritis (the gold standard for clinical validation). Weighted sensitivities and specificities of the case definition were calculated to adjust for sampling. Of 2180 persons completing the telephone questionnaire, 389 were examined; of these, 258 met the case definition and 131 did not. For those examined and aged 45 to 64 years (n = 179), 96 persons had arthritis confirmed, of whom 76 met the case definition. Among those examined and aged >/= 65 (n = 210), 150 had arthritis confirmed, of whom 124 met the case definition. Among those without clinical arthritis, 45 of 83 of those aged 45 to 64 years and 40 of 60 of those aged >/= 65 did not meet the case definition. For those aged 45 to 64 years, the weighted sensitivity of the case definition in this sample was 77.4% and the weighted specificity was 58.8%; for those aged >/= 65, the sensitivity was 83.6% and specificity 70.6%. CJS+ had higher sensitivity and lower specificity than DDx+ in the younger age group; CJS+ and DDx+ behaved more comparably in the older age group. The case definition based on self-reported CJS and/or DDx appeared to be sensitive in identifying arthritis, but specificity was lower than desirable for those under age 65 years. Better methods of ascertaining arthritis by self-report are needed. Until then, a change in the surveillance case definition for arthritis appears warranted.

Common Data Elements for Clinical Research in Friedreich Ataxia

PubMed Central

Lynch, David R.; Pandolfo, Massimo; Schulz, Jorg B.; Perlman, Susan; Delatycki, Martin B.; Payne, R. Mark; Shaddy, Robert; Fischbeck, Kenneth H.; Farmer, Jennifer; Kantor, Paul; Raman, Subha V.; Hunegs, Lisa; Odenkirchen, Joanne; Miller, Kristy; Kaufmann, Petra

2012-01-01

Background To reduce study start-up time, increase data sharing, and assist investigators conducting clinical studies, the National Institute of Neurological Disorders and Stroke embarked on an initiative to create common data elements for neuroscience clinical research. The Common Data Element Team developed general common data elements which are commonly collected in clinical studies regardless of therapeutic area, such as demographics. In the present project, we applied such approaches to data collection in Friedreich ataxia, a neurological disorder that involves multiple organ systems. Methods To develop Friedreich’s ataxia common data elements, Friedreich’s ataxia experts formed a working group and subgroups to define elements in: Ataxia and Performance Measures; Biomarkers; Cardiac and Other Clinical Outcomes; and Demographics, Laboratory Tests and Medical History. The basic development process included: Identification of international experts in Friedreich’s ataxia clinical research; Meeting via teleconference to develop a draft of standardized common data elements recommendations; Vetting of recommendations across the subgroups; Dissemination of recommendations to the research community for public comment. Results The full recommendations were published online in September 2011 at http://www.commondataelements.ninds.nih.gov/FA.aspx. The Subgroups’ recommendations are classified as core, supplemental or exploratory. Template case report forms were created for many of the core tests. Conclusions The present set of data elements should ideally lead to decreased initiation time for clinical research studies and greater ability to compare and analyze data across studies. Their incorporation into new and ongoing studies will be assessed in an ongoing fashion to define their utility in Friedreich’s ataxia. PMID:23239403

Making Basic Science Studies in Glaucoma More Clinically Relevant: The Need for a Consensus.

PubMed

Toris, Carol B; Gelfman, Claire; Whitlock, Andy; Sponsel, William E; Rowe-Rendleman, Cheryl L

2017-09-01

Glaucoma is a chronic, progressive, and debilitating optic neuropathy that causes retinal damage and visual defects. The pathophysiologic mechanisms of glaucoma remain ill-defined, and there is an indisputable need for contributions from basic science researchers in defining pathways for translational research. However, glaucoma researchers today face significant challenges due to the lack of a map of integrated pathways from bench to bedside and the lack of consensus statements to guide in choosing the right research questions, techniques, and model systems. Here, we present the case for the development of such maps and consensus statements, which are critical for faster development of the most efficacious glaucoma therapy. We underscore that interrogating the preclinical path of both successful and unsuccessful clinical programs is essential to defining future research. One aspect of this is evaluation of available preclinical research tools. To begin this process, we highlight the utility of currently available animal models for glaucoma and emphasize that there is a particular need for models of glaucoma with normal intraocular pressure. In addition, we outline a series of discoveries from cell-based, animal, and translational research that begin to reveal a map of glaucoma from cell biology to physiology to disease pathology. Completion of these maps requires input and consensus from the global glaucoma research community. This article sets the stage by outlining various approaches to such a consensus. Together, these efforts will help accelerate basic science research, leading to discoveries with significant clinical impact for people with glaucoma.

Predictive factors of flares in systemic lupus erythematosus patients: data from a multiethnic Latin American cohort.

PubMed

Ugarte-Gil, M F; Wojdyla, D; Pastor-Asurza, C A; Gamboa-Cárdenas, R V; Acevedo-Vásquez, E M; Catoggio, L J; García, M A; Bonfá, E; Sato, E I; Massardo, L; Pascual-Ramos, V; Barile, L A; Reyes-Llerena, G; Iglesias-Gamarra, A; Molina-Restrepo, J F; Chacón-Díaz, R; Alarcón, G S; Pons-Estel, B A

2018-04-01

Purpose The purpose of this paper is to determine the factors predictive of flares in systemic lupus erythematosus (SLE) patients. Methods A case-control study nested within the Grupo Latino Americano De Estudio de Lupus (GLADEL) cohort was conducted. Flare was defined as an increase ≥4 points in the SLEDAI. Cases were defined as patients with at least one flare. Controls were selected by matching cases by length of follow-up. Demographic and clinical manifestations were systematically recorded by a common protocol. Glucocorticoid use was recorded as average daily dose of prednisone and antimalarial use as percentage of time on antimalarial and categorized as never (0%), rarely (>0-25%), occasionally (>25%-50%), commonly (˃50%-75%) and frequently (˃75%). Immunosuppressive drugs were recorded as used or not used. The association between demographic, clinical manifestations, therapy and flares was examined using univariable and multivariable conditional logistic regression models. Results A total of 465 cases and controls were included. Mean age at diagnosis among cases and controls was 27.5 vs 29.9 years, p = 0.003; gender and ethnic distributions were comparable among both groups and so was the baseline SLEDAI. Independent factors protective of flares identified by multivariable analysis were older age at diagnosis (OR = 0.929 per every five years, 95% CI 0.869-0.975; p = 0.004) and antimalarial use (frequently vs never, OR = 0.722, 95% CI 0.522-0.998; p = 0.049) whereas azathioprine use (OR = 1.820, 95% CI 1.309-2.531; p < 0.001) and SLEDAI post-baseline were predictive of them (OR = 1.034, 95% CI 1.005-1.064; p = 0.022). Conclusions In this large, longitudinal Latin American cohort, older age at diagnosis and more frequent antimalarial use were protective whereas azathioprine use and higher disease activity were predictive of flares.

Factors Associated with Anti-Tuberculosis Medication Adverse Effects: A Case-Control Study in Lima, Peru

PubMed Central

Chung-Delgado, Kocfa; Revilla-Montag, Alejandro; Guillen-Bravo, Sonia; Velez-Segovia, Eduardo; Soria-Montoya, Andrea; Nuñez-Garbin, Alexandra; Silva-Caso, Wilmer; Bernabe-Ortiz, Antonio

2011-01-01

Background Long-term exposure to anti-tuberculosis medication increases risk of adverse drug reactions and toxicity. The objective of this investigation was to determine factors associated with anti-tuberculosis adverse drug reactions in Lima, Peru, with special emphasis on MDR-TB medication, HIV infection, diabetes, age and tobacco use. Methodology and Results A case-control study was performed using information from Peruvian TB Programme. A case was defined as having reported an anti-TB adverse drug reaction during 2005–2010 with appropriate notification on clinical records. Controls were defined as not having reported a side effect, receiving anti-TB therapy during the same time that the case had appeared. Crude, and age- and sex-adjusted models were calculated using odds ratios (OR) and 95% confidence intervals (95%CI). A multivariable model was created to look for independent factors associated with side effect from anti-TB therapy. A total of 720 patients (144 cases and 576 controls) were analyzed. In our multivariable model, age, especially those over 40 years (OR = 3.93; 95%CI: 1.65–9.35), overweight/obesity (OR = 2.13; 95%CI: 1.17–3.89), anemia (OR = 2.10; IC95%: 1.13–3.92), MDR-TB medication (OR = 11.1; 95%CI: 6.29–19.6), and smoking (OR = 2.00; 95%CI: 1.03–3.87) were independently associated with adverse drug reactions. Conclusions Old age, anemia, MDR-TB medication, overweight/obesity status, and smoking history are independent risk factors associated with anti-tuberculosis adverse drug reactions. Patients with these risk factors should be monitored during the anti-TB therapy. A comprehensive clinical history and additional medical exams, including hematocrit and HIV-ELISA, might be useful to identify these patients. PMID:22110689

Retrospective study for risk factors for febrile UTI in spinal cord injury patients with routine concomitant intermittent catheterization in outpatient settings.

PubMed

Mukai, S; Shigemura, K; Nomi, M; Sengoku, A; Yamamichi, F; Fujisawa, M; Arakawa, S

2016-01-01

Retrospective study. The objective of this study was to investigate the clinical risk factors for febrile urinary tract infection (UTI) in spinal cord injury-associated neurogenic bladder (NB) patients who perform routine clean intermittent catheterization (CIC). Rehabilitation Hospital, Kobe, Japan. Over a 3-year period, we retrospectively assessed the clinical risk factors for febrile UTI in 259 spinal cord injury patients diagnosed as NB and performing routine CIC with regard to the factors such as gender, the presence of pyuria and bacteriuria, and the categories of the American Spinal Injury Association (ASIA) impairment scale. A total of 67 patients had febrile UTI in the follow-up period, with 57 cases of pyelonephritis, 11 cases of epididymitis and 2 cases of prostatitis, including the patients with plural infectious diseases. The causative bacteria were ranked as follows: Escherichia coli (74 cases), Pseudomonas aeruginosa (17 cases), Enterococcus faecalis (14 cases) and Klebsiella pneumoniae (12 cases). Antibiotic-resistant E. coli were seen, with 10.5% instances of extended-spectrum β-lactamase (ESBL) production and 23.8% of fluoroquinolone resistance. Multivariate analyses of clinical risk factors for febrile UTI showed that gender (male, P=0.0431), and ASIA impairment scale C or more severe (P=0.0266) were significantly associated with febrile UTI occurrence in NB patients with routine CIC. Our data demonstrated gender (male) and ASIA impairment scale C or more severe were significantly associated with febrile UTI occurrence in NB patients using routine CIC. Further prospective studies are necessary to define the full spectrum of possible risk factors for febrile UTI in these patients.

Pre-radiographic MRI findings are associated with onset of knee symptoms: the most study

PubMed Central

Javaid, M. K.; Lynch, J. A.; Tolstykh, I.; Guermazi, A.; Roemer, F.; Aliabadi, P.; McCulloch, C.; Curtis, J.; Felson, D.; Lane, N. E.; Torner, J.; Nevitt, M.

2010-01-01

Summary Objective Magnetic resonance imaging (MRI) has greater sensitivity to detect osteoarthritis (OA) damage than radiographs but it is uncertain which MRI findings in early OA are clinically important. We examined MRI abnormalities detected in knees without radiographic OA and their association with incident knee symptoms. Method Participants from the Multicenter Osteoarthritis Study (MOST) without frequent knee symptoms (FKS) at baseline were eligible if they also lacked radiographic features of OA at baseline. At 15 months, knees that developed FKS were defined as cases while control knees were drawn from those that remained without FKS. Baseline MRIs were scored at each subregion for cartilage lesions (CARTs); osteophytes (OST); bone marrow lesions (BML) and cysts. We compared cases and controls using marginal logistic regression models, adjusting for age, gender, race, body mass index (BMI), previous injury and clinic site. Results 36 case knees and 128 control knees were analyzed. MRI damage was common in both cases and controls. The presence of a severe CART (P = 0.03), BML (P = 0.02) or OST (P = 0.02) in the whole knee joint was more common in cases while subchondral cysts did not differ significantly between cases and controls (P > 0.1). Case status at 15 months was predicted by baseline damage at only two locations; a BML in the lateral patella (P = 0.047) and at the tibial subspinous subregions (P = 0.01). Conclusion In knees without significant symptoms or radiographic features of OA, MRI lesions of OA in only a few specific locations preceded onset of clinical symptoms and suggest that changes in bone play a role in the early development of knee pain. Confirmation of these findings in other prospective studies of knee OA is warranted. PMID:19919856

The role of tumor board conferences in neuro-oncology: a nationwide provider survey.

PubMed

Snyder, James; Schultz, Lonni; Walbert, Tobias

2017-05-01

The tumor board or multidisciplinary cancer meeting (MCM) is the foundation of high value multidisciplinary oncology care, coordinating teams of specialists. Little is known on how these meetings are implemented in Neuro-oncology. Benefits of MCMs include coordination, direction for complicated cases, education, and a forum for communication, emerging technology, and clinical trials. This study identifies participation and utilization of neuro-oncology MCMs. A cross-sectional descriptive survey was dispersed through an internet questionnaire. The Society of Neuro-Oncology and the American Brain Tumor Association provided a list of dedicated neuro-oncology centers. All National Cancer Institute designated centers, and participants in the Adult Brain Tumor Consortium or the Brain Tumor Trials Collaborative were included, identifying 85 centers. Discussion included primary brain tumors (100%), challenging cases (98%), recurrent disease (96%), neoplastic spine disease (93%), metastatic brain lesions (89%), pre-surgical cases (82%), pathology (76%), and paraneoplastic disease (40%). MCMs were composed of neuro-oncologists, neurosurgeons, and radiation oncologists (100%), radiologists (98%), pathologists (96%), and clinical trial participants (64%). Individual preparation ranged from 15 to 300 min. MCMs were valued for clinical decision making (94%), education (89%), and access to clinical trials (69%). 13% documented MCMs in the medical record. 38% of centers used a molecular tumor board; however, many commented with uncertainty as to how this is defined. Neuro-oncology MCMs at leading U.S. institutions demonstrate congruity of core disciplines, cases discussed, and perceived value. We identified variability in preparation time and implementation of MCM recommendations. There is high uncertainty as to the definition and application of a molecular tumor board.

IgV H mutations in blastoid mantle cell lymphoma characterize a subgroup with a tendency to more favourable clinical outcome.

PubMed

Cogliatti, Sergio B; Bertoni, Francesco; Zimmermann, Dieter R; Henz, Samuel; Diss, Tim C; Ghielmini, Michele; Schmid, Ulrico

2005-07-01

Mantle cell lymphoma (MCL) is associated with a very unfavourable clinical course. This is particularly true for mantle cell lymphoma of the blastoid subtype (MCL-b). In order to define prognostic factors, we analysed the impact of immunoglobulin heavy chain variable (IgV H) gene somatic hypermutations on clinical outcome in a series of 21 cases of morphologically, phenotypically, and genotypically well-characterized MCL-b. Testing and estimation were performed using log-rank statistics and displayed on Kaplan-Meier graphs. Thirteen of 21 cases of MCL-b revealed a homology rate of > or = 99% compared to IgV H germ-line sequences in the databases and were scored as non-mutated. Eight of 21 cases (38%) of MCL-b were mutated. In MCL-b the mutation frequency was usually low and the mutation pattern was only rarely antigen-selected, in contrast to a control group of 11 cases with morphologically almost identical, but phenotypically and genotypically clearly distinguishable, diffuse large B cell lymphoma, derived, most likely, from germinal centre B cells. In our series of 21 MCL-b, positive IgV H mutational status, irrespective of varying homology thresholds, had no statistically significant prognostic impact on event-free or overall survival. However, mutated MCL-b tended to present more frequently at an earlier stage and without bone marrow involvement and to show lower rates of relapse and death, resulting in a more favourable clinical outcome. Copyright 2005 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

Clinical impact of second opinion in thyroid fine needle aspiration cytology (FNAC): A study of 922 interinstitutional consultations.

PubMed

Bajaj, Jaya; Morgenstern, Nora; Sugrue, Chiara; Wasserman, Jason; Wasserman, Patricia

2012-05-01

Interinstitutional consultation in pathology has shown to improve patient safety by detecting interpretive errors that may significantly impact clinical management. We conducted a study of 922 cases of thyroid FNAC slides, referred to our institution over a 2-year period, to assess the magnitude of discrepancies and determine the clinical impact of second opinion. Disagreements were categorized as none, minor or major, the latter two defined as one- or two-step deviations respectively on the NCI diagnostic categories scale. There were 122 disagreements (13%), including 44 major and 78 minor. Seventy-five patients underwent a change in management based on second opinion, in conjunction with clinical and radiologic findings (age, size of nodule, family history, ultrasonographic appearance, and solitary versus multiple nodules). The second opinion was supported on follow-up in 57% of major discrepancies, and the initial diagnosis was concurrent with the surgical diagnosis in 7% cases. The remainder (36%) of major discrepancy cases did not undergo surgery, precluding tissue confirmation. Critics have alleged increased costs due to interinstitutional consultations. However, cost avoidance from lost wages, potential surgical complications, and litigation is not easily quantified. Using a simplified calculation to objectively measure the costs associated with changed diagnoses, we estimate that second opinion of these 922 cases resulted in potential cost saving of $940,166 based on current Medicare reimbursement codes. Our study indicates the need for a quality-control program of outside thyroid FNA slides, especially in "high discrepancy categories" as discussed in the article. Copyright © 2011 Wiley-Liss, Inc.

Vitamin E in human skin: organ-specific physiology and considerations for its use in dermatology.

PubMed

Thiele, Jens J; Ekanayake-Mudiyanselage, Swarna

2007-01-01

Vitamin E has been used for more than 50 years in experimental and clinical dermatology. While a large number of case reports were published in this time, there is still a lack of controlled clinical studies providing a rationale for well defined dosages and clinical indications. In contrast, advances in basic research on the physiology, mechanism of action, penetration, bioconversion and photoprotection of vitamin E in human skin has led to the development of numerous new formulations for use in cosmetics and skin care products. This article reviews basic mechanisms and possible cosmetic as well as clinical implications of the recent advances in cutaneous vitamin E research. Experimental evidence suggests that topical and oral vitamin E has antitumorigenic, photoprotective, and skin barrier stabilizing properties. While the current use of vitamin E is largely limited to cosmetics, controlled clinical studies for indications such as atopic dermatitis or preventions of photocarcinogenesis are needed to evaluate the clinical benefit of vitamin E.

A Danish population-based analysis of 105 mantle cell lymphoma patients: incidences, clinical features, response, survival and prognostic factors.

PubMed

Andersen, N S; Jensen, M K; de Nully Brown, P; Geisler, C H

2002-02-01

This study presents the first large clinical analysis of 105 unselected mantle cell lymphoma (MCL) patients diagnosed from 1992 to 2000 in a well-defined Danish population. The annual incidences were 0.7/100000 for men and 0.2/100000 for women, with no significant change during the study period. Of 97 evaluable cases, 43% achieved a complete response (CR) after initial therapy. The median disease-free (DFS) and overall survival (OS) rates were 15 and 30 months, respectively. In multivariate analysis, splenomegaly (P=0.002), anaemia (P=0.0001) and age (P=0.002), but not the international prognostic index (IPI) and the Ann Arbor staging system, had an independent impact on survival. Moreover, in a sub-analysis of 45 younger MCL patients (<65 years), a trend towards an OS plateau of 58% was observed in cases without splenomegaly and anaemia (n=29). Thus, in contrast to previously suggested prognostic factors, these variables may prove useful for clinical decisions in a significant subset of MCL patients.

Of Atkins and men: deviations from clinical definitions of mental retardation in death penalty cases.

PubMed

Blume, John H; Johnson, Sheri Lynn; Seeds, Christopher

2009-01-01

Under Atkins v. Virginia, the Eighth Amendment exempts from execution individuals who meet the clinical definitions of mental retardation set forth by the American Association on Intellectual and Developmental Disabilities and the American Psychiatric Association. Both define mental retardation as significantly subaverage intellectual functioning accompanied by significant limitations in adaptive functioning, originating before the age of 18. Since Atkins, most jurisdictions have adopted definitions of mental retardation that conform to those definitions. But some states, looking often to stereotypes of persons with mental retardation, apply exclusion criteria that deviate from and are more restrictive than the accepted scientific and clinical definitions. These state deviations have the effect of excluding from Atkins's reach some individuals who plainly fall within the class it protects. This article focuses on the cases of Roger Cherry, Jeffrey Williams, Michael Stallings, and others, who represent an ever-growing number of individuals inappropriately excluded from Atkins. Left unaddressed, the state deviations discussed herein permit what Atkins does not: the death-sentencing and execution of some capital defendants who have mental retardation.

A best-practice position statement on pregnancy after kidney transplantation: focusing on the unsolved questions. The Kidney and Pregnancy Study Group of the Italian Society of Nephrology.

PubMed

Gianfranca, Cabiddu; Donatella, Spotti; Giuseppe, Gernone; Domenico, Santoro; Gabriella, Moroni; Gina, Gregorini; Franca, Giacchino; Rossella, Attini; Monica, Limardo; Linda, Gammaro; Tullia, Todros; Piccoli, Giorgina Barbara

2018-06-14

Kidney transplantation (KT) is often considered to be the method best able to restore fertility in a woman with chronic kidney disease (CKD). However, pregnancies in KT are not devoid of risks (in particular prematurity, small for gestational age babies, and the hypertensive disorders of pregnancy). An ideal profile of the potential KT mother includes "normal" or "good" kidney function (usually defined as glomerular filtration rate, GFR ≥ 60 ml/min), scant or no proteinuria (usually defined as below 500 mg/dl), normal or well controlled blood pressure (one drug only and no sign of end-organ damage), no recent acute rejection, good compliance and low-dose immunosuppression, without the use of potentially teratogen drugs (mycophenolic acid and m-Tor inhibitors) and an interval of at least 1-2 years after transplantation. In this setting, there is little if any risk of worsening of the kidney function. Less is known about how to manage "non-ideal" situations, such as a pregnancy a short time after KT, or one in the context of hypertension or a failing kidney. The aim of this position statement by the Kidney and Pregnancy Group of the Italian Society of Nephrology is to review the literature and discuss what is known about the clinical management of CKD after KT, with particular attention to women who start a pregnancy in non-ideal conditions. While the experience in such cases is limited, the risks of worsening the renal function are probably higher in cases with markedly reduced kidney function, and in the presence of proteinuria. Well-controlled hypertension alone seems less relevant for outcomes, even if its effect is probably multiplicative if combined with low GFR and proteinuria. As in other settings of kidney disease, superimposed preeclampsia (PE) is differently defined and this impairs calculating its real incidence. No specific difference between non-teratogen immunosuppressive drugs has been shown, but calcineurin inhibitors have been associated with foetal growth restriction and low birth weight. The clinical choices in cases at high risk for malformations or kidney function impairment (pregnancies under mycophenolic acid or with severe kidney-function impairment) require merging clinical and ethical approaches in which, beside the mother and child dyad, the grafted kidney is a crucial "third element".

The incidence of invasive aspergillosis among solid organ transplant recipients and implications for prophylaxis in lung transplants.

PubMed

Minari, A; Husni, R; Avery, R K; Longworth, D L; DeCamp, M; Bertin, M; Schilz, R; Smedira, N; Haug, M T; Mehta, A; Gordon, S M

2002-12-01

Invasive aspergillosis (IA) is associated with significant morbidity and mortality in solid organ transplant recipients but data on the incidence rates stratified by type of solid organ are limited. To describe the attack rates and incidence of IA in solid organ transplant recipients, and the impact of universal Aspergillus prophylaxis (aerosolized amphotericin B or oral itraconazole) in lung transplant recipients. The 2,046 patients who received solid organ transplants at the Cleveland Clinic Foundation from January 1990 through 1999 were studied. Cases were ascertained through computerized records of microbiology, cytology, and pathology reports. Definite IA was defined as a positive culture and pathology showing septate hyphae. Probable IA was clinical disease and either a positive culture or histopathology. Disseminated IA was defined as involvement of two or more noncontiguous anatomic sites. We identified 33 cases of IA (28% disseminated) in 2,046 patients (attack rate = 1.6%) for an incidence of 4.8 cases per 1,000 patient-years (33 cases/6,813 pt-years). Both the attack and the incidence rates were significantly higher for lung transplant recipients vs. other transplant recipients: lung 12.8% (24 cases/188 patients) or 40.5 cases/1,000-pt year vs. heart 0.4% (3/686) or 1.4 per 1,000-pt year vs. liver 0.7% (3/439) or 2.1 per 1,000-pt year vs. renal 0.4% (3/733) or 1.2 per 1,000-pt year (P < 0.01). The incidence of IA was highest during the first year after transplantation for all categories, but cases occurred after the first year of transplantation only in lung transplant recipients. The attack rate of IA in lung transplant recipients was significantly lower after institution of routine Aspergillus prophylaxis (4.9% vs. 18.2%, P < 0.05). The highest incidence and attack rate of invasive aspergillosis among solid organ transplant recipients occurs in lung transplant recipients and supports the routine use of Aspergillus prophylaxis for at least one year after transplantation in this group.

Risk factors associated with short-term post-treatment outcomes of clinical mastitis.

PubMed

Pinzón-Sánchez, C; Ruegg, P L

2011-07-01

The objectives of this study were to characterize 60-d outcomes after treatment of mild (abnormal milk) and moderate (abnormal milk and abnormal udder) cases of clinical mastitis (CM) occurring in a single quarter of cows on Wisconsin farms (n=4) and to determine risk factors associated with those outcomes. Duplicate milk samples were collected from the affected quarter of each cow for microbiological analysis at the onset of CM (PRE) and 21 d later (POST). Cows were treated only in the affected quarter using an intramammary product containing 125 mg of ceftiofur. Bacteriological cure was defined as absence of pathogens in the POST sample obtained from the enrolled quarter. Recurrence was defined for the cow when CM occurred after the milk-withholding period for the enrolled case of CM. Retention in the herd was defined when a cow was retained within the herd for the 60-d follow-up period. Somatic cell count reduction (SCCR) was defined at the cow level as somatic cell count (SCC) below 200,000 cells/mL at the Dairy Herd Improvement Association test day occurring between 21 to 55 d post-treatment. The effects of farm, days in milk, parity, severity, microbiological diagnosis at PRE, previous milk yield, previous SCC, previous occurrence of CM and treatment duration on selected post-treatment outcomes were assessed using Chi-squared analysis and logistic regression. Microbiological results at PRE were distributed as: Escherichia coli (n=14), Klebsiella spp. (n=11), Enterobacter spp. (n=8), Serratia spp. (n=7), other gram-negative species (n=3), Streptococcus spp. (n=25), coagulase-negative staphylococci (n=4); Staphylococcus aureus (n=1); Streptococcus agalactiae (n=1), other gram-positive species (n=9), and culture negative (n=60). Treated quarters were more likely to experience bacteriological cure when the cow experienced CM for the first time in the lactation and when no pathogen was recovered from PRE milk samples obtained from the enrolled quarter. Parity and bacteriological cure were associated with the probability of recurrence. Greater milk yield at previous Dairy Herd Improvement test was the most important predictor for retention within the herd. When SCC before CM was >200,000 cells/mL the probability of having SCCR after treatment was decreased. When the case experienced bacteriological cure, the cow was less likely to experience recurrent cases and was more likely to have SCCR below 200,000 cells/mL. Post-treatment outcomes, such as recurrence and SCCR, are strongly associated with bacteriological cure and, when monitored, can be used to help determine if a treatment has been successful. Information about the etiology of CM, history of clinical and subclinical mastitis, and parity are useful to review when making strategic treatment decisions. Copyright © 2011 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

Telomere length and genetics are independent colorectal tumour risk factors in an evaluation of biomarkers in normal bowel.

PubMed

Fernandez-Rozadilla, Ceres; Kartsonaki, Christiana; Woolley, Connor; McClellan, Michael; Whittington, Deb; Horgan, Gareth; Leedham, Simon; Kriaucionis, Skirmantas; East, James; Tomlinson, Ian

2018-03-06

Colorectal cancer (CRC) screening might be improved by using a measure of prior risk to modulate screening intensity or the faecal immunochemical test threshold. Intermediate molecular biomarkers could aid risk prediction by capturing both known and unknown risk factors. We sampled normal bowel mucosa from the proximal colon, distal colon and rectum of 317 individuals undergoing colonoscopy. We defined cases as having a personal history of colorectal polyp(s)/cancer, and controls as having no history of colorectal neoplasia. Molecular analyses were performed for: telomere length (TL); global methylation; and the expression of genes in molecular pathways associated with colorectal tumourigenesis. We also calculated a polygenic risk score (PRS) based on CRC susceptibility polymorphisms. Bowel TL was significantly longer in cases than controls, but was not associated with blood TL. PRS was significantly and independently higher in cases. Hypermethylation showed a suggestive association with case:control status. No gene or pathway was differentially expressed between cases and controls. Gene expression often varied considerably between bowel locations. PRS and bowel TL (but not blood TL) may be clinically-useful predictors of CRC risk. Sample collection to assess these biomarkers is feasible in clinical practice, especially where population screening uses flexible sigmoidoscopy or colonoscopy.

Intoxication by gamma hydroxybutyrate and related analogues: Clinical characteristics and comparison between pure intoxication and that combined with other substances of abuse.

PubMed

Miró, Òscar; Galicia, Miguel; Dargan, Paul; Dines, Alison M; Giraudon, Isabelle; Heyerdahl, Fridtjof; Hovda, Knut E; Yates, Christopher; Wood, David M; Liakoni, Evangelia; Liechti, Matthias; Jürgens, Gesche; Pedersen, Carsten Boe; O'Connor, Niall; Markey, Gerard; Moughty, Adrian; Lee, Christopher; O'Donohoe, Patrick; Sein Anand, Jacek; Puiguriguer, Jordi; Homar, Catalina; Eyer, Florian; Vallersnes, Odd Martin; Persett, Per Sverre; Chevillard, Lucie; Mégarbane, Bruno; Paasma, Raido; Waring, W Stephen; Põld, Kristiina; Rabe, Christian; Kabata, Piotr Maciej

2017-08-05

To study the profile of European gamma-hydroxybutyrate (GHB) and gammabutyrolactone (GBL) intoxication and analyse the differences in the clinical manifestations produced by intoxication by GHB/GBL alone and in combination with other substances of abuse. We prospectively collected data on all the patients attended in the Emergency Departments (ED) of the centres participating in the Euro-DEN network over 12 months (October 2013 to September 2014) with a primary presenting complaint of drug intoxication (excluding ethanol alone) and registered the epidemiological and clinical data and outcomes. We included 710 cases (83% males, mean age 31 years), representing 12.6% of the total cases attended for drug intoxication. Of these, 73.5% arrived at the ED by ambulance, predominantly during weekend, and 71.7% consumed GHB/GBL in combination with other substances of abuse, the most frequent additional agents being ethanol (50%), amphetamine derivatives (36%), cocaine (12%) and cannabis (8%). Among 15 clinical features pre-defined in the project database, the 3 most frequently identified were altered behaviour (39%), reduced consciousness (34%) and anxiety (14%). The severity ranged from mild cases requiring no treatment (308 cases, 43.4%) to severe cases requiring admission to intensive care (103 cases, 14.6%) and mechanical ventilation (49 cases, 6.9%). No deaths were reported. In comparison with only GHB/GBL consumption, patients consuming GHB/GBL with co-intoxicants presented more vomiting (15% vs. 3%, p<0.001) and cardiovascular symptoms (5.3% vs. 1.5%, p<0.05), a greater need for treatment (59.8% vs. 48.3%, p<0.01) and a longer ED stay (11.3% vs. 3.6% patients with ED stay >12h, p<0.01). The profile of the typical GHB/GBL-intoxicated European is a young male, requiring care for altered behaviour and reduced level of consciousness, mainly during the weekend. The clinical features are more severe when GHB is consumed in combination with other substances of abuse. Copyright © 2017 Elsevier B.V. All rights reserved.

Malaria prevalence defined by microscopy, antigen detection, DNA amplification and total nucleic acid amplification in a malaria-endemic region during the peak malaria transmission season.

PubMed

Waitumbi, John N; Gerlach, Jay; Afonina, Irina; Anyona, Samuel B; Koros, Joseph N; Siangla, Joram; Ankoudinova, Irina; Singhal, Mitra; Watts, Kate; Polhemus, Mark E; Vermeulen, Nicolaas M; Mahoney, Walt; Steele, Matt; Domingo, Gonzalo J

2011-07-01

To determine the malaria prevalence by microscopy, antigen detection and nucleic acid detection in a defined subpopulation in a Plasmodium falciparum-endemic region during the peak transmission season. Blood specimens were collected in a cross-sectional study involving children aged 5-10 years (n = 195) presenting with acute fever to two clinics in Western Kenya. All specimens underwent microscopy, HRP2 and aldolase antigen detection by enzyme immunoassay (EIA), parasite-specific DNA and total nucleic acid (RNA and DNA) by real-time PCR (qPCR) and reverse-transcriptase PCR (qRT-PCR). Microscopy detected 65/195 cases of malaria infection [95% confidence interval (CI) 52-78]. HRP2 and aldolase EIA had similar sensitivity levels detecting antigen in 65/195 (95% CI, 52-78) and 57/195 (95% CI, 45-70) cases. Discordants in antigen detection vs. microscopy occurred at <470 parasites/μl and <4900 parasites/μl for HRP2 and aldolase, respectively. Detection of total nucleic acid allowed a 3 log lower limit of detection than just DNA detection by real-time PCR in vitro. In clinical specimens, 114/195 (95% CI, 100-127) were qPCR positive (DNA), and 187/195 (95% CI, 179-191) were qRT-PCR positive (DNA plus RNA). The prevalence of submicroscopic malaria infection was significantly higher when detecting total nucleic acid than just DNA in this outpatient population during the high transmission season. Defining standards for submicroscopic infection will be important for control programmes, diagnostics development efforts and molecular epidemiology studies. © 2011 Blackwell Publishing Ltd.

Coronary angioplasty with second generation Monorail catheters.

PubMed

Pande, A K; Meier, B; Urban, P; Villavicencio, R; de la Serna, F; Moles, V

1991-07-01

The Monorail system (Schneider) consists of a balloon catheter in which the guidewire passes through the balloon itself, exits the catheter proximal to the balloon, and runs alongside its small shaft (3 French) through the length of the guiding catheter. It offers distinct advantages over conventional systems of coronary angioplasty. It facilitates contrast injections and permits rapid balloon exchanges. This system was used for coronary angioplasty in 273 unselected consecutive patients (age 59 +/- 10, mean 35 to 73 years). There were 216 patients (84%) undergoing single-vessel and 57 patients (16%) with multi-vessel coronary angioplasty. A total of 335 coronary stenoses were dilated, which included 35 total occlusions. The size of balloon used ranged from 2.0 to 4.25 mm (3.0 +/- 0.5 mm) and the severity of stenosis was 85 +/- 11%. Technical success was defined as a residual stenosis of less than 50% as determined angiographically. Clinical success was defined as technical success, and absence of a major inhospital complication defined as absence of myocardial infarction, lack of need for coronary arterial bypass surgery, and survival. The Monorail system was technically successful in 294/300 stenotic lesions (98%). It was clinically successful for 281 lesions (94%). Of the 35 total occlusions, technical success was obtained in 25 (71%). The residual stenosis of successful cases was 26 +/- 21%. The Monorail system was also successful in 5 patients with stenosis of more than 90% in whom conventional systems failed. The complications included acute occlusion causing acute myocardial infarction in 13 cases (5%), emergency coronary arterial bypass surgery in 1 patient (0.4%), and death in 4 patients (1.5%).(ABSTRACT TRUNCATED AT 250 WORDS)

Transrectal real-time elastography of the prostate: Normal patterns

PubMed Central

Goddi, A.; Sacchi, A.; Magistretti, G.; Almolla, J.

2011-01-01

Introduction Given the growing importance in clinical practice of transrectal real-time sonoelastography of the prostate, it is important to define normal patterns correlated to volume growth and reconsider the technical problems. Materials and methods We selected a sample of 100 men aged 30 to 87 with prostate volumes ranging from 20 to 100 cc. Strain images were obtained using an end-fire convex probe. The elasticity patterns of the various anatomical zones of the prostate were compared with the volume. Results The peripheral zone showed intermediate elasticity in 100% of cases regardless of the volume. We found some rare small areas of more limited elasticity in 23% of cases, among patients over 40. The posterior side of the central zone exhibited intermediate elasticity, and relative inelasticity was observed on the lateral side and at the base in 79% of cases. The entire central zone appeared compliant in 15% of cases and inelastic in 6%. The transition zone findings were stratified according to gland volume. When the volume was less than 45 cc, the transition zone was elastic in 67% of cases, inhomogeneously inelastic in 22%, and uniformly inelastic in 11%. In glands larger than 45 cc, the appearance was mainly elastic in 31% of cases, inhomogeneously inelastic in 57%, and uniformly inelastic in 12%. Conclusions Real-time elastography can distinguish the elastic properties of the prostate and define the normal patterns associated with increases in gland volume. PMID:23396618

Nipple adenoma arising from axillary accessory breast: a case report

PubMed Central

2012-01-01

Nipple adenoma is a relatively rare benign breast neoplasm, and cases of the disease arising from the axillary accessory breast have very seldom been reported in the English literature. We report a case of nipple adenoma arising from axillary accessory breast including clinical and pathological findings. An 82-year-old woman presented with the complaint of a small painful mass in the right axilla. Physical examination confirmed a well-defined eczematous crusted mass that was 8 mm in size. The diagnosis of nipple adenoma was made from an excisional specimen on the basis of characteristic histological findings. Microscopic structural features included a compact proliferation of small tubules lined by epithelial and myoepithelial cells, and the merging of glandular epithelial cells of the adenoma into squamous epithelial cells in the superficial epidermal layer. Because clinically nipple adenoma may resemble Paget’s disease and pathologically can be misinterpreted as tubular carcinoma, the correct identification of nipple adenoma is an important factor in the differential diagnosis for axillary tumor neoplasms. Virtual slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1186821489769063 PMID:23186145

"Numb-Leg" in a CrossFit Athlete: A Case Presentation.

PubMed

Esser, Stephan; Thurston, Mckennan; Nalluri, Krishna; Muzaurieta, Aurelio

2017-08-01

Participation in CrossFit athletics and Olympic-style lifting by the general populace has rapidly increased in the last 10 years. Such athletic engagement poses unique, inadequately defined risks to the participant. We describe the case of a 36-year-old man who presented to an outpatient sports medicine clinic with 6 weeks of numbness and tingling in the lateral right proximal thigh. After thorough examination and electromyographic testing, he was found to have a lateral femoral cutaneous neuropathy caused by performing supine gluteal bridges with a weighted barbell resting across his anterior thighs. His case exemplifies the unique exercise demands and injury risks of CrossFit-style exercise. Sports medicine providers should be familiar with both trends in sports/fitness participation and the associated unique risks that such sports pose, so as to adequately counsel patients on safety of participation and to correctly identify the cause of injury when evaluating patients in the clinical setting. V. Copyright © 2017 American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.

True double bifurcation lesions: new application of the self-expandable Axxess stent and review of literature with dedicated bifurcation devices.

PubMed

Borgia, Francesco; Niglio, Tullio; De Luca, Nicola; Di Serafino, Luigi; Esposito, Giovanni; Trimarco, Bruno; Cirillo, Plinio

2018-04-21

Complex coronary artery bifurcation lesions occurred in hard clinical scenarios, such as acute coronary syndromes, may represent a challenge for interventional cardiologists, with not-defined general consensus on treatment. Even if provisional stenting is the most common option used to restore rapidly the coronary branches flow, improvements in industrial technologies and design of new dedicated bifurcation devices might open new modalities of treatment in these complex cases. The Axxess stent (Biosensors Europe SA, Morges, Switzerland) is a self-expanding biolimus-eluting conical V-shape stent, specifically designed to treat "easily" coronary artery bifurcation lesions, with reported favorable long-term clinical results in stable patients compared to a provisional technique. We report for the first time the feasibility to use this device in a case of "true double coronary bifurcation lesion" occurred in the context of acute coronary syndrome. Moreover, we reviewed studies with bifurcation dedicated devices and available cases of "true double bifurcation lesions", underlying advantages/disadvantages of using one device over the others during acute coronary syndrome. Copyright © 2018 Elsevier Inc. All rights reserved.

Using discordance to improve classification in narrative clinical databases: an application to community-acquired pneumonia.

PubMed

Hripcsak, George; Knirsch, Charles; Zhou, Li; Wilcox, Adam; Melton, Genevieve B

2007-03-01

Data mining in electronic medical records may facilitate clinical research, but much of the structured data may be miscoded, incomplete, or non-specific. The exploitation of narrative data using natural language processing may help, although nesting, varying granularity, and repetition remain challenges. In a study of community-acquired pneumonia using electronic records, these issues led to poor classification. Limiting queries to accurate, complete records led to vastly reduced, possibly biased samples. We exploited knowledge latent in the electronic records to improve classification. A similarity metric was used to cluster cases. We defined discordance as the degree to which cases within a cluster give different answers for some query that addresses a classification task of interest. Cases with higher discordance are more likely to be incorrectly classified, and can be reviewed manually to adjust the classification, improve the query, or estimate the likely accuracy of the query. In a study of pneumonia--in which the ICD9-CM coding was found to be very poor--the discordance measure was statistically significantly correlated with classification correctness (.45; 95% CI .15-.62).

Zika virus infection and Guillain-Barré syndrome: a review focused on clinical and electrophysiological subtypes.

PubMed

Uncini, Antonino; Shahrizaila, Nortina; Kuwabara, Satoshi

2017-03-01

In 2016, we have seen a rapid emergence of Zika virus-associated Guillain-Barré syndrome (GBS) since its first description in a French-Polynesian patient in 2014. Current evidence estimates the incidence of GBS at 24 cases per 100 000 persons infected by Zika virus. This will result in a sharp rise in the number of GBS cases worldwide with the anticipated global spread of Zika virus. A better understanding of the pathogenesis of Zika-associated GBS is crucial to prepare us for the current epidemic. In this review, we evaluate the existing literature on GBS in association with Zika and other flavivirus to better define its clinical subtypes and electrophysiological characteristics, demonstrating a demyelinating subtype of GBS in most cases. We also recommend measures that will help reduce the gaps in knowledge that currently exist. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.

PubMed

Nakayama, Akiyoshi; Nakaoka, Hirofumi; Yamamoto, Ken; Sakiyama, Masayuki; Shaukat, Amara; Toyoda, Yu; Okada, Yukinori; Kamatani, Yoichiro; Nakamura, Takahiro; Takada, Tappei; Inoue, Katsuhisa; Yasujima, Tomoya; Yuasa, Hiroaki; Shirahama, Yuko; Nakashima, Hiroshi; Shimizu, Seiko; Higashino, Toshihide; Kawamura, Yusuke; Ogata, Hiraku; Kawaguchi, Makoto; Ohkawa, Yasuyuki; Danjoh, Inaho; Tokumasu, Atsumi; Ooyama, Keiko; Ito, Toshimitsu; Kondo, Takaaki; Wakai, Kenji; Stiburkova, Blanka; Pavelka, Karel; Stamp, Lisa K; Dalbeth, Nicola; Sakurai, Yutaka; Suzuki, Hiroshi; Hosoyamada, Makoto; Fujimori, Shin; Yokoo, Takashi; Hosoya, Tatsuo; Inoue, Ituro; Takahashi, Atsushi; Kubo, Michiaki; Ooyama, Hiroshi; Shimizu, Toru; Ichida, Kimiyoshi; Shinomiya, Nariyoshi; Merriman, Tony R; Matsuo, Hirotaka

2017-05-01

A genome-wide association study (GWAS) of gout and its subtypes was performed to identify novel gout loci, including those that are subtype-specific. Putative causal association signals from a GWAS of 945 clinically defined gout cases and 1213 controls from Japanese males were replicated with 1396 cases and 1268 controls using a custom chip of 1961 single nucleotide polymorphisms (SNPs). We also first conducted GWASs of gout subtypes. Replication with Caucasian and New Zealand Polynesian samples was done to further validate the loci identified in this study. In addition to the five loci we reported previously, further susceptibility loci were identified at a genome-wide significance level (p<5.0×10 -8 ): urate transporter genes ( SLC22A12 and SLC17A1 ) and HIST1H2BF-HIST1H4E for all gout cases, and NIPAL1 and FAM35A for the renal underexcretion gout subtype. While NIPAL1 encodes a magnesium transporter, functional analysis did not detect urate transport via NIPAL1, suggesting an indirect association with urate handling. Localisation analysis in the human kidney revealed expression of NIPAL1 and FAM35A mainly in the distal tubules, which suggests the involvement of the distal nephron in urate handling in humans. Clinically ascertained male patients with gout and controls of Caucasian and Polynesian ancestries were also genotyped, and FAM35A was associated with gout in all cases. A meta-analysis of the three populations revealed FAM35A to be associated with gout at a genome-wide level of significance (p meta =3.58×10 -8 ). Our findings including novel gout risk loci provide further understanding of the molecular pathogenesis of gout and lead to a novel concept for the therapeutic target of gout/hyperuricaemia. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Image-based diagnostic aid for interstitial lung disease with secondary data integration

NASA Astrophysics Data System (ADS)

Depeursinge, Adrien; Müller, Henning; Hidki, Asmâa; Poletti, Pierre-Alexandre; Platon, Alexandra; Geissbuhler, Antoine

2007-03-01

Interstitial lung diseases (ILDs) are a relatively heterogeneous group of around 150 illnesses with often very unspecific symptoms. The most complete imaging method for the characterisation of ILDs is the high-resolution computed tomography (HRCT) of the chest but a correct interpretation of these images is difficult even for specialists as many diseases are rare and thus little experience exists. Moreover, interpreting HRCT images requires knowledge of the context defined by clinical data of the studied case. A computerised diagnostic aid tool based on HRCT images with associated medical data to retrieve similar cases of ILDs from a dedicated database can bring quick and precious information for example for emergency radiologists. The experience from a pilot project highlighted the need for detailed database containing high-quality annotations in addition to clinical data. The state of the art is studied to identify requirements for image-based diagnostic aid for interstitial lung disease with secondary data integration. The data acquisition steps are detailed. The selection of the most relevant clinical parameters is done in collaboration with lung specialists from current literature, along with knowledge bases of computer-based diagnostic decision support systems. In order to perform high-quality annotations of the interstitial lung tissue in the HRCT images an annotation software and its own file format is implemented for DICOM images. A multimedia database is implemented to store ILD cases with clinical data and annotated image series. Cases from the University & University Hospitals of Geneva (HUG) are retrospectively and prospectively collected to populate the database. Currently, 59 cases with certified diagnosis and their clinical parameters are stored in the database as well as 254 image series of which 26 have their regions of interest annotated. The available data was used to test primary visual features for the classification of lung tissue patterns. These features show good discriminative properties for the separation of five classes of visual observations.

Pulmonary contusions after blunt chest trauma: clinical significance and evaluation of patient management.

PubMed

Požgain, Z; Kristek, D; Lovrić, I; Kondža, G; Jelavić, M; Kocur, J; Danilović, M

2017-11-22

A pulmonary contusion is an entity defined as alveolar haemorrhage and pulmonary parenchymal destruction after blunt chest trauma. According to the literature, most pulmonary contusions can only be seen on a chest CT. The aim of this study was to evaluate the patients with pulmonary contusions, as well as their management, considering diagnostic and therapeutic options related to their outcomes, since we assumed, based on everyday clinical practice, that an 'overdiagnosing' and 'overtreatment' attitude towards this injury could be present. The research was a retrospective study including 5042 patients admitted to the Department of Traumatology in the Clinical Hospital Centre Osijek, during a 3-year period. The medical data of the patients who suffered pulmonary contusion were evaluated considering significant characteristics, known risk factors, procedures undergone, and outcomes. During the 3-year period, 2% of all the admitted patients were diagnosed with a pulmonary contusion. In 54% of the cases, the patient suffered polytraumatic injuries. The pulmonary contusion was an isolated injury in 7% of the patients. In 31% of the cases, there was no liquidothorax or pneumothorax (isolated pulmonary contusion). In 89% of the patients the pulmonary contusion was diagnosed using a CT scan. In 68% of the patients there were no interventions regarding the thorax; thoracocentesis was performed in 25% of the cases, and pleural punction in 14% of the cases. 25% of the patients developed respiratory insufficiency and 16% required mechanical ventilation. Regarding isolated pulmonary contusions, respiratory insufficiency was present in 8% of the cases. We suggest that a pulmonary contusion seen on CT only has limited clinical significance and that the use of CT scans in diagnosing and follow-up of these patients should be re-evaluated. Further prospective and randomised studies should be conducted and the patients should be clinically evaluated, with the administration of supportive and antibiotic therapy, maintaining the fluid balance, the administration of diuretics, supportive oxygen therapy, pulmonary toilet, and physical therapy.

Carpal tunnel syndrome – Part I (anatomy, physiology, etiology and diagnosis)☆☆☆

PubMed Central

Chammas, Michel; Boretto, Jorge; Burmann, Lauren Marquardt; Ramos, Renato Matta; dos Santos Neto, Francisco Carlos; Silva, Jefferson Braga

2014-01-01

Carpal tunnel syndrome (CTS) is defined by compression of the median nerve in the wrist. It is the commonest of the compressive syndromes and its most frequent cause is idiopathic. Even though spontaneous regression is possible, the general rule is that the symptoms will worsen. The diagnosis is primarily clinical, from the symptoms and provocative tests. Electroneuromyographic examination may be recommended before the operation or in cases of occupational illnesses. PMID:26229841

Ectodermal dysplasia (ED) syndrome.

PubMed

Chee, Siew-Yin; Wanga, Chung-Hsing; Lina, Wei-De; Tsaia, Fuu-Jen

2014-01-01

Ectodermal dysplasia (ED) syndrome comprises a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of 2 or more tissues derived from the embryonic ectoderm. The tissues primarily involved are the skin and its appendages (including hair follicles, eccrine glands, sebaceous glands, nails) and teeth. The clinical features include sparse hair, abnormal or missing teeth, and an inability to sweat due to lack of sweat glands. One such case report of ectodermal dysplasia is presented here.

Unique case of oligoastrocytoma with recurrence and grade progression: Exhibiting differential expression of high mobility group-A1 and human telomerase reverse transcriptase

PubMed Central

Gandhi, Puneet; Khare, Richa; Niraj, Kavita; Garg, Nitin; Sorte, Sandeep K; Gulwani, Hanni

2016-01-01

Mixed gliomas, primarily oligoastrocytomas, account for about 5%-10% of all gliomas. Distinguishing oligoastrocytoma based on histological features alone has limitations in predicting the exact biological behavior, necessitating ancillary markers for greater specificity. In this case report, human telomerase reverse transcriptase (hTERT) and high mobility group-A1 (HMGA1); markers of proliferation and stemness, have been quantitatively analyzed in formalin-fixed paraffin-embedded tissue samples of a 34 years old patient with oligoastrocytoma. Customized florescence-based immunohistochemistry protocol with enhanced sensitivity and specificity is used in the study. The patient presented with a history of generalized seizures and his magnetic resonance imaging scans revealed infiltrative ill-defined mass lesion with calcified foci within the left frontal white matter, suggestive of glioma. He was surgically treated at our center for four consecutive clinical events. Histopathologically, the tumor was identified as oligoastrocytoma-grade II followed by two recurrence events and final progression to grade III. Overall survival of the patient without adjuvant therapy was more than 9 years. Glial fibrillary acidic protein, p53, Ki-67, nuclear atypia index, pre-operative neutrophil-lymphocyte ratio, are the other parameters assessed. Findings suggest that hTERT and HMGA1 are linked to tumor recurrence and progression. Established markers can assist in defining precise histopathological grade in conjuction with conventional markers in clinical setup. PMID:27672647

Point-Counterpoint: The FDA Has a Role in Regulation of Laboratory-Developed Tests.

PubMed

Caliendo, Angela M; Hanson, Kimberly E

2016-04-01

Since the Food and Drug Administration (FDA) released its draft guidance on the regulation of laboratory-developed tests (LDTs) in October 2014, there has been a flurry of responses from commercial and hospital-based laboratory directors, clinicians, professional organizations, and diagnostic companies. The FDA defines an LDT as an "in vitrodiagnostic device that is intended for clinical use and is designed, manufactured, and used within a single laboratory." The draft guidance outlines a risk-based approach, with oversight of high-risk and moderate-risk tests being phased in over 9 years. High-risk tests would be regulated first and require premarket approval. Subsequently, moderate-risk tests would require a 510(k) premarket submission to the FDA and low-risk tests would need only to be registered. Oversight discretion would be exercised for LDTs focused on rare diseases (defined as fewer than 4,000 tests, not cases, per year nationally) and unmet clinical needs (defined as those tests for which there is no alternative FDA-cleared or -approved test). There was an open comment period followed by a public hearing in early January of 2015, and we are currently awaiting the final decision regarding the regulation of LDTs. Given that LDTs have been developed by many laboratories and are essential for the diagnosis and monitoring of an array of infectious diseases, changes in their regulation will have far-reaching implications for clinical microbiology laboratories. In this Point-Counterpoint, Angela Caliendo discusses the potential benefits of the FDA guidance for LDTs whereas Kim Hanson discusses the concerns associated with implementing the guidance and why these regulations may not improve clinical care. Copyright © 2016, American Society for Microbiology. All Rights Reserved.

Data sharing platforms for de-identified data from human clinical trials.

PubMed

Huser, Vojtech; Shmueli-Blumberg, Dikla

2018-04-01

Data sharing of de-identified individual participant data is being adopted by an increasing number of sponsors of human clinical trials. In addition to standardizing data syntax for shared trial data, semantic integration of various data elements is the focus of several initiatives that define research common data elements. This perspective article, in the first part, compares several data sharing platforms for de-identified clinical research data in terms of their size, policies and supported features. In the second part, we use a case study approach to describe in greater detail one data sharing platform (Data Share from National Institute of Drug Abuse). We present data on the past use of the platform, data formats offered, data de-identification approaches and its use of research common data elements. We conclude with a summary of current and expected future trends that facilitate secondary research use of data from completed human clinical trials.

Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia.

PubMed

Leipoldt, M; Erdel, M; Bien-Willner, G A; Smyk, M; Theurl, M; Yatsenko, S A; Lupski, J R; Lane, A H; Shanske, A L; Stankiewicz, P; Scherer, G

2007-01-01

The semilethal skeletal malformation syndrome campomelic dysplasia (CD) with or without XY sex reversal is caused by mutations within the SOX9 gene on 17q24.3 or by chromosomal aberrations (translocations, inversions or deletions) with breakpoints outside the SOX9 coding region. The previously published CD translocation breakpoints upstream of SOX9 fall into two clusters: a proximal cluster with breakpoints between 50-300 kb and a distal cluster with breakpoints between 899-932 kb. Here, we present clinical, cytogenetic and molecular data from two novel CD translocation cases. Case 1 with karyotype 46,XY,t(1;17)(q42.1;q24.3) has characteristic symptoms of CD, including mild tibial bowing, cryptorchidism and hypospadias. By standard fluorescence in situ hybridization (FISH) and by high-resolution fiber FISH, the 17q breakpoint was mapped 375 kb from SOX9, defining the centromeric border of the proximal breakpoint cluster region. Case 2 with karyotype 46,X,t(Y;17)(q11.2;q24.3) has the acampomelic form of CD and complete XY sex reversal. By FISH and somatic cell hybrid analysis, the 17q breakpoint was mapped 789 kb from SOX9, defining the telomeric border of the distal breakpoint cluster region. We discuss the structure of the 1 Mb cis-control region upstream of SOX9 and the correlation between the position of the 14 mapped translocation breakpoints with respect to disease severity and XY sex reversal.

International Patterns of Practice in the Management of Radiation Therapy-induced Nausea and Vomiting

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

Dennis, Kristopher; Zhang Liying; Lutz, Stephen

Purpose: To investigate international patterns of practice in the management of radiation therapy-induced nausea and vomiting (RINV). Methods and Materials: Oncologists prescribing radiation therapy in the United States, Canada, The Netherlands, Australia, New Zealand, Spain, Italy, France, Hong Kong, Singapore, Cyprus, and Israel completed a Web-based survey that was based on 6 radiation therapy-only clinical cases modeled after the minimal-, low-, moderate-, and high-emetic risk levels defined in the antiemetic guidelines of the American Society of Clinical Oncology and the Multinational Association of Supportive Care in Cancer. For each case, respondents estimated the risks of nausea and vomiting separately andmore » committed to an initial management approach. Results: In total, 1022 responses were received. Risk estimates and management decisions for the minimal- and high-risk cases varied little and were in line with guideline standards, whereas those for the low- and moderate-risk cases varied greatly. The most common initial management strategies were as follows: rescue therapy for a minimal-risk case (63% of respondents), 2 low-risk cases (56% and 80%), and 1 moderate-risk case (66%); and prophylactic therapy for a second moderate-risk case (75%) and a high-risk case (95%). The serotonin (5-HT){sub 3} receptor antagonists were the most commonly recommended prophylactic agents. On multivariate analysis, factors predictive of a decision for prophylactic or rescue therapy were risk estimates of nausea and vomiting, awareness of the American Society of Clinical Oncology antiemetic guideline, and European Society for Therapeutic Radiology and Oncology membership. Conclusions: Risk estimates and management strategies for RINV varied, especially for low- and moderate-risk radiation therapy cases. Radiation therapy-induced nausea and vomiting are under-studied treatment sequelae. New observational and translational studies are needed to allow for individual patient risk assessment and to refine antiemetic guideline management recommendations.« less

Defining asthma and assessing asthma outcomes using electronic health record data: a systematic scoping review.

PubMed

Al Sallakh, Mohammad A; Vasileiou, Eleftheria; Rodgers, Sarah E; Lyons, Ronan A; Sheikh, Aziz; Davies, Gwyneth A

2017-06-01

There is currently no consensus on approaches to defining asthma or assessing asthma outcomes using electronic health record-derived data. We explored these approaches in the recent literature and examined the clarity of reporting.We systematically searched for asthma-related articles published between January 1, 2014 and December 31, 2015, extracted the algorithms used to identify asthma patients and assess severity, control and exacerbations, and examined how the validity of these outcomes was justified.From 113 eligible articles, we found significant heterogeneity in the algorithms used to define asthma (n=66 different algorithms), severity (n=18), control (n=9) and exacerbations (n=24). For the majority of algorithms (n=106), validity was not justified. In the remaining cases, approaches ranged from using algorithms validated in the same databases to using nonvalidated algorithms that were based on clinical judgement or clinical guidelines. The implementation of these algorithms was suboptimally described overall.Although electronic health record-derived data are now widely used to study asthma, the approaches being used are significantly varied and are often underdescribed, rendering it difficult to assess the validity of studies and compare their findings. Given the substantial growth in this body of literature, it is crucial that scientific consensus is reached on the underlying definitions and algorithms. Copyright ©ERS 2017.

Efficacy of ultrasound elastography in detecting active myositis in children: can it replace MRI?

PubMed

Berko, Netanel S; Hay, Arielle; Sterba, Yonit; Wahezi, Dawn; Levin, Terry L

2015-09-01

Juvenile idiopathic inflammatory myopathy is a rare yet potentially debilitating condition. MRI is used both for diagnosis and to assess response to treatment. No study has evaluated the performance of US elastography in the diagnosis of this condition in children. To assess the performance of compression-strain US elastography in detecting active myositis in children with clinically confirmed juvenile idiopathic inflammatory myopathy and to compare its efficacy to MRI. Children with juvenile idiopathic inflammatory myopathy underwent non-contrast MR imaging as well as compression-strain US elastography of the quadriceps muscles. Imaging findings from both modalities were compared to each other as well as to the clinical determination of active disease based on physical examination and laboratory data. Active myositis on MR was defined as increased muscle signal on T2-weighted images. Elastography images were defined as normal or abnormal based on a previously published numerical scale of muscle elastography in normal children. Muscle echogenicity was graded as normal or abnormal based on gray-scale sonographic images. Twenty-one studies were conducted in 18 pediatric patients (15 female, 3 male; age range 3-19 years). Active myositis was present on MRI in ten cases. There was a significant association between abnormal MRI and clinically active disease (P = 0.012). US elastography was abnormal in 4 of 10 cases with abnormal MRI and in 4 of 11 cases with normal MRI. There was no association between abnormal elastography and either MRI (P > 0.999) or clinically active disease (P > 0.999). Muscle echogenicity was normal in 11 patients; all 11 had normal elastography. Of the ten patients with increased muscle echogenicity, eight had abnormal elastography. There was a significant association between muscle echogenicity and US elastography (P < 0.001). The positive and negative predictive values for elastography in the determination of active myositis were 75% and 31%, respectively, with a sensitivity of 40% and specificity of 67%. Compression-strain US elastography does not accurately detect active myositis in children with juvenile idiopathic inflammatory myopathy and cannot replace MRI as the imaging standard for detecting myositis in these children. The association between abnormal US elastography and increased muscle echogenicity suggests that elastography is capable of detecting muscle derangement in patients with myositis; however further studies are required to determine the clinical significance of these findings.

A case report of the clear cell variant of gallbladder carcinoma.

PubMed

Maharaj, Ravi; Cave, Christo; Sarran, Kevin; Bascombe, Nigel; Dan, Dilip; Greaves, Wesley; Warner, Wayne A

2017-01-01

Clear cell gallbladder carcinoma accounts for less than 1% of all gallbladder malignancies and demonstrates its unique histopathological characteristics in patients with no prior medical illness or familial predisposition. Here we present a case of a 56-year-old female, with no prior medical conditions presented with a 2-month history of upper abdominal pain. Routine hematological and biochemical tests were unremarkable. An abdominal ultrasound revealed the presence of a gallbladder calculi, and a fundic mass while magnetic resonance cholangiopancreatography revealed a 8.0cm×3.5cm gallbladder mass. Computed tomography imaging excluded any distant haematogenous metastases. An open cholecystectomy with lymphadenectomy was proceeded by staging laparoscopy. Upon pathologic investigation, the morphologic and immunophenotypic features supported a diagnosis of clear cell variant of gallbladder carcinoma. Pathological prognostications for primary clear cell gall bladder carcinomas are not well defined due to the rarity of cases and possible misidentification as secondary metastases. Foci of adenocarcinoma within the tumor along with immunohistochemical staining probes can be informative in consideration of differential diagnosis. In these cases, clinical case management should be personalized for increased survival with the possible incorporation of next generation sequencing approaches to guide therapeutic algorithms. We discuss this exceedingly rare case of the clear cell variant of gallbladder carcinoma in detail, highlighting some of the diagnostic, and clinical challenges. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

Phenotype-driven molecular autopsy for sudden cardiac death.

PubMed

Cann, F; Corbett, M; O'Sullivan, D; Tennant, S; Hailey, H; Grieve, J H K; Broadhurst, P; Rankin, R; Dean, J C S

2017-01-01

A phenotype-driven approach to molecular autopsy based in a multidisciplinary team comprising clinical and laboratory genetics, forensic medicine and cardiology is described. Over a 13 year period, molecular autopsy was undertaken in 96 sudden cardiac death cases. A total of 46 cases aged 1-40 years had normal hearts and suspected arrhythmic death. Seven (15%) had likely pathogenic variants in ion channelopathy genes [KCNQ1 (1), KCNH2 (4), SCN5A (1), RyR2(1)]. Fifty cases aged between 2 and 67 had a cardiomyopathy. Twenty-five had arrhythmogenic right ventricular cardiomyopathy (ARVC), 10 dilated cardiomyopathy (DCM) and 15 hypertrophic cardiomyopathy (HCM). Likely pathogenic variants were found in three ARVC cases (12%) in PKP2, DSC2 or DSP, two DCM cases (20%) in MYH7, and four HCM cases (27%) in MYBPC3 (3) or MYH7 (1). Uptake of cascade screening in relatives was higher when a molecular diagnosis was made at autopsy. In three families, variants previously published as pathogenic were detected, but clinical investigation revealed no abnormalities in carrier relatives. With a conservative approach to defining pathogenicity of sequence variants incorporating family phenotype information and population genomic data, a molecular diagnosis was made in 15% of sudden arrhythmic deaths and 18% of cardiomyopathy deaths. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Home-based versus clinic-based specimen collection in the management of Chlamydia trachomatis and Neisseria gonorrhoeae infections.

PubMed

Fajardo-Bernal, Luisa; Aponte-Gonzalez, Johanna; Vigil, Patrick; Angel-Müller, Edith; Rincon, Carlos; Gaitán, Hernando G; Low, Nicola

2015-09-29

Chlamydia trachomatis (CT) and Neisseria gonorrhoeae (NG) are the most frequent causes of bacterial sexually transmitted infections (STIs). Management strategies that reduce losses in the clinical pathway from infection to cure might improve STI control and reduce complications resulting from lack of, or inadequate, treatment. To assess the effectiveness and safety of home-based specimen collection as part of the management strategy for Chlamydia trachomatis and Neisseria gonorrhoeae infections compared with clinic-based specimen collection in sexually-active people. We searched the Cochrane Sexually Transmitted Infections Group Specialized Register, the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, EMBASE and LILACS on 27 May 2015, together with the World Health Organization International Clinical Trials Registry (ICTRP) and ClinicalTrials.gov. We also handsearched conference proceedings, contacted trial authors and reviewed the reference lists of retrieved studies. Randomized controlled trials (RCTs) of home-based compared with clinic-based specimen collection in the management of C. trachomatis and N. gonorrhoeae infections. Three review authors independently assessed trials for inclusion, extracted data and assessed risk of bias. We contacted study authors for additional information. We resolved any disagreements through consensus. We used standard methodological procedures recommended by Cochrane. The primary outcome was index case management, defined as the number of participants tested, diagnosed and treated, if test positive. Ten trials involving 10,479 participants were included. There was inconclusive evidence of an effect on the proportion of participants with index case management (defined as individuals tested, diagnosed and treated for CT or NG, or both) in the group with home-based (45/778, 5.8%) compared with clinic-based (51/788, 6.5%) specimen collection (risk ratio (RR) 0.88, 95% confidence interval (CI) 0.60 to 1.29; 3 trials, I² = 0%, 1566 participants, moderate quality). Harms of home-based specimen collection were not evaluated in any trial. All 10 trials compared the proportions of individuals tested. The results for the proportion of participants completing testing had high heterogeneity (I² = 100%) and were not pooled. We could not combine data from individual studies looking at the number of participants tested because the proportions varied widely across the studies, ranging from 30% to 96% in home group and 6% to 97% in clinic group (low-quality evidence). The number of participants with positive test was lower in the home-based specimen collection group (240/2074, 11.6%) compared with the clinic-based group (179/967, 18.5%) (RR 0.72, 95% CI 0.61 to 0.86; 9 trials, I² = 0%, 3041 participants, moderate quality). Home-based specimen collection could result in similar levels of index case management for CT or NG infection when compared with clinic-based specimen collection. Increases in the proportion of individuals tested as a result of home-based, compared with clinic-based, specimen collection are offset by a lower proportion of positive results. The harms of home-based specimen collection compared with clinic-based specimen collection have not been evaluated. Future RCTs to assess the effectiveness of home-based specimen collection should be designed to measure biological outcomes of STI case management, such as proportion of participants with negative tests for the relevant STI at follow-up.

How to apply clinical cases and medical literature in the framework of a modified "failure mode and effects analysis" as a clinical reasoning tool--an illustration using the human biliary system.

PubMed

Wong, Kam Cheong

2016-04-06

Clinicians use various clinical reasoning tools such as Ishikawa diagram to enhance their clinical experience and reasoning skills. Failure mode and effects analysis, which is an engineering methodology in origin, can be modified and applied to provide inputs into an Ishikawa diagram. The human biliary system is used to illustrate a modified failure mode and effects analysis. The anatomical and physiological processes of the biliary system are reviewed. Failure is defined as an abnormality caused by infective, inflammatory, obstructive, malignancy, autoimmune and other pathological processes. The potential failures, their effect(s), main clinical features, and investigation that can help a clinician to diagnose at each anatomical part and physiological process are reviewed and documented in a modified failure mode and effects analysis table. Relevant medical and surgical cases are retrieved from the medical literature and weaved into the table. A total of 80 clinical cases which are relevant to the modified failure mode and effects analysis for the human biliary system have been reviewed and weaved into a designated table. The table is the backbone and framework for further expansion. Reviewing and updating the table is an iterative and continual process. The relevant clinical features in the modified failure mode and effects analysis are then extracted and included in the relevant Ishikawa diagram. This article illustrates an application of engineering methodology in medicine, and it sows the seeds of potential cross-pollination between engineering and medicine. Establishing a modified failure mode and effects analysis can be a teamwork project or self-directed learning process, or a mix of both. Modified failure mode and effects analysis can be deployed to obtain inputs for an Ishikawa diagram which in turn can be used to enhance clinical experiences and clinical reasoning skills for clinicians, medical educators, and students.

[Primary Aspergillus endocarditis. Apropos of a case and review of the international literature].

PubMed

Roux, J P; Koussa, A; Cajot, M A; Marquette, F; Goullard, L; Gosselin, B; Pol, A; Warembourg, H; Soots, G

1992-01-01

The authors report a case of primary aspergillus endocarditis with endophthalmitis and vertebral osteomyelitis. No underlying disease and no predisposing factors were found. Valve replacement plus combined antifungal chemotherapy proved to be effective as the patient is asymptomatic 18 months after the first symptoms. 48 cases of aspergillus endocarditis, without prior cardiac surgery have been reported in the literature. Aspergillus endocarditis was valvular or mural. Extracardiac dissemination was common but endophthalmitis and osteomyelitis were infrequent. In 11 cases, the diagnosis was made by histologic examination of embolectomy or ocular, skin biopsy tissue. All patients were febrile. Blood cultures showed no Aspergillus species. Clinical manifestations of endocarditis were described in less than fifty per cent of cases. Echocardiographic visualization of vegetations was obtained in 5 cases. Many patients experienced embolic phenomena. Mortality from Aspergillus endocarditis is extremely high (96%). Surgery is the main treatment, consisting of valve replacement. Antifungal chemotherapy should be combined. The proper duration and dosage and the combination of antifungal drugs have not been clearly defined.

Lessons learned from additional research analyses of unsolved clinical exome cases.

PubMed

Eldomery, Mohammad K; Coban-Akdemir, Zeynep; Harel, Tamar; Rosenfeld, Jill A; Gambin, Tomasz; Stray-Pedersen, Asbjørg; Küry, Sébastien; Mercier, Sandra; Lessel, Davor; Denecke, Jonas; Wiszniewski, Wojciech; Penney, Samantha; Liu, Pengfei; Bi, Weimin; Lalani, Seema R; Schaaf, Christian P; Wangler, Michael F; Bacino, Carlos A; Lewis, Richard Alan; Potocki, Lorraine; Graham, Brett H; Belmont, John W; Scaglia, Fernando; Orange, Jordan S; Jhangiani, Shalini N; Chiang, Theodore; Doddapaneni, Harsha; Hu, Jianhong; Muzny, Donna M; Xia, Fan; Beaudet, Arthur L; Boerwinkle, Eric; Eng, Christine M; Plon, Sharon E; Sutton, V Reid; Gibbs, Richard A; Posey, Jennifer E; Yang, Yaping; Lupski, James R

2017-03-21

Given the rarity of most single-gene Mendelian disorders, concerted efforts of data exchange between clinical and scientific communities are critical to optimize molecular diagnosis and novel disease gene discovery. We designed and implemented protocols for the study of cases for which a plausible molecular diagnosis was not achieved in a clinical genomics diagnostic laboratory (i.e. unsolved clinical exomes). Such cases were recruited to a research laboratory for further analyses, in order to potentially: (1) accelerate novel disease gene discovery; (2) increase the molecular diagnostic yield of whole exome sequencing (WES); and (3) gain insight into the genetic mechanisms of disease. Pilot project data included 74 families, consisting mostly of parent-offspring trios. Analyses performed on a research basis employed both WES from additional family members and complementary bioinformatics approaches and protocols. Analysis of all possible modes of Mendelian inheritance, focusing on both single nucleotide variants (SNV) and copy number variant (CNV) alleles, yielded a likely contributory variant in 36% (27/74) of cases. If one includes candidate genes with variants identified within a single family, a potential contributory variant was identified in a total of ~51% (38/74) of cases enrolled in this pilot study. The molecular diagnosis was achieved in 30/63 trios (47.6%). Besides this, the analysis workflow yielded evidence for pathogenic variants in disease-associated genes in 4/6 singleton cases (66.6%), 1/1 multiplex family involving three affected siblings, and 3/4 (75%) quartet families. Both the analytical pipeline and the collaborative efforts between the diagnostic and research laboratories provided insights that allowed recent disease gene discoveries (PURA, TANGO2, EMC1, GNB5, ATAD3A, and MIPEP) and increased the number of novel genes, defined in this study as genes identified in more than one family (DHX30 and EBF3). An efficient genomics pipeline in which clinical sequencing in a diagnostic laboratory is followed by the detailed reanalysis of unsolved cases in a research environment, supplemented with WES data from additional family members, and subject to adjuvant bioinformatics analyses including relaxed variant filtering parameters in informatics pipelines, can enhance the molecular diagnostic yield and provide mechanistic insights into Mendelian disorders. Implementing these approaches requires collaborative clinical molecular diagnostic and research efforts.

A case report of an incidental finding of a 46,XX, SRY-negative male with masculine phenotype during standard fertility workup with review of the literature and proposed immediate and long-term management guidance.

PubMed

Ryan, Neil A J; Akbar, Shahnaz

2013-04-01

To describe and explore the current literature on the rare genetic condition of 46,XX SRY-negative males. In addition, we propose comprehensive clinical guidelines in the management of this condition to aid fertility clinicians in their management of affected individuals. Case report with expert consensus-derived clinical management guidance. Fertility outpatient clinic at a tertiary referral center. A 40-year-old male found to have 46,XX disorder of sex development (DSD) on routine fertility screening. A review of the literature, expert consultation, and formulation of comprehensive clinical guidance. We report an interesting and rare case of a phenotypical male with the karyotype 46,XX DSD without an SRY region. There is limited literature exploring this condition, and its etiology remains poorly understood. There is currently no clinical guidance available for fertility clinicians to follow when treating this condition. A male phenotype with a 46 karyotype without the sex-defining region of the Y chromosome. A multidisciplinary approach should be adopted in the management of 46,XX individuals. All patients with azoospermia must be karyotyped. Sperm donation remains the only fertility treatment available. The 46,XX patients need lifelong followup led by an endocrinologist with regular imaging of the gonads, bone density measurements, baseline blood tests, and T supplementation. Psychological support is a key part of a holistic approach. Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Clinical case review: a method to improve identification of true clinical and radiographic pneumonia in children meeting the World Health Organization definition for pneumonia.

PubMed

Puumalainen, Taneli; Quiambao, Beatriz; Abucejo-Ladesma, Erma; Lupisan, Socorro; Heiskanen-Kosma, Tarja; Ruutu, Petri; Lucero, Marilla G; Nohynek, Hanna; Simoes, Eric A F; Riley, Ian

2008-07-21

The World Health Organization's (WHO) case definition for childhood pneumonia, composed of simple clinical signs of cough, difficult breathing and fast breathing, is widely used in resource poor settings to guide management of acute respiratory infections. The definition is also commonly used as an entry criteria or endpoint in different intervention and disease burden studies. A group of paediatricians conducted a retrospective review of clinical and laboratory data including C-reactive protein concentration and chest radiograph findings among Filipino children hospitalised in the Bohol Regional Hospital who were enrolled in a pneumococcal vaccine efficacy study and had an episode of respiratory disease fulfilling the WHO case definition for clinical pneumonia. Our aim was to evaluate which disease entities the WHO definition actually captures and what is the probable aetiology of respiratory infections among these episodes diagnosed in this population. Among the 12,194 children enrolled to the vaccine study we recorded 1,195 disease episodes leading to hospitalisation which fulfilled the WHO criteria for pneumonia. In total, 34% of these episodes showed radiographic evidence of pneumonia and 11% were classified as definitive or probable bacterial pneumonia. Over 95% of episodes of WHO-defined severe pneumonia (with chest indrawing) had an acute lower respiratory infection as final diagnosis whereas 34% of those with non-severe clinical pneumonia had gastroenteritis or other non-respiratory infection as main cause of hospitalisation. The WHO definition for severe pneumonia shows high specificity for acute lower respiratory infection and provides a tool to compare the total burden of lower respiratory infections in different settings. ISRCTN62323832.

Molecular essence and endocrine responsiveness of estrogen receptor-negative, progesterone receptor-positive, and HER2-negative breast cancer.

PubMed

Yu, Ke-Da; Jiang, Yi-Zhou; Hao, Shuang; Shao, Zhi-Ming

2015-10-05

The clinical significance of progesterone receptor (PgR) expression in estrogen receptor-negative (ER-) breast cancer is controversial. Herein, we systemically investigate the clinicopathologic features, molecular essence, and endocrine responsiveness of ER-/PgR+/HER2- phenotype. Four study cohorts were included. The first and second cohorts were from the Surveillance, Epidemiology, and End Results database (n = 67,932) and Fudan University Shanghai Cancer Center (n = 2,338), respectively, for clinicopathologic and survival analysis. The third and fourth cohorts were from two independent publicly available microarray datasets including 837 operable cases and 483 cases undergoing neoadjuvant chemotherapy, respectively, for clinicopathologic and gene-expression analysis. Characterized genes defining subgroups within the ER-/PgR+/HER2- phenotype were determined and further validated. Clinicopathologic features and survival outcomes of the ER-/PgR+ phenotype fell in between the ER+/PgR+ and ER-/PgR- phenotypes, but were more similar to ER-/PgR-. Among the ER-/PgR+ phenotype, 30% (95% confidence interval [CI] 17-42%, pooled by a fixed-effects method) were luminal-like and 59% (95% CI 45-72%, pooled by a fixed-effects method) were basal-like. We further refined the characterized genes for subtypes within the ER-/PgR+ phenotype and developed an immunohistochemistry-based method that could determine the molecular essence of ER-/PgR+ using three markers, TFF1, CK5, and EGFR. Either PAM50-defined or immunohistochemistry-defined basal-like ER-/PgR+ cases have a lower endocrine therapy sensitivity score compared with luminal-like ER-/PgR+ cases (P <0.0001 by Mann-Whitney test for each study set and P <0.0001 for pooled standardized mean difference in meta-analysis). Immunohistochemistry-defined basal-like ER-/PgR+ cases might not benefit from adjuvant endocrine therapy (log-rank P = 0.61 for sufficient versus insufficient endocrine therapy). The majority of ER-/PgR+/HER2- phenotype breast cancers are basal-like and associated with a lower endocrine therapy sensitivity score. Additional studies are needed to validate these findings.

Avoidable Technical and Clinical Denial Write-Off Management in Hospitals, Physician Offices, and Clinics.

PubMed

Terra, Sandra Marlene; Byrne, Amanda

2016-01-01

This article reviews the various types of technical and clinical denials that are usually "written off" and proposes strategies to prevent this loss. For purposes of this writing, avoidable technical and clinical denial write-offs are defined as revenue lost from "first-pass" denials rejections. For example, a procedure that requires an authorization is performed without having had an authorization obtained. After appeals and attempts to recoup the revenue, often unsuccessful, the organization ultimately "writes off" the revenue as not collectable. The question to ask is: Are these claims really not collectable or can actionable steps be taken to conserve these dollars and improve the bottom line? Acute care hospitals, physician offices, and clinics. In today's environment, the need to manage costs is ubiquitous. Cost management is on the priority list of all savvy health care executives, even if margins are healthy, revenue is under pressure, and the magnitude of cost reduction needed is greater than what past efforts have achieved. As hospitals and physician clinics prioritize areas for improvement, reduction in lost revenue-especially avoidable lost revenue-should be at the top of the list. Attentively managing claim denial write-offs will significantly reduce lost revenue. There is significant interface between case management and the revenue cycle. Developing core competencies for reducing clinical and technical denials should be a critical imperative in overall cost management strategy. Case managers are well placed to prevent these unnecessary losses through accurate status determination and clinical documentation review. These clinical professionals can also provide insight into work flow and other processes inherent in the preauthorization process.

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents

PubMed Central

Ferkol, Thomas W.; Davis, Stephanie D.; Lee, Hye-Seung; Rosenfeld, Margaret; Dell, Sharon D.; Sagel, Scott D.; Milla, Carlos; Olivier, Kenneth N.; Sullivan, Kelli M.; Zariwala, Maimoona A.; Pittman, Jessica E.; Shapiro, Adam J.; Carson, Johnny L.; Krischer, Jeffrey; Hazucha, Milan J.

2016-01-01

Rationale: Primary ciliary dyskinesia (PCD), a genetically heterogeneous, recessive disorder of motile cilia, is associated with distinct clinical features. Diagnostic tests, including ultrastructural analysis of cilia, nasal nitric oxide measurements, and molecular testing for mutations in PCD genes, have inherent limitations. Objectives: To define a statistically valid combination of systematically defined clinical features that strongly associates with PCD in children and adolescents. Methods: Investigators at seven North American sites in the Genetic Disorders of Mucociliary Clearance Consortium prospectively and systematically assessed individuals (aged 0–18 yr) referred due to high suspicion for PCD. The investigators defined specific clinical questions for the clinical report form based on expert opinion. Diagnostic testing was performed using standardized protocols and included nasal nitric oxide measurement, ciliary biopsy for ultrastructural analysis of cilia, and molecular genetic testing for PCD-associated genes. Final diagnoses were assigned as “definite PCD” (hallmark ultrastructural defects and/or two mutations in a PCD-associated gene), “probable/possible PCD” (no ultrastructural defect or genetic diagnosis, but compatible clinical features and nasal nitric oxide level in PCD range), and “other diagnosis or undefined.” Criteria were developed to define early childhood clinical features on the basis of responses to multiple specific queries. Each defined feature was tested by logistic regression. Sensitivity and specificity analyses were conducted to define the most robust set of clinical features associated with PCD. Measurements and Main Results: From 534 participants 18 years of age and younger, 205 were identified as having “definite PCD” (including 164 with two mutations in a PCD-associated gene), 187 were categorized as “other diagnosis or undefined,” and 142 were defined as having “probable/possible PCD.” Participants with “definite PCD” were compared with the “other diagnosis or undefined” group. Four criteria-defined clinical features were statistically predictive of PCD: laterality defect; unexplained neonatal respiratory distress; early-onset, year-round nasal congestion; and early-onset, year-round wet cough (adjusted odds ratios of 7.7, 6.6, 3.4, and 3.1, respectively). The sensitivity and specificity based on the number of criteria-defined clinical features were four features, 0.21 and 0.99, respectively; three features, 0.50 and 0.96, respectively; and two features, 0.80 and 0.72, respectively. Conclusions: Systematically defined early clinical features could help identify children, including infants, likely to have PCD. Clinical trial registered with ClinicalTrials.gov (NCT00323167). PMID:27070726

Bilateral Ossified Chronic Subdural Hematoma Presenting as Diabetes Insipidus-Case Report and Literature Review.

PubMed

Siddiqui, Saquib A; Singh, Pankaj Kumar; Sawarkar, Dattaraj; Singh, Manmohanjit; Sharma, Bhawani S

2017-02-01

Calcified chronic subdural hematomas are an occurrence rarely seen in neurosurgical clinical practice. And when they occur bilaterally, the radiologic image they present is fascinating, as is the clinical presentation, but their management may be challenging. They have been reported to present with a multitude of neurologic deficits but never with diabetes insipidus, which is described here. Due to the rarity of this pathology, the management protocol is not well defined, though there have been quite a few papers on this condition. This review article gathers information published over the years on this rare entity to suggest a treatment protocol. Copyright © 2016 Elsevier Inc. All rights reserved.

Scope of practice: freedom within limits.

PubMed

Schuiling, K D; Slager, J

2000-01-01

"Scope of practice" has a variety of meanings amongst midwives, other health professionals, health organizations, and consumers of midwifery care. For some, it refers to the Standards for the Practice of Midwifery; for others, it encompasses the legal base of practice; still others equate it with the components of the clinical parameters of practice. Because "scope of practice" is dynamic and parameters of practice can be impacted by many variables, succinctly defining "scope of practice" is difficult. This article provides a comprehensive discussion of the concept "scope of practice." Clinical scenarios are provided as case exemplars. The aim of this paper is to provide both new and experienced midwives with a substantive definition of the concept "scope of practice."

[A new psycho-dermatology clinic in Israel: our first year experience].

PubMed

Orion, Edith; Ben-Avi, Orit

2011-01-01

Psychodermatology involves the interrelationships between the skin and the mind, especially when considering the formation and evolution of certain common skin conditions. It appears that 30-40% of dermatology patients suffer from certain psychological problems as defined by the ICD-10, in a way that influences their disease severity and progression, as well as their quality of Life. Treatment of such cases requires a multi-disciplinary approach and should involve both a dermatologist and a mental health specialist working together In this article, the authors summarize the preliminary experience of the first year of the only psychodermatology clinic in Israel in several decades, work methods and patients' characteristics and preliminary conclusions.

Review of systems, physical examination, and routine tests for case-finding in ambulatory patients.

PubMed

Boland, B J; Wollan, P C; Silverstein, M D

1995-04-01

The screening value of the comprehensive review of systems and the complete physical examination in detecting unsuspected diseases for which therapeutic interventions are initiated has not been formally studied in ambulatory patients. The medical records of 100 randomly selected adult patients who had an ambulatory general medical evaluation at the Mayo Clinic in 1990-1991 were surveyed to compare review of systems and physical examination with routine laboratory tests, chest radiography, and electrocardiography as case-finding maneuvers. The main outcome measure was the therapeutic yield of each case-finding maneuver, defined as the proportion of maneuvers leading to a new therapy for a new clinically important diagnosis. The utilization rate of routine tests in the 100 patients (mean age: 59 +/- 16 years; 58% women) was high, ranging from 77 to 98%. Overall, the case-finding maneuvers led to 36 unsuspected clinically important diagnoses and resulted in 25 new therapeutic interventions. Higher therapeutic yield was observed for review of systems (7%), physical examination (5%), and lipid screening (9.2%) than for chemistry group (2.2%), complete blood count (1.8%), thyroid tests (1.5%), urinalysis (1.1%), electrocardiography (0%), or chest radiography (0%). The number of therapeutic interventions was not associated with patient's age (P = 0.55), sex (P = 0.88), comorbidity (P = 0.30) or with the time interval since the last general medical evaluation (P = 0.12). Based on therapeutic yield, these data suggest that review of systems and physical examination are valuable case-finding maneuvers in the periodic medical evaluation of ambulatory patients.

Distinct Clinical and Epidemiological Features of Tuberculosis in New York City Caused by the RDRio Mycobacterium tuberculosis Sublineage

PubMed Central

Weisenberg, Scott A.; Gibson, Andrea L.; Huard, Richard C.; Kurepina, Natalia; Bang, Heejung; Lazzarini, Luiz C O.; Chiu, Yalin; Li, Jiehui; Ahuja, Shama; Driscoll, Jeff; Kreiswirth, Barry N.; Ho, John L.

2011-01-01

Background Genetic tracking of Mycobacterium tuberculosis is a cornerstone of tuberculosis (TB) control programs. The RDRio M. tuberculosis sublineage was previously associated with TB in Brazil. We investigated 3847 M. tuberculosis isolates and registry data from New York City (NYC) (2001–2005) to: 1) affirm the position of RDRio strains within the M. tuberculosis phylogenetic structure, 2) determine its prevalence, and 3) define transmission, demographic, and clinical characteristics associated with RDRio TB. Methods Isolates classified as RDRio or non-RDRio M. tuberculosis by multiplex PCR were further classified as clustered (≥2 isolates) or unique based primarily upon IS6110-RFLP patterns and lineage-specific cluster proportions were calculated. The secondary case rate of RDRio was compared with other prevalent M. tuberculosis lineages. Genotype data were merged with the data from the NYC TB Registry to assess demographic and clinical characteristics. Results RDRio strains were found to: 1) be restricted to the Latin American-Mediterranean family, 2) cause approximately 8% of TB cases in NYC, and 3) be associated with heightened transmission as shown by: i) a higher cluster proportion compared to other prevalent lineages, ii) a higher secondary case rate, and iii) cases in children. Furthermore, RDRio strains were significantly associated with US-born Black or Hispanic race, birth in Latin American and Caribbean countries, and isoniazid resistance. Conclusions The RDRio genotype is a single M. tuberculosis strain population that is emerging in NYC. The findings suggest that expanded RDRio case and exposure identification could be of benefit due to its association with heightened transmission. PMID:21835266

Clinical, Epidemiologic, Histopathologic and Molecular Features of an Unexplained Dermopathy

PubMed Central

Pearson, Michele L.; Selby, Joseph V.; Katz, Kenneth A.; Cantrell, Virginia; Braden, Christopher R.; Parise, Monica E.; Paddock, Christopher D.; Lewin-Smith, Michael R.; Kalasinsky, Victor F.; Goldstein, Felicia C.; Hightower, Allen W.; Papier, Arthur; Lewis, Brian; Motipara, Sarita; Eberhard, Mark L.

2012-01-01

Background Morgellons is a poorly characterized constellation of symptoms, with the primary manifestations involving the skin. We conducted an investigation of this unexplained dermopathy to characterize the clinical and epidemiologic features and explore potential etiologies. Methods A descriptive study was conducted among persons at least 13 years of age and enrolled in Kaiser Permanente Northern California (KPNC) during 2006–2008. A case was defined as the self-reported emergence of fibers or materials from the skin accompanied by skin lesions and/or disturbing skin sensations. We collected detailed epidemiologic data, performed clinical evaluations and geospatial analyses and analyzed materials collected from participants' skin. Results We identified 115 case-patients. The prevalence was 3.65 (95% CI = 2.98, 4.40) cases per 100,000 enrollees. There was no clustering of cases within the 13-county KPNC catchment area (p = .113). Case-patients had a median age of 52 years (range: 17–93) and were primarily female (77%) and Caucasian (77%). Multi-system complaints were common; 70% reported chronic fatigue and 54% rated their overall health as fair or poor with mean Physical Component Scores and Mental Component Scores of 36.63 (SD = 12.9) and 35.45 (SD = 12.89), respectively. Cognitive deficits were detected in 59% of case-patients and 63% had evidence of clinically significant somatic complaints; 50% had drugs detected in hair samples and 78% reported exposure to solvents. Solar elastosis was the most common histopathologic abnormality (51% of biopsies); skin lesions were most consistent with arthropod bites or chronic excoriations. No parasites or mycobacteria were detected. Most materials collected from participants' skin were composed of cellulose, likely of cotton origin. Conclusions This unexplained dermopathy was rare among this population of Northern California residents, but associated with significantly reduced health-related quality of life. No common underlying medical condition or infectious source was identified, similar to more commonly recognized conditions such as delusional infestation. PMID:22295070

Clinical, epidemiologic, histopathologic and molecular features of an unexplained dermopathy.

PubMed

Pearson, Michele L; Selby, Joseph V; Katz, Kenneth A; Cantrell, Virginia; Braden, Christopher R; Parise, Monica E; Paddock, Christopher D; Lewin-Smith, Michael R; Kalasinsky, Victor F; Goldstein, Felicia C; Hightower, Allen W; Papier, Arthur; Lewis, Brian; Motipara, Sarita; Eberhard, Mark L

2012-01-01

Morgellons is a poorly characterized constellation of symptoms, with the primary manifestations involving the skin. We conducted an investigation of this unexplained dermopathy to characterize the clinical and epidemiologic features and explore potential etiologies. A descriptive study was conducted among persons at least 13 years of age and enrolled in Kaiser Permanente Northern California (KPNC) during 2006-2008. A case was defined as the self-reported emergence of fibers or materials from the skin accompanied by skin lesions and/or disturbing skin sensations. We collected detailed epidemiologic data, performed clinical evaluations and geospatial analyses and analyzed materials collected from participants' skin. We identified 115 case-patients. The prevalence was 3.65 (95% CI = 2.98, 4.40) cases per 100,000 enrollees. There was no clustering of cases within the 13-county KPNC catchment area (p = .113). Case-patients had a median age of 52 years (range: 17-93) and were primarily female (77%) and Caucasian (77%). Multi-system complaints were common; 70% reported chronic fatigue and 54% rated their overall health as fair or poor with mean Physical Component Scores and Mental Component Scores of 36.63 (SD = 12.9) and 35.45 (SD = 12.89), respectively. Cognitive deficits were detected in 59% of case-patients and 63% had evidence of clinically significant somatic complaints; 50% had drugs detected in hair samples and 78% reported exposure to solvents. Solar elastosis was the most common histopathologic abnormality (51% of biopsies); skin lesions were most consistent with arthropod bites or chronic excoriations. No parasites or mycobacteria were detected. Most materials collected from participants' skin were composed of cellulose, likely of cotton origin. This unexplained dermopathy was rare among this population of Northern California residents, but associated with significantly reduced health-related quality of life. No common underlying medical condition or infectious source was identified, similar to more commonly recognized conditions such as delusional infestation.

Acute quadriplegic myopathy with myosin-deficient muscle fibres after liver transplantation: defining the clinical picture and delimiting the risk factors.

PubMed

Miró, O; Salmerón, J M; Masanés, F; Alonso, J R; Graus, F; Mas, A; Grau, J M

1999-04-27

In the last few years, rare cases of acute quadriplegic myopathy (AQM*) with myosin-deficient muscle fibres occurring after solid organ transplantation has been reported. The aim of the present study was to review all cases of AQM with myosin deficient fibres seen at our institution among a large series of patients after orthotopic liver transplants (OLT), with special attention to clinical aspects and associated risk factors. Additionally, an extensive review of all ultrastructurally demonstrated cases of AQM in transplant recipients is also included. Among patients involved in 281 consecutive liver transplant procedures performed in a 4-year period, 3 men and 1 woman developed an arreflexic, flaccid quadriplegia in the immediate postoperative period of OLT. After ruling out other causes of weakness, a muscle biopsy was performed and a loss of thick (myosin) filaments was confirmed by ultrastructural analysis in all cases. Accurate clinical, epidemiological, and evolutive data were recorded. Corticosteroids had been used at usual dosage given to liver transplant recipients; all four patients had several intra- and postoperative complications leading to receiving significantly higher amounts of hemoderivates, to develop renal failure in all cases, and to require a significantly higher number of reoperations within a few days after transplantation than our contemporaneous global series of liver transplant recipients. AQM patients required a significantly longer intensive care unit and hospital stay. Muscular recovery was the rule, but currently a mild myopathic gait remains in three patients. These and other reported cases of AQM do not histologically and clinically differ from AQM seen in other critically ill patients who have not had transplants. Patients with a complicated intra- and postoperative course of OLT who develop newly acquired acute muscle weakness should be suspected as having acute AQM with myosin-deficient muscle fibres. In this setting, differential diagnosis with other causes of weakness should be carried out, because the prognosis of this myopathy is good with early muscle rehabilitation therapy.

Mentally abnormal homicide in New Zealand as defined by legal and clinical criteria: a national study.

PubMed

Simpson, Alexander I F; Skipworth, Jeremy; McKenna, Brian; Moskowitz, Andrew; Barry-Walsh, Justin

2006-09-01

Homicides by people with mental illness have been studied using either clinical or legal categorization of the homicide as abnormal. No previous study has employed both definitions in the same population. A retrospective study of all homicides in New Zealand between 1988 and 2000 considered mentally abnormal homicide using a legal definition (when the courts deemed a contribution of mental illness was present) and a clinical definition (defined as the presence of a discharge diagnosis from inpatient mental health treatment) of 'mentally abnormal'. Rates, characteristics and time trends were investigated. Of the 844 cases, 7.1% met legal criteria for being mentally abnormal, while 7.7% had ever received a diagnosis for a psychotic illness, and a further 14.5% had been admitted to a psychiatric hospital for any other reason. The majority (60%) of perpetrators with a psychotic diagnosis received a mental health disposition from the court. Of these, 60% were first diagnosed with their psychotic illness prior to the homicide, while 28% were first diagnosed at the time of the offence and a further 12% after imprisonment. Of all those who received a psychotic diagnosis, 89% had post-conviction admissions or a mental health disposition. Legal and clinical definitions of mentally abnormal homicide detect similar rates of mentally abnormal homicide, but illustrate somewhat different dimensions of the relationship between mental illness and homicide.

TIL 2.0: More effective and predictive T-cell products by enrichment for defined antigen specificities.

PubMed

Schober, Kilian; Busch, Dirk H

2016-06-01

Adoptive transfer of in vitro-expanded T cells derived from tumor-infiltrating lymphocytes (TILs) in melanoma patients started the era of tumor immunotherapy three decades ago. The approach has demonstrated remarkable clinical responses in several studies since. Reinfusion of TIL-derived T cells represents a highly personalized form of immunotherapy, taking into account the enormous interindividual tumor heterogeneity. However, despite its successes, TIL therapy does not lead to objective clinical responses in all cases. It is thus crucial to find out which tumor antigens are particularly valuable targets and to develop strategies to enhance the reactivity of T-cell products toward them. In this issue of the European Journal of Immunology, Kelderman et al. [Eur. J. Immunol. 2016. 46: 1351-1360] present a platform for the generation of antigen-specific TIL therapy. Combining recently developed technologies for clinical identification and enrichment of antigen-specific CD8(+) T cells, such as MHC Streptamers and UV-mediated peptide exchange, the authors could enrich T-cell populations with defined antigen specificities from melanoma-derived TILs. This T-cell product showed higher reactivity against autologous tumor cell lines than bulk TIL-derived T cells. The novel platform might enable the generation of more effective and predictable TIL-derived T-cell products for future clinical applications. © 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Unilateral hypoplasia of the trapezius muscle in a 10-year-old boy: a case report.

PubMed

Witbreuk, Melinda M; Lambert, Simon M; Eastwood, Deborah M

2007-05-01

We present a 10-year-old boy with a partial absence of or a hypoplastic right trapezius. At present, his only concern is shoulder asymmetry. No family history of significance and no history of trauma exist. His radiographs confirm changes in bony anatomy secondary to the altered balance of muscle forces on the skeleton. We have not identified any other clinical report of a partial or total absence of the trapezius although it has been defined in cadaveric cases. Similarly, some papers have described an absence of trapezius in combination with other abnormalities. In these cases, an abnormal blood supply has been described in contrast to the normal neurovascular anatomy identified in the cadaveric cases with partial absence. If this patient develops painful disability, the Eden-Lange procedure may be an appropriate treatment as for patients with spinal accessory nerve palsies.

Self-enforcing Feedback Activation between BCL6 and Pre-B Cell Receptor Signaling Defines a Distinct Subtype of Acute Lymphoblastic Leukemia

PubMed Central

Geng, Huimin; Hurtz, Christian; Lenz, Kyle B.; Chen, Zhengshan; Baumjohann, Dirk; Thompson, Sarah; Goloviznina, Natalya; Chen, Wei-Yi; Huan, Jianya; LaTocha, Dorian; Ballabio, Erica; Xiao, Gang; Lee, Jae-Woong; Deucher, Anne; Qi, Zhongxia; Park, Eugene; Huang, Chuanxin; Nahar, Rahul; Kweon, Soo-Mi; Shojaee, Seyedmehdi; Chan, Lai N.; Yu, Jingwei; Kornblau, Steven M.; Bijl, Janetta J.; Ye, B. Hilda; Ansel, Mark; Paietta, Elisabeth; Melnick, Ari; Hunger, Stephen P.; Kurre, Peter; Tyner, Jeffrey W.; Loh, Mignon L.; Roeder, Robert G.; Druker, Brian J.; Burger, Jan. A.; Milne, Thomas A.; Chang, Bill H.; Müschen, Markus

2015-01-01

SUMMARY Studying 830 pre-B ALL cases from four clinical trials, we found that human ALL can be divided into two fundamentally distinct subtypes based on pre-BCR function. While absent in the majority of ALL cases, tonic pre-BCR signaling was found in 112 cases (13.5%). In these cases, tonic pre-BCR signaling induced activation of BCL6, which in turn increased pre-BCR signaling output at the transcriptional level. Interestingly, inhibition of pre-BCR-related tyrosine kinases reduced constitutive BCL6 expression and selectively killed patient-derived pre-BCR+ ALL cells. These findings identify a genetically and phenotypically distinct subset of human ALL that critically depends on tonic pre-BCR signaling. In vivo treatment studies suggested that pre-BCR tyrosine kinase inhibitors are useful for the treatment of patients with pre-BCR+ ALL. PMID:25759025

Does root canal treatment in necrotic pulp or retreatment cases with periapical lesions require anaesthesia? An in vivo clinical study.

PubMed

Kfir, A; Blau-Venezia, N; Tsesis, I; Goldberger, T; Metzger, Z

2017-04-01

To examine whether local anaesthesia is required for treating teeth with necrotic pulps (TNP) and retreatment cases (RCs) associated with periapical lesions. Root canal treatment was performed in TNP and RCs without the administration of local anaesthesia. Patients were assured that if they experienced pain, local anaesthesia would be provided. Eighty canals, 40 TNP and 40 RCs, were included in the study. Two length measurements were performed: one using an electronic apex locator (EAL), which was defined as the electronic length (EL), and the second, the length at which the patient first reported that a size 15 file was touching the periapical tissues, which was defined as the periodontal length (PL). The difference between these two measurements (Δ = PL - EL) was the parameter studied. Statistical analysis was conducted using two-way anova and paired t-tests. Working length (WL) was defined in this study as being 0.5 mm short of the EL. EL was shorter than PL in 96% of cases. The mean difference between measurements was 0.78 (±0.11) mm in the TNP group and 0.63 (±0.15) mm in the RC group; the difference was not significant. The distances between the WL and PL were thus 1.28 and 1.13 mm, respectively. In none of the 80 canals did the patient experience any pain, either during the measurements or during the instrumentation procedures. When EALs are used, local anaesthesia may not be required for root canal treatment in teeth with necrotic pulps and retreatment cases associated with periapical lesions. © 2016 International Endodontic Journal. Published by John Wiley & Sons Ltd.

Use of Simvastatin and Risk of Acute Pancreatitis: A Nationwide Case-Control Study in Taiwan.

PubMed

Lin, Chih-Ming; Liao, Kuan-Fu; Lin, Cheng-Li; Lai, Shih-Wei

2017-07-01

The correlation between simvastatin use and acute pancreatitis is explored. A case-control study was conducted to analyze claim data from the Taiwan National Health Insurance Program. The case group comprising a total of 3882 subjects aged 20 to 84 years with their first acute pancreatitis episode occurring between 1998 and 2011 formed the case group, against 3790 randomly selected controls matched for sex, age, comorbidities, and index year of acute pancreatitis diagnosis. Recent use of simvastatin was defined as subjects whose last remaining simvastatin tablet was noted ≤7 days before the date of acute pancreatitis diagnosis. Remote use of simvastatin was defined as subjects whose last remaining 1 tablet for simvastatin was noted >7 days before the date of acute pancreatitis diagnosis. Never use of simvastatin was defined as subjects who had never been prescribed simvastatin. A multivariable unconditional logistic regression model was used to estimate the odds ratio and 95%CI to explore the correlation between simvastatin use and acute pancreatitis. After adjustment for confounders, multivariable logistic regression analysis revealed that the adjusted odds ratio of acute pancreatitis was 1.3 for subjects with recent use of simvastatin (95%CI 1.02, 1.73), when compared with those with never use of simvastatin. The crude odds ratio decreased to 1.1 for those with remote use of simvastatin (95%CI 0.93, 1.34) but without statistical significance. Recent use of simvastatin is associated with acute pancreatitis. Clinicians should consider the possibility of simvastatin-associated acute pancreatitis for patients presenting for acute pancreatitis without known cause. © 2017, The American College of Clinical Pharmacology.

Clinical spectrum of hypopituitarism in India: A single center experience

PubMed Central

Gundgurthi, Abhay; Garg, M. K.; Bhardwaj, Reena; Brar, Karninder S.; Kharb, Sandeep; Pandit, Aditi

2012-01-01

Objectives: There is paucity of information regarding clinical profile of hypopituitarism from India. We report the clinical profile of hypopituitarism from a tertiary center in North India. Materials and Methods: This study was carried out in patients attending our endocrine center between January 2010 and December 2011. All new patients were studied prospectively and those registered before January 2010 retrospectively. Relevant clinical, hormonal, and imaging data were collected. Dynamic testing for pituitary functions was carried out as necessary. Hormonal deficiencies were defined as per prevailing recommendations. Results: This study included 113 subjects. The mean age was 38.6 ± 17.8 years (range, 4 – 76 years). There were 78 (69%) males and 35 females (31%). There were 22 subjects aged ≤18 years (childhood and adolescence) and 91 adults (>18 years). Visual disturbances were the most common presenting complaint (33%), though headache was the most common symptom (81%). Fifteen percent presented with pituitary apoplexy. Tumors comprised of 84% of cases. Hypogonadism (97%) was the most common abnormality seen followed by hypothyroidism (83.2%), hypoadrenalism (79.6%), growth hormone deficiency (88.1% of the 42 patients tested), and diabetes insipidus (13.3%). Panhypopituitarism was seen in 104 (92%) patients. There were no cases of hypopituitarism secondary to traumatic brain injury, subarachnoid hemorrhage, central nervous system infections, or cranial irradiation to extrasellar tumors. Conclusion: The most common cause of hypopituitarism at tertiary care center is pituitary tumors and the commonest presenting complaint is visual symptoms. Panhypopituitarism is present in 92% cases. PMID:23087868

A retrospective series of gut aspergillosis in haematology patients.

PubMed

Kazan, E; Maertens, J; Herbrecht, R; Weisser, M; Gachot, B; Vekhoff, A; Caillot, D; Raffoux, E; Fagot, T; Reman, O; Isnard, F; Thiebaut, A; Bretagne, S; Cordonnier, C

2011-04-01

Gut invasive aspergillosis is an extremely rare infection in immunocompromised patients. The goal of this retrospective multicentre study is to report on cases of gut aspergillosis in haematology patients, including clinical presentation, risk factors, and outcome. Twenty-one patients from nine centres were identified. Eight had isolated gut aspergillosis, with no evidence of other infected sites, and 13 had disseminated aspergillosis. Thirteen patients had acute leukaemia. Nine were allogeneic stem cell transplant recipients. Clinical symptoms and imaging were poorly specific. The galactomannan antigenaemia test result was positive in 16/25 (64%) patients, including in four of the eight cases of isolated gut aspergillosis. Five of 21 patients had a dietary regimen rich in spices, suggesting that, in these cases, food could have been the source of gut colonization, and then of a primary gut Aspergillus lesion. The diagnosis was made post-mortem in six patients. The mortality rate in the remaining patients at 12 weeks was 7/15 (47%). Gut aspergillosis is probably misdiagnosed and underestimated in haematology patients, owing to the poor specificity of symptoms and imaging. Patients with a persistently positive galactomannan antigenaemia finding that is unexplained by respiratory lesions should be suspected of having gut aspergillosis in the presence of abdominal symptoms, and be quickly investigated. In the absence of severe abdominal complications leading to surgery and resection of the lesions, the optimal treatment is not yet defined. Clinical Microbiology and Infection © 2010 European Society of Clinical Microbiology and Infectious Diseases. No claim to original US government works.

Prenatal Antidepressant Exposure: Clinical and Preclinical Findings

PubMed Central

Bourke, Chase H.; Stowe, Zachary N.

2014-01-01

Pharmacological treatment of any maternal illness during pregnancy warrants consideration of the consequences of the illness and/or medication for both the mother and unborn child. In the case of major depressive disorder, which affects up to 10–20% of pregnant women, the deleterious effects of untreated depression on the offspring can be profound and long lasting. Progress has been made in our understanding of the mechanism(s) of action of antidepressants, fetal exposure to these medications, and serotonin’s role in development. New technologies and careful study designs have enabled the accurate sampling of maternal serum, breast milk, umbilical cord serum, and infant serum psychotropic medication concentrations to characterize the magnitude of placental transfer and exposure through human breast milk. Despite this progress, the extant clinical literature is largely composed of case series, population-based patient registry data that are reliant on nonobjective means and retrospective recall to determine both medication and maternal depression exposure, and limited inclusion of suitable control groups for maternal depression. Conclusions drawn from such studies often fail to incorporate embryology/neurotransmitter ontogeny, appropriate gestational windows, or a critical discussion of statistically versus clinically significant. Similarly, preclinical studies have predominantly relied on dosing models, leading to exposures that may not be clinically relevant. The elucidation of a defined teratological effect or mechanism, if any, has yet to be conclusively demonstrated. The extant literature indicates that, in many cases, the benefits of antidepressant use during pregnancy for a depressed pregnant woman may outweigh potential risks. PMID:24567054

Adult Onset Asthma and Periocular Xanthogranuloma (AAPOX), a Rare Entity With a Strong Link to IgG4-Related Disease

PubMed Central

London, Jonathan; Martin, Antoine; Soussan, Michael; Badelon, Isabelle; Gille, Thomas; Uzunhan, Yurdagul; Giroux-Leprieur, Bénédicte; Warzocha, Ursula; Régent, Alexis; Galatoire, Olivier; Dhote, Robin; Abad, Sébastien

2015-01-01

Abstract Adult onset asthma and periocular xanthogranuloma (AAPOX) is a rare non-Langerhans histiocytosis characterized histopathologically by a periocular infiltration of foamy histiocytes and Touton giant cells. Benign hyperplasia with plasma cell infiltration is classically described in eyelids or lymph nodes of AAPOX patients. It is also a characteristic feature of IgG4-related disease (IgG4-RD), a new entity defined by an IgG4-bearing plasma cell infiltration of organs. To determine if AAPOX syndrome shares clinical, biological, and histopathological characteristics with IgG4-RD, we used the comprehensive clinical diagnostic criteria for IgG4-RD in a retrospective case series of three consecutive patients with histologically-proven AAPOX. Patients who were diagnosed with AAPOX at a French academic referral center for orbital inflammation between November 1996 and March 2013 were enrolled. Biopsies from ocular adnexa or other organs were systematically reexamined. For each patient, clinical and serological data, radiologic findings, and treatment were retrospectively analyzed. Two AAPOX patients fulfilled all of the diagnostic criteria for a definite IgG4-RD. One patient who lacked the serological criteria fulfilled the criteria of a probable IgG4-RD. These 3 cases of AAPOX patients fulfilled the IgG4-RD comprehensive clinical diagnostic criteria. To our knowledge, this is the first observational case report study to clearly show a strong relationship between IgG4-RD and AAPOX syndrome. PMID:26512617

Architecture design of a generic centralized adjudication module integrated in a web-based clinical trial management system

PubMed Central

Zhao, Wenle; Pauls, Keith

2015-01-01

Background Centralized outcome adjudication has been used widely in multi-center clinical trials in order to prevent potential biases and to reduce variations in important safety and efficacy outcome assessments. Adjudication procedures could vary significantly among different studies. In practice, the coordination of outcome adjudication procedures in many multicenter clinical trials remains as a manual process with low efficiency and high risk of delay. Motivated by the demands from two large clinical trial networks, a generic outcome adjudication module has been developed by the network’s data management center within a homegrown clinical trial management system. In this paper, the system design strategy and database structure are presented. Methods A generic database model was created to transfer different adjudication procedures into a unified set of sequential adjudication steps. Each adjudication step was defined by one activate condition, one lock condition, one to five categorical data items to capture adjudication results, and one free text field for general comments. Based on this model, a generic outcome adjudication user interface and a generic data processing program were developed within a homegrown clinical trial management system to provide automated coordination of outcome adjudication. Results By the end of 2014, this generic outcome adjudication module had been implemented in 10 multicenter trials. A total of 29 adjudication procedures were defined with the number of adjudication steps varying from 1 to 7. The implementation of a new adjudication procedure in this generic module took an experienced programmer one or two days. A total of 7,336 outcome events had been adjudicated and 16,235 adjudication step activities had been recorded. In a multicenter trial, 1144 safety outcome event submissions went through a three-step adjudication procedure and reported a median of 3.95 days from safety event case report form submission to adjudication completion. In another trial, 277 clinical outcome events were adjudicated by a six-step procedure and took a median of 23.84 days from outcome event case report form submission to adjudication procedure completion. Conclusions A generic outcome adjudication module integrated in the clinical trial management system made the automated coordination of efficacy and safety outcome adjudication a reality. PMID:26464429