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

PubMed

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

2016-01-01

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

Catatonia as presenting clinical feature of subacute sclerosing panencephalitis

PubMed Central

Dayal, Prabhoo; Balhara, Yatan Pal Singh

2014-01-01

Catatonia is not a usual clinical presentation of subacute sclerosing panencephalitis (SSPE), especially in the initial stages of illness. However, there is only one reported case of SSPE presenting as catatonia among children. In this report, however, there were SSPE-specific changes on EEG and the catatonia failed to respond to lorazepam. We describe a case of SSPE in a child presenting as catatonia that presented with clinical features of catatonia and did not have typical EEG findings when assessed at first contact. He responded to lorazepam and EEG changes emerged during the course of follow-up. PMID:24891908

Chronic cough: clinical characteristics and etiologies of 510 cases.

PubMed

Jiang, Guiyuan; Huang, Xinying; Li, Tianlin; Xu, Dongping

2016-12-20

To investigate the clinical features and underlying etiologies of chronic cough (CC). Five hundred and ten CC patients were enrolled. The phases, characteristics and associated clinical manifestations of CC among the gastroesophageal reflux cough (GERC), cough-variant asthma (CVA), and upper airway cough syndrome (UACS) groups were compared, and the diagnostic values of each group were evaluated by multiple regression analysis. In the 510 patients, 404 had CC with single etiology-GERC (n = 175), CVA (n = 134), and UACS (n = 95). The characteristic features of GERC included gastric acid backflow symptoms such as sour-tasting regurgitation, heartburn, endoscopic esophagitis, poststimulation cough, frequent throat clearing, daytime mono-cough, and feelings of heaviness and pain in the chest. Patients with CVA typically exhibited sensitivity to smog and other irritants; the cough occurred mostly at night, and was associated with positive bronchodilator and provocation test results. The typical features of UACS included a history and/or symptoms of rhinitis, retropharyngeal postnasal drip, and wet cough occurring mostly during the daytime. The diagnostic specificities of above factors were >70%. The most common causes of CC include GERC, CVA, and UACS, and their diagnosis is based on the characteristics of the underlying disease.

Sclerosing Cholangitis: Clinicopathologic Features, Imaging Spectrum, and Systemic Approach to Differential Diagnosis.

PubMed

Seo, Nieun; Kim, So Yeon; Lee, Seung Soo; Byun, Jae Ho; Kim, Jin Hee; Kim, Hyoung Jung; Lee, Moon-Gyu

2016-01-01

Sclerosing cholangitis is a spectrum of chronic progressive cholestatic liver disease characterized by inflammation, fibrosis, and stricture of the bile ducts, which can be classified as primary and secondary sclerosing cholangitis. Primary sclerosing cholangitis is a chronic progressive liver disease of unknown cause. On the other hand, secondary sclerosing cholangitis has identifiable causes that include immunoglobulin G4-related sclerosing disease, recurrent pyogenic cholangitis, ischemic cholangitis, acquired immunodeficiency syndrome-related cholangitis, and eosinophilic cholangitis. In this review, we suggest a systemic approach to the differential diagnosis of sclerosing cholangitis based on the clinical and laboratory findings, as well as the typical imaging features on computed tomography and magnetic resonance (MR) imaging with MR cholangiography. Familiarity with various etiologies of sclerosing cholangitis and awareness of their typical clinical and imaging findings are essential for an accurate diagnosis and appropriate management.

Endemic chronic kidney disease of unknown etiology in Sri Lanka: Correlation of pathology with clinical stages

PubMed Central

Wijetunge, S.; Ratnatunga, N. V. I.; Abeysekera, T. D. J.; Wazil, A. W. M.; Selvarajah, M.

2015-01-01

Chronic kidney disease of unknown etiology (CKDU) is endemic among the rural farming communities in several localities in and around the North Central region of Sri Lanka. This is an interstitial type renal disease and typically has an insidious onset and slow progression. This study was conducted to identify the pathological features in the different clinical stages of CKDU. This is a retrospective study of 251 renal biopsies identified to have a primary interstitial disease from regions endemic for CKDU. Pathological features were assessed and graded in relation to the clinical stage. The mean age of those affected by endemic CKDU was 37.3 ± 12.5 years and the male to female ratio was 3.3:1. The predominant feature of stage I disease was mild and moderate interstitial fibrosis; most did not have interstitial inflammation. The typical stage II disease had moderate interstitial fibrosis with or without mild interstitial inflammation. Stage III disease had moderate and severe interstitial fibrosis, moderate interstitial inflammation, tubular atrophy and some glomerulosclerosis. Stage IV disease typically had severe interstitial fibrosis and inflammation, tubular atrophy and glomerulosclerosis. The mean age of patients with stage I disease (27 ± 10.8 years) was significantly lower than those of the other stages. About 79.2%, 55%, 49.1% and 50% in stage I, II, III and IV disease respectively were asymptomatic at the time of biopsy. PMID:26628792

Enabling Low-Power, Multi-Modal Neural Interfaces Through a Common, Low-Bandwidth Feature Space.

PubMed

Irwin, Zachary T; Thompson, David E; Schroeder, Karen E; Tat, Derek M; Hassani, Ali; Bullard, Autumn J; Woo, Shoshana L; Urbanchek, Melanie G; Sachs, Adam J; Cederna, Paul S; Stacey, William C; Patil, Parag G; Chestek, Cynthia A

2016-05-01

Brain-Machine Interfaces (BMIs) have shown great potential for generating prosthetic control signals. Translating BMIs into the clinic requires fully implantable, wireless systems; however, current solutions have high power requirements which limit their usability. Lowering this power consumption typically limits the system to a single neural modality, or signal type, and thus to a relatively small clinical market. Here, we address both of these issues by investigating the use of signal power in a single narrow frequency band as a decoding feature for extracting information from electrocorticographic (ECoG), electromyographic (EMG), and intracortical neural data. We have designed and tested the Multi-modal Implantable Neural Interface (MINI), a wireless recording system which extracts and transmits signal power in a single, configurable frequency band. In prerecorded datasets, we used the MINI to explore low frequency signal features and any resulting tradeoff between power savings and decoding performance losses. When processing intracortical data, the MINI achieved a power consumption 89.7% less than a more typical system designed to extract action potential waveforms. When processing ECoG and EMG data, the MINI achieved similar power reductions of 62.7% and 78.8%. At the same time, using the single signal feature extracted by the MINI, we were able to decode all three modalities with less than a 9% drop in accuracy relative to using high-bandwidth, modality-specific signal features. We believe this system architecture can be used to produce a viable, cost-effective, clinical BMI.

The Efficacy of Acute Electroconvulsive Therapy in Atypical Depression

PubMed Central

Husain, Mustafa M.; McClintock, Shawn M.; Rush, A. John; Knapp, Rebecca G.; Fink, Max; Rummans, Teresa A.; Rasmussen, Keith; Claassen, Cynthia; Petrides, Georgios; Biggs, Melanie M.; Mueller, Martina; Sampson, Shirlene; Bailine, Samuel H.; Lisanby, Sarah H.; Kellner, Charles H.

2013-01-01

Objective This study examined the characteristics and outcomes of patients with major depressive disorder (MDD), with or without atypical features, who were treated with acute bilateral electroconvulsive therapy (ECT). Method Analyses were conducted with 489 patients who met DSM-IV criteria for MDD. Subjects were identified as typical or atypical on the basis of the Structured Clinical Interview for DSM-IV obtained at baseline prior to ECT. Depression symptom severity was measured by the 24-item Hamilton Rating Scale for Depression (HAM-D24) and the 30-item Inventory of Depressive Symptomatology–Self-Report (IDS-SR30). Remission was defined as at least a 60% decrease from baseline in HAM-D24 score and a total score of 10 or below on the last 2 consecutive HAM-D24 ratings. The randomized controlled trial was performed from 1997 to 2004. Results The typical (N = 453) and atypical (N = 36) groups differed in several sociodemographic and clinical variables including gender (p = .0071), age (p = .0005), treatment resistance (p = .0014), and age at first illness onset (p < .0001) and onset of current episode (p = .0008). Following an acute course of bilateral ECT, a considerable portion of both the typical (67.1%) and the atypical (80.6%) groups reached remission. The atypical group was 2.6 (95% CI = 1.1 to 6.2) times more likely to remit than the typical group after adjustment for age, psychosis, gender, clinical site, and depression severity based on the HAM-D24. Conclusion Acute ECT is an efficacious treatment for depressed patients with typical or atypical symptom features. PMID:18278988

Heterogeneous patterns of brain atrophy in Alzheimer's disease.

PubMed

Poulakis, Konstantinos; Pereira, Joana B; Mecocci, Patrizia; Vellas, Bruno; Tsolaki, Magda; Kłoszewska, Iwona; Soininen, Hilkka; Lovestone, Simon; Simmons, Andrew; Wahlund, Lars-Olof; Westman, Eric

2018-05-01

There is increasing evidence showing that brain atrophy varies between patients with Alzheimer's disease (AD), suggesting that different anatomical patterns might exist within the same disorder. We investigated AD heterogeneity based on cortical and subcortical atrophy patterns in 299 AD subjects from 2 multicenter cohorts. Clusters of patients and important discriminative features were determined using random forest pairwise similarity, multidimensional scaling, and distance-based hierarchical clustering. We discovered 2 typical (72.2%) and 3 atypical (28.8%) subtypes with significantly different demographic, clinical, and cognitive characteristics, and different rates of cognitive decline. In contrast to previous studies, our unsupervised random forest approach based on cortical and subcortical volume measures and their linear and nonlinear interactions revealed more typical AD subtypes with important anatomically discriminative features, while the prevalence of atypical cases was lower. The hippocampal-sparing and typical AD subtypes exhibited worse clinical progression in visuospatial, memory, and executive cognitive functions. Our findings suggest there is substantial heterogeneity in AD that has an impact on how patients function and progress over time. Copyright © 2018 Elsevier Inc. All rights reserved.

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.

Imaging in the assessment and management of athletic pubalgia.

PubMed

Robinson, Philip; Bhat, Vineet; English, Bryan

2011-02-01

This article reviews the clinical, anatomical, and biomechanical basis of pubalgia and relates it to the potential imaging findings and subsequent management. Although the magnetic resonance imaging features typically seen in symptomatic athletes are emphasized, this condition remains a complex clinical problem, and treatment addressing the functional rehabilitation of the entire region is highlighted. © Thieme Medical Publishers.

Somatomedin C deficiency in Asian sisters.

PubMed

McGraw, M E; Price, D A; Hill, D J

1986-12-01

Two sisters of Asian origin showed typical clinical and biochemical features of primary somatomedin C (SM-C) deficiency (Laron dwarfism). Abnormalities of SM-C binding proteins were observed, one sister lacking the high molecular weight (150 Kd) protein.

Squamous cell carcinoma arising within a maxillary odontogenic keratocyst: A rare occurrence

PubMed Central

Jalali, Elnaz; Ferneini, Elie M.; Rengasamy, Kandasamy

2017-01-01

Squamous cell carcinoma (SCC) arising within the lining of an odontogenic keratocyst (OKC) is a rare occurrence. Although potentially locally destructive, OKC is a benign odontogenic process that typically presents with clinical and radiographic features characteristic of a benign intraosseous neoplasm. We present the clinical and radiographic features of a maxillary mass that demonstrated SCC arising from the lining of an OKC. Although the initial clinical and radiographic presentation suggested an infection or malignant neoplasm, biopsies revealed an infiltrative well-differentiated SCC contiguous with and arising from the focus of a pre-existing OKC. The patient subsequently underwent a type II hemi-maxillectomy with neoadjuvant chemoradiation. This report discusses the clinical and radiographic features associated with intraosseous malignancies, especially those arising from an otherwise benign odontogenic lesion. While the majority of OKCs are benign, the current report illustrates the potential for carcinomatous transformation within the lining of an OKC. PMID:28680851

Dengue fever outbreak: a clinical management experience.

PubMed

Ahmed, Shahid; Ali, Nadir; Ashraf, Shahzad; Ilyas, Mohammad; Tariq, Waheed-Uz-Zaman; Chotani, Rashid A

2008-01-01

To determine the frequency of dengue as a cause of fever and compare the clinical and haematological characteristics of Dengue-probable and Dengue-proven cases. An observational study. The Combined Military Hospital, Malir Cantt., Karachi, from August 2005 to December 2006. All patients with age above 14 years, who were either hospitalized or treated in medical outdoor clinic due to acute febrile illness, were evaluated for clinical features of Dengue Fever (DF), Dengue haemorrhagic fever (DHF) and Dengue Shock Syndrome (DSS). Patients showing typical clinical features and haematological findings suggestive of Dengue fever (As per WHO criteria) were evaluated in detail for comparison of probable and confirmed cases of Dengue fever. All other cases of acute febrile illness, not showing clinical features or haematological abnormalities of Dengue fever, were excluded. The clinical and laboratory features were recorded on SPSS 11.0 programme and graded where required, for descriptive and statistical analysis. Out of 5200 patients with febrile illness, 107(2%) presented with typical features of DF, 40/107(37%) were Dengue-proven while 67/107(63%) were Dengue-probable. Out of Dengue-proven cases, 38 were of DF and 2 were of DHF. Day 1 temperature ranged from 99-1050C (mean 1010C). Chills and rigors were noticed in 86 (80%), myalgia in 67%, headache in 54%, pharyngitis in 35%, rash in 28%, and bleeding manifestations in 2% cases. Hepatomegaly in 1(0.5%), lymphadenopathy in 1(0.5%) and splenomegaly in 12 (11.2%) cases. Leucopoenia (count<4x109 /L) was noted in 73%, platelet count<150 x109 /L in 84% and ALT>40 U/L in 57% cases. Frequency of clinically suspected dengue virus infection was 107 (2%), while confirmed dengue fever cases were 40 (0.8%) out of 5200 fever cases. Fever with chills and rigors, body aches, headache, myalgia, rash, haemorrhagic manifestations, platelet count, total leukocyte count, and ALT, are parameters to screen the cases of suspected dengue virus infection; the diagnosis cannot be confirmed unless supported by molecular studies or dengue specific IgM .

Adiposis dolorosa (Dercum's disease): MRI and ultrasound appearances.

PubMed

Tins, B J; Matthews, C; Haddaway, M; Cassar-Pullicino, V N; Lalam, R; Singh, J; Tyrrell, P N M

2013-10-01

To describe ultrasound and magnetic resonance imaging (MRI) features of adiposis dolorosa, Dercum's disease, and to evaluate the MRI features prospectively against a large number of MRI examinations. Institutional review board approval for this study was obtained. The imaging features at MRI and ultrasound of 13 cases of adiposis dolorosa (nine female, four male; age range 32-72 years) were reviewed. MRI findings typical for adiposis dolorosa were proposed and prospectively evaluated on 6247 MRI examinations performed over a period of 8 months. Adiposis dolorosa demonstrates multiple, oblong, fatty lesions in the superficial subcutaneous fatty tissue. They are mostly <2 cm in long axis diameter. They demonstrate nodular ("blush-like") increased fluid signal at unenhanced MRI and are markedly hyperechoic at ultrasound. There is no contrast medium enhancement at MRI and no increased Doppler signal at ultrasound. Most lesions were clinically asymptomatic, some were painful/tender. There was no imaging evidence of oedema or inflammation. During prospective validation of these MRI features on 6247 MRI examinations, two cases with typical imaging features were encountered; both were diagnosed as adiposis dolorosa on clinical review. All cases of adiposis dolorosa showed these imaging findings. This results in a very low likelihood that a nodular, blush-like appearance of subcutaneous fat on MRI is not due to adiposis dolorosa. Adiposis dolorosa, Dercum's disease, should be suggested in the presence of multiple (many) small, oblong, fatty lesions in the subcutaneous fatty tissue in adult patients if they are hyperechoic on ultrasound imaging or blush-like at unenhanced MRI; typically a small number of these lesions are tender/painful. Imaging does not demonstrate inflammation or oedema in relation to these lesions. These MRI features should suggest the diagnosis and are likely to be pathognomonic. The radiologist is often the first to suggest the diagnosis based on the imaging features. Copyright © 2013 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.

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

PubMed

Hush, Julia M; Marcuzzi, Anna

2012-07-01

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

Legionella pneumophila pneumonia associated with acute respiratory distress syndrome successfully treated with imipenem.

PubMed

Mofredj, A; Baraka, D

1997-01-01

Although utility of beta-lactams in the treatment of legionnaire's disease could not be demonstrated, clinical cures of human legionellosis with imipenem have been reported. We report the case of a 45-year-old man who presented clinical and radiological features of 'typical' bacterial pneumonia. He was successfully treated with imipenem. Serologic studies showed seroconversion for Legionella pneumophila.

Somatomedin C deficiency in Asian sisters.

PubMed Central

McGraw, M E; Price, D A; Hill, D J

1986-01-01

Two sisters of Asian origin showed typical clinical and biochemical features of primary somatomedin C (SM-C) deficiency (Laron dwarfism). Abnormalities of SM-C binding proteins were observed, one sister lacking the high molecular weight (150 Kd) protein. Images Figure PMID:2434036

More than one kind of inference: re-examining what's learned in feature inference and classification.

PubMed

Sweller, Naomi; Hayes, Brett K

2010-08-01

Three studies examined how task demands that impact on attention to typical or atypical category features shape the category representations formed through classification learning and inference learning. During training categories were learned via exemplar classification or by inferring missing exemplar features. In the latter condition inferences were made about missing typical features alone (typical feature inference) or about both missing typical and atypical features (mixed feature inference). Classification and mixed feature inference led to the incorporation of typical and atypical features into category representations, with both kinds of features influencing inferences about familiar (Experiments 1 and 2) and novel (Experiment 3) test items. Those in the typical inference condition focused primarily on typical features. Together with formal modelling, these results challenge previous accounts that have characterized inference learning as producing a focus on typical category features. The results show that two different kinds of inference learning are possible and that these are subserved by different kinds of category representations.

Does the choice of display system influence perception and visibility of clinically relevant features in digital pathology images?

NASA Astrophysics Data System (ADS)

Kimpe, Tom; Rostang, Johan; Avanaki, Ali; Espig, Kathryn; Xthona, Albert; Cocuranu, Ioan; Parwani, Anil V.; Pantanowitz, Liron

2014-03-01

Digital pathology systems typically consist of a slide scanner, processing software, visualization software, and finally a workstation with display for visualization of the digital slide images. This paper studies whether digital pathology images can look different when presenting them on different display systems, and whether these visual differences can result in different perceived contrast of clinically relevant features. By analyzing a set of four digital pathology images of different subspecialties on three different display systems, it was concluded that pathology images look different when visualized on different display systems. The importance of these visual differences is elucidated when they are located in areas of the digital slide that contain clinically relevant features. Based on a calculation of dE2000 differences between background and clinically relevant features, it was clear that perceived contrast of clinically relevant features is influenced by the choice of display system. Furthermore, it seems that the specific calibration target chosen for the display system has an important effect on the perceived contrast of clinically relevant features. Preliminary results suggest that calibrating to DICOM GSDF calibration performed slightly worse than sRGB, while a new experimental calibration target CSDF performed better than both DICOM GSDF and sRGB. This result is promising as it suggests that further research work could lead to better definition of an optimized calibration target for digital pathology images resulting in a positive effect on clinical performance.

A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism.

PubMed

Şimşek-Kiper, Pelin Özlem; Bayram, Yavuz; Ütine, Gülen Eda; Alanay, Yasemin; Boduroğlu, Koray

2014-01-01

Distal 11q deletion, previously known as Jacobsen syndrome, is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical clinical features include facial dysmorphism, mild-to-moderate psychomotor retardation, trigonocephaly, cardiac defects, and thrombocytopenia. There is a significant variability in the range of clinical features. We report herein a five-year-old girl with severe ophthalmological findings, facial dysmorphism, and psychomotor retardation with normal platelet function, in whom a de novo 11q23 deletion was detected, suggesting that distal 11q monosomy should be kept in mind in patients presenting with dysmorphic facial features and psychomotor retardation even in the absence of hematological findings.

Ameloblastic fibrosarcoma. Report of a case in a Nigerian.

PubMed

Adekeye, E O; Edwards, M B; Goubran, G F

1978-08-01

Ameloblastic fibrosarcoma is very rare and has not previously been reported from Nigeria. The case described here had typical clinical features, but the microscopic findings were unusual and difficult to interpret. The pathogenetic relationship between ameloblastic fibroma and fibrosarcoma is discussed.

Clinical and Imaging Findings in Childhood Posterior Reversible Encephalopathy Syndrome

PubMed Central

GUNGOR, Serdal; KILIC, Betul; TABEL, Yilmaz; SELIMOGLU, Ayse; OZGEN, Unsal; YILMAZ, Sezai

2018-01-01

Objective Posterior reversible encephalopathy syndrome (PRES) is characterized by typical radiologic findings in the posterior regions of the cerebral hemispheres and cerebellum. The symptoms include headache, nausea, vomiting, visual disturbances, focal neurologic deficits, and seizures. The aim of this study is to evaluate the clinical and radiological features of PRES in children and to emphasize the recognition of atypical features. Materials & Methods We retrospectively examined 23 children with PRES from Mar 2010-Apr 2015 in Inonu University Turgut Ozal Medical Center in Turkey. We compared the clinical features and cranial MRI findings between underlying diseases of PRES. Results The most common precipitating factors were hypertension (78.2%) and medications, namely immunosuppressive and antineoplastic agents (60.8%). Manifestations included mental changes (100%), seizures (95.6%), headache (60.8%), and visual disturbances (21.7%) of mean 3.6 (range 1-10) days' duration. Cranial magnetic resonance imaging (MRI) showed bilateral occipital lesions in all patients, associated in 82.6% with less typical distribution of lesions in frontal, temporal or parietal lobes, cerebellum, corpus callosum, basal ganglia, thalamus, and brain stem. Frontal involvement was predominant, observed in 56.5% of patients. Clinical recovery was followed by radiologic resolution in all patients. Conclusion PRES is often unsuspected by the clinician, thus radiologists may be the first to suggest this diagnosis on an MRI obtained for seizures or encephalopathy. Atypical MRI finding is seen quite often. Rapid diagnosis and treatment are required to avoid a devastating outcome. PMID:29379559

Mother-child interactions in young children with excessive physical aggression and in typically developing young children.

PubMed

Urbain-Gauthier, Nadine; Wendland, Jaqueline

2017-07-01

Among the multiple risk factors, the emergence of conduct problems in young children may be linked to harsh parenting and child's temperamental difficulties, leading to a reciprocal early discordant relationship. Little is known about the characteristics of early parent-child interactions in young children with physical aggression. The purpose of the current study was to evaluate the characteristics of mother-child interactions in dyads referred for excessive physical aggression in young children under 5 years of age compared to mother-child interactions in typically developing young children. Mother-child interactions were assessed during a free-play session in both a clinical sample ( N = 70, child mean age  = 3.5 years) and a nonclinical sample ( N = 80, child mean age  = 3.5 years) by using the Rating Scale of Interaction Style (Clark and Seifer, adapted by Molitor and Mayes). Significant differences were found between several interactive features in clinical and nonclinical dyads. In clinical dyads, mothers' behaviors were often characterized by intrusiveness and criticism toward children, and poor facilitative positioning. Children with excessive aggressive behavior often displayed poor communication, initiation of bids, and poor responsiveness toward the mother. They displayed fewer sustained bouts of play than typically developing children did. In clinical dyads, strong positive correlations were found between child responsiveness and maternal interest in engagement ( r = .41, p < .001), while the child displaying sustained bouts of play was negatively correlated with the mother's attempts to intrude on the child's activity ( r = .64, p < .05). These data show that children with excessive aggressive behavior develop disrupted mother-infant interactions from a very young age. Several negative interactive features and correlations between child behavior and maternal behavior were found in clinical samples. The effects of these features add up and probably strengthen each other, thus leading to interactive difficulties from a very young age. More attention should be paid to early parent-child interactions in case of child behavioral problems. The recognition of these interactive dysfunctions is discussed in terms of clinical implications for therapeutic interventions.

A novel small deletion in the NHS gene associated with Nance-Horan syndrome.

PubMed

Li, Huajin; Yang, Lizhu; Sun, Zixi; Yuan, Zhisheng; Wu, Shijing; Sui, Ruifang

2018-02-05

Nance-Horan syndrome is a rare X-linked recessive inherited disease with clinical features including severe bilateral congenital cataracts, characteristic facial and dental abnormalities. Data from Chinese Nance-Horan syndrome patients are limited. We assessed the clinical manifestations of a Chinese Nance-Horan syndrome pedigree and identified the genetic defect. Genetic analysis showed that 3 affected males carried a novel small deletion in NHS gene, c.263_266delCGTC (p.Ala89TrpfsTer106), and 2 female carriers were heterozygous for the same variant. All 3 affected males presented with typical Nance-Horan syndrome features. One female carrier displayed lens opacities centered on the posterior Y-suture in both eyes, as well as mild dental abnormalities. We recorded the clinical features of a Chinese Nance-Horan syndrome family and broadened the spectrum of mutations in the NHS gene.

Lymph node toxoplasmosis. Follow-up of 237 histologically diagnosed and serologically verified cases.

PubMed

Miettinen, M; Saxén, L; Saxén, E

1980-01-01

The clinical features, histology and follow-up of lymph node toxoplasmosis are presented in the light of 237 histologically and serologically verified cases. Lymph node toxoplasmosis is a disease with mild symptoms, and in most patients the enlarged lymph nodes were the only sign. Three fourths of the patients were women and the majority were under 40 years of age. The clinical picture was not specific, but suggestive features included a relatively short history, presence of the nodes in the neck and relative lymphocytosis in peripheral blood. Histological changes in the lymph nodes were characteristic. The most important features were strong hyperplasia but preserved general structure with small groups of epithelioid cells both in the paracortical area and in the germinal centers. Strands of monocytoid cells were usually found. 80% of the cases with typical histology also had high antibody titers, and in more than 85% of the cases with high antibodies, the lymph nodes presented a typical picture of toxoplasmosis. The follow-up revealed that lymph node toxoplasmosis. The follow-up revealed that lymph node toxoplasmosis is a disease without complications, nor is there any connection with malignant lymphomas.

The Characteristics of Herpes Simplex Virus Type 1 Infection in Rhesus Macaques and the Associated Pathological Features.

PubMed

Fan, Shengtao; Cai, Hongzhi; Xu, Xingli; Feng, Min; Wang, Lichun; Liao, Yun; Zhang, Ying; He, Zhanlong; Yang, Fengmei; Yu, Wenhai; Wang, Jingjing; Zhou, Jumin; Li, Qihan

2017-01-30

As one of the major pathogens for human herpetic diseases, herpes simplex virus type 1 (HSV1) causes herpes labialis, genital herpes and herpetic encephalitis. Our aim here was to investigate the infectious process of HSV1 in rhesus macaques and the pathological features induced during this infection. Clinical symptoms that manifested in the rhesus macaque during HSV1 infection included vesicular lesions and their pathological features. Viral distribution in the nervous tissues and associated pathologic changes indicated the typical systematic pathological processes associated with viral distribution of HSV1.Interestingly, vesicular lesions recurred in oral skin or in mucosa associated with virus shedding in macaques within four to five months post-infection,and viral latency-associated transcript (LAT) mRNA was found in the trigeminal ganglia (TG)on day 365 post-infection. Neutralization testing and enzyme-linked immunospot (ELISpot) detection of specific T cell responses confirmed the specific immunity induced by HSV1 infection. Thus, rhesus macaques could serve as an infectious model for HSV1 due to their typical clinical symptoms and the pathological recurrence associated with viral latency in nervous tissues.

Hemizygosity at the elastin locus and clinical features of Williams syndrome

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

Morimoto, Y; Kuwano, A.; Kuwajima, K.

1994-09-01

Williams syndrome is a recognizable syndrome characterized by distinctive facial appearance, gregarious personality, mental retardation, congenital heart defect, particularly supravalvular aortic stenosis (SVAS), and joint limitation. SVAS is an autosomal vascular disorder and the elastin gene was disrupted in patients with SVAS. Ewat et al. reported that hemizygosity at the elastin locus was detected in four familial and five sporadic cases of Williams syndrome. However, three patients did not have SVAS. We reconfirmed hemizygosity at the elastin locus in five patients with typical clinical features of Williams syndrome. Hemizygosity was detected in four cases with SVAS. However, one patient withmore » distinctive facial appearance and typical Williams syndrome personality had two alleles of the elastin gene, but he did not have the congenital heart anomaly. Williams syndrome is thought to be a contiguous gene disorder. Thus, our data suggest that the elastin gene is responsible for the vascular defect in patients with Williams syndrome, and flanking genes are responsible for characteristic facial appearance and personality.« less

Usefulness of confocal microscopy in distinguishing between basal cell carcinoma and intradermal melanocytic nevus on the face.

PubMed

Gamo, R; Floristan, U; Pampín, A; Caro, D; Pinedo, F; López-Estebaranz, J L

2015-10-01

The clinical distinction between basal cell carcinoma (BCC) and intradermal melanocytic nevus lesions on the face can be difficult, particularly in young patients or patients with multiple nevi. Dermoscopy is a useful tool for analyzing characteristic dermoscopic features of BCC, such as cartwheel structures, maple leaf-like areas, blue-gray nests and dots, and ulceration. It also reveals arborizing telangiectatic vessels and prominent curved vessels, which are typical of BCC, and comma vessels, which are typical of intradermal melanocytic nevi. It is, however, not always easy to distinguish between these 2 conditions, even when dermoscopy is used. We describe 2 facial lesions that posed a clinical and dermoscopic challenge in two 38-year-old patients; confocal microscopy showed separation between tumor nests and stroma and polarized nuclei, which are confocal microscopy features of basal cell carcinoma. Copyright © 2014 Elsevier España, S.L.U. y AEDV. All rights reserved.

SPG11 Presenting with Tremor

PubMed Central

Schneider, Susanne A.; Mummery, Catherine J.; Mehrabian, Mohadeseh; Houlden, Henry; Bain, Peter G.

2012-01-01

Background Hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurological diseases, which typically present with progressive lower extremity weakness and spasticity causing progressive walking difficulties. Complicating neurological or extraneurological features may be present. Case Report We describe a 19-year-old male who was referred because of an action tremor of the hands; he later developed walking difficulties. Callosal atrophy was present on his cerebral magnetic resonance imaging scan, prompting genetic testing for SPG11, which revealed homozygous mutations. Discussion The clinical features, differential diagnosis and management of SPG11, the most common form of autosomal recessive complicated HSP with a thin corpus callosum are discussed. PMID:23439843

Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review.

PubMed

Andrade, Luis Jesuino de Oliveira; Andrade, Rafael; França, Caroline Santos; Bittencourt, Alcina Vinhaes

2009-01-01

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. The authors present a typical case of pigmentary retinopathy due to Bardet-Biedl syndrome and made a brief commentary about the disease's cardinal manifestations.

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.

PubMed

Iype, Thomas; Alakbarzade, Vafa; Iype, Mary; Singh, Royana; Sreekantan-Nair, Ajith; Chioza, Barry A; Mohapatra, Tribhuvan M; Baple, Emma L; Patton, Michael A; Warner, Thomas T; Proukakis, Christos; Kulkarni, Abhi; Crosby, Andrew H

2015-11-10

The deletion of the chromosome 4p16.3 Wolf-Hirschhorn syndrome critical region (WHSCR-2) typically results in a characteristic facial appearance, varying intellectual disability, stereotypies and prenatal onset of growth retardation, while gains of the same chromosomal region result in a more variable degree of intellectual deficit and dysmorphism. Similarly the phenotype of individuals with terminal deletions of distal chromosome 3p (3p deletion syndrome) varies from mild to severe intellectual deficit, micro- and trigonocephaly, and a distinct facial appearance. We investigated a large Indian five-generation pedigree with ten affected family members in which chromosomal microarray and fluorescence in situ hybridization analyses disclosed a complex rearrangement involving chromosomal subregions 4p16.1 and 3p26.3 resulting in a 4p16.1 deletion and 3p26.3 microduplication in three individuals, and a 4p16.1 duplication and 3p26.3 microdeletion in seven individuals. A typical clinical presentation of WHS was observed in all three cases with 4p16.1 deletion and 3p26.3 microduplication. Individuals with a 4p16.1 duplication and 3p26.3 microdeletion demonstrated a range of clinical features including typical 3p microdeletion or 4p partial trisomy syndrome to more severe neurodevelopmental delay with distinct dysmorphic features. We present the largest pedigree with complex t(4p;3p) chromosomal rearrangements and diverse clinical outcomes including Wolf Hirschorn-, 3p deletion-, and 4p duplication syndrome amongst affected individuals.

Prostatic Artery Embolization (PAE) for Symptomatic Benign Prostatic Hyperplasia (BPH): Part 1, Pathological Background and Clinical Implications

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

Sun, Fei, E-mail: feisun@ccmijesususon.com; Crisóstomo, Verónica, E-mail: crisosto@ccmijesususon.com; Báez-Díaz, Claudia, E-mail: cbaez@ccmijesususon.com

Pathological features of benign prostatic hyperplasia (BPH) dictate various responses to prostatic artery embolization (PAE). Typically, BPH originates in the transition zone and periurethral region, where should be considered the primary target area in PAE procedures. Given that histological heterogeneity of components in hyperplasia nodules, epithelial or stromal, identifying the more responsive nodules to PAE will have clinical implications. Since some lower urinary tract symptoms (LUTS) in patients with BPH are usually related to bladder outlet obstruction-induced changes in bladder function rather than to outflow obstruction directly, proper selection of candidate patients prior to PAE is of great clinical importance.more » BPH is a typical chronic progressive condition, suggesting PAE could aim not only to relieve LUTS but also to delay or prevent the clinical progression. Awareness of the pathological background of BPH is essential for interventional radiologists to improve clinical outcomes and develop new treatment strategies in clinical practice of PAE.« less

Prostatic Artery Embolization (PAE) for Symptomatic Benign Prostatic Hyperplasia (BPH): Part 1, Pathological Background and Clinical Implications.

PubMed

Sun, Fei; Crisóstomo, Verónica; Báez-Díaz, Claudia; Sánchez, Francisco M

2016-01-01

Pathological features of benign prostatic hyperplasia (BPH) dictate various responses to prostatic artery embolization (PAE). Typically, BPH originates in the transition zone and periurethral region, where should be considered the primary target area in PAE procedures. Given that histological heterogeneity of components in hyperplasia nodules, epithelial or stromal, identifying the more responsive nodules to PAE will have clinical implications. Since some lower urinary tract symptoms (LUTS) in patients with BPH are usually related to bladder outlet obstruction-induced changes in bladder function rather than to outflow obstruction directly, proper selection of candidate patients prior to PAE is of great clinical importance. BPH is a typical chronic progressive condition, suggesting PAE could aim not only to relieve LUTS but also to delay or prevent the clinical progression. Awareness of the pathological background of BPH is essential for interventional radiologists to improve clinical outcomes and develop new treatment strategies in clinical practice of PAE.

Anogenital giant seborrheic keratosis.

PubMed

Wollina, Uwe; Chokoeva, Anastasiya; Tchernev, Georgi; Heinig, Birgit; Schönlebe, Jacqueline

2017-08-01

Seborrheic keratosis (SK) are very common benign epidermal tumors. Giant seborrheic keratosis (GSK) is a rare variant with clinical characteristics, which leads very often to misdiagnosis. A genital site of SK is very unusual clinical manifestation and although the cause is still unknown, current literature data point to a possible pathogenetic role of chronic friction and HPV infection. The rare genital localization makes Buschke-Löwenstein tumor and verrucous carcinoma important differential diagnoses. GSK may also show some clinical features of a melanoacanthoma, which makes cutaneous melanoma as another possible differential diagnosis. The clinical diagnosis of genital GSK is often a very difficult one, because the typical clinical features of GSK disappear and the most common dermoscopic features of GSK are usually not seen in the genital region lesions. The diagnosis of GSK of the anogenital area should be made only and always after the exact histological verification and variety of differential diagnosis should be carefully considered. The treatment of GSK is primary surgically. We present a rare case of GSK with concomitant HPV infection in the anogenital region of 72-year-old patient. Surgical approach was performed with excellent outcome.

Classification and management of hereditary retinal angiomas.

PubMed

Augsburger, J J; Shields, J A; Goldberg, R E

1981-08-01

Two distinct types of retinal angiomas are currently recognized. Capillary hemangiomas occur most characteristically as part of the von Hippel-Lindau syndrome. The retinal capillary hemangiomas typically appear as globular red-orange tumors with dilated and tortuous afferent arterioles and efferent venules. Cavernous hemangiomas typically appear as grape-like clusters of dilated vascular sacs without pronounced alteration in the adjacent arterioles and venules. The spectrum of clinical features of these two types of hemangiomatosis and current approaches to management of patients with these disorders is reviewed.

Intramuscular Lipoma: A Review of the Literature

PubMed Central

McTighe, Shane; Chernev, Ivan

2014-01-01

Lipomas are the most common type of soft tissue mesenchymal tumors. They are typically located subcutaneously and consist of mature fatty tissue. When they occur under the enclosing fascia, they are called deep-seated lipomas. Infrequently, lipomas can arise inside the muscle and are called intramuscular lipomas. Intramuscular lipomas have been commonly investigated and categorized in the same group as other deep-seated and superficial lipomatous lesions. Their clinical, histological and imaging characteristics may resemble well-differentiated liposarcomas, further adding to the difficulties in the differential diagnosis. This article summarizes the available literature and describes the typical epidemiological, pathological and clinical features of intramuscular lipomas, as well as delineating their treatment and prognosis. PMID:25568733

Rare Variant of GM2 Gangliosidosis through Activator-Protein Deficiency.

PubMed

Brackmann, Florian; Kehrer, Christiane; Kustermann, Wibke; Böhringer, Judith; Krägeloh-Mann, Ingeborg; Trollmann, Regina

2017-04-01

GM2 gangliosidosis, AB variant, is a very rare form of GM2 gangliosidosis due to a deficiency of GM2 activator protein. We report on two patients with typical clinical features suggestive of GM2 gangliosidosis, but normal results for hexosaminidase A and hexosaminidase B as well as their corresponding genes. Genetic analysis of the gene encoding the activator protein, the GM2A gene, elucidated the cause of the disease, adding a novel mutation to the spectrum of GM2 AB variant. This report points out that in typical clinical constellations with normal enzyme results, genetic diagnostic for activator protein defects should be performed. Georg Thieme Verlag KG Stuttgart · New York.

Atypical development of configural face recognition in children with autism, Down syndrome and Williams syndrome.

PubMed

Dimitriou, D; Leonard, H C; Karmiloff-Smith, A; Johnson, M H; Thomas, M S C

2015-05-01

Configural processing in face recognition is a sensitivity to the spacing between facial features. It has been argued both that its presence represents a high level of expertise in face recognition, and also that it is a developmentally vulnerable process. We report a cross-syndrome investigation of the development of configural face recognition in school-aged children with autism, Down syndrome and Williams syndrome compared with a typically developing comparison group. Cross-sectional trajectory analyses were used to compare configural and featural face recognition utilising the 'Jane faces' task. Trajectories were constructed linking featural and configural performance either to chronological age or to different measures of mental age (receptive vocabulary, visuospatial construction), as well as the Benton face recognition task. An emergent inversion effect across age for detecting configural but not featural changes in faces was established as the marker of typical development. Children from clinical groups displayed atypical profiles that differed across all groups. We discuss the implications for the nature of face processing within the respective developmental disorders, and how the cross-sectional syndrome comparison informs the constraints that shape the typical development of face recognition. © 2014 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Dengue fever

PubMed Central

Badreddine, Samar; Al-Dhaheri, Fahmi; Al-Dabbagh, Ammar; Al-Amoudi, Abdulrahman; Al-Ammari, Maged; Elatassi, Nader; Abbas, Haytham; Magliah, Rami; Malibari, Abdulbasit; Almoallim, Hani

2017-01-01

Objectives: To delineate the clinical features and outcomes of dengue infection and to guide clinician of early diagnosis and identification of risks factors for dengue hemorrhagic fever. Methods: This study is a retrospective cross-sectional. Clinical records of 567 patients with a confirmed diagnosis of dengue infection, admitted to a single hospital in Jeddah, Saudi Arabia, between January 2010 and June 2014 were reviewed. Results: Dengue infection was most common in adult males. Sixty-eight percent of infections were in Saudi nationals. In addition to the diagnostic clinical features, leucopenia and thrombocytopenia were typical of dengue infection. Approximately 4.1% of adult patients and 7.1% of pediatric patients developed dengue hemorrhagic fever (DHF). Abdominal pain and vomiting were more common in patients developing DHF. Mean platelet count was lower in adult, but not pediatric patients developing DHF. Peak alanine aminotransferase (ALT) was higher in adult and pediatric patients developing DHF. Three patients died, 2 of them developed DHF. Ninety-eight percent of adult patients and 92% of pediatric patients made a full recovery. Conclusions: Dengue infection is common in Jeddah. Abdominal pain and vomiting, thrombocytopenia, and elevated ALT are typical of severe infection, which is more likely to be associated with significant morbidity and mortality. PMID:28917067

A typical band-shaped calcific keratopathy with keratocyte changes.

PubMed Central

Dark, A J; Proctor, J

1982-01-01

The clinical features of a patient with atypical band keratopathy are described. Histochemical and electron probe analyses indicate that the granular deposits in Bowman's layer contain calcium and phosphate. An unusual feature in this patient was the presence of severe keratocyte degeneration; its possible role in the pathogenesis of this condition is discussed. Exfoliation of the calcified Bowman's layer appears to have been the basis for severe attacks of recurrent ocular pain. Images PMID:7074004

Lyme disease: a rigorous review of diagnostic criteria and treatment.

PubMed

Borchers, Andrea T; Keen, Carl L; Huntley, Arthur C; Gershwin, M Eric

2015-02-01

Lyme disease was originally identified in Lyme, Connecticut, based upon an unusual cluster of what appeared to be patients with juvenile rheumatoid arthritis. It was subsequently identified as a new clinical entity originally called Lyme arthritis based on the observation that arthritis was a major clinical feature. However, Lyme arthritis is now called Lyme disease based upon the understanding that the clinical features include not only arthritis, but also potential cardiac, dermatologic and neurologic findings. Lyme disease typically begins with an erythematous rash called erythema migrans (EM). Approximately 4-8% of patients develop cardiac, 11% develop neurologic and 45-60% of patients manifest arthritis. The disease is transmitted following exposure to a tick bite containing a spirochete in a genetically susceptible host. There is considerable data on spirochetes, including Borrelia burgdorferi (Bb), the original bacteria identified in this disease. Lyme disease, if an organism had not been identified, would be considered as a classic autoimmune disease and indeed the effector mechanisms are similar to many human diseases manifest as loss of tolerance. The clinical diagnosis is highly likely based upon appropriate serology and clinical manifestations. However, the serologic features are often misinterpreted and may have false positives if confirmatory laboratory testing is not performed. Antibiotics are routinely and typically used to treat patients with Lyme disease, but there is no evidence that prolonged or recurrent treatment with antibiotics change the natural history of Lyme disease. Although there are animal models of Lyme disease, there is no system that faithfully recapitulates the human disease. Further research on the effector mechanisms that lead to pathology in some individuals should be further explored to develop more specific therapy. Copyright © 2014 Elsevier Ltd. All rights reserved.

Diagnostic algorithm for relapsing acquired demyelinating syndromes in children.

PubMed

Hacohen, Yael; Mankad, Kshitij; Chong, W K; Barkhof, Frederik; Vincent, Angela; Lim, Ming; Wassmer, Evangeline; Ciccarelli, Olga; Hemingway, Cheryl

2017-07-18

To establish whether children with relapsing acquired demyelinating syndromes (RDS) and myelin oligodendrocyte glycoprotein antibodies (MOG-Ab) show distinctive clinical and radiologic features and to generate a diagnostic algorithm for the main RDS for clinical use. A panel reviewed the clinical characteristics, MOG-Ab and aquaporin-4 (AQP4) Ab, intrathecal oligoclonal bands, and Epstein-Barr virus serology results of 110 children with RDS. A neuroradiologist blinded to the diagnosis scored the MRI scans. Clinical, radiologic, and serologic tests results were compared. The findings showed that 56.4% of children were diagnosed with multiple sclerosis (MS), 25.4% with neuromyelitis optica spectrum disorder (NMOSD), 12.7% with multiphasic disseminated encephalomyelitis (MDEM), and 5.5% with relapsing optic neuritis (RON). Blinded analysis defined baseline MRI as typical of MS in 93.5% of children with MS. Acute disseminated encephalomyelitis presentation was seen only in the non-MS group. Of NMOSD cases, 30.7% were AQP4-Ab positive. MOG-Ab were found in 83.3% of AQP4-Ab-negative NMOSD, 100% of MDEM, and 33.3% of RON. Children with MOG-Ab were younger, were less likely to present with area postrema syndrome, and had lower disability, longer time to relapse, and more cerebellar peduncle lesions than children with AQP4-Ab NMOSD. A diagnostic algorithm applicable to any episode of CNS demyelination leads to 4 main phenotypes: MS, AQP4-Ab NMOSD, MOG-Ab-associated disease, and antibody-negative RDS. Children with MS and AQP4-Ab NMOSD showed features typical of adult cases. Because MOG-Ab-positive children showed notable and distinctive clinical and MRI features, they were grouped into a unified phenotype (MOG-Ab-associated disease), included in a new diagnostic algorithm. © 2017 American Academy of Neurology.

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

PubMed

Meester, Josephina A N; Verstraeten, Aline; Schepers, Dorien; Alaerts, Maaike; Van Laer, Lut; Loeys, Bart L

2017-11-01

Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Three typical examples of HCTD are Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS). These syndromes show some degree of phenotypical overlap of cardiovascular, skeletal, and cutaneous features. MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1 , coding for the extracellular matrix (ECM) protein fibrillin-1. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva. LDS is caused by mutations in TGBR1/2 , SMAD2/3 , or TGFB2/3 , all coding for components of the TGFβ-signaling pathway. LDS can be distinguished from MFS by the unique presence of hypertelorism, bifid uvula or cleft palate, and widespread aortic and arterial aneurysm and tortuosity. Compared to MFS, LDS cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal disease. The latest EDS nosology distinguishes 13 subtypes. Many phenotypic features show overlap between the different subtypes, which makes the clinical diagnosis rather difficult and highlights the importance of molecular diagnostic confirmation.

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

PubMed Central

Meester, Josephina A. N.; Verstraeten, Aline; Schepers, Dorien; Alaerts, Maaike; Van Laer, Lut

2017-01-01

Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Three typical examples of HCTD are Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS). These syndromes show some degree of phenotypical overlap of cardiovascular, skeletal, and cutaneous features. MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1, coding for the extracellular matrix (ECM) protein fibrillin-1. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva. LDS is caused by mutations in TGBR1/2, SMAD2/3, or TGFB2/3, all coding for components of the TGFβ-signaling pathway. LDS can be distinguished from MFS by the unique presence of hypertelorism, bifid uvula or cleft palate, and widespread aortic and arterial aneurysm and tortuosity. Compared to MFS, LDS cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal disease. The latest EDS nosology distinguishes 13 subtypes. Many phenotypic features show overlap between the different subtypes, which makes the clinical diagnosis rather difficult and highlights the importance of molecular diagnostic confirmation. PMID:29270370

Chronic Effects of Mild Neurotrauma: Putting the Cart Before the Horse?

PubMed Central

Castellani, Rudy J.; Perry, George; Iverson, Grant L.

2015-01-01

Accumulation of phosphorylated tau (p-tau) is accepted by many as a long-term consequence of repetitive mild neurotrauma, based largely on brain findings in boxers (dementia pugilistica) and, more recently, former professional athletes, military service members, and others exposed to repetitive head trauma. The pathogenic construct is also largely accepted and suggests that repetitive head trauma (typically concussions or subconcussive forces) acts on brain parenchyma to produce a deleterious neuroinflammatory cascade, encompassing p-tau templating, trans-synaptic neurotoxicity, progressive neurodegenerative disease, and associated clinical features. Some caution before accepting these concepts and assumptions is warranted, however. The association between history of concussion and findings of p-tau at autopsy is unclear. Concussions and subconcussive head trauma exposure are poorly defined in available cases and the clinical features reported in CTE are not at present distinguishable from other disorders. Because control groups are limited, the idea that p-tau drives the disease process via protein templating or some other mechanism is preliminary. Much additional research in CTE is needed to determine if it has unique neuropathology and clinical features, the extent to which the neuropathologic alterations cause the clinical features, and whether it can be identified accurately in a living person. PMID:25933385

Recurrent Guillain-Barré syndrome presenting stereotypic manifestations, positive antiganglioside antibodies, and rapid recovery.

PubMed

Pyun, So Young; Jeong, Jin-Ho; Bae, Jong Seok

2015-12-01

Recurrent Guillain-Barré syndrome (rGBS) has been described as a rare entity with distinct characteristics. However, little is known about rGBS in Asian group. The aim of this study was to identify the incidence and clinical course of rGBS, and to determine its clinical/pathophysiological implications. The consecutive data of 117 GBS patients were retrieved from a single university-based hospital in Korea and analyzed in terms of clinical, serological, electrophysiological aspects. A thorough review revealed that three (2.6%) of the enrolled patients had experienced more than two definite recurrent attacks of GBS. Interestingly, all three cases exhibited clinically stereotypical features, serum antiganglioside antibodies, and rapid recovery after intravenous immunoglobulin treatment. Clinical, serological, and electrophysiological features of rGBS cases were described in detail. The stereotypic presentation of each attack in this variant suggests the importance of both host and genetic factors for the clinical manifestations. In addition, the simultaneous presence of serum antiganglioside antibodies and rapid recovery implicate reversible nerve conduction failure as the mechanism of rGBS. These features are different from typical monophasic GBS and acute onset of chronic inflammatory demyelinating polyneuropathy. Copyright © 2015 Elsevier B.V. All rights reserved.

Neurocysticercosis in Wisconsin: 3 cases and a review of the literature.

PubMed

Naddaf, Elie; Seeger, Susanne K; Stafstrom, Carl E

2014-04-01

Neurocysticercosis is the most common parasitic infection of the brain. Endemic in many regions of the world, neurocysticercosis is now showing up in nonendemic areas such as Wisconsin. We present 3 patients that illustrate features typical for neurocysticercosis in anon-endemic area, including immigrant/travel status, presentation with focal seizures, classic magnetic resonance imaging features of single enhancing lesions, and good response to treatment with anticonvulsants, anti-inflammatory agents, and cysticidal drugs. It behooves physicians involved in the care of at-risk populations to be aware of the clinical features, radiographic signs, diagnostic tests, and general principles for treating neurocysticercosis.

Extracorporeal photopheresis: Review of technical aspects.

PubMed

Arora, Satyam; Setia, Rasika

2017-01-01

Extracorporeal photochemotherapy (ECP) is considered as an immune modulating therapy majorly targeting the T cells of the Immune system. ECP induces an anti-inflammatory condition with tolerogenic responses without inducing a global immunosuppression state which is a typical feature of other therapeutic options such as steroids. Clinical indication of ECP has grown over time since its initial applications. Our review discusses the technical aspects of the concept of photopheresis with the available methods for its clinical applications.

Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations.

PubMed

Armour, C M; Allanson, J E

2008-04-01

Cardio-facio-cutaneous syndrome (CFC) is a multiple congenital anomaly/mental retardation syndrome named because of a characteristic facies, cardiac anomalies, and ectodermal abnormalities. While considerable literature describes the main features, few studies have documented the frequencies of less common features allowing a greater appreciation of the full phenotype. We have analysed clinical data on 38 individuals with CFC and a confirmed mutation in one of the genes known to cause the condition. We provide data on well-established features, and those that are less often described. Polyhydramnios (77%) and prematurity (49%) were common perinatal issues. 71% of individuals had a cardiac anomaly, the most common being pulmonary valve stenosis (42%), hypertrophic cardiomyopathy (39%), and atrial septal defect (28%). Hair anomalies were also typical: 92% had curly hair, 84% sparse hair, and 86% absent or sparse eyebrows. The most frequent cutaneous features were keratosis pilaris (73%), hyperkeratosis (61%) and nevi (76%). Significant and long lived gastrointestinal dysmotility (71%), seizures (49%), optic nerve hypoplasia (30%) and renal anomalies, chiefly hydronephrosis (20%), were among the less well known issues reported. This study reports a broad range of clinical issues in a large cohort of individuals with molecular confirmation of CFC.

Crossed asymmetry in Russell-Silver syndrome.

PubMed Central

Qazi, Q H; Kassner, E G; Ganapathy, C

1977-01-01

Since the initial report by Silver et al (1953), more than 50 examples of the Russell-Silver syndrome have been reported. Unilateral congenital asymmetry of the extremities has been considered one of the major features of this disorder (Silver, 1964). We recently observed a child with otherwise typical features of the Russell-Silver syndrome who had enlargement of the right hand and of the left lower extremity. We know of no other recorded example of crossed asymmetry in this clinical entity. Images PMID:839508

Atypical progression of multiple myeloma with extensive extramedullary disease.

PubMed Central

Jowitt, S N; Jacobs, A; Batman, P A; Sapherson, D A

1994-01-01

Multiple myeloma is a neoplastic disorder caused by the proliferation of a transformed B lymphoid progenitor cell that gives rise to a clone of immunoglobulin-secreting cells. Other plasma cell tumours include solitary plasmacytoma of bone (SPB) and extramedullary plasmacytomas (EMP). Despite an apparent common origin there exist pathological and clinical differences between these neoplasms and the association between them is not completely understood. A case of IgG multiple myeloma that presented with typical clinical and laboratory features, including a bone marrow infiltrated by well differentiated plasma cells, is reported. The tumour had an unusual evolution, with the development of extensive extramedullary disease while maintaining mature histological features. Images PMID:8163701

Alopecia Areata: Review of Epidemiology, Clinical Features, Pathogenesis, and New Treatment Options

PubMed Central

Darwin, Evan; Hirt, Penelope A; Fertig, Raymond; Doliner, Brett; Delcanto, Gina; Jimenez, Joaquin J

2018-01-01

Alopecia areata (AA) is a complex autoimmune condition that causes nonscarring hair loss. It typically presents with sharply demarcated round patches of hair loss and may present at any age. In this article, we review the epidemiology, clinical features, pathogenesis, and new treatment options of AA, with a focus on the immunologic mechanism underlying the treatment. While traditional treatment options such as corticosteroids are moderately effective, a better understanding of the disease pathogenesis may lead to the development of new treatments that are more directed and effective against AA. Sources were gathered from PubMed, Embase, and the Cochrane database using the keywords: alopecia, alopecia areata, hair loss, trichoscopy, treatments, pathogenesis, and epidemiology. PMID:29769777

A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits.

PubMed

Jia, Bei; Huang, Liping; Chen, Yaoyu; Liu, Siping; Chen, Cuihua; Xiong, Ke; Song, Lanlin; Zhou, Yulai; Yang, Xinping; Zhong, Mei

2017-12-01

Contiguous microdeletions of the Norrie disease pseudoglioma (NDP) region on chromosome Xp11.3 have been widely confirmed as contributing to the typical clinical features of Norrie disease (ND). However, the precise relation between genotype and phenotype could vary. The contiguous deletion of NDP and its neighbouring genes, MAOA/B and EFHC2, reportedly leads to syndromic clinical features such as microcephaly, intellectual disability, and epilepsy. Herewe report a novel contiguous microdeletion of the NDP region containing the MAOB and EFHC2 genes,which causes eye defects but no cognitive disability.We detected a deletion of 494.6 kb atXp11.3 in both the proband and carrier mother. This deletionwas then used as the molecular marker in prenatal diagnosis for two subsequent pregnancies. The deletion was absent in one of the foetuses, who remain without any abnormalities at 2 years of age. The proband shows the typical ocular clinical features of ND including bilateral retinal detachment, microphthalmia, atrophic irides, corneal opacification, and cataracts, but no symptoms of microcephaly, intellectual disability, and epilepsy. This familial study demonstrates that a deficiency in one of two MAO genes may not lead to psychomotor delay, and deletion of EFHC2 may not cause epilepsy. Our observations provide new information on the genotype-phenotype relations of MAOA/B and EFHC2 genes involved in the contiguous deletions of ND.

Dysfunctional metacognition and drive for thinness in typical and atypical anorexia nervosa.

PubMed

Davenport, Emily; Rushford, Nola; Soon, Siew; McDermott, Cressida

2015-01-01

Anorexia nervosa is complex and difficult to treat. In cognitive therapies the focus has been on cognitive content rather than process. Process-oriented therapies may modify the higher level cognitive processes of metacognition, reported as dysfunctional in adult anorexia nervosa. Their association with clinical features of anorexia nervosa, however, is unclear. With reclassification of anorexia nervosa by DSM-5 into typical and atypical groups, comparability of metacognition and drive for thinness across groups and relationships within groups is also unclear. Main objectives were to determine whether metacognitive factors differ across typical and atypical anorexia nervosa and a non-clinical community sample, and to explore a process model by determining whether drive for thinness is concurrently predicted by metacognitive factors. Women receiving treatment for anorexia nervosa (n = 119) and non-clinical community participants (n = 100), aged between 18 and 46 years, completed the Eating Disorders Inventory (3(rd) Edition) and Metacognitions Questionnaire (Brief Version). Body Mass Index (BMI) of 18.5 kg/m(2) differentiated between typical (n = 75) and atypical (n = 44) anorexia nervosa. Multivariate analyses of variance and regression analyses were conducted. Metacognitive profiles were similar in both typical and atypical anorexia nervosa and confirmed as more dysfunctional than in the non-clinical group. Drive for thinness was concurrently predicted in the typical patients by the metacognitive factors, positive beliefs about worry, and need to control thoughts; in the atypical patients by negative beliefs about worry and, inversely, by cognitive self-consciousness, and in the non-clinical group by cognitive self-consciousness. Despite having a healthier weight, the atypical group was as severely affected by dysfunctional metacognitions and drive for thinness as the typical group. Because metacognition concurrently predicted drive for thinness in both groups, a role for process-oriented therapy in adults is suggested. Implications are discussed.

Prevalence of microdeletion 22q11 in patients with hypernasal speech due to velopharyngeal insufficiency: Expanded phenotype and clinical comparison to nondeletion

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

Siegel-Bartelt, J.; Cytrynbaum, C.; Witzel, M.A.

1994-09-01

Microdeletion 22q11.2 has been reported as a frequent ethiology of both velocardiofacial (VCF) and DiGeorge syndromes. We have studied the prevalence of microdeletion 22q11 in a group of patients ascertained through a Speech and Language clinic presenting with (1) velopharyngeal insufficiency (VPI) and (2) difficultly in school. Growth parameters were measured, and facies were scored for features of VCF. Microdeletions were detected at locus D22S75 by FISH with probe N25 (Oncor), and at 22q11.2 with high resolution banding analysis (HRB). One child with typical VCF facies was considered to have a deletion at 22q11 with HRB, but is not deletedmore » with N25, indicating that N25 may not detect all deletion patients. An additional 8/30 children tested to date were deleted with the N25 probe. Heart defects were present in only 2/8 deletion patients: VSD/ASD and PS/AS. One N25 deletion patient was atypica; he has a tall, lanky habitus (height = 90%), and facies not characteristic of CVF. As expected, there is a trend to lower head size, smaller ear size, and more typical facies in deletion patients; however, four of the nondeletion patients also had a clinical diagnosis of VCF. Medially displaced carotid arteries were present in both groups, which is therefore not a diagnostic feature of microdeletion 22q11. Our findings indicate that the microdeletion 22q11 is frequent (26% in this series) in a population with VPI, even when not selected for typical facies. We believe this series supports the view that microdeletion 22q11 has a broader clinical phenotype than previously recognized.« less

Depression in Parkinson's disease: impediments to recognition and treatment options.

PubMed

Poewe, W; Luginger, E

1999-01-01

By some estimates, nearly half of patients with PD also suffer depression. Because features of PD frequently overlap with typical manifestations of major affective disorder (or mild dysthymia), both diagnosis and treatment of this comorbidity are challenging. Some of these interactive features include cognitive and speech deficits and impairments in emotional expression (e.g., PD-related facial masking) or processing. Parkinsonian depression probably is caused by an independent abnormality rather than as a maladaptive response to disease, in that the degree of depression is not correlated with PD severity. Prognostically, depressive features (e.g., introversion, inflexibility) may represent a subtle premorbid state heralding the onset of PD or an accelerated cognitive decline thereafter. Therapeutic mainstays for parkinsonian depression include psychosocial counseling at the time of PD diagnosis (and during advanced stages of PD) as well as appropriate medication regimens, the relative clinical efficacy of which remain a matter of ongoing clinical inquiry: levodopa, dopamine agonists, selegilene, tricyclic antidepressants, and selective serotonin reuptake inhibitors). This review formulates a rational treatment algorithm to assist in clinical management of parkinsonian depression, an enormously complex clinical entity.

Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature.

PubMed

Tadiotto, Elisa; Maines, Evelina; Degani, Daniela; Balter, Rita; Bordugo, Andrea; Cesaro, Simone

2018-04-01

Pearson syndrome (PS) is a rare mitochondrial disorder that usually presents with transfusion-dependent macrocytic anemia, exocrine pancreatic dysfunction, and lactic acidosis. Typical bone marrow (BM) features are vacuolization in hematopoietic progenitors, hypocellularity, and ringed sideroblasts. At the neonatal age, PS may have a variable clinical onset. Moreover, there is little information about BM features at this age and the timing of their presentation. We report a neonatal case of PS that presented with refractory anemia and atypical BM features. We reviewed the BM findings in neonatal-onset PS cases to stress the importance and limitations of BM evaluation at this age. © 2017 Wiley Periodicals, Inc.

Branchial cleft anomalies: a pictorial review of embryological development and spectrum of imaging findings.

PubMed

Adams, Ashok; Mankad, Kshitij; Offiah, Curtis; Childs, Lucy

2016-02-01

The branchial arches are the embryological precursors of the face, neck and pharynx. Anomalies of the branchial arches are the second most common congenital lesions of the head and neck in children, with second branchial arch anomalies by far the most common. Clinically, these congenital anomalies may present as cysts, sinus tracts, fistulae or cartilaginous remnants with typical clinical and radiological findings. We review the normal embryological development of the branchial arches and the anatomical structures of the head and neck that derive from each arch. The typical clinical and radiological appearances of both common and uncommon branchial arch abnormalities are discussed with an emphasis on branchial cleft anomalies. • Anomalies of the branchial arches usually present as cysts, sinuses or fistulae. • Second branchial arch anomalies account for approximately 95 % of cases. • There are no pathognomonic imaging features so diagnosis depends on a high index of suspicion and knowledge of typical locations. • Persistent cysts, fistulae or recurrent localised infection may be due to branchial arch anomalies. • Surgical excision of the cyst or tract is the most common curative option.

Characteristics of patients with symbrachydactyly.

PubMed

De Smet, L; Fabry, G

1998-04-01

The clinical and radiologic spectrum of symbrachydactyly has been extended, on the basis of experimental embryology, into four categories: typical symbrachydactyly, atypical cleft hand, monodactyly, and adactyly. The origin of this embryologic failure is probably a vascular disruption. A series of 64 hands and 3 feet are reported, indicating associated anomalies and possible etiologic features.

[Acanthoma fissuratum cutis].

PubMed

Dorn, M; Plewig, G

1981-03-01

Acanthoma fissuratum cutis is a common, however not widely recognized cutaneous lesion induced by minor, constant mechanical traumas. Lesions occur typically on the side of the nose or behind the ear, as most cases are caused by poorly-fitting spectacle-frames. Clinical features of the benign reactive tumors, which occasionally may be mistaken for basal cell epitheliomas, are presented.

Pediatric nodal marginal zone lymphoma may develop in the adult population.

PubMed

Gitelson, Elena; Al-Saleem, Tahseen; Robu, Valentin; Millenson, Michael M; Smith, Mitchell R

2010-01-01

Pediatric nodal marginal zone lymphoma (NMZL) is described as a separate variant of NMZL in the most recent WHO classification of tumors of hematologic and lymphoid tissues. It has distinctive morphology and clinical presentation and stands out as an indolent disease with remarkably better overall prognosis compared to classic NMZL. Here we report two adult patients with NMZL with clinical and morphologic features consistent with pediatric NMZL (pNMZL) and review available literature describing the clinical and histologic presentation of pNMZL. Two men, ages 44 and 18 years, each presented with localized cervical lymphadenopathy, both demonstrated florid proliferation of the marginal zone and disruption of reactive germinal centers, progressive transformation of germinal centers-like morphologic features typical for pNMZL and clonal disease with immunophenotype consistent with NMZL. This is the first report of pNMZL in a middle-aged person. Distinct histologic features and characteristic benign clinical course will help to distinguish this rare variant from other NMZL in the adults. Clinically, recognition is important to understand the true incidence of this rare form in the adult population and to avoid unnecessary overtreatment of this indolent form.

Childhood apraxia of speech: A survey of praxis and typical speech characteristics.

PubMed

Malmenholt, Ann; Lohmander, Anette; McAllister, Anita

2017-07-01

The purpose of this study was to investigate current knowledge of the diagnosis childhood apraxia of speech (CAS) in Sweden and compare speech characteristics and symptoms to those of earlier survey findings in mainly English-speakers. In a web-based questionnaire 178 Swedish speech-language pathologists (SLPs) anonymously answered questions about their perception of typical speech characteristics for CAS. They graded own assessment skills and estimated clinical occurrence. The seven top speech characteristics reported as typical for children with CAS were: inconsistent speech production (85%), sequencing difficulties (71%), oro-motor deficits (63%), vowel errors (62%), voicing errors (61%), consonant cluster deletions (54%), and prosodic disturbance (53%). Motor-programming deficits described as lack of automatization of speech movements were perceived by 82%. All listed characteristics were consistent with the American Speech-Language-Hearing Association (ASHA) consensus-based features, Strand's 10-point checklist, and the diagnostic model proposed by Ozanne. The mode for clinical occurrence was 5%. Number of suspected cases of CAS in the clinical caseload was approximately one new patient/year and SLP. The results support and add to findings from studies of CAS in English-speaking children with similar speech characteristics regarded as typical. Possibly, these findings could contribute to cross-linguistic consensus on CAS characteristics.

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

PubMed

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

2006-02-01

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

Clinical aspects of juvenile myoclonic epilepsy.

PubMed

Genton, Pierre; Thomas, Pierre; Kasteleijn-Nolst Trenité, Dorothee G A; Medina, Marco Tulio; Salas-Puig, Javier

2013-07-01

Juvenile myoclonic epilepsy (JME) is a recognizable, frequent epileptic syndrome. The most typical ictal phenomenon is bilateral myoclonia without loss of consciousness (M), with most patients also presenting with generalized tonic-clonic seizures (GTCSs) and some with absence seizures (ASs). The most striking features of JME are its onset around the time of puberty and the fact that seizure episodes occur after awakening from a sleep period or in the evening relaxation period and are facilitated by sleep deprivation and sudden arousal. Photic sensitivity is common in the EEG laboratory but uncommon or unrecognized in daily life. The clinical features of JME make it easy to diagnose. In recent years, awareness of JME has increased, and patients are often accurately diagnosed clinically before confirmation by EEG. The typical circumstance at diagnosis is a first GTCS episode, and one learns during the interview that the patient has had M in the morning for some time before the GTCS episode. There are only few differential diagnoses: the adolescent-onset progressive myoclonus epilepsies, or other forms of idiopathic generalized epilepsies of adolescence. With JME being so common, we propose that a first GTCS episode in a teenager should be considered as revealing JME until proven otherwise. Copyright © 2013. Published by Elsevier Inc.

CT and MRI Findings in Cerebral Aspergilloma.

PubMed

Gärtner, Friederike; Forstenpointner, Julia; Ertl-Wagner, Birgit; Hooshmand, Babak; Riedel, Christian; Jansen, Olav

2017-11-20

Purpose  Invasive aspergillosis usually affects immunocompromised patients. It carries a high risk of morbidity and mortality and usually has a nonspecific clinical presentation. Early diagnosis is essential in order to start effective treatment and improve clinical outcome. Materials and Methods  In a retrospective search of the PACS databases from two medical centers, we identified 9 patients with histologically proven cerebral aspergilloma. We systematically analyzed CT and MRI imaging findings to identify typical imaging appearances of cerebral aspergilloma. Results  CT did not show a typical appearance of the aspergillomas. In 100 % (9/9) there was a rim-attenuated diffusion restriction on MRI imaging. Multiple hypointense layers in the aspergillus wall, especially on the internal side, were detected in 100 % on T2-weighted imaging (9/9). Aspergillomas were T1-hypointense in 66 % of cases (6/9) and partly T1-hyperintense in 33 % (3/9). In 78 % (7/9) of cases, a rim-attenuated diffusion restriction was detected after contrast agent application. Conclusion  Nine cases were identified. Whereas CT features were less typical, we observed the following imaging features on MRI: A strong, rim-attenuated diffusion restriction (9/9); onion layer-like hypointense zones, in particular in the innermost part of the abscess wall on T2-weighted images (9/9). Enhancement of the lesion border was present in the majority of the cases (7/9). Key points   · There are typical MRI imaging features of aspergillomas.. · However, these findings could be affected by the immune status of the patient.. · Swift identification of aspergilloma imaging patterns is essential to allow for adequate therapeutic decision making.. Citation Format · Gärtner F, Forstenpointner J, Ertl-Wagner B et al. CT and MRI Findings in Cerebral Aspergilloma. Fortschr Röntgenstr 2017; DOI: 10.1055/s-0043-120766. © Georg Thieme Verlag KG Stuttgart · New York.

Features of Brazilian spotted fever in two different endemic areas in Brazil.

PubMed

Angerami, Rodrigo N; Câmara, Milena; Pacola, Márcia R; Rezende, Regina C M; Duarte, Raquel M R; Nascimento, Elvira M M; Colombo, Silvia; Santos, Fabiana C P; Leite, Ruth M; Katz, Gizelda; Silva, Luiz J

2012-12-01

Brazilian spotted fever (BSF) caused by Rickettsia rickettsii is the most important rickettsiosis and the only reportable tick-borne disease in Brazil. In Brazil, the hard tick Amblyomma cajennense is the most important BSF vector; however, in São Paulo State, A. aureolatum was also recognized as a vector species in remaining Atlantic forest areas near the metropolitan area of São Paulo city. We analyzed clinical and epidemiological features of BSF cases from two distinct areas where A. cajennense (Area 1) and A. aureolatum (Area 2) are the incriminated vectors. The clinical features demonstrate the same severity pattern of BSF in both endemic areas. Differences in seasonality, patient characteristics (median age and gender), and epidemiological risk factors (animals host contact and vegetation characteristics) were observed and possibly could be attributed to the characteristics of each vector and their typical biological cycle (hosts and environment). Copyright © 2012 Elsevier GmbH. All rights reserved.

THE MOLECULAR PATHOLOGY OF MELANOMA: AN INTEGRATED TAXONOMY OF MELANOCYTIC NEOPLASIA

PubMed Central

Bastian, Boris C.

2016-01-01

Melanomas are comprised of multiple biologically distinct categories, which differ in cell of origin, age of onset, clinical and histologic presentation, pattern of metastasis, ethnic distribution, causative role of UV radiation, predisposing germ line alterations, mutational processes, and patterns of somatic mutations. Neoplasms are initiated by gain of function mutations in one of several primary oncogenes, typically leading to benign melanocytic nevi with characteristic histologic features. The progression of nevi is restrained by multiple tumor suppressive mechanisms. Secondary genetic alterations override these barriers and promote intermediate or overtly malignant tumors along distinct progression trajectories. The current knowledge about pathogenesis, clinical, histological and genetic features of primary melanocytic neoplasms is reviewed and integrated into a taxonomic framework. PMID:24460190

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

PubMed

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

2012-09-20

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

A case of massive rhabdomyolysis following molindone administration.

PubMed

Johnson, S B; Alvarez, W A; Freinhar, J P

1986-12-01

Rhabdomyolysis is a potentially lethal syndrome that psychiatric patients seem predisposed to develop. The clinical signs and symptoms, typical laboratory features, and complications of rhabdomyolysis are presented. The case of a schizophrenic patient is reported to illustrate massive rhabdomyolysis and subsequent acute renal failure following molindone administration. Physicians who prescribe molindone should be aware of this reaction.

Social Phobia and Subtypes in the National Comorbidity Survey-Adolescent Supplement: Prevalence, Correlates, and Comorbidity

ERIC Educational Resources Information Center

Burstein, Marcy; He, Jian-Ping; Kattan, Gabriela; Albano, Anne Marie; Avenevoli, Shelli; Merikangas, Kathleen R.

2011-01-01

Objective: Social phobia typically develops during the adolescent years, yet no nationally representative studies in the United States have examined the rates and features of this condition among youth in this age range. The objectives of this investigation were to: (1) present the lifetime prevalence, sociodemographic and clinical correlates, and…

Linking Anxiety and Insistence on Sameness in Autistic Children: The Role of Sensory Hypersensitivity

ERIC Educational Resources Information Center

Black, Karen R.; Stevenson, Ryan A.; Segers, Magali; Ncube, Busiswe L.; Sun, Sol Z.; Philipp-Muller, Aviva; Bebko, James M.; Barense, Morgan D.; Ferber, Susanne

2017-01-01

Sensory hypersensitivity and insistence on sameness (I/S) are common, co-occurring features of autism, yet the relationship between them is poorly understood. This study assessed the impact of sensory hypersensitivity on the clinical symptoms of specific phobia, separation anxiety, social anxiety and I/S for autistic and typically developing (TD)…

Relationship between diameter and gross product value for small trees. In: Wood technology clinic and show.

Treesearch

R.J. Barbour

1999-01-01

Managing forests for nontimber objectives such as habitat for threatened or endangered species, water quality, recreational opportunities, aesthetic features, and other outputs need not preclude production of wood products. In fact, removal of some trees is often necessary to accomplish these nontimber objectives. The trees selected fro removal are, however, typically...

An Eye-Tracking Study of Multiple Feature Value Category Structure Learning: The Role of Unique Features

PubMed Central

Liu, Zhiya; Song, Xiaohong; Seger, Carol A.

2015-01-01

We examined whether the degree to which a feature is uniquely characteristic of a category can affect categorization above and beyond the typicality of the feature. We developed a multiple feature value category structure with different dimensions within which feature uniqueness and typicality could be manipulated independently. Using eye tracking, we found that the highest attentional weighting (operationalized as number of fixations, mean fixation time, and the first fixation of the trial) was given to a dimension that included a feature that was both unique and highly typical of the category. Dimensions that included features that were highly typical but not unique, or were unique but not highly typical, received less attention. A dimension with neither a unique nor a highly typical feature received least attention. On the basis of these results we hypothesized that subjects categorized via a rule learning procedure in which they performed an ordered evaluation of dimensions, beginning with unique and strongly typical dimensions, and in which earlier dimensions received higher weighting in the decision. This hypothesis accounted for performance on transfer stimuli better than simple implementations of two other common theories of category learning, exemplar models and prototype models, in which all dimensions were evaluated in parallel and received equal weighting. PMID:26274332

An Eye-Tracking Study of Multiple Feature Value Category Structure Learning: The Role of Unique Features.

PubMed

Liu, Zhiya; Song, Xiaohong; Seger, Carol A

2015-01-01

We examined whether the degree to which a feature is uniquely characteristic of a category can affect categorization above and beyond the typicality of the feature. We developed a multiple feature value category structure with different dimensions within which feature uniqueness and typicality could be manipulated independently. Using eye tracking, we found that the highest attentional weighting (operationalized as number of fixations, mean fixation time, and the first fixation of the trial) was given to a dimension that included a feature that was both unique and highly typical of the category. Dimensions that included features that were highly typical but not unique, or were unique but not highly typical, received less attention. A dimension with neither a unique nor a highly typical feature received least attention. On the basis of these results we hypothesized that subjects categorized via a rule learning procedure in which they performed an ordered evaluation of dimensions, beginning with unique and strongly typical dimensions, and in which earlier dimensions received higher weighting in the decision. This hypothesis accounted for performance on transfer stimuli better than simple implementations of two other common theories of category learning, exemplar models and prototype models, in which all dimensions were evaluated in parallel and received equal weighting.

Striatal necrosis in type 1 glutaric aciduria: Different stages in two siblings.

PubMed

Sen, Anitha; Pillay, Rajesh Subramonia

2011-07-01

Two siblings born of a consanguineous marriage with history of neurologic deterioration were imaged. Imaging features are classical of glutaric aciduria type 1 (GA-1), acute (striatal necrosis) stage in younger sibling, and chronic stage in older sibling. GA-1 is an autosomal recessive disease with typical imaging features. Greater awareness about this condition among clinicians and radiologists is essential for early diagnosis and prevention of its catastrophic consequences. Striatal necrosis with stroke-like signal intensity on imaging correlates with clinical stage of patients.

Striatal necrosis in type 1 glutaric aciduria: Different stages in two siblings

PubMed Central

Sen, Anitha; Pillay, Rajesh Subramonia

2011-01-01

Two siblings born of a consanguineous marriage with history of neurologic deterioration were imaged. Imaging features are classical of glutaric aciduria type 1 (GA-1), acute (striatal necrosis) stage in younger sibling, and chronic stage in older sibling. GA-1 is an autosomal recessive disease with typical imaging features. Greater awareness about this condition among clinicians and radiologists is essential for early diagnosis and prevention of its catastrophic consequences. Striatal necrosis with stroke-like signal intensity on imaging correlates with clinical stage of patients. PMID:22408669

[IgG4-related disease].

PubMed

González-Moreno, Juan; Losada López, Inés; Ortego Centeno, Norberto

2015-12-21

IgG4-related disease is a recently described clinicopathological entity showing a wide spectrum of clinical manifestations that share a common pathology. Its most characteristic feature is the formation of inflammatory tumors in different organs, which makes differentiation mainly with neoplastic diseases fundamental. The inflammatory process is typically comprised of IgG4 lymphoplasmacytic cells. The pathophysiological role of the immunoglobulin is not clear. The treatment of choice is corticosteroids. This article aims to summarize the main features of the disease. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

Plantar keloids: diagnostic and therapeutic issues in six patients.

PubMed

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

2015-07-01

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

The role of semantic complexity in treatment of naming deficits: training semantic categories in fluent aphasia by controlling exemplar typicality.

PubMed

Kiran, Swathi; Thompson, Cynthia K

2003-06-01

The effect of typicality of category exemplars on naming was investigated using a single subject experimental design across participants and behaviors in 4 patients with fluent aphasia. Participants received a semantic feature treatment to improve naming of either typical or atypical items within semantic categories, while generalization was tested to untrained items of the category. The order of typicality and category trained was counterbalanced across participants. Results indicated that patients trained on naming of atypical exemplars demonstrated generalization to naming of intermediate and typical items. However, patients trained on typical items demonstrated no generalized naming effect to intermediate or atypical examples. Furthermore, analysis of errors indicated an evolution of errors throughout training, from those with no apparent relationship to the target to primarily semantic and phonemic paraphasias. Performance on standardized language tests also showed changes as a function of treatment. Theoretical and clinical implications regarding the impact of considering semantic complexity on rehabilitation of naming deficits in aphasia are discussed.

The role of semantic complexity in treatment of naming deficits: training semantic categories in fluent aphasia by controlling exemplar typicality.

PubMed

Kiran, Swathi; Thompson, Cynthia K

2003-08-01

The effect of typicality of category exemplars on naming was investigated using a single subject experimental design across participants and behaviors in 4 patients with fluent aphasia. Participants received a semantic feature treatment to improve naming of either typical or atypical items within semantic categories, while generalization was tested to untrained items of the category. The order of typicality and category trained was counterbalanced across participants. Results indicated that patients trained on naming of atypical exemplars demonstrated generalization to naming of intermediate and typical items. However, patients trained on typical items demonstrated no generalized naming effect to intermediate or atypical examples. Furthermore, analysis of errors indicated an evolution of errors throughout training, from those with no apparent relationship to the target to primarily semantic and phonemic paraphasias. Performance on standardized language tests also showed changes as a function of treatment. Theoretical and clinical implications regarding the impact of considering semantic complexity on rehabilitation of naming deficits in aphasia are discussed.

Anaplasia in pilocytic astrocytoma predicts aggressive behavior.

PubMed

Rodriguez, Fausto J; Scheithauer, Bernd W; Burger, Peter C; Jenkins, Sarah; Giannini, Caterina

2010-02-01

The clinical significance of anaplastic features, a rare event in pilocytic astrocytoma (PA), is not fully established. We reviewed 34 PA with anaplastic features (Male = 21, Female = 13; median age 35 y, 5 to 75) among approximately 2200 PA cases (1.7%). Tumors were included which demonstrated brisk mitotic activity [at least 4 mitoses/10 high power fields (400 x )], in addition to hypercellularity and moderate-to-severe cytologic atypia, with or without necrosis. The tumors either had a PA precursor, coexistent (n = 14) (41%) or documented by previous biopsy (n = 10) (29%), or exhibited typical pilocytic features in an otherwise anaplastic astrocytoma (n = 10) (29%). Clinical features of neurofibromatosis type-1 were present in 24% and a history of radiation for PA precursor in 12%. Histologically, the anaplastic component was classified as pilocytic like (41%), small cell (32%), epithelioid (15%), or fibrillary (12%). Median MIB1 labeling index was 24.7% in the anaplastic component and 2.6% in the precursor, although overlapping values were present. Strong p53 staining (3+) was limited to areas with anaplasia (19%), with overlapping values for 1 and 2+ in areas without anaplasia. Median overall and progression-free survivals after diagnosis for the entire study group were 24 and 14 months, respectively. Overall and progression-free survivals were shorter in the setting of prior radiation for a PA precursor (P = 0.007, 0.028), increasing mitotic activity (P = 0.03, 0.02), and presence of necrosis (P = 0.02, 0.02), after adjusting for age and site. The biologic behavior of PAs with high-mitotic rates and those with necrosis paralleled that of St Anne-Mayo grades 2 and 3 diffuse astrocytomas, respectively. In summary, PA with anaplastic features exhibits a spectrum of morphologies and is associated with decreased survival when compared with typical PA.

Ultra-Widefield Steering-Based SD-OCT Imaging of the Retinal Periphery

PubMed Central

Choudhry, Netan; Golding, John; Manry, Matthew W.; Rao, Rajesh C.

2016-01-01

Objective To describe the spectral-domain optical coherence tomography (SD-OCT) features of peripheral retinal findings using an ultra-widefield (UWF) steering technique to image the retinal periphery. Design Observational study. Participants 68 patients (68 eyes) with 19 peripheral retinal features. Main Outcome Measures SD-OCT-based structural features. Methods Nineteen peripheral retinal features including: vortex vein, congenital hypertrophy of the retinal pigment epithelium (CHRPE), pars plana, ora serrata pearl, typical cystoid degeneration (TCD), cystic retinal tuft, meridional fold, lattice and cobblestone degeneration, retinal hole, retinal tear, rhegmatogenous retinal detachment (RRD), typical degenerative senile retinoschisis, peripheral laser coagulation scars, ora tooth, cryopexy scars (retinal tear and treated retinoblastoma scar), bone spicules, white without pressure, and peripheral drusen were identified by peripheral clinical examination. Near infrared (NIR) scanning laser ophthalmoscopy (SLO) images and SD-OCT of these entities were registered to UWF color photographs. Results SD-OCT resolved structural features of all peripheral findings. Dilated hyporeflective tubular structures within the choroid were observed in the vortex vein. Loss of retinal lamination, neural retinal attenuation, RPE loss or hypertrophy were seen in several entities including CHRPE, ora serrata pearl, TCD, cystic retinal tuft, meridional fold, lattice and cobblestone degenerations. Hyporeflective intraretinal spaces, indicating cystoid or schitic fluid, were seen in ora serrata pearl, ora tooth, TCD, cystic retinal tuft, meridional fold, retinal hole, and typical degenerative senile retinoschisis. The vitreoretinal interface, which often consisted of lamellae-like structures of the condensed cortical vitreous near or adherent to the neural retina, appeared clearly in most peripheral findings, confirming its association with many low-risk and vision-threatening pathologies such as lattice degeneration, meridional folds, retinal breaks, and RRDs. Conclusions UWF steering technique-based SD-OCT imaging of the retinal periphery is feasible with current commercially available devices, and provides detailed anatomical information of the peripheral retina, including benign and pathological entities, not previously imaged. This imaging technique may deepen our structural understanding of these entities, their potentially associated macular and systemic pathologies, and may influence decision-making in clinical practice, particularly in areas with teleretinal capabilities but poor access to retinal specialists. PMID:26992837

Postural orthostatic tachycardia syndrome: Dental treatment considerations.

PubMed

Brooks, John K; Francis, Laurie A P

2006-04-01

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

Subacute Sclerosing Panencephalitis in a Toddler: Changing Epidemiological Trends

PubMed Central

Aulakh, Roosy; Tiwari, Abhimanyu

2013-01-01

Subacute sclerosing panencephalitis (SSPE) is a devastating “slow virus” brain disease resulting from persistent measles virus infection of neurons. The age at presentation is usually 8 to 11 years with onset usually occurring 2–10 years after measles infection. We report a 2-and-half-year-old boy who presented with progressively increasing myoclonic jerks and subtle cognitive decline. He was diagnosed as a case of SSPE based on clinical features, typical electroencephalographic finding, and elevated cerebrospinal fluid/serum measles antibody titers. He had measles 4 months prior to onset of symptoms. This case along with review of recently published reports suggests progressively decreasing latency period between measles infection and onset of symptoms observed in cases with SSPE. Clinical implication would mean investigating for SSPE even in infants or toddlers with compatible clinical features and recent history of measles infection. PMID:24416610

Herpes Simplex Virus Type 1 infection: overview on relevant clinico-pathological features.

PubMed

Arduino, Paolo G; Porter, Stephen R

2008-02-01

Herpes Simplex Virus Type 1 (HSV-1) is a nuclear replicating enveloped virus, usually acquired through direct contact with infected lesions or body fluids (typically saliva). The prevalence of HSV-1 infection increases progressively from childhood, the seroprevalence being inversely related to socioeconomic background. Primary HSV-1 infections in children are either asymptomatic or following an incubation period of about 1 week gives rise to mucocutaneous vesicular eruptions. Herpetic gingivostomatitis typically affects the tongue, lips, gingival, buccal mucosa and the hard and soft palate. Most primary oro-facial HSV infection is caused by HSV-1, infection by HSV-2 is increasingly common. Recurrent infections, which occur at variable intervals, typically give rise to vesiculo-ulcerative lesions at mucocutaneous junctions particularly the lips (herpes labialis). Recurrent HSV-1 infection within the mouth is uncommon in otherwise healthy patients, although in immunocompromised patients, recurrent infection can be more extensive and/or aggressive. The diagnosis of common herpetic infection can usually be based upon the clinical history and presenting features. Confirmatory laboratory diagnosis is, however, required when patients are, or may be, immunocompromised.

Clinical Features of Post-Vaccination Guillain-Barré Syndrome (GBS) in Korea

PubMed Central

2017-01-01

Guillain-Barré syndrome (GBS) is the most common immune-mediated polyradiculoneuropathy and it is also the most commonly reported severe adverse event following immunization in adults. To evaluate the results of clinical and laboratory features of GBS after vaccination in Korea, we analyzed the claims-based data from 2002 to 2014 using materials collected for the Advisory Committee Vaccination Injury Compensation (ACVIC) meeting including, clinical features, nerve conduction studies (NCSs), cerebrospinal fluid (CSF) profiles, treatment, and outcomes. Forty-eight compensated GBS cases (median age, 15 years; interquartile range [IQR], 13–51; male:female ratio, 1:1) of 68 suspected GBS were found following immunization and all of them with influenza immunizations with either monovalent (n = 35) or trivalent (n = 13). Among them, 30 cases fulfilled the Brighton criteria level 1–3 (62.5%). The median duration between the onset of symptoms to nadir, duration of the nadir, and total admission period were 3 (IQR, 2–7 days), 2 (IQR, 1–5 days), and 14 (IQR, 6–33 days) days, respectively. The most frequently reported symptom was quadriparesis which was present in 36 cases (75%) at nadir. CSF examination revealed albuminocytologic dissociation in 25.0% and NCS was abnormal in 61.8%. After treatment, most of them showed improvement. Clinical features were similar to typical post-infectious GBS and there were both demyelinating and axonal forms suggesting heterogeneous pathogenic mechanism. In order to improve the diagnostic certainty of post-vaccination GBS, careful documentation of clinical features and timely diagnostic work-up with follow-up studies are needed. PMID:28581273

Neuromuscular choristoma: characteristic magnetic resonance imaging findings and association with post-biopsy fibromatosis.

PubMed

Niederhauser, Blake D; Spinner, Robert J; Jentoft, Mark E; Everist, Brian M; Matsumoto, Jane M; Amrami, Kimberly K

2013-04-01

To describe imaging characteristics of neuromuscular choristomas (NMC) and to differentiate them from fibrolipomatous hamartomas (FLH). Clinical and imaging characteristics of six patients with biopsy-proven NMC and six patients with FLH were reviewed by musculoskeletal, a pediatric, and two in-training radiologists with a literature review to define typical magnetic resonance imaging features by consensus. Five radiology trainees blinded to cases and naive to the diagnosis of NMC and a musculoskeletal-trained radiologist rated each lesion as having more than or less than 50% intralesional fat, as well as an overall impression using axial T1 images. Sensitivity, specificity, accuracy, and interobserver agreement kappa were determined. Typical features of NMC include smoothly tapering, fusiform enlargement of the sciatic nerve or brachial plexus elements with T1 and T2 signal characteristics closely following those of muscle. Longitudinal bands of intervening low T1 and T2 signal were often present and likely corresponded to fibrous tissue by pathology. Four of five patients with long-term follow-up (80%) developed aggressive fibromatosis after percutaneous or surgical biopsy. Nerve fascicle thickening often resulted in a "coaxial cable" appearance similar to classic FLH, however, using a cutoff of <50% intralesional fat allowed for differentiation with 100% sensitivity by all reviewers and 100% specificity when all imaging features were utilized for impressions. Agreement was excellent with all differentiating methods (kappa 0.861-1.0). NMC can be confidently differentiated from FLH and malignancies using characteristic imaging and clinical features. When a diagnosis is made, biopsy should be avoided given frequent complication by aggressive fibromatosis.

Coats-like retinitis pigmentosa: Reports of three cases

PubMed Central

Kan, Emrah; Yilmaz, Turgut; Aydemir, Orhan; Güler, Mete; Kurt, Jülide

2007-01-01

Purpose: Describing the ophthalmic findings of an exudative vasculopathy called as Coats-like retinitis pigmentosa on three patients. The etiology of the Coats-like retinitis pigmentosa is obscure. The principal theories have been discussed in this article. Methods: Three observational case series have been discussed. Complete ophthalmic examinations and color fundus photos, visual field, and fluorescein angiography have been performed. Results: We have identified 3 patients who have some typical clinical features of Coats-like retinitis pigmentosa; peripheral serous retinal detachment, telangiectasia, prominent lipid deposition, pigmentary changes in peripheral retina, and loss of vision. None of the three patients had positive family history. All of the patients have had symptoms of nyctalopia, decreased central vision, and two of them have had constriction of visual field. All of the patients have had cataracts and two of them underwent cataract surgery. Fundus examination and fluorescein angiography of patients revealed typical retinitis pigmentosa with Coats-type changes in bilateral inferiotemporal quadrants. Conclusion: A better understanding of clinical features and genetic etiology of Coats-type retinitis pigmentosa will aid diagnosis and development of new therapies. If sufficient conditions arise, genetic factors that influence the expression of CRB1 mutations in Coats-like retinitis pigmentosa should be detected. PMID:19668510

Coats-like retinitis pigmentosa: Reports of three cases.

PubMed

Kan, Emrah; Yilmaz, Turgut; Aydemir, Orhan; Güler, Mete; Kurt, Jülide

2007-06-01

Describing the ophthalmic findings of an exudative vasculopathy called as Coats-like retinitis pigmentosa on three patients. The etiology of the Coats-like retinitis pigmentosa is obscure. The principal theories have been discussed in this article. Three observational case series have been discussed. Complete ophthalmic examinations and color fundus photos, visual field, and fluorescein angiography have been performed. We have identified 3 patients who have some typical clinical features of Coats-like retinitis pigmentosa; peripheral serous retinal detachment, telangiectasia, prominent lipid deposition, pigmentary changes in peripheral retina, and loss of vision. None of the three patients had positive family history. All of the patients have had symptoms of nyctalopia, decreased central vision, and two of them have had constriction of visual field. All of the patients have had cataracts and two of them underwent cataract surgery. Fundus examination and fluorescein angiography of patients revealed typical retinitis pigmentosa with Coats-type changes in bilateral inferiotemporal quadrants. A better understanding of clinical features and genetic etiology of Coats-type retinitis pigmentosa will aid diagnosis and development of new therapies. If sufficient conditions arise, genetic factors that influence the expression of CRB1 mutations in Coats-like retinitis pigmentosa should be detected.

Clinical features and patient management of Lujo hemorrhagic fever.

PubMed

Sewlall, Nivesh H; Richards, Guy; Duse, Adriano; Swanepoel, Robert; Paweska, Janusz; Blumberg, Lucille; Dinh, Thu Ha; Bausch, Daniel

2014-01-01

In 2008 a nosocomial outbreak of five cases of viral hemorrhagic fever due to a novel arenavirus, Lujo virus, occurred in Johannesburg, South Africa. Lujo virus is only the second pathogenic arenavirus, after Lassa virus, to be recognized in Africa and the first in over 40 years. Because of the remote, resource-poor, and often politically unstable regions where Lassa fever and other viral hemorrhagic fevers typically occur, there have been few opportunities to undertake in-depth study of their clinical manifestations, transmission dynamics, pathogenesis, or response to treatment options typically available in industrialized countries. We describe the clinical features of five cases of Lujo hemorrhagic fever and summarize their clinical management, as well as providing additional epidemiologic detail regarding the 2008 outbreak. Illness typically began with the abrupt onset of fever, malaise, headache, and myalgias followed successively by sore throat, chest pain, gastrointestinal symptoms, rash, minor hemorrhage, subconjunctival injection, and neck and facial swelling over the first week of illness. No major hemorrhage was noted. Neurological signs were sometimes seen in the late stages. Shock and multi-organ system failure, often with evidence of disseminated intravascular coagulopathy, ensued in the second week, with death in four of the five cases. Distinctive treatment components of the one surviving patient included rapid commencement of the antiviral drug ribavirin and administration of HMG-CoA reductase inhibitors (statins), N-acetylcysteine, and recombinant factor VIIa. Lujo virus causes a clinical syndrome remarkably similar to Lassa fever. Considering the high case-fatality and significant logistical impediments to controlled treatment efficacy trials for viral hemorrhagic fever, it is both logical and ethical to explore the use of the various compounds used in the treatment of the surviving case reported here in future outbreaks. Clinical observations should be systematically recorded to facilitate objective evaluation of treatment efficacy. Due to the risk of secondary transmission, viral hemorrhagic fever precautions should be implemented for all cases of Lujo virus infection, with specialized precautions to protect against aerosols when performing enhanced-risk procedures such as endotracheal intubation.

Evaluation of a patient with suspected chronic demyelinating polyneuropathy.

PubMed

Jani-Acsadi, Agnes; Lewis, Richard A

2013-01-01

Demyelinating neuropathies are typically characterized by physiological slowing of conduction velocity and pathologically by segmental loss of myelin and in some instances, evidence of remyelination. Clinically, patients with demyelinating neuropathy can be seen with inherited disorders (Charcot-Marie-Tooth disease) or acquired disorders, typically immune-mediated or inflammatory. The acquired disorders can be either acute or subacute as seen in the acute inflammatory demyelinating polyneuropathy (AIDP) form of Guillain-Barré syndrome or chronic progressive or relapsing disorders such as chronic inflammatory demyelinating polyneuropathy. It is important to develop a logical approach to diagnosing these disorders. This requires an understanding of the clinical, genetic, physiological, and pathological features of these neuropathies. Clinically, important features to consider are the temporal progression, degree of symmetry, and involvement of proximal as well as distal muscles. Genetically, recognizing the different inheritance patterns and age of onset allow for a coordinated approach to determining a specific genotype. Physiologically, besides nerve conduction slowing, other physiological hallmarks of demyelination include temporal dispersion of compound motor action potentials (CMAP) on proximal stimulation, conduction block, and distal CMAP duration prolongation with certain patterns of involvement pointing to specific disorders. This chapter focuses on these various aspects of the evaluation of patients with chronic acquired demyelinating neuropathies to develop a comprehensive and thoughtful diagnostic concept. Copyright © 2013 Elsevier B.V. All rights reserved.

Metabolic myopathies: functional evaluation by different exercise testing approaches.

PubMed

Volpi, L; Ricci, G; Orsucci, D; Alessi, R; Bertolucci, F; Piazza, S; Simoncini, C; Mancuso, M; Siciliano, G

2011-08-01

Metabolic myopathies are a clinically and etiologically heterogeneous group of disorders due to defects in muscular energy metabolism. They include glycogen storage diseases, fatty acid oxidation defects, and mitochondrial disorders. The typical manifestations of a metabolic myopathy are exercise-induced myalgias, exercise intolerance, and cramps. Evaluating subjects with such symptoms is not easy because of the frequent lack of clinical features. Exercise tests are, therefore, reliable screening tools. Here, we discuss the possible role of such exercise testing techniques in the diagnostic approach of a patient with suspected metabolic myopathy.

A cognitive perspective on medical expertise: theory and implication.

PubMed

Schmidt, H G; Norman, G R; Boshuizen, H P

1990-10-01

A new theory of the development of expertise in medicine is outlined. Contrary to existing views, this theory assumes that expertise is not so much a matter of superior reasoning skills or in-depth knowledge of pathophysiological states as it is based on cognitive structures that describe the features of prototypical or even actual patients. These cognitive structures, referred to as "illness scripts," contain relatively little knowledge about pathophysiological causes of symptoms and complaints but a wealth of clinically relevant information about disease, its consequences, and the context under which illness develops. By contrast, intermediate-level students without clinical experience typically use pathophysiological, causal models of disease when solving problems. The authors review evidence supporting the theory and discuss its implications for the understanding of five phenomena extensively documented in the clinical-reasoning literature: (1) content specificity in diagnostic performance; (2) typical differences in data-gathering techniques between medical students and physicians; (3) difficulties involved in setting standards; (4) a decline in performance on certain measures of clinical reasoning with increasing expertise; and (5) a paradoxical association between errors and longer response times in visual diagnosis.

Aura in Cluster Headache: A Cross-Sectional Study.

PubMed

de Coo, Ilse F; Wilbrink, Leopoldine A; Ie, Gaby D; Haan, Joost; Ferrari, Michel D

2018-06-22

Aura symptoms have been reported in up to 23% of cluster headache patients, but it is not known whether clinical characteristics are different in participants with and without aura. Using validated web-based questionnaires we assessed the presence and characteristics of attack-related aura and other clinical features in 629 subjects available for analysis from an initial cohort of 756 cluster headache subjects. Participants who screened positive for aura were contacted by telephone for confirmation of the ICHD-III criteria for aura. Typical aura symptoms before or during cluster headache attacks were found in 44/629 participants (7.0%) mainly involving visual symptoms (61.4%). Except for lower alcohol consumption and higher prevalence of frontal pain in participants with aura, no differences in clinical characteristics were found compared with participants without aura. At least 7.0% of the participants with cluster headache in our large cohort reported typical aura symptoms, which most often involved visual symptoms. No major clinical differences were found between participants with and without aura. © 2018 The Authors. Headache: The Journal of Head and Face Pain published by Wiley Periodicals, Inc. on behalf of American Headache Society.

Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia

PubMed Central

Odent, S.; Loget, P.; Le Marec, B.; Delezoide, A.; Maroteaux, P.

1999-01-01

We report on a female fetus of 24 weeks whose clinical and radiological findings were compatible with boomerang dysplasia (BD). However, histopathology was unusual with a lateral fan shaped diaphyseal ossification. This has never been described either in typical atelosteogenesis I (AT-I) or in BD. The purpose of this report is to find out if this condition is a separate lethal bone dysplasia or another histological feature of the nosological group of AT-I and BD. 


Keywords: boomerang dysplasia; atelosteogenesis; lethal chondrodysplasia; lethal dwarfism PMID:10227404

Corticobasal degeneration with olivopontocerebellar atrophy and TDP-43 pathology: an unusual clinicopathologic variant of CBD

PubMed Central

Kouri, Naomi; Oshima, Kenichi; Takahashi, Makio; Murray, Melissa E.; Ahmed, Zeshan; Parisi, Joseph E.; Yen, Shu-Hui C.; Dickson, Dennis W.

2013-01-01

CBD is a disorder affecting cognition and movement due to a progressive neurodegeneration associated with distinctive neuropathologic features, including abnormal phosphorylated tau protein in neurons and glia in cortex, basal ganglia, diencephalon and brainstem, as well as ballooned neurons and astrocytic plaques. We identified three cases of CBD with olivopontocerebellar atrophy (CBD-OPCA) that did not have α-synuclein-positive glial cytoplasmic inclusions of multiple system atrophy (MSA). Two patients had clinical features suggestive of progressive supranuclear palsy (PSP), and the third case had cerebellar ataxia thought to be due to idiopathic OPCA. Neuropathologic features of CBD-OPCA are compared to typical CBD, as well as MSA and PSP. CBD-OPCA and MSA had marked neuronal loss in pontine nuclei, inferior olivary nucleus, and Purkinje cell layer. Neuronal loss and grumose degeneration in the cerebellar dentate nucleus was comparable in CBD-OPCA and PSP. Image analysis of tau pathology showed greater infratentorial tau burden, especially in pontine base, in CBD-OPCA compared with typical CBD. Additionally, CBD-OPCA had TDP-43 immunoreactive neuronal and glial cytoplasmic inclusions and threads throughout the basal ganglia and in olivopontocerebellar system. CBD-OPCA met neuropathologic research diagnostic criteria for CBD and shared tau biochemical characteristics with typical CBD. These results suggest that CBD-OPCA is a distinct clinicopathologic variant of CBD with olivopontocerebellar TDP-43 pathology. PMID:23371366

Corticobasal degeneration with olivopontocerebellar atrophy and TDP-43 pathology: an unusual clinicopathologic variant of CBD.

PubMed

Kouri, Naomi; Oshima, Kenichi; Takahashi, Makio; Murray, Melissa E; Ahmed, Zeshan; Parisi, Joseph E; Yen, Shu-Hui C; Dickson, Dennis W

2013-05-01

Corticobasal degeneration (CBD) is a disorder affecting cognition and movement due to a progressive neurodegeneration associated with distinctive neuropathologic features, including abnormal phosphorylated tau protein in neurons and glia in cortex, basal ganglia, diencephalon, and brainstem, as well as ballooned neurons and astrocytic plaques. We identified three cases of CBD with olivopontocerebellar atrophy (CBD-OPCA) that did not have α-synuclein-positive glial cytoplasmic inclusions of multiple system atrophy (MSA). Two patients had clinical features suggestive of progressive supranuclear palsy (PSP), and the third case had cerebellar ataxia thought to be due to idiopathic OPCA. Neuropathologic features of CBD-OPCA are compared to typical CBD, as well as MSA and PSP. CBD-OPCA and MSA had marked neuronal loss in pontine nuclei, inferior olivary nucleus, and Purkinje cell layer. Neuronal loss and grumose degeneration in the cerebellar dentate nucleus were comparable in CBD-OPCA and PSP. Image analysis of tau pathology showed greater infratentorial tau burden, especially in pontine base, in CBD-OPCA compared with typical CBD. In addition, CBD-OPCA had TDP-43 immunoreactive neuronal and glial cytoplasmic inclusions and threads throughout the basal ganglia and in olivopontocerebellar system. CBD-OPCA met neuropathologic research diagnostic criteria for CBD and shared tau biochemical characteristics with typical CBD. These results suggest that CBD-OPCA is a distinct clinicopathologic variant of CBD with olivopontocerebellar TDP-43 pathology.

Clinical features of Friedreich's ataxia: classical and atypical phenotypes.

PubMed

Parkinson, Michael H; Boesch, Sylvia; Nachbauer, Wolfgang; Mariotti, Caterina; Giunti, Paola

2013-08-01

One hundred and fifty years since Nikolaus Friedreich's first description of the degenerative ataxic syndrome which bears his name, his description remains at the core of the classical clinical phenotype of gait and limb ataxia, poor balance and coordination, leg weakness, sensory loss, areflexia, impaired walking, dysarthria, dysphagia, eye movement abnormalities, scoliosis, foot deformities, cardiomyopathy and diabetes. Onset is typically around puberty with slow progression and shortened life-span often related to cardiac complications. Inheritance is autosomal recessive with the vast majority of cases showing an unstable intronic GAA expansion in both alleles of the frataxin gene on chromosome 9q13. A small number of cases are caused by a compound heterozygous expansion with a point mutation or deletion. Understanding of the underlying molecular biology has enabled identification of atypical phenotypes with late onset, or atypical features such as retained reflexes. Late-onset cases tend to have slower progression and are associated with smaller GAA expansions. Early-onset cases tend to have more rapid progression and a higher frequency of non-neurological features such as diabetes, cardiomyopathy, scoliosis and pes cavus. Compound heterozygotes, including those with large deletions, often have atypical features. In this paper, we review the classical and atypical clinical phenotypes of Friedreich's ataxia. © 2013 International Society for Neurochemistry.

The molecular mechanisms on glomangiopericytoma invasion

PubMed Central

2013-01-01

Purpose To observed the imaging and pathological features of the glomangiopericytoma. Experimental design In this paper we report a typical case of glomangiopericytoma arising in the skull base area and summarize the clinical manifestations, imaging and pathological features of such diseases. Results Immunohistochemical staining confirmed the tumor cells were strongly positive to Vim, SMA, MSA and negative to CD31, CD34. Partial cells were positive to FVIII. The imaging can’t confirm the diagnosis but indicate the the tumor has intact envelope.The cells in the tumor envelope is positive to Vim and negative SMA and FVIII. These findings were compatible with glomangiopericytoma and the cells in the tumor envelope is not glomangiopericytoma cells. Conclusion In view of the clinical and pathological features of the glomangiopericytoma, we believe that the surgery is the best treatment so far and the tumor can be resected completely. The above results can be preliminary reason to explain the low recurrence of such diseases. PMID:24074285

[The specific microbiological and clinical features of acute otitis media].

PubMed

Gurov, A V; Levina, Yu V; Guseva, A L; Elchueva, Z G; Efimova, S P; Gordienko, M V

The objective of the present study was to elucidate the specific features of the clinical course of acute otitis media as well as the peculiarities of the vestibular function and the microbial paysage associated with this pathological condition under the present-day conditions. The study included 135 patients presenting with acute otitis media (AOM) at different stages of the disease. The discharge obtained from the tympanic cavity of all the patients was examined with the use of polymerase chain reaction in real time, audiological and vestibulogical methods. The distinctive features of acute otitis medium associated with Streptococcus pneumoniae infection were found to be the intense pain syndrome with the symptoms of intoxication, well apparent inflammatory changes in the tympanic membrane as revealed by otoscopy, the increased frequency of sensorineural impairment of hearing, and the characteristic type B tympanometric curve. Typical of AOM associated with Haemophilus influenza infection are the mild pain syndrome, weak changes in the tympanic membrane as revealed by otoscopy, conductive hearing loss, and the type C tympanometric curve.

Different electrophysiological profiles and treatment response in 'typical' and 'atypical' chronic inflammatory demyelinating polyneuropathy.

PubMed

Kuwabara, Satoshi; Isose, Sagiri; Mori, Masahiro; Mitsuma, Satsuki; Sawai, Setsu; Beppu, Minako; Sekiguchi, Yukari; Misawa, Sonoko

2015-10-01

Chronic inflammatory demyelinating polyneuropathy (CIDP) is currently classified into 'typical' CIDP and 'atypical' subtypes such as multifocal acquired demyelinating sensory and motor neuropathy (MADSAM). To assess the frequency of CIDP subtypes, and to elucidate clinical and electrophysiological features, and treatment response in each subtype. We reviewed data from 100 consecutive patients fulfilling criteria for CIDP proposed by the European Federation of Neurological Societies and the Peripheral Nerve Society. The Kaplan-Meier curve was used to estimate long-term outcome. Patients were classified as having typical CIDP (60%), MADSAM (34%), demyelinating acquired distal symmetric neuropathy (8%) or pure sensory CIDP (1%). Compared with patients with MADSAM, patients with typical CIDP showed more rapid progression and severe disability, and demyelination predominant in the distal nerve segments. MADSAM was characterised by multifocal demyelination in the nerve trunks. Abnormal median-normal sural sensory responses were more frequently found for typical CIDP (53% vs 13%). Patients with typical CIDP invariably responded to corticosteroids, immunoglobulin or plasmapheresis, whereas patients with MADSAM were more refractory to these treatments. The Kaplan-Meier analyses showed that 64% of patients with typical CIDP and 41% of patients with MADSAM had a clinical remission 5 years later (p=0.02). Among the CIDP spectrum, typical CIDP and MADSAM are the major subtypes, and their pathophysiology appears to be distinct. In typical CIDP, the distal nerve terminals and possibly the nerve roots, where the blood-nerve barrier is anatomically deficient, are preferentially affected, raising the possibility of antibody-mediated demyelination, whereas cellular immunity with breakdown of the barrier may be important in MADSAM neuropathy. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Dupuytren contracture in the pediatric population: a systematic review.

PubMed

Izadpanah, Ali; Viezel-Mathieu, Alex; Izadpanah, Arash; Luc, Mario

2015-04-01

Dupuytren contracture of the palm is a relatively common benign fibroproliferative disease of the palmar fascia typically affecting the adult population. There have however been several reported cases of Dupuytren contracture in children. We sought to review the literature for Dupuytren contracture and highlight the main clinical features and management of the disease in children. Georg Thieme Verlag KG Stuttgart · New York.

Post-pancreatitis Fat Necrosis Mimicking Carcinomatosis.

PubMed

Smith, Joshua P; Arnoletti, J Pablo; Varadarajulu, Shyam; Morgan, Desiree E

2008-01-01

Acute pancreatitis can result in retroperitoneal fat necrosis, typically occurring in the peripancreatic region, with extension into the transverse mesocolon, omentum and mesenteric root. When evaluated with contrast enhanced computed tomography (CECT), acute peripancreatic post necrotic collections typically become lower in attenuation over time, and often appear as homogeneous fluid collections. Saponification as a complication of fat necrosis in patients with acute pancreatitis is a well recognized clinical entity. While retroperitonal fat necrosis is commonly seen on CECT, saponification is not a prominent imaging feature. We present a case of acute pancreatitis complicated by extensive saponification of fat throughout the retroperitoneum and peritoneal lining, mimicking carcinomatosis.

Quantitative Imaging in Cancer Evolution and Ecology

PubMed Central

Grove, Olya; Gillies, Robert J.

2013-01-01

Cancer therapy, even when highly targeted, typically fails because of the remarkable capacity of malignant cells to evolve effective adaptations. These evolutionary dynamics are both a cause and a consequence of cancer system heterogeneity at many scales, ranging from genetic properties of individual cells to large-scale imaging features. Tumors of the same organ and cell type can have remarkably diverse appearances in different patients. Furthermore, even within a single tumor, marked variations in imaging features, such as necrosis or contrast enhancement, are common. Similar spatial variations recently have been reported in genetic profiles. Radiologic heterogeneity within tumors is usually governed by variations in blood flow, whereas genetic heterogeneity is typically ascribed to random mutations. However, evolution within tumors, as in all living systems, is subject to Darwinian principles; thus, it is governed by predictable and reproducible interactions between environmental selection forces and cell phenotype (not genotype). This link between regional variations in environmental properties and cellular adaptive strategies may permit clinical imaging to be used to assess and monitor intratumoral evolution in individual patients. This approach is enabled by new methods that extract, report, and analyze quantitative, reproducible, and mineable clinical imaging data. However, most current quantitative metrics lack spatialness, expressing quantitative radiologic features as a single value for a region of interest encompassing the whole tumor. In contrast, spatially explicit image analysis recognizes that tumors are heterogeneous but not well mixed and defines regionally distinct habitats, some of which appear to harbor tumor populations that are more aggressive and less treatable than others. By identifying regional variations in key environmental selection forces and evidence of cellular adaptation, clinical imaging can enable us to define intratumoral Darwinian dynamics before and during therapy. Advances in image analysis will place clinical imaging in an increasingly central role in the development of evolution-based patient-specific cancer therapy. © RSNA, 2013 PMID:24062559

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

PubMed Central

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

2008-01-01

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

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

PubMed

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

2008-09-01

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

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.

PubMed

El Chehadeh-Djebbar, Salima; Blair, Edward; Holder-Espinasse, Muriel; Moncla, Anne; Frances, Anne-Marie; Rio, Marlène; Debray, François-Guillaume; Rump, Patrick; Masurel-Paulet, Alice; Gigot, Nadège; Callier, Patrick; Duplomb, Laurence; Aral, Bernard; Huet, Frédéric; Thauvin-Robinet, Christel; Faivre, Laurence

2013-07-01

Cohen syndrome (CS) is a rare autosomal recessive condition caused by mutations and/or large rearrangements in the VPS13B gene. CS clinical features, including developmental delay, the typical facial gestalt, chorioretinal dystrophy (CRD) and neutropenia, are well described. CS diagnosis is generally raised after school age, when visual disturbances lead to CRD diagnosis and to VPS13B gene testing. This relatively late diagnosis precludes accurate genetic counselling. The aim of this study was to analyse the evolution of CS facial features in the early period of life, particularly before school age (6 years), to find clues for an earlier diagnosis. Photographs of 17 patients with molecularly confirmed CS were analysed, from birth to preschool age. By comparing their facial phenotype when growing, we show that there are no special facial characteristics before 1 year. However, between 2 and 6 years, CS children already share common facial features such as a short neck, a square face with micrognathia and full cheeks, a hypotonic facial appearance, epicanthic folds, long ears with an everted upper part of the auricle and/or a prominent lobe, a relatively short philtrum, a small and open mouth with downturned corners, a thick lower lip and abnormal eye shapes. These early transient facial features evolve to typical CS facial features with aging. These observations emphasize the importance of ophthalmological tests and neutrophil count in children in preschool age presenting with developmental delay, hypotonia and the facial features we described here, for an earlier CS diagnosis.

Florid cemento-osseous dysplasia: review of an uncommon fibro-osseous lesion of the jaw with important clinical implications.

PubMed

Fenerty, Sarah; Shaw, Wei; Verma, Rahul; Syed, Ali B; Kuklani, Riya; Yang, Jie; Ali, Sayed

2017-05-01

Florid cemento-osseous dysplasia (FCOD) is a rare, benign, multifocal fibro-osseous dysplastic process affecting tooth-bearing areas of the jaw, characterized by replacement of normal trabecular bone with osseous tissue and dense acellular cementum in a fibrous stroma. It is one clinicopathologic variant in a spectrum of related non-neoplastic fibro-osseous lesions known as cemento-osseous dysplasias (CODs), thought to arise from elements of the periodontal ligament. Diagnosis primarily relies upon radiographic and clinical findings; unnecessary biopsy should be avoided, as inoculation with oral pathogens may precipitate chronic infection in these hypovascular lesions. Appropriate management of uncomplicated FCOD consists of periodic radiographic follow-up. Accordingly, it is important that both radiologists and clinicians performing endodontic interventions possess familiarity with this entity in order to prevent misdiagnosis and inappropriate intervention, which may result in a protracted clinical course. Lesions are usually asymptomatic in the absence of infection, typically discovered on routine dental radiographs or imaging performed for unrelated indications. Radiographically, the condition typically manifests as widespread non-expansile intraosseous masses of varying internal lucency and sclerosis that surround the root apices of vital teeth or edentulous areas in the posterior jaw. While all CODs share similar microscopic features, FCOD is distinguished by its multifocal distribution, involving two or more quadrants of the maxilla and mandible, often in a bilateral symmetric fashion. The vast majority of cases are sporadic, though few exhibit an autosomal dominant familial inheritance pattern. In this pictorial review, we discuss the radiologic characteristics of this entity, pertinent clinical and histologic features, differential diagnoses, and management options.

Geometry and Gesture-Based Features from Saccadic Eye-Movement as a Biometric in Radiology

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

Hammond, Tracy; Tourassi, Georgia; Yoon, Hong-Jun

In this study, we present a novel application of sketch gesture recognition on eye-movement for biometric identification and estimating task expertise. The study was performed for the task of mammographic screening with simultaneous viewing of four coordinated breast views as typically done in clinical practice. Eye-tracking data and diagnostic decisions collected for 100 mammographic cases (25 normal, 25 benign, 50 malignant) and 10 readers (three board certified radiologists and seven radiology residents), formed the corpus for this study. Sketch gesture recognition techniques were employed to extract geometric and gesture-based features from saccadic eye-movements. Our results show that saccadic eye-movement, characterizedmore » using sketch-based features, result in more accurate models for predicting individual identity and level of expertise than more traditional eye-tracking features.« less

The almost-invisible perineurioma.

PubMed

Restrepo, Carlos E; Amrami, Kimberly K; Howe, Benjamin M; Dyck, P James B; Mauermann, Michelle L; Spinner, Robert J

2015-09-01

Intraneural perineurioma is a rare, benign slow-growing lesion arising from the perineurial cells that surrounds the peripheral nerve fibers. Typically it presents during childhood and young adulthood as a motor mononeuropathy. MRI plays an essential role in the diagnosis and localization of the lesion, which appears as a fusiform enlargement of the nerve fascicles that enhances intensely with gadolinium. Despite the typical clinical and radiological features, intraneural perineurioma remains largely underdiagnosed because of the lack of familiarity with this entity, but also as a result of technical limitations with conventional MRI that is typically performed as a screening test over a large field of view and without contrast sequences. The purpose of this article is to present the pitfalls and pearls learned from years of experience in the diagnosis and management of this relatively rare condition. Clinical suspicion and detailed neurological examination followed by high-quality electrophysiological studies (EPS) must lead to an adequate preimaging localization of the lesion and narrowing of the imaging area. The use of high-resolution (3-T) MRI combined with gadolinium administration will allow adequate visualization of the internal anatomy of the nerve and help in differentiating other causes of neuropathy. In cases where the lesion is not recognized but clinical suspicion is high, possible errors must be assessed, including the EPS localization, area of imaging, MRI resolution, and slice thickness.

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

PubMed

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

2011-08-01

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

[Pathological features of myositis with myositis -specific autoantibodies].

PubMed

Shimizu, Jun; Mimori, Tsuneyo

2014-01-01

Myositis is a heterogeneous group of systemic autoimmune disorders characterized by inflammation of skeletal muscle. Historically, myositis has been defined using clinical features including muscle weakness, skin disease, internal organ involvement, and an association with cancer in adults. From a clinicopathologic approach, myositis has been classified into pathologically distinct subsets, polymyositis, dermatomyositis(DM), necrotizing autoimmune myositis, amyopathic DM, and non-specific myositis. Although the characteristic pathological changes are believed to be important in pathological mechanisms of each subset of myositis, in clinical practices, the percentages of the patients with typical pathological findings are usually not high. On the other hand, with the recent discovery of new myositis-specific autoantibodies (MSAs), it has been revealed that around 60% of patients with IIMs have been shown to have a anti-myositis-specific autoantibody, including anti-synthetase, anti-Mi-2, anti-MDA5, anti-TIF1 and anti-SRP antibodies. Because of striking association between unique MSAs and distinct clinical phenotypes, these antibodies are thought to be important not only for classifications of IIMs, but also as factors involved in the mechanism underlying their pathogenesis. This review reports recent progress in understanding of pathological features of myositis with MSAs.

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

PubMed

de Vries, Tamar I; Monroe, Glen R; van Belzen, Martine J; van der Lans, Christian A; Savelberg, Sanne Mc; Newman, William G; van Haaften, Gijs; Nievelstein, Rutger A; van Haelst, Mieke M

2016-08-01

Rubinstein-Taybi syndrome (RTS, OMIM 180849) and Filippi syndrome (FLPIS, OMIM 272440) are both rare syndromes, with multiple congenital anomalies and intellectual deficit (MCA/ID). We present a patient with intellectual deficit, short stature, bilateral syndactyly of hands and feet, broad thumbs, ocular abnormalities, and dysmorphic facial features. These clinical features suggest both RTS and FLPIS. Initial DNA analysis of DNA isolated from blood did not identify variants to confirm either of these syndrome diagnoses. Whole-exome sequencing identified a homozygous variant in C9orf173, which was novel at the time of analysis. Further Sanger sequencing analysis of FLPIS cases tested negative for CKAP2L variants did not, however, reveal any further variants. Subsequent analysis using DNA isolated from buccal mucosa revealed a mosaic variant in CREBBP. This report highlights the importance of excluding mosaic variants in patients with a strong but atypical clinical presentation of a MCA/ID syndrome if no disease-causing variants can be detected in DNA isolated from blood samples. As the striking syndactyly observed in the present case is typical for FLPIS, we suggest CREBBP analysis in saliva samples for FLPIS syndrome cases in which no causal CKAP2L variant is detected.

Massive pericardial effusion associated with hypothyroidism.

PubMed

Ionescu, Simona Daniela; Tănase, Daniela Maria; Ouatu, Anca; Ambăruş, V; Dosa, Anca; Arsenescu-Georgescu, Cătălina

2014-01-01

The diagnosis of hypothyroidism is difficult because hypothyroidism in adults and especially the elderly, classic, has an insidious onset with a range of nonspecific symptoms which may delay diagnosis for months or even years. Old age seems to represent trigger factor for autoimmune diseases, including hypothyroidism. Clinical features in hypothyroidism, such as weight gain, fatigue, cold intolerance, constipation, dry skin, edema and muscle weakness, and decreased osteo-tendinous reflexes are usually subtle and can be overlooked. Thyroid dysfunction may be associated with a negative impact on the cardiovascular system. Pericardial, pleural and peritoneal effusions are common findings in hypothyroidism. This case report represents a typical primary hypothyroidism (autoimmune) and shows the clinical features of this disease. Basically we talked about a severe myxedema with the involvement of internal organs in an elderly woman and the euthyroidism restoration, under thyroid replacement therapy, was correlated with the clinical improvement and cardiovascular and neurological status, with radiographic remission and regression to extinction of pericardial effusion at repeated echocardiographic evaluations.

An update on classification, genetics, and clinical approach to mixed phenotype acute leukemia (MPAL).

PubMed

Khan, Maliha; Siddiqi, Rabbia; Naqvi, Kiran

2018-06-01

Mixed phenotype acute leukemia (MPAL) is an uncommon diagnosis, representing only about 2-5% of acute leukemia cases. The blast cells of MPAL express multilineage immunophenotypic markers and may have a shared B/T/myeloid phenotype. Due to historical ambiguity in the diagnosis of MPAL, the genetics and clinical features of this disease remain poorly characterized. Based on the 2008 and 2016 World Health Organization classifications, myeloid lineage is best determined by presence of myeloperoxidase, while B and T lymphoid lineages are demonstrated by CD19 and cytoplasmic CD3 expression. MPAL typically carries a worse prognosis than either acute myeloid leukemia (AML) or acute lymphoid leukemia (ALL). Given the rarity of MPAL, there is a lack of prospective trial data to guide therapy; treatment generally relies on ALL-like regimens followed by consolidation chemotherapy or hematopoietic stem cell transplant (HSCT). Here, we review the updated classification, biology, clinical features, and treatment approach to MPAL.

Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p.

PubMed

Stewart, Heather; Rutherford, Nicola J; Briemberg, Hannah; Krieger, Charles; Cashman, Neil; Fabros, Marife; Baker, Matt; Fok, Alice; DeJesus-Hernandez, Mariely; Eisen, Andrew; Rademakers, Rosa; Mackenzie, Ian R A

2012-03-01

Two studies recently identified a GGGGCC hexanucleotide repeat expansion in a non-coding region of the chromosome 9 open-reading frame 72 gene (C9ORF72) as the cause of chromosome 9p-linked amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). In a cohort of 231 probands with ALS, we identified the C9ORF72 mutation in 17 familial (27.4%) and six sporadic (3.6%) cases. Patients with the mutation presented with typical motor features of ALS, although subjects with the C9ORF72 mutation had more frequent bulbar onset, compared to those without this mutation. Dementia was significantly more common in ALS patients and families with the C9ORF72 mutation and was usually early-onset FTD. There was striking clinical heterogeneity among the members of individual families with the mutation. The associated neuropathology was a combination of ALS with TDP-ir inclusions and FTLD-TDP. In addition to TDP-43-immunoreactive pathology, a consistent and specific feature of cases with the C9ORF72 mutation was the presence of ubiquitin-positive, TDP-43-negative inclusions in a variety of neuroanatomical regions, such as the cerebellar cortex. These findings support the C9ORF72 mutation as an important newly recognized cause of ALS, provide a more detailed characterization of the associated clinical and pathological features and further demonstrate the clinical and molecular overlap between ALS and FTD.

A clinically viable capsule endoscopy video analysis platform for automatic bleeding detection

NASA Astrophysics Data System (ADS)

Yi, Steven; Jiao, Heng; Xie, Jean; Mui, Peter; Leighton, Jonathan A.; Pasha, Shabana; Rentz, Lauri; Abedi, Mahmood

2013-02-01

In this paper, we present a novel and clinically valuable software platform for automatic bleeding detection on gastrointestinal (GI) tract from Capsule Endoscopy (CE) videos. Typical CE videos for GI tract run about 8 hours and are manually reviewed by physicians to locate diseases such as bleedings and polyps. As a result, the process is time consuming and is prone to disease miss-finding. While researchers have made efforts to automate this process, however, no clinically acceptable software is available on the marketplace today. Working with our collaborators, we have developed a clinically viable software platform called GISentinel for fully automated GI tract bleeding detection and classification. Major functional modules of the SW include: the innovative graph based NCut segmentation algorithm, the unique feature selection and validation method (e.g. illumination invariant features, color independent features, and symmetrical texture features), and the cascade SVM classification for handling various GI tract scenes (e.g. normal tissue, food particles, bubbles, fluid, and specular reflection). Initial evaluation results on the SW have shown zero bleeding instance miss-finding rate and 4.03% false alarm rate. This work is part of our innovative 2D/3D based GI tract disease detection software platform. While the overall SW framework is designed for intelligent finding and classification of major GI tract diseases such as bleeding, ulcer, and polyp from the CE videos, this paper will focus on the automatic bleeding detection functional module.

Ultra-Widefield Steering-Based Spectral-Domain Optical Coherence Tomography Imaging of the Retinal Periphery.

PubMed

Choudhry, Netan; Golding, John; Manry, Matthew W; Rao, Rajesh C

2016-06-01

To describe the spectral-domain optical coherence tomography (SD OCT) features of peripheral retinal findings using an ultra-widefield (UWF) steering technique to image the retinal periphery. Observational study. A total of 68 patients (68 eyes) with 19 peripheral retinal features. Spectral-domain OCT-based structural features. Nineteen peripheral retinal features, including vortex vein, congenital hypertrophy of the retinal pigment epithelium, pars plana, ora serrata pearl, typical cystoid degeneration (TCD), cystic retinal tuft, meridional fold, lattice and cobblestone degeneration, retinal hole, retinal tear, rhegmatogenous retinal detachment, typical degenerative senile retinoschisis, peripheral laser coagulation scars, ora tooth, cryopexy scars (retinal tear and treated retinoblastoma scar), bone spicules, white without pressure, and peripheral drusen, were identified by peripheral clinical examination. Near-infrared scanning laser ophthalmoscopy images and SD OCT of these entities were registered to UWF color photographs. Spectral-domain OCT resolved structural features of all peripheral findings. Dilated hyporeflective tubular structures within the choroid were observed in the vortex vein. Loss of retinal lamination, neural retinal attenuation, retinal pigment epithelium loss, or hypertrophy was seen in several entities, including congenital hypertrophy of the retinal pigment epithelium, ora serrata pearl, TCD, cystic retinal tuft, meridional fold, lattice, and cobblestone degenerations. Hyporeflective intraretinal spaces, indicating cystoid or schitic fluid, were seen in ora serrata pearl, ora tooth, TCD, cystic retinal tuft, meridional fold, retinal hole, and typical degenerative senile retinoschisis. The vitreoretinal interface, which often consisted of lamellae-like structures of the condensed cortical vitreous near or adherent to the neural retina, appeared clearly in most peripheral findings, confirming its association with many low-risk and vision-threatening pathologies, such as lattice degeneration, meridional folds, retinal breaks, and rhegmatogenous retinal detachments. Ultra-widefield steering-based SD OCT imaging of the retinal periphery is feasible with current commercially available devices and provides detailed anatomic information of the peripheral retina, including benign and pathologic entities, not previously imaged. This imaging technique may deepen our structural understanding of these entities and their potentially associated macular and systemic pathologies, and may influence decision-making in clinical practice, particularly in areas with teleretinal capabilities but poor access to retinal specialists. Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Persistent and Repetitive Visual Disturbances in Migraine: A Review.

PubMed

Schankin, Christoph J; Viana, Michele; Goadsby, Peter J

2017-01-01

Visual disturbances in migraineurs, such as visual aura, are typically episodic, that is, associated with the headache attack, and overlaid by head pain and other symptoms that impact the patient. In some patients, however, visual symptoms are dominant due to frequency (migraine aura status), duration (persistent migraine aura and other persistent positive visual phenomena), or complexity (visual snow syndrome). These syndromes are more rare and challenging to classify in clinical practice resulting in a lack of systematic studies on pathophysiology and treatment. We aim at describing clinical features and pathophysiological concepts of typical migraine aura with a focus on cortical spreading depression and differentiation from non-typical migraine aura. Additionally, we discuss nomenclature and the specifics of migraine aura status, persistent migraine aura, persistent positive visual phenomena, visual snow, and other migrainous visual disturbances. The term migraine with prolonged aura might be a useful bridge between typical aura and persistent aura. Further studies would be necessary to assess whether a return of the classification category eventually helps diagnosing or treating patients more effectively. A practical approach is presented to help the treating physician to assign the correct diagnosis and to choose a medication for treatment that has been successful in case reports of these rare but disabling conditions. © 2016 American Headache Society.

Gross feature recognition of Anatomical Images based on Atlas grid (GAIA): Incorporating the local discrepancy between an atlas and a target image to capture the features of anatomic brain MRI.

PubMed

Qin, Yuan-Yuan; Hsu, Johnny T; Yoshida, Shoko; Faria, Andreia V; Oishi, Kumiko; Unschuld, Paul G; Redgrave, Graham W; Ying, Sarah H; Ross, Christopher A; van Zijl, Peter C M; Hillis, Argye E; Albert, Marilyn S; Lyketsos, Constantine G; Miller, Michael I; Mori, Susumu; Oishi, Kenichi

2013-01-01

We aimed to develop a new method to convert T1-weighted brain MRIs to feature vectors, which could be used for content-based image retrieval (CBIR). To overcome the wide range of anatomical variability in clinical cases and the inconsistency of imaging protocols, we introduced the Gross feature recognition of Anatomical Images based on Atlas grid (GAIA), in which the local intensity alteration, caused by pathological (e.g., ischemia) or physiological (development and aging) intensity changes, as well as by atlas-image misregistration, is used to capture the anatomical features of target images. As a proof-of-concept, the GAIA was applied for pattern recognition of the neuroanatomical features of multiple stages of Alzheimer's disease, Huntington's disease, spinocerebellar ataxia type 6, and four subtypes of primary progressive aphasia. For each of these diseases, feature vectors based on a training dataset were applied to a test dataset to evaluate the accuracy of pattern recognition. The feature vectors extracted from the training dataset agreed well with the known pathological hallmarks of the selected neurodegenerative diseases. Overall, discriminant scores of the test images accurately categorized these test images to the correct disease categories. Images without typical disease-related anatomical features were misclassified. The proposed method is a promising method for image feature extraction based on disease-related anatomical features, which should enable users to submit a patient image and search past clinical cases with similar anatomical phenotypes.

Multifocal recurrent periostitis. Report of two cases.

PubMed

Kozlowski, K; Anderson, R; Tink, A

1981-11-01

Two case reports of recurrent multifocal periostitis in two girls aged 15 and 6 are added to the eight cases already reported in the literature. The disease is characterized clinically by recurrent mesomelic swelling of the extremities and radiologically by periosteal thickening and sclerosis of underlying bone. Hyperglobulinaemia is the most constant biochemical finding. The bone biopsy shows no typical features. The possibility of a viral etiology is discussed.

Computational phenotype discovery using unsupervised feature learning over noisy, sparse, and irregular clinical data.

PubMed

Lasko, Thomas A; Denny, Joshua C; Levy, Mia A

2013-01-01

Inferring precise phenotypic patterns from population-scale clinical data is a core computational task in the development of precision, personalized medicine. The traditional approach uses supervised learning, in which an expert designates which patterns to look for (by specifying the learning task and the class labels), and where to look for them (by specifying the input variables). While appropriate for individual tasks, this approach scales poorly and misses the patterns that we don't think to look for. Unsupervised feature learning overcomes these limitations by identifying patterns (or features) that collectively form a compact and expressive representation of the source data, with no need for expert input or labeled examples. Its rising popularity is driven by new deep learning methods, which have produced high-profile successes on difficult standardized problems of object recognition in images. Here we introduce its use for phenotype discovery in clinical data. This use is challenging because the largest source of clinical data - Electronic Medical Records - typically contains noisy, sparse, and irregularly timed observations, rendering them poor substrates for deep learning methods. Our approach couples dirty clinical data to deep learning architecture via longitudinal probability densities inferred using Gaussian process regression. From episodic, longitudinal sequences of serum uric acid measurements in 4368 individuals we produced continuous phenotypic features that suggest multiple population subtypes, and that accurately distinguished (0.97 AUC) the uric-acid signatures of gout vs. acute leukemia despite not being optimized for the task. The unsupervised features were as accurate as gold-standard features engineered by an expert with complete knowledge of the domain, the classification task, and the class labels. Our findings demonstrate the potential for achieving computational phenotype discovery at population scale. We expect such data-driven phenotypes to expose unknown disease variants and subtypes and to provide rich targets for genetic association studies.

Computational Phenotype Discovery Using Unsupervised Feature Learning over Noisy, Sparse, and Irregular Clinical Data

PubMed Central

Lasko, Thomas A.; Denny, Joshua C.; Levy, Mia A.

2013-01-01

Inferring precise phenotypic patterns from population-scale clinical data is a core computational task in the development of precision, personalized medicine. The traditional approach uses supervised learning, in which an expert designates which patterns to look for (by specifying the learning task and the class labels), and where to look for them (by specifying the input variables). While appropriate for individual tasks, this approach scales poorly and misses the patterns that we don’t think to look for. Unsupervised feature learning overcomes these limitations by identifying patterns (or features) that collectively form a compact and expressive representation of the source data, with no need for expert input or labeled examples. Its rising popularity is driven by new deep learning methods, which have produced high-profile successes on difficult standardized problems of object recognition in images. Here we introduce its use for phenotype discovery in clinical data. This use is challenging because the largest source of clinical data – Electronic Medical Records – typically contains noisy, sparse, and irregularly timed observations, rendering them poor substrates for deep learning methods. Our approach couples dirty clinical data to deep learning architecture via longitudinal probability densities inferred using Gaussian process regression. From episodic, longitudinal sequences of serum uric acid measurements in 4368 individuals we produced continuous phenotypic features that suggest multiple population subtypes, and that accurately distinguished (0.97 AUC) the uric-acid signatures of gout vs. acute leukemia despite not being optimized for the task. The unsupervised features were as accurate as gold-standard features engineered by an expert with complete knowledge of the domain, the classification task, and the class labels. Our findings demonstrate the potential for achieving computational phenotype discovery at population scale. We expect such data-driven phenotypes to expose unknown disease variants and subtypes and to provide rich targets for genetic association studies. PMID:23826094

Fulminant type 1 diabetes mellitus: a study of nine cases.

PubMed

Su, Xiao-Fei; Fu, Li-Yuan; Wu, Jin-Dan; Xu, Xiao-Hua; Li, Hui-Qin; Sun, Rui; Ye, Lei; Lee, Kok-Onn; Ma, Jian-Hua

2012-04-01

The study aims to explore the prevalence and clinical features of fulminant type 1 diabetes mellitus (F1DM). We analyzed 11,202 patients who were diagnosed having diabetes and admitted to the Department of Endocrinology, Nanjin First Hospital, Nanjin, China, from September 2005 to April 2011. Among 198 patients classified having type 1 diabetes mellitus (T1DM), nine patients were diagnosed having F1DM. Clinical features of F1DM were analyzed and compared with typical T1DM. The prevalence of F1DM was 4.5% (nine of 198 T1DM patients) in this study. F1DM patients had significantly high levels of random blood glucose (40±9 mmol/L). However, glycated hemoglobin (7.1±1.0%) and C-reactive peptide (0.21±0.15 μg/L) at 2 h postprandial were significantly lower in F1DM patients compared with typical T1DM patients. Six of them had flu-like symptoms. Five of them showed gastrointestinal symptoms. Three patients experienced disturbance of consciousness. However, none of these symptoms was found in patients with typical T1DM. A continuous intravenous insulin infusion therapy using a portable pump was given during the acute phase to control hyperglycemia and ketoacidosis. All F1DM patients survived after treatment. In this single hospital-based study, nine Chinese patients met the criteria for diagnosis of F1DM. Although F1DM may be fatal, prompt treatment is required and useful to rescue these patients.

Subacute sclerosing panencephalitis presenting as rapidly progressive young-onset dementia.

PubMed

Chakor, Rahul Tryambak; Santosh, Nandanavana Subbareddy

2013-07-01

Onset of dementia before 65 years of age is termed as young-onset dementia (YOD). Very little literature exists regarding the clinical features and diagnoses of dementia in younger individuals. We present a case series of four patients of age 10 to 23 years with severe dementia within 18 months of clinical onset (rapidly progressive dementia). Three patients had generalised periodic complexes typical of subacute sclerosing panencephalitis (SSPE) on electroencephalogram (EEG). All patients had elevated cerebrospinal fluid (CSF) IgG measles antibodies. Our case series highlights that SSPE is an important cause of rapidly progressive YOD in developing countries like India.

A case of scrotal swelling mimicking testicular torsion preceding Henoch-Schönlein vasculitis.

PubMed

Akgun, C

2012-01-01

Henoch-Schönlein purpura, is one of the most common types of multisystemic vasculitis seen in childhood. The major clinical manifestations are cutaneous purpura, arthritis, abdominal pain, gastrointestinal bleeding, and nephritis. Isolated central nervous system vasculitis, seizures, coma and hemorrhage, Guillan--Barré syndrome, ataxia and central and peripheral neuropathy, ocular involvement, orchitis, epididymitis or testicular torsion are medical or surgical complications. In this study, we report a 7-year-old boy with scrotal swelling mimicking testicular torsion with ultrasonographic and clinical findings that the typical clinical features of Henoch-Schönlein purpura including rashes and arthritis were developed after one week of surgery (Ref. 15).

Lymphangiomatous Polyp of Tonsil: A Case Report.

PubMed

Sayar, Hamide; Sayar, Çağdaş; Adamhasan, Fulya; Uğuz, Aysun

2016-01-01

Lymphangiomatous polyps of the palatine tonsils are uncommon hamartomatous proliferations that could be clinically misdiagnosed as malignant neoplasms. These polyps consist of dilated lymphatic vessels located inside fibrous and/or adipose tissue. In this paper, a 27-year-old man who presented to the outpatient clinic with a complaint of dysphagia is presented. On physical examination, the patient had a smooth, polypoid mass extending from the posterior section of the right palatine tonsil into the oropharynx. The patient underwent right tonsillectomy. Histopathological examination of the specimen showed typical features of a lymphangiomatous polyp of the tonsil. The case is reported with the accompanying literature to avoid the possibility of misdiagnosing it as a malignant lesion clinically.

Clinical features of 10 cases of eyelid sporotrichosis in Jilin Province (Northeast China).

PubMed

Fan, Bin; Wang, Jin-Feng; Zheng, Bin; Qi, Xin-Zhu; Song, Jing-Yao; Li, Guang-Yu

2016-08-01

Sporotrichosis is a common subcutaneous mycosis caused by an infection with dimorphic fungus Sporothrix schenckii. We present a series of patients with eyelid sporotrichosis and study the clinical and histopathological presentation, microbiology, treatment options, and outcome. A retrospective case-series study of patients with a clinical diagnosis of eyelid sporotrichosis. Records were examined to obtain information regarding patient demographics, presenting symptoms and signs, histopathological examination, microbiology, management, and outcomes. Ten patients (4 men, 6 women; mean age 46.5 years, range 3-81 years) were included. Based on their clinical manifestations, eyelid sporotrichosis was classified into 3 major forms: (i) fixed cutaneous (6/10 cases), (ii) lymphocutaneous (3/10 cases), and (iii) eyelid abscess (1/10 cases). All the cases were treated with a terbinafine 12-week regimen. Nodules, papules, and abscesses regressed after treatment. No recurrence was discovered after a 12-week follow-up. Eyelid sporotrichosis has typical features of clinical manifestations. Histopathological examination and tissue culture are helpful for diagnosis. Confirmed cases normally require long-term systematic treatment with antifungal agents, but surgical removal is normally unnecessary. Copyright © 2016 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved.

IgG4-Related Disease Simulating Carcinoma Colon With Diffuse Peritoneal Carcinomatosis on 18F-FDG PET/CT.

PubMed

Vadi, Shelvin Kumar; Parihar, Ashwin Singh; Kumar, Rajender; Singh, Harmandeep; Mittal, Bhagwant Rai; Bal, Amanjit; Sinha, Saroj Kumar

2018-05-14

IgG4-related disease (IgG4-RD) continues to be a diagnostic challenge and a great mimicker of malignancies. We report here a case of young man who presented with subacute intestinal obstruction with initial imaging and clinical features suggestive of carcinoma colon. 18F-FDG PET/CT showed diffuse peritoneal carcinomatosis pattern typically seen with abdominal malignancies. However, the histopathology and the raised IgG4 levels diagnosed it to be IgG4-RD. Although 18F-FDG PET/CT has typical patterns corresponding to the multisystemic involvement of IgG4-RD, the index case did not show any such findings.

Cushing's like syndrome in typical bronchial carcinoid a case report and review of the literature.

PubMed

Pedicelli, Ilaria; Patriciello, Giuseppina; Scala, Giovanni; Sorrentino, Antonietta; Gravino, Gennaro; Patriciello, Pasquale; Zeppa, Pio; Di Crescenzo, Vincenzo; Vatrella, Alessandro

2016-01-01

Cushing's syndrome occurred in 1-5% of cases of bronchial carcinoids. In this paper we describe a case of typical bronchial carcinoid in a nonsmoker young male with clinical manifestations mimicking a Cushing's syndrome. The patient performed chest radiograph and computed tomography. Fiberoptic bronchoscopy revealed the presence of an endobronchial mass occluding the bronchus intermedius. A rigid bronchoscopy was necessary for the conclusive diagnosis and for partial resection of the intraluminal tumor. Despite of the presence of Cushingoid features, the normal blood levels of ACTH and cortisol excluded the coexistence of a Cushing's syndrome. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

Neuroleptic malignant syndrome as a presenting feature of subacute sclerosing panencephalitis.

PubMed

Garg, Divyani; Reddy, Varun; Singh, Rajesh Kumar; Dash, Deepa; Bhatia, Rohit; Tripathi, Manjari

2018-02-01

Subacute sclerosing panencephalitis (SSPE) is a slowly progressive degenerative disorder caused by measles virus. It is characterised by typical clinical and electrophysiological features in the form of slow myoclonic jerks, with progressive cognitive impairment, visual symptoms, and periodic complexes on EEG, with raised titres of anti-measles antibodies in CSF and serum. Atypical presentations of SSPE have been reported including brainstem involvement, ADEM-like presentation, acute encephalitis, and cerebellar ataxia. Presentation with predominant extrapyramidal features is uncommon. We describe a case of SSPE presenting with extensive rigidity with highly elevated CPK values, mimicking neuroleptic malignant syndrome (NMS) which was most probably due to central dopaminergic blockade induced by the disease process. To our knowledge, this is the first case of SSPE presenting with a NMS-like syndrome.

Nocardia yamanashiensis in an immunocompromised patient presenting as an indurated nodule on the dorsal hand.

PubMed

Anzalone, C Lane; Cohen, Philip R; Tarrand, Jeffrey J; Diwan, Abdul H; Prieto, Victor G

2013-01-01

Nocardia are ubiquitous, aerobic, gram-positive actinomycetes. Nocardiosis typically occurs in immunocompromised patients, although immunocompetent individuals can also be affected. The purpose of this case study is to review the clinical characteristics and treatments of a unique form of cutaneous nocardiosis. We retrospectively reviewed the medical literature using PubMed, searching the terms cutaneous, host, immunocompromised, Nocardia, primary, yamanashiensis. Patient reports and previous reviews of the subject were critically assessed and the salient features are presented. Cutaneous nocardiosis typically presents as pustular nodules and the lesions may progress to become abscesses, cellulitis, granulomas or keloid-like tumors. N. brasiliensis is the predominant species involved in primary cutaneous nocardiosis; other common Nocardia species involved in human disease are N. farcinica, N. abscessus, N. cyriacigeorgica, and N. nova. Only two individuals (including the patient presented here) with primary cutaneous infection by N. yamanashiensis have been described in the literature; a third clinical isolate was recovered from a lung biopsy. Nocardia yamanashiensis is a rare clinical form of primary cutaneous nocardiosis. 16S ribosomal gene sequencing, as well as Gram stain and modified Fite acid-fast stain, play a vital role in identifying this clinical variant.

Wells syndrome and its relationship to Churg-Strauss syndrome.

PubMed

Ratzinger, Gudrun; Zankl, Julia; Zelger, Bernhard

2013-08-01

  Wells syndrome has been described as an inflammatory disorder based on typical clinical appearance combined with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Churg-Strauss syndrome, on the other hand, is primarily a diffuse, necrotizing vasculitis but is also typically displaying eosinophils and flame figures. Despite several parallels, the present understanding of these two diseases excludes any pathogenetic relationship.   We describe the clinical course and histopathological appearance of three patients who had initially been diagnosed with Wells syndrome that developed into Churg-Strauss syndrome during the course of their disease.   The clinical presentation of all three patients led to the diagnosis of Wells syndrome by independent specialists. Histopathology showed an eosinophilic infiltrate and flame figures next to features of leukocytoclastic vasculitis. Detailed examination revealed asthma bronchiale and additional symptoms indicating Churg-Strauss syndrome. The initial diagnosis of Wells syndrome had to be revised to Churg-Strauss syndrome.   We conclude that Wells syndrome could be the starting point of a pathogenetic process that might reach its maximum in Churg-Strauss syndrome. As a clinical consequence, patients with Wells syndrome should be evaluated and followed for Churg-Strauss syndrome. © 2013 The International Society of Dermatology.

3M syndrome: a report of four cases in two families.

PubMed

Güven, Ayla; Cebeci, Ayşe Nurcan

2011-01-01

3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiographically. 3M syndrome has an autosomal recessive mode of inheritance. An early diagnosis is important for genetic counseling. In this report, we present four children (3 males, 1 female) from two families who were aged between 4(11/12) and 10(11/12) years and had clinical findings of 3M syndrome. One of these patients had received growth hormone (GH) treatment which was discontinued due to an inadequate height gain. Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes.

The Knowledge Program: an Innovative, Comprehensive Electronic Data Capture System and Warehouse

PubMed Central

Katzan, Irene; Speck, Micheal; Dopler, Chris; Urchek, John; Bielawski, Kay; Dunphy, Cheryl; Jehi, Lara; Bae, Charles; Parchman, Alandra

2011-01-01

Data contained in the electronic health record (EHR) present a tremendous opportunity to improve quality-of-care and enhance research capabilities. However, the EHR is not structured to provide data for such purposes: most clinical information is entered as free text and content varies substantially between providers. Discrete information on patients’ functional status is typically not collected. Data extraction tools are often unavailable. We have developed the Knowledge Program (KP), a comprehensive initiative to improve the collection of discrete clinical information into the EHR and the retrievability of data for use in research, quality, and patient care. A distinct feature of the KP is the systematic collection of patient-reported outcomes, which is captured discretely, allowing more refined analyses of care outcomes. The KP capitalizes on features of the Epic EHR and utilizes an external IT infrastructure distinct from Epic for enhanced functionality. Here, we describe the development and implementation of the KP. PMID:22195124

Incisional endometriosis: diagnosed by fine needle aspiration cytology.

PubMed

Veda, P; Srinivasaiah, M

2010-07-01

Incisional endometriosis (IE) is a rare entity reported in 0.03-1.08% of women following obstetric or gynecologic surgeries. Most cases reported in literature have appeared after cesarean sections and were often clinically mistaken for hernia, abscess, suture granuloma or lipoma. We hereby report a case of IE following a second trimester hysterotomy, which was diagnosed by fine needle aspiration cytology (FNAC). Our patient was 26 years old, presenting with a mass over anterior abdominal wall, associated with incapacitating pain during each menstrual cycle. FNAC showed epithelial cells, stromal cells and hemosiderin laden macrophages. Based on the typical history, clinical and cytological features, the diagnosis of IE was established. Wide surgical excision was done and the resulting rectus sheath defect was repaired. Patient was followed for 6 months during which time she was symptom free. This article also reviews the spectrum of cytological features and the rare possibility of malignant transformation that can occur in IE.

Bullous lichen planus - a review.

PubMed

Liakopoulou, Angeliki; Rallis, Efstathios

2017-03-31

Bullous lichen planus is a rare variant of lichen planus. It is characterized by vesicles or bullae, which usually develop in the context of pre-existing LP lesions. It is often misdiagnosed and should be differentiated from other subepidermal bullous diseases especially lichen planus pemphigoides. The diagnosis is based on clinical suspicion and is confirmed by histopathology and immunofluoresence. The clinical features of bullous lichen planus include typical lichen planus lesions, accompanied by the formation of bullae on the affected or perilesional skin. This is evident on histology, with alteration of the dermo-epidermal junction and intrabasal bullae as a consequence of extensive inflammation. The histologic features in conjunction with the negative immunofluoresence indicate that bullous lichen planus is a form of "hyper-reactive lichen planus" rather than a distinct entity. There is no standard treatment of bullous lichen planus. Topical and systemic corticosteroids, dapsone and acitretin have been described as effective choices.

Nonpuerperal mastitis and subareolar abscess of the breast.

PubMed

Kasales, Claudia J; Han, Bing; Smith, J Stanley; Chetlen, Alison L; Kaneda, Heather J; Shereef, Serene

2014-02-01

The purpose of this article is to show radiologists how to readily recognize nonpuerperal subareolar abscess and its complications in order to help reduce the time to definitive therapy and improve patient care. To achieve this purpose, the various theories of pathogenesis and the associated histopathologic features are reviewed; the typical clinical characteristics are detailed in contrast to those seen in lactational abscess and inflammatory breast cancer; the common imaging findings are described with emphasis on the sonographic features; correlative pathologic findings are presented to reinforce the imaging findings as they pertain to disease origins; and the various treatment options are reviewed. Nonpuerperal subareolar mastitis and abscess is a benign breast entity often associated with prolonged morbidity. Through better understanding of the underlying disease process the imaging, physical, and clinical findings of this rare process can be more readily recognized and treatment options expedited, improving patient care.

Postural tremor and chronic inflammatory demyelinating polyneuropathy.

PubMed

Cao, Yiming; Menon, Parvathi; Ching-Fen Chang, Florence; Mahant, Neil; Geevasinga, Nimeshan; Fung, Victor S C; Vucic, Steve

2017-03-01

Chronic inflammatory demyelinating polyneuropathy (CIDP) typically presents with a combination of sensory and motor impairments. Tremor is recognized as a common and debilitating feature in CIDP, although the underlying mechanisms are unclear. Clinical tremor severity and disability scores were collected prospectively in 25 CIDP patients and compared with 22 neuromuscular controls. Postural and kinetic tremor were significantly more frequent in CIDP patients (80%) than in neuromuscular controls (35%; P < 0.005). Tremor severity and tremor-related disability were also significantly greater in CIDP patients than in controls. Accelerometry data confirmed the presence of a 5.5 Hz postural tremor and a 5 Hz kinetic tremor. Tremor appears to be a common clinical feature of CIDP that results in significant disability. Sensory and motor impairment may be associated with development of tremor in CIDP. Muscle Nerve 55: 338-343, 2017. © 2016 Wiley Periodicals, Inc.

3M Syndrome: A Report of Four Cases in Two Families

PubMed Central

Cebeci, Ayşe Nurcan

2011-01-01

3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiographically. 3M syndrome has an autosomal recessive mode of inheritance. An early diagnosis is important for genetic counseling. In this report, we present four children (3 males, 1 female) from two families who were aged between 411/12 and 1011/12 years and had clinical findings of 3M syndrome. One of these patients had received growth hormone (GH) treatment which was discontinued due to an inadequate height gain. Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes. Conflict of interest:None declared. PMID:21911330

Damaged mitochondria in Fanconi anemia - an isolated event or a general phenomenon?

PubMed

Pagano, Giovanni; Shyamsunder, Pavithra; Verma, Rama S; Lyakhovich, Alex

2014-01-01

Fanconi anemia (FA) is known as an inherited bone marrow failure syndrome associated with cancer predisposition and susceptibility to a number of DNA damaging stimuli, along with a number of clinical features such as upper limb malformations, increased diabetes incidence and typical anomalies in skin pigmentation. The proteins encoded by FA-defective genes (FANC proteins) display well-established roles in DNA damage and repair pathways. Moreover, some independent studies have revealed that mitochondrial dysfunction (MDF) is also involved in FA phenotype. Unconfined to FA, we have shown that other syndromes featuring DNA damage and repair (such as ataxia-telangiectasia, AT, and Werner syndrome, WS) display MDF-related phenotypes, along with oxidative stress (OS) that, altogether, may play major roles in these diseases. Experimental and clinical studies are warranted in the prospect of future therapies to be focused on compounds scavenging reactive oxygen species (ROS) as well as protecting mitochondrial functions.

Accuracy of gestalt perception of acute chest pain in predicting coronary artery disease

PubMed Central

das Virgens, Cláudio Marcelo Bittencourt; Lemos Jr, Laudenor; Noya-Rabelo, Márcia; Carvalhal, Manuela Campelo; Cerqueira Junior, Antônio Maurício dos Santos; Lopes, Fernanda Oliveira de Andrade; de Sá, Nicole Cruz; Suerdieck, Jéssica Gonzalez; de Souza, Thiago Menezes Barbosa; Correia, Vitor Calixto de Almeida; Sodré, Gabriella Sant'Ana; da Silva, André Barcelos; Alexandre, Felipe Kalil Beirão; Ferreira, Felipe Rodrigues Marques; Correia, Luís Cláudio Lemos

2017-01-01

AIM To test accuracy and reproducibility of gestalt to predict obstructive coronary artery disease (CAD) in patients with acute chest pain. METHODS We studied individuals who were consecutively admitted to our Chest Pain Unit. At admission, investigators performed a standardized interview and recorded 14 chest pain features. Based on these features, a cardiologist who was blind to other clinical characteristics made unstructured judgment of CAD probability, both numerically and categorically. As the reference standard for testing the accuracy of gestalt, angiography was required to rule-in CAD, while either angiography or non-invasive test could be used to rule-out. In order to assess reproducibility, a second cardiologist did the same procedure. RESULTS In a sample of 330 patients, the prevalence of obstructive CAD was 48%. Gestalt’s numerical probability was associated with CAD, but the area under the curve of 0.61 (95%CI: 0.55-0.67) indicated low level of accuracy. Accordingly, categorical definition of typical chest pain had a sensitivity of 48% (95%CI: 40%-55%) and specificity of 66% (95%CI: 59%-73%), yielding a negligible positive likelihood ratio of 1.4 (95%CI: 0.65-2.0) and negative likelihood ratio of 0.79 (95%CI: 0.62-1.02). Agreement between the two cardiologists was poor in the numerical classification (95% limits of agreement = -71% to 51%) and categorical definition of typical pain (Kappa = 0.29; 95%CI: 0.21-0.37). CONCLUSION Clinical judgment based on a combination of chest pain features is neither accurate nor reproducible in predicting obstructive CAD in the acute setting. PMID:28400920

Equine recurrent uveitis: new methods of management.

PubMed

Gilger, Brian C; Michau, Tammy Miller

2004-08-01

Equine recurrent uveitis (ERU) is one of the most common causes of blindness in horses. Until recently, treatment of this condition consisted only of symptomatic therapy, typically with steroidal and nonsteroidal medications. A better understanding of the disease process(es) has permitted new medical and surgical therapies that have recently been described. This article highlights clinical features of ERU, the causes of ERU, and new management and treatment options for horses with ERU.

[Destructive mastoiditis with thrombosis of the sigmoid sinus in a 8 year-old child presenting with concomitant chicken pox].

PubMed

Bogomil'skiĭ, M R; Polunin, M M; Ivanenko, A M; Poliakov, A A

2014-01-01

The specific clinical feature of mastoidities that developed in a patient presenting with chicken pox was the rapid progress in temporal bone destruction with partial thrombosis of the sigmoid sinusis in the absence of typical manifestations of mastoiditis. The pronounced destructive changes found in a series of CT images were regarded as the indications for urgent antromastoidotomy with the puncture of the sigmoid sinusis.

Progressive aphasia secondary to Alzheimer disease pathology: A clinicopathologic and MRI study

PubMed Central

Josephs, Keith A.; Whitwell, Jennifer L.; Duffy, Joseph R.; Vanvoorst, Wendy A.; Strand, Edyth A.; Hu, William T.; Boeve, Bradley F.; Graff-Radford, Neill R.; Parisi, Joseph E.; Knopman, David S.; Dickson, Dennis W.; Jack, Clifford R.; Petersen, Ronald C.

2009-01-01

Background The pathology causing progressive aphasia is typically a variant of frontotemporal lobar degeneration, especially with ubiquitin-positive-inclusions (FTLD-U). Less commonly the underlying pathology is Alzheimer disease (AD). Objective To compare clinicopathological and MRI features of subjects with progressive aphasia and AD pathology, to subjects with aphasia and FTLD-U pathology, and subjects with typical AD. Methods We identified 5 subjects with aphasia and AD pathology and 5 with aphasia and FTLD-U pathology with an MRI from a total of 216 aphasia subjects. Ten subjects with typical AD clinical features and AD pathology were also identified. All subjects with AD pathology underwent pathological re-analysis with TDP-43 immunohistochemistry. Voxel-based morphometry (VBM) was used to assess patterns of grey matter atrophy in the aphasia cases with AD pathology, aphasia cases with FTLD-U, and typical AD cases with AD pathology, compared to a normal control group. Results All aphasic subjects had fluent speech output. However, those with AD pathology had better processing speed than those with FTLD-U pathology. Immunohistochemistry with TDP-43 antibodies was negative. VBM revealed grey matter atrophy predominantly in the temporoparietal cortices with notable sparing of the hippocampus in the aphasia with AD subjects. In comparison, the aphasic subjects with FTLD-U showed sparing of the parietal lobe. Typical AD subjects showed temporoparietal and hippocampal atrophy. Conclusions A temporoparietal pattern of atrophy on MRI in patients with progressive fluent aphasia and relatively preserved processing speed is suggestive of underlying AD pathology rather than FTLD-U. PMID:18166704

Azathioprine and 6-Mercaptopurine-induced Liver Injury: Clinical Features and Outcomes.

PubMed

Björnsson, Einar S; Gu, Jiezhun; Kleiner, David E; Chalasani, Naga; Hayashi, Paul H; Hoofnagle, Jay H

2017-01-01

The objective of the study was to define the clinical, biochemical, and histologic features of liver injury from thiopurines. Azathioprine (Aza) and 6-mercaptopurine (6-MP) can cause liver injury, but no large series exist. Clinical and laboratory data and 6-month outcomes of patients with thiopurine hepatotoxicity from the Drug-Induced Liver Injury Network Prospective Study were analyzed. Twenty-two patients were identified, 12 due to Aza and 10 due to 6-MP, with a median age of 55 years; the majority were female (68%). Inflammatory bowel disease was the indication in 55%, and the median thiopurine dose was 150 (range, 25 to 300) mg daily. The median latency to onset was 75 (range, 3 to 2584) days. Injury first arose after a dose escalation in 59% of patients, the median latency after dose increase being 44 (range, 3 to 254) days. At onset, the median alanine aminotransferase level was 210 U/L, alkaline phosphatase was 151 U/L, and bilirubin was 7.4 mg/dL (peak, 13.4 mg/dL). There were no major differences between Aza and 6-MP cases, but anicteric cases typically had nonspecific symptoms and a hepatocellular pattern of enzyme elevations, whereas icteric cases experienced cholestatic hepatitis with modest enzyme elevations in a mixed pattern. One patient with preexisting cirrhosis required liver transplantation; all others resolved clinically. One patient still had moderate alkaline phosphatase elevations 2 years after onset. Nearly three-quarters of patients with thiopurine-induced liver injury present with self-limited, cholestatic hepatitis, typically within 3 months of starting or a dose increase. The prognosis is favorable except in patients with preexisting cirrhosis.

Azathioprine and 6-Mercaptopurine Induced Liver Injury: Clinical Features and Outcomes

PubMed Central

Björnsson, Einar S.; Gu, Jiezhun; Kleiner, David E.; Chalasani, Naga; Hayashi, Paul H.; Hoofnagle, Jay H.

2017-01-01

Goals To define the clinical, biochemical and histologic features of liver injury from thiopurines. Background Azathioprine (Aza) and 6-mercaptopurine (6-MP) can cause liver injury but no large series exist. Methods Clinical and laboratory data and 6-months outcomes were analyzed from patients with thiopurine hepatotoxicity from the Drug-Induced Liver Injury Network Prospective Study. Results 22 patients were identified, 12 due to Aza and 10 6-MP, with a median age of 55 years and the majority females (68%). Inflammatory bowel disease was the indication in 55%, and median thiopurine dose 150 (range 25–300) mg daily. The median latency to onset was 75 (range 3 to 2584) days. Injury first arose after a dose escalation in 59% of patients; the median latency after dose increase being 44 (range 3 to 254) days. At onset, the median alanine aminotransferase was 210 U/L, alkaline phosphatase 151 U/L and bilirubin 7.4 mg/dL (peak 13.4 mg/dL). There were no major differences between Aza and 6-MP cases, but anicteric cases typically had non-specific symptoms and a hepatocellular pattern of enzyme elevations, whereas icteric cases experienced a cholestatic hepatitis with modest enzyme elevations in a mixed pattern. One patient with pre-existing cirrhosis required liver transplantation, all others resolved clinically. One patient still had moderate alkaline phosphatase elevations 2 years after onset. Conclusions Nearly three-quarters of patients with thiopurine-induced liver injury present with self-limited, cholestatic hepatitis, typically within 3 months of starting or a dose increase. The prognosis is favorable except in patients with pre-existing cirrhosis. PMID:27648552

Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.

PubMed

Boczek, Nicole J; Kruisselbrink, Teresa; Cousin, Margot A; Blackburn, Patrick R; Klee, Eric W; Gavrilova, Ralitza H; Lanpher, Brendan C

2017-05-01

STAR syndrome is a rare X-linked dominant disorder characterized by toe Syndactyly, Telecanthus, Anogenital malformations, and Renal malformations, and is caused by loss-of-function variants in FAM58A. Our proband presented with the hallmark features of STAR syndrome, as well as some additional less typical features including tethered cord and hearing loss. The proband's mother and maternal half-sister had similar clinical histories, but had variability in phenotypic severity. Clinical whole exome sequencing revealed a novel pathogenic nonsense variant, c.651G>A (p.Trp217X; NM_152274), in FAM58A in the proband, mother, and maternal half-sister. This pedigree represents the 11-13th patients described with STAR syndrome and the third instance of familial inheritance. To our knowledge, this is the first occurrence of a nonsense variant in FAM58A described in individuals with STAR syndrome and the phenotype in this pedigree suggests that tethered cord and hearing loss are features of STAR syndrome. © 2017 Wiley Periodicals, Inc.

Long-term outcomes of adults with features of VACTERL association

PubMed Central

Raam, Manu S.; Pineda-Alvarez, Daniel E.; Hadley, Donald W.; Solomon, Benjamin D.

2010-01-01

VACTERL association involves the presence of specific congenital, multi-organ malformations that tend to co-occur. Clinical and research efforts typically center on pediatric patients, and there is a scarcity of information in the literature regarding VACTERL-related issues and outcomes in adulthood. We describe here 11 adults with features of VACTERL association ascertained through our research study on the condition. In our cohort of adult patients, approximately 25% of medically significant malformations that are component features of VACTERL association, including 40% of vertebral, 50% of cardiac, and 50% of renal anomalies, were not identified during childhood. Additionally, medical sequelae of many of the primary malformations identified in infancy or early childhood persist or are first reported in adulthood. These sequelae can involve challenging medical and surgical management in adulthood. As most adults with VACTERL association are not specifically followed for VACTERL-related issues, a more uniform diagnostic work-up and a low threshold for investigation of medical sequelae of the primary disorder may enhance the quality of clinical management in these patients. PMID:20888933

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

PubMed Central

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

2017-01-01

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

Phenomenology of manic episodes according to the presence or absence of depressive features as defined in DSM-5: Results from the IMPACT self-reported online survey.

PubMed

Vieta, Eduard; Grunze, Heinz; Azorin, Jean-Michel; Fagiolini, Andrea

2014-03-01

The aim of this study was to describe the phenomenology of mania and depression in bipolar patients experiencing a manic episode with mixed features as defined in the new Diagnostic and Statistical Manual of Mental Disorders (DSM-5). In this multicenter, international on-line survey (the IMPACT study), 700 participants completed a 54-item questionnaire on demographics, diagnosis, symptomatology, communication of the disease, impact on life, and treatment received. Patients with a manic episode with or without DSM-5 criteria for mixed features were compared using descriptive and inferential statistics. Patients with more than 3 depressive symptoms were more likely to have had a delay in diagnosis, more likely to have experienced shorter symptom-free periods, and were characterized by a marked lower prevalence of typical manic manifestations. All questionnaire items exploring depressive symptomatology, including the DSM-5 criteria defining a manic episode as "with mixed features", were significantly overrepresented in the group of patients with depressive symptoms. Anxiety associated with irritability/agitation was also more frequent among patients with mixed features. Retrospective cross-sectional design, sensitive to recall bias. Two of the 6 DSM-5 required criteria for the specifier "with mixed features" were not explored: suicidality and psychomotor retardation. Bipolar disorder patients with at least 3 depressive symptoms during a manic episode self-reported typical symptomatology. Anxiety with irritability/agitation differentiated patients with depressive symptoms during mania from those with "pure" manic episodes. The results support the use of DSM-5 mixed features specifier and its value in research and clinical practice. Copyright © 2014 Elsevier B.V. All rights reserved.

Learning about the internal structure of categories through classification and feature inference.

PubMed

Jee, Benjamin D; Wiley, Jennifer

2014-01-01

Previous research on category learning has found that classification tasks produce representations that are skewed toward diagnostic feature dimensions, whereas feature inference tasks lead to richer representations of within-category structure. Yet, prior studies often measure category knowledge through tasks that involve identifying only the typical features of a category. This neglects an important aspect of a category's internal structure: how typical and atypical features are distributed within a category. The present experiments tested the hypothesis that inference learning results in richer knowledge of internal category structure than classification learning. We introduced several new measures to probe learners' representations of within-category structure. Experiment 1 found that participants in the inference condition learned and used a wider range of feature dimensions than classification learners. Classification learners, however, were more sensitive to the presence of atypical features within categories. Experiment 2 provided converging evidence that classification learners were more likely to incorporate atypical features into their representations. Inference learners were less likely to encode atypical category features, even in a "partial inference" condition that focused learners' attention on the feature dimensions relevant to classification. Overall, these results are contrary to the hypothesis that inference learning produces superior knowledge of within-category structure. Although inference learning promoted representations that included a broad range of category-typical features, classification learning promoted greater sensitivity to the distribution of typical and atypical features within categories.

Responsibility after the apparent end: 'following-up' in clinical ethics consultation.

PubMed

Finder, Stuart G; Bliton, Mark J

2011-09-01

Clinical ethics literature typically presents ethics consultations as having clear beginnings and clear ends. Experience in actual clinical ethics practice, however, reflects a different characterization, particularly when the moral experiences of ethics consultants are included in the discussion. In response, this article emphasizes listening and learning about moral experience as core activities associated with clinical ethics consultation. This focus reveals that responsibility in actual clinical ethics practice is generated within the moral scope of an ethics consultant's activities as she or he encounters the unique and specific features that emerge from interactions with a specific patient, or family, or practitioner within a given situation and over time. A long-form narrative about an ethics consultant's interactions is interwoven with a more didactic discussion to highlight the theme of responsibility and to probe questions that arise regarding follow-up within the practice of clinical ethics consultation. © 2011 Blackwell Publishing Ltd.

Bowel obstruction in patients with Alpers-Huttenlocher syndrome.

PubMed

Spiegler, J; Stefanova, I; Hellenbroich, Y; Sperner, J

2011-10-01

Alpers-Huttenlocher syndrome (AHS) is a very rare autosomal recessive disorder. AHS is caused by homozygous or compound heterozygous mutations in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG, chromosome 15q25). Most patients become symptomatic before the age of 2 years. We report 3 patients who were treated in our clinic between 2007 and 2010. All patients suffered from myoclonic seizures and had at least one refractory convulsive status which led to the diagnosis. All of them had varying degrees of developmental delay, 2 of them additionally ataxia. Gastrointestinal motility problems were severe in all patients despite only mildly deranged liver function. While in most aspects our patients present with typical AHS features, they also share intestinal problems, a feature that has not been recognized as typical for AHS before. AHS is a multisystem disorder that does affect all cell systems. Liver and brain are organs with the highest energy demand and are therefore usually affected early in the disease course of AHS. However, constipation and bowel obstruction should be regarded as typical complications in AHS and patients should be monitored and treated to improve quality of life. Regarding treatment options for epilepsy in AHS ketogenic diet as well as lacosamide might be considered. © Georg Thieme Verlag KG Stuttgart · New York.

Rare Case of an Epithelial Cyst in an Intrapancreatic Accessory Spleen Treated by Robot-Assisted Spleen Preserving Distal Pancreatectomy.

PubMed

van Dijck, Willemijn P M; Groot, Vincent P; Brosens, Lodewijk A A; Hagendoorn, Jeroen; Rinkes, Inne H M Borel; van Leeuwen, Maarten S; Molenaar, I Quintus

2016-01-01

Epithelial cyst in an intrapancreatic accessory spleen (ECIPAS) is exceedingly rare with only 57 cases reported since the first publication in 1980. Comprehensive clinical and diagnostic features remain to be clarified. We present a case of ECIPAS in a 21-year-old Philippine woman who was admitted with right upper quadrant abdominal pain. A cystic lesion in the pancreatic tail was discovered and evaluated by computed tomography and magnetic resonance images. Based on clinical and radiological features a solid pseudopapillary neoplasm was suspected. The patient underwent robot-assisted spleen preserving distal pancreatectomy. Pathological evaluation revealed a 26 mm intrapancreatic accessory spleen with a 16 mm cyst, lined by multilayered epithelium in the tail of the pancreas. The postoperative course was uneventful. Differentiating ECIPAS from (pre)malignant cystic pancreatic neoplasms based on clinical and radiological features remains difficult. When typical radiological signs can be combined with scintigraphy using Technetium-99m labelled colloid or Technetium-99m labelled erythrocytes, which can identify the solid component of the lesion as splenic tissue, it should be possible to make the right diagnosis noninvasively. When pancreatectomy is inevitable due to symptoms or patient preference, minimally invasive laparoscopic or robot-assisted spleen preserving distal pancreatectomy should be considered.

Rare Case of an Epithelial Cyst in an Intrapancreatic Accessory Spleen Treated by Robot-Assisted Spleen Preserving Distal Pancreatectomy

PubMed Central

van Dijck, Willemijn P. M.; Brosens, Lodewijk A. A.; Hagendoorn, Jeroen; Rinkes, Inne H. M. Borel; van Leeuwen, Maarten S.

2016-01-01

Epithelial cyst in an intrapancreatic accessory spleen (ECIPAS) is exceedingly rare with only 57 cases reported since the first publication in 1980. Comprehensive clinical and diagnostic features remain to be clarified. We present a case of ECIPAS in a 21-year-old Philippine woman who was admitted with right upper quadrant abdominal pain. A cystic lesion in the pancreatic tail was discovered and evaluated by computed tomography and magnetic resonance images. Based on clinical and radiological features a solid pseudopapillary neoplasm was suspected. The patient underwent robot-assisted spleen preserving distal pancreatectomy. Pathological evaluation revealed a 26 mm intrapancreatic accessory spleen with a 16 mm cyst, lined by multilayered epithelium in the tail of the pancreas. The postoperative course was uneventful. Differentiating ECIPAS from (pre)malignant cystic pancreatic neoplasms based on clinical and radiological features remains difficult. When typical radiological signs can be combined with scintigraphy using Technetium-99m labelled colloid or Technetium-99m labelled erythrocytes, which can identify the solid component of the lesion as splenic tissue, it should be possible to make the right diagnosis noninvasively. When pancreatectomy is inevitable due to symptoms or patient preference, minimally invasive laparoscopic or robot-assisted spleen preserving distal pancreatectomy should be considered. PMID:27847657

A family with Wagner syndrome with uveitis and a new versican mutation

PubMed Central

Rothschild, Pierre-Raphaël; Brézin, Antoine P.; Nedelec, Brigitte; des Roziers, Cyril Burin; Ghiotti, Tiffany; Orhant, Lucie; Boimard, Mathieu

2013-01-01

Purpose To report the clinical and molecular findings of a kindred with Wagner syndrome (WS) revealed by intraocular inflammatory features. Methods Eight available family members underwent complete ophthalmologic examination, including laser flare cell meter measurements. Collagen, type II, alpha 1, versican (VCAN), frizzled family receptor 4, low density lipoprotein receptor-related protein 5, tetraspanin 12, and Norrie disease (pseudoglioma) genes were screened with direct sequencing. Results The index case was initially referred for unexplained severe and chronic postoperative bilateral uveitis following a standard cataract surgery procedure. Clinical examination of the proband revealed an optically empty vitreous with avascular vitreous strands and veils, features highly suggestive of WS. The systematic familial ophthalmologic examination identified three additional unsuspected affected family members who also presented with the WS phenotype, including uveitis for one of them. We identified a novel c.4004–6T>A nucleotide substitution at the acceptor splice site of intron 7 of the VCAN gene that segregated with the disease phenotype. Conclusions We present a family with WS with typical WS features and intraocular inflammatory manifestations associated with a novel splice site VCAN mutation. Beyond the structural role in the retinal-vitreous architecture, versican is also emerging as a pivotal mediator of the inflammatory response, supporting uveitis predisposition as a clinical manifestation of WS. PMID:24174867

A family with Wagner syndrome with uveitis and a new versican mutation.

PubMed

Rothschild, Pierre-Raphaël; Brézin, Antoine P; Nedelec, Brigitte; Burin des Roziers, Cyril; Ghiotti, Tiffany; Orhant, Lucie; Boimard, Mathieu; Valleix, Sophie

2013-01-01

To report the clinical and molecular findings of a kindred with Wagner syndrome (WS) revealed by intraocular inflammatory features. Eight available family members underwent complete ophthalmologic examination, including laser flare cell meter measurements. Collagen, type II, alpha 1, versican (VCAN), frizzled family receptor 4, low density lipoprotein receptor-related protein 5, tetraspanin 12, and Norrie disease (pseudoglioma) genes were screened with direct sequencing. The index case was initially referred for unexplained severe and chronic postoperative bilateral uveitis following a standard cataract surgery procedure. Clinical examination of the proband revealed an optically empty vitreous with avascular vitreous strands and veils, features highly suggestive of WS. The systematic familial ophthalmologic examination identified three additional unsuspected affected family members who also presented with the WS phenotype, including uveitis for one of them. We identified a novel c.4004-6T>A nucleotide substitution at the acceptor splice site of intron 7 of the VCAN gene that segregated with the disease phenotype. We present a family with WS with typical WS features and intraocular inflammatory manifestations associated with a novel splice site VCAN mutation. Beyond the structural role in the retinal-vitreous architecture, versican is also emerging as a pivotal mediator of the inflammatory response, supporting uveitis predisposition as a clinical manifestation of WS.

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes

PubMed Central

de Vries, Tamar I; R Monroe, Glen; van Belzen, Martine J; van der Lans, Christian A; Savelberg, Sanne MC; Newman, William G; van Haaften, Gijs; Nievelstein, Rutger A; van Haelst, Mieke M

2016-01-01

Rubinstein–Taybi syndrome (RTS, OMIM 180849) and Filippi syndrome (FLPIS, OMIM 272440) are both rare syndromes, with multiple congenital anomalies and intellectual deficit (MCA/ID). We present a patient with intellectual deficit, short stature, bilateral syndactyly of hands and feet, broad thumbs, ocular abnormalities, and dysmorphic facial features. These clinical features suggest both RTS and FLPIS. Initial DNA analysis of DNA isolated from blood did not identify variants to confirm either of these syndrome diagnoses. Whole-exome sequencing identified a homozygous variant in C9orf173, which was novel at the time of analysis. Further Sanger sequencing analysis of FLPIS cases tested negative for CKAP2L variants did not, however, reveal any further variants. Subsequent analysis using DNA isolated from buccal mucosa revealed a mosaic variant in CREBBP. This report highlights the importance of excluding mosaic variants in patients with a strong but atypical clinical presentation of a MCA/ID syndrome if no disease-causing variants can be detected in DNA isolated from blood samples. As the striking syndactyly observed in the present case is typical for FLPIS, we suggest CREBBP analysis in saliva samples for FLPIS syndrome cases in which no causal CKAP2L variant is detected. PMID:26956253

Identification of men with low-risk biopsy-confirmed prostate cancer as candidates for active surveillance.

PubMed

Lin, Daniel W; Crawford, E David; Keane, Thomas; Evans, Brent; Reid, Julia; Rajamani, Saradha; Brown, Krystal; Gutin, Alexander; Tward, Jonathan; Scardino, Peter; Brawer, Michael; Stone, Steven; Cuzick, Jack

2018-06-01

A combined clinical cell-cycle risk (CCR) score that incorporates prognostic molecular and clinical information has been recently developed and validated to improve prostate cancer mortality (PCM) risk stratification over clinical features alone. As clinical features are currently used to select men for active surveillance (AS), we developed and validated a CCR score threshold to improve the identification of men with low-risk disease who are appropriate for AS. The score threshold was selected based on the 90th percentile of CCR scores among men who might typically be considered for AS based on NCCN low/favorable-intermediate risk criteria (CCR = 0.8). The threshold was validated using 10-year PCM in an unselected, conservatively managed cohort and in the subset of the same cohort after excluding men with high-risk features. The clinical effect was evaluated in a contemporary clinical cohort. In the unselected validation cohort, men with CCR scores below the threshold had a predicted mean 10-year PCM of 2.7%, and the threshold significantly dichotomized low- and high-risk disease (P = 1.2 × 10 -5 ). After excluding high-risk men from the validation cohort, men with CCR scores below the threshold had a predicted mean 10-year PCM of 2.3%, and the threshold significantly dichotomized low- and high-risk disease (P = 0.020). There were no prostate cancer-specific deaths in men with CCR scores below the threshold in either analysis. The proportion of men in the clinical testing cohort identified as candidates for AS was substantially higher using the threshold (68.8%) compared to clinicopathologic features alone (42.6%), while mean 10-year predicted PCM risks remained essentially identical (1.9% vs. 2.0%, respectively). The CCR score threshold appropriately dichotomized patients into low- and high-risk groups for 10-year PCM, and may enable more appropriate selection of patients for AS. Copyright © 2018 Elsevier Inc. All rights reserved.

Cemento-osseous dysplasia in an elderly Asian male: a case report.

PubMed

Komabayashi, Takashi; Zhu, Qiang

2011-03-01

Cemento-osseous dysplasia is a disorder typically found in middle-aged black women. However, the present report describes a case in a 61-year-old Vietnamese male. Without proper pulp testing and diagnosis, the radiographic presentation can easily be misdiagnosed as periapical periodontitis. On the basis of pulp vitality, lack of clinical symptoms and radiographic features, the diagnosis in this case was periapical cemento-osseous dysplasia at the mixed stage, which generally requires no treatment. At the 18-month follow-up, the patient was still asymptomatic and none of the clinical signs had changed. This case highlights the importance of careful clinical examination, including a pulp vitality test, and of having an unbiased view of age, gender, and ethnicity when diagnosing this condition.

Anesthetic management of Costello syndrome: a case report.

PubMed

Williams, Christol

2014-04-01

Costello syndrome is a rare genetic disorder with an estimated 300 medical cases worldwide. Typical features that characterize this syndrome include short stature, macrocephaly, developmental delay, loose skin folds, distinctive coarse facial features, and multiorgan system anomalies. The following case report discusses the anesthetic management for a 3-year-old boy undergoing general anesthesia for a scheduled dental restoration, hydrocelectomy, inguinal hernia repair, and bilateral myringotomy with placement of pressure equalization tubes. A scarcity of literature for the anesthetic management of Costello syndrome (also known as faciocutaneoskeletal syndrome) exists. Utilizing an overview of the pertinent literature, clinical practice recommendations are suggested for the anesthetic implications of managing a pediatric patient with this rare syndrome.

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.

Theophylline-Induced Seizures: Clinical and Pathophysiologic Aspects

PubMed Central

Nakada, Tsutomu; Kwee, Ingrid L.; Lerner, Alfred M.; Remler, Michael P.

1983-01-01

The clinical features and management of theophylline-induced seizures are not well appreciated in spite of their unique aspects. These seizures tend to occur in neurologically intact patients and leave no or only minor neurologic sequelae if controlled early. They begin with focal motor seizures with or without secondary generalization and are followed by stupor or coma. They are responsive only to adjustment of theophylline dosage. Should the motor phenomenon persist, it takes the form of epilepsia partialis continua. Extensive workup for a structural brain lesion may be unrewarding. The electroencephalogram typically shows periodic lateralized epileptiform discharges, which may provide a diagnostic clue. PMID:6858124

Antimicrobial Therapy for Legionnaire's Disease: Antibiotic Stewardship Implications.

PubMed

Cunha, Cheston B; Cunha, Burke A

2017-03-01

Legionnaire's disease is a common cause of community-acquired pneumonia (CAP). Although no single clinical feature is diagnostic, if characteristic extrapulmonary findings are present a presumptive clinical syndromic diagnosis is possible. Depending on geographic location, season, and physician awareness, Legionnaire's disease may be included in the differential diagnosis of CAP. Some antibiotics effective against Legionella sp are also effective in treating the typical bacterial causes of CAP. From an antimicrobial stewardship program (ASP) perspective, monotherapy is preferred to double-drug therapy. From an ASP and pharmacoeconomic standpoint, monotherapy with doxycycline or a respiratory quinolone provides optimal cost effective therapy. Copyright © 2016 Elsevier Inc. All rights reserved.

Two cases of traumatic head injury mimicking acute encephalopathy with biphasic seizures and late reduced diffusion.

PubMed

Nishiyama, Masahiro; Fujita, Kyoko; Maruyama, Azusa; Nagase, Hiroaki

2014-11-01

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) presents a distinct clinical course of biphasic seizures and impaired consciousness. These symptoms are followed by reduced diffusion in the subcortical white matter on magnetic resonance imaging that is typically observed between 3 and 9 days after illness onset. Here, we report two cases of traumatic head injury with clinical and radiological features similar to those for AESD. The similarities between our cases and AESD may be useful in understanding the pathogenesis of AESD. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Laugier-Hunziker syndrome: A case report and review of the literature.

PubMed

Rangwala, Sophia; Doherty, Christy B; Katta, Rajani

2010-12-15

Laugier-Hunziker syndrome (LHS) is a rare acquired disorder characterized by diffuse macular hyperpigmentation of the oral mucosa and, at times, longitudinal melanonychia. Although LHS is considered a benign disease with no systemic manifestations or malignant potential, it is important to rule out other mucocutaneous pigmentary disorders that do require medical management. Prompt clinical recognition also averts the need for excessive and invasive procedures and treatments. To date, only four cases have been reported in the United States. We present a 77-year-old man who had clinical features typical of LHS and we then provide a review of the literature on LHS and its mimickers.

Drug-induced lupus erythematosus.

PubMed

Marzano, A V; Tavecchio, S; Menicanti, C; Crosti, C

2014-06-01

Drug-induced lupus erythematosus (DI-LE) is defined as an entity characterized by clinical manifestations and immunopathological serum findings similar to those of idiopathic lupus but which is temporally related to drug exposure and resolves after withdrawal of the implicated drug. Similarly to idiopathic lupus, DI-LE can be divided into systemic LE, subacute cutaneous LE (SCLE), chronic cutaneous LE (CCLE) and cutaneous LE tumidus. DI-SCLE is the most frequent variant of drug-induced cutaneous LE and presents mainly with annular-polycyclic lesions; the clinical picture is often widespread, with involvement of the lower legs that are usually spared in idiopathic SCLE. ANA and anti-Ro/SSA antibodies are typically present, whereas antihistone antibodies are uncommonly found. We have recently addressed the question whether DI-SCLE differs significantly from its idiopathic counterpart by virtue of clinical features and, based on our findings, we have suggested that the frequent occurrence of malar rash and bullous, erythema multiforme-like and vasculitic manifestations can be regarded as the hallmark of DI-SCLE. In contrast, the histology is not a useful diagnostic criterion for DI-SCLE, considering that the typical pattern of lichenoid interface dermatitis is seen only in the early stage of disease and tissue eosinophilia does not represent a differentiating histopathological feature. DI-CCLE and DI-LE tumidus, albeit possibly misdiagnosed, are rarely observed and are characterized by classic discoid lesions and erythematous-oedematous plaques on sun exposed areas, respectively. Management of DI-LE is based on the discontinuation of the offending drug; topical and/or systemic corticosteroids and other immunomodulating/immunosuppressive agents should be reserved for resistant cases.

Imaging of autoimmune encephalitis--Relevance for clinical practice and hippocampal function.

PubMed

Heine, J; Prüss, H; Bartsch, T; Ploner, C J; Paul, F; Finke, C

2015-11-19

The field of autoimmune encephalitides associated with antibodies targeting cell-surface antigens is rapidly expanding and new antibodies are discovered frequently. Typical clinical presentations include cognitive deficits, psychiatric symptoms, movement disorders and seizures and the majority of patients respond well to immunotherapy. Pathophysiological mechanisms and clinical features are increasingly recognized and indicate hippocampal dysfunction in most of these syndromes. Here, we review the neuroimaging characteristics of autoimmune encephalitides, including N-methyl-d-aspartate (NMDA) receptor, leucine-rich glioma inactivated 1 (LGI1), contactin-associated protein-like 2 (CASPR2) encephalitis as well as more recently discovered and less frequent forms such as dipeptidyl-peptidase-like protein 6 (DPPX) or glycine receptor encephalitis. We summarize findings of routine magnetic resonance imaging (MRI) investigations as well as (18)F-fluoro-2-deoxy-d-glucose (FDG)-positron emission tomography (PET) and single photon emission tomography (SPECT) imaging and relate these observations to clinical features and disease outcome. We furthermore review results of advanced imaging analyses such as diffusion tensor imaging, volumetric analyses and resting-state functional MRI. Finally, we discuss contributions of these neuroimaging observations to the understanding of the pathophysiology of autoimmune encephalitides. Copyright © 2015 IBRO. Published by Elsevier Ltd. All rights reserved.

Familial early-onset dementia with tau intron 10 + 16 mutation with clinical features similar to those of Alzheimer disease.

PubMed

Doran, Mark; du Plessis, Daniel G; Ghadiali, Eric J; Mann, David M A; Pickering-Brown, Stuart; Larner, Andrew J

2007-10-01

Frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) owing to the tau intron 10 + 16 mutation usually occurs with a prototypical frontotemporal dementia phenotype with prominent disinhibition and affective disturbances. To report a new FTDP-17 pedigree with the tau intron 10 + 16 mutation demonstrating a clinical phenotype suggestive of Alzheimer disease. Case reports. Regional neuroscience centers in northwest England. Patients We examined 4 members of a kindred in which 8 individuals were affected in 3 generations. All 4 patients reported memory difficulty. Marked anomia was also present, but behavioral disturbances were conspicuously absent in the early stages of disease. All patients had an initial clinical diagnosis of Alzheimer disease. No mutations were found in the presenilin or amyloid precursor protein genes. Pathologic examination of the proband showed features typical of FTDP-17, and tau gene analysis showed the intron 10 + 16 mutation. This pedigree illustrates the phenotypic variability of tau intron 10 + 16 mutations. In pedigrees with a clinical diagnosis of Alzheimer disease but without presenilin or amyloid precursor protein gene mutations, tau gene mutations may be found.

Chemical kinetic mechanistic models to investigate cancer biology and impact cancer medicine.

PubMed

Stites, Edward C

2013-04-01

Traditional experimental biology has provided a mechanistic understanding of cancer in which the malignancy develops through the acquisition of mutations that disrupt cellular processes. Several drugs developed to target such mutations have now demonstrated clinical value. These advances are unequivocal testaments to the value of traditional cellular and molecular biology. However, several features of cancer may limit the pace of progress that can be made with established experimental approaches alone. The mutated genes (and resultant mutant proteins) function within large biochemical networks. Biochemical networks typically have a large number of component molecules and are characterized by a large number of quantitative properties. Responses to a stimulus or perturbation are typically nonlinear and can display qualitative changes that depend upon the specific values of variable system properties. Features such as these can complicate the interpretation of experimental data and the formulation of logical hypotheses that drive further research. Mathematical models based upon the molecular reactions that define these networks combined with computational studies have the potential to deal with these obstacles and to enable currently available information to be more completely utilized. Many of the pressing problems in cancer biology and cancer medicine may benefit from a mathematical treatment. As work in this area advances, one can envision a future where such models may meaningfully contribute to the clinical management of cancer patients.

Hereditary motor and sensory neuropathy with proximal predominance (HMSN-P).

PubMed

Campellone, Joseph V

2013-06-01

Hereditary motor and sensory neuropathy with proximal predominance (HMSN-P) is a rare disorder inherited in an autosomal dominant fashion. Patients present with slowly progressive proximal-predominant weakness, painful muscle cramps, fasciculations, large-fiber sensory loss, and areflexia. Electrodiagnostic (EDX) studies typically reveal abnormalities consistent with a sensorimotor neuronopathy. A patient with HMSN-P underwent EDX studies, revealing ongoing and chronic neurogenic denervation, motor unit instability, and neuromyotonic discharges, further defining the spectrum of EDX findings in HMSN-P. The clinical, pathological, and genetic features are also reviewed. The appearance of HMSN-P in the United States and elsewhere calls for clinicians in nonendemic regions to be familiar with this rare disorder, which has typically been geographically confined.

[Morphological pathology of vessels in granulomatosis with polyangiitis (Wegener's disease)].

PubMed

Zerbino, D D; Zimba, E A

2015-01-01

to investigate the incidence of injuries in different vascular beds and the morphopathological changes in vessels in granulomatosis with polyangiitis. The morphopathological features of vascular injuries were investigated in 11 dead patients aged 16--74 years with granulomatosis with polyangiitis. Proliferative and destructive angiitis with predominant involvement of microcirculatory vessels and with development of necrosis-prone granulomas in their walls and perivascularly was established to underlie the clinical manifestations of granulomatosis with polyangiitis. The most typical localization of the pathologic process is the vessels of the upper respiratory tract, lungs, and kidneys. Cardiopulmonary and renal failures are causes of death in the majority of cases. It should be noted that the vessels of the heart, liver, and gastrointestinal tract are frequently involved in the pathological process. Vascular changes in these organs determine the clinical features of granulomatosis with polyangiitis and lead to a number of fatal complications. Granulomatosis with polyangiitis is a systemic disease with polymorphism of clinical manifestations, which requires in-depth analysis based on current precision patient examination methods, including a histopathological study.

Phenomenology and classification of dystonia: a consensus update

PubMed Central

Albanese, Alberto; Bhatia, Kailash; Bressman, Susan B.; DeLong, Mahlon R.; Fahn, Stanley; Fung, Victor S.C.; Hallett, Mark; Jankovic, Joseph; Jinnah, H.A.; Klein, Christine; Lang, Anthony E.; Mink, Jonathan W.; Teller, Jan K.

2013-01-01

This report describes the consensus outcome of an international panel consisting of investigators with years of experience in this field that reviewed the definition and classification of dystonia. Agreement was obtained based on a consensus development methodology during three in-person meetings and manuscript review by mail. Dystonia is defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting, and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation. Dystonia is classified along two axes: clinical characteristics, including age at onset, body distribution, temporal pattern and associated features (additional movement disorders or neurological features), and etiology, which includes nervous system pathology and inheritance. The clinical characteristics fall into several specific dystonia syndromes that help to guide diagnosis and treatment. We provide here a new general definition of dystonia and propose a new classification. We encourage clinicians and researchers to use these innovative definition and classification and test them in the clinical setting on a variety of patients with dystonia. PMID:23649720

Automatic evaluation of hypernasality based on a cleft palate speech database.

PubMed

He, Ling; Zhang, Jing; Liu, Qi; Yin, Heng; Lech, Margaret; Huang, Yunzhi

2015-05-01

The hypernasality is one of the most typical characteristics of cleft palate (CP) speech. The evaluation outcome of hypernasality grading decides the necessity of follow-up surgery. Currently, the evaluation of CP speech is carried out by experienced speech therapists. However, the result strongly depends on their clinical experience and subjective judgment. This work aims to propose an automatic evaluation system for hypernasality grading in CP speech. The database tested in this work is collected by the Hospital of Stomatology, Sichuan University, which has the largest number of CP patients in China. Based on the production process of hypernasality, source sound pulse and vocal tract filter features are presented. These features include pitch, the first and second energy amplified frequency bands, cepstrum based features, MFCC, short-time energy in the sub-bands features. These features combined with KNN classier are applied to automatically classify four grades of hypernasality: normal, mild, moderate and severe. The experiment results show that the proposed system achieves a good performance. The classification rates for four hypernasality grades reach up to 80.4%. The sensitivity of proposed features to the gender is also discussed.

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

PubMed Central

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

2014-01-01

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

Hypomorphic NOTCH3 mutation in an Italian family with CADASIL features.

PubMed

Moccia, Marcello; Mosca, Lorena; Erro, Roberto; Cervasio, Mariarosaria; Allocca, Roberto; Vitale, Carmine; Leonardi, Antonio; Caranci, Ferdinando; Del Basso-De Caro, Maria Laura; Barone, Paolo; Penco, Silvana

2015-01-01

The cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is because of NOTCH3 mutations affecting the number of cysteine residues. In this view, the role of atypical NOTCH3 mutations is still debated. Therefore, we investigated a family carrying a NOTCH3 nonsense mutation, with dominantly inherited recurrent cerebrovascular disorders. Among 7 family members, 4 received a clinical diagnosis of CADASIL. A heterozygous truncating mutation in exon 3 (c.307C>T, p.Arg103X) was found in the 4 clinically affected subjects and in one 27-year old lady, only complaining of migraine with aura. Magnetic resonance imaging scans found typical signs of small-vessel disease in the 4 affected subjects, supporting the clinical diagnosis. Skin biopsies did not show the typical granular osmiophilic material, but only nonspecific signs of vascular damage, resembling those previously described in Notch3 knockout mice. Interestingly, messenger RNA (mRNA) analysis supports the hypothesis of an atypical NOTCH3 mutation, suggesting a nonsense-mediated mRNA decay. In conclusion, the present study broadens the spectrum of CADASIL mutations, and, therefore, opens new insights about Notch3 signaling. Copyright © 2015 Elsevier Inc. All rights reserved.

Invasive growth patterns of juvenile nasopharyngeal angiofibroma: radiological imaging and clinical implications.

PubMed

Szymańska, Anna; Szymański, Marcin; Czekajska-Chehab, Elżbieta; Szczerbo-Trojanowska, Małgorzata

2014-07-01

Juvenile nasopharyngeal angiofibroma is a benign lesion with locally aggressive nature. Knowledge of its typical growth patterns is crucial for precise preoperative staging and adequate preoperative patient counseling. This pictorial essay focuses on characteristic radiological features and paths of invasive growth of this rare tumor. Also, the impact of accurate preoperative evaluation of tumor extensions on surgical planning and results of treatment are discussed. © The Foundation Acta Radiologica 2013 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Encephalitis due to antibodies to voltage gated potassium channel (VGKC) with cerebellar involvement in a teenager

PubMed Central

Langille, Megan M.; Desai, Jay

2015-01-01

Encephalitis due to antibodies to voltage gated potassium channel (VGKC) typically presents with limbic encephalitis and medial temporal lobe involvement on neuroimaging. We describe a case of 13 year girl female with encephalitis due to antibodies to VGKC with signal changes in the cerebellar dentate nuclei bilaterally and clinical features that suggested predominant cerebellar involvement. These have never been reported previously in the literature. Our case expands the phenotypic spectrum of this rare condition. PMID:26019428

Encephalitis due to antibodies to voltage gated potassium channel (VGKC) with cerebellar involvement in a teenager.

PubMed

Langille, Megan M; Desai, Jay

2015-01-01

Encephalitis due to antibodies to voltage gated potassium channel (VGKC) typically presents with limbic encephalitis and medial temporal lobe involvement on neuroimaging. We describe a case of 13 year girl female with encephalitis due to antibodies to VGKC with signal changes in the cerebellar dentate nuclei bilaterally and clinical features that suggested predominant cerebellar involvement. These have never been reported previously in the literature. Our case expands the phenotypic spectrum of this rare condition.

Proliferative verrucous leukoplakia: an aggressive form of oral leukoplakia.

PubMed

Shopper, Thomas P; Brannon, Robert B; Stalker, William H

2004-01-01

Proliferative verrucous leukoplakia (PVL) is an aggressive form of oral leukoplakia that is persistent, often multifocal, and refractory to treatment with a high risk of recurrence and malignant transformation. This article describes the clinical aspects and histologic features of a case that demonstrated the typical behavior pattern in a long-standing, persistent lesion of PVL of the mandibular gingiva and that ultimately developed into squamous cell carcinoma. Prognosis is poor for this seemingly harmless-appearing white lesion of the oral mucosa.

Lethal Progressive Thoracic Insufficiency in a Neonate Due to Jarcho Levin Syndrome

PubMed Central

Bhutia, Euden; Maria, Arti; Verma, Arushi; Sethi, Sidharth Kumar

2014-01-01

A rare case of Jarcho Levin syndrome (JLS) presenting as a lethal progressive respiratory insufficiency in early neonatal period is reported. The neonate had classical features of this syndrome including vertebral segmentation defects, typical costo-vertebral fusion defects and scoliosis resulting in small thoracic volume and limited chest expansion; all consistent with a clinical diagnosis of JLS with thoracic insufficiency. In addition, our case had a rare association of dextrocardia and acyanotic congenital heart disease. PMID:24741543

Training for teamwork through in situ simulations

PubMed Central

Sorensen, Asta; Poehlman, Jon; Bollenbacher, John; Riggan, Scott; Davis, Stan; Miller, Kristi; Ivester, Thomas; Kahwati, Leila

2015-01-01

In situ simulations allow healthcare teams to practice teamwork and communication as well as clinical management skills in a team's usual work setting with typically available resources and equipment. The purpose of this video is to demonstrate how to plan and conduct in situ simulation training sessions, with particular emphasis on how such training can be used to improve communication and teamwork. The video features an in situ simulation conducted at a labour and delivery unit in response to postpartum hemorrhage. PMID:26294962

Incidental finding of single coronary artery in a patient with alcoholic cardiomyopathy presenting as acute heart failure.

PubMed

McNair, Patrick; Jones, Erica; Truong, Quynh; Singh, Harsimran

Single coronary artery is a rare clinical finding. Diagnosis is typically made incidentally after the patient presents with symptoms and undergoes coronary angiography, coronary computed tomography angiography (CTA), or post-mortem during autopsy. Several high-risk features of anomalous coronary arteries have been described in the literature. Our paper describes a case of dilated alcoholic cardiomyopathy presenting as heart failure with diagnostic workup incidentally revealing single coronary artery. Copyright © 2017 Elsevier Inc. All rights reserved.

Kawasaki Disease Presenting as Acute Intestinal Obstruction

PubMed Central

Lone, Yasir Ahmad; Menon, Jagadeesh; Menon, Prema; Vaiphei, Kim; Narasimha Rao, Katragadda Lakshmi; Thapa, Baburam; Gupta, Kirti

2017-01-01

Kawasaki disease (KD) is an acute febrile illness of childhood associated with vasculitis of medium-sized arteries especially the coronary arteries. Typical clinical features involving the skin, mucous surfaces, etc., occur sequentially over a few days. We report a rare presentation of KD as a surgical abdomen in a 2-year-old boy. Awareness of this presentation is important as it can otherwise lead to a delay in starting potentially life-saving intervention like intravenous immunoglobulins for cardiac complications kept cryptic by the manifest acute abdomen. PMID:28694577

The behavioural/dysexecutive variant of Alzheimer’s disease: clinical, neuroimaging and pathological features

PubMed Central

Pijnenburg, Yolande A. L.; Perry, David C.; Cohn-Sheehy, Brendan I.; Scheltens, Nienke M. E.; Vogel, Jacob W.; Kramer, Joel H.; van der Vlies, Annelies E.; Joie, Renaud La; Rosen, Howard J.; van der Flier, Wiesje M.; Grinberg, Lea T.; Rozemuller, Annemieke J.; Huang, Eric J.; van Berckel, Bart N. M.; Miller, Bruce L.; Barkhof, Frederik; Jagust, William J.; Scheltens, Philip; Seeley, William W.; Rabinovici, Gil D.

2015-01-01

A ‘frontal variant of Alzheimer’s disease’ has been described in patients with predominant behavioural or dysexecutive deficits caused by Alzheimer’s disease pathology. The description of this rare Alzheimer’s disease phenotype has been limited to case reports and small series, and many clinical, neuroimaging and neuropathological characteristics are not well understood. In this retrospective study, we included 55 patients with Alzheimer’s disease with a behavioural-predominant presentation (behavioural Alzheimer’s disease) and a neuropathological diagnosis of high-likelihood Alzheimer’s disease (n = 17) and/or biomarker evidence of Alzheimer’s disease pathology (n = 44). In addition, we included 29 patients with autopsy/biomarker-defined Alzheimer’s disease with a dysexecutive-predominant syndrome (dysexecutive Alzheimer’s disease). We performed structured chart reviews to ascertain clinical features. First symptoms were more often cognitive (behavioural Alzheimer’s disease: 53%; dysexecutive Alzheimer’s disease: 83%) than behavioural (behavioural Alzheimer’s disease: 25%; dysexecutive Alzheimer’s disease: 3%). Apathy was the most common behavioural feature, while hyperorality and perseverative/compulsive behaviours were less prevalent. Fifty-two per cent of patients with behavioural Alzheimer’s disease met diagnostic criteria for possible behavioural-variant frontotemporal dementia. Overlap between behavioural and dysexecutive Alzheimer’s disease was modest (9/75 patients). Sixty per cent of patients with behavioural Alzheimer’s disease and 40% of those with the dysexecutive syndrome carried at least one APOE ε4 allele. We also compared neuropsychological test performance and brain atrophy (applying voxel-based morphometry) with matched autopsy/biomarker-defined typical (amnestic-predominant) Alzheimer’s disease (typical Alzheimer’s disease, n = 58), autopsy-confirmed/Alzheimer’s disease biomarker-negative behavioural variant frontotemporal dementia (n = 59), and controls (n = 61). Patients with behavioural Alzheimer’s disease showed worse memory scores than behavioural variant frontotemporal dementia and did not differ from typical Alzheimer’s disease, while executive function composite scores were lower compared to behavioural variant frontotemporal dementia and typical Alzheimer’s disease. Voxel-wise contrasts between behavioural and dysexecutive Alzheimer’s disease patients and controls revealed marked atrophy in bilateral temporoparietal regions and only limited atrophy in the frontal cortex. In direct comparison with behavioural and those with dysexecutive Alzheimer’s disease, patients with behavioural variant frontotemporal dementia showed more frontal atrophy and less posterior involvement, whereas patients with typical Alzheimer’s disease were slightly more affected posteriorly and showed less frontal atrophy (P < 0.001 uncorrected). Among 24 autopsied behavioural Alzheimer’s disease/dysexecutive Alzheimer’s disease patients, only two had primary co-morbid FTD-spectrum pathology (progressive supranuclear palsy). In conclusion, behavioural Alzheimer’s disease presentations are characterized by a milder and more restricted behavioural profile than in behavioural variant frontotemporal dementia, co-occurrence of memory dysfunction and high APOE ε4 prevalence. Dysexecutive Alzheimer’s disease presented as a primarily cognitive phenotype with minimal behavioural abnormalities and intermediate APOE ε4 prevalence. Both behavioural Alzheimer’s disease and dysexecutive Alzheimer’s disease presentations are distinguished by temporoparietal-predominant atrophy. Based on the relative sparing of frontal grey matter, we propose to redefine these clinical syndromes as ‘the behavioural/dysexecutive variant of Alzheimer’s disease’ rather than frontal variant Alzheimer’s disease. Further work is needed to determine whether behavioural and dysexecutive-predominant presentations of Alzheimer’s disease represent distinct phenotypes or a single continuum. PMID:26141491

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

PubMed Central

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

2017-01-01

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

Lesion with morphologic feature of organizing pneumonia (OP) in CT-guided lung biopsy samples for diagnosis of bronchiolitis obliterans organizing pneumonia (BOOP): a retrospective study of 134 cases in a single center.

PubMed

Miao, Liyun; Wang, Yongsheng; Li, Yan; Ding, Jingjing; Chen, Lulu; Dai, Jinghong; Cai, Hourong; Xiao, Yonglong; Cao, Min; Huang, Mei; Qiu, Yuying; Meng, Fanqing; Fan, Xiangshan; Zhang, Deping; Song, Yong

2014-09-01

Small biopsy samples are generally considered inconclusive for bronchiolitis obliterans organizing pneumonia (BOOP) diagnosis despite their potential to reveal organizing pneumonia (OP) pathologically, necessitating risky invasive tissue biopsy during surgery for reliable confirmation. OP by CT-guided lung biopsy was to evaluate the role in the diagnosis of BOOP. A retrospective review of 134 cases with the OP feature in the CT-guided lung biopsy samples between 2004 and 2011 at a single center was conducted. Diagnostic accuracy of OP by CT-guided lung biopsy and clinical-radiographic data alone were compared. After exclusion of 11 cases due to pathology with others besides OP and 15 cases for loss to follow-up, 108 were included. Of these, 95 cases and 13 cases were classified as BOOP and non-BOOP group, respectively. Among BOOP group, only 30 were initially diagnosed as BOOP according to the typical clinical and radiographic features. The other 65 cases with atypical features were diagnosed as BOOP mainly based on OP by CT-guided lung biopsy. Among non-BOOP group, one was misdiagnosed as BOOP, and others were not BOOP according to clinical and radiographic findings. Thus, OP by CT-guided lung biopsy produced a diagnostic accuracy of 87.96% (95/108), much higher than 31.25% (30/96) observed using clinical and radiographic data alone. Combined, these techniques produced diagnostic accuracy of 98.96% (95/96). OP by CT-guided lung biopsy can be effectively used as the pathological evidence for BOOP diagnosis and reducing unnecessary surgery.

Lesion with morphologic feature of organizing pneumonia (OP) in CT-guided lung biopsy samples for diagnosis of bronchiolitis obliterans organizing pneumonia (BOOP): a retrospective study of 134 cases in a single center

PubMed Central

Wang, Yongsheng; Li, Yan; Ding, Jingjing; Chen, Lulu; Dai, Jinghong; Cai, Hourong; Xiao, Yonglong; Cao, Min; Huang, Mei; Qiu, Yuying; Meng, Fanqing; Fan, Xiangshan; Zhang, Deping

2014-01-01

Background Small biopsy samples are generally considered inconclusive for bronchiolitis obliterans organizing pneumonia (BOOP) diagnosis despite their potential to reveal organizing pneumonia (OP) pathologically, necessitating risky invasive tissue biopsy during surgery for reliable confirmation. Objective OP by CT-guided lung biopsy was to evaluate the role in the diagnosis of BOOP. Methods A retrospective review of 134 cases with the OP feature in the CT-guided lung biopsy samples between 2004 and 2011 at a single center was conducted. Diagnostic accuracy of OP by CT-guided lung biopsy and clinical-radiographic data alone were compared. Results After exclusion of 11 cases due to pathology with others besides OP and 15 cases for loss to follow-up, 108 were included. Of these, 95 cases and 13 cases were classified as BOOP and non-BOOP group, respectively. Among BOOP group, only 30 were initially diagnosed as BOOP according to the typical clinical and radiographic features. The other 65 cases with atypical features were diagnosed as BOOP mainly based on OP by CT-guided lung biopsy. Among non-BOOP group, one was misdiagnosed as BOOP, and others were not BOOP according to clinical and radiographic findings. Thus, OP by CT-guided lung biopsy produced a diagnostic accuracy of 87.96% (95/108), much higher than 31.25% (30/96) observed using clinical and radiographic data alone. Combined, these techniques produced diagnostic accuracy of 98.96% (95/96). Conclusions OP by CT-guided lung biopsy can be effectively used as the pathological evidence for BOOP diagnosis and reducing unnecessary surgery. PMID:25276367

Feature Extraction and Selection for Myoelectric Control Based on Wearable EMG Sensors.

PubMed

Phinyomark, Angkoon; N Khushaba, Rami; Scheme, Erik

2018-05-18

Specialized myoelectric sensors have been used in prosthetics for decades, but, with recent advancements in wearable sensors, wireless communication and embedded technologies, wearable electromyographic (EMG) armbands are now commercially available for the general public. Due to physical, processing, and cost constraints, however, these armbands typically sample EMG signals at a lower frequency (e.g., 200 Hz for the Myo armband) than their clinical counterparts. It remains unclear whether existing EMG feature extraction methods, which largely evolved based on EMG signals sampled at 1000 Hz or above, are still effective for use with these emerging lower-bandwidth systems. In this study, the effects of sampling rate (low: 200 Hz vs. high: 1000 Hz) on the classification of hand and finger movements were evaluated for twenty-six different individual features and eight sets of multiple features using a variety of datasets comprised of both able-bodied and amputee subjects. The results show that, on average, classification accuracies drop significantly ( p.

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

PubMed Central

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

2016-01-01

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

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

PubMed

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

2016-01-01

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

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

PubMed

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

2014-12-01

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

Scleredema Diabeticorum - A Case Report.

PubMed

Shazzad, M N; Azad, A K; Abdal, S J; Afrose, R; Rahman, M M; Haq, S A

2015-07-01

Buschke Scleredema is a rare connective tissue disorder of unknown aetiology and characterized by thickening of the dermis. It resembles systemic sclerosis, eosinophilic fasciitis and cutaneous amyloidosis. Scleredema may be associated with a history of an antecedent febrile illness, diabetes mellitus, or blood dyscrasia. It may be classified into three clinical groups, each has a different history, course, and prognosis. Histology of skin is characterized by thickened dermis and increased spaces between large collagen bundles due to increased deposition of mucopolysaccharide in the dermis. Differential diagnosis can be made considering the typical clinical features and the histological peculiarity. No therapy is effective. In this communication we have presented a 54 year old man with scleredema successfully treated by PUVA and methotrexate. We reviewed associated diseases, clinical and histopathological characteristics, evolution and response to treatment.

The use of mobile applications to support self-management for people with asthma: a systematic review of controlled studies to identify features associated with clinical effectiveness and adherence.

PubMed

Hui, Chi Yan; Walton, Robert; McKinstry, Brian; Jackson, Tracy; Parker, Richard; Pinnock, Hilary

2017-05-01

Telehealth is promoted as a strategy to support self-management of long-term conditions. The aim of this systematic review is to identify which information and communication technology features implemented in mobile apps to support asthma self-management are associated with adoption, adherence to usage, and clinical effectiveness. We systematically searched 9 databases, scanned reference lists, and undertook manual searches (January 2000 to April 2016). We include randomized controlled trials (RCTs) and quasiexperimental studies with adults. All eligible papers were assessed for quality, and we extracted data on the features included, health-related outcomes (asthma control, exacerbation rate), process/intermediate outcomes (adherence to monitoring or treatment, self-efficacy), and level of adoption of and adherence to use of technology. Meta-analysis and narrative synthesis were used. We included 12 RCTs employing a range of technologies. A meta-analysis (n = 3) showed improved asthma control (mean difference -0.25 [95% CI, -0.37 to -0.12]). Included studies incorporated 10 features grouped into 7 categories (education, monitoring/electronic diary, action plans, medication reminders/prompts, facilitating professional support, raising patient awareness of asthma control, and decision support for professionals). The most successful interventions included multiple features, but effects on health-related outcomes were inconsistent. No studies explicitly reported adoption of and adherence to the technology system. Meta-analysis of data from 3 trials showed improved asthma control, though overall the clinical effectiveness of apps, typically incorporating multiple features, varied. Further studies are needed to identify the features that are associated with adoption of and adherence to use of the mobile app and those that improve health outcomes. © The Author 2016. Published by Oxford University Press on behalf of the American Medical Informatics Association. All rights reserved. For Permissions, please email: journals.permissions@oup.com

Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism.

PubMed

Dragović, Tamara; Đuran, Zorana; Jelić, Svetlana; Marinković, Dejan; Kiković, Saša; Kuzmić-Janković, Snežana; Hajduković, Zoran

2016-10-01

Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH) secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.

Histological variability and the importance of clinicopathological correlation in cutaneous Rosai-Dorfman disease.

PubMed

Gameiro, Ana; Gouveia, Miguel; Cardoso, José Carlos; Tellechea, Oscar

2016-01-01

Rosai-Dorfman disease is a benign histiocytic proliferative disorder of unknown etiology. The disease mainly affects lymph node tissue, although it is rarely confined to the skin. Here, we describe a 53-year-old woman with purely cutaneous Rosai-Dorfman disease. The patient presented with a large pigmented plaque on her left leg, and sparse erythematous papules on her face and arms. A complete clinical response was achieved with thalidomide, followed by recurrence at the initial site one year later. The histological examination displayed the typical features of Rosai-Dorfman disease in the recent lesions but not in the older lesions. In the setting of no lymphadenopathy, the histopathological features of Rosai-Dorfman disease are commonly misinterpreted. Therefore, awareness of the histological aspects present at different stages, not always featuring the hallmark microscopic signs of Rosai-Dorfman disease, is particularly important for a correct diagnosis of this rare disorder.

'Athlete's heart' in prepubertal children.

PubMed

Rowland, T W; Delaney, B C; Siconolfi, S F

1987-05-01

Bradycardia, cardiomegaly, heart murmurs, and ECG changes are typically observed in adult endurance athletes, but frequency of such changes among children involved in sports training is unclear. Pediatricians need to be aware of whether these features of the "athlete's heart" occur in their patients, because such features may mimic those of cardiac disease. Fourteen prepubertal competitive male swimmers were evaluated by physical examination, ECG and echocardiogram, and findings were compared to those of a group of active but nontrained control boys. Lower resting heart rates and echocardiographic manifestations of chronic left ventricular volume overload were observed among the swimmers. These changes were not manifest on physical examination, however, and no significant ECG alterations were identified among the athletes. These findings indicate that, although features of the athlete's heart are present in children involved in endurance training, seldom will these findings simulate heart disease or be apparent on routine clinical examination.

Incisional Endometriosis: Diagnosed by Fine Needle Aspiration Cytology

PubMed Central

Veda, P; Srinivasaiah, M

2010-01-01

Incisional endometriosis (IE) is a rare entity reported in 0.03–1.08% of women following obstetric or gynecologic surgeries. Most cases reported in literature have appeared after cesarean sections and were often clinically mistaken for hernia, abscess, suture granuloma or lipoma. We hereby report a case of IE following a second trimester hysterotomy, which was diagnosed by fine needle aspiration cytology (FNAC). Our patient was 26 years old, presenting with a mass over anterior abdominal wall, associated with incapacitating pain during each menstrual cycle. FNAC showed epithelial cells, stromal cells and hemosiderin laden macrophages. Based on the typical history, clinical and cytological features, the diagnosis of IE was established. Wide surgical excision was done and the resulting rectus sheath defect was repaired. Patient was followed for 6 months during which time she was symptom free. This article also reviews the spectrum of cytological features and the rare possibility of malignant transformation that can occur in IE. PMID:21346911

Telangiectatic oncocytoma: a previously undescribed variant of renal oncocytoma.

PubMed

Xiao, Guang-Qian; Ko, Huai-Bin Mabel; Unger, Pamela

2013-07-01

To identify, describe, and investigate the clinical, radiologic, and pathologic features of 8 cases of telangiectatic oncocytoma. Fifty-three consecutive renal oncocytomas were reviewed for the telangiectatic pathologic features that were subsequently correlated with the demographic, clinical, and radiographic findings. Telangiectatic oncocytoma accounted for 15% of the 53 renal oncocytomas collected in the past 7 years in our institution. On radiology, almost all presented as an enhancing mass and were suspicious for or consistent with a renal malignant tumor. Grossly, the tumors ranged from 2.4 to 6.0 cm (mean, 3.5 cm) and macroscopically were hemorrhagic spongy or multicystic masses without a central stellate scar. Microscopically, they were characterized by variably sized blood-distended spaces (<0.1-mm to 2- to 3-mm blood lakes) lined by typical oncocytoma cells and without evidence of degenerative changes. With its unique radiologic and pathologic presentations in comparison with classic renal oncocytoma, it is important to recognize this new variant of renal oncocytoma.

High altitude pulmonary edema-clinical features, pathophysiology, prevention and treatment

PubMed Central

Paralikar, Swapnil J.

2012-01-01

High altitude pulmonary edema (HAPE) is a noncardiogenic pulmonary edema which typically occurs in lowlanders who ascend rapidly to altitudes greater than 2500-3000 m. Early symptoms of HAPE include a nonproductive cough, dyspnoea on exertion and reduced exercise performance. Later, dyspnoea occurs at rest. Clinical features are cyanosis, tachycardia, tachypnoea and elevated body temperature generally not exceeding 38.5°C. Rales are discrete initially and located over the middle lung fields. HAPE mainly occurs due to exaggerated hypoxic pulmonary vasoconstriction and elevated pulmonary artery pressure. It has been observed that HAPE is a high permeability type of edema occurring also due to leaks in the capillary wall (‘stress failure’). Slow descent is the most effective method for prevention; in addition, graded ascent and time for acclimatization, low sleeping altitudes, avoidance of alcohol and sleeping pills, and avoidance of exercise are the key to preventing HAPE. Treatment of HAPE consists of immediate improvement of oxygenation either by supplemental oxygen, hyperbaric treatment, or by rapid descent. PMID:23580834

[Post-polio syndrome. A case report].

PubMed

Bartman, Wojciech; Biernawska, Jolanta; ŁAbuz-Roszak, Beata; Kumor, Klaudiusz; Pierzchała, Krystyna

2004-01-01

Certain acute anterior poliomyelitis survivors express complaints of abnormal fatigue, weakness and muscular atrophy many years after acute onset. These are basic clinical symptoms of so-called post-polio syndrome (PPS). PPS is characterized by a relatively slow, but progressive pathological muscular process, in some cases leading to functional impairment of daily living and professional activity. Breathing, speaking and swallowing impairment are common but not severe medical problems of post-polio patients. Diagnosis is usually based on a typical medical history, electromyographic investigation and exclusion of other diseases presenting similar features. We report a case of PPS in a 49-year-old woman diagnosed in the Neurological Department in Zabrze. Thirty six years after acute anterior poliomyelitis with partial recovery, new symptoms of fatigue, muscular atrophy, exertional dyspnea, walking impairment and joint pain developed. Electromyography revealed features of coexisting spinal denervation and reinnervation in tested muscles. The differential diagnosis excluded other neuromuscular diseases. The patient fulfilled clinical and electromyographic criteria of PPS.

West syndrome in a patient with Schinzel-Giedion syndrome.

PubMed

Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

2015-06-01

Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed. © The Author(s) 2014.

Chorioretinitis: a potential clue to the early diagnosis of subacute sclerosing panencephalitis.

PubMed

Jeevagan, Vijayabala; Dissanayake, Athula

2017-08-01

We describe a 36-year-old man with subacute sclerosing panencephalitis (SSPE) presenting with chorioretinitis two years before onset of other neurological features. He had neither myoclonus nor the typical EEG features of SSPE. The diagnosis was confirmed in the appropriate clinical setting by detecting elevated measles antibody titres in cerebrospinal fluid and serum. Clinicians should consider SSPE among the differential diagnoses in chorioretinitis. This is particularly so if there is macular or perimacular involvement with concurrent involvement of the optic nerve in young patients, even without other characteristic neurological symptoms. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Hallerman-Streiff-like syndrome presenting with laterality and cardiac defects.

PubMed

Morice-Picard, Fanny; Marlin, Sandrine; Rooryck, Caroline; Fayon, Mickael; Thambo, Jeao-Benoît; Demarquez, Jean-Louis; Fauroux, Brigitte; Denoyelle, Francoise; Lacombe, Didier

2009-04-01

We report two patients considered to have an atypical presentation of Hallerman-Streiff syndrome (HSS) associated with laterality and cardiac defects. Clinical features include typical facial gestalt, atrophy of the skin, and hypotrichosis. Ophthalmologic abnormalities, normally present in HSS, are only found in one of the two patients. Both of them have respiratory problems secondary to the classical narrow upper airway described in this syndrome. Both these patients have laterality defects and one has additional structural cardiac malformations. Cardiac defects have occasionally been reported in the HSS literature, but are not considered as a classical feature of the syndrome. Situs inversus has never been reported in this syndrome. Almost all HSS cases have been sporadic and their origin and inheritance pattern remain unknown.

[Mixed depressions: clinical and neurophysiological biomarkers].

PubMed

Micoulaud Franchi, J-A; Geoffroy, P-A; Vion-Dury, J; Balzani, C; Belzeaux, R; Maurel, M; Cermolacce, M; Fakra, E; Azorin, J-M

2013-12-01

Epidemiological studies of major depressive episodes (MDE) highlighted the frequent association of symptoms or signs of mania or hypomania with depressive syndrome. Beyond the strict definition of DSM-IV, epidemiological recognition of a subset of MDE characterized by the presence of symptoms or signs of the opposite polarity is clinically important because it is associated with pejorative prognosis and therapeutic response compared to the subgroup of "typical MDE". The development of DSM-5 took into account the epidemiological data. DSM-5 opted for a more dimensional perspective in implementing the concept of "mixed features" from an "episode" to a "specification" of mood disorder. As outlined in the DSM-5: "Mixed features associated with a major depressive episode have been found to be a significant risk factor for the development of bipolar I and II disorder. As a result, it is clinically useful to note the presence of this specifier for treatment planning and monitoring of response to therapeutic". However, the mixed features are sometimes difficult to identify, and neurophysiological biomarkers would be useful to make a more specific diagnosis. Two neurophysiological models make it possible to better understand MDE with mixed features : i) the emotional regulation model that highlights a tendency to hyper-reactive and unstable emotion response, and ii) the vigilance regulation model that highlights, through EEG recording, a tendency to unstable vigilance. Further research is required to better understand relationships between these two models. These models provide the opportunity of a neurophysiological framework to better understand the mixed features associated with MDE and to identify potential neurophysiological biomarkers to guide therapeutic strategies. Copyright © 2013 L’Encéphale. Published by Elsevier Masson SAS.. All rights reserved.

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.

[Tiredness, hyperpigmentation, weight loss, nausea and vomiting. Polyglandular autoimmune syndrome (PAS) type 2].

PubMed

Locher, Rebecca; Kohler, S; Schwanda, S; Schmid, C

2010-10-06

In this patient with tiredness, hyperpigmentation, weight loss, nausea and vomiting, chronic primary adrenal insufficiency (M. Addison) was diagnosed based on the clinical features, the typical electrolyte abnormalities and the reduced morning cortisol together with increased adrenocorticotropic hormone. The detection of autoantibodies against adrenal tissue and 21-hydroxylase revealed an auto-immune adrenalitis as the cause. The additional primary hypothyroidism (with positive thyreoperoxidase-anti-bodies, anti-TPO-antibodies) and the coeliac disease argued for a polyglandular autoimmune syndrome type 2. Treatment with hydrocortisone and with mineralocorticoid and thyroxine later on showed a rapid improvement of clinical symptoms. In patients with Morbus Addison, a screening for associated endocrine disorders is warranted.

Severe hypertension and hypokalemia as first clinical manifestations in ectopic Cushing's syndrome.

PubMed

Fernández-Rodríguez, Eva; Villar-Taibo, Rocío; Pinal-Osorio, Iria; Cabezas-Agrícola, José Manuel; Anido-Herranz, Urbano; Prieto, Alma; Casanueva, Felipe F; Araujo-Vilar, David

2008-08-01

Ectopic ACTH production occurs in about 10% of all cases of Cushing's syndrome, and about 25% of cases of ACTH-dependent Cushing's syndrome. Diverse tumor types are able to produce ACTH ectopically, including small cell lung carcinoma. Ectopic ACTH secretion by malignant neoplasm has been reported to have earlier and more aggressive metabolic effects. We report a 59-year-old male patient with severe hypertension, metabolic alkalosis and hypokalemia as the first clinical manifestations of an ACTH-secreting small cell lung carcinoma, although the typical phenotypic features of Cushing's syndrome were not present. Ectopic Cushing's syndrome should always be ruled out in patients with severe hypertension and hypokalemia.

Assessment of Spectral-Domain Optical Coherence Tomography Findings in Three Cases of X-Linked Juvenile Retinoschisis in the Same Family.

PubMed

Doğuizi, Sibel; Şekeroğlu, Mehmet Ali; Çolak, Salih; Anayol, Mustafa Alpaslan; Yılmazbaş, Pelin

2017-10-01

X-linked juvenile retinoschisis (XLRS) is an X-linked hereditary retinal dystrophy characterized by splitting of the neurosensory retina. On fundus examination, the macula often has a spoke wheel appearance with foveal cystic lesions, and separation of the retinal layers is typical on spectral-domain optical coherence tomography (SD-OCT). Patients with XLRS can exhibit different clinical courses, stages, and SD-OCT findings, even among members of the same family. SD-OCT is an important imaging method that allows us to achieve more detailed information about XLRS. In this study, we report three patients in the same family who have different clinical features and SD-OCT findings.

[Importance of the hyperuricaemia, gout and gender nosological features in the activity of general practitioner - family doctor].

PubMed

Rudichenko, V M

2012-01-01

In this article there were analyzed gender data about features of hyperuricaemia and gout: women are much older at the onset of gout arthritis (one of main reasons, probably, makes menopause by itself), have more associated comorbid deseases as hypertension and kidney failure and drinks less alcoholic beverages. It was noticed, that typical localisation of the lesion on the first toe is less often in women, and women are more inclined to use diuretics among medical drugs. Abovementioned clinical features are of some importance for the broad activity of general practitioners - family doctors. Gender features of polyarthicular gout are not uniformed. Scientific researches confirmed possibility of the genetic basis of the uric acid metabolism, which influences some fenotypical features of the organism. Several genes are known for their influence on serum uric acid: PDZK1, GCKR, SLC2A9, ABCG2, LRRC16A, SLC17A3, SLC16A9 and SLC22A12. However, conclusions of the research works confirm the necessity of scientific clarification of the importance of different factors of gender differences.

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

PubMed

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

2014-08-01

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

Variable Use of Features Associated with African American English by Typically Developing Children

ERIC Educational Resources Information Center

Jackson, Janice E.; Pearson, Barbara Zurer

2010-01-01

Purpose: The well-known decline in the use of African American English (AAE) features by groups of school-aged AAE-speaking children was reexamined for patterns of overt-, zero-, and mixed-marking for individual features and individual speakers. Methods: Seven hundred twenty-nine typically developing children between the ages of 4 and 12--511…

Lateral epicondylitis and beyond: imaging of lateral elbow pain with clinical-radiologic correlation.

PubMed

Kotnis, Nikhil A; Chiavaras, Mary M; Harish, Srinivasan

2012-04-01

The diagnosis of lateral epicondylitis is often straightforward and can be made on the basis of clinical findings. However, radiological assessment is valuable where the clinical picture is less clear or where symptoms are refractory to treatment. Demographics, aspects of clinical history, or certain physical signs may suggest an alternate diagnosis. Knowledge of the typical clinical presentation and imaging findings of lateral epicondylitis, in addition to other potential causes of lateral elbow pain, is necessary. These include entrapment of the posterior interosseous and lateral antebrachial cutaneous nerves, posterolateral rotatory instability, posterolateral plica syndrome, Panner's disease, osteochondritis dissecans of the capitellum, radiocapitellar overload syndrome, occult fractures and chondral-osseous impaction injuries, and radiocapitellar arthritis. Knowledge of these potential masquerades of lateral epicondylitis and their characteristic clinical and imaging features is essential for accurate diagnosis. The goal of this review is to provide an approach to the imaging of lateral elbow pain, discussing the relevant anatomy, various causes, and discriminating factors, which will allow for an accurate diagnosis.

Tics as an initial manifestation of juvenile Huntington's disease: case report and literature review.

PubMed

Cui, Shi-Shuang; Ren, Ru-Jing; Wang, Ying; Wang, Gang; Chen, Sheng-Di

2017-08-08

Huntington's disease (HD) is an autosomal dominant disorder, typically characterized by chorea due to a trinucleotide repeat expansion in the HTT gene, although the clinical manifestations of patients with juvenile HD (JHD) are atypical. A 17-year-old boy with initial presentation of tics attended our clinic and his DNA analysis demonstrated mutation in the HTT gene (49 CAG repeats). After treatment, his symptoms improved. Furthermore, we performed literature review through searching the databases and summarized clinical features in 33 JHD patients. The most prevalent symptoms are ataxia, and two cases reported that tics as initial and prominent manifestation in JHD. Among them, 88% patients carried CAG repeats beyond 60 and most of them have family history. This case here illustrates the variable range of clinical symptoms of JHD and the necessity of testing for the HD mutation in young patients with tics with symptoms unable to be explained by Tourette's syndrome (TS).

Modified Ride-on Toy Cars for Early Power Mobility: A Technical Report

PubMed Central

Huang, Hsiang-han; Galloway, James C

2012-01-01

Background and Purpose Children with significantly decreased mobility have limited opportunities to explore their physical and social environment. A variety of assistive technologies are available to increase mobility, however no single device provides the level of functional mobility that typically developing children enjoy. The purpose of this technical report is to formally introduce a new power mobility option - the modified ride-on toy car. Key Points This report will provide a) an overview of toy car features, b) examples of basic electrical and mechanical modifications and c) a brief clinical case. Clinical Implications With creative use and customized modifications, toy cars function as a “general learning environment” for use in the clinic, home and school. As such, we anticipate that these cars will become a multi-use clinical tool to address not only mobility goals but also goals involving body function and structure such as posture and movement impairments. PMID:22466382

Perception and Processing of Faces in the Human Brain Is Tuned to Typical Feature Locations

PubMed Central

Schwarzkopf, D. Samuel; Alvarez, Ivan; Lawson, Rebecca P.; Henriksson, Linda; Kriegeskorte, Nikolaus; Rees, Geraint

2016-01-01

Faces are salient social stimuli whose features attract a stereotypical pattern of fixations. The implications of this gaze behavior for perception and brain activity are largely unknown. Here, we characterize and quantify a retinotopic bias implied by typical gaze behavior toward faces, which leads to eyes and mouth appearing most often in the upper and lower visual field, respectively. We found that the adult human visual system is tuned to these contingencies. In two recognition experiments, recognition performance for isolated face parts was better when they were presented at typical, rather than reversed, visual field locations. The recognition cost of reversed locations was equal to ∼60% of that for whole face inversion in the same sample. Similarly, an fMRI experiment showed that patterns of activity evoked by eye and mouth stimuli in the right inferior occipital gyrus could be separated with significantly higher accuracy when these features were presented at typical, rather than reversed, visual field locations. Our findings demonstrate that human face perception is determined not only by the local position of features within a face context, but by whether features appear at the typical retinotopic location given normal gaze behavior. Such location sensitivity may reflect fine-tuning of category-specific visual processing to retinal input statistics. Our findings further suggest that retinotopic heterogeneity might play a role for face inversion effects and for the understanding of conditions affecting gaze behavior toward faces, such as autism spectrum disorders and congenital prosopagnosia. SIGNIFICANCE STATEMENT Faces attract our attention and trigger stereotypical patterns of visual fixations, concentrating on inner features, like eyes and mouth. Here we show that the visual system represents face features better when they are shown at retinal positions where they typically fall during natural vision. When facial features were shown at typical (rather than reversed) visual field locations, they were discriminated better by humans and could be decoded with higher accuracy from brain activity patterns in the right occipital face area. This suggests that brain representations of face features do not cover the visual field uniformly. It may help us understand the well-known face-inversion effect and conditions affecting gaze behavior toward faces, such as prosopagnosia and autism spectrum disorders. PMID:27605606

Nonepileptic Seizures: An Updated Review

PubMed Central

Perez, David L.; LaFrance, W. Curt

2016-01-01

Psychogenic nonepileptic seizures are a Functional Neurological Disorder/ Conversion Disorder subtype, which are neurobehavioral conditions at the interface of Neurology and Psychiatry. Significant advancements over the past decade have been made in the diagnosis, management and neurobiological understanding of PNES. This article reviews published PNES research focusing on semiologic features that distinguish PNES from epileptic seizures, consensus diagnostic criteria, the intersection of PNES and other comorbidities, neurobiological studies, evidence-based treatment interventions and outcome studies. Epidemiology and health care utilization studies highlight a continued unmet medical need in the comprehensive care of PNES. Consensus guidelines for diagnostic certainty are based on clinical history, semiology of witnessed typical event(s), and EEG findings. While certain semiologic features may aid the diagnosis of PNES, the gold standard remains capturing a typical event on video electroencephalography (EEG) showing the absence of epileptiform activity with history and semiology consistent with PNES. Medical-neurologic and psychiatric comorbidities are prevalent in PNES and should be assessed in diagnostic evaluations, and integrated into treatment interventions and prognostic considerations. Several studies, including a pilot multicenter, randomized clinical trial, have now demonstrated that a cognitive behavioral therapy informed psychotherapy is an efficacious treatment for PNES, and additional efforts are necessary to evaluate the utility of pharmacologic and other psychotherapy treatments. Neuroimaging studies, while requiring replication, suggest that PNES may occur in the context of alterations within and across sensorimotor, emotion regulation/processing, cognitive control and multimodal integration brain systems. Future research could investigate similarities and differences between PNES and other somatic symptom disorders. PMID:26996600

Epidermal growth factor receptor expression in different subtypes of oral lichenoid disease.

PubMed

Cortés-Ramírez, Dionisio-Alejandro; Rodríguez-Tojo, María-Jose; Coca-Meneses, Juan-Carlos; Marichalar-Mendia, Xabier; Aguirre-Urizar, José-Manuel

2014-09-01

The oral lichenoid disease (OLD) includes different chronic inflammatory processes such as oral lichen planus (OLP) and oral lichenoid lesions (OLL), both entities with controversial diagnosis and malignant potential. Epidermal growth factor receptor (EFGR) is an important oral carcinogenesis biomarker and overexpressed in several oral potentially malignant disorders. To analyze the EGFR expression in the OLD to find differences between OLP and OLL, and to correlate it with the main clinical and pathological features. Forty-four OLD cases were studied and classified according to their clinical (Group C1: only papular lesions / Group C2: papular and other lesions) and histopathological features (Group HT: OLP-typical / Group HC: OLP-compatible) based in previous published criteria. Standard immunohistochemical identification of EGFR protein was performed. Comparative and descriptive statistical analyses were performed. Thirty-five cases (79.5%) showed EGFR overexpression without significant differences between clinical and histopathological groups (p<0.05). Histological groups showed significant differences in the EGFR expression pattern (p=0.016). Conlusions: All OLD samples showed high EGFR expression. The type of clinical lesion was not related with EGFR expression; however, there are differences in the EGFR expression pattern between histological groups that may be related with a different biological profile and malignant risk.

Combined Socio-Behavioral Evaluation Improves the Differential Diagnosis Between the Behavioral Variant of Frontotemporal Dementia and Alzheimer's Disease: In Search of Neuropsychological Markers.

PubMed

Dodich, Alessandra; Cerami, Chiara; Cappa, Stefano F; Marcone, Alessandra; Golzi, Valeria; Zamboni, Michele; Giusti, Maria Cristina; Iannaccone, Sandro

2018-01-01

Current diagnostic criteria for behavioral variant of frontotemporal dementia (bvFTD) and typical Alzheimer's disease (AD) include a differential pattern of neuropsychological impairments (episodic memory deficit in typical AD and dysexecutive syndrome in bvFTD). There is, however, large evidence of a frequent overlap in neuropsychological features, making the differential diagnosis extremely difficult. In this retrospective study, we evaluated the diagnostic value of different cognitive and neurobehavioral markers in bvFTD and AD patient groups. We included 95 dementia patients with a clinical and biomarker evidence of bvFTD (n = 48) or typical AD (n = 47) pathology. A clinical 2-year follow-up confirmed clinical classification. Performances at basic cognitive tasks (memory, executive functions, visuo-spatial, language) as well as social cognition skills and neurobehavioral profiles have been recorded. A stepwise logistic regression model compared the neuropsychological profiles between groups and assessed the accuracy of cognitive and neurobehavioral markers in discriminating bvFTD from AD. Statistical comparison between patient groups proved social cognition and episodic memory impairments as main cognitive signatures of bvFTD and AD neuropsychological profiles, respectively. Only half of bvFTD patients showed attentive/executive deficits, questioning their role as cognitive marker of bvFTD. Notably, the large majority of bvFTD sample (i.e., 70%) poorly performed at delayed recall tasks. Logistic regression analysis identified social cognition performances, Frontal Behavioral Inventory and Mini-Mental State Examination scores as the best combination in distinguishing bvFTD from AD. Social cognition tasks and socio-behavioral questionnaires are recommended in clinical settings to improve the accuracy of early diagnosis of bvFTD.

Autoimmune Subepidermal Bullous Diseases of the Skin and Mucosae: Clinical Features, Diagnosis, and Management.

PubMed

Amber, Kyle T; Murrell, Dedee F; Schmidt, Enno; Joly, Pascal; Borradori, Luca

2018-02-01

Autoimmune subepidermal blistering diseases of the skin and mucosae constitute a large group of sometimes devastating diseases, encompassing bullous pemphigoid, gestational pemphigoid, mucous membrane pemphigoid, epidermolysis bullosa acquisita, and anti-p200 pemphigoid. Their clinical presentation is polymorphic. These autoimmune blistering diseases are associated with autoantibodies that target distinct components of the basement membrane zone of stratified epithelia. These autoantigens represent structural proteins important for maintenance of dermo-epidermal integrity. Bullous pemphigoid (BP) is the most common subepidermal autoimmune blistering disease of the skin and mucosae. Although the disease typically presents with a generalized blistering eruption associated with itch, atypical variants with either localized bullous lesions or "non-bullous" presentations are observed in approximately 20% of patients. A peculiar form of BP typically associated with pregnancy is pemphigoid gestationis. In anti-p200 pemphigoid, patients present with tense blisters on erythematosus or normal skin resembling BP, with a predilection for acral surfaces. These patients have antibodies targeting the 200-kDa basement membrane protein. Epidermolysis bullosa is a rare autoimmune blistering disease associated with autoantibodies against type VII collagen that can have several phenotypes including a classical form mimicking dystrophic epidermolysis bullosa, an inflammatory presentation mimicking BP, or mucous membrane pemphigoid-like lesions. Mucous membrane pemphigoid (MMP) is the term agreed upon by international consensus for an autoimmune blistering disorder, which affects one or more mucous membrane and may involve the skin. The condition involves a number of different autoantigens in the basement membrane zone. It may result in severe complications from scarring, such as blindness and strictures. Diagnosis of these diseases relies on direct immunofluorescence microscopy studies and immunoserological assays. Management of affected patients is often challenging. We will here review the clinical and immunopathological features as well as the pathophysiology of this group of organ-specific autoimmune diseases. Finally, we will discuss the diagnostic approach and the principles of management in clinical practice.

A pathophysiologic approach for subacute encephalopathy with seizures in alcoholics (SESA) syndrome.

PubMed

Choi, Jun Yong; Kwon, Jiwon; Bae, Eun-Kee

2014-09-01

Subacute encephalopathy with seizures in alcoholics (SESA) syndrome is a unique disease entity characterized by typical clinical and electroencephalographic (EEG) features in the setting of chronic alcoholism. We present two patients with distinctive serial MRI and EEG findings which suggest a clue to the underlying pathophysiologic mechanisms of SESA syndrome. Two patients with chronic alcoholism and alcoholic liver cirrhosis presented with generalized seizures and confused mental status. Brain MRI demonstrated restricted diffusion, increased T2-weighted signal intensity, and hyperperfusion in the presumed seizure focus and nearby posterior regions of the cerebral hemispheres. EEG showed periodic lateralized epileptiform discharges which were prominent in the posterior regions of the cerebral hemispheres ipsilateral to the side of brain MRI abnormalities. Even after patients clinically improved, these brain abnormalities persisted with progressive atrophic changes on follow-up brain MRI. These patients had not only the distinguishing clinical and EEG features of SESA syndrome, but also showed novel brain MRI abnormalities. These changes on MRI displayed characteristics of seizure-related changes. The posterior dominance of abnormalities on MRI and EEG suggests that the pathophysiologic mechanisms of SESA syndrome may share those of posterior reversible encephalopathy syndrome. Copyright © 2014 Elsevier Ltd. All rights reserved.

Clinical characterization of autoimmune encephalitis and psychosis.

PubMed

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

2017-04-01

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

Phenomenology and classification of dystonia: a consensus update.

PubMed

Albanese, Alberto; Bhatia, Kailash; Bressman, Susan B; Delong, Mahlon R; Fahn, Stanley; Fung, Victor S C; Hallett, Mark; Jankovic, Joseph; Jinnah, Hyder A; Klein, Christine; Lang, Anthony E; Mink, Jonathan W; Teller, Jan K

2013-06-15

This report describes the consensus outcome of an international panel consisting of investigators with years of experience in this field that reviewed the definition and classification of dystonia. Agreement was obtained based on a consensus development methodology during 3 in-person meetings and manuscript review by mail. Dystonia is defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting, and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation. Dystonia is classified along 2 axes: clinical characteristics, including age at onset, body distribution, temporal pattern and associated features (additional movement disorders or neurological features); and etiology, which includes nervous system pathology and inheritance. The clinical characteristics fall into several specific dystonia syndromes that help to guide diagnosis and treatment. We provide here a new general definition of dystonia and propose a new classification. We encourage clinicians and researchers to use these innovative definition and classification and test them in the clinical setting on a variety of patients with dystonia. © 2013 Movement Disorder Society. © 2013 Movement Disorder Society.

Clinical significance of specific autoantibodies in juvenile dermatomyositis.

PubMed

Feldman, B M; Reichlin, M; Laxer, R M; Targoff, I N; Stein, L D; Silverman, E D

1996-10-01

To determine the prevalence and clinical association of myositis specific antibodies in an unselected group of patients with juvenile dermatomyositis (DM). The sera of 42 subjects, representing an unselected group of patients from a single center, with juvenile DM and 7 others with idiopathic inflammatory myopathy (IIM) were examined for the presence of myositis specific antibodies by immunodiffusion against calf thymus extract and immunoprecipitation with HeLa extract. Of the subjects with juvenile DM, only 2 had evidence of antibodies specific to myositis (anti-Mi2). Three other patients with juvenile DM had defined autoantibodies not usually considered to be specific to myositis. Two of the 3 subjects had anti-PM-Scl; both developed features of scleroderma after the juvenile DM remitted. The 5 subjects with defined autoantibodies did not differ clinically from the remainder of the subjects with the exception of the late development of scleroderma features in 2. Fourteen other subjects with juvenile DM had unidentified bands on immunoprecipitation, which may represent as yet undiscovered myositis specific antibodies. No myositis specific antibodies were detected in any of the 7 subjects with other IIM syndromes. Based on our findings, we do not recommend routine clinical testing for these antibodies in children with typical juvenile DM. Further study of the unidentified bands seen in our subjects may lead to better understanding of the clinical groupings and etiopathogenesis of childhood myositis.

Toxic Encephalopathy

PubMed Central

Kim, Jae Woo

2012-01-01

This article schematically reviews the clinical features, diagnostic approaches to, and toxicological implications of toxic encephalopathy. The review will focus on the most significant occupational causes of toxic encephalopathy. Chronic toxic encephalopathy, cerebellar syndrome, parkinsonism, and vascular encephalopathy are commonly encountered clinical syndromes of toxic encephalopathy. Few neurotoxins cause patients to present with pathognomonic neurological syndromes. The symptoms and signs of toxic encephalopathy may be mimicked by many psychiatric, metabolic, inflammatory, neoplastic, and degenerative diseases of the nervous system. Thus, the importance of good history-taking that considers exposure and a comprehensive neurological examination cannot be overemphasized in the diagnosis of toxic encephalopathy. Neuropsychological testing and neuroimaging typically play ancillary roles. The recognition of toxic encephalopathy is important because the correct diagnosis of occupational disease can prevent others (e.g., workers at the same worksite) from further harm by reducing their exposure to the toxin, and also often provides some indication of prognosis. Physicians must therefore be aware of the typical signs and symptoms of toxic encephalopathy, and close collaborations between neurologists and occupational physicians are needed to determine whether neurological disorders are related to occupational neurotoxin exposure. PMID:23251840

Clinical forms of actinic keratosis and levels of dysplasia of the epidermis.

PubMed

Oshyvalova, Olena O; Kaliuzhna, Lydia D; Kropelnytskyi, Vladislav O

Introduction: Actinic keratosis (AK) is precancerous skin lesion that occurs in the sun-exposedskin areas characterized by local intraepidermal dysplasia of different severity (KIN I, KIN II and KIN III). The aim of this research was to study distribution patterns and morphological features of AK histological types. Materials and Methods: The study included skin biopsy material from 68 patients with different clinical forms of AK. The diagnosis of AK was histologically confirmed in 100% of cases. Results: There were 63.21% of men and 36.8% of women among all patients with AK. The average age of patients was 73.3 ± 8.3.The most common clinico-histological forms of actinic keratosis were typical (41.2%), hypertrophic (16.2%), atrophic (14.7%) and pigmentary (11.7%), bowenoid (8.8%), acantholytic (7.4%). Among the rate of epidermal dysplasia there diagnosed cases of KIN І (50%), KIN ІІ (36.8%) and KIN III (13.2%). Conclusions: It was found a direct correlation between KIN I and typical and pigment forms of AK, KIN II and hypertrophic and bowenoid forms of AK.

Sleep Disorders Associated With Alzheimer's Disease: A Perspective

PubMed Central

Brzecka, Anna; Leszek, Jerzy; Ashraf, Ghulam Md; Ejma, Maria; Ávila-Rodriguez, Marco F.; Yarla, Nagendra S.; Tarasov, Vadim V.; Chubarev, Vladimir N.; Samsonova, Anna N.; Barreto, George E.; Aliev, Gjumrakch

2018-01-01

Sleep disturbances, as well as sleep-wake rhythm disturbances, are typical symptoms of Alzheimer's disease (AD) that may precede the other clinical signs of this neurodegenerative disease. Here, we describe clinical features of sleep disorders in AD and the relation between sleep disorders and both cognitive impairment and poor prognosis of the disease. There are difficulties of the diagnosis of sleep disorders based on sleep questionnaires, polysomnography or actigraphy in the AD patients. Typical disturbances of the neurophysiological sleep architecture in the course of the AD include deep sleep and paradoxical sleep deprivation. Among sleep disorders occurring in patients with AD, the most frequent disorders are sleep breathing disorders and restless legs syndrome. Sleep disorders may influence circadian fluctuations of the concentrations of amyloid-β in the interstitial brain fluid and in the cerebrovascular fluid related to the glymphatic brain system and production of the amyloid-β. There is accumulating evidence suggesting that disordered sleep contributes to cognitive decline and the development of AD pathology. In this mini-review, we highlight and discuss the association between sleep disorders and AD. PMID:29904334

[Usher syndrome: clinical features, diagnostic options, and therapeutic prospects].

PubMed

Seeliger, M W; Fischer, M D; Pfister, M

2009-06-01

Usher syndrome denotes a clinically and genetically heterogeneous combination of retinitis pigmentosa and sensorineural deafness. The division into subtypes I, II, and III is based on the degree of hearing loss: Type I is characterized by deafness from birth together with ataxia and retarded motor development, type II by a stationary deafness of a moderate degree, and type III by a progressive deafness with adult onset. In Germany, Usher syndrome currently bears particular relevance because in January 2009 a new compulsory screening of auditory function in newborn infants was introduced. Consequently, it can be expected that a higher number of patients with Usher syndrome will be identified in early childhood and referred to ophthalmologists. The focus of this work is to introduce the typical clinical picture of Usher syndrome, summarize diagnostic options, and give an overview of therapeutic strategies.

Yoga for Youth in Pain

PubMed Central

Evans, Subhadra; Moieni, Mona; Sternlieb, Beth; Tsao, Jennie C.I; Zeltzer, Lonnie K.

2012-01-01

Children, adolescents, and young adults do not typically feature in clinics, studies, and mainstream notions of chronic pain. Yet many young people experience debilitating pain for extended periods of time. Chronic pain in these formative years may be especially important to treat in order for young patients to maintain life tasks and to prevent protracted disability. The Pediatric Pain Program at the University of California, Los Angeles, is a multidisciplinary treatment program designed for young people with chronic pain and their families. We offer both conventional and complementary medicine to treat the whole individual. This article describes the work undertaken in the clinic and our newly developed Yoga for Youth Research Program. The clinical and research programs fill a critical need to provide service to youth with chronic pain and to scientifically study one of the more popular complementary treatments we offer, Iyengar yoga. PMID:22864296

Aphasic variant of Alzheimer disease: Clinical, anatomic, and genetic features.

PubMed

Rogalski, Emily; Sridhar, Jaiashre; Rader, Benjamin; Martersteck, Adam; Chen, Kewei; Cobia, Derin; Thompson, Cynthia K; Weintraub, Sandra; Bigio, Eileen H; Mesulam, M-Marsel

2016-09-27

To identify features of primary progressive aphasia (PPA) associated with Alzheimer disease (AD) neuropathology. A related objective was to determine whether logopenic PPA is a clinical marker for AD. A total of 139 prospectively enrolled participants with a root diagnosis of PPA constituted the reference set. Those with autopsy or biomarker evidence of AD, and who had been evaluated at mild disease stages (Aphasia Quotient ≥85), were included (n = 19). All had quantitative language testing and APOE genotyping. Fifteen had MRI morphometry. Impaired word-finding was the universal presenting complaint in the aphasic AD group. PPA clinical subtype was logopenic (n = 13) and agrammatic (n = 6). Fluency, repetition, naming, and grammaticality ranged from preserved to severely impaired. All had relative preservation of word comprehension. Eight of the 15 aphasic participants with AD showed no appreciable cortical atrophy at the individual level on MRI. As a group, atrophy was asymmetrically concentrated in the left perisylvian cortex. APOE ε4 frequency was not elevated. There is a close, but not obligatory, association between logopenic PPA and AD. No language measure, with the possible exception of word comprehension, can confirm or exclude AD in PPA. Biomarkers are therefore essential for diagnosis. Asymmetry of cortical atrophy and normal APOE ε4 prevalence constitute deviations from typical AD. These and additional neuropathologic features suggest that AD has biological subtypes, one of which causes PPA. Better appreciation of this fact should promote the inclusion of individuals with PPA and positive AD biomarkers into relevant clinical trials. © 2016 American Academy of Neurology.

Primary perivascular epithelioid cell tumor of the liver: new case report and literature review

PubMed Central

2014-01-01

Perivascular epithelioid cell tumors (PEComas) encompass a group of rare mesenchymal neoplasms, which typically have a perivascular location with dual melanocytic and muscular differentiation. They are found in a variety of localizations, though lesions in the liver are exceedingly rare. Because of their rarity, the clinical, radiological and histological features of these tumors have yet to be established. This is why, it seems appropriate to report the observation of this rare hepatic tumor with a literary review including others published cases, assessing through it, clinicopathologic and radiologic features of all reported cases as well as their follow-up whenever possible. Virtual Slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1967094999126169 PMID:25034830

Clinical Geneticists’ Views of VACTERL/VATER Association

PubMed Central

Solomon, Benjamin D.; Bear, Kelly A.; Kimonis, Virginia; de Klein, Annelies; Scott, Daryl A.; Shaw-Smith, Charles; Tibboel, Dick; Reutter, Heiko; Giampietro, Philip F.

2012-01-01

VACTERL association (sometimes termed “VATER association” depending on which component features are included) is typically defined by the presence of at least three of the following congenital malformations, which tend to statistically co-occur in affected individuals: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. Although the clinical criteria for VACTERL association may appear to be straightforward, there is wide variability in the way clinical geneticists define the disorder and the genetic testing strategy they use when confronted with an affected patient. In order to describe this variability and determine the most commonly used definitions and testing modalities, we present the results of survey responses by 121 clinical geneticists. We discuss the results of the survey responses, provide a literature review and commentary from a group of physicians who are currently involved in clinical and laboratory-based research on VACTERL association, and offer an algorithm for genetic testing in patients with this association. PMID:23165726

Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue with amyloid deposition: a clinicopathologic case series.

PubMed

Ryan, Russell J H; Sloan, J Mark; Collins, A Bernard; Mansouri, Jaleh; Raje, Noopur S; Zukerberg, Lawrence R; Ferry, Judith A

2012-01-01

Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT) lymphoma is a mature B-cell neoplasm that typically follows an indolent clinical course. Amyloid deposition associated with MALT lymphoma is uncommon. We describe the clinical and pathologic features of 20 cases of MALT lymphoma and associated amyloid deposition across diverse primary sites. Frozen section immunofluorescence performed on 4 cases suggests that these deposits are a localized form of AL amyloid. Clinical follow-up was available for 15 patients. Amyloid deposits distant from the initial site occurred in 5 cases, always at sites also involved by the underlying lymphoma. No definitive evidence of systemic amyloidosis affecting the heart, kidneys, or liver was present in any patient. Given the generally indolent clinical behavior of MALT lymphomas with associated amyloid, we do not recommend extensive follow-up testing for systemic amyloidosis or more aggressive therapy than would be indicated for other MALT lymphomas of similar clinical stage.

Achondroplasia and Macular Coloboma.

PubMed

Ahoor, M H; Amizadeh, Y; Sorkhabi, R

2015-01-01

Achondroplasia is an autosomal dominant congenital disorder of enchondral ossification. It is clinically characterized by low stature, craniofacial deformity, and vertebral malformation. Associated ophthalmic features include telecanthus, exotropia, angle anomalies, and cone-rod dystrophy. A 24-year-old male presented with decreased vision bilaterally and typical achondroplasia. The best corrected visual acuity was 20/70 in both eyes. Anterior segment examination was normal. Fundus examination revealed a well-demarcated circular paramacular lesion in both eyes. As macular coloboma and achondroplasia are developmental disorders, the funduscopic examination is required in patients with achondroplasia.

Achondroplasia and Macular Coloboma

PubMed Central

Ahoor, M. H.; Amizadeh, Y.; Sorkhabi, R.

2015-01-01

Achondroplasia is an autosomal dominant congenital disorder of enchondral ossification. It is clinically characterized by low stature, craniofacial deformity, and vertebral malformation. Associated ophthalmic features include telecanthus, exotropia, angle anomalies, and cone-rod dystrophy. A 24-year-old male presented with decreased vision bilaterally and typical achondroplasia. The best corrected visual acuity was 20/70 in both eyes. Anterior segment examination was normal. Fundus examination revealed a well-demarcated circular paramacular lesion in both eyes. As macular coloboma and achondroplasia are developmental disorders, the funduscopic examination is required in patients with achondroplasia. PMID:26692730

Breed-Specific Magnetic Resonance Imaging Characteristics of Necrotizing Encephalitis in Dogs

PubMed Central

Flegel, Thomas

2017-01-01

Diagnosing necrotizing encephalitis, with its subcategories of necrotizing leukoencephalitis and necrotizing meningoencephalitis, based on magnetic resonance imaging alone can be challenging. However, there are breed-specific imaging characteristics in both subcategories that allow establishing a clinical diagnosis with a relatively high degree of certainty. Typical breed specific imaging features, such as lesion distribution, signal intensity, contrast enhancement, and gross changes of brain structure (midline shift, ventriculomegaly, and brain herniation) are summarized here, using current literature, for the most commonly affected canine breeds: Yorkshire Terrier, French Bulldog, Pug, and Chihuahua. PMID:29255715

Something fishy: six patients with an unusual cause of food poisoning!

PubMed

Hall, Michael

2003-06-01

Scombroid fish poisoning is a clinical syndrome attributed to the ingestion of contaminated fish. A toxin or toxins, known as scombrotoxin, result from decomposition by endogenous flora of the amino acid histidine liberating bioactive amines, predominantly histamine. The presentation has features of histamine toxicity, typically with urticaria, flushing, headache, abdominal cramps, diarrhoea and vomiting. The course is usually mild and self-limiting. The author describes six cases of scombroid poisoning after ingestion of fish from the same Canberra restaurant. One case resulted in significant hypotension necessitating a prolonged stay in the ED.

[Risk groups as related to gastric cancer].

PubMed

Vartan'ian, M G; Zhandarova, L F; Korzhenskiĭ, F P

1979-01-01

Under examination were the features of life, labour, habits, inheritance pattern, a type of diet, the course of the disease in 440 gastric cancer patients. The most typical and frequently observed factors were singled out. The material obtained was processed by an electronic computer. The informative value of the risk factors was checked by selection, using questionnaires of patients irrespective of the reason of their referring to the clinic. The age of patients over 40 and the character of work should become the basic indication for limiting the number of persons subject to a gastrological examination.

Psychosomatic aspects of end-stage renal failure.

PubMed

Sensky, T

1993-01-01

End-stage renal failure (ESRD) is more than a typical chronic disease. Its treatment includes features which arguably make this condition unique. Selected psychosomatic aspects of ESRD are reviewed, including psychiatric morbidity, patients' adherence to their treatments, quality of life and the emotional impact on staff involved in treating patients with ESRD. Rather than presenting a comprehensive review of the results of published research, particular emphasis is laid on the critical appraisal of the methodology of published studies, to examine the extent to which these have provided answers to clinically important questions.

The effect of SUV discretization in quantitative FDG-PET Radiomics: the need for standardized methodology in tumor texture analysis

NASA Astrophysics Data System (ADS)

Leijenaar, Ralph T. H.; Nalbantov, Georgi; Carvalho, Sara; van Elmpt, Wouter J. C.; Troost, Esther G. C.; Boellaard, Ronald; Aerts, Hugo J. W. L.; Gillies, Robert J.; Lambin, Philippe

2015-08-01

FDG-PET-derived textural features describing intra-tumor heterogeneity are increasingly investigated as imaging biomarkers. As part of the process of quantifying heterogeneity, image intensities (SUVs) are typically resampled into a reduced number of discrete bins. We focused on the implications of the manner in which this discretization is implemented. Two methods were evaluated: (1) RD, dividing the SUV range into D equally spaced bins, where the intensity resolution (i.e. bin size) varies per image; and (2) RB, maintaining a constant intensity resolution B. Clinical feasibility was assessed on 35 lung cancer patients, imaged before and in the second week of radiotherapy. Forty-four textural features were determined for different D and B for both imaging time points. Feature values depended on the intensity resolution and out of both assessed methods, RB was shown to allow for a meaningful inter- and intra-patient comparison of feature values. Overall, patients ranked differently according to feature values-which was used as a surrogate for textural feature interpretation-between both discretization methods. Our study shows that the manner of SUV discretization has a crucial effect on the resulting textural features and the interpretation thereof, emphasizing the importance of standardized methodology in tumor texture analysis.

Protein contact dermatitis: allergens, pathogenesis, and management.

PubMed

Levin, Cheryl; Warshaw, Erin

2008-01-01

Protein contact dermatitis is an allergic skin reaction induced principally by proteins of either animal or plant origin. The clinical presentation is that of a chronic dermatitis, and it is often difficult to differentiate between allergic contact dermatitis and other eczematous dermatoses. One distinguishing clinical feature is that acute flares of pruritus, urticaria, edema, or vesiculation are noted minutes after contact with the causative substances. Additionally, the patch-test result is typically negative, and the scratch- or prick-test result is positive. The pathogenesis of protein contact dermatitis is unclear but may involve a type I (immunoglobulin E [IgE], immediate) hypersensitivity reaction, type IV (cell-mediated delayed) hypersensitivity reaction, and/or a delayed reaction due to IgE-bearing Langerhans' cells. Management involves avoidance of the allergen.

Systemic type Epstein-Barr virus-related lymphoproliferative diseases in children and young adults: challenges for pediatric hemato-oncologists and infectious disease specialists.

PubMed

Imashuku, Shinsaku

2007-12-01

Involvement of Epstein-Barr virus (EBV) has long been known in the development of various tumor-forming proliferating diseases, such as nasopharyngeal carcinoma in adults. However, in children and young adults more attention should be focused on systemic, severe type EBV-related diseases, such as fatal infectious mononucleosis, hemophagocytic syndrome, or chronic active EBV infection (CAEBV). These disorders show the typical clinical features of hemophagocytic lymphohistiocytosis (HLH). Although viral infectious diseases are mostly taken care of by infectious disease specialists, pediatric hemato-oncologists need to intervene in the treatment of this kind of disease because of their clonal and neoplastic disease characteristics and of their hematologically problematic, rapid, and life-threatening clinical courses.

Prolonged thrombocytopenia in a child with severe neonatal alloimmune reaction and Noonan syndrome.

PubMed

Salva, Inês; Batalha, Sara; Maia, Raquel; Kjollerstrom, Paula

2016-06-01

Fetomaternal alloimmune thrombocytopenia (FMAIT) caused by maternal antibodies is the leading cause of severe neonatal thrombocytopenia. A 1-month-old Caucasian girl was referred to our Hematology Clinic for persistent thrombocytopenia diagnosed after a bleeding episode. Diagnostic tests suggested FMAIT. Mild thrombocytopenia persisted for 18 months, and subsequent findings of dysmorphic facies, short stature and mild pulmonary stenosis led to the hypothesis of Noonan syndrome (NS), which was confirmed by genetic test. Other hematological abnormalities were excluded and she had no further bleeding episodes. This case illustrates the possibility of different diagnoses with the same clinical manifestations. The persistence of thrombocytopenia longer than expected associated with typical physical features led to the diagnosis of NS.

Diagnosis and Treatment of Vascular Surgery Related Infection

PubMed Central

Zhang, Yong-Gan; Guo, Xue-Li; Song, Yan; Miao, Chao-Feng; Zhang, Chuang; Chen, Ning-Heng

2015-01-01

Surgical site infection (SSI) is an important component of infections acquired from hospital. The most significant feature of vascular surgery different from other surgeries is frequent application of artificial grafts. Once SSI occurs after vascular operations with grafts, it might results in a serious disaster. Staphylococcus aureus and coagulase-negative Staphylococcus are the most common pathogenic bacteria for SSI after vascular surgery. Although SSI in vascular surgery often lacks of typical clinical characters, some clinical symptoms, laboratory data and certain imaging procedures may help to diagnose. In most cases of SSI after vascular procedures, the artificial grafts must be removed and sensitive antibiotics should be administered. However, for different cases, personalized management plan should be made depending on the severity and location of SSI. PMID:26628937

Morphologic, Immunophenotypic, and Molecular Features of Epithelial Ovarian Cancer.

PubMed

Ramalingam, Preetha

2016-02-01

Epithelial ovarian cancer comprises a heterogeneous group of tumors. The four most common subtypes are serous, endometrioid, clear cell, and mucinous carcinoma. Less common are transitional cell tumors, including transitional cell carcinoma and malignant Brenner tumor. While in the past these subtypes were grouped together and designated as epithelial ovarian tumors, these tumor types are now known to be separate entities with distinct clinical and biologic behaviors. From a therapeutic standpoint, current regimens employ standard chemotherapy based on stage and grade rather than histotype. However, this landscape may change in the era of personalized therapy, given that most subtypes (with the exception of high-grade serous carcinoma) are relatively resistant to chemotherapy. It is now well-accepted that high-grade and low-grade serous carcinomas represent distinct entities rather than a spectrum of the same tumor type. While they are similar in that patients present with advanced-stage disease, their histologic and molecular features are entirely different. High-grade serous carcinoma is associated with TP53 mutations, whereas low-grade serous carcinomas are associated with BRAF and KRAS mutations. Endometrioid and clear cell carcinomas typically present as early-stage disease and are frequently associated with endometriosis. Mucinous carcinomas typically present as large unilateral masses and often show areas of mucinous cystadenoma and mucinous borderline tumor. It must be emphasized that primary mucinous carcinomas are uncommon tumors, and metastasis from other sites such as the appendix, colon, stomach, and pancreaticobiliary tract must always be considered in the differential diagnosis. Lastly, transitional cell tumors of the ovary, specifically malignant Brenner tumors, are quite uncommon. High-grade serous carcinoma often has a transitional cell pattern, and adequate sampling in most cases shows more typical areas of serous carcinoma. Immunohistochemical markers are routinely employed in the diagnosis of epithelial ovarian carcinomas. However, molecular testing of these tumors, unlike in endometrial carcinoma, is not routinely used in clinical practice.

Electroencephalographic and imaging profile in a subacute sclerosing panencephalitis (SSPE) cohort: a correlative study.

PubMed

Praveen-kumar, S; Sinha, S; Taly, A B; Jayasree, S; Ravi, V; Vijayan, J; Ravishankar, S

2007-09-01

There are only a few studies correlating diverse radiological and EEG features of subacute sclerosing panencephalitis (SSPE). The objective of the study was to (a) describe EEG profile and (b) correlate it with the clinical and imaging data of patients with confirmed SSPE. This study was conducted at a University teaching hospital in south India and involved 58 patients (M:F=37:21, age: 12.3, SD 4.8 years) of SSPE. Diagnosis of SSPE was based on the characteristic clinical manifestations, and raised IgG (1:625) anti-measles antibody in cerebrospinal fluid (CSF) by ELISA in all the patients. Scalp EEGs were recorded on 16 channel machines using standard parameters and procedures. The EEG, clinical and imaging data were reviewed. EEGs were frequently abnormal: typical (37) and atypical (21). Diffuse slowing of background activity (BGA) was noted in 46 records being asymmetrical in six. Periodic complexes were periodic (32), quasi-periodic (21) or a-periodic (4). Periodic complexes (PC) (amplitude: 370.7, SD 171.2 microV; duration - 1.7, SD 2.0 s; inter-complex interval: 8.4, SD 9.2s) were symmetrical in 39 and asymmetrical in 19. CT (32) and MRI (23) scans were normal in 16 patients while others had white matter (15), cerebral edema (8), cerebral atrophy (8), basal ganglia (2), and thalamic (2) changes. There was an independent association of frontally dominant slowing of BGA (p=0.04) and typical PCs (p=0.03) with the diffuse cerebral edema on imaging. White matter changes correlated with slowing of BGA (p=0.04), but not with typical PC (p=0.16). This study provides valuable insight into the structural and clinical correlates of EEG changes in SSPE. Irrespective of the incidence of occurrence of SSPE in a community, a clinician should be aware of the wide spectra of EEG findings. This study also discusses the possible underlying structural and clinical correlates.

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

PubMed

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

2015-06-01

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

[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.

Ocular Toxocariasis: Clinical Features and Long-term Visual Outcomes in Adult Patients.

PubMed

Despreaux, Raphaelle; Fardeau, Christine; Touhami, Sara; Brasnu, Emmanuelle; Champion, Emmanuelle; Paris, Luc; Touitou, Valérie; Bodaghi, Bahram; Lehoang, Phuc

2016-06-01

To investigate clinical characteristics and treatment outcomes of proven ocular toxocariasis (OT) in adult patients. Retrospective, consecutive, interventional case series. setting: Institutional. Consecutive OT patients with positive serum serology and positive western blot (WB) on ocular sample. Clinical features, optical coherence tomography (OCT), and treatment outcomes. Best-corrected visual acuity (BCVA) and OCT central foveal thickness (CFT). Fourteen patients were included between 2011 and 2013. Mean age at diagnosis was 45.6 years. Mean duration between the first symptoms and diagnosis was 15.1 months. Uveitis was unilateral in all cases and all patients displayed vitreous inflammation. The main baseline findings were presence of ≥1 peripheral granulomas (57.1%), vasculitis (57.1%), vitreoretinal traction (57.1%), and chronic macular edema (ME) (71.4%). Delayed diagnosis (>8 months) seemed to be associated with higher rate of ME. All patients received albendazole. Systemic (n = 5) and/or local corticosteroids (CS) (n = 7) were administered in case of ME and/or posterior segment inflammation. Vitrectomy was performed when vitreous inflammation was severe and persistent despite CS or in case of threatening traction or visually significant epimacular membrane (28.6%). Overall, this regimen allowed significant decrease of CFT (P = .01). In the vitrectomy subgroup, mean BCVA increased (P = .01) and CFT decreased (P = .017). While some features such as granuloma are typical signs of OT, atypical features can delay the diagnosis. In doubtful situations, WB on ocular samples seems to be more specific than serum antibodies alone. ME seems to be a common complication of longstanding OT in the adult. Copyright © 2016 Elsevier Inc. All rights reserved.

Transesophageal echocardiography in cryptogenic stroke and patent foramen ovale: analysis of putative high-risk features from the risk of paradoxical embolism database.

PubMed

Wessler, Benjamin S; Thaler, David E; Ruthazer, Robin; Weimar, Christian; Di Tullio, Marco R; Elkind, Mitchell S V; Homma, Shunichi; Lutz, Jennifer S; Mas, Jean-Louis; Mattle, Heinrich P; Meier, Bernhard; Nedeltchev, Krassen; Papetti, Federica; Di Angelantonio, Emanuele; Reisman, Mark; Serena, Joaquín; Kent, David M

2014-01-01

Patent foramen ovale (PFO) is associated with cryptogenic stroke (CS), although the pathogenicity of a discovered PFO in the setting of CS is typically unclear. Transesophageal echocardiography features such as PFO size, associated hypermobile septum, and presence of a right-to-left shunt at rest have all been proposed as markers of risk. The association of these transesophageal echocardiography features with other markers of pathogenicity has not been examined. We used a recently derived score based on clinical and neuroimaging features to stratify patients with PFO and CS by the probability that their stroke is PFO-attributable. We examined whether high-risk transesophageal echocardiography features are seen more frequently in patients more likely to have had a PFO-attributable stroke (n=637) compared with those less likely to have a PFO-attributable stroke (n=657). Large physiologic shunt size was not more frequently seen among those with probable PFO-attributable strokes (odds ratio [OR], 0.92; P=0.53). The presence of neither a hypermobile septum nor a right-to-left shunt at rest was detected more often in those with a probable PFO-attributable stroke (OR, 0.80; P=0.45; OR, 1.15; P=0.11, respectively). We found no evidence that the proposed transesophageal echocardiography risk markers of large PFO size, hypermobile septum, and presence of right-to-left shunt at rest are associated with clinical features suggesting that a CS is PFO-attributable. Additional tools to describe PFOs may be useful in helping to determine whether an observed PFO is incidental or pathogenically related to CS.

Update on the Medical Management of Gastrointestinal Behçet's Disease

PubMed Central

Venerito, Vincenzo; Franceschini, Rossella; Lapadula, Giovanni; Galeazzi, Mauro; Frediani, Bruno; Iannone, Florenzo

2017-01-01

Behçet's disease (BD) is a multisystemic disorder of unknown etiology mainly defined by recurrent oral aphthosis, genital ulcers, and chronic relapsing bilateral uveitis, all of which represent the “stigmata” of disease. However, many other organs including the vascular, neurological, musculoskeletal, and gastrointestinal systems can be affected. The gastrointestinal involvement in Behçet's disease (GIBD), along with the neurological and vascular ones, represents the most feared clinical manifestation of BD and shares many symptoms with inflammatory bowel diseases, such as Crohn's disease and ulcerative colitis. Consequently, the differential diagnosis is often a daunting task, albeit the presence of typical endoscopic and pathologic findings may be a valuable aid to the exact diagnosis. To date, there are no standardized medical treatments for GIBD; therefore therapy should be tailored to the single patient and based on the severity of the clinical features and their complications. This work provides a digest of all current experience and evidence about pharmacological agents suggested by the medical literature as having a potential role for managing the dreadful features of GIBD. PMID:28210071

[Exploration on academic thoughts of four medical families of acupuncture-moxibustion of the LING, YAN, SHI and SHENG in northern Zhejiang Province].

PubMed

Chen, Feng

2013-12-01

The academic origin and characteristics of medical families of acupuncture-moxibustion in northern Zhejiang Province were explored in this paper. With acupuncture-moxibustion characteristic of medical families in northern Zhejiang Province such as the LING (see text), the YAN (see text), the SHI (see text) and the SHENG (see text) analyzed and arranged, it was found out that taking the Internal Canon of Medicine as theory basis, their academic thoughts comprehensively absorbed acupuncture-moxibustion theories in all ages, and they continuously made innovations through constant practices, resulting in academic thoughts that focusing on application of acupuncture-moxibustion in clinic, using moxibustion for deficient illness and adopting acupuncture-moxibustion and Chinese herbs for severe and acute patients. The academic thoughts of medical families of acupuncture and moxibustion in northern Zhejiang Province are featured by unique acupoint selection and ma nipulation, thorough moxibustion methods and combined application of Chinese herbs and acupuncture-moxibustion, which is a clinical system of diagnosis and treatment with typical Jiangnan features.

Creutzfeldt-Jakob Disease as a Cause of Cognitive Decline and Seizures in the Elderly: Diagnostic Pointers and Strategy for Investigation

PubMed Central

Williams, R.; Cresswell, F.; McClure, M.; Lane, R.

2011-01-01

Cognitive decline affects one in twenty people over the age of 65. There is often a paucity of clues as to the underlying pathology, and while the diagnosis will usually prove to be either Alzheimer's disease or vascular dementia, there may be clinical features suggesting rarer alternatives. This case of a 71-year-old lady with a 3-month history of progressive cognitive decline illustrates clinical features suggestive of Creutzfeltd-Jakob disease such as rapid decline in conscious level and myoclonic jerking. Diagnosis was confirmed by 3 means: (1) Electroencephalogram demonstrating periodic sharp wave complexes, (2) MRI brain showing cortical ribboning and high signal in the caudate nucleus, and (3) presence of protein S100 and protein14-3-3 in the cerebrospinal fluid. Postmortem brain histology confirmed a typical spongiform encephalopathy. Establishing an underlying aetiology is dementia is important not only for prognostic reasons but in order to detect potentially reversible causes. In cases of an atypical dementing illness our proposed investigations may assist in confirming or excluding underlying Creutzfeltd-Jakob disease. PMID:22194754

11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.

PubMed

Jurkiewicz, Dorota; Kugaudo, Monika; Tańska, Anna; Wawrzkiewicz-Witkowska, Angelika; Tomaszewska, Agnieszka; Kucharczyk, Marzena; Cieślikowska, Agata; Ciara, Elżbieta; Krajewska-Walasek, Małgorzata

2015-06-01

Here we report a patient with 11p15.4p15.5 duplication and 13q34 deletion presenting with Beckwith-Wiedemann syndrome (BWS) and moderate deficiency of factor VII (FVII). The duplication was initially diagnosed on methylation-sensitive multiplex ligation-dependent probe amplification. Array comparative genome hybridization confirmed its presence and indicated a 13q34 distal deletion. The patient's clinical symptoms, including developmental delay and facial dysmorphism, were typical of BWS with paternal 11p15 trisomy. Partial 13q monosomy in this patient is associated with moderate deficiency of FVII and may also overlap with a few symptoms of paternal 11p15 trisomy such as developmental delay and some facial features. To our knowledge this is the first report of 11p15.4p15.5 duplication associated with deletion of 13q34 and FVII deficiency. Moreover, this report emphasizes the importance of detailed clinical as well as molecular examinations in patients with BWS features and developmental delay. © 2015 Japan Pediatric Society.

Headache Following Occipital Brain Lesion: A Case of Migraine Triggered by Occipital Spikes?

PubMed

Vollono, Catello; Mariotti, Paolo; Losurdo, Anna; Giannantoni, Nadia Mariagrazia; Mazzucchi, Edoardo; Valentini, Piero; De Rose, Paola; Della Marca, Giacomo

2015-10-01

This study describes the case of an 8-year-old boy who developed a genuine migraine after the surgical excision, from the right occipital lobe, of brain abscesses due to selective infestation of the cerebrum by Entamoeba histolytica. After the surgical treatment, the boy presented daily headaches with typical migraine features, including right-side parieto-temporal pain, nausea, vomiting, and photophobia. Electroencephalography (EEG) showed epileptiform discharges in the right occipital lobe, although he never presented seizures. Clinical and neurophysiological observations were performed, including video-EEG and polygraphic recordings. EEG showed "interictal" epileptiform discharges in the right occipital lobe. A prolonged video-EEG recording performed before, during, and after an acute attack ruled out ictal or postictal migraine. In this boy, an occipital lesion caused occipital epileptiform EEG discharges without seizures, probably prevented by the treatment. We speculate that occipital spikes, in turn, could have caused a chronic headache with features of migraine without aura. Occipital epileptiform discharges, even in absence of seizures, may trigger a genuine migraine, probably by means of either the trigeminovascular or brainstem system. © EEG and Clinical Neuroscience Society (ECNS) 2014.

Prevalence of spinocerebellar ataxia 36 in a US population.

PubMed

Valera, Juliana M; Diaz, Tatyana; Petty, Lauren E; Quintáns, Beatriz; Yáñez, Zuleima; Boerwinkle, Eric; Muzny, Donna; Akhmedov, Dmitry; Berdeaux, Rebecca; Sobrido, Maria J; Gibbs, Richard; Lupski, James R; Geschwind, Daniel H; Perlman, Susan; Below, Jennifer E; Fogel, Brent L

2017-08-01

To assess the prevalence and clinical features of individuals affected by spinocerebellar ataxia 36 (SCA36) at a large tertiary referral center in the United States. A total of 577 patients with undiagnosed sporadic or familial cerebellar ataxia comprehensively evaluated at a tertiary referral ataxia center were molecularly evaluated for SCA36. Repeat primed PCR and fragment analysis were used to screen for the presence of a repeat expansion in the NOP56 gene. Fragment analysis of triplet repeat primed PCR products identified a GGCCTG hexanucleotide repeat expansion in intron 1 of NOP56 in 4 index cases. These 4 SCA36-positive families comprised 2 distinct ethnic groups: white (European) (2) and Asian (Japanese [1] and Vietnamese [1]). Individuals affected by SCA36 exhibited typical clinical features with gait ataxia and age at onset ranging between 35 and 50 years. Patients also suffered from ataxic or spastic limbs, altered reflexes, abnormal ocular movement, and cognitive impairment. In a US population, SCA36 was observed to be a rare disorder, accounting for 0.7% (4/577 index cases) of disease in a large undiagnosed ataxia cohort.

Histopathological and immunohistochemical profile in anaplastic gangliogliomas.

PubMed

Romero-Rojas, Alfredo E; Diaz-Perez, Julio A; Chinchilla-Olaya, Sandra I; Amaro, Deirdre; Lozano-Castillo, Alfonso; Restrepo-Escobar, Ligia I

2013-01-01

The anaplastic ganglioglioma (AG) is the high-grade counterpart of ganglioglioma, a rare mixed tumor composed of neuronal/ganglion and glial cells. We describe the histopathology and immunohistochemistry in 7 cases of AG and correlate them with the clinical and radiological features. Our AG patients correspond to 2.5% of the central nervous system tumor patients evaluated in our institution. The mean age at presentation was 25.7 years, with a male predominance. The most common clinical presentation was generalized tonic-clonic seizures (3/7 cases), in correlation with frequent cortical/subcortical location (6/7 cases). Histopathologically, all our cases showed high-grade features in glial (glial fibrillary acid protein-positive) and neuron-ganglion cells (synaptophysin, PGP-9.5, neurofilament, NSE and CD56-positive), as well as moderate cellularity, frequent mitotic figures and a Ki-67 labeling index >5%. All our patients had poor survival. We found that a typical histopathological and immunohistochemical profile is constant and can be useful in early diagnosis of these aggressive neoplasms. Copyright © 2013 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.

Progress and roadblocks in the search for brain-based biomarkers of autism and attention-deficit/hyperactivity disorder.

PubMed

Uddin, L Q; Dajani, D R; Voorhies, W; Bednarz, H; Kana, R K

2017-08-22

Children with neurodevelopmental disorders benefit most from early interventions and treatments. The development and validation of brain-based biomarkers to aid in objective diagnosis can facilitate this important clinical aim. The objective of this review is to provide an overview of current progress in the use of neuroimaging to identify brain-based biomarkers for autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), two prevalent neurodevelopmental disorders. We summarize empirical work that has laid the foundation for using neuroimaging to objectively quantify brain structure and function in ways that are beginning to be used in biomarker development, noting limitations of the data currently available. The most successful machine learning methods that have been developed and applied to date are discussed. Overall, there is increasing evidence that specific features (for example, functional connectivity, gray matter volume) of brain regions comprising the salience and default mode networks can be used to discriminate ASD from typical development. Brain regions contributing to successful discrimination of ADHD from typical development appear to be more widespread, however there is initial evidence that features derived from frontal and cerebellar regions are most informative for classification. The identification of brain-based biomarkers for ASD and ADHD could potentially assist in objective diagnosis, monitoring of treatment response and prediction of outcomes for children with these neurodevelopmental disorders. At present, however, the field has yet to identify reliable and reproducible biomarkers for these disorders, and must address issues related to clinical heterogeneity, methodological standardization and cross-site validation before further progress can be achieved.

Clinical Practice Guidelines for the Management of Atopic Dermatitis 2016.

PubMed

Saeki, Hidehisa; Nakahara, Takeshi; Tanaka, Akio; Kabashima, Kenji; Sugaya, Makoto; Murota, Hiroyuki; Ebihara, Tamotsu; Kataoka, Yoko; Aihara, Michiko; Etoh, Takafumi; Katoh, Norito

2016-10-01

Atopic dermatitis (AD) is a disease characterized by relapsing eczema with pruritus as a primary lesion. Most patients have an atopic predisposition. The definitive diagnosis of AD requires the presence of all three features: (i) pruritus; (ii) typical morphology and distribution of the eczema; and (iii) chronic and chronically relapsing course. The current strategies to treat AD in Japan from the perspective of evidence-based medicine consist of three primary measures: (i) the use of topical corticosteroids and tacrolimus ointment as the main treatment for the inflammation; (ii) topical application of emollients to treat the cutaneous barrier dysfunction; and (iii) avoidance of apparent exacerbating factors, psychological counseling and advice about daily life. The guidelines present recommendations to review clinical research articles, evaluate the balance between the advantages and disadvantages of medical activities, and optimize medical activity-related patient outcomes with respect to several important points requiring decision-making in clinical practice. © 2016 Japanese Dermatological Association.

Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy.

PubMed

Conti, Sara; Condò, Maria; Posar, Annio; Mari, Francesca; Resta, Nicoletta; Renieri, Alessandra; Neri, Iria; Patrizi, Annalisa; Parmeggiani, Antonia

2012-03-01

Phosphatase and tensin homolog (PTEN) gene mutations are associated with a spectrum of clinical disorders characterized by skin lesions, macrocephaly, hamartomatous overgrowth of tissues, and an increased risk of cancers. Autism has rarely been described in association with these variable clinical features. At present, 24 patients with phosphatase and tensin homolog gene mutation, autism, macrocephaly, and some clinical findings described in phosphatase and tensin homolog syndromes have been reported in the literature. We describe a 14-year-old boy with autistic disorder, focal epilepsy, severe and progressive macrocephaly, and multiple papular skin lesions and palmoplantar punctate keratoses, characteristic of Cowden syndrome. The boy has a de novo phosphatase and tensin homolog gene mutation. Our patient is the first case described to present a typical Cowden syndrome and autism associated with epilepsy.

Modified ride-on toy cars for early power mobility: a technical report.

PubMed

Huang, Hsiang-Han; Galloway, James C

2012-01-01

Children with significantly decreased mobility have limited opportunities to explore their physical and social environment. A variety of assistive technologies are available to increase mobility; however, no single device provides the level of functional mobility that children developing typically enjoy. The purpose of this technical report is to formally introduce a new power mobility option--the modified ride-on toy car. This report will provide (a) an overview of toy car features, (b) examples of basic electrical and mechanical modifications, and (c) a brief clinical case. With creative use and customized modifications, toy cars can function as a "general learning environment" for use in the clinic, home, and school. As such, we anticipate that these cars will become a multiuse clinical tool to address not only mobility goals but also goals involving body function and structure such as posture and movement impairments.

Clinical features of ocular toxoplasmosis in Korean patients.

PubMed

Park, Young-Hoon; Han, Jae-Hyung; Nam, Ho-Woo

2011-06-01

We report here the records of 10 consecutive Korean patients (10 eyes) with ocular toxoplasmosis which showed the typical clinical manifestations with seropositivity for Toxoplasma gondii specific IgG antibodies by micro-ELISA between 2006 and 2010. Nine patients were males and 1 was female; their age was 50.5 ± 13.8 years. The most common accompanying signs were vitritis (100%), anterior uveitis (70%), and scattered white deposit (80%). Pre-existing retinochoroidal scar was found in 1 (10%) patient. All patients received antiparasitic chemotherapy and systemic corticosteroid treatment, which resolved the presenting attack and recovered the visual acuity better than initial one in 9 patients and worse in 1. Optic atrophy, cataract, and retinal neovascularization were observed during the follow-up period and recurrence was detected in 3 eyes (30%) 6 to 20 months after the initial attack. In Korea, although rarely detected and reported, ocular toxoplasmosis needs more attention in clinical field of retinal diseases.

Epidermal growth factor receptor expression in different subtypes of oral lichenoid disease

PubMed Central

Cortés-Ramírez, Dionisio A.; Rodríguez-Tojo, María J.; Coca-Meneses, Juan C.; Marichalar-Mendia, Xabier

2014-01-01

The oral lichenoid disease (OLD) includes different chronic inflammatory processes such as oral lichen planus (OLP) and oral lichenoid lesions (OLL), both entities with controversial diagnosis and malignant potential. Epidermal growth factor receptor (EFGR) is an important oral carcinogenesis biomarker and overexpressed in several oral potentially malignant disorders. Objectives: To analyze the EGFR expression in the OLD to find differences between OLP and OLL, and to correlate it with the main clinical and pathological features. Material and Methods: Forty-four OLD cases were studied and classified according to their clinical (Group C1: only papular lesions / Group C2: papular and other lesions) and histopathological features (Group HT: OLP-typical / Group HC: OLP-compatible) based in previous published criteria. Standard immunohistochemical identification of EGFR protein was performed. Comparative and descriptive statistical analyses were performed. Results: Thirty-five cases (79.5%) showed EGFR overexpression without significant differences between clinical and histopathological groups (p<0.05). Histological groups showed significant differences in the EGFR expression pattern (p=0.016). Conlusions: All OLD samples showed high EGFR expression. The type of clinical lesion was not related with EGFR expression; however, there are differences in the EGFR expression pattern between histological groups that may be related with a different biological profile and malignant risk. Key words:Oral lichenoid disease, oral lichen planus, oral lichenoid lesion, oral carcinogenesis, EGFR. PMID:24880441

[Clinical and pathological features of Alport syndrome in children].

PubMed

Zhu, Chun-Hua; Huang, Song-Ming; Wu, Hong-Mei; Bao, Hua-Ying; Chen, Ying; Han, Yuan; Zhao, Fei; Zhang, Ai-Hua; Zhang, Wei-Zhen

2010-03-01

To study the clinical and pathological features of Alport syndrome in children. The clinical and histopathological data of 10 hospitalized children with Alport syndrome from February 2007 to February 2009 were retrospectively reviewed. There were 7 males and 3 females, with the age ranging from 2 years to 6 years and 7 months (mean 3 years and 2 months). Five of 10 cases had positive family history. X-linked dominant inheritance Alport syndrome was diagnosed in 8 cases, and autosomal recessive inheritance Alport syndrome in 2 cases. Recurrent gross hematuria was found in 5 cases, hematuria and proteinuria in 3 cases, massive proteinuria in 1 case, and nephritic syndrome in 1 case. Under the light microscope, 8 cases presented with mesangial proliferation glomerulonephritis, and 2 cases with focal segmental glomerulosclerosis. Immunofluorescence assay showed that all cases had IgM deposition in glomerulus. Only 1 case showed typical glomerular basement membrane (GBM) pathological changes. All cases showed abnormal alpha-chain distribution in renal collagen IV. The children with Alport syndrome have diverse clinical manifestations. Characteristic histopathological presentations could not be found under a light microscope, mesangial proliferation glomerulonephritis is the dominant pathological change, and IgM deposition in glomerulus is common. The GBM pathological change in children is not common. Immunofluorescence assay of alpha-chain in collagen IV is needed for the diagnosis of Alport syndrome.

Beyond the CRAB symptoms: a study of presenting clinical manifestations of multiple myeloma.

PubMed

Talamo, Giampaolo; Farooq, Umar; Zangari, Maurizio; Liao, Jason; Dolloff, Nathan G; Loughran, Thomas P; Epner, Elliot

2010-12-01

Although the typical clinical manifestations of multiple myeloma (MM) are summarized by the CRAB symptoms (hypercalcemia, renal insufficiency, anemia, and bone lesions), a significant proportion of patients with MM present with a variety of other clinical manifestations. We conducted a study evaluating the presenting symptoms that led to the diagnosis of MM. We conducted a retrospective review of 170 consecutive patients with MM seen at the Penn State Hershey Cancer Institute. Among patients with symptomatic MM, 74% presented with CRAB symptoms, 20% presented with non-CRAB manifestations, and 6% had both clinical features. Ten categories of non-CRAB manifestations were found, in order of decreasing frequency: neuropathy (because of spinal cord compression, nerve root compression, or peripheral neuropathy), extramedullary involvement, hyperviscosity syndrome, concomitant amyloidosis (eg, nephrotic syndrome or cardiopathy), hemorrhage/coagulopathy, systemic symptoms (eg, fever or weight loss), primary plasma cell leukemia, infections, cryoglobulinemia, and secondary gout. Kaplan-Meier estimates of survival in patients with non-CRAB manifestations did not show a significant difference from the survival of patients presenting with CRAB symptoms. Presenting symptoms of MM may be grouped in a total of 14 categories, 4 for the CRAB and 10 for the less common non-CRAB features. Grouped together, non-CRAB manifestations do not appear to confer a negative effect on the prognosis of patients with MM.

Speech-feature discrimination in children with Asperger syndrome as determined with the multi-feature mismatch negativity paradigm.

PubMed

Kujala, T; Kuuluvainen, S; Saalasti, S; Jansson-Verkasalo, E; von Wendt, L; Lepistö, T

2010-09-01

Asperger syndrome, belonging to the autistic spectrum of disorders, involves deficits in social interaction and prosodic use of language but normal development of formal language abilities. Auditory processing involves both hyper- and hypoactive reactivity to acoustic changes. Responses composed of mismatch negativity (MMN) and obligatory components were recorded for five types of deviations in syllables (vowel, vowel duration, consonant, syllable frequency, syllable intensity) with the multi-feature paradigm from 8-12-year old children with Asperger syndrome. Children with Asperger syndrome had larger MMNs for intensity and smaller MMNs for frequency changes than typically developing children, whereas no MMN group differences were found for the other deviant stimuli. Furthermore, children with Asperger syndrome performed more poorly than controls in Comprehension of Instructions subtest of a language test battery. Cortical speech-sound discrimination is aberrant in children with Asperger syndrome. This is evident both as hypersensitive and depressed neural reactions to speech-sound changes, and is associated with features (frequency, intensity) which are relevant for prosodic processing. The multi-feature MMN paradigm, which includes variation and thereby resembles natural speech hearing circumstances, suggests abnormal pattern of speech discrimination in Asperger syndrome, including both hypo- and hypersensitive responses for speech features. 2010 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

The atypical pneumonias: clinical diagnosis and importance.

PubMed

Cunha, B A

2006-05-01

The most common atypical pneumonias are caused by three zoonotic pathogens, Chlamydia psittaci (psittacosis), Francisella tularensis (tularemia), and Coxiella burnetii (Q fever), and three nonzoonotic pathogens, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella. These atypical agents, unlike the typical pathogens, often cause extrapulmonary manifestations. Atypical CAPs are systemic infectious diseases with a pulmonary component and may be differentiated clinically from typical CAPs by the pattern of extrapulmonary organ involvement which is characteristic for each atypical CAP. Zoonotic pneumonias may be eliminated from diagnostic consideration with a negative contact history. The commonest clinical problem is to differentiate legionnaire's disease from typical CAP as well as from C. pneumoniae or M. pneumonia infection. Legionella is the most important atypical pathogen in terms of severity. It may be clinically differentiated from typical CAP and other atypical pathogens by the use of a weighted point system of syndromic diagnosis based on the characteristic pattern of extrapulmonary features. Because legionnaire's disease often presents as severe CAP, a presumptive diagnosis of Legionella should prompt specific testing and empirical anti-Legionella therapy such as the Winthrop-University Hospital Infectious Disease Division's weighted point score system. Most atypical pathogens are difficult or dangerous to isolate and a definitive laboratory diagnosis is usually based on indirect, i.e., direct flourescent antibody (DFA), indirect flourescent antibody (IFA). Atypical CAP is virtually always monomicrobial; increased IFA IgG tests indicate past exposure and not concurrent infection. Anti-Legionella antibiotics include macrolides, doxycycline, rifampin, quinolones, and telithromycin. The drugs with the highest level of anti-Legionella activity are quinolones and telithromycin. Therapy is usually continued for 2 weeks if potent anti-Legionella drugs are used. In adults, M. pneumoniae and C. pneumoniae may exacerbate or cause asthma. The importance of the atypical pneumonias is not related to their frequency (approximately 15% of CAPs), but to difficulties in their diagnosis, and their nonresponsiveness to beta-lactam therapy. Because of the potential role of C. pneumoniae in coronary artery disease and multiple sclerosis (MS), and the role of M. pneumoniae and C. pneumoniae in causing or exacerbating asthma, atypical CAPs also have public health importance.

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

PubMed

Tatton-Brown, Katrina; Murray, Anne; Hanks, Sandra; Douglas, Jenny; Armstrong, Ruth; Banka, Siddharth; Bird, Lynne M; Clericuzio, Carol L; Cormier-Daire, Valerie; Cushing, Tom; Flinter, Frances; Jacquemont, Marie-Line; Joss, Shelagh; Kinning, Esther; Lynch, Sally Ann; Magee, Alex; McConnell, Vivienne; Medeira, Ana; Ozono, Keiichi; Patton, Michael; Rankin, Julia; Shears, Debbie; Simon, Marleen; Splitt, Miranda; Strenger, Volker; Stuurman, Kyra; Taylor, Clare; Titheradge, Hannah; Van Maldergem, Lionel; Temple, I Karen; Cole, Trevor; Seal, Sheila; Rahman, Nazneen

2013-12-01

Weaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In 2011, mutations in the histone methyltransferase, EZH2, were shown to cause Weaver syndrome. To date, we have identified 48 individuals with EZH2 mutations. The mutations were primarily missense mutations occurring throughout the gene, with some clustering in the SET domain (12/48). Truncating mutations were uncommon (4/48) and only identified in the final exon, after the SET domain. Through analyses of clinical data and facial photographs of EZH2 mutation-positive individuals, we have shown that the facial features can be subtle and the clinical diagnosis of Weaver syndrome is thus challenging, especially in older individuals. However, tall stature is very common, reported in >90% of affected individuals. Intellectual disability is also common, present in ~80%, but is highly variable and frequently mild. Additional clinical features which may help in stratifying individuals to EZH2 mutation testing include camptodactyly, soft, doughy skin, umbilical hernia, and a low, hoarse cry. Considerable phenotypic overlap between Sotos and Weaver syndromes is also evident. The identification of an EZH2 mutation can therefore provide an objective means of confirming a subtle presentation of Weaver syndrome and/or distinguishing Weaver and Sotos syndromes. As mutation testing becomes increasingly accessible and larger numbers of EZH2 mutation-positive individuals are identified, knowledge of the clinical spectrum and prognostic implications of EZH2 mutations should improve. © 2013 Wiley Periodicals, Inc.

[The neuroanatomy of attention deficit hyperactivity disorder: neuropsychological and clinical correlates].

PubMed

Albert, J; Fernandez-Jaen, A; Martin Fernandez-Mayoralas, D; Lopez-Martin, S; Fernandez-Perrone, A L; Calleja-Perez, B; Jimenez-De la Pena, M; Recio-Rodriguez, M

2016-07-16

The development of structural magnetic resonance scanning and new methods of analysis has made it possible to explore, in a hitherto unknown way, the neuroanatomical bases of attention deficit hyperactivity disorder (ADHD). Yet, little is known about the relation between the clinical symptoms and the neuropsychological dysfunctions characterising ADHD and the neuroanatomical alterations that are observed. To explore the relation between neuroanatomy, clinical features and neuropsychology in ADHD. At group level, there are a number of marked differences between the brain of children, adolescents and adults with ADHD and the brain of subjects with a typical development. These differences are observed cross-sectionally and longitudinally in all the measurements, both in the grey matter and in the white matter. Although still scarce, there is an increasing body of evidence showing that these differences are related with the core symptoms of the disorder and with the degree of clinical dysfunction. They also appear to be associated with cognitive functioning (mainly attention and inhibitory control). The relation among the different levels of analysis in the study of ADHD bring research closer to the clinical features and allows a better understanding and management of the disorder. Although progress is undoubtedly being made in this field, there are still many questions that need exploring in greater depth. There is a need for a better understanding of the association between the neuroanatomical measurements and each dimension of the symptoms, and their relationship with other neuropsychological processes that are also involved in the disorder.

Clinical skin imaging using color spatial frequency domain imaging (Conference Presentation)

NASA Astrophysics Data System (ADS)

Yang, Bin; Lesicko, John; Moy, Austin J.; Reichenberg, Jason; Tunnell, James W.

2016-02-01

Skin diseases are typically associated with underlying biochemical and structural changes compared with normal tissues, which alter the optical properties of the skin lesions, such as tissue absorption and scattering. Although widely used in dermatology clinics, conventional dermatoscopes don't have the ability to selectively image tissue absorption and scattering, which may limit its diagnostic power. Here we report a novel clinical skin imaging technique called color spatial frequency domain imaging (cSFDI) which enhances contrast by rendering color spatial frequency domain (SFD) image at high spatial frequency. Moreover, by tuning spatial frequency, we can obtain both absorption weighted and scattering weighted images. We developed a handheld imaging system specifically for clinical skin imaging. The flexible configuration of the system allows for better access to skin lesions in hard-to-reach regions. A total of 48 lesions from 31 patients were imaged under 470nm, 530nm and 655nm illumination at a spatial frequency of 0.6mm^(-1). The SFD reflectance images at 470nm, 530nm and 655nm were assigned to blue (B), green (G) and red (R) channels to render a color SFD image. Our results indicated that color SFD images at f=0.6mm-1 revealed properties that were not seen in standard color images. Structural features were enhanced and absorption features were reduced, which helped to identify the sources of the contrast. This imaging technique provides additional insights into skin lesions and may better assist clinical diagnosis.

Catatonia in Resource Limited Settings: A Case Series and Treatment Protocol

PubMed Central

Smith, Stephanie L.; Grelotti, David J.; Fils-Aime, Reginald; Uwimana, Eugenie; Ndikubwimana, Jean-Sauveur; Therosme, Tatiana; Severe, Jennifer; Dushimiyimana, Dominique; Uwamariya, Clemence; Bienvenu, Robert; Alcindor, Yoldie; Eustache, Eddy; Raviola, Giuseppe J.; Fricchione, Gregory L.

2014-01-01

Objective The Catatonic Syndrome (“catatonia”) is characterized by motor and motivation dysregulation and is associated with a number of neuropsychiatric and medical disorders. It is recognizable in a variety of clinical settings. We present observations from the treatment of four individuals with catatonia in Haiti and Rwanda, and introduce a treatment protocol for use in resource limited settings Methods Four patients from rural Haiti and Rwanda with clinical signs of catatonia and a positive screen using the Bush-Francis-Catatonia Rating Scale were treated collaboratively by general physicians and mental health clinicians with either lorazepam or diazepam. Success in treatment was clinically assessed by complete remittance of catatonia symptoms. Results The four patients in this report exhibited a range of characteristic and recognizable signs of catatonia, including immobility/stupor, stereotypic movements, echophenomena, posturing, odd mannerisms, mutism, and refusal to eat or drink. All four cases presented initially to rural outpatient general health services in low resource settings. In some cases, diagnostic uncertainty initially led to treatment with typical antipsychotics. In each case, proper identification and treatment of catatonia with benzodiazepines led to significant clinical improvement. Conclusion Catatonia can be effectively and inexpensively treated in resource limited settings. Identification and management of catatonia is critical for the health and safety of patients with this syndrome. Familiarity with the clinical features of catatonia is essential for health professionals working in low resource settings. To facilitate early recognition of this treatable disorder, catatonia should feature more prominently in global mental health discourse. PMID:25467078

Automatic classification of patients with idiopathic Parkinson's disease and progressive supranuclear palsy using diffusion MRI datasets

NASA Astrophysics Data System (ADS)

Talai, Sahand; Boelmans, Kai; Sedlacik, Jan; Forkert, Nils D.

2017-03-01

Parkinsonian syndromes encompass a spectrum of neurodegenerative diseases, which can be classified into various subtypes. The differentiation of these subtypes is typically conducted based on clinical criteria. Due to the overlap of intra-syndrome symptoms, the accurate differential diagnosis based on clinical guidelines remains a challenge with failure rates up to 25%. The aim of this study is to present an image-based classification method of patients with Parkinson's disease (PD) and patients with progressive supranuclear palsy (PSP), an atypical variant of PD. Therefore, apparent diffusion coefficient (ADC) parameter maps were calculated based on diffusion-tensor magnetic resonance imaging (MRI) datasets. Mean ADC values were determined in 82 brain regions using an atlas-based approach. The extracted mean ADC values for each patient were then used as features for classification using a linear kernel support vector machine classifier. To increase the classification accuracy, a feature selection was performed, which resulted in the top 17 attributes to be used as the final input features. A leave-one-out cross validation based on 56 PD and 21 PSP subjects revealed that the proposed method is capable of differentiating PD and PSP patients with an accuracy of 94.8%. In conclusion, the classification of PD and PSP patients based on ADC features obtained from diffusion MRI datasets is a promising new approach for the differentiation of Parkinsonian syndromes in the broader context of decision support systems.

Heterotopic gastric mucosa in gallbladder—A rare differential diagnosis to gallbladder masses

PubMed Central

Beeskow, Anne Bettina; Meyer, Hans-Jonas; Schierle, Katrin; Surov, Alexey

2018-01-01

Abstract Background: Heterotopic gastric tissue can be found in the entire gastrointestinal tract. It is usually located in the upper intestine. Rarely, it can be found in the gallbladder. This study describes several clinically, imaging features as well as histopathology findings of heterotopic gastric tissue in gallbladder (HGM). Methods: The radiologic database of 1 tertiary university hospital was retrospectively screened for HGM. Additionally, a systemic review of the Medline database was conducted to identify previously published cases reports. In all cases clinical, imaging as well as histopathology features were retrieved from the papers. Results: In our databases, 1 patient with HGM was identified. Additionally, the systemic review yielded 32 suitable papers with 34 patients. Clinically, most of the patients suffered from abdominal discomfort. Most of the lesions were located in the lower gallbladder, especially (n = 14, 40%) in the gallbladder neck. On sonography, in 20.7% a broad-based mass was described. In 10.3% a sessile polyp was identified. In 5 cases, the mass was characterized as hyperechoic (55.5%), as isoechoic in 3 (33.3%) cases, and hypoechoic in 1 (11.1%). On computed tomography (CT), the lesions were most frequently hyperdense and all of them showed a slightly enhancement after application of contrast medium. On histopathology, most cases revealed heterotopic gastric mucosa of body-fundic type (60%) with chief and parietal cells, followed by pyloric type glands (20%). Every patient was treated with cholecystectomy and all had an uneventful recovery. Conclusion: HGM is a rare disorder with several differential diagnoses. Typically features were described to identify HGM in clinical routine and rule out malignant diseases like gallbladder carcinoma. PMID:29517663

Histology, Fusion Status, and Outcome in Alveolar Rhabdomyosarcoma With Low-Risk Clinical Features: A Report From the Children's Oncology Group.

PubMed

Arnold, Michael A; Anderson, James R; Gastier-Foster, Julie M; Barr, Frederic G; Skapek, Stephen X; Hawkins, Douglas S; Raney, R Beverly; Parham, David M; Teot, Lisa A; Rudzinski, Erin R; Walterhouse, David O

2016-04-01

Distinguishing alveolar rhabdomyosarcoma (ARMS) from embryonal rhabdomyosarcoma (ERMS) is of prognostic and therapeutic importance. Criteria for classifying these entities evolved significantly from 1995 to 2013. ARMS is associated with inferior outcome; therefore, patients with alveolar histology have generally been excluded from low-risk therapy. However, patients with ARMS and low-risk stage and group (Stage 1, Group I/II/orbit III; or Stage 2/3, Group I/II) were eligible for the Children's Oncology Group (COG) low-risk rhabdomyosarcoma (RMS) study D9602 from 1997 to 1999. The characteristics and outcomes of these patients have not been previously reported, and the histology of these cases has not been reviewed using current criteria. We re-reviewed cases that were classified as ARMS on D9602 using current histologic criteria, determined PAX3/PAX7-FOXO1 fusion status, and compared these data with outcome for this unique group of patients. Thirty-eight patients with ARMS were enrolled onto D9602. Only one-third of cases with slides available for re-review (11/33) remained classified as ARMS by current histologic criteria. Most cases were reclassified as ERMS (17/33, 51.5%). Cases that remained classified as ARMS were typically fusion-positive (8/11, 73%), therefore current classification results in a similar rate of fusion-positive ARMS for all clinical risk groups. In conjunction with data from COG intermediate-risk treatment protocol D9803, our data demonstrate excellent outcomes for fusion-negative ARMS with otherwise low-risk clinical features. Patients with fusion-positive RMS with low-risk clinical features should be classified and treated as intermediate risk, while patients with fusion-negative ARMS could be appropriately treated with reduced intensity therapy. © 2016 Wiley Periodicals, Inc.

Bartsocas-papas syndrome: unusual findings in the first reported egyptian family.

PubMed

Abdalla, E M; Morsy, H

2011-01-01

Bartsocas-Papas syndrome (BPS) is an autosomal recessive syndrome with severe craniofacial, limb, and genital abnormalities. As of 2011, 24 published cases and families were registered in the Orphanet Report Series. Compared to other disorders characterized by pterygia, the condition is usually more severe and often lethal: most affected patients die in utero or shortly after birth. We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia. This male patient actually did not present with pterygia, however, we find his clinical description noteworthy.

The pivotal role of inflammation in scar/keloid formation after acne

PubMed Central

Shi, Chao; Zhu, Jianyu; Yang, Degang

2017-01-01

ABSTRACT Most keloids are clinically observed as solid nodules or claw-like extensions. However, they appear hypoechoic on ultrasound images and are therefore easily confused with liquid features such as blood or vessels. The pathological manifestations of typical keloids also include prominent, thick blood vessels. The existing classification of scars fails to reflect the natural history of keloids. The outer characteristics of a typical keloid include bright red hyperplasia with abundant vessels, suggesting the importance of vascular components in the process of scar formation and prompting consideration of the role of inflammation in the development of granular hyperplasia. Additionally, we further considered the potential effectiveness of oral isotretinoin for severe keloids secondary to severe acne. We also explored different principles and applications related to 5-fluorouracil (5-FU), pulsed dye laser (PDL), and CO2 laser treatments for scars. PMID:29707102

Clinical features and growth hormone receptor gene mutations of patients with Laron syndrome from a Chinese family.

PubMed

Ying, Yan-Qin; Wei, Hong; Cao, Li-Zhi; Lu, Juan-Juan; Luo, Xiao-Ping

2007-08-01

Laron syndrome is an autosomal recessive disorder caused by defects of growth hormone receptor (GHR) gene. It is characterized by severe postnatal growth retardation and characteristic facial features as well as high circulating levels of growth hormone (GH) and low levels of insulin-like growth factor I (IGF-I) and insulin-like growth factor binding protein-3 (IGFBP-3). This report described the clinical features and GHR gene mutations in 2 siblings with Laron syndrome in a Chinese family. Their heights and weights were in the normal range at birth, but the growth was retarded after birth. When they presented to the clinic, the heights of the boy (8 years old) and his sister (11 years old) were 80.0 cm (-8.2 SDS) and 96.6 cm (-6.8 SDS) respectively. They had typical appearance features of Laron syndrome such as short stature and obesity, with protruding forehead, saddle nose, large eyes, sparse and thin silky hair and high-pitched voice. They had higher basal serum GH levels and lower serum levels of IGF-I, IGFBP-3 and growth hormone binding protein (GHBP) than normal controls. The peak serum GH level after colonidine and insulin stimulations in the boy was over 350 ng/mL. After one-year rhGH treatment, the boy's height increased from 80.0 cm to 83.3 cm. The gene mutation analysis revealed that two patients had same homozygous mutation of S65H (TCA -->CCA) in exon 4, which is a novel gene mutation. It was concluded that a definite diagnosis of Laron syndrome can be made based on characteristic appearance features and serum levels of GH, IGF-I, IGFBP-3 and GHBP. The S65H mutation might be the cause of Laron syndrome in the two patients.

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome

PubMed Central

O'Grady, Gina L.; Verschuuren, Corien; Yuen, Michaela; Webster, Richard; Menezes, Manoj; Fock, Johanna M.; Pride, Natalie; Best, Heather A.; Benavides Damm, Tatiana; Turner, Christian; Lek, Monkol; Engel, Andrew G.; North, Kathryn N.; Clarke, Nigel F.; MacArthur, Daniel G.; Kamsteeg, Erik-Jan

2016-01-01

Objective: To describe the clinical and genetic characteristics of presynaptic congenital myasthenic syndrome secondary to biallelic variants in SLC18A3. Methods: Individuals from 2 families were identified with biallelic variants in SLC18A3, the gene encoding the vesicular acetylcholine transporter (VAChT), through whole-exome sequencing. Results: The patients demonstrated features seen in presynaptic congenital myasthenic syndrome, including ptosis, ophthalmoplegia, fatigable weakness, apneic crises, and deterioration of symptoms in cold water for patient 1. Both patients demonstrated moderate clinical improvement on pyridostigmine. Patient 1 had a broader phenotype, including learning difficulties and left ventricular dysfunction. Electrophysiologic studies were typical for a presynaptic defect. Both patients showed profound electrodecrement on low-frequency repetitive stimulation followed by a prolonged period of postactivation exhaustion. In patient 1, this was unmasked only after isometric contraction, a recognized feature of presynaptic disease, emphasizing the importance of activation procedures. Conclusions: VAChT is responsible for uptake of acetylcholine into presynaptic vesicles. The clinical and electrographic characteristics of the patients described are consistent with previously reported mouse models of VAChT deficiency. These findings make it very likely that defects in VAChT due to variants in SLC18A3 are a cause of congenital myasthenic syndrome in humans. PMID:27590285

Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization

PubMed Central

Yang, Wen-Xu; Pan, Hong; Li, Lin; Wu, Hai-Rong; Wang, Song-Tao; Bao, Xin-Hua; Jiang, Yu-Wu; Qi, Yu

2016-01-01

Background: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that is typically caused by a deletion of the distal portion of the short arm of chromosome 4. However, there are few reports about the features of Chinese WHS patients. This study aimed to characterize the clinical and molecular cytogenetic features of Chinese WHS patients using the combination of multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (array CGH). Methods: Clinical information was collected from ten patients with WHS. Genomic DNA was extracted from the peripheral blood of the patients. The deletions were analyzed by MLPA and array CGH. Results: All patients exhibited the core clinical symptoms of WHS, including severe growth delay, a Greek warrior helmet facial appearance, differing degrees of intellectual disability, and epilepsy or electroencephalogram anomalies. The 4p deletions ranged from 2.62 Mb to 17.25 Mb in size and included LETM1, WHSC1, and FGFR3. Conclusions: The combined use of MLPA and array CGH is an effective and specific means to diagnose WHS and allows for the precise identification of the breakpoints and sizes of deletions. The deletion of genes in the WHS candidate region is closely correlated with the core WHS phenotype. PMID:26960370

Classification and clinical behavior of blastic plasmacytoid dendritic cell neoplasms according to their maturation-associated immunophenotypic profile

PubMed Central

Martín-Martín, Lourdes; López, Antonio; Vidriales, Belén; Caballero, María Dolores; Rodrigues, António Silva; Ferreira, Silvia Inês; Lima, Margarida; Almeida, Sérgio; Valverde, Berta; Martínez, Pilar; Ferrer, Ana; Candeias, Jorge; Ruíz-Cabello, Francisco; Buadesa, Josefa Marco; Sempere, Amparo; Villamor, Neus

2015-01-01

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare subtype of leukemia/lymphoma, whose diagnosis can be difficult to achieve due to its clinical and biological heterogeneity, as well as its overlapping features with other hematologic malignancies. In this study we investigated whether the association between the maturational stage of tumor cells and the clinico-biological and prognostic features of the disease, based on the analysis of 46 BPDCN cases classified into three maturation-associated subgroups on immunophenotypic grounds. Our results show that blasts from cases with an immature plasmacytoid dendritic cell (pDC) phenotype exhibit an uncommon CD56− phenotype, coexisting with CD34+ non-pDC tumor cells, typically in the absence of extramedullary (e.g. skin) disease at presentation. Conversely, patients with a more mature blast cell phenotype more frequently displayed skin/extramedullary involvement and spread into secondary lymphoid tissues. Despite the dismal outcome, acute lymphoblastic leukemia-type therapy (with central nervous system prophylaxis) and/or allogeneic stem cell transplantation appeared to be the only effective therapies. Overall, our findings indicate that the maturational profile of pDC blasts in BPDCN is highly heterogeneous and translates into a wide clinical spectrum -from acute leukemia to mature lymphoma-like behavior-, which may also lead to variable diagnosis and treatment. PMID:26056082

Genetic syndromes associated with overgrowth in childhood

PubMed Central

2013-01-01

Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific overgrowth disorders continue to improve clinicians' ability to make an accurate diagnosis. Among them, this paper introduces two classic genetic overgrowth syndromes: Sotos syndrome and Beckwith-Wiedemann syndrome. Historically, the diagnosis was based entirely on clinical findings. However, it is now understood that Sotos syndrome is caused by a variety of molecular genetic alterations resulting in haploinsufficiency of the NSD1 gene at chromosome 5q35 and that Beckwith-Wiedemann syndrome is caused by heterogeneous abnormalities in the imprinting of a number of growth regulatory genes within chromosome 11p15 in the majority of cases. Interestingly, the 11p15 imprinting region is also associated with Russell-Silver syndrome which is a typical growth retardation syndrome. Opposite epigenetic alterations in 11p15 result in opposite clinical features shown in Beckwith-Wiedemann syndrome and Russell-Silver syndrome. Although the exact functions of the causing genes have not yet been completely understood, these overgrowth syndromes can be good models to clarify the complex basis of human growth and help to develop better-directed therapies in the future. PMID:24904861

Clinical characteristics and HLA alleles of a family with simultaneously occurring alopecia areata.

PubMed

Emre, Selma; Metin, Ahmet; Caykoylu, Ali; Akoglu, Gulsen; Ceylan, Gülay G; Oztekin, Aynure; Col, Esra S

2016-06-01

Alopecia areata (AA) is a T-cell-mediated autoimmune disease resulting in partial or total noncicatricial hair loss. HLA class II antigens are the most important markers that constitute genetic predisposition to AA. Various life events and intense psychological stress may play an important role in triggering AA attacks. We report an unusual case series of 4 family members who had simultaneously occurring active AA lesions. Our aim was to evaluate the clinical and psychiatric features of 4 cases of active AA lesions occurring simultaneously in a family and determine HLA alleles. The clinical and psychological features of all patients were examined. HLA antigen DNA typing was performed by polymerase chain reaction with sequence-specific primers. All patients had typical AA lesions over the scalp and/or beard area. Psychological examinations revealed obsessive-compulsive personality disorder in the proband's parents as well as anxiety and lack of self-confidence in both the proband and his sister. HLA antigen types were not commonly shared with family members. These findings suggest that AA presenting concurrently in members of the same family was not associated with genetic predisposition. Shared psychological disorders and stressful life events might be the major key points in the concurrent presentation of these familial AA cases and development of resistance against treatments.

Is self disturbance the core of borderline personality disorder? An outcome study of borderline personality factors.

PubMed

Meares, Russell; Gerull, Friederike; Stevenson, Janine; Korner, Anthony

2011-03-01

To determine which constellation of clinical features constitutes the core of borderline personality disorder (BPD). The criterion of endurance was used to identify the constellation of features which are most basic, or core, in borderline personality disorder. Two sets of constellations of DSM-III features were tested, each consisting of three groupings. The first set of constellations was constructed according to Clarkin's factor analysis; the second was theoretically derived. Broadly speaking, the three groupings concerned 'self', 'emotional regulation', and 'impulse'. Changes of these constellations were charted over one year in a comparison of the effect of treatment by the Conversational Model (n = 29) with treatment as usual (n = 31). In addition, measures of typical depression (Zung) were scored before and after the treatment period. The changes in the constellations were considered in relation to authoritative opinion. The changes in the two sets of constellations were similar. In the treatment as usual (TAU) group, 'self' endured unchanged, while 'emotional regulation' and 'impulse' improved. In the Conversational Model cohort, 'self' improved, 'emotional regulation' improved more greatly than the TAU group, while 'impulse' improved but not more than the treatment as usual group. Depression scores were not particularly associated with any grouping. A group of features including self/identity disturbance, emptiness and fear of abandonment may be at the core of BPD. Correlations between the three groupings and Zung scores favoured the view that the core affect is not typical depression. Rather, the central state may be 'painful incoherence'. It is suggested that the findings have implications for the refinement and elaboration of treatment methods in borderline personality disorder.

Temperament and Sensory Features of Children with Autism

PubMed Central

Brock, Matthew E.; Freuler, Ashley; Baranek, Grace T.; Watson, Linda R.; Poe, Michele D.; Sabatino, Antoinette

2012-01-01

Purpose This study sought to characterize temperament traits in a sample of children with autism spectrum disorder (ASD), ages 3–7 years old, and to determine the potential association between temperament and sensory features in ASD. Individual differences in sensory processing may form the basis for aspects of temperament and personality, and aberrations in sensory processing may inform why some temperamental traits are characteristic of specific clinical populations. Methods Nine dimensions of temperament from the Behavioral Style Questionnaire (McDevitt & Carey, 1996) were compared among groups of children with ASD (n = 54), developmentally delayed (DD; n = 33), and the original normative sample of typically developing children (Carey & McDevitt, 1978; n = 350) using an ANOVA to determine the extent to which groups differed in their temperament profiles. The hypothesized overlap between three dimensional constructs of sensory features (hyperresponsiveness, hyporesponsivness, and seeking) and the nine dimensions of temperament was analyzed in children with ASD using regression analyses. Results The ASD group displayed temperament scores distinct from norms for typically developing children on most dimensions of temperament (activity, rhythmicity, adaptability, approach, distractibility, intensity, persistence, and threshold) but differed from the DD group on only two dimensions (approach and distractibility). Analyses of associations between sensory constructs and temperament dimensions found that sensory hyporesponsiveness was associated with slowness to adapt, low reactivity, and low distractibility; a combination of increased sensory features (across all three patterns) was associated with increased withdrawal and more negative mood. Conclusions Although most dimensions of temperament distinguished children with ASD as a group, not all dimensions appear equally associated with sensory response patterns. Shared mechanisms underlying sensory responsiveness, temperament, and social withdrawal may be fruitful to explore in future studies. PMID:22366913

Is hypertension predictive of clinical recurrence in posterior reversible encephalopathy syndrome?

PubMed

Li, Richard; Mitchell, Peter; Dowling, Richard; Yan, Bernard

2013-02-01

Posterior reversible encephalopathy syndrome (PRES) has a distinctive clinical presentation and typical neuroimaging findings. However, data on its clinical course and recurrence are scarce. This study aims to investigate its clinical profile and factors that predict recurrence. We included patients diagnosed with PRES between 2005 and 2010 and collected data on demographics, presenting symptoms, co-morbidities, risk factors, clinical parameters, MRI findings, complications and recurrence. Patients were categorized into two groups: PRES due to primary hypertension and PRES due to secondary causes. Correlation with presenting symptoms, radiological features, and recurrence were analyzed. PRES was identified in 28 patients. Fourteen (50%) had primary hypertension. Secondary causes included immunosuppression-related (39%), preeclampsia/eclampsia (7%), and marijuana-intake-related (4%) causes. Patients presented with altered mental status (79%), headache (75%), seizure (68%), visual disturbance (39%) and hemiparesis (21%). On MRI 93% had the typical parietal-occipital involvement. The frontal lobe was affected in 64%, cerebellum in 29%, brainstem in 21%, and basal ganglia in 11%. About 36% had cortical involvement; 21% had diffusion-restricted lesions. Non-aneurysmal subarachnoid haemorrhage was found in 18% of patients and intracerebral hemorrhage in 14% of patients. No significant difference existed in presenting symptoms and the MRI distribution of vasogenic edema between the primary hypertension group and the secondary causes group. Recurrence occurred in four patients (14.3%, 95% confidence interval 4.2-33.7) and was significantly associated (p=0.05) with primary hypertension as the etiology. Intensive monitoring and treatment of hypertension is recommended for reducing morbidity. Copyright © 2012 Elsevier Ltd. All rights reserved.

Tuberculosis in Pap samples with emphasis on LBC: Caught only when thought.

PubMed

Bharani, Vani; Gupta, Nalini; Suri, Vanita; Rajwanshi, Arvind

2018-05-01

Despite being a commonly encountered infection, the clinical diagnosis of tuberculosis of the uterine cervix is elusive. Though a straightforward diagnosis on tissue sections, identification of typical features of tubercular infection on cervical Pap samples is challenging. In our experience, the infrequent pale staining collections of epithelioid cells are difficult to pick up on Pap stained smears, particularly LBC samples. In this series, 2 of the three samples were reported as atypical squamous cells of undetermined significance while 1 was reported as inflammatory at the initial diagnosis. Scattered Langhans' type giant cells may be seen as a subtle clue which should prompt the search for epithelioid cell granulomas. These cases may have a mass lesion clinically while no obvious signs of malignancy on the cervical samples. © 2017 Wiley Periodicals, Inc.

[Acute alveolitis after using a waterproofing aerosol: apropos of 2 cases].

PubMed

Testud, F; Gabrielle, L; Paquin, M L; Descotes, J

1998-04-01

Waterproofing sprays for leather clothing have seldom been involved in severe accidents. In some circumstances, their pulmonary toxicity is marked, as shown by two case reports and a review of the literature. Acute alveolitis is described in two young adults without previous respiratory illness, following the use of a waterproofing spray for leather clothing. Clinical features typical of a flu-like reaction (malaise, fever and chills) were associated with dyspnea and with hemoptysis in one patient. X-ray examination evidenced lesional edema which quickly resolved after symptomatic treatment. The toxic mechanism is debated, but experimental data and clinical findings suggest the causative role of recently introduced fluoropolymers. Waterproofing sprays for leather clothing may induce severe respiratory illness after massive inhalation in confined area. Treatment is supportive.

[Clinical analysis of lower limb thrombosis caused by paraquat poisoning].

PubMed

Yu, L J; Jian, X D; Zhang, Z C; Ren, Y L; Ning, Q; Wang, K; Gao, B J; Jia, J E

2018-01-20

Objective: To investigate the causes of peripheral vascular thrombosis in patients with paraquat poisoning. Methods: The patients with paraquat poisoning who were admitted to our department in recent two years were observed to screen out the patients with large vessel thrombosis. The data on toxic exposure history, clinical features, and treatment were collected to analyze the causes of thrombosis in the patients with paraquat poisoning. Results: Three patients had typical lower limb thrombosis. There was one case of right common femoral vein thrombosis, one case of bilateral calf muscle vein thrombosis, and one case of right calf superficial vein thrombosis and right calf muscle vein thrombosis. Conclusions: After paraquat poisoning, the blood is in a hypercoagulable state and prolonged bed rest may increase the risk of thrombosis.

Radiology of pneumonia.

PubMed

Gharib, A M; Stern, E J

2001-11-01

Infection of the lower respiratory tract, acquired by way of the airways and confined to the lung parenchyma and airways, typically presents radiologically as one of three patterns: (1) focal nonsegmental or lobar pneumonia, (2) multifocal bronchopneumonia or lobular pneumonia, and (3) focal or diffuse "interstitial" pneumonia. These patterns can be useful in identifying the etiological organism in the appropriate clinical setting. To serve the purpose of this article, these patterns are used as the primary method of classification of pulmonary infections caused by different organisms. Mycobacterial and fungal pulmonary infections are reviewed separately because of their wide range of radiographic appearance that depend on the stage of the disease at presentation. This article discusses the clinical and radiographic features of the most common causes of pneumonia, primarily in the adult population of the United States.

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.

Training Strategies for Mitigating the Effect of Proportional Control on Classification in Pattern Recognition Based Myoelectric Control

PubMed Central

Scheme, Erik; Englehart, Kevin

2013-01-01

The performance of pattern recognition based myoelectric control has seen significant interest in the research community for many years. Due to a recent surge in the development of dexterous prosthetic devices, determining the clinical viability of multifunction myoelectric control has become paramount. Several factors contribute to differences between offline classification accuracy and clinical usability, but the overriding theme is that the variability of the elicited patterns increases greatly during functional use. Proportional control has been shown to greatly improve the usability of conventional myoelectric control systems. Typically, a measure of the amplitude of the electromyogram (a rectified and smoothed version) is used to dictate the velocity of control of a device. The discriminatory power of myoelectric pattern classifiers, however, is also largely based on amplitude features of the electromyogram. This work presents an introductory look at the effect of contraction strength and proportional control on pattern recognition based control. These effects are investigated using typical pattern recognition data collection methods as well as a real-time position tracking test. Training with dynamically force varying contractions and appropriate gain selection is shown to significantly improve (p<0.001) the classifier’s performance and tolerance to proportional control. PMID:23894224

[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.

Recurrence of non-cardiogenic pulmonary edema and sustained hypotension shock in cystic pheochromocytoma*#

PubMed Central

Dai, Jin; Chen, Shen-jie; Yang, Bing-sheng; Lü, Shu-min; Zhu, Min; Xu, Yi-fei; Chen, Jie; Cai, Hong-wen; Mao, Wei

2017-01-01

Pheochromocytoma is a rare neuroendocrine tumor which derives from chromaffin cells of the adrenal gland or relevant to sympathetic nerves and ganglia. The clinical features of pheochromocytoma are various. Paroxysmal episodes of serious hypertension, headache, palpitation, and diaphoresis are the typical manifestations (Bravo, 2004). Hypotension shock, pulmonary edema, and acute coronary syndrome induced by pheochromocytoma are uncommon (Malindretos et al., 2008; Batisse-Lignier et al., 2015). In this study, we present a rare case of cystic pheochromocytoma causing recurrent hypotension shock, non-cardiogenic pulmonary edema, and acute coronary syndrome, and the possible mechanisms are discussed. PMID:28471119

Recurrence of non-cardiogenic pulmonary edema and sustained hypotension shock in cystic pheochromocytoma.

PubMed

Dai, Jin; Chen, Shen-Jie; Yang, Bing-Sheng; Lü, Shu-Min; Zhu, Min; Xu, Yi-Fei; Chen, Jie; Cai, Hong-Wen; Mao, Wei

2017-05-01

Pheochromocytoma is a rare neuroendocrine tumor which derives from chromaffin cells of the adrenal gland or relevant to sympathetic nerves and ganglia. The clinical features of pheochromocytoma are various. Paroxysmal episodes of serious hypertension, headache, palpitation, and diaphoresis are the typical manifestations (Bravo, 2004). Hypotension shock, pulmonary edema, and acute coronary syndrome induced by pheochromocytoma are uncommon (Malindretos et al., 2008; Batisse-Lignier et al., 2015). In this study, we present a rare case of cystic pheochromocytoma causing recurrent hypotension shock, non-cardiogenic pulmonary edema, and acute coronary syndrome, and the possible mechanisms are discussed.

Fat Embolism Syndrome: A Case Report and Review Literature.

PubMed

Uransilp, Nattaphol; Muengtaweepongsa, Sombat; Chanalithichai, Nuttawut; Tammachote, Nattapol

2018-01-01

Fat embolism syndrome (FES) is a life-threatening complication in patients with orthopedic trauma, especially long bone fractures. The diagnosis of fat embolism is made by clinical features alone with no specific laboratory findings. FES has no specific treatment and requires supportive care, although it can be prevented by early fixation of bone fractures. Here, we report a case of FES in a patient with right femoral neck fracture, which was diagnosed initially by Gurd's criteria and subsequently confirmed by typical appearances on magnetic resonance imaging (MRI) of the brain. The patient received supportive management and a short course of intravenous methylprednisolone.

Retinitis pigmentosa and congenital toxoplasmosis: a rare coexistence.

PubMed

Chhabra, Manpreet S; Prakash, Gunjan; Vashisht, Nagender; Garg, S P

2007-01-01

We describe a previously unreported co-existence of retinitis pigmentosa and congenital toxoplasmosis. An eight year old male presented to our center with complaints of decreased night vision. Fundus evaluations in both the eyes demonstrated features typical of retinitis pigmentosa. There were well-defined punched out healed chorio-retinal scars suggestive of congenital toxoplasmosis. On the basis of history, clinical findings and reduction of a and b wave amplitudes on scotopic and photopic electroretinograph, a diagnosis of retinitis pigmentosa with congenital toxoplasmosis was made. Retinitis pigmentosa may co-exist with congenital toxoplasmosis that may affect the patient's overall ocular morbidity and visual acuity.

Anesthesia-induced epilepsy: causes and treatment.

PubMed

Zhao, Xiaojuan; Wang, Xuefeng

2014-09-01

Epilepsy is a type of chronic brain disease that results from an abnormally high synchronization of neuronal discharge. The typical clinical features of epilepsy are paroxysms and transient and stereotyped brain dysfunction. Many cases of epileptic seizures occurring during anesthesia have been reportedx. Recently, risk assessment of epileptic seizures during surgery and anesthesia has gained increasing attention. In this review, we systematically summarize the influence of anesthesia on epileptic seizures; the types, durations and frequencies of seizures related to anesthesia; and the epidemiology, prevention, treatment and prognosis of epilepsy. We also explore the possible mechanism of epilepsy and provide guidance for anesthesia during surgeries.

[Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome].

PubMed

Zheng, Jiemei; Liu, Zhiying; Xia, Pei; Lai, Yi; Wei, Yangjun; Liu, Yanyan; Chen, Jiurong; Qin, Li; Xie, Liangyu; Wang, He

2017-02-10

To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome. 607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed. Among the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39.54%), which included 194 (80.83%) with a low proportion of 45,X (3 ≤ the number of 45, X ≤5, while the normal cells ≥ 30). Structural X chromosome abnormalities were found in 173 patients (28.50%). A supernumerary marker chromosome was found in 40 cases (6.59%). Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45,X, 46,X,i(X)(q10) and mos45,X/46,X,i(X)(q10), which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome. Generally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.

[Classification of Children with Attention-Deficit/Hyperactivity Disorder and Typically Developing Children Based on Electroencephalogram Principal Component Analysis and k-Nearest Neighbor].

PubMed

Yang, Jiaojiao; Guo, Qian; Li, Wenjie; Wang, Suhong; Zou, Ling

2016-04-01

This paper aims to assist the individual clinical diagnosis of children with attention-deficit/hyperactivity disorder using electroencephalogram signal detection method.Firstly,in our experiments,we obtained and studied the electroencephalogram signals from fourteen attention-deficit/hyperactivity disorder children and sixteen typically developing children during the classic interference control task of Simon-spatial Stroop,and we completed electroencephalogram data preprocessing including filtering,segmentation,removal of artifacts and so on.Secondly,we selected the subset electroencephalogram electrodes using principal component analysis(PCA)method,and we collected the common channels of the optimal electrodes which occurrence rates were more than 90%in each kind of stimulation.We then extracted the latency(200~450ms)mean amplitude features of the common electrodes.Finally,we used the k-nearest neighbor(KNN)classifier based on Euclidean distance and the support vector machine(SVM)classifier based on radial basis kernel function to classify.From the experiment,at the same kind of interference control task,the attention-deficit/hyperactivity disorder children showed lower correct response rates and longer reaction time.The N2 emerged in prefrontal cortex while P2 presented in the inferior parietal area when all kinds of stimuli demonstrated.Meanwhile,the children with attention-deficit/hyperactivity disorder exhibited markedly reduced N2 and P2amplitude compared to typically developing children.KNN resulted in better classification accuracy than SVM classifier,and the best classification rate was 89.29%in StI task.The results showed that the electroencephalogram signals were different in the brain regions of prefrontal cortex and inferior parietal cortex between attention-deficit/hyperactivity disorder and typically developing children during the interference control task,which provided a scientific basis for the clinical diagnosis of attention-deficit/hyperactivity disorder individuals.

Ocular toxoplasmosis II: clinical features, pathology and management.

PubMed

Butler, Nicholas J; Furtado, João M; Winthrop, Kevin L; Smith, Justine R

2013-01-01

The term, ocular toxoplasmosis, refers to eye disease related to infection with the parasite, Toxoplasma gondii. Recurrent posterior uveitis is the typical form of this disease, characterized by unilateral, necrotizing retinitis with secondary choroiditis, occurring adjacent to a pigmented retinochoroidal scar and associated with retinal vasculitis and vitritis. Multiple atypical presentations are also described, and severe inflammation is observed in immunocompromised patients. Histopathological correlations demonstrate focal coagulative retinal necrosis, and early in the course of the disease, this inflammation is based in the inner retina. For typical ocular toxoplasmosis, a diagnosis is easily made on clinical examination. In atypical cases, ocular fluid testing to detect parasite DNA by polymerase chain reaction or to determine intraocular production of specific antibody may be extremely helpful for establishing aetiology. Given the high seroprevalence of toxoplasmosis in most communities, serological testing for T. gondii antibodies is generally not useful. Despite a lack of published evidence for effectiveness of current therapies, most ophthalmologists elect to treat patients with ocular toxoplasmosis that reduces or threatens to impact vision. Classic therapy consists of oral pyrimethamine and sulfadiazine, plus systemic corticosteroid. Substantial toxicity of this drug combination has spurred interest in alternative antimicrobials, as well as local forms of drug delivery. At this time, however, no therapeutic approach is curative of ocular toxoplasmosis. © 2012 The Authors. Clinical and Experimental Ophthalmology © 2012 Royal Australian and New Zealand College of Ophthalmologists.

In Search of Commonalities: Some Linguistic and Rhetorical Features of Business Reports as a Genre

ERIC Educational Resources Information Center

Yeung, Lorrita

2007-01-01

The present study analyzes 22 authentic business reports in an attempt to identify textual features that are typical of business reports as a genre. The analysis shows that there are certain characteristics which distinguish business reports from other related genres such as scientific reports, of which RAs are a typical example. There are also…

Inverse optimization of objective function weights for treatment planning using clinical dose-volume histograms

NASA Astrophysics Data System (ADS)

Babier, Aaron; Boutilier, Justin J.; Sharpe, Michael B.; McNiven, Andrea L.; Chan, Timothy C. Y.

2018-05-01

We developed and evaluated a novel inverse optimization (IO) model to estimate objective function weights from clinical dose-volume histograms (DVHs). These weights were used to solve a treatment planning problem to generate ‘inverse plans’ that had similar DVHs to the original clinical DVHs. Our methodology was applied to 217 clinical head and neck cancer treatment plans that were previously delivered at Princess Margaret Cancer Centre in Canada. Inverse plan DVHs were compared to the clinical DVHs using objective function values, dose-volume differences, and frequency of clinical planning criteria satisfaction. Median differences between the clinical and inverse DVHs were within 1.1 Gy. For most structures, the difference in clinical planning criteria satisfaction between the clinical and inverse plans was at most 1.4%. For structures where the two plans differed by more than 1.4% in planning criteria satisfaction, the difference in average criterion violation was less than 0.5 Gy. Overall, the inverse plans were very similar to the clinical plans. Compared with a previous inverse optimization method from the literature, our new inverse plans typically satisfied the same or more clinical criteria, and had consistently lower fluence heterogeneity. Overall, this paper demonstrates that DVHs, which are essentially summary statistics, provide sufficient information to estimate objective function weights that result in high quality treatment plans. However, as with any summary statistic that compresses three-dimensional dose information, care must be taken to avoid generating plans with undesirable features such as hotspots; our computational results suggest that such undesirable spatial features were uncommon. Our IO-based approach can be integrated into the current clinical planning paradigm to better initialize the planning process and improve planning efficiency. It could also be embedded in a knowledge-based planning or adaptive radiation therapy framework to automatically generate a new plan given a predicted or updated target DVH, respectively.

Inverse optimization of objective function weights for treatment planning using clinical dose-volume histograms.

PubMed

Babier, Aaron; Boutilier, Justin J; Sharpe, Michael B; McNiven, Andrea L; Chan, Timothy C Y

2018-05-10

We developed and evaluated a novel inverse optimization (IO) model to estimate objective function weights from clinical dose-volume histograms (DVHs). These weights were used to solve a treatment planning problem to generate 'inverse plans' that had similar DVHs to the original clinical DVHs. Our methodology was applied to 217 clinical head and neck cancer treatment plans that were previously delivered at Princess Margaret Cancer Centre in Canada. Inverse plan DVHs were compared to the clinical DVHs using objective function values, dose-volume differences, and frequency of clinical planning criteria satisfaction. Median differences between the clinical and inverse DVHs were within 1.1 Gy. For most structures, the difference in clinical planning criteria satisfaction between the clinical and inverse plans was at most 1.4%. For structures where the two plans differed by more than 1.4% in planning criteria satisfaction, the difference in average criterion violation was less than 0.5 Gy. Overall, the inverse plans were very similar to the clinical plans. Compared with a previous inverse optimization method from the literature, our new inverse plans typically satisfied the same or more clinical criteria, and had consistently lower fluence heterogeneity. Overall, this paper demonstrates that DVHs, which are essentially summary statistics, provide sufficient information to estimate objective function weights that result in high quality treatment plans. However, as with any summary statistic that compresses three-dimensional dose information, care must be taken to avoid generating plans with undesirable features such as hotspots; our computational results suggest that such undesirable spatial features were uncommon. Our IO-based approach can be integrated into the current clinical planning paradigm to better initialize the planning process and improve planning efficiency. It could also be embedded in a knowledge-based planning or adaptive radiation therapy framework to automatically generate a new plan given a predicted or updated target DVH, respectively.

Development of a novel imaging informatics-based system with an intelligent workflow engine (IWEIS) to support imaging-based clinical trials

PubMed Central

Wang, Ximing; Liu, Brent J; Martinez, Clarisa; Zhang, Xuejun; Winstein, Carolee J

2015-01-01

Imaging based clinical trials can benefit from a solution to efficiently collect, analyze, and distribute multimedia data at various stages within the workflow. Currently, the data management needs of these trials are typically addressed with custom-built systems. However, software development of the custom- built systems for versatile workflows can be resource-consuming. To address these challenges, we present a system with a workflow engine for imaging based clinical trials. The system enables a project coordinator to build a data collection and management system specifically related to study protocol workflow without programming. Web Access to DICOM Objects (WADO) module with novel features is integrated to further facilitate imaging related study. The system was initially evaluated by an imaging based rehabilitation clinical trial. The evaluation shows that the cost of the development of system can be much reduced compared to the custom-built system. By providing a solution to customize a system and automate the workflow, the system will save on development time and reduce errors especially for imaging clinical trials. PMID:25870169

Analyzing the "CareGap": assessing gaps in adherence to clinical guidelines in adult soft tissue sarcoma.

PubMed

Waks, Zeev; Goldbraich, Esther; Farkash, Ariel; Torresani, Michele; Bertulli, Rossella; Restifo, Nicola; Locatelli, Paolo; Casali, Paolo; Carmeli, Boaz

2013-01-01

Clinical decision support systems (CDSSs) are gaining popularity as tools that assist physicians in optimizing medical care. These systems typically comply with evidence-based medicine and are designed with input from domain experts. Nonetheless, deviations from CDSS recommendations are abundant across a broad spectrum of disorders, raising the question as to why this phenomenon exists. Here, we analyze this gap in adherence to a clinical guidelines-based CDSS by examining the physician treatment decisions for 1329 adult soft tissue sarcoma patients in northern Italy using patient-specific parameters. Dubbing this analysis "CareGap", we find that deviations correlate strongly with certain disease features such as local versus metastatic clinical presentation. We also notice that deviations from the guideline-based CDSS suggestions occur more frequently for patients with shorter survival time. Such observations can direct physicians' attention to distinct patient cohorts that are prone to higher deviation levels from clinical practice guidelines. This illustrates the value of CareGap analysis in assessing quality of care for subsets of patients within a larger pathology.

[The Outpatient Clinic for Adolescent Risk-taking and Self-harm behaviors (AtR!Sk) - A Pioneering Approach of Outpatient Early Detection and Intervention of Borderline Personality Disorder].

PubMed

Kaess, Michael; Ghinea, Denisa; Fischer-Waldschmidt, Gloria; Resch, Franz

2017-07-01

The Outpatient Clinic for Adolescent Risk-taking and Self-harm behaviors (AtR!Sk) - A Pioneering Approach of Outpatient Early Detection and Intervention of Borderline Personality Disorder Self-harm and risk-taking behaviors are frequently occurring problems in adolescents' everyday life and commonly challenge the present child and adolescent health-care system. Those behaviors are typical features of borderline-personality disorder (BPD), a severe mental disorder that is associated with immense psychological strain, increased risk of mortality and poor psychosocial functioning. Despite controversy in the past, recent evidence shows that BPD is a valid and reliable diagnosis in adolescence. Consequently, specified and effective intervention programs for this age group are necessary. Instead, present health-care services for children and adolescents in Germany are usually characterized by long waiting periods for specialized outpatient treatments and unnecessary expanses of unnecessary long inpatient stays. Alternatively, and in order to prevent serious long-term consequences, new concepts - integrated in an ambulatory setting and close to patients' daily routines - should focus on early detection and treatment of adolescents at-risk presenting with borderline personality features. The specialist outpatient clinic AtR!Sk at the University Hospital Heidelberg ensures a low-threshold initial contact service, comprehensive and accurate diagnosis of BPD features, and rapidly "tailored" therapy for young people presenting with any types of risk-taking and self-harm behavior. AtR!Sk - as a pioneering approach in south Germany - provides evidence-based early detection and intervention for adolescent BPD.

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

PubMed

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

2015-01-01

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

Intramuscular preparations of antipsychotics: uses and relevance in clinical practice.

PubMed

Altamura, A Cario; Sassella, Francesca; Santini, Annalisa; Montresor, Clauno; Fumagalli, Sara; Mundo, Emanuela

2003-01-01

Intramuscular formulations of antipsychotics can be sub-divided into two groups on the basis of their pharmacokinetic features: short-acting preparations and long-acting or depot preparations. Short-acting intramuscular formulations are used to manage acute psychotic episodes. On the other hand, long-acting compounds, also called "depot", are administered as antipsychotic maintenance treatment to ensure compliance and to eliminate bioavailability problems related to absorption and first pass metabolism. Adverse effects of antipsychotics have been studied with particular respect to oral versus short- and long-acting intramuscular formulations of the different compounds. For short-term intramuscular preparations the main risk with classical compounds are hypotension and extrapyramidal side effects (EPS). Data on the incidence of EPS with depot formulations are controversial: some studies point out that the incidence of EPS is significantly higher in patients receiving depot preparations, whereas others show no difference between oral and depot antipsychotics. Studies on the strategies for switching patients from oral to depot treatment suggest that this procedure is reasonably well tolerated, so that in clinical practice depot antipsychotic therapy is usually begun while the oral treatment is still being administered, with gradual tapering of the oral dose. Efficacy, pharmacodynamics and clinical pharmacokinetics of haloperidol decanoate, fluphenazine enanthate and decanoate, clopenthixol decanoate, zuclopenthixol decanoate and acutard, flupenthixol decanoate, perphenazine enanthate, pipothiazine palmitate and undecylenate, and fluspirilene are reviewed. In addition, the intramuscular preparations of atypical antipsychotics and clinical uses are reviewed. Olanzapine and ziprasidone are available only as short-acting preparations, while risperidone is to date the only novel antipsychotic available as depot formulation. To date, acutely ill, agitated psychotic patients have been treated with high parenteral doses of typical antipsychotics, which often cause serious EPS, especially dystonic reactions. Intramuscular formulations of novel antipsychotics (olanzapine and ziprasidone), which appear to have a better tolerability profile than typical compounds, showed an equivalent efficacy to parenteral typical agents in the acute treatment of psychoses. However, parenteral or depot formulations of atypical antipsychotics are not yet widely available.

Persistence of psychosis spectrum symptoms in the Philadelphia Neurodevelopmental Cohort: a prospective two‐year follow‐up

PubMed Central

Calkins, Monica E.; Moore, Tyler M.; Satterthwaite, Theodore D.; Wolf, Daniel H.; Turetsky, Bruce I.; Roalf, David R.; Merikangas, Kathleen R.; Ruparel, Kosha; Kohler, Christian G.; Gur, Ruben C.; Gur, Raquel E.

2017-01-01

Prospective evaluation of youths with early psychotic‐like experiences can enrich our knowledge of clinical, biobehavioral and environmental risk and protective factors associated with the development of psychotic disorders. We aimed to investigate the predictors of persistence or worsening of psychosis spectrum features among US youth through the first large systematic study to evaluate subclinical symptoms in the community. Based on Time 1 screen of 9,498 youth (age 8‐21) from the Philadelphia Neurodevelopmental Cohort, a subsample of participants was enrolled based on the presence (N=249) or absence (N=254) of baseline psychosis spectrum symptoms, prior participation in neuroimaging, and current neuroimaging eligibility. They were invited to participate in a Time 2 assessment two years on average following Time 1. Participants were administered the Structured Interview for Prodromal Syndromes, conducted blind to initial screen status, along with the Schizotypal Personality Questionnaire and other clinical measures, computerized neurocognitive testing, and neuroimaging. Clinical and demographic predictors of symptom persistence were examined using logistic regression. At Time 2, psychosis spectrum features persisted or worsened in 51.4% of youths. Symptom persistence was predicted by higher severity of subclinical psychosis, lower global functioning, and prior psychiatric medication at baseline. Youths classified as having psychosis spectrum symptoms at baseline but not at follow‐up nonetheless exhibited comparatively higher symptom levels and lower functioning at both baseline and follow‐up than typically developing youths. In addition, psychosis spectrum features emerged in a small number of young people who previously had not reported significant symptoms but who had exhibited early clinical warning signs. Together, our findings indicate that varying courses of psychosis spectrum symptoms are evident early in US youth, supporting the importance of investigating psychosis risk as a dynamic developmental process. Neurocognition, brain structure and function, and genomics may be integrated with clinical data to provide early indices of symptom persistence and worsening in youths at risk for psychosis. PMID:28127907

Joint Facial Action Unit Detection and Feature Fusion: A Multi-conditional Learning Approach.

PubMed

Eleftheriadis, Stefanos; Rudovic, Ognjen; Pantic, Maja

2016-10-05

Automated analysis of facial expressions can benefit many domains, from marketing to clinical diagnosis of neurodevelopmental disorders. Facial expressions are typically encoded as a combination of facial muscle activations, i.e., action units. Depending on context, these action units co-occur in specific patterns, and rarely in isolation. Yet, most existing methods for automatic action unit detection fail to exploit dependencies among them, and the corresponding facial features. To address this, we propose a novel multi-conditional latent variable model for simultaneous fusion of facial features and joint action unit detection. Specifically, the proposed model performs feature fusion in a generative fashion via a low-dimensional shared subspace, while simultaneously performing action unit detection using a discriminative classification approach. We show that by combining the merits of both approaches, the proposed methodology outperforms existing purely discriminative/generative methods for the target task. To reduce the number of parameters, and avoid overfitting, a novel Bayesian learning approach based on Monte Carlo sampling is proposed, to integrate out the shared subspace. We validate the proposed method on posed and spontaneous data from three publicly available datasets (CK+, DISFA and Shoulder-pain), and show that both feature fusion and joint learning of action units leads to improved performance compared to the state-of-the-art methods for the task.

Multiclass Classification for the Differential Diagnosis on the ADHD Subtypes Using Recursive Feature Elimination and Hierarchical Extreme Learning Machine: Structural MRI Study

PubMed Central

Qureshi, Muhammad Naveed Iqbal; Min, Beomjun; Jo, Hang Joon; Lee, Boreom

2016-01-01

The classification of neuroimaging data for the diagnosis of certain brain diseases is one of the main research goals of the neuroscience and clinical communities. In this study, we performed multiclass classification using a hierarchical extreme learning machine (H-ELM) classifier. We compared the performance of this classifier with that of a support vector machine (SVM) and basic extreme learning machine (ELM) for cortical MRI data from attention deficit/hyperactivity disorder (ADHD) patients. We used 159 structural MRI images of children from the publicly available ADHD-200 MRI dataset. The data consisted of three types, namely, typically developing (TDC), ADHD-inattentive (ADHD-I), and ADHD-combined (ADHD-C). We carried out feature selection by using standard SVM-based recursive feature elimination (RFE-SVM) that enabled us to achieve good classification accuracy (60.78%). In this study, we found the RFE-SVM feature selection approach in combination with H-ELM to effectively enable the acquisition of high multiclass classification accuracy rates for structural neuroimaging data. In addition, we found that the most important features for classification were the surface area of the superior frontal lobe, and the cortical thickness, volume, and mean surface area of the whole cortex. PMID:27500640

Multiclass Classification for the Differential Diagnosis on the ADHD Subtypes Using Recursive Feature Elimination and Hierarchical Extreme Learning Machine: Structural MRI Study.

PubMed

Qureshi, Muhammad Naveed Iqbal; Min, Beomjun; Jo, Hang Joon; Lee, Boreom

2016-01-01

The classification of neuroimaging data for the diagnosis of certain brain diseases is one of the main research goals of the neuroscience and clinical communities. In this study, we performed multiclass classification using a hierarchical extreme learning machine (H-ELM) classifier. We compared the performance of this classifier with that of a support vector machine (SVM) and basic extreme learning machine (ELM) for cortical MRI data from attention deficit/hyperactivity disorder (ADHD) patients. We used 159 structural MRI images of children from the publicly available ADHD-200 MRI dataset. The data consisted of three types, namely, typically developing (TDC), ADHD-inattentive (ADHD-I), and ADHD-combined (ADHD-C). We carried out feature selection by using standard SVM-based recursive feature elimination (RFE-SVM) that enabled us to achieve good classification accuracy (60.78%). In this study, we found the RFE-SVM feature selection approach in combination with H-ELM to effectively enable the acquisition of high multiclass classification accuracy rates for structural neuroimaging data. In addition, we found that the most important features for classification were the surface area of the superior frontal lobe, and the cortical thickness, volume, and mean surface area of the whole cortex.

Feature Inference Learning and Eyetracking

ERIC Educational Resources Information Center

Rehder, Bob; Colner, Robert M.; Hoffman, Aaron B.

2009-01-01

Besides traditional supervised classification learning, people can learn categories by inferring the missing features of category members. It has been proposed that feature inference learning promotes learning a category's internal structure (e.g., its typical features and interfeature correlations) whereas classification promotes the learning of…

Diagnosis and management of traumatic cervical central spinal cord injury: A review.

PubMed

Epstein, Nancy E; Hollingsworth, Renee

2015-01-01

The classical clinical presentation, neuroradiographic features, and conservative vs. surgical management of traumatic cervical central spinal cord (CSS) injury remain controversial. CSS injuries, occurring in approximately 9.2% of all cord injuries, are usually attributed to significant hyperextension trauma combined with congenital/acquired cervical stenosis/spondylosis. Patients typically present with greater motor deficits in the upper vs. lower extremities accompanied by patchy sensory loss. T2-weighted magnetic resonance (MR) scans usually show hyperintense T2 intramedullary signals reflecting acute edema along with ligamentous injury, while noncontrast computed tomography (CT) studies typically show no attendant bony pathology (e.g. no fracture, dislocation). CSS constitute only a small percentage of all traumatic spinal cord injuries. Aarabi et al. found CSS patients averaged 58.3 years of age, 83% were male and 52.4% involved accidents/falls in patients with narrowed spinal canals (average 5.6 mm); their average American Spinal Injury Association (ASIA) motor score was 63.8, and most pathology was at the C3-C4 and C4-C5 levels (71%). Surgery was performed within 24 h (9 patients), 24-48 h (10 patients), or after 48 h (23 patients). In the Brodell et al. study of 16,134 patients with CSS, 39.7% had surgery. In the Gu et al. series, those with CSS and stenosis/ossification of the posterior longitudinal ligament (OPLL) exhibited better outcomes following laminoplasty. Recognizing the unique features of CSS is critical, as the clinical, neuroradiological, and management strategies (e.g. conservative vs. surgical management: early vs. late) differ from those utilized for other spinal cord trauma. Increased T2-weighted MR images best document CSS, while CT studies confirm the absence of fracture/dislocation.

Early Generalized Overgrowth in Boys With Autism

PubMed Central

Chawarska, Katarzyna; Campbell, Daniel; Chen, Lisha; Shic, Frederick; Klin, Ami; Chang, Joseph

2016-01-01

Context Multiple studies have reported an overgrowth in head circumference (HC) in the first year of life in autism. However, it is unclear whether this phenomenon is independent of overall body growth and whether it is associated with specific social or cognitive features. Objectives To examine the trajectory of early HC growth in autism compared with control groups; to assess whether HC growth in autism is independent of height and weight growth during infancy; and to examine HC growth from birth to 24 months in relationship to social, verbal, cognitive, and adaptive functioning levels. Design Retrospective study. Setting A specialized university-based clinic. Participants Boys diagnosed as having autistic disorder (n=64), pervasive developmental disorder–not otherwise specified (n=34), global developmental delay (n=13), and other developmental problems (n=18) and typically developing boys (n=55). Main Outcome Measures Age-related changes in HC, height, and weight between birth and age 24 months; measures of social, verbal, and cognitive functioning at age 2 years. Results Compared with typically developing controls, boys with autism were significantly longer by age 4.8 months, had a larger HC by age 9.5 months, and weighed more by age 11.4 months (P=.05 for all). None of the other clinical groups showed a similar overgrowth pattern. Boys with autism who were in the top 10% of overall physical size in infancy exhibited greater severity of social deficits (P=.009) and lower adaptive functioning (P=.03). Conclusions Boys with autism experienced accelerated HC growth in the first year of life. However, this phenomenon reflected a generalized process affecting other morphologic features, including height and weight. The study highlights the importance of studying factors that influence not only neuronal development but also skeletal growth in autism. PMID:21969460

Evaluation of tibial osteopathy occurrence in neurofibromatosis type 1 Italian patients.

PubMed

Morcaldi, Guido; Clementi, Maurizio; Lama, Giuliana; Gabrielli, Orazio; Vannelli, Silvia; Virdis, Raffaele; Vivarelli, Rossella; Boero, Silvio; Bonioli, Eugenio

2013-05-01

Neurofibromatosis Type 1 (NF1) is a common autosomal dominant disorder characterized by high penetrance, widely variable expressivity and occurrence of specific skeletal changes such as tibial osteopathy (TO). We collected data on patients referred to the Italian Neurofibromatosis Study Group in order to compare clinical features between 49 NF1 patients with TO, and 98 age-matched NF1 patients without TO, and to determine whether the presence of TO is associated with a different risk of developing the typical NF1 complications. We assessed both groups for: age at diagnosis of NF1, gender distribution, family history, gender inheritance, presence of scoliosis, sphenoid wing osteopathy, other skeletal abnormalities, macrocrania, hydrocephalus, plexiform neurofibromas, tumors, optic pathway gliomas, T2H (high-signal intensity areas on T2 weighted brain MRI), epilepsy, headache, mental retardation, cardiovascular malformations, and Noonan phenotype. Patients of both groups were subdivided by gender and re-evaluated for these items. Statistical comparison was carried out between the two groups of patients for each feature. We collected data on type of treatment and on the clinical conditions of NF1-TO patients after follow-up. Patient's age at NF1 diagnosis was significantly younger in NF1-TO subjects compared with NF1 subjects without TO, and the incidence of T2H was significantly reduced in NF1-TO males compared with NF1 males without TO. The presence of TO does not imply that there is an increased risk of developing typical complications of NF1 (e.g., optic pathway glioma, plexiform neurofibroma, etc.), however, it does allow us to make an earlier diagnosis of NF1. Copyright © 2012 Wiley Periodicals, Inc.

Seizure semiology and electroencephalography in young children with lesional temporal lobe epilepsy.

PubMed

Lv, Rui-Juan; Sun, Zhen-Rong; Cui, Tao; Shao, Xiao-Qiu

2014-02-01

This study aimed to discuss the clinical features of seizure semiology and electroencephalography (EEG) in young children with lesional temporal lobe epilepsy (TLE). Children with lesional TLE received presurgical evaluation for intractable epilepsy. They were followed up for more than one year after temporal lobectomy. We reviewed the medical history and video-EEG monitoring of children with TLE to analyze the semiology of seizures and EEG findings and compared the semiology of seizures and EEG findings of childhood TLE and adult TLE. A total of 84 seizures were analyzed in 11 children (aged 23-108 months). The age of seizure onset was from 1 month to 26 months (a mean of 17.6 months). All of the patients exhibited prominent motor manifestations including epileptic spasm, tonic seizure, and unilateral clonic seizure. Seven children manifested behavioral arrest similar to an automotor seizure in adult TLE but with a shorter duration and higher frequency. The automatisms were typically orofacial, whereas manual automatisms were rarely observed. The EEG recordings revealed that diffuse discharge patterns were more common in younger children, whereas focal or unilateral patterns were more typical in older children. All of the patients were seizure-free after temporal lobectomy with more than one-year follow-up. All of the children had a mental development delay or regression; however, there was improvement after surgery, especially in those with surgery performed early. In contrast to TLE in adults, young children with lesional TLE probably represent a distinct nosological and probably less homogeneous syndrome. Although they had generalized clinical and electrographic features, resective epilepsy surgery should be considered as early as possible to obtain seizure control and improvement in mental development. Copyright © 2013 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Primary Macroglobulinemia

PubMed Central

Edwards, A. M.; Costopoulous, L. B.; Bell, H. E.

1964-01-01

Clinical features presented by a patient with primary macroglobulinemia over a four-year period included cachexia, weight loss, bleeding tendency, anemia, lymphadenopathy, hepatosplenomegaly and recurrent pulmonary bacterial infections. Immunoelectrophoresis demonstrated the presence of a β2 macroglobulin which, on ultracentrifugation, was found to have a sedimentation constant of 14.9 S20, w; this macroglobulin constituted over 40% of the total serum protein. Postmortem findings included the typical “naked” lymphocyte infiltration of the reticuloendothelial system, with septic embolization from a terminal Gram-negative bacteremia, associated with a mesenteric vascular occlusion. A feature of particular interest was the antemortem appearance of gas in the portal venous system, shown on two abdominal scout radiographs taken one and two hours before death. The diagnostic significance of this rare radiologic sign is discussed. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7Fig. 8Fig. 9Fig. 10Fig. 11Fig. 12Fig. 13Fig. 14Fig. 15 PMID:14226112

Kinase fusions are frequent in Spitz tumors and spitzoid melanomas

PubMed Central

Esteve-Puig, Rosaura; Botton, Thomas; Yeh, Iwei; Lipson, Doron; Otto, Geoff; Brennan, Kristina; Murali, Rajmohan; Garrido, Maria; Miller, Vincent A.; Ross, Jeffrey S; Berger, Michael F.; Sparatta, Alyssa; Palmedo, Gabriele; Cerroni, Lorenzo; Busam, Klaus J.; Kutzner, Heinz; Cronin, Maureen T; Stephens, Philip J; Bastian, Boris C.

2014-01-01

Spitzoid neoplasms are a group of melanocytic tumors with distinctive histopathologic features. They include benign tumors (Spitz nevi), malignant tumors (spitzoid melanomas), and tumors with borderline histopathologic features and uncertain clinical outcome (atypical Spitz tumors). Their genetic underpinnings are poorly understood, and alterations in common melanoma-associated oncogenes are typically absent. Here we show that spitzoid neoplasms harbor kinase fusions of ROS1 (17%), NTRK1 (16%), ALK (10%), BRAF (5%), and RET (3%) in a mutually exclusive pattern. The chimeric proteins are constitutively active, stimulate oncogenic signaling pathways, are tumorigenic, and are found in the entire biologic spectrum of spitzoid neoplasms, including 55% of Spitz nevi, 56% of atypical Spitz tumors, and 39% of spitzoid melanomas. Kinase inhibitors suppress the oncogenic signaling of the fusion proteins in vitro. In summary, kinase fusions account for the majority of oncogenic aberrations in spitzoid neoplasms, and may serve as therapeutic targets for metastatic spitzoid melanomas. PMID:24445538

Youngest case of ductal carcinoma in situ arising within a benign phyllodes tumour: A case report.

PubMed

Chopra, Sharat; Muralikrishnan, Vummiti; Brotto, Maurizio

2016-01-01

Phyllodes tumour (PT) is a rare tumour of the female breast. The tumour clinically and radiologically mimics the features of a fibroadenoma. Ductal carcinoma in situ (DCIS) in the epithelial component of PT is a very rare finding. We present youngest ever case of a 23-year-old nulliparous woman with high-grade ductal carcinoma in situ arising within a benign phyllodes tumor. Macroscopically, it is a homogeneous tumour with solid components. Microscopically, it features typical leaf-like pattern with hypercellular stroma with high-grade ductal carcinoma in situ. To date, eight such rare cases of benign phyllodes tumour with ductal carcinoma in situ have been documented. We report the youngest case known in literature so far. As this is a very rare presentation, it poses several challenges in regard to both management and follow-up. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.

PubMed

Kraoua, Lilia; Journel, Hubert; Bonnet, Philippe; Amiel, Jeanne; Pouvreau, Nathalie; Baumann, Clarisse; Verloes, Alain; Cavé, Hélène

2012-10-01

Recently, germline mutations of NRAS have been shown to be associated with Noonan syndrome (NS), a relatively common developmental disorder characterized by short stature, congenital heart disease, and distinctive facial features. We report on the mutational analysis of NRAS in a cohort of 125 French patients with NS and no known mutation for PTPN11, KRAS, SOS1, MEK1, MEK2, RAF1, BRAF, and SHOC2. The c.179G>A (p.G60E) mutation was identified in two patients with typical NS, confirming that NRAS germline mutations are a rare cause of this syndrome. We also screened our cohort of 95 patients with juvenile myelomonocytic leukemia (JMML). Among 17 patients with NRAS-mutated JMML, none had clinical features suggestive of NS. None of the 11 JMML patients for which germline DNA was available had a constitutional NRAS mutation. Copyright © 2012 Wiley Periodicals, Inc.

Imaging of cerebellopontine angle lesions: an update. Part 1: enhancing extra-axial lesions.

PubMed

Bonneville, Fabrice; Savatovsky, Julien; Chiras, Jacques

2007-10-01

Computed tomography (CT) and magnetic resonance (MR) imaging reliably demonstrate typical features of vestibular schwannomas or meningiomas in the vast majority of mass lesions in the cerebellopontine angle (CPA). However, a large variety of unusual lesions can also be encountered in the CPA. Covering the entire spectrum of lesions potentially found in the CPA, these articles explain the pertinent neuroimaging features that radiologists need to know to make clinically relevant diagnoses in these cases, including data from diffusion and perfusion-weighted imaging or MR spectroscopy, when available. A diagnostic algorithm based on the lesion's site of origin, shape and margins, density, signal intensity and contrast material uptake is also proposed. Part 1 describes the different enhancing extra-axial CPA masses primarily arising from the cerebellopontine cistern and its contents, including vestibular and non-vestibular schwannomas, meningioma, metastasis, aneurysm, tuberculosis and other miscellaneous meningeal lesions.

Electroencephalography in the Diagnosis of Genetic Generalized Epilepsy Syndromes

PubMed Central

Seneviratne, Udaya; Cook, Mark J.; D’Souza, Wendyl Jude

2017-01-01

Genetic generalized epilepsy (GGE) consists of several syndromes diagnosed and classified on the basis of clinical features and electroencephalographic (EEG) abnormalities. The main EEG feature of GGE is bilateral, synchronous, symmetric, and generalized spike-wave complex. Other classic EEG abnormalities are polyspikes, epileptiform K-complexes and sleep spindles, polyspike-wave discharges, occipital intermittent rhythmic delta activity, eye-closure sensitivity, fixation-off sensitivity, and photoparoxysmal response. However, admixed with typical changes, atypical epileptiform discharges are also commonly seen in GGE. There are circadian variations of generalized epileptiform discharges. Sleep, sleep deprivation, hyperventilation, intermittent photic stimulation, eye closure, and fixation-off are often used as activation techniques to increase the diagnostic yield of EEG recordings. Reflex seizure-related EEG abnormalities can be elicited by the use of triggers such as cognitive tasks and pattern stimulation during the EEG recording in selected patients. Distinct electrographic abnormalities to help classification can be identified among different electroclinical syndromes. PMID:28993753

Perforated peptic ulcer in an adolescent girl.

PubMed

Schwartz, Shepard; Edden, Yair; Orkin, Boris; Erlichman, Matityahu

2012-07-01

A perforated peptic ulcer in a child is a rare entity. Severe abdominal pain in an ill-appearing child with a rigid abdomen and possibly with signs of shock is the typical presenting feature of this life-threatening complication of peptic ulcer disease. We present a case of a 14.5-year-old adolescent girl who developed abdominal and shoulder pain that resolved after 1 day. She was then completely well for 2 days until the abdominal and shoulder pain recurred. On examination, she appeared well, but in pain. A chest radiograph revealed a large pneumoperitoneum. She underwent emergent laparoscopic omental patch repair of a perforated ulcer on the anterior wall of her stomach. Result of a urea breath test to detect Helicobacter pylori was negative. The differential diagnosis of pneumoperitoneum in children is discussed, as are childhood perforated peptic ulcer in general, and the unique clinical features present in this case in particular.

Kinase fusions are frequent in Spitz tumours and spitzoid melanomas

NASA Astrophysics Data System (ADS)

Wiesner, Thomas; He, Jie; Yelensky, Roman; Esteve-Puig, Rosaura; Botton, Thomas; Yeh, Iwei; Lipson, Doron; Otto, Geoff; Brennan, Kristina; Murali, Rajmohan; Garrido, Maria; Miller, Vincent A.; Ross, Jeffrey S.; Berger, Michael F.; Sparatta, Alyssa; Palmedo, Gabriele; Cerroni, Lorenzo; Busam, Klaus J.; Kutzner, Heinz; Cronin, Maureen T.; Stephens, Philip J.; Bastian, Boris C.

2014-01-01

Spitzoid neoplasms are a group of melanocytic tumours with distinctive histopathological features. They include benign tumours (Spitz naevi), malignant tumours (spitzoid melanomas) and tumours with borderline histopathological features and uncertain clinical outcome (atypical Spitz tumours). Their genetic underpinnings are poorly understood, and alterations in common melanoma-associated oncogenes are typically absent. Here we show that spitzoid neoplasms harbour kinase fusions of ROS1 (17%), NTRK1 (16%), ALK (10%), BRAF (5%) and RET (3%) in a mutually exclusive pattern. The chimeric proteins are constitutively active, stimulate oncogenic signalling pathways, are tumourigenic and are found in the entire biologic spectrum of spitzoid neoplasms, including 55% of Spitz naevi, 56% of atypical Spitz tumours and 39% of spitzoid melanomas. Kinase inhibitors suppress the oncogenic signalling of the fusion proteins in vitro. In summary, kinase fusions account for the majority of oncogenic aberrations in spitzoid neoplasms and may serve as therapeutic targets for metastatic spitzoid melanomas.

Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1.

PubMed

Hedera, P; Toriello, H V; Petty, E M

2002-07-01

Treacher Collins syndrome (TCS), the most common type of mandibulofacial dysostosis (MFD), is genetically homogeneous. Other types of MFD are less common and, of these, only the Bauru type of MFD has an autosomal dominant (AD) mode of inheritance established. Here we report clinical features of a kindred with a unique AD MFD with the exclusion of linkage to the TCS locus (TCOF1) on chromosome 5q31-q32. Six affected family members underwent a complete medical genetics physical examination and two affected subjects had skeletal survey. All available medical records were reviewed. Linkage analysis using the markers spanning the TCOF1 locus was performed. One typically affected family member had a high resolution karyotype. Affected subjects had significant craniofacial abnormalities without any significant acral changes and thus had a phenotype consistent with a MFD variant. Distinctive features included hypoplasia of the zygomatic complex, micrognathia with malocclusion, auricular abnormalities with conductive hearing loss, and ptosis. Significantly negative two point lod scores were obtained for markers spanning the TCOF1 locus, excluding the possibility that the disease in our kindred is allelic with TCS. High resolution karyotype was normal. We report a kindred with a novel type of MFD that is not linked to the TCOF1 locus and is also clinically distinct from other types of AD MFD. Identification of additional families will facilitate identification of the gene causing this type of AD MFD and further characterisation of the clinical phenotype.

Social abilities and gender roles in adolescent girls with polycystic ovary syndrome - a pilot study.

PubMed

Zachurzok, Agnieszka; Gawlik, Aneta; Nowak, Aleksandra; Drosdzol-Cop, Agnieszka; Małecka-Tendera, Ewa

2014-01-01

Clinical and hormonal features of polycystic ovary syndrome (PCOS), which may be present already in adolescence, can significantly influence the psychological development and wellbeing of a young woman.The aim of this pilot study was to determine social competence and gender roles in adolescent girls with PCOS compared to healthy peers, and to evaluate the relationship between psychological profile and clinical and hormonal components of PCOS. In 28 adolescent girls with PCOS, and 12 healthy regularly menstruating girls, clinical evaluation and hormonal profile were assessed and social competence inventory (SCI) and psychological gender inventory (PGI) tests were performed. There were no significant differences in all parts of SCI in absolute numbers or in sten scores between the study and the control group. Also in PGI, in both the feminine and masculine gender schemes, the differences between the groups were statistically insignificant. In the study group, DHEAS concentration correlated positively with self presentation score (r = 0.4, p = 0.03). There was also a significant negative correlation between testosterone level and SCI score (r = -0.5, p = 0.01) as well as assertiveness score (r = -0.5, p = 0.02). No significant correlations between SCI or PGI with BMI z-score or hirsutism score were found. Despite the existence of clinical and biochemical features that can influence sociopsychological condition, in adolescent girls with PCOS, social abilities and sex-typical behaviours do not seem to be disturbed.

A relativity concept in mesenchymal stromal cell manufacturing.

PubMed

Martin, Ivan; De Boer, Jan; Sensebe, Luc

2016-05-01

Mesenchymal stromal cells (MSCs) are being experimentally tested in several biological systems and clinical settings with the aim of verifying possible therapeutic effects for a variety of indications. MSCs are also known to be heterogeneous populations, with phenotypic and functional features that depend heavily on the individual donor, the harvest site, and the culture conditions. In the context of this multidimensional complexity, a recurrent question is whether it is feasible to produce MSC batches as "standard" therapeutics, possibly within scalable manufacturing systems. Here, we provide a short overview of the literature on different culture methods for MSCs, including those employing innovative technologies, and of some typically assessed functional features (e.g., growth, senescence, genomic stability, clonogenicity, etc.). We then offer our perspective of a roadmap on how to identify and refine manufacturing systems for MSCs intended for specific clinical indications. We submit that the vision of producing MSCs according to a unique standard, although commercially attractive, cannot yet be scientifically substantiated. Instead, efforts should be concentrated on standardizing methods for characterization of MSCs generated by different groups, possibly covering a vast gamut of functionalities. Such assessments, combined with hypotheses on the therapeutic mode of action and associated clinical data, should ultimately allow definition of in-process controls and measurable release criteria for MSC manufacturing. These will have to be validated as predictive of potency in suitable pre-clinical models and of therapeutic efficacy in patients. Copyright © 2016 International Society for Cellular Therapy. Published by Elsevier Inc. All rights reserved.

Migraine in a pediatric population: a clinical study in children younger than 7 years of age.

PubMed

Raieli, Vincenzo; Pitino, Renata; Giordano, Giuliana; Spitalieri, Chiara; Consolo, Flavia; Puma, Domenico; Santangelo, Giuseppe; Vanadia, Francesca; D'Amelio, Marco

2015-06-01

Migraines in children younger than 7 years of age have received limited attention in the published literature. The aim of this study is to describe the characteristics of migraine phenotypes in children younger than 7 years, and to compare them with migraines in children older than 7 years of age. We reviewed all standard clinical files, collected over 4 years, related to children with a diagnosis of primary headache. We included all children younger than 7 years diagnosed with migraine in our study. A total of 374 children (188 males, 186 females) were affected by migraine with/without aura: 40 of these patients (10.7%; 20 males, 20 females; mean age 5y 7mo, SD 1y 2mo) where younger than 7 years old. The frequencies of the main migraine features in the younger age group were similar to those of children older than 7 years, with the exception of a shorter duration of migraine and reduced frequency of attacks. In children younger than 7 years of age, the clinical phenotype of migraine is similar to that seen in older children. We propose that there is a general genetic migraine susceptibility that, in the presence of activating environmental factors, may induce typical attacks of migraine in individuals already predisposed to migraine attacks. Therefore, different modules induce different clinical features within the different age groups, but there is no difference in the frequencies of clinical phenotypes between the two age groups. © 2015 Mac Keith Press.

Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.

PubMed

Mozzillo, Enza; Cozzolino, Carla; Genesio, Rita; Melis, Daniela; Frisso, Giulia; Orrico, Ada; Lombardo, Barbara; Fattorusso, Valentina; Discepolo, Valentina; Della Casa, Roberto; Simonelli, Francesca; Nitsch, Lucio; Salvatore, Francesco; Franzese, Adriana

2016-08-01

In childhood, several rare genetic diseases have overlapping symptoms and signs, including those regarding growth alterations, thus the differential diagnosis is sometimes difficult. The proband, aged 3 years, was suspected to have Silver-Russel syndrome because of intrauterine growth retardation, postnatal growth retardation, typical facial dysmorphic features, macrocephaly, body asymmetry, and bilateral fifth finger clinodactyly. Other features were left atrial and ventricular enlargement and patent foramen ovale. Total X-ray skeleton showed hypoplasia of the twelfth rib bilaterally and of the coccyx, slender long bones with thick cortex, and narrow medullary channels. The genetic investigation did not confirm Silver-Russel syndrome. At the age of 5 the patient developed an additional sign: hepatomegaly. Array CGH revealed a 147 kb deletion (involving TRIM 37 and SKA2 genes) on one allele of chromosome 17, inherited from his mother. These results suggested Mulibrey nanism. The clinical features were found to fit this hypothesis. Sequencing of the TRIM 37 gene showed a single base change at a splicing locus, inherited from his father that provoked a truncated protein. The combined use of Array CGH and DNA sequencing confirmed diagnosis of Mulibrey nanism. The large deletion involving the SKA2 gene, along with the increased frequency of malignant tumours in mulibrey patients, suggests closed monitoring for cancer of our patient and his mother. Array CGH should be performed as first tier test in all infants with multiple anomalies. The clinician should reconsider the clinical features when the genetics suggests this. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Happily-ever-after: Personal narratives in weight-loss surgery advertising.

PubMed

Groven, Karen Synne; Braithwaite, Jean

2016-11-01

Advertising for weight loss surgery (WLS) is typically but not exclusively targeted toward women. The surgery is portrayed as the most effective way to free oneself from the stigmas and health risks associated with large bodies. WLS clinics routinely feature success stories by former patients that include before and after pictures and personal narratives. Because these testimonials are cherry-picked by the clinics, naturally they do not represent the full spectrum of postsurgical patient experiences, yet they are likely to influence the decision making of prospective patients. Our findings show that these success stories do not offer adequate information to prospective patients about what to expect after the surgery. In particular, the success stories tend to speak of side-effects as self-inflicted, thus reinforcing the healthist cultural/medical message of individual responsibility that is driving the current WLS epidemic.

Cardiorespiratory Failure in Thyroid Storm: Case Report and Literature Review

PubMed Central

Nai, Qiang; Ansari, Mohammad; Pak, Stella; Tian, Yufei; Amzad-Hossain, Mohammed; Zhang, Yanhong; Lou, Yali; Sen, Shuvendu; Islam, Mohammed

2018-01-01

Thyroid storm is a potentially fatal manifestation of thyrotoxicosis. Cardiopulmonary failure is the most common cause of death in thyroid storm. Clinicians should keep in mind that thyroid storm complicated with cardiopulmonary failure can be the first presentation of thyrotoxicosis. As early intervention is associated with improved patient outcome, prompt diagnosis based on clinical grounds is of paramount importance in the management of thyrotoxicosis. A high index of suspicion and the ability of early recognition of impending thyroid storm depends on a thorough knowledge of both the typical and atypical clinical features of this illness. Herein, we report a case of thyroid storm presenting as cardiopulmonary failure in a 51-year-old woman with undiagnosed Grave’s disease. Additionally, we review the pathophysiology of cardiopulmonary failure associated with thyrotoxicosis and various treatment modalities for thyroid storm. PMID:29511425

Urticarial vasculitis.

PubMed

Chang, Suyoung; Carr, Warner

2007-01-01

A case of urticarial vasculitis (UV) is presented. The pathogenesis, clinical characteristics, diagnosis, and management of this disease are reviewed, followed by clinical pearls and pitfalls for the practicing allergist (Venzor J, et al., Urticarial vasculitis, Clin Rev Allergy Immunol 23:201-216, 2002). The lesions in UV typically lasts > 24 hours in a fixed location, resolves with residual hyperpigmentation, and may or may not be pruritic. In contrast, standard urticaria lesions persist < 24 hours, leave no trace, and is always pruritic (Black AK, Urticarial vasculitis, Clin Dermatol 17:565-569, 1999). Since urticarial vasculitis is characterized by a variety of cutaneous, systemic, and serological features, different names of this disorder exist in the literature (Wisnieski JJ, Urticarial vasculitis, Curr Opin Rheumatol 12:24-31, 2000). A biopsy of an active lesion remains the gold standard for the diagnosis of urticarial vasculitis.

Cardiorespiratory Failure in Thyroid Storm: Case Report and Literature Review.

PubMed

Nai, Qiang; Ansari, Mohammad; Pak, Stella; Tian, Yufei; Amzad-Hossain, Mohammed; Zhang, Yanhong; Lou, Yali; Sen, Shuvendu; Islam, Mohammed

2018-04-01

Thyroid storm is a potentially fatal manifestation of thyrotoxicosis. Cardiopulmonary failure is the most common cause of death in thyroid storm. Clinicians should keep in mind that thyroid storm complicated with cardiopulmonary failure can be the first presentation of thyrotoxicosis. As early intervention is associated with improved patient outcome, prompt diagnosis based on clinical grounds is of paramount importance in the management of thyrotoxicosis. A high index of suspicion and the ability of early recognition of impending thyroid storm depends on a thorough knowledge of both the typical and atypical clinical features of this illness. Herein, we report a case of thyroid storm presenting as cardiopulmonary failure in a 51-year-old woman with undiagnosed Grave's disease. Additionally, we review the pathophysiology of cardiopulmonary failure associated with thyrotoxicosis and various treatment modalities for thyroid storm.

Prevalence of spinocerebellar ataxia 36 in a US population

PubMed Central

Valera, Juliana M.; Diaz, Tatyana; Petty, Lauren E.; Quintáns, Beatriz; Yáñez, Zuleima; Boerwinkle, Eric; Muzny, Donna; Akhmedov, Dmitry; Berdeaux, Rebecca; Sobrido, Maria J.; Gibbs, Richard; Lupski, James R.; Geschwind, Daniel H.; Perlman, Susan; Below, Jennifer E.

2017-01-01

Objective: To assess the prevalence and clinical features of individuals affected by spinocerebellar ataxia 36 (SCA36) at a large tertiary referral center in the United States. Methods: A total of 577 patients with undiagnosed sporadic or familial cerebellar ataxia comprehensively evaluated at a tertiary referral ataxia center were molecularly evaluated for SCA36. Repeat primed PCR and fragment analysis were used to screen for the presence of a repeat expansion in the NOP56 gene. Results: Fragment analysis of triplet repeat primed PCR products identified a GGCCTG hexanucleotide repeat expansion in intron 1 of NOP56 in 4 index cases. These 4 SCA36-positive families comprised 2 distinct ethnic groups: white (European) (2) and Asian (Japanese [1] and Vietnamese [1]). Individuals affected by SCA36 exhibited typical clinical features with gait ataxia and age at onset ranging between 35 and 50 years. Patients also suffered from ataxic or spastic limbs, altered reflexes, abnormal ocular movement, and cognitive impairment. Conclusions: In a US population, SCA36 was observed to be a rare disorder, accounting for 0.7% (4/577 index cases) of disease in a large undiagnosed ataxia cohort. PMID:28761930

Infectious mononucleosis in university students in the United kingdom: evaluation of the clinical features and consequences of the disease.

PubMed

Macsween, Karen F; Higgins, Craig D; McAulay, Karen A; Williams, Hilary; Harrison, Nadine; Swerdlow, Anthony J; Crawford, Dorothy H

2010-03-01

Infectious mononucleosis (IM) is common among university students. We undertook to analyze the clinical features and sequelae of the disease in a cohort of students at Edinburgh University. Consecutive IM case patients were recruited from 2000 through 2002 at the University Health Service after diagnosis of IM. IM resulted in marked reductions in student study time, physical exercise, and non-exercise-related social activities, and sustained increases in reported number of hours of sleep. The disease profile differed between the sexes, with significantly more females reporting fatigue, which was more likely to be prolonged (P = .003) and to lead to loss of study time (P = .013). Female case patients were more likely to discontinue their studies following IM (16% vs 0%; P = .056). Within the typically elevated lymphocyte counts in IM, we identified an elevated gammadelta T cell component that may contribute to the disease pathogenesis. IM results in substantial morbidity among university students, reported as more profound in females, and affecting academic studies, physical exercise, and social activities. Immunization to prevent IM and strategies to reduce post-IM disability would be beneficial in this population.

Renal oncocytoma: experience of Clinical Urology A, Urology Department, CHU Ibn Sina, Rabat, Morocco and literature review.

PubMed

Benatiya, Marwane Andaloussi; Rais, Ghizlane; Tahri, Mounir; Barki, Ali; El sayegh, Hachem; Iken, Ali; Nouini, Yassine; Lachkar, Azzouz; Benslimane, Lounis; Errihani, Hassan; Faik, Mohammed

2012-01-01

Renal oncocytoma is a rare and benign renal tumor. Only few cases have been reported in Moroccan populations. In the present study, we report our experiences in the diagnosis, management and follow-up of this disease. We report on six cases of renal oncocytoma indentified between 1990 and 2008 in the urology department of "CHU Ibn Sina" in Rabat. These six cases are listed among 130 kidney tumors reported during the study period. We assess the clinical, radiological and therapeutic features of the patients and we review literature. Six cases of renal oncocytoma, representing 4.6% of all primitive kidney tumors treated in our institution during the study period. The mean age was 53 ±9.7 years (range 34 to 61 years). One patient was asymptomatic at presentation, five patients (83%) had flank pain and two (33%) had macroscopic hematuria. The tumor was right sided in 4 cases (66%) and left sided in 2 cases (33%). All patients underwent CT scan which showed, in three cases, a centrally located stellate area of low attenuation. The clinical suspicion of oncocytoma was made preoperatively in only 3 patients by imaging studies, but the suspicion of renal cell carcinoma persist and all patients were treated with radical nephrectomy. Definitive diagnosis was made in all cases postoperatively. All the tumors were well circumscribed but unencapsulated. The mean tumor size was 8,75±2,04 cm. Four patients were classified at stage pT2 and two at stage p T1. Most of the pathological features in our patients were typical of this entity. Predominant cell type was a typical oncocytoma with general low mitotic activity. No extension to peri-nephric fat tissue or lymphovascular invasion was observed. After a mean follow-up of 36 months (range 26-62 months), there was neither recurrence nor death from oncocytoma. Accordingly, the disease-specific survival was 100%. Renal oncocytoma has a benign clinical course with excellent long-term outcomes. In our series, it happened mostly in females and is more frequently symptomatic. Although radical nephrectomy is the usual treatment, a conservative approach should be considered whenever there are signs of clinical and radiological presumptions.

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

PubMed Central

Fratter, C.; Gorman, G.S.; Stewart, J.D.; Buddles, M.; Smith, C.; Evans, J.; Seller, A.; Poulton, J.; Roberts, M.; Hanna, M.G.; Rahman, S.; Omer, S.E.; Klopstock, T.; Schoser, B.; Kornblum, C.; Czermin, B.; Lecky, B.; Blakely, E.L.; Craig, K.; Chinnery, P.F.; Turnbull, D.M.; Horvath, R.; Taylor, R.W.

2010-01-01

Background: Mutations in the Twinkle (PEO1) gene are a recognized cause of autosomal dominant progressive external ophthalmoplegia (adPEO), resulting in the accumulation of multiple mitochondrial DNA (mtDNA) deletions and cytochrome c oxidase (COX)-deficient fibers in skeletal muscle secondary to a disorder of mtDNA maintenance. Patients typically present with isolated extraocular muscle involvement, with little apparent evidence of the clinical heterogeneity documented in other mtDNA maintenance disorders, in particular POLG-related disease. Methods: We reviewed the clinical, histochemical, and molecular genetics analysis of 33 unreported patients from 26 families together with all previous cases described in the literature to define the clinical phenotype associated with PEO1 mutations. Results: Ptosis and ophthalmoparesis were almost universal clinical features among this cohort, with 52% (17/33) reporting fatigue and 33% (11/33) having mild proximal myopathy. Features consistent with CNS involvement were rarely described; however, in 24% (8/33) of the patients, cardiac abnormalities were reported. Mitochondrial histochemical changes observed in muscle showed remarkable variability, as did the secondary mtDNA deletions, which in some patients were only detected by PCR-based assays and not Southern blotting. Moreover, we report 7 novel PEO1 variants. Conclusions: Our data suggest a shared clinical phenotype with variable mild multiorgan involvement, and that the contribution of PEO1 mutations as a cause of adPEO may well be underestimated. Direct sequencing of the PEO1 gene should be considered in adPEO patients prior to muscle biopsy. GLOSSARY adPEO = autosomal dominant progressive external ophthalmoplegia; COX = cytochrome c oxidase; IOSCA = infantile-onset spinocerebellar ataxia; mtDNA = mitochondrial DNA; PEO = progressive external ophthalmoplegia; SANDO = sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; SDH = succinate dehydrogenase. PMID:20479361

DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.

PubMed

Bardai, G; Moffatt, P; Glorieux, F H; Rauch, F

2016-12-01

We detected disease-causing mutations in 585 of 598 individuals (98 %) with typical features of osteogenesis imperfecta (OI). In mild OI, only collagen type I encoding genes were involved. In moderate to severe OI, mutations in 12 different genes were found; 11 % of these patients had mutations in recessive genes. OI is usually caused by mutations in COL1A1 or COL1A2, the genes encoding collagen type I alpha chains, but mutations in at least 16 other genes have also been associated with OI. It is presently unknown what proportion of individuals with clinical features of OI has a disease-causing mutation in one of these genes. DNA sequence analysis was performed on 598 individuals from 487 families who had a typical OI phenotype. OI type I was diagnosed in 43 % of individuals, and 57 % had moderate to severe OI, defined as OI types other than type I. Disease-causing variants were detected in 97 % of individuals with OI type I and in 99 % of patients with moderate to severe OI. All mutations found in OI type I were dominant and exclusively affected COL1A1 or COL1A2. In moderate to severe OI, dominant mutations were found in COL1A1/COL1A2 (77 %), IFITM5 (9 %), and P4HB (0.6 %). Mutations in one of the recessive OI-associated gene were observed in 12 % of individuals with moderate to severe OI. The genes most frequently involved in recessive OI were SERPINF1 (4.0 % of individuals with moderate to severe OI) and CRTAP (2.9 %). DNA sequence analysis of currently known OI-associated genes identifies disease-causing variants in almost all individuals with a typical OI phenotype. About 20 % of individuals with moderate to severe OI had mutations in genes other than COL1A1/COL1A2.

Improved EEG Event Classification Using Differential Energy.

PubMed

Harati, A; Golmohammadi, M; Lopez, S; Obeid, I; Picone, J

2015-12-01

Feature extraction for automatic classification of EEG signals typically relies on time frequency representations of the signal. Techniques such as cepstral-based filter banks or wavelets are popular analysis techniques in many signal processing applications including EEG classification. In this paper, we present a comparison of a variety of approaches to estimating and postprocessing features. To further aid in discrimination of periodic signals from aperiodic signals, we add a differential energy term. We evaluate our approaches on the TUH EEG Corpus, which is the largest publicly available EEG corpus and an exceedingly challenging task due to the clinical nature of the data. We demonstrate that a variant of a standard filter bank-based approach, coupled with first and second derivatives, provides a substantial reduction in the overall error rate. The combination of differential energy and derivatives produces a 24 % absolute reduction in the error rate and improves our ability to discriminate between signal events and background noise. This relatively simple approach proves to be comparable to other popular feature extraction approaches such as wavelets, but is much more computationally efficient.

Expressive writing and eating disorder features: a preliminary trial in a student sample of the impact of three writing tasks on eating disorder symptoms and associated cognitive, affective and interpersonal factors.

PubMed

East, Philippa; Startup, Helen; Roberts, Clifford; Schmidt, Ulrike

2010-05-01

To evaluate the impact of three writing tasks on the cognitive, affective and interpersonal factors typically associated with eating disorder symptoms, in a student population. Two experimental tasks and one control task were evaluated. Participants gave subjective ratings of the writing experience, and objective questionnaire measures were administered at baseline, and 4- and 8-week follow-up. Participants who dropped out without completing the writing tasks were more experientially avoidant. The three tasks differed significantly in subjective impact, and the experimental tasks were most effective in reducing eating disorder symptoms. They also ameliorated some key features associated with eating difficulties. The control task generally had less, no or a detrimental effect. The results provide preliminary indirect support for the use of therapeutic writing to address specific features associated with the eating disorder presentation. Further research is required to replicate the present findings and extend these to the clinical population. Copyright (c) 2010 John Wiley & Sons, Ltd and Eating Disorders Association.

A scanning acoustic microscope discriminates cancer cells in fluid

NASA Astrophysics Data System (ADS)

Miura, Katsutoshi; Yamamoto, Seiji

2015-10-01

Scanning acoustic microscopy (SAM) discriminates lesions in sections by assessing the speed of sound (SOS) or attenuation of sound (AOS) through tissues within a few minutes without staining; however, its clinical use in cytological diagnosis is unknown. We applied a thin layer preparation method to observe benign and malignant effusions using SAM. Although SAM is inferior in detecting nuclear features than light microscopy, it can differentiate malignant from benign cells using the higher SOS and AOS values and large irregular cell clusters that are typical features of carcinomas. Moreover, each single malignant cell exhibits characteristic cytoplasmic features such as a large size, irregular borders and secretory or cytoskeletal content. By adjusting the observation range, malignant cells are differentiated from benign cells easily using SAM. Subtle changes in the functional and structural heterogeneity of tumour cells were pursuable with a different digital data of SAM. SAM can be a useful tool for screening malignant cells in effusions before light microscopic observation. Higher AOS values in malignant cells compared with those of benign cells support the feasibility of a novel sonodynamic therapy for malignant effusions.

Cranio-orbital primary intraosseous haemangioma.

PubMed

Gupta, T; Rose, G E; Manisali, M; Minhas, P; Uddin, J M; Verity, D H

2013-11-01

Primary intraosseous haemangioma (IOH) is a rare benign neoplasm presenting in the fourth and fifth decades of life. The spine and skull are the most commonly involved, orbital involvement is extremely rare. We describe six patients with cranio-orbital IOH, the largest case series to date. Retrospective review of six patients with histologically confirmed primary IOH involving the orbit. Clinical characteristics, imaging features, approach to management, and histopathological findings are described. Five patients were male with a median age of 56. Pain and diplopia were the most common presenting features. A characteristic 'honeycomb' pattern on CT imaging was demonstrated in three of the cases. Complete surgical excision was performed in all cases with presurgical embolisation carried out in one case. In all the cases, histological studies identified cavernous vascular spaces within the bony tissue. These channels were lined by single layer of cytologically normal endothelial cells. IOCH of the cranio-orbital region is rare; in the absence of typical imaging features, the differential diagnosis includes chondroma, chondrosarcoma, bony metastasis, and lymphoma. Surgical excision may be necessary to exclude more sinister pathology. Intraoperative haemorrhage can be severe and may be reduced by preoperative embolisation.

Abnormal semantic knowledge in a case of developmental amnesia.

PubMed

Blumenthal, Anna; Duke, Devin; Bowles, Ben; Gilboa, Asaf; Rosenbaum, R Shayna; Köhler, Stefan; McRae, Ken

2017-07-28

An important theory holds that semantic knowledge can develop independently of episodic memory. One strong source of evidence supporting this independence comes from the observation that individuals with early hippocampal damage leading to developmental amnesia generally perform normally on standard tests of semantic memory, despite their profound impairment in episodic memory. However, one aspect of semantic memory that has not been explored is conceptual structure. We built on the theoretically important distinction between intrinsic features of object concepts (e.g., shape, colour, parts) and extrinsic features (e.g., how something is used, where it is typically located). The accrual of extrinsic feature knowledge that is important for concepts such as chair or spoon may depend on binding mechanisms in the hippocampus. We tested HC, an individual with developmental amnesia due to a well-characterized lesion of the hippocampus, on her ability to generate semantic features for object concepts. HC generated fewer extrinsic features than controls, but a similar number of intrinsic features than controls. We also tested her on typicality ratings. Her typicality ratings were abnormal for nonliving things (which more strongly depend on extrinsic features), but normal for living things (which more strongly depend on intrinsic features). In contrast, NB, who has MTL but not hippocampal damage due to surgery, showed no impairments in either task. These results suggest that episodic and semantic memory are not entirely independent, and that the hippocampus is important for learning some aspects of conceptual knowledge. Copyright © 2017 Elsevier Ltd. All rights reserved.

A machine learning heuristic to identify biologically relevant and minimal biomarker panels from omics data

PubMed Central

2015-01-01

Background Investigations into novel biomarkers using omics techniques generate large amounts of data. Due to their size and numbers of attributes, these data are suitable for analysis with machine learning methods. A key component of typical machine learning pipelines for omics data is feature selection, which is used to reduce the raw high-dimensional data into a tractable number of features. Feature selection needs to balance the objective of using as few features as possible, while maintaining high predictive power. This balance is crucial when the goal of data analysis is the identification of highly accurate but small panels of biomarkers with potential clinical utility. In this paper we propose a heuristic for the selection of very small feature subsets, via an iterative feature elimination process that is guided by rule-based machine learning, called RGIFE (Rule-guided Iterative Feature Elimination). We use this heuristic to identify putative biomarkers of osteoarthritis (OA), articular cartilage degradation and synovial inflammation, using both proteomic and transcriptomic datasets. Results and discussion Our RGIFE heuristic increased the classification accuracies achieved for all datasets when no feature selection is used, and performed well in a comparison with other feature selection methods. Using this method the datasets were reduced to a smaller number of genes or proteins, including those known to be relevant to OA, cartilage degradation and joint inflammation. The results have shown the RGIFE feature reduction method to be suitable for analysing both proteomic and transcriptomics data. Methods that generate large ‘omics’ datasets are increasingly being used in the area of rheumatology. Conclusions Feature reduction methods are advantageous for the analysis of omics data in the field of rheumatology, as the applications of such techniques are likely to result in improvements in diagnosis, treatment and drug discovery. PMID:25923811

Exclusion of chromosome 1q21-q31 from linkage to three pedigrees affected by the pigment-dispersion syndrome

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

Paglinauan, C.; Haines, J.L.; Del Bono, E.A.

1995-05-01

The pigment-dispersion syndrome is a form of open-angle glaucoma that usually affects individuals in the first 3 decades of life. In addition to the typical optic-nerve degeneration seen in all types of glaucoma, the pigment-dispersion syndrome is characterized by distinctive clinical features including the deposition of pigment granules from the iris epithelium on a variety of ocular structures including the trabecular meshwork. Frequently this disorder affects young myopic individuals. In the early stages of the disease, affected individuals may have clinical evidence of dispersed pigment without an associated elevation of intraocular pressure and optic-nerve degeneration. However, as the disease processmore » progresses, many affected individuals ({approximately}50%) will develop elevated intraocular pressure and degeneration of the optic nerve, causing a permanent loss of sight. The pigment-dispersion syndrome shares several clinical features with the form of autosomal dominant juvenile open-angle glaucoma that recently has been mapped to the 1q21-q31 region of chromosome 1. Our results indicate that the pigment-dispersion syndrome, a form of glaucoma that may also affect the juvenile population, is genetically unrelated to the autosomal dominant form of juvenile glaucoma caused by a defect in a gene located in the 1q21-q31 region of chromosome 1. 15 refs., 2 figs., 1 tab.« less

An assessment of the relationship between congenital transverse deficiency of the forearm and symbrachydactyly.

PubMed

Kallemeier, Patricia M; Manske, Paul R; Davis, Benjamin; Goldfarb, Charles A

2007-11-01

A relationship between symbrachydactyly and transverse deficiency has been suggested but has not been critically investigated or established by scientific studies. The purpose of this investigation was to evaluate a large group of patients with transverse deficiency of the forearm for clinical and radiologic features typically seen in patients with symbrachydactyly. A retrospective review of the medical records of 291 patients with a diagnosis of upper-extremity transverse deficiency at the level of the forearm was performed. Patient charts, photographs, and radiographs were evaluated for manifestations of symbrachydactyly; specifically, we clinically assessed for the presence of nubbins and skin invaginations and radiologically assessed for hypoplasia of the proximal radius and ulna. Two hundred seven patients had soft tissue nubbins at the end of their amputation stumps including 38 with the additional finding of skin invagination at the distal end. Another 36 extremities had a skin invagination alone. Twenty-nine of the extremities without nubbins or skin invaginations had hypoplasia of the proximal radius and ulna. Thus, 272 of the 291 extremities with transverse deficiency had manifestations of symbrachydactyly. The majority of patients with the diagnosis of transverse deficiency have soft tissue nubbins, skin invaginations, or hypoplasia of the proximal radius and ulna at the end of their amputation stumps. These clinical and radiologic features support the concept that transverse deficiency through the forearm represents a proximal continuum of symbrachydactyly.

PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti's Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family.

PubMed

Meng, Xiaohong; Li, Qiyou; Guo, Hong; Xu, Haiwei; Li, Shiying; Yin, Zhengqin

2017-01-01

To characterize the clinical and molecular genetic characteristics of a large, multigenerational Chinese family showing different phenotypes. A pedigree consisted of 56 individuals in 5 generations was recruited. Comprehensive ophthalmic examinations were performed in 16 family members affected. Mutation screening of CYP4V2 was performed by Sanger sequencing. Next-generation sequencing (NGS) was performed to capture and sequence all exons of 47 known retinal dystrophy-associated genes in two affected family members who had no mutations in CYP4V2 . The detected variants in NGS were validated by Sanger sequencing in the family members. Two compound heterozygous CYP4V2 mutations (c.802-8_810del17insGC and c.992A>C) were detected in the proband who presented typical clinical features of BCD. One missense mutation (c.1482C>T, p.T494M) in the PRPF3 gene was detected in 9 out of 22 affected family members who manifested classical clinical features of RP. Our results showed that two compound heterozygous CYP4V2 mutations caused BCD, and one missense mutation in PRPF3 was responsible for adRP in this large family. This study suggests that accurate phenotypic diagnosis, molecular diagnosis, and genetic counseling are necessary for patients with hereditary retinal degeneration in some large mutigenerational family.

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.

PubMed

Pannone, Luca; Bocchinfuso, Gianfranco; Flex, Elisabetta; Rossi, Cesare; Baldassarre, Giuseppina; Lissewski, Christina; Pantaleoni, Francesca; Consoli, Federica; Lepri, Francesca; Magliozzi, Monia; Anselmi, Massimiliano; Delle Vigne, Silvia; Sorge, Giovanni; Karaer, Kadri; Cuturilo, Goran; Sartorio, Alessandro; Tinschert, Sigrid; Accadia, Maria; Digilio, Maria C; Zampino, Giuseppe; De Luca, Alessandro; Cavé, Hélène; Zenker, Martin; Gelb, Bruce D; Dallapiccola, Bruno; Stella, Lorenzo; Ferrero, Giovanni B; Martinelli, Simone; Tartaglia, Marco

2017-04-01

Germline mutations in PTPN11, the gene encoding the Src-homology 2 (SH2) domain-containing protein tyrosine phosphatase (SHP2), cause Noonan syndrome (NS), a relatively common, clinically variable, multisystem disorder. Here, we report on the identification of five different PTPN11 missense changes affecting residues Leu 261 , Leu 262 , and Arg 265 in 16 unrelated individuals with clinical diagnosis of NS or with features suggestive for this disorder, specifying a novel disease-causing mutation cluster. Expression of the mutant proteins in HEK293T cells documented their activating role on MAPK signaling. Structural data predicted a gain-of-function role of substitutions at residues Leu 262 and Arg 265 exerted by disruption of the N-SH2/PTP autoinhibitory interaction. Molecular dynamics simulations suggested a more complex behavior for changes affecting Leu 261 , with possible impact on SHP2's catalytic activity/selectivity and proper interaction of the PTP domain with the regulatory SH2 domains. Consistent with that, biochemical data indicated that substitutions at codons 262 and 265 increased the catalytic activity of the phosphatase, while those affecting codon 261 were only moderately activating but impacted substrate specificity. Remarkably, these mutations underlie a relatively mild form of NS characterized by low prevalence of cardiac defects, short stature, and cognitive and behavioral issues, as well as less evident typical facial features. © 2017 WILEY PERIODICALS, INC.

Dissociative identity disorder and schizophrenia: differential diagnosis and theoretical issues.

PubMed

Foote, Brad; Park, Jane

2008-06-01

Schizophrenia and dissociative identity disorder (DID) are typically thought of as unrelated syndromes--a genetically based psychotic disorder versus a trauma-based dissociative disorder--and are categorized as such by the DSM-IV. However, substantial data exist to document the elevated occurrence of psychotic symptoms in DID; awareness of these features is necessary to prevent diagnostic confusion. Recent research has also pointed out that schizophrenia and DID overlap not only in psychotic symptoms but also in terms of traumatic antecedents, leading to a number of suggestions for revision of our clinical, theoretical, and nosologic understanding of the relationship between these two disorders.

Glucocorticoids for Management of Polymyalgia Rheumatica and Giant Cell Arteritis.

PubMed

Matteson, Eric L; Buttgereit, Frank; Dejaco, Christian; Dasgupta, Bhaskar

2016-02-01

Diagnosis of polymyalgia rheumatica (PMR) and giant cell arteritis (GCA) is based on typical clinical, histologic, and laboratory features. Ultrasonographic imaging in PMR with assessment especially of subdeltoid bursitis can aid in diagnosis and in following response to treatment. In GCA, diagnosis and disease activity are supported with ultrasonographic, MRI, or [(18)F]fluorodeoxyglucose PET evaluation of large vessels. Glucocorticoids are the primary therapy for PMR and GCA. Methotrexate may be used in patients at high risk for glucocorticoid adverse effects and patients with frequent relapse or needing protracted therapy. Other therapeutic approaches including interleukin 6 antagonists are under evaluation. Copyright © 2016 Elsevier Inc. All rights reserved.

Pure spinal multiple sclerosis: A possible novel entity within the multiple sclerosis disease spectrum.

PubMed

Schee, Jie Ping; Viswanathan, Shanthi

2018-05-01

We identified five female patients retrospectively with relapsing short-segment partial myelitis whose clinical and paraclinical features were suggestive of cord involvement of multiple sclerosis (MS)-type albeit not rigidly fulfilling the 2017 McDonald criteria. Notably, these patients had not developed any typical MS-like brain lesions despite repeated neuroimaging assessments over years. Comprehensive work-up for differential diagnoses of MS and other causes of transverse myelitis particularly neuromyelitis optica spectrum disorders had been consistently negative on longitudinal follow-up. Thus, we postulate a possible entity of pure spinal MS which may represent a novel forme fruste within the MS disease spectrum.

Fat Embolism Syndrome: A Case Report and Review Literature

PubMed Central

Uransilp, Nattaphol

2018-01-01

Fat embolism syndrome (FES) is a life-threatening complication in patients with orthopedic trauma, especially long bone fractures. The diagnosis of fat embolism is made by clinical features alone with no specific laboratory findings. FES has no specific treatment and requires supportive care, although it can be prevented by early fixation of bone fractures. Here, we report a case of FES in a patient with right femoral neck fracture, which was diagnosed initially by Gurd's criteria and subsequently confirmed by typical appearances on magnetic resonance imaging (MRI) of the brain. The patient received supportive management and a short course of intravenous methylprednisolone. PMID:29853905

Semantic memory in developmental amnesia.

PubMed

Elward, Rachael L; Vargha-Khadem, Faraneh

2018-04-30

Patients with developmental amnesia resulting from bilateral hippocampal atrophy associated with neonatal hypoxia-ischaemia typically show relatively preserved semantic memory and factual knowledge about the natural world despite severe impairments in episodic memory. Understanding the neural and mnemonic processes that enable this context-free semantic knowledge to be acquired throughout development without the support of the contextualised episodic memory system is a serious challenge. This review describes the clinical presentation of patients with developmental amnesia, contrasts its features with those reported for adult-onset hippocampal amnesia, and analyses the effects of variables that influence the learning of new semantic information. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?

PubMed

Lorenzoni, Paulo José; Werneck, Lineu Cesar; Kay, Cláudia Suemi Kamoi; Silvado, Carlos Eduardo Soares; Scola, Rosana Herminia

2015-11-01

Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is a rare mitochondrial disorder. Diagnostic criteria for MELAS include typical manifestations of the disease: stroke-like episodes, encephalopathy, evidence of mitochondrial dysfunction (laboratorial or histological) and known mitochondrial DNA gene mutations. Clinical features of MELAS are not necessarily uniform in the early stages of the disease, and correlations between clinical manifestations and physiopathology have not been fully elucidated. It is estimated that point mutations in the tRNALeu(UUR) gene of the DNAmt, mainly A3243G, are responsible for more of 80% of MELAS cases. Morphological changes seen upon muscle biopsy in MELAS include a substantive proportion of ragged red fibers (RRF) and the presence of vessels with a strong reaction for succinate dehydrogenase. In this review, we discuss mainly diagnostic criterion, clinical and laboratory manifestations, brain images, histology and molecular findings as well as some differential diagnoses and current treatments.

[Acute neonatal suppurative parotiditis: about three clinical cases and review of the literature].

PubMed

Isfaoun, Zineb; Radouani, Mohammed Amine; Azzaoui, Sihame; Knouni, Houria; Aguenaou, Hassan; Barkat, Amina

2016-01-01

The following case study reports three cases of neonatal bacterial parotiditis observed over a period of seven months. Diagnosis is often based on patient's clinical features: they typically include hyperthermia, swelling, erythema, warmth as well as local tenderness and purulent discharge at Stensen duct during the massage of the parotid. The clinical diagnosis is confirmed by ultrasound and by culture of parotid purulent secretion. They are mainly of nosocomial origin and are generally caused by prematurity and dehydration. Early treatment improves patient outcome. Risk factors such as age should lead clinicians to start empiric antibiotic therapy first and then antibiotic therapy based on direct examination of pus extracted from Stensen duct. Staphylococcus aureus, Streptococcus Viridans and anaerobic germs are most commonly isolated. Acute parotiditis are extremely rare in the neonatal period: less than 50 cases have been reported in the literature. We here report three rather peculiar cases. The diagnosis was suspected on the basis of signs of local inflammation.

Pigmented well-differentiated hepatocellular neoplasm with beta-catenin mutation.

PubMed

Souza, Lara Neves; de Martino, Rodrigo Bronze; Thompson, Richard; Strautnieks, Sandra; Heaton, Nigel D; Quaglia, Alberto

2015-12-01

According to the most recent WHO classification of hepatocellular adenomas, a small percentage of inflammatory hepatocellular adenomas presents with mutation in the beta-catenin gene and are at higher risk of malignant transformation. It has been recognized that adenoma-like hepatocellular neoplasms with focal atypia, or in unusual clinical context present with similar cytogenetic and immunohistochemistry characteristics to well-differentiated hepatocellular carcinomas. We report a case of a well-differentiated hepatocellular neoplasm with Dubin-Johnson-like pigment displaying histological features overlapping with a beta-catenin mutated inflammatory adenoma and a well-differentiated hepatocellular carcinoma in a non-cirrhotic liver. The patient was a 48-year-old woman, who was asymptomatic, and had a clinical history of intra-uterine exposure to diethylstilbestrol, previous cancers and past oral contraceptive use. The recently proposed term "well-differentiated hepatocellular neoplasm of uncertain malignant potential" should be applied in such cases to highlight the different pathogenesis and risk of malignancy compared to the typical adenomas, and to suggest a careful and customized clinical management.

Tularaemia: clinical aspects in Europe.

PubMed

Maurin, Max; Gyuranecz, Miklós

2016-01-01

Tularaemia is a zoonotic disease caused by Francisella tularensis, a Gram-negative, facultative intracellular bacterium. Typically, human and animal infections are caused by F tularensis subspecies tularensis (type A) strains mainly in Canada and USA, and F tularensis subspecies holarctica (type B) strains throughout the northern hemisphere, including Europe. In the past, the epidemiological, clinical, therapeutic, and prognostic aspects of tularaemia reported in the English medical literature were mainly those that had been reported in the USA, where the disease was first described. Tularaemia has markedly changed in the past decade, and a large number of studies have provided novel data for the disease characteristics in Europe. In this Review we aim to emphasise the specific and variable aspects of tularaemia in different European countries. In particular, two natural lifecycles of F tularensis have been described in this continent, although not fully characterised, which are associated with different modes of transmission, clinical features, and public health burdens of tularaemia. Copyright © 2016 Elsevier Ltd. All rights reserved.

Is adermatoglyphia an additional feature of Kindler Syndrome?

PubMed

Almeida, Hiram Larangeira de; Goetze, Fernanda Mendes; Fong, Kenneth; Lai-Cheong, Joey; McGrath, John

2015-01-01

A typical feature of Kindler Syndrome is skin fragility; this condition in currently classified as a form of epidermolysis bullosa. We describe a rarely reported feature of two cases, one sporadic and one familial; both patients noticed acquired adermatoglyphia. The loss of dermatoglyphics could be an additional feature of this syndrome.

[Scurvy. A rare differential diagnosis of rheumatic diseases].

PubMed

Hofheinz, K; Ganzleben, I; Schliep, S; Wacker, J; Schett, G; Manger, B

2016-03-01

In December 2014 a patient presented to our clinic with the clinical symptoms of vasculitis. However, treatment with glucocorticoids did not lead to any improvement; therefore, the differential diagnostics were extended to other indications and ultimately led to the diagnosis of scurvy. This article describes the clinical picture of scurvy and its relationship to rheumatic diseases based on a clinical case and additional information from the literature. Differences and similarities with important rheumatological disease symptoms are presented. Scurvy is a rare hypovitaminosis disease which can be manifested in different forms. In addition to vasculitis the symptoms can also resemble arthritis and hemarthrosis is a typical finding. These symptoms can be accompanied by unspecific manifestations, such as muscle pain and due to impaired collagen synthesis characteristic features, such as corkscrew hair can be observed. The causal therapy of scurvy is substitution of ascorbic acid. Scurvy is a rare differential diagnosis in the context of rheumatic diseases. The indications for scurvy can be a lack of response to immunosuppressive and immunomodulatory drugs as well as individual symptoms, such as corkscrew hair.

Aggressive behavior and anaplasia in pleomorphic xanthoastrocytoma: a plea for a revision of the current WHO classification.

PubMed

Kahramancetin, Nesibe; Tihan, Tarik

2013-11-01

Pleomorphic xanthoastrocytoma (PXA) is a rare astrocytic neoplasm that commonly affects children and young adults, and presents with seizures. PXA is typically supratentorial with a predilection to the temporal lobe, and often involves the cortex and the meninges. PXAs have a favorable prognosis with a 10-year survival probability of >70%, and are WHO grade II neoplasms. Recent observations and studies demonstrate that PXAs are clinically, histologically and genetically distinct. Some PXAs recur and exhibit aggressive clinical behavior. In such cases, certain histological and clinical factors could account for the aggressive behavior. However, the histological features that predict adverse outcome are poorly defined. In the current WHO classification of CNS tumors, there is no option for a high-grade PXA, even if the tumor had numerous recurrences and poor outcome. In this review, we focus on aggressive clinical behavior and anaplasia in PXA, and discuss how our current experience suggests modifications in the current WHO classification. We also review recent discoveries on the molecular characteristics of PXA that could help us better understand their biological behavior.

Is tapentadol different from classical opioids? A review of the evidence

PubMed Central

Langford, Richard M; Knaggs, Roger; Farquhar-Smith, Paul; Dickenson, Anthony H

2016-01-01

Tapentadol is a single molecule able to deliver analgesia by two distinct mechanisms, a feature which differentiates it from many other analgesics. Pre-clinical data demonstrate two mechanisms of action: mu-opioid receptor agonist activity and noradrenaline re-uptake inhibition. From these, one may predict that tapentadol would be applicable across a broad spectrum of pain from nociceptive to neuropathic. The evidence in animal models suggests that norepinephrine re-uptake inhibition (NRI) is a key mechanism and may even predominate over opioid actions in chronic (and especially neuropathic) pain states, reinforcing that tapentadol is different to classical opioids and may, therefore, be an a priori choice for the treatment of neuropathic and mixed pain. The clinical studies and subsequent practice experience and surveillance support the concept of opioid and non-opioid mechanisms of action. The reduced incidence of some of the typical opioid-induced side effects, compared to equianalgesic doses of classical opioids, supports the hypothesis that tapentadol analgesia is only partially mediated by opioid agonist mechanisms. Both the pre-clinical and clinical profiles appear to be differentiated from those of classical opioids. PMID:27867511

Is tapentadol different from classical opioids? A review of the evidence.

PubMed

Langford, Richard M; Knaggs, Roger; Farquhar-Smith, Paul; Dickenson, Anthony H

2016-11-01

Tapentadol is a single molecule able to deliver analgesia by two distinct mechanisms, a feature which differentiates it from many other analgesics. Pre-clinical data demonstrate two mechanisms of action: mu-opioid receptor agonist activity and noradrenaline re-uptake inhibition. From these, one may predict that tapentadol would be applicable across a broad spectrum of pain from nociceptive to neuropathic. The evidence in animal models suggests that norepinephrine re-uptake inhibition (NRI) is a key mechanism and may even predominate over opioid actions in chronic (and especially neuropathic) pain states, reinforcing that tapentadol is different to classical opioids and may, therefore, be an a priori choice for the treatment of neuropathic and mixed pain. The clinical studies and subsequent practice experience and surveillance support the concept of opioid and non-opioid mechanisms of action. The reduced incidence of some of the typical opioid-induced side effects, compared to equianalgesic doses of classical opioids, supports the hypothesis that tapentadol analgesia is only partially mediated by opioid agonist mechanisms. Both the pre-clinical and clinical profiles appear to be differentiated from those of classical opioids.

[Negative symptoms of schizophrenia: historical aspects].

PubMed

Pringuey, D; Paquin, N; Cherikh, F; Giordana, B; Belzeaux, R; Cermolacce, M; Adida, M; Azorin, J-M

2015-12-01

The history of negative symptoms of schizophrenia rises early days of medicine in clinical and pathophysiological differences between positive and negative and their complex joint. Forming a set of typical core of symptoms, and some feature of a syndrome belonging to a specific pathophysiological mechanism, negative symptoms of schizophrenia emerge from old descriptions of clinical pictures, related to the overall look of madness, the heart of alienation, a central sign of early dementia, gradually more precisely describing the strange nature of the autistic withdrawal and schizophrenic apragmatism. At therapeutic era, negative symptoms have taken over the positive symptoms to establish an operational criteria whose importance lies in the progressive severity of this clinical type and in their contribution to therapeutic resistance. Despite the efforts of modern typological classifications, this work rehabilitates the old concept of "unitary psychosis" by defining a common symptomatic core to multiple clinical forms of psychosis, combining deficit of emotional expression and avolition, meaning a native psychopathology and a pathophysiology possibly in a common final way, and calling the arrival of new treatment strategies. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Exertional rhabdomyolysis: a clinical review with a focus on genetic influences.

PubMed

Landau, Mark E; Kenney, Kimbra; Deuster, Patricia; Campbell, William

2012-03-01

In this review, the clinical and laboratory features of exertional rhabdomyolysis (ER) are discussed in detail, emphasizing the full clinical spectrum from physiological elevations of serum creatine kinase after exertion to life-threatening rhabdomyolysis with acute kidney injury and associated systemic complications. Laboratory markers used to diagnose both ER and rhabdomyolysis are very sensitive, but not very specific, and imperfectly distinguish "subclinical" or asymptomatic from severe, life-threatening illness. However, genetic factors, both recognized and yet to be discovered, likely influence this diverse clinical spectrum of disease and response to exercise. Genetic mutations causative for McArdle disease, carnitine palmitoyl transferase deficiency 2, myoadenylate deaminase deficiency, and malignant hyperthermia have all been associated with ER. Polymorphic variations in the myosin light chain kinase, α-actin 3, creatine kinase-muscle isoform, angiotensin I-converting enzyme, heat shock protein, and interleukin-6 genes have also been associated with either ER or exercise-induced serum creatine kinase elevations typical of ER. The prognosis for ER is significantly better than that for other etiologies of rhabdomyolysis, but the risk of recurrence after an initial episode is unknown. Guidelines for management are provided.

Management of inflammatory bowel disease in older persons: evolving paradigms

PubMed Central

Kedia, Saurabh; Limdi, Jimmy K.

2018-01-01

The incidence and prevalence of inflammatory bowel disease (IBD) is increasing, and considering the aging population, this number is set to increase further in the future. The clinical features and natural history of elderly-onset IBD have many similarities with those of IBD in younger patients, but with significant differences including a broader differential diagnosis. The relative lack of data specific to elderly patients with IBD, often stemming from their typical exclusion from clinical trials, has made clinical decision-making somewhat challenging. Treatment decisions in elderly patients with IBD must take into account age-specific concerns such as comorbidities, locomotor and cognitive function, and polypharmacy, to set realistic treatment targets in order to enable personalized treatment and minimize harm. Notwithstanding paucity of clinical data, recent studies have provided valuable insights, which, taken together with information gleaned from previous studies, can broaden our understanding of IBD. These insights may contribute to the development of paradigms for the holistic and, when possible, evidence-based management of this potentially vulnerable population and are the focus of this review. PMID:29743832

Epidemiological findings and clinical and magnetic resonance presentations in subacute sclerosing panencephalitis.

PubMed

Cece, H; Tokay, L; Yildiz, S; Karakas, O; Karakas, E; Iscan, A

2011-01-01

Subacute sclerosing panencephalitis (SSPE) is a rare, progressive, inflammatory neurodegenerative disease. This study investigated the relationships of clinical stage with epidemiological and magnetic resonance imaging (MRI) findings in SSPE by retrospective review of 76 cases (57 male) diagnosed by typical periodic electroencephalographic features, clinical symptoms and elevated measles antibody titre in cerebrospinal fluid. Clinical stage at diagnosis was I or II in 48 patients, III in 25 and IV in three. Prominent findings at presentation were atonic/myoclonic seizures (57.9%) and mental deterioration with behaviour alteration (30.3%). Frequent MRI findings (13 - 32 patients) were subcortical, periventricular and cortical involvement and brain atrophy; the corpus callosum, basal ganglia, cerebellum and brainstem were less frequently involved. Five patients had pseudotumour cerebri. Cranial MRI at initial diagnosis was normal in 21 patients (19 stage I/II, two stage III/IV). Abnormal MRI findings were significantly more frequent in the later stages, thus a normal initial cranial MRI does not exclude SSPE, which should, therefore, be kept in mind in childhood demyelinating diseases even when the presentation is unusual.

Delayed-onset and recurrent limb weakness associated with West Nile virus infection.

PubMed

Sejvar, James J; Davis, Larry E; Szabados, Erica; Jackson, Alan C

2010-02-01

Human neurologic illness following infection with West Nile virus (WNV) may include meningitis, encephalitis, and acute flaccid paralysis (AFP). Most WNV-associated AFP is due to involvement of the spinal motor neurons producing an anterior (polio)myelitis. WNV poliomyelitis is typically characterized by acute and rapidly progressing limb weakness occurring early in the course of illness, which is followed by death or clinical plateauing with subsequent improvement to varying degrees. We describe four cases of WNV poliomyelitis in which the limb weakness was characterized by an atypical temporal pattern, including one case with onset several weeks after illness onset, and three cases developing relapsing or recurrent limb weakness following a period of clinical plateauing or improvement. Delayed onset or recurrent features may be due to persistence of viral infection or delayed neuroinvasion with delayed injury by excitotoxic or other mechanisms, by immune-mediated mechanisms, or a combination thereof. Further clinical and pathogenesis studies are needed to better understand the mechanisms for these phenomena. Clinicians should be aware of these clinical patterns in patients with WNV poliomyelitis.

GENDER ROLE AND PERSONALITY DISORDERS

PubMed Central

Klonsky, E. David; Jane, J. Serrita; Turkheimer, Eric; Oltmanns, Thomas F.

2015-01-01

Many researchers have hypothesized relationships between personality disorders and gender role (i.e., masculinity and femininity). However, research has not addressed if people who are masculine or feminine more often meet the criteria for personality disorders. The present study examined whether college students (N = 665, 60% women) higher in masculinity or femininity more often exhibited features of the 10 DSM-IV personality disorders. Feminine men exhibited more features of all the personality disorders except antisocial. Dependent traits were associated with higher femininity and lower masculinity. Antisocial traits were associated with masculinity. Both men and women who typically behaved consistent with their gender had more narcissistic and histrionic features, whereas participants who typically behaved unlike their gender had more features of the Cluster A personality disorders. PMID:12489312

Clinical features of and risk factors for major depression with history of postpartum episodes in Han Chinese women: A retrospective study.

PubMed

Yang, Fuzhong; Gardner, Charles O; Bigdeli, Tim; Gao, Jingfang; Zhang, Zhen; Tao, Ming; Liu, Ying; Li, Youhui; Wang, Gang; Shi, Jianguo; Gao, Chengge; Zhang, Kerang; Li, Kan; Wang, Xumei; Liu, Lanfen; Sun, Jing; Du, Bo; Shi, Shenxun; Zhang, Jingbei; Wu, Wenyuan; Wang, Xueyi; Shen, Jianhua; Liu, Tiebang; Gu, Danhua; Liang, Wei; Deng, Hong; Pan, Jiyang; Yang, Lijun; Jian, Hu; Jiang, Guoqin; Meng, Huaqing; Miao, Guodong; Li, Yi; Hu, Chunmei; Huang, Guoping; Zhang, Yutang; Chen, Yunchun; Ha, Baowei; Gao, Shu; Fang, Xiang; Mei, Qiyi; Hong, Xiaohong; Yang, Donglin; Liu, Tieqiao; Fengyu, Yu; Zhong, Hui; Sang, Hong; Chen, Guibing; Cai, Min; Song, Yan; Dong, Jicheng; Shen, Zhenmin; Zhang, Wei; Wang, Xiaoping; Pan, Runde; Liu, Xiaojuan; Li, Yi; Liu, Zhengrong; Zhang, Qiwen; Li, Gongying; Flint, Jonathan; Kendler, Kenneth S

2015-09-01

We sought to investigate the clinical features of and risk factors for recurrent major depression (MD) with history of postpartum episodes (PPD) in Han Chinese women and the differences between first-onset postpartum MD (MD that has its first lifetime depressive episode in the postpartum period) and first-onset non-postpartum MD (MD with history of PPD and has its first lifetime depressive episode in a period other than postpartum). Data were derived from the China, Oxford and Virginia Commonwealth University Experimental Research on Genetic Epidemiology (CONVERGE) study (N=6017 cases) and analyzed in two steps. We first examined the clinical features of and risk factors for MD patients with (N=981) or without (N=4410) a history of PPD. We then compared the differences between first-onset postpartum MD (N=583) and first-onset non-postpartum MD (N=398) in those with a history of PPD. Linear, logistic and multinomial logistic models were employed to measure the associations. A history of PPD was associated with more guilt feelings, greater psychiatric comorbidity, higher neuroticism, earlier onset and more chronicity (OR 0.2-2.8). Severe premenstrual symptoms (PMS) and more childbirths increased the risk of PPD, as did a family history of MD, childhood sexual abuse, stressful life events and lack of social support (OR 1.1-1.3). In the MD with history of PPD subsample, first-onset postpartum MD was associated with fewer recurrent major depressive episodes, less psychiatric comorbidity, lower neuroticism, less severe PMS and fewer disagreements with their husbands (OR 0.5-0.8), but more childbirths (OR 1.2). Data were obtained retrospectively through interview and recall bias may have affected the results. MD with history of PPD in Han Chinese women is typically chronic and severe, with particular risk factors including severe PMS and more childbirths. First-onset postpartum MD and first-onset non-postpartum MD can be partly differentiated by their clinical features and risk factors, but are not clearly distinctive. Copyright © 2015. Published by Elsevier B.V.

Actinomycosis: etiology, clinical features, diagnosis, treatment, and management

PubMed Central

Valour, Florent; Sénéchal, Agathe; Dupieux, Céline; Karsenty, Judith; Lustig, Sébastien; Breton, Pierre; Gleizal, Arnaud; Boussel, Loïc; Laurent, Frédéric; Braun, Evelyne; Chidiac, Christian; Ader, Florence; Ferry, Tristan

2014-01-01

Actinomycosis is a rare chronic disease caused by Actinomyces spp., anaerobic Gram-positive bacteria that normally colonize the human mouth and digestive and genital tracts. Physicians must be aware of typical clinical presentations (such as cervicofacial actinomycosis following dental focus of infection, pelvic actinomycosis in women with an intrauterine device, and pulmonary actinomycosis in smokers with poor dental hygiene), but also that actinomycosis may mimic the malignancy process in various anatomical sites. Bacterial cultures and pathology are the cornerstone of diagnosis, but particular conditions are required in order to get the correct diagnosis. Prolonged bacterial cultures in anaerobic conditions are necessary to identify the bacterium and typical microscopic findings include necrosis with yellowish sulfur granules and filamentous Gram-positive fungal-like pathogens. Patients with actinomycosis require prolonged (6- to 12-month) high doses (to facilitate the drug penetration in abscess and in infected tissues) of penicillin G or amoxicillin, but the duration of antimicrobial therapy could probably be shortened to 3 months in patients in whom optimal surgical resection of infected tissues has been performed. Preventive measures, such as reduction of alcohol abuse and improvement of dental hygiene, may limit occurrence of pulmonary, cervicofacial, and central nervous system actinomycosis. In women, intrauterine devices must be changed every 5 years in order to limit the occurrence of pelvic actinomycosis. PMID:25045274

Sequential Combination Therapy Leading to Sustained Remission in a Patient with SAPHO Syndrome

PubMed Central

Huber, C.E; Judex, A.G; Freyschmidt, J; Feuerbach, S; Schölmerich, J; Müller-Ladner, U

2009-01-01

The SAPHO syndrome represents a variety of clinically similar disorders with the key features of hyperostotic bone lesions in combination with chronic pustular skin disease. The respective pathophysiology of bone and joint manifestations in SAPHO syndrome is still a matter of discussion. For example it does not appear to represent reactive arthritis and HLA B27 antigen, with the latter being typically present in patients with spondyloarthopathies. Treatment of SAPHO syndrome is also not well established and consists of various antiinflammatory and antirheumatic drugs. Here, we report a female patient with active SAPHO syndrome suffering from sternal swelling of unknown origin that had been known for 10 years and a 4-year-history of severe lower back pain. Remarkable were also a typical pustulous palmar erythema associated with swelling and decreased motility of both MCP-I joints. Inflammation parameters were high with an ESR 68 mm/1st hour and a CRP of 19.6 mg/l. She was initially treated with rofecoxib and doxycycline, followed by sulfasalazine with only partial clinical response. Thereafter, both articular symptoms as well as cutaneous lesions responded well to a combination therapy with methotrexate and sulfasalazine. Thus, the case illustrates nicely that methotrexate in combination with another DMARD can be successfully applied to patients with long-term active SAPHO syndrome. PMID:19471601

Sequential Combination Therapy Leading to Sustained Remission in a Patient with SAPHO Syndrome.

PubMed

Huber, C E; Judex, A G; Freyschmidt, J; Feuerbach, S; Schölmerich, J; Müller-Ladner, U

2009-03-27

The SAPHO syndrome represents a variety of clinically similar disorders with the key features of hyperostotic bone lesions in combination with chronic pustular skin disease. The respective pathophysiology of bone and joint manifestations in SAPHO syndrome is still a matter of discussion. For example it does not appear to represent reactive arthritis and HLA B27 antigen, with the latter being typically present in patients with spondyloarthopathies. Treatment of SAPHO syndrome is also not well established and consists of various antiinflammatory and antirheumatic drugs. Here, we report a female patient with active SAPHO syndrome suffering from sternal swelling of unknown origin that had been known for 10 years and a 4-year-history of severe lower back pain. Remarkable were also a typical pustulous palmar erythema associated with swelling and decreased motility of both MCP-I joints. Inflammation parameters were high with an ESR 68 mm/1st hour and a CRP of 19.6 mg/l. She was initially treated with rofecoxib and doxycycline, followed by sulfasalazine with only partial clinical response. Thereafter, both articular symptoms as well as cutaneous lesions responded well to a combination therapy with methotrexate and sulfasalazine. Thus, the case illustrates nicely that methotrexate in combination with another DMARD can be successfully applied to patients with long-term active SAPHO syndrome.

Relationship Between Metabolic Syndrome and Clinical Features, and Its Personal-Social Performance in Patients with Schizophrenia.

PubMed

Saatcioglu, Omer; Kalkan, Murat; Fistikci, Nurhan; Erek, Sakire; Kilic, Kasim Candas

2016-06-01

The aim of this study was to evaluate the metabolic syndrome (MS) criteria and also to investigate the effects of MS on medical treatment, clinical course and personal and social performance in patients with schizophrenia. One hundred-sixteen patients with schizophrenia were included in the study. Measurements of MS were calculated in all patients. Brief Psychiatric Rating Scale, Scale for the Assessment of Positive Symptoms, Scale for the Assessment of Negative Symptoms, Calgary Depression Scale for Schizophrenia, Personal and Social Performance Scale (PSP) were applied. The frequency of MS according to IDF criteria was 42.2 % among the patients. There was no significant difference between patients with and without MS in terms of age. The ratios of MS were 62.5 % for the group taking typical and atypical antipsychotics together and 35.7 % for the group taking two or more atypical antipsychotics together. The duration of disorder in patients with MS was higher than those without MS. Furthermore there was no significant difference between the schizophrenic patients with and without MS, in terms of PSP scores. Our findings showed that the duration of illness, high scores of BMI, use of clozapine or concurrent use of typical and atypical antipsychotics, depressive and negative symptoms of schizophrenia were significant risk factors for the development of MS.

Erlotinib augmentation with dapsone for rash mitigation and increased anti-cancer effectiveness.

PubMed

Kast, R E

2015-01-01

The epidermal growth factor receptor tyrosine kinase inhibitor erlotinib has failed in many ways to be as potent in the anti-cancer role as pre-clinical studies would have suggested. This paper traces some aspects of this failure to a compensatory erlotinib-mediated increase in interleukin-8. Many other-but not all- cancer chemotherapeutic cytotoxic drugs also provoke a compensatory increase in a malignant clone's interleukin-8 synthesis. Untreated glioblastoma and other cancer cells themselves natively synthesize interleukin-8. Interleukin-8 has tumor growth promoting, mobility and metastasis formation enhancing, effects as well as pro-angiogenesis effects. The old sulfone antibiotic dapsone- one of the very first antibiotics in clinical use- has demonstrated several interleukin-8 system inhibiting actions. Review of these indicates dapsone has potential to augment erlotinib effectiveness. Erlotinib typically gives a rash that has recently been proven to come about via an erlotinib triggered up-regulated keratinocyte interleukin-8 synthesis. The erlotinib rash shares histological features reminiscent of typical neutrophilic dermatoses. Dapsone has an established therapeutic role in current treatment of other neutrophilic dermatoses. Thus, dapsone has potential to both improve the quality of life in erlotinib treated patients by amelioration of rash as well as to short-circuit a growth-enhancing aspect of erlotinib when used in the anti-cancer role.

Ocular toxoplasmosis II: clinical features, pathology and management

PubMed Central

Butler, Nicholas J; Furtado, João M; Winthrop, Kevin L; Smith, Justine R

2014-01-01

The term, ocular toxoplasmosis, refers to eye disease related to infection with the parasite, Toxoplasma gondii. Recurrent posterior uveitis is the typical form of this disease, characterized by unilateral, necrotizing retinitis with secondary choroiditis, occurring adjacent to a pigmented retinochoroidal scar and associated with retinal vasculitis and vitritis. Multiple atypical presentations are also described, and severe inflammation is observed in immunocompromised patients. Histopathological correlations demonstrate focal coagulative retinal necrosis, and early in the course of the disease, this inflammation is based in the inner retina. For typical ocular toxoplasmosis, a diagnosis is easily made on clinical examination. In atypical cases, ocular fluid testing to detect parasite DNA by polymerase chain reaction or to determine intraocular production of specific antibody may be extremely helpful for establishing aetiology. Given the high seroprevalence of toxoplasmosis in most communities, serological testing for T. gondii antibodies is generally not useful. Despite a lack of published evidence for effectiveness of current therapies, most ophthalmologists elect to treat patients with ocular toxoplasmosis that reduces or threatens to impact vision. Classic therapy consists of oral pyrimethamine and sulfadiazine, plus systemic corticosteroid. Substantial toxicity of this drug combination has spurred interest in alternative antimicrobials, as well as local forms of drug delivery. At this time, however, no therapeutic approach is curative of ocular toxoplasmosis. PMID:22712598

Cataplectic facies: clinical marker in the diagnosis of childhood narcolepsy-report of two cases.

PubMed

Prasad, Manish; Setty, Gururaj; Ponnusamy, Athi; Hussain, Nahin; Desurkar, Archana

2014-05-01

Narcolepsy is a chronic disease and is commonly diagnosed in adulthood. However, more than half of the patients have onset of symptoms in childhood and/or adolescence. The full spectrum of clinical manifestations, namely excessive daytime sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis, is usually not present at disease onset, delaying diagnosis during childhood. Mean delay in diagnosis since symptom onset is known to be several years. Initial manifestations can sometimes be as subtle as only partial drooping of eyelids leading to confusion with a myasthenic condition. We present two children who presented with "cataplectic facies," an unusual facial feature only recently described in children with narcolepsy with cataplexy. The diagnosis of narcolepsy was confirmed by multiple sleep latency test along with human leukocyte antigen typing and cerebrospinal fluid hypocretin assay. The diagnosis of narcolepsy with cataplexy at onset can be challenging in young children. With more awareness of subtle signs such as cataplectic facies, earlier diagnosis is possible. To date, only 11 children between 6 and 18 years of age presenting with typical cataplectic facies have been reported in the literature. We present two patients, one of whom is the youngest individual (4 years old) yet described with the typical cataplectic facies. Copyright © 2014 Elsevier Inc. All rights reserved.

Prevalence of nocturnal frontal lobe epilepsy in the adult population of Bologna and Modena, Emilia-Romagna region, Italy.

PubMed

Vignatelli, Luca; Bisulli, Francesca; Giovannini, Giada; Licchetta, Laura; Naldi, Ilaria; Mostacci, Barbara; Rubboli, Guido; Provini, Federica; Tinuper, Paolo; Meletti, Stefano

2015-03-01

To estimate the prevalence of nocturnal frontal lobe epilepsy (NFLE) in the adults of two areas of the Emilia-Romagna region (northeast Italy) and to describe the clinical features from a population-based perspective. Population-based retrospective cohort study including adults with NFLE. Two areas of the Emilia-Romagna region: the city of Bologna (330,901 adult residents) and five districts of the province of Modena (424,007). Prevalence day: December 31, 2010. Patients with NFLE collected from multiple databases of neurologic hub centers of the districts involved. Diagnostic criteria: clinical history of sleep related bizarre motor attacks and videopolysomnographic recording confirming the typical features of NFLE. Inclusion criteria for prevalence calculation: residence in one of the two geographic areas on the prevalence day and an "active" or "in remission with treatment" form of NFLE. Six subjects from Bologna and eight from Modena were included. Crude prevalence (per 100,000 residents) was 1.8 (95% confidence interval 0.7-4.0) in Bologna and 1.9 (0.8-3.7) in Modena. Similarly, the main clinical features were consistent: onset during adolescence (median age 11-13 y), mainly hyperkinetic seizures, nonlesional form in more than two-thirds of cases, an active form of epilepsy in more than two-thirds of cases. A family history of epilepsy was reported only for two patients. This epidemiologic study establishes that NFLE is a rare epileptic condition, fulfilling the definition for rare disease. Because of methodological limitations of our case ascertainment, the estimates we disclose must be considered the minimum prevalence. © 2015 Associated Professional Sleep Societies, LLC.

Pruritic papular eruption and eosinophilic folliculitis associated with human immunodeficiency virus (HIV) infection: a histopathological and immunohistochemical comparative study.

PubMed

Afonso, João Paulo Junqueira Magalhães; Tomimori, Jane; Michalany, Nilceo Schwery; Nonogaki, Suely; Porro, Adriana Maria

2012-08-01

Among the papular-pruriginous dermatoses related to human immunodeficiency (HIV) infection, two entities remain poorly differentiated leading to confusion in their diagnosis: HIV-related pruritic papular eruption (HIV-PPE or prurigo) and eosinophilic folliculitis (HIV-EF). To establish histopathological and immunohistochemical parameters to differentiate between two conditions associated with HIV infection, the pruritic papular eruption (HIV-PPE) and eosinophilic folliculitis (HIV-EF). Clinically typical HIV-PPE (18 cases) and HIV-EF (10 cases) cases were compared with each other in terms of the following topics: clinical and laboratory features (gender, age, CD4+ cell and eosinophil count), histopathological features (hematoxylin-eosin and toluidine blue staining) and immunohistochemical features (anti-CD1a, anti-CD4, anti-CD7, anti-CD8, anti-CD15, anti-CD20, anti-CD30, anti-CD68/macrophage and anti-S-100 reactions). Among the HIV-EF patients, we found an intense perivascular and diffuse inflammatory infiltration compared with those patients with HIV-PPE. The tissue mast cell count by toluidine staining was higher in the HIV-EF patients, who also presented higher expression levels of CD15 (for eosinophils), CD4 (T helper), and CD7 (pan-T lymphocytes) than the HIV-PPE patients. Only quantitative differences and not qualitative differences were found. These data indicate that HIV-related PPE and EF could possibly be differentiated by histopathological and immunohistochemical findings in addition to clinical characteristics. In fact, these two inflammatory manifestations could be within the spectrum of the same disease because only quantitative, and not qualitative, differences were found. Copyright © 2011 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

Stress fractures: pathophysiology, clinical presentation, imaging features, and treatment options.

PubMed

Matcuk, George R; Mahanty, Scott R; Skalski, Matthew R; Patel, Dakshesh B; White, Eric A; Gottsegen, Christopher J

2016-08-01

Stress fracture, in its most inclusive description, includes both fatigue and insufficiency fracture. Fatigue fractures, sometimes equated with the term "stress fractures," are most common in runners and other athletes and typically occur in the lower extremities. These fractures are the result of abnormal, cyclical loading on normal bone leading to local cortical resorption and fracture. Insufficiency fractures are common in elderly populations, secondary to osteoporosis, and are typically located in and around the pelvis. They are a result of normal or traumatic loading on abnormal bone. Subchondral insufficiency fractures of the hip or knee may cause acute pain that may present in the emergency setting. Medial tibial stress syndrome is a type of stress injury of the tibia related to activity and is a clinical syndrome encompassing a range of injuries from stress edema to frank-displaced fracture. Atypical subtrochanteric femoral fracture associated with long-term bisphosphonate therapy is also a recently discovered entity that needs early recognition to prevent progression to a complete fracture. Imaging recommendations for evaluation of stress fractures include initial plain radiographs followed, if necessary, by magnetic resonance imaging (MRI), which is preferred over computed tomography (CT) and bone scintigraphy. Radiographs are the first-line modality and may reveal linear sclerosis and periosteal reaction prior to the development of a frank fracture. MRI is highly sensitive with findings ranging from periosteal edema to bone marrow and intracortical signal abnormality. Additionally, a brief description of relevant clinical management of stress fractures is included.

An Overview of Pathways of Regulated Necrosis in Acute Kidney Injury.

PubMed

Kers, Jesper; Leemans, Jaklien C; Linkermann, Andreas

2016-05-01

Necrosis is the predominant form of regulated cell death in acute kidney injury (AKI) and represents results in the formation of casts that appear in the urine sedimentation, referred to as muddy brown casts, which are part of the diagnosis of AKI. Pathologists referred to this typical feature as acute tubular necrosis. We are only beginning to understand the dynamics and the molecular pathways that underlie such typical necrotic morphology. In this review, we provide an overview of candidate pathways and summarize the emerging evidence for the relative contribution of these pathways of regulated necrosis, such as necroptosis, ferroptosis, mitochondrial permeability transition-mediated regulated necrosis, parthanatos, and pyroptosis. Inhibitors of each of these pathways are available, and clinical trials may be started after the detection of the most promising drug targets, which will be discussed here. With the global burden of AKI in mind, inhibitiors of regulated necrosis represent promising means to prevent this disease. Copyright © 2016 Elsevier Inc. All rights reserved.

Pitfalls in soft tissue sarcoma imaging: chronic expanding hematomas.

PubMed

Jahed, Kiarash; Khazai, Behnaz; Umpierrez, Monica; Subhawong, Ty K; Singer, Adam D

2018-01-01

Solid or nodular enhancement is typical of soft tissue sarcomas although high grade soft tissue sarcomas and those with internal hemorrhage often appear heterogeneous with areas of nonenhancement and solid or nodular enhancement. These MRI findings often prompt an orthopedic oncology referral, a biopsy or surgery. However, not all masses with these imaging findings are malignant. We report the multimodality imaging findings of two surgically proven chronic expanding hematomas (CEH) with imaging features that mimicked sarcomas. A third case of nonenhancing CEH of the lower extremity is also presented as a comparison. It is important that in the correct clinical scenario with typical imaging findings, the differential diagnosis of a chronic expanding hematoma be included in the workup of these patients. An image-guided biopsy of nodular tissue within such masses that proves to be negative for malignancy should not necessarily be considered discordant. A correct diagnosis may prevent a morbid unnecessary surgery and may indicate the need for a conservative noninvasive follow-up with imaging.

Far East Scarlet-Like Fever: A Review of the Epidemiology, Symptomatology, and Role of Superantigenic Toxin: Yersinia pseudotuberculosis-Derived Mitogen A

PubMed Central

Amphlett, A.

2016-01-01

Far East scarlet-like fever (FESLF) is a severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan. Far East scarlet-like fever is caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe. Studies suggest the ability of Far Eastern strains to produce superantigen toxin Y pseudotuberculosis-derived mitogen A is integral to FESLF pathogenesis. In Europe, human Y pseudotuberculosis infection typically occurs sporadically, in the form of a self-limiting gastroenteritis. In Russia and Japan, outbreaks of Y pseudotuberculosis infection cause severe systemic inflammatory symptoms. This disease variant is called FESLF. Geographical heterogeneity exists between virulence factors produced by European and Far Eastern Y pseudotuberculosis strains, implicating superantigen Y pseudotuberculosis-derived mitogen A (YPMa) in the pathogenesis of FESLF. This article describes the epidemiology and clinical features of FESLF, and it presents the evidence for the role of YPMa in FESLF pathogenesis. PMID:26819960

Far East Scarlet-Like Fever: A Review of the Epidemiology, Symptomatology, and Role of Superantigenic Toxin: Yersinia pseudotuberculosis-Derived Mitogen A.

PubMed

Amphlett, A

2016-01-01

Far East scarlet-like fever (FESLF) is a severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan. Far East scarlet-like fever is caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe. Studies suggest the ability of Far Eastern strains to produce superantigen toxin Y pseudotuberculosis-derived mitogen A is integral to FESLF pathogenesis. In Europe, human Y pseudotuberculosis infection typically occurs sporadically, in the form of a self-limiting gastroenteritis. In Russia and Japan, outbreaks of Y pseudotuberculosis infection cause severe systemic inflammatory symptoms. This disease variant is called FESLF. Geographical heterogeneity exists between virulence factors produced by European and Far Eastern Y pseudotuberculosis strains, implicating superantigen Y pseudotuberculosis-derived mitogen A (YPMa) in the pathogenesis of FESLF. This article describes the epidemiology and clinical features of FESLF, and it presents the evidence for the role of YPMa in FESLF pathogenesis.

Measuring Mindreading: A Review of Behavioral Approaches to Testing Cognitive and Affective Mental State Attribution in Neurologically Typical Adults.

PubMed

Turner, Rose; Felisberti, Fatima M

2017-01-01

Mindreading refers to the ability to attribute mental states, including thoughts, intentions and emotions, to oneself and others, and is essential for navigating the social world. Empirical mindreading research has predominantly featured children, groups with autism spectrum disorder and clinical samples, and many standard tasks suffer ceiling effects with neurologically typical (NT) adults. We first outline a case for studying mindreading in NT adults and proceed to review tests of emotion perception, cognitive and affective mentalizing, and multidimensional tasks combining these facets. We focus on selected examples of core experimental paradigms including emotion recognition tests, social vignettes, narrative fiction (prose and film) and participative interaction (in real and virtual worlds), highlighting challenges for studies with NT adult cohorts. We conclude that naturalistic, multidimensional approaches may be productively applied alongside traditional tasks to facilitate a more nuanced picture of mindreading in adulthood, and to ensure construct validity whilst remaining sensitive to variation at the upper echelons of the ability.

[Imaging of the elbow joint with focus MRI. Part 2: muscles, nerves and synovial membranes].

PubMed

Rehm, J; Zeifang, F; Weber, M-A

2014-03-01

This review article discusses the magnetic resonance imaging (MRI) features and pathological changes of muscles, nerves and the synovial lining of the elbow joint. Typical imaging findings are illustrated and discussed. In addition, the cross-sectional anatomy and anatomical variants, such as accessory muscles and plicae are discussed. Injuries of the muscles surrounding the elbow joint, as well as chronic irritation are particularly common in athletes. Morphological changes in MRI, for example tennis or golfer's elbow are typical and often groundbreaking. By adapting the examination sequences, imaging planes and slices, complete and incomplete tendon ruptures can be reliably diagnosed. Although the clinical and electrophysiological examinations form the basis for the diagnosis of peripheral neuropathies, MRI provides useful additional information about the precise localization due to its high resolution and good soft tissue contrast and helps to rule out differential diagnoses. Synovial diseases, such as inflammatory arthritis, proliferative diseases and also impinging plicae must be considered in the MRI diagnostics of the elbow joint.

Sleep disorders in Parkinson's disease: a narrative review of the literature.

PubMed

Raggi, Alberto; Bella, Rita; Pennisi, Giovanni; Neri, Walter; Ferri, Raffaele

2013-01-01

Parkinson's disease (PD) is classically considered to be a motor system affliction; however, also non-motor alterations, including sleep disorders, are important features of the disease. The aim of this review is to provide data on sleep disturbances in PD in the following grouping: difficulty initiating sleep, frequent night-time awakening and sleep fragmentation, nocturia, restless legs syndrome/periodic limb movements, sleep breathing disorders, drug induced symptoms, parasomnias associated with rapid eye movements (REM) sleep, sleep attacks, reduced sleep efficiency and excessive daytime sleepiness. Research has characterized some of these disturbances as typical examples of dissociated states of wakefulness and sleep that are admixtures or incomplete declarations of wakefulness, REM sleep, and non-REM (NREM) sleep. Moreover, sleep disorders may precede the typical motor system impairment of PD and their ability to predict disease has important implications for development of neuroprotective treatment; in particular, REM sleep behavior disorder may herald any other clinical manifestation of PD by more than 10 years.

Measuring Mindreading: A Review of Behavioral Approaches to Testing Cognitive and Affective Mental State Attribution in Neurologically Typical Adults

PubMed Central

Turner, Rose; Felisberti, Fatima M.

2017-01-01

Mindreading refers to the ability to attribute mental states, including thoughts, intentions and emotions, to oneself and others, and is essential for navigating the social world. Empirical mindreading research has predominantly featured children, groups with autism spectrum disorder and clinical samples, and many standard tasks suffer ceiling effects with neurologically typical (NT) adults. We first outline a case for studying mindreading in NT adults and proceed to review tests of emotion perception, cognitive and affective mentalizing, and multidimensional tasks combining these facets. We focus on selected examples of core experimental paradigms including emotion recognition tests, social vignettes, narrative fiction (prose and film) and participative interaction (in real and virtual worlds), highlighting challenges for studies with NT adult cohorts. We conclude that naturalistic, multidimensional approaches may be productively applied alongside traditional tasks to facilitate a more nuanced picture of mindreading in adulthood, and to ensure construct validity whilst remaining sensitive to variation at the upper echelons of the ability. PMID:28174552

Mechanistic simulation of normal-tissue damage in radiotherapy—implications for dose-volume analyses

NASA Astrophysics Data System (ADS)

Rutkowska, Eva; Baker, Colin; Nahum, Alan

2010-04-01

A radiobiologically based 3D model of normal tissue has been developed in which complications are generated when 'irradiated'. The aim is to provide insight into the connection between dose-distribution characteristics, different organ architectures and complication rates beyond that obtainable with simple DVH-based analytical NTCP models. In this model the organ consists of a large number of functional subunits (FSUs), populated by stem cells which are killed according to the LQ model. A complication is triggered if the density of FSUs in any 'critical functioning volume' (CFV) falls below some threshold. The (fractional) CFV determines the organ architecture and can be varied continuously from small (series-like behaviour) to large (parallel-like). A key feature of the model is its ability to account for the spatial dependence of dose distributions. Simulations were carried out to investigate correlations between dose-volume parameters and the incidence of 'complications' using different pseudo-clinical dose distributions. Correlations between dose-volume parameters and outcome depended on characteristics of the dose distributions and on organ architecture. As anticipated, the mean dose and V20 correlated most strongly with outcome for a parallel organ, and the maximum dose for a serial organ. Interestingly better correlation was obtained between the 3D computer model and the LKB model with dose distributions typical for serial organs than with those typical for parallel organs. This work links the results of dose-volume analyses to dataset characteristics typical for serial and parallel organs and it may help investigators interpret the results from clinical studies.

Molecular testing for the clinical diagnosis of fibrolamellar carcinoma

PubMed Central

Graham, Rondell P; Yeh, Matthew M; Lam-Himlin, Dora; Roberts, Lewis R; Terracciano, Luigi; Cruise, Michael W; Greipp, Patricia T; Zreik, Riyam T; Jain, Dhanpat; Zaid, Nida; Salaria, Safia N; Jin, Long; Wang, Xiaoke; Rustin, Jeanette G; Kerr, Sarah E; Sukov, William R; Solomon, David A; Kakar, Sanjay; Waterhouse, Emily; Gill, Ryan M; Ferrell, Linda; Alves, Venancio AF; Nart, Deniz; Yilmaz, Funda; Roessler, Stephanie; Longerich, Thomas; Schirmacher, Peter; Torbenson, Michael S

2018-01-01

Fibrolamellar carcinoma has a distinctive morphology and immunophenotype, including cytokeratin 7 and CD68 co-expression. Despite the distinct findings, accurate diagnosis of fibrolamellar carcinoma continues to be a challenge. Recently, fibrolamellar carcinomas were found to harbor a characteristic somatic gene fusion, DNAJB1–PRKACA. A break-apart fluorescence in situ hybridization (FISH) assay was designed to detect this fusion event and to examine its diagnostic performance in a large, multicenter, multinational study. Cases initially classified as fibrolamellar carcinoma based on histological features were reviewed from 124 patients. Upon central review, 104 of the 124 cases were classified histologically as typical of fibrolamellar carcinoma, 12 cases as ‘possible fibrolamellar carcinoma’ and 8 cases as ‘unlikely to be fibrolamellar carcinoma’. PRKACA FISH was positive for rearrangement in 102 of 103 (99%) typical fibrolamellar carcinomas, 9 of 12 ‘possible fibrolamellar carcinomas’ and 0 of 8 cases ‘unlikely to be fibrolamellar carcinomas’. Within the morphologically typical group of fibrolamellar carcinomas, two tumors with unusual FISH patterns were also identified. Both cases had the fusion gene DNAJB1–PRKACA, but one also had amplification of the fusion gene and one had heterozygous deletion of the normal PRKACA locus. In addition, 88 conventional hepatocellular carcinomas were evaluated with PRKACA FISH and all were negative. These findings demonstrate that FISH for the PRKACA rearrangement is a clinically useful tool to confirm the diagnosis of fibrolamellar carcinoma, with high sensitivity and specificity. A diagnosis of fibrolamellar carcinoma is more accurate when based on morphology plus confirmatory testing than when based on morphology alone. PMID:28862261

Computer aided diagnosis based on medical image processing and artificial intelligence methods

NASA Astrophysics Data System (ADS)

Stoitsis, John; Valavanis, Ioannis; Mougiakakou, Stavroula G.; Golemati, Spyretta; Nikita, Alexandra; Nikita, Konstantina S.

2006-12-01

Advances in imaging technology and computer science have greatly enhanced interpretation of medical images, and contributed to early diagnosis. The typical architecture of a Computer Aided Diagnosis (CAD) system includes image pre-processing, definition of region(s) of interest, features extraction and selection, and classification. In this paper, the principles of CAD systems design and development are demonstrated by means of two examples. The first one focuses on the differentiation between symptomatic and asymptomatic carotid atheromatous plaques. For each plaque, a vector of texture and motion features was estimated, which was then reduced to the most robust ones by means of ANalysis of VAriance (ANOVA). Using fuzzy c-means, the features were then clustered into two classes. Clustering performances of 74%, 79%, and 84% were achieved for texture only, motion only, and combinations of texture and motion features, respectively. The second CAD system presented in this paper supports the diagnosis of focal liver lesions and is able to characterize liver tissue from Computed Tomography (CT) images as normal, hepatic cyst, hemangioma, and hepatocellular carcinoma. Five texture feature sets were extracted for each lesion, while a genetic algorithm based feature selection method was applied to identify the most robust features. The selected feature set was fed into an ensemble of neural network classifiers. The achieved classification performance was 100%, 93.75% and 90.63% in the training, validation and testing set, respectively. It is concluded that computerized analysis of medical images in combination with artificial intelligence can be used in clinical practice and may contribute to more efficient diagnosis.

Quantitative radiomics studies for tissue characterization: a review of technology and methodological procedures.

PubMed

Larue, Ruben T H M; Defraene, Gilles; De Ruysscher, Dirk; Lambin, Philippe; van Elmpt, Wouter

2017-02-01

Quantitative analysis of tumour characteristics based on medical imaging is an emerging field of research. In recent years, quantitative imaging features derived from CT, positron emission tomography and MR scans were shown to be of added value in the prediction of outcome parameters in oncology, in what is called the radiomics field. However, results might be difficult to compare owing to a lack of standardized methodologies to conduct quantitative image analyses. In this review, we aim to present an overview of the current challenges, technical routines and protocols that are involved in quantitative imaging studies. The first issue that should be overcome is the dependency of several features on the scan acquisition and image reconstruction parameters. Adopting consistent methods in the subsequent target segmentation step is evenly crucial. To further establish robust quantitative image analyses, standardization or at least calibration of imaging features based on different feature extraction settings is required, especially for texture- and filter-based features. Several open-source and commercial software packages to perform feature extraction are currently available, all with slightly different functionalities, which makes benchmarking quite challenging. The number of imaging features calculated is typically larger than the number of patients studied, which emphasizes the importance of proper feature selection and prediction model-building routines to prevent overfitting. Even though many of these challenges still need to be addressed before quantitative imaging can be brought into daily clinical practice, radiomics is expected to be a critical component for the integration of image-derived information to personalize treatment in the future.

Is adermatoglyphia an additional feature of Kindler Syndrome?*

PubMed Central

de Almeida Jr, Hiram Larangeira; Goetze, Fernanda Mendes; Fong, Kenneth; Lai-Cheong, Joey; McGrath, John

2015-01-01

A typical feature of Kindler Syndrome is skin fragility; this condition in currently classified as a form of epidermolysis bullosa. We describe a rarely reported feature of two cases, one sporadic and one familial; both patients noticed acquired adermatoglyphia. The loss of dermatoglyphics could be an additional feature of this syndrome. PMID:26375235

An automated tuberculosis screening strategy combining X-ray-based computer-aided detection and clinical information

NASA Astrophysics Data System (ADS)

Melendez, Jaime; Sánchez, Clara I.; Philipsen, Rick H. H. M.; Maduskar, Pragnya; Dawson, Rodney; Theron, Grant; Dheda, Keertan; van Ginneken, Bram

2016-04-01

Lack of human resources and radiological interpretation expertise impair tuberculosis (TB) screening programmes in TB-endemic countries. Computer-aided detection (CAD) constitutes a viable alternative for chest radiograph (CXR) reading. However, no automated techniques that exploit the additional clinical information typically available during screening exist. To address this issue and optimally exploit this information, a machine learning-based combination framework is introduced. We have evaluated this framework on a database containing 392 patient records from suspected TB subjects prospectively recruited in Cape Town, South Africa. Each record comprised a CAD score, automatically computed from a CXR, and 12 clinical features. Comparisons with strategies relying on either CAD scores or clinical information alone were performed. Our results indicate that the combination framework outperforms the individual strategies in terms of the area under the receiving operating characteristic curve (0.84 versus 0.78 and 0.72), specificity at 95% sensitivity (49% versus 24% and 31%) and negative predictive value (98% versus 95% and 96%). Thus, it is believed that combining CAD and clinical information to estimate the risk of active disease is a promising tool for TB screening.

Electronic data collection for clinical trials using tablet and handheld PCs

NASA Astrophysics Data System (ADS)

Alaoui, Adil; Vo, Minh; Patel, Nikunj; McCall, Keith; Lindisch, David; Watson, Vance; Cleary, Kevin

2005-04-01

This paper describes a system that uses electronic forms to collect patient and procedure data for clinical trials. During clinical trials, patients are typically required to provide background information such as demographics and medical history, as well as review and complete any consent forms. Physicians or their assistants then usually have additional forms for recording technical data from the procedure and for gathering follow-up information from patients after completion of the procedure. This approach can lead to substantial amounts of paperwork to collect and manage over the course of a clinical trial with a large patient base. By using e-forms instead, data can be transmitted to a single, centralized database, reducing the problem of managing paper forms. Additionally, the system can provide a means for relaying information from the database to the physician on his/her portable wireless device, such as to alert the physician when a patient has completed the pre-procedure forms and is ready to begin the procedure. This feature could improve the workflow in busy clinical practices. In the future, the system could be expanded so physicians could use their portable wireless device to pull up entire hospital records and view other pre-procedure data and patient images.

Reversible splenial lesion syndrome associated with lobar pneumonia

PubMed Central

Li, Chunrong; Wu, Xiujuan; Qi, Hehe; Cheng, Yanwei; Zhang, Bing; Zhou, Hongwei; Lv, Xiaohong; Liu, Kangding; Zhang, Hong-Liang

2016-01-01

Abstract Background: Reversible splenial lesion syndrome (RESLES) is a rare clinico-radiological disorder with unclear pathophysiology. Clinically, RESLES is defined as reversible isolated splenial lesions in the corpus callosum, which can be readily identified by magnetic resonance imaging (MRI) and usually resolve completely over a period of time. RESLES could be typically triggered by infection, antiepileptic drugs (AEDs), poisoning, etc. More factors are increasingly recognized. Methods and results: We reported herein an 18-year-old female patient with lobar pneumonia who developed mental abnormalities during hospitalization. An isolated splenial lesion in the corpus callosum was found by head MRI and the lesion disappeared 15 days later. Based on her clinical manifestations and radiological findings, she was diagnosed with lobar pneumonia associated RESLES. We further summarize the up-to-date knowledge about the etiology, possible pathogenesis, clinical manifestations, radiological features, treatment, and prognosis of RESLES. Conclusion: This report contributes to the clinical understanding of RESLES which may present with mental abnormalities after infection. The characteristic imaging of reversible isolated splenial lesions in the corpus callosum was confirmed in this report. The clinical manifestations and lesions on MRI could disappear naturally after 1 month without special treatment. PMID:27684805

Time Is Not Always the Matter: An Instance of Encapsulating Peritoneal Sclerosis Developing in a Patient on Peritoneal Dialysis for a Short Term.

PubMed

De Oleo, Radhames Ramos; Villanueva, Hugo; Lwin, Lin; Katikaneni, Madhavi; Yoo, Jinil

Encapsulating peritoneal sclerosis (EPS) is an infrequent but serious complication that is observed mostly in patients on long-term peritoneal dialysis (PD). However it can occur after short-term PD, in association with "second hit" risk factors such as peritonitis, acute cessation of PD, or kidney transplantation with the use of calcineurin inhibitors.In our case, a young woman with second-hit risk factors presented with clinical and abdominal computed tomography findings consistent with EPS after short-term PD. She was treated conservatively with nutritional support and was discharged in improved and stable clinical status.In general, the diagnosis of EPS requires clinical findings of bowel obstruction combined with typical computed tomography imaging features. However, the clinical manifestations can be very vague, and the diagnosis is often unclear. A recent study categorized EPS into 4 clinical stages, from pre-EPS to chronic ileus, with associated management from conservative treatment to surgical intervention.In association with second-hit risk factors, EPS can occur after short-term PD. Severity is variable, and the outcome is often devastating. Timely recognition and expert management of EPS can change the outcome very favorably.

Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.

PubMed

Garcia-Moreno, Hector; Fassihi, Hiva; Sarkany, Robert P E; Phukan, Julie; Warner, Thomas; Lehmann, Alan R; Giunti, Paola

2018-01-01

Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease-like syndromes. The first case (group G) presented with neuropsychiatric features, cognitive decline and chorea. Typical lentigines were only noticed after the neurological disease started. The second case (group B) presented adult-onset chorea and neuropsychiatric symptoms after an aggressive ocular melanoma. Xeroderma pigmentosum can manifest as a Huntington's Disease-like syndrome. Classic dermatological and oncological features have to be investigated in choreic patients with negative genetic tests for Huntington's disease-like phenotypes.

Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

PubMed

van der Crabben, Saskia N; Harakalova, Magdalena; Brilstra, Eva H; van Berkestijn, Frédérique M C; Hofstede, Floris C; van Vught, Adrianus J; Cuppen, Edwin; Kloosterman, Wigard; Ploos van Amstel, Hans Kristian; van Haaften, Gijs; van Haelst, Mieke M

2014-01-01

Phosphatidyl inositol glycan (PIG) enzyme subclasses are involved in distinct steps of glycosyl phosphatidyl inositol anchor protein biosynthesis. Glycolsyl phosphatidyl inositol-anchored proteins have heterogeneous functions; they can function as enzymes, adhesion molecules, complement regulators and co-receptors in signal transduction pathways. Germline mutations in genes encoding different members of the PIG family result in diverse conditions with (severe) developmental delay, (neonatal) seizures, hypotonia, CNS abnormalities, growth abnormalities, and congenital abnormalities as hallmark features. The variability of clinical features resembles the typical diversity of other glycosylation pathway deficiencies such as the congenital disorders of glycosylation. Here, we report the first germline missense mutation in the PIGA gene associated with accelerated linear growth, obesity, central hypotonia, severe refractory epilepsy, cardiac anomalies, mild facial dysmorphic features, mildly elevated alkaline phosphatase levels, and CNS anomalies consisting of progressive cerebral atrophy, insufficient myelinization, and cortical MRI signal abnormalities. X-exome sequencing in the proband identified a c.278C>T (p.Pro93Leu) mutation in the PIGA gene. The mother and maternal grandmother were unaffected carriers and the mother showed 100% skewing of the X-chromosome harboring the mutation. These results together with the clinical similarity of the patient reported here and the previously reported patients with a germline nonsense mutation in PIGA support the determination that this mutation caused the phenotype in this family. © 2013 Wiley Periodicals, Inc.

Epstein–Barr Virus-Positive T/NK-Cell Lymphoproliferative Disorders Manifested as Gastrointestinal Perforations and Skin Lesions

PubMed Central

Xiao, Hai-Juan; Li, Ji; Song, Hong-Mei; Li, Zheng-Hong; Dong, Mei; Zhou, Xiao-Ge

2016-01-01

Abstract Systemic Epstein–Barr virus (EBV)-positive T-cell lymphoproliferative disorders (LPDs) of childhood is a highly aggressive EBV-positive T/natural killer (NK)-cell LPD, which emerges in the background of chronic active EBV infection (CAEBV) or shortly after primary acute EBV infection. The clinical presentations of CAEBV are varied; patients with atypical manifestations are easily misdiagnosed. We described a 14-year-old boy suffering from digestive disorders and intermittent fever for 1 year and 9 months, whose conditions worsened and skin lesions occurred 2 months before hospitalization. He was diagnosed as inflammatory bowel diseases (IBD) and treated accordingly. His other clinical features, hepatosplenomegaly, lymphadenopathy, anemia, hypoalbuminemia, and elevated inflammatory marks, were found in hospitalization. The boy suffered from repeatedly spontaneous intestinal perforations shortly after hospitalization and died of intestinal hemorrhea. The pathological results of intestine and skin both showed EBV-positive T/NK-cell LPD (lymphoma stage). There are rare studies reporting gastrointestinal perforations in EBV-positive T/NK-cell LPD, let alone repeatedly spontaneous perforations. Based on the clinical features and pathological results of this patient, the disease progressed from CAEBV (T-cell type) to systemic EBV-positive T-cell LPD of childhood (lymphoma). Not all the patients with CAEBV could have unusual patterns of anti-EBV antibodies. However, the presence of high EBV loads (EBV-encoded early small ribonucleic acid (RNA) (EBER) in affected tissues and/or EBV deoxyribonucleic acid (DNA) in peripheral blood) is essential for diagnosing CAEBV. Maybe because of his less common clinical features for CAEBV and negative anti-EBV antibodies, the boy was not diagnosed correctly. We should have emphasized the test for EBER or EBV-DNA. Meanwhile, for the IBD patients whose manifestations were not typical, and whose conditions were not improved by suitable therapies against IBD, infectious and malignant diseases should be considered. PMID:26844502

Epstein-Barr Virus-Positive T/NK-Cell Lymphoproliferative Disorders Manifested as Gastrointestinal Perforations and Skin Lesions: A Case Report.

PubMed

Xiao, Hai-Juan; Li, Ji; Song, Hong-Mei; Li, Zheng-Hong; Dong, Mei; Zhou, Xiao-Ge

2016-02-01

Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disorders (LPDs) of childhood is a highly aggressive EBV-positive T/natural killer (NK)-cell LPD, which emerges in the background of chronic active EBV infection (CAEBV) or shortly after primary acute EBV infection. The clinical presentations of CAEBV are varied; patients with atypical manifestations are easily misdiagnosed. We described a 14-year-old boy suffering from digestive disorders and intermittent fever for 1 year and 9 months, whose conditions worsened and skin lesions occurred 2 months before hospitalization. He was diagnosed as inflammatory bowel diseases (IBD) and treated accordingly. His other clinical features, hepatosplenomegaly, lymphadenopathy, anemia, hypoalbuminemia, and elevated inflammatory marks, were found in hospitalization. The boy suffered from repeatedly spontaneous intestinal perforations shortly after hospitalization and died of intestinal hemorrhea. The pathological results of intestine and skin both showed EBV-positive T/NK-cell LPD (lymphoma stage).There are rare studies reporting gastrointestinal perforations in EBV-positive T/NK-cell LPD, let alone repeatedly spontaneous perforations. Based on the clinical features and pathological results of this patient, the disease progressed from CAEBV (T-cell type) to systemic EBV-positive T-cell LPD of childhood (lymphoma). Not all the patients with CAEBV could have unusual patterns of anti-EBV antibodies. However, the presence of high EBV loads (EBV-encoded early small ribonucleic acid (RNA) (EBER) in affected tissues and/or EBV deoxyribonucleic acid (DNA) in peripheral blood) is essential for diagnosing CAEBV. Maybe because of his less common clinical features for CAEBV and negative anti-EBV antibodies, the boy was not diagnosed correctly. We should have emphasized the test for EBER or EBV-DNA. Meanwhile, for the IBD patients whose manifestations were not typical, and whose conditions were not improved by suitable therapies against IBD, infectious and malignant diseases should be considered.

A case of chronic inflammatory demyelinating polyneuropathy presented with unilateral ptosis.

PubMed

Izadi, Sadegh; Karamimagham, Sina; Poursadeghfard, Maryam

2014-01-01

Chronic Inflammatory Demyelinating Polyneuropathy is an autoimmune disease with progressive and relapsing courses. The main clinical presentations are diffuse deep tendon hyporeflexia or areflexia and symmetric proximal-distal muscles weakness. Myasthenia gravis is also an immune mediated disease with fluctuating ocular and bulbar symptoms and sometimes weakness. Although both myasthenia gravis and chronic inflammatory demyelinating polyneuropathy are immune mediated disorders, clinical presentations are obviously different in the two diseases. Herein, we will report a case of chronic inflammatory demyelinating polyneuropathy who presented with isolated unilateral ptosis. Initially, the patient was managed as ocular type of myasthenia gravis, but after progression to general limb weakness and areflexia, the diagnosis of chronic inflammatory demyelinating polyneuropathy was made. Although unilateral ptosis is a typical feature of myasthenia gravis, it may be seen as the first presentation of chronic inflammatory demyelinating polyneuropathy as well which mimics myasthenia gravis disease.

[MELAS syndrome as a differential diagnosis of ischemic stroke].

PubMed

Finsterer, J

2009-01-01

Mitochondrial encephalomyopathy, lactacidosis and stroke-like episode (MELAS) syndrome is a phenotypically and genetically heterogeneous mitochondrial disorder with a clinical onset between the first and third decade. The clinical hallmark is the stroke-like-episode, which mimicks ischemic stroke but is usually transient and non-disabling in nature. The morphological equivalent on MRI is a T2-hyperintensity, predominantly over the temporo-parieto-occipital region, not confined to a vascular territory, which is also hyperintense on diffusion weighted imaging and on apparent diffusion coefficient sequences (vasogenic edema, stroke-like lesion). Additional features include seizures, cognitive decline, psychosis, lactic acidosis, migraine, visual impairment, hearing loss, short stature, diabetes, or myopathy. Muscle biopsy typically shows ragged-red fibers, COX-negative fibers, SDH hyperreactivity, and abnormally shaped mitochondria with paracristalline inclusions. The diagnosis is confirmed by demonstration of a biochemical respiratory chain defect or one of the disease-causing mutations, of which 80 % affect the mitochondrial tRNALeu gene.

Insights in Anaphylaxis and Clonal Mast Cell Disorders.

PubMed

González-de-Olano, David; Álvarez-Twose, Iván

2017-01-01

The prevalence of anaphylaxis among patients with clonal mast cell disorders (MCD) is clearly higher comparing to the general population. Due to a lower frequency of symptoms outside of acute episodes, clonal MCD in the absence of skin lesions might sometimes be difficult to identify which may lead to underdiagnosis, and anaphylaxis is commonly the presenting symptom in these patients. Although the release of mast cell (MC) mediators upon MC activation might present with a wide variety of symptoms, particular clinical features typically characterize MC mediator release episodes in patients with clonal MCD without skin involvement. Final diagnosis requires a bone marrow study, and it is recommended that this should be done in reference centers. In this article, we address the main triggers for anaphylaxis, risk factors, clinical presentation, diagnosis, and management of patients with MC activation syndromes (MCASs), with special emphasis on clonal MCAS [systemic mastocytosis and mono(clonal) MC activations syndromes].

Insights in Anaphylaxis and Clonal Mast Cell Disorders

PubMed Central

González-de-Olano, David; Álvarez-Twose, Iván

2017-01-01

The prevalence of anaphylaxis among patients with clonal mast cell disorders (MCD) is clearly higher comparing to the general population. Due to a lower frequency of symptoms outside of acute episodes, clonal MCD in the absence of skin lesions might sometimes be difficult to identify which may lead to underdiagnosis, and anaphylaxis is commonly the presenting symptom in these patients. Although the release of mast cell (MC) mediators upon MC activation might present with a wide variety of symptoms, particular clinical features typically characterize MC mediator release episodes in patients with clonal MCD without skin involvement. Final diagnosis requires a bone marrow study, and it is recommended that this should be done in reference centers. In this article, we address the main triggers for anaphylaxis, risk factors, clinical presentation, diagnosis, and management of patients with MC activation syndromes (MCASs), with special emphasis on clonal MCAS [systemic mastocytosis and mono(clonal) MC activations syndromes]. PMID:28740494

DNA microarrays: a powerful genomic tool for biomedical and clinical research

PubMed Central

Trevino, Victor; Falciani, Francesco; Barrera-Saldaña, Hugo A.

2007-01-01

Among the many benefits of the Human Genome Project are new and powerful tools such as the genome-wide hybridization devices referred as microarrays. Initially designed to measure gene transcriptional levels, microarray technologies are now used for comparing other genome features among individuals and their tissues and cells. Results provide valuable information on disease subcategories, disease prognosis, and treatment outcome. Likewise, reveal differences in genetic makeup, regulatory mechanisms and subtle variations are approaching the era of personalized medicine. To understand this powerful tool, its versatility and how it is dramatically changing the molecular approach to biomedical and clinical research, this review describes the technology, its applications, a didactic step-by-step review of a typical microarray protocol, and a real experiment. Finally, it calls the attention of the medical community to integrate multidisciplinary teams, to take advantage of this technology and its expanding applications that in a slide reveals our genetic inheritance and destiny. PMID:17660860

Clinical features of Mexican patients with Mucopolysaccharidosis type I.

PubMed

Alonzo-Rojo, A; García-Ortiz, J E; Ortiz-Aranda, M; Gallegos-Arreola, M P; Figuera-Villanueva, L E

2017-09-21

Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive lysosomal storage disorder caused by a deficiency or absence of α--iduronidase, which is involved in the catabolism of glycosaminoglycans (GAGs). This deficiency leads to the accumulation of GAGs in several organs. Given the wide spectrum of the disease, MPS-I has historically been classified into 3 clinical subtypes - severe (Hurler syndrome), intermediate (Hurler-Scheie syndrome), and mild (Scheie syndrome) - none of which is determined by residual enzyme activity. Eleven Mexican patients with MPS-I from northwestern México were evaluated. Diagnoses were confirmed through quantification of GAGs in urine and enzyme assay for α--iduronidase. Regardless of phenotype, all patients had various degrees of infiltrated facies, short stature, dysostosis multiplex, joint contractures, and corneal opacity typical of the disease. A better understanding of the spectrum of this disease can assist in diagnosis, treatment, and improvement in the quality of life for these patients.

Double heterozygosity for Hb New York [beta 113 GTG-->GAG; VAL-->GLU] and beta degrees-thalassemia mutations manifests as a thalassemia trait.

PubMed

Lee, Anselm C W; Ma, Edmond S K; Chan, Amy Y Y; Szeto, S C; Chan, L C

2008-01-01

An extended family with three individuals affected by two different forms of double heterozygosity for beta-thalassemia and Hb New York is reported. Double heterozygosity of Hb New York [beta 113 GTG-->GAG; VAL-->GLU] and beta degrees codon 17 was detected in a fetus following prenatal screening for thalassemia. The father and a paternal aunt were also found to be heterozygous for Hb New York and beta degrees IVSII-654. Both adults had clinical and hematological features consistent with beta-thalassemia trait. The affected child was followed up after birth and manifested the typical course of a thalassemia trait, with no signs of organomegaly or overt hemolysis. Observations strongly suggest that double heterozygosity of Hb New York and beta degrees thalassemia has mild, if any, clinical symptoms, and is not an indication of therapeutic abortion when detected antenatally.

Cockroach allergy and asthma in a 30-year-old man.

PubMed Central

O'Connor, G T; Gold, D R

1999-01-01

A growing body of evidence has implicated allergens derived from cockroaches as an important environmental factor that may aggravate asthma in sensitized persons. We present the case of a 30-year-old man with asthma and a cockroach allergy. Allergy skin testing confirmed hypersensitivity to cockroach extract, and a home visit revealed visual evidence of infestation and the presence of Bla g 1 German cockroach allergen in vacuumed dust. As is typical of patients with a cockroach allergy and asthma, multiple factors in addition to cockroach allergen appeared to aggravate the patient's asthma. A multimodality therapeutic regimen, which included medications as well as cleaning of the home, integrated pest management, and professional application of chemical controls, resulted in substantial clinical improvement. The pathophysiology, epidemiology, and clinical features of cockroach-allergic asthma are reviewed, and an approach to diagnosis and management is suggested. Images Figure 1 Figure 2 PMID:10064555

[Benign cutaneous lymphadenosis (Bäfverstedt's disease) of the nipple (author's transl)].

PubMed

Kindermann, G; Sebicke, E

1977-12-01

Benign circumscribed cutaneous lymphadenosis of the areola of the nipple (Bäfverstedt's disease) occurs in children and adults. We observed 11 cases: 3 men, 3 children and 6 women. The areola undergoes rapid swelling and becomes red. At times the nipple itself is included. Unilateral enlargment and distortion of the nipple area becomes apparent. Sometimes this is associated with a tumor-like infiltration of the retro-mammillary tissue. In Contradistinction to Pagets disease of the nipple and to a mammillary adenoma there is no eczema and no ulceration. The clinical features and the typical pruritic course establish the diagnosis. Healing is spontaneous, but protracted. The aetiology is probably of an inflammatory nature. Treatment with short courses of antibiotics and anti-inflammatory agents resulted in a faster reduction of the cutaneous signs and corroborated the clinical diagnosis. We consider surgical treatment as unnecessary because circumscript benign lymphadenosis of the nipple area has a harmless course.

A Role for Epigenetic Mechanisms in Organ-Specific Breast Cancer Metastasis

DTIC Science & Technology

2010-05-01

of origin. The neovasculature of tumors is typically leaky (Carmeliet and Jain, 2000; Rafii et al., 2003), a feature that would facilitate not only...and therapy selection in esophageal cancer. Cancer Cell 13, 441- 453. Rafii , S., Avecilla, S.T., and Jin, D.K. (2003). Tumor vasculature address book...origin. The neovasculature of tumors is typically leaky (Carmeliet and Jain, 2000; Rafii et al., 2003), a feature that would facilitate not only the

CT of hepatic schistosomiasis mansoni

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

Fataar, S.; Bassiony, H.; Satyanath, S.

1985-07-01

Schistosomal periportal fibrosis produced a typical pattern on computed tomography in five patients. Low-density periportal tissue, present throughout the liver, enhanced strongly after the administration of contrast medium. While rounded in cross section, the thickened periportal tissue produced linear and branching patterns when imaged in longitudinal section. In all cases, the sonographic features were typical of schistosomal periportal fibrosis. A lack of awareness of the distinctive features of periportal fibrosis may result in a mistaken diagnosis of hepatic metastases.

Usability study of clinical exome analysis software: top lessons learned and recommendations.

PubMed

Shyr, Casper; Kushniruk, Andre; Wasserman, Wyeth W

2014-10-01

New DNA sequencing technologies have revolutionized the search for genetic disruptions. Targeted sequencing of all protein coding regions of the genome, called exome analysis, is actively used in research-oriented genetics clinics, with the transition to exomes as a standard procedure underway. This transition is challenging; identification of potentially causal mutation(s) amongst ∼10(6) variants requires specialized computation in combination with expert assessment. This study analyzes the usability of user interfaces for clinical exome analysis software. There are two study objectives: (1) To ascertain the key features of successful user interfaces for clinical exome analysis software based on the perspective of expert clinical geneticists, (2) To assess user-system interactions in order to reveal strengths and weaknesses of existing software, inform future design, and accelerate the clinical uptake of exome analysis. Surveys, interviews, and cognitive task analysis were performed for the assessment of two next-generation exome sequence analysis software packages. The subjects included ten clinical geneticists who interacted with the software packages using the "think aloud" method. Subjects' interactions with the software were recorded in their clinical office within an urban research and teaching hospital. All major user interface events (from the user interactions with the packages) were time-stamped and annotated with coding categories to identify usability issues in order to characterize desired features and deficiencies in the user experience. We detected 193 usability issues, the majority of which concern interface layout and navigation, and the resolution of reports. Our study highlights gaps in specific software features typical within exome analysis. The clinicians perform best when the flow of the system is structured into well-defined yet customizable layers for incorporation within the clinical workflow. The results highlight opportunities to dramatically accelerate clinician analysis and interpretation of patient genomic data. We present the first application of usability methods to evaluate software interfaces in the context of exome analysis. Our results highlight how the study of user responses can lead to identification of usability issues and challenges and reveal software reengineering opportunities for improving clinical next-generation sequencing analysis. While the evaluation focused on two distinctive software tools, the results are general and should inform active and future software development for genome analysis software. As large-scale genome analysis becomes increasingly common in healthcare, it is critical that efficient and effective software interfaces are provided to accelerate clinical adoption of the technology. Implications for improved design of such applications are discussed. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

Clinical and serologic parallels to APS-I in patients with thymomas, and autoantigen transcripts in their tumors1

PubMed Central

Wolff, Anette S. B.; Kärner, Jaanika; Owe, Jone F.; Oftedal, Bergithe E.V.; Gilhus, Nils Erik; Erichsen, Martina M.; Kämpe, Olle; Meager, Anthony; Peterson, Pärt; Kisand, Kai; Willcox, Nick; Husebye, Eystein S.

2014-01-01

Patients with the autoimmune polyendocrine syndrome type I (APS-I), caused by mutations in the autoimmune regulator (AIRE) gene, and myasthenia gravis (MG) with thymoma, show intriguing but unexplained parallels. They include uncommon manifestations like autoimmune adrenal insufficiency (AI), hypoparathyroidism (HP), and chronic mucocutaneous candidiasis (CMC) plus autoantibodies neutralizing IL-17, IL-22 and type I interferons. Thymopoiesis in the absence of AIRE is implicated in both syndromes. To test whether these parallels extend further, we screened 247 patients with MG and/or thymoma for clinical features and organ-specific autoantibodies characteristic of APS-I patients, and assayed 26 thymoma samples for transcripts for AIRE and 16 peripheral tissue-specific autoantigens (TSAgs) by quantitative PCR. We found APS-I-typical autoantibodies and clinical manifestations, including CMC, AI and asplenia, respectively in 49/121 (40%) and 10/121 (8%) thymoma patients, but clinical features seldom co-occurred with the corresponding autoantibodies. Both were rare in other MG subgroups (N=126). In 38 APS-I patients, by contrast, we observed neither autoantibodies against muscle antigens nor any neuromuscular disorders. Whereas relative transcript levels for AIRE and 7 of 16 TSAgs showed the expected under-expression in thymomas, levels were increased for 4 of the 5 TSAgs most frequently targeted by these patients’ autoAbs. Hence the clinical and serologic parallels to APS-I in patients with thymomas are not explained purely by deficient TSAg transcription in these aberrant AIRE-deficient tumors. We therefore propose additional explanations for the unusual autoimmune biases they provoke. Thymoma patients should be monitored for potentially life-threatening APS-I manifestations such as AI and HP. PMID:25230752

CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles

PubMed Central

Pretto, Dalyir I.; Mendoza-Morales, Guadalupe; Lo, Joyce; Cao, Ru; Hadd, Andrew; Latham, Gary J.; Durbin-Johnson, Blythe; Hagerman, Randi; Tassone, Flora

2014-01-01

Background Greater than 200 CGG repeats in the 5′UTR of the FMR1 gene leads to epigenetic silencing and lack of the FMR1 protein, causing Fragile X Syndrome. Individuals carriers of a premutation (PM) allele with 55–200 CGG repeats are typically unmethylated and can present with clinical features defined as FMR1 associated conditions. Methods Blood samples from 17 male PM carriers were assessed clinically and molecularly by Southern Blot, Western Blot, PCR and QRT-PCR. Blood and brain tissue from additional 18 PM males were also similarly examined. Continuous outcomes were modeled using linear regression and binary outcomes were modeled using logistic regression. Results Methylated alleles were detected in different fractions of blood cells in all PM cases (n= 17). CGG repeat numbers correlated with percent of methylation and mRNA levels and, especially in the upper PM range, with greater number of clinical involvements. Inter/intra- tissue somatic instability and differences in percent methylation were observed between blood and fibroblasts (n=4) and also observed between blood and different brain regions in three of the 18 premutation cases examined. CGG repeat lengths in lymphocytes remained unchanged over a period of time ranging from 2–6 years, three cases for whom multiple samples were available. Conclusion In addition to CGG size instability, individuals with a PM expanded alleles can exhibit methylation and display more clinical features likely due to RNA toxicity and/or FMR1 silencing. The observed association between CGG repeat length and percent of methylation with the severity of the clinical phenotypes underscores the potential value of methylation in affected PM to further understand penetrance, inform diagnosis and to expand treatment options. PMID:24591415

Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed with genetic sequencing

PubMed Central

Liu, Laura; Chen, Ho-Min; Tsai, Shawn; Chang, Tsong-Chi; Tsai, Tzu-Hsun; Yang, Chung-May; Chao, An-Ning; Chen, Kuan-Jen; Kao, Ling-Yuh; Yeung, Ling; Yeh, Lung-Kun; Hwang, Yih-Shiou; Wu, Wei-Chi; Lai, Chi-Chun

2015-01-01

Purpose To investigate the clinical characteristics of X-linked retinoschisis (XLRS) and identify genetic mutations in Taiwanese patients with XLRS. Methods This study included 23 affected males from 16 families with XLRS. Fundus photography, spectral domain optical coherent tomography (SD-OCT), fundus autofluorescence (FAF), and full-field electroretinograms (ERGs) were performed. The coding regions of the RS1 gene that encodes retinoschisin were sequenced. Results The median age at diagnosis was 18 years (range 4–58 years). The best-corrected visual acuity ranged from no light perception to 20/25. The typical spoke-wheel pattern in the macula was present in 61% of the patients (14/23) while peripheral retinoschisis was present in 43% of the patients (10/23). Four eyes presented with vitreous hemorrhage, and two eyes presented with leukocoria that mimics Coats’ disease. Macular schisis was identified with SD-OCT in 82% of the eyes (31/38) while foveal atrophy was present in 18% of the eyes (7/38). Concentric area of high intensity was the most common FAF abnormality observed. Seven out of 12 patients (58%) showed electronegative ERG findings. Sequencing of the RS1 gene identified nine mutations, six of which were novel. The mutations are all located in exons 4–6, including six missense mutations, two nonsense mutations, and one deletion-caused frameshift mutation. Conclusions XLRS is a clinically heterogeneous disease with profound phenotypic inter- and intrafamiliar variability. Genetic sequencing is valuable as it allows a definite diagnosis of XLRS to be made without the classical clinical features and ERG findings. This study showed the variety of clinical features of XLRS and reported novel mutations. PMID:25999676

The Role of Patient-Provider Communication in Engagement and Re-engagement in HIV Treatment in Bamako, Mali: A Qualitative Study.

PubMed

Hurley, Emily A; Harvey, Steven A; Winch, Peter J; Keita, Mariam; Roter, Debra L; Doumbia, Seydou; Diarra, Nièlè H; Kennedy, Caitlin E

2018-01-01

Mounting evidence in sub-Saharan Africa suggests poor patient-provider communication (PPC) negatively impacts patient engagement (retention in care and adherence to medication) in antiretroviral therapy (ART) programs. In Bamako, Mali, where 36% of ART patients are lost to follow-up within 12 months of initiating treatment, we aimed to define features of positive PPC according to patient values and explore the mechanisms by which these features may sustain engagement and re-engagement according to patient and provider experiences. We conducted 33 in-depth interviews and 7 focus groups with 69 patients and 17 providers in five ART clinics. Regarding sustaining engagement, participants highlighted "establishing rapport" as a foundational feature of effective PPC, but also described how "responding to emotional needs", "eliciting patient conflicts and perspective" and "partnering to mitigate conflicts" functioned to address barriers to engagement and increase connectedness to care. Patients who had disengaged felt that "communicating reacceptance" may have prompted them re-engage sooner and that tailored "partnering to mitigate conflicts" would be more effective in sustaining re-engagement than the standard adherence education providers typically offer. Optimizing provider skills related to these key PPC features may help maximize ART patient engagement, ultimately improving health outcomes and decreasing HIV transmission in sub-Saharan Africa.

43 CFR 8223.0-5 - Definitions.

Code of Federal Regulations, 2014 CFR

2014-10-01

... threatened or endangered plant or animal species; (4) A typical representation of common geologic, soil, or water features; or (5) Outstanding or unusual geologic, soil, or water features. (b) [Reserved] ...

43 CFR 8223.0-5 - Definitions.

Code of Federal Regulations, 2011 CFR

2011-10-01

... threatened or endangered plant or animal species; (4) A typical representation of common geologic, soil, or water features; or (5) Outstanding or unusual geologic, soil, or water features. (b) [Reserved] ...

43 CFR 8223.0-5 - Definitions.

Code of Federal Regulations, 2012 CFR

2012-10-01

... threatened or endangered plant or animal species; (4) A typical representation of common geologic, soil, or water features; or (5) Outstanding or unusual geologic, soil, or water features. (b) [Reserved] ...

43 CFR 8223.0-5 - Definitions.

Code of Federal Regulations, 2013 CFR

2013-10-01

... threatened or endangered plant or animal species; (4) A typical representation of common geologic, soil, or water features; or (5) Outstanding or unusual geologic, soil, or water features. (b) [Reserved] ...

Annular Lichenoid Dermatitis (of Youth) Immunohistochemical and Serological Evidence for Another Clinical Presentation of Borrelia Infection in Patients of Western Austria.

PubMed

Wilk, Michael; Zelger, Bettina G; Emberger, Michael; Zelger, Bernhard

2017-03-01

Annular lichenoid dermatitis of youth (ALDY) is a more recently described inflammatory disease of the skin of unknown etiology with clinical similarities to morphea. The authors clinically, histopathologically, and immunohistochemically investigated 14 biopsies from 12 patients in western Austria with this disease. There were 6 female and 6 male patients with solitary (n = 7) and multiple lesions (n = 5) affecting the trunk (n = 11), upper arm (n = 2), thigh (n = 1), and calf (n = 1). Clinically, early lesions were erythematous in nature leading to central paleness, scaling, wrinkling, dermal atrophy, slight pigmentation, and telangiectasia later on. Histopathologically, all specimens showed the typical features of ALDY with a superficial lichenoid process with sprinkling of lymphocytes along the basal cell layer and within the epidermis accompanied by mild fibrosis. Pigment incontinence, superficial fibrosis, and dilatation of superficial capillary vessels are prominent features in more advanced stages of disease. Immunohistologically, using a polyclonal antibody against Borrelia, 11/14 specimens revealed spirochetes, either vital (n = 4) or degenerated (n = 7), in close proximity to collagen bundles. Thirteen of 14 specimens in addition showed focal (n = 4) or clustered (n = 9) positivity for CD20 in the papillary dermis. Nine of 12 sera tested for Borrelia with an enzyme-linked immunosorbent assay were positive. Lichen sclerosus et atrophicus and morphea have previously been reported to be possibly related to Borrelia infection. We postulate that a similar relationship to Borrelia infection may be true for ALDY implying that ALDY may be an early superficial stage of morphea.

Unusual clinical manifestation of pheochromocytoma in a MEN2A patient.

PubMed

Guerrieri, M; Filipponi, S; Arnaldi, G; Giovagnetti, M; Lezoche, E; Mantero, F; Taccaliti, A

2002-01-01

A case of unusual clinical manifestation of pheochromocytoma in a type 2A multiple endocrine neoplasia (MEN2A) patient is presented. A 27-year-old man affected by MEN2A syndrome, complaining of anxiety and depression, was admitted in our Division. Past medical history included a total thyroidectomy for medullary carcinoma in 1985, and left adrenalectomy for pheochromocytoma in 1994. Blood pressure was 130/ 85 mmHg without orthostatic hypotension and pulse rate was 72 beats/min. Laboratory data revealed thyroid hormones and carcinoembryonic antigen (CEA) in the normal range and high basal serum calcitonin levels (158 pg/ml). Plasma catecholamines and vanillylmandelic acid resulted in normal levels but epinephrine/norepinephrine ratio was elevated (0.65). The glucagon stimulation test showed positive clinical and biochemical response. Magnetic resonance imaging (MRI) and meta-iodobenzylguanidine (MIBG) scintiscan confirmed the presence of bilateral adrenal masses. Bilateral adrenalectomy by laparoscopic anterior approach was performed. Histology was consistent with adrenal pheochromocytomas. After surgical approach, psychiatric findings disappeared and did not recur at follow-up in spite of no medication for two years. In conclusion, bilateral pheochromocytoma is more frequent in MEN2A syndrome and probably understimated if the follow-up is not prolonged. In these cases clinical features are often aspecific and basal hormonal data may be normal in a great number of patients. Therefore long-term observation is justified in these patients. Pheochromocytoma was described as the "great mimic" for the numerous subjective manifestations. Differential diagnosis among typical features of neuropsychiatric disorders and pheochromocytoma must be considered.

F-18 FDG PET/CT in 26 patients with SAPHO syndrome: a new vision of clinical and bone scintigraphy correlation.

PubMed

Sun, Xiaochuan; Li, Chen; Cao, Yihan; Shi, Ximin; Li, Li; Zhang, Weihong; Wu, Xia; Wu, Nan; Jing, Hongli; Zhang, Wen

2018-05-22

Whole-body bone scintigraphy (WBBS) and MRI are widely used in assessment of patients with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. However, the value of F-18 fluorodeoxyglucose-positron emission tomography/computed tomography ( 18 F-FDG PET/CT) in SAPHO syndrome was unclear. The aim of this study was to characterize the manifestation of SAPHO syndrome on 18 F-FDG PET/CT and explore its relationship with clinical symptoms and WBBS. Twenty-six patients who suffered from SAPHO syndrome and had undergone whole-body 18 F-FDG PET/CT were recruited in Peking Union Medical College Hospital from 2004 to 2016. Clinical manifestations and laboratory findings were recorded for all patients. Imaging data on 18F-FDG PET/CT and WBBS were collected and analyzed retrospectively. All the 26 patients (20 females and 6 males) exhibited skeletal abnormalities on 18 F-FDG PET/CT. Multiple skeletal lesions affecting the anterior chest wall or spine with low to moderate 18 F-FDG uptake and coexistence of osteolysis and osteosclerosis presented as the typical features of SAPHO syndrome. Sixteen (61.5%) patients had abnormal 18 F-FDG uptake outside the osteoarticular system. PET scan had moderate to substantial agreement with CT and WBBS in revealing lesions in the anterior chest wall and axial skeleton. Nonetheless, the correlation between increased 18 F-FDG uptake and clinical symptoms was weak. SAPHO syndrome exhibits characteristic features on 18 F-FDG PET/CT. It showed comparable capacity in revealing skeletal lesions with bone scintigraphy.

Measuring how typical and atypical minds read other's intentions. Comment on "Seeing mental states: An experimental strategy for measuring the observability of other minds" by Cristina Becchio et al.

NASA Astrophysics Data System (ADS)

Parma, Valentina; Sartori, Luisa; Castiello, Umberto

2018-03-01

Becchio et al. [1] propose a model to render other's minds observable against the Unobservability Principle. Such model develops over four, distinct steps. First, it provides experimental evidence indicating that mental states (i.e., intentions) can be encoded in behavioral patterns (e.g., movement kinematics). Second, it provides strategies to test the efficiency of the quantification of such intention-related behavioral manifestations (i.e., resolution of the uncertainty between two intentions based on different patterns of accumulation of kinematic parameters). Third, it indicates specific features of the observed behavior that viewers use to detect different intentions (i.e., a series of decision rules based on kinematic features through which intention categorization occurs). Fourth, it proposes a manner to manipulate such specific behavioral features so that an observer can detect different intentions, based on how informative such behavioral features are. We see in this operational/experimental approach a significant contribution to the theoretical debate on the possibility to observe mental states, allowing the direct testing of the unobservability principle and therefore providing falsifiable hypotheses. Besides this already central aspect, we believe this approach holds promise to the elucidation of clinical open questions, such as those posed by autism spectrum disorders (ASD). Indeed, experimentally evaluating the ability to observe and manipulate other's intentions allow us to quantify with high accuracy the deficits in the representation of other people's minds that so chiefly characterize ASD as well as the outcomes of treatment options focusing on this aspect. Here we suggest a few clarifications and extensions of the proposed model which will make it possibly tailored for clinical applications.

Actinic Prurigo Cheilitis: A Clinicopathologic Review of 75 Cases.

PubMed

Plaza, Jose A; Toussaint, Sonia; Prieto, Victor G; Mercadillo, Patricia; Diez de Medina, Juan C; Lourenco, Silvia; Batdorf, Bjorn; Sangueza, Martin

2016-06-01

Actinic prurigo (AP) is a chronic idiopathic photodermatosis that primarily affects American Indians in the United States and Mestizos in Latin American countries. Clinically, the onset of the disease is usually in the first decade of life but may appear initially in adult life, and it is characterized by symmetric involvement of sun-exposed areas of the skin, particularly areas of the face, resulting in polymorphic erythematous papules, macules, and plaques in different stages of evolution. Lower lip involvement includes swelling, scaling, fissures, hyperpigmentation, and ulcerations of the vermilion border. and in some cases could represent the only manifestation of the disease. The histopathologic features of AP have been studied; however, there is a controversy regarding whether AP cheilitis has distinct histopathologic features that could allow accurate separation from other specific and nonspecific forms of cheilitis. The diagnosis can be challenging, mainly when lip lesions are the only manifestation of the disease. In this study, the authors investigate the clinicopathologic features of 75 cases of AP cheilitis to provide further criteria for its diagnosis and classification. All 75 patients presented with lip lesions. Thirty-three cases were diagnosed as AP cheilitis with cutaneous lesions and 42 cases were diagnosed as AP cheilitis without cutaneous lesions (only lip lesions). Histologically, of the 33 cases with AP cheilitis with cutaneous lesions, 17 (52%) cases showed follicular cheilitis, and of the 42 cases that had only lip lesions, 18 (43%) cases showed follicular cheilitis. Histologically, AP cheilitis can present as follicular cheilitis; thus, supporting the diagnosis. Also, our findings confirm that lip lesions can present as the only manifestation of the disease, showing typical histological and clinical features. This form of cheilitis has not being well described in the dermatologic and dermatopathologic literature.

Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome

PubMed Central

2011-01-01

Background Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, and is the most common single-gene disorder known to be associated with autism. Despite recent advances in functional neuroimaging and our understanding of the molecular pathogenesis, only limited neuropathologic information on FXS is available. Methods Neuropathologic examinations were performed on post-mortem brain tissue from three older men (aged 57, 64 and 78 years) who had received a clinical or genetic diagnosis of FXS. In each case, physical and cognitive features were typical of FXS, and one man was also diagnosed with autism. Guided by reports of clinical and neuroimaging abnormalities of the limbic system and cerebellum of individuals with FXS, the current analysis focused on neuropathologic features present in the hippocampus and the cerebellar vermis. Results Histologic and immunologic staining revealed abnormalities in both the hippocampus and cerebellar vermis. Focal thickening of hippocampal CA1 and irregularities in the appearance of the dentate gyrus were identified. All lobules of the cerebellar vermis and the lateral cortex of the posterior lobe of the cerebellum had decreased numbers of Purkinje cells, which were occasionally misplaced, and often lacked proper orientation. There were mild, albeit excessive, undulations of the internal granular cell layer, with patchy foliar white matter axonal and astrocytic abnormalities. Quantitative analysis documented panfoliar atrophy of both the anterior and posterior lobes of the vermis, with preferential atrophy of the posterior lobule (VI to VII) compared with age-matched normal controls. Conclusions Significant morphologic changes in the hippocampus and cerebellum in three adult men with FXS were identified. This pattern of pathologic features supports the idea that primary defects in neuronal migration, neurogenesis and aging may underlie the neuropathology reported in FXS. PMID:21303513

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.

Post-Ischemic Bowel Stricture: CT Features in Eight Cases

PubMed Central

Kim, Jin Sil; Hong, Seung-Mo; Park, Seong Ho; Lee, Jong Seok; Kim, Ah Young; Ha, Hyun Kwon

2017-01-01

Objective To investigate the characteristic radiologic features of post-ischemic stricture, which can then be implemented to differentiate that specific disease from other similar bowel diseases, with an emphasis on computed tomography (CT) features. Materials and Methods Eight patients with a diagnosis of ischemic bowel disease, who were also diagnosed with post-ischemic stricture on the basis of clinical or pathologic findings, were included. Detailed clinical data was collected from the available electronic medical records. Two radiologists retrospectively reviewed all CT images. Pathologic findings were also analyzed. Results The mean interval between the diagnosis of ischemic bowel disease and stricture formation was 57 days. The severity of ischemic bowel disease was variable. Most post-ischemic strictures developed in the ileum (n = 5), followed by the colon (n = 2) and then the jejunum (n = 1). All colonic strictures developed in the “watershed zone.” The pathologic features of post-ischemic stricture were deep ulceration, submucosal/subserosal fibrosis and chronic transmural inflammation. The mean length of the post-ischemic stricture was 7.4 cm. All patients in this study possessed one single stricture. On contrast-enhanced CT, most strictures possessed concentric wall thickening (87.5%), with moderate enhancement (87.5%), mucosal enhancement (50%), or higher enhancement in portal phase than arterial phase (66.7%). Conclusion Post-ischemic strictures develop in the ileum, jejunum and colon after an interval of several weeks. In the colonic segment, strictures mainly occur in the “watershed zone.” Typical CT findings include a single area of concentric wall thickening of medium length (mean, 7.4 cm), with moderate and higher enhancement in portal phase and vasa recta prominence. PMID:29089826

Normalization of similarity-based individual brain networks from gray matter MRI and its association with neurodevelopment in infants with intrauterine growth restriction.

PubMed

Batalle, Dafnis; Muñoz-Moreno, Emma; Figueras, Francesc; Bargallo, Nuria; Eixarch, Elisenda; Gratacos, Eduard

2013-12-01

Obtaining individual biomarkers for the prediction of altered neurological outcome is a challenge of modern medicine and neuroscience. Connectomics based on magnetic resonance imaging (MRI) stands as a good candidate to exhaustively extract information from MRI by integrating the information obtained in a few network features that can be used as individual biomarkers of neurological outcome. However, this approach typically requires the use of diffusion and/or functional MRI to extract individual brain networks, which require high acquisition times and present an extreme sensitivity to motion artifacts, critical problems when scanning fetuses and infants. Extraction of individual networks based on morphological similarity from gray matter is a new approach that benefits from the power of graph theory analysis to describe gray matter morphology as a large-scale morphological network from a typical clinical anatomic acquisition such as T1-weighted MRI. In the present paper we propose a methodology to normalize these large-scale morphological networks to a brain network with standardized size based on a parcellation scheme. The proposed methodology was applied to reconstruct individual brain networks of 63 one-year-old infants, 41 infants with intrauterine growth restriction (IUGR) and 22 controls, showing altered network features in the IUGR group, and their association with neurodevelopmental outcome at two years of age by means of ordinal regression analysis of the network features obtained with Bayley Scale for Infant and Toddler Development, third edition. Although it must be more widely assessed, this methodology stands as a good candidate for the development of biomarkers for altered neurodevelopment in the pediatric population. © 2013 Elsevier Inc. All rights reserved.

Recent Observations and Modeling of Narrowband Stimulated Electromagnetic Emissions SEEs at HAARP and EISCAT

NASA Astrophysics Data System (ADS)

Scales, W.; Mahmoudian, A.; Fu, H.; Bordikar, M. R.; Samimi, A.; Bernhardt, P. A.; Briczinski, S. J., Jr.; Kosch, M. J.; Senior, A.; Isham, B.

2014-12-01

There has been significant interest in so-called narrowband Stimulated Electromagnetic Emission SEE over the past several years due to recent discoveries at the High Frequency Active Auroral Research Program HAARP facility near Gakone, Alaska. Narrowband SEE (NSEE) has been defined as spectral features in the SEE spectrum typically within 1 kHz of the transmitter (or pump) frequency. SEE is due to nonlinear processes leading to re-radiation at frequencies other than the pump wave frequency during heating the ionospheric plasma with high power HF radio waves. Although NSEE exhibits a richly complex structure, it has now been shown after a substantial number of observations at HAARP, that NSEE can be grouped into two basic classes. The first are those spectral features, associated with Stimulated Brillouin Scatter SBS, which typically occur when the pump frequency is not close to electron gyro-harmonic frequencies. Typically, these spectral features are within roughly 50 Hz of the pump wave frequency where it is to be noted that the O+ ion gyro-frequency is roughly 50 Hz. The second class of spectral features corresponds to the case when the pump wave frequency is typically within roughly 10 kHz of electron gyro-harmonic frequencies. In this case, spectral features ordered by harmonics of ion gyro-frequencies are typically observed, and termed Stimulated Ion Bernstein Scatter SIBS. This presentation will first provide an overview of the recent NSEE experimental observations at HAARP. Both Stimulated Brillouin Scatter SBS and Stimulated Ion Bernstein Scatter SIBS observations will be discussed as well as their relationship to each other. Possible theoretical formulation in terms of parametric decay instabilities and computational modeling will be provided. Possible applications of NSEE will be pointed out including triggering diagnostics for artificial ionization layer formation, proton precipitation event diagnostics, electron temperature measurements in the heated volume and detection of heavy ion species. Finally potential for observing such SEE at the European Incoherent Scatter EISCAT facility will be discussed.

Frontal fibrosing alopecia in postmenopausal women.

PubMed

Tosti, Antonella; Piraccini, Bianca Maria; Iorizzo, Matilde; Misciali, Cosimo

2005-01-01

Frontal fibrosing alopecia is a variety of cicatricial alopecia characterized by a band of frontal/frontoparietal hair recession and marked decrease or a complete loss of the eyebrows, typically observed in women who are postmenopausal. The purpose of this study was to report clinical and histopathologic findings and results of treatment in a group of women affected by the disease. A total of 14 women with alopecia of the frontal hairline were evaluated from June 2000 through July 2003 in our outpatient consultation for hair disorders. Clinical examination revealed a band of symmetric recession of the frontoparietal hairline extending to the preauricular areas associated with loss of follicular orifices, mild skin atrophy, and perifollicular erythema at the scalp margin. In all, 9 patients also had partial or total loss of the eyebrows. The histologic features of the scalp specimens were similar in all our patients with a reduction of the number of hair follicles, and a high number of intermediate and velluslike follicles. Intemediate and velluslike follicles were more commonly affected than terminal follicles by the lymphocytic inflammatory infiltrate and perifollicular fibrosis. Frontal fibrosing alopecia is a cicatricial alopecia that follows destruction of hair follicles by an inflammatory lymphocytic infiltrate that is localized around the upper portion of the hair follicle. It differs from lichen planopilaris because the lymphocytic infiltrate and fibrosis affect selectively the intermediate and the velluslike follicles of the frontal margin and eyebrows. The reason for this selective involvement is still unknown. Frontal fibrosing alopecia may represent a variety of lichen planopilaris with selective involvement of certain androgen-dependent areas. The affected follicles may have typical biologic markers that could explain the clinical and histologic features found in the disease. It is interesting to note that some of the patients treated with finasteride (2.5 mg/d) showed an arrest in the progression of the disease. Even if there is no proof for a hormonal basis of the disease, the effectiveness of finasteride in some patients may indicate that androgens might be partially responsible of the pathogenesis of the disease.

Traumatic intracranial injury in intoxicated patients with minor head trauma.

PubMed

Easter, Joshua S; Haukoos, Jason S; Claud, Jonathan; Wilbur, Lee; Hagstrom, Michelle Tartalgia; Cantrill, Stephen; Mestek, Michael; Symonds, David; Bakes, Katherine

2013-08-01

Studies focusing on minor head injury in intoxicated patients report disparate prevalences of intracranial injury. It is unclear if the typical factors associated with intracranial injury in published clinical decision rules for computerized tomography (CT) acquisition are helpful in differentiating patients with and without intracranial injuries, as intoxication may obscure particular features of intracranial injury such as headache and mimic other signs of head injury such as altered mental status. This study aimed to estimate the prevalence of intracranial injury following minor head injury (Glasgow Coma Scale [GCS] score ≥14) in intoxicated patients and to assess the performance of established clinical decision rules in this population. This was a prospective cohort study of consecutive intoxicated adults presenting to the emergency department (ED) following minor head injury. Historical and physical examination features included those from the Canadian CT Head Rule, National Emergency X-Radiography Utilization Study (NEXUS), and New Orleans Criteria. All patients underwent head CT. A total of 283 patients were enrolled, with a median age of 40 years (interquartile range [IQR] = 28 to 48 years) and median alcohol concentration of 195 mmol/L (IQR = 154 to 256 mmol/L). A total of 238 of 283 (84%) were male, and 225 (80%) had GCS scores of 15. Clinically important injuries (injuries requiring admission to the hospital or neurosurgical follow-up) were identified in 23 patients (8%; 95% confidence interval [CI] = 5% to 12%); one required neurosurgical intervention (0.4%, 95% CI = 0% to 2%). Loss of consciousness and headache were associated with clinically important intracranial injury on CT. The Canadian CT Head Rule had a sensitivity of 70% (95% CI = 47% to 87%) and NEXUS criteria had a sensitivity of 83% (95% CI = 61% to 95%) for clinically important injury in intoxicated patients. In this study, the prevalence of clinically important injury in intoxicated patients with minor head injury was significant. While the presence of the common features associated with intracranial injury in nonintoxicated patients should raise clinical suspicion for intracranial injury in intoxicated patients, the Canadian CT Head Rule and NEXUS criteria do not have adequate sensitivity to be applied in intoxicated patients with minor head injury. © 2013 by the Society for Academic Emergency Medicine.

Reversible conduction block in peripheral nerve using electrical waveforms.

PubMed

Bhadra, Niloy; Vrabec, Tina L; Bhadra, Narendra; Kilgore, Kevin L

2018-01-01

Electrical nerve block uses electrical waveforms to block action potential propagation. Two key features that distinguish electrical nerve block from other nonelectrical means of nerve block: block occurs instantly, typically within 1 s; and block is fully and rapidly reversible (within seconds). Approaches for achieving electrical nerve block are reviewed, including kilohertz frequency alternating current and charge-balanced polarizing current. We conclude with a discussion of the future directions of electrical nerve block. Electrical nerve block is an emerging technique that has many significant advantages over other methods of nerve block. This field is still in its infancy, but a significant expansion in the clinical application of this technique is expected in the coming years.

[Sinonasal-type haemangiopericytoma: a case report].

PubMed

Uğur Duman, Fazilet; Ayhan, Semin; İşisağ, Aydin; Eskiizmir, Görkem; Tarhan, Serdar

2015-01-01

Sinonasal-type hemangiopericytomas, which comprise less than 0.5% of all sinonasal neoplasms, arise unilaterally in the nasal cavity as polypoid masses with a mean diameter of about 3 cm. A 34-year-old female patient was admitted due to nasal obstruction and epistaxis. A polypoid mass covered with intact mucosa that originated both from the right inferior concha and lateral nasal wall was detected by nasal endoscopy. The tumor, extending from the oropharynx to the nasopharynx, was measured as 3,5x3x2 cm. Although exhibiting characteristic histopathological features and typical clinical symptoms, this case with unexpected immunohistochemical findings can provide a viewpoint on the nature of this kind of tumors.

Proximal-type epithelioid sarcoma - Case report*

PubMed Central

dos Santos, Luciana Mendes; Nogueira, Lisiane; Matsuo, Christiane Yuri; Talhari, Carolina; Santos, Mônica

2013-01-01

Epithelioid sarcoma, first described by Enzinger in 1970, is a rare soft-tissue sarcoma typically presenting as a subcutaneous or deep dermal mass in distal portions of the extremities of adolescents and young adults. In 1997, Guillou et al. described a different type of epithelioid sarcoma, called proximal-type epithelioid sarcoma, which is found mostly in the pelvic and perineal regions and genital tracts of young to middle-aged adults. It is characterized by a proliferation of epithelioid-like cells with rhabdoid features and the absence of a granuloma-like pattern. In this paper we present a case of proximal-type epithelioid sarcoma with an aggressive clinical course, including distant metastasis and death nine months after diagnosis. PMID:23793215

A Multidimensional Reappraisal of Language in Autism: Insights from a Discourse Analytic Study.

PubMed

Sterponi, Laura; de Kirby, Kenton

2016-02-01

In this article, we leverage theoretical insights and methodological guidelines of discourse analytic scholarship to re-examine language phenomena typically associated with autism. Through empirical analysis of the verbal behavior of three children with autism, we engage the question of how prototypical features of autistic language-notably pronoun atypicality, pragmatic deficit, and echolalia-might conceal competencies and interactional processes that are largely invisible in mainstream research. Our findings offer a complex picture of children with autism in their use of language to communicate, interact and experience others. Such a picture also deepens our understanding of the interactional underpinnings of autistic children's speech. Finally, we describe how our findings offer fruitful suggestions for clinical intervention.

Botryomycosis presenting as nasal cutaneous fistulas caused by Prevotella melaninogenica.

PubMed

Huang, C-F; Liaw, F-Y; Dai, N-T; Ou, K-W; Wang, C-C; Wang, W-M

2012-07-01

Botryomycosis is an uncommon chronic suppurative granulomatous bacterial infection that can affect the skin and viscera. Clinically, lesions typically consist of small tender nodules from which draining sinuses may develop to expel a purulent discharge. Histopathological features include characteristic aggregation of microorganisms (grain) within the inflammatory infiltrate. The commonest causative organisms are Staphylococcus aureus and Pseudomonas aeruginosa, of others. Botryomycosis resulting from Prevotella melaninogenica has not been reported previously. We report the case of a middle-aged patient with botryomycosis presenting as nasal cutaneous fistulas caused by P. melaninogenica, which was successfully treated with surgical intervention combined with systemic antibiotic treatment. © The Author(s). CED © 2011 British Association of Dermatologists.

Imaging of benign and malignant cystic pancreatic lesions and a strategy for follow up

PubMed Central

Bhosale, Priya; Balachandran, Aparna; Tamm, Eric

2010-01-01

Cystic lesions in a variety of organs are being increasingly recognized as an incidental finding on cross-sectional imaging. These lesions can be benign, premalignant or malignant. When these cystic lesions are small it can be difficult to characterize them radiologically. However, with appropriate clinical history and knowledge of typical imaging features of cystic pancreatic lesions this can enable accurate diagnosis and thus guide appropriate treatment. In this review, we provide an overview of the most common types of cystic lesions and their appearance on computer tomography, magnetic resonance imaging and ultrasound. We will also discuss the follow up and management strategies of these cystic lesions. PMID:21160696

Pemphigus vulgaris associated with autoimmune hemolytic anemia and elevated TNF alpha.

PubMed

Ujihara, M; Hamanaka, S; Matsuda, S; Numa, F; Kato, H

1994-01-01

A 76-year-old female was admitted with many bullae and erythema on her trunk and extremities. A biopsy specimen showed significant intercellular edema in the lower epidermis and eosinophilic infiltration into the dermis and the epidermis. Immunofluorescent staining revealed the deposition of IgG in the intercellular area of her prickle cells. From these histologic findings and the typical clinical features, we diagnosed her as having pemphigus vulgaris. Examination of her blood revealed that she also suffered from autoimmune hemolytic anemia. Despite intensive treatment with prednisolone, she finally died. This case is of interest because of its rarity and the TNF alpha detected significantly in the blister fluid of this patient.

Motor stereotypy disorders.

PubMed

Muthugovindan, Deivasumathy; Singer, Harvey

2009-04-01

This review highlights recent advances in understanding the clinical features, prevalence, and outcomes of motor stereotypy disorders in typically developing children. Longitudinal data indicate that stereotypies in children with normal intelligence show an early age of onset, chronicity, and high prevalence of comorbid difficulties, including tics, obsessive-compulsive behaviors, and attention deficit hyperactivity disorder. The underlying abnormality remains unknown, but there is increasing evidence for Mendelian inheritance and a neurobiological mechanism. Primary motor stereotypies are relatively common in childhood and can be subdivided into three groups (common, head nodding, and complex motor). Movements are similar to those seen in children with autistic spectrum disorders, mental retardation, and sensory deprivation. The role of pharmacotherapy is not established and behavioral therapy can be beneficial.

Enhancing Health Care Delivery through Ambient Intelligence Applications

PubMed Central

Kartakis, Sokratis; Sakkalis, Vangelis; Tourlakis, Panagiotis; Zacharioudakis, Georgios; Stephanidis, Constantine

2012-01-01

This paper presents the implementation of a smart environment that employs Ambient Intelligence technologies in order to augment a typical hospital room with smart features that assist both patients and medical staff. In this environment various wireless and wired sensor technologies have been integrated, allowing the patient to control the environment and interact with the hospital facilities, while a clinically oriented interface allows for vital sign monitoring. The developed applications are presented both from a patient's and a doctor's perspective, offering different services depending on the user's role. The results of the evaluation process illustrate the need for such a service, leading to important conclusions about the usefulness and crucial role of AmI in health care. PMID:23112664

Nutcracker syndrome in adolescent with perineal pain: An interesting case of an adolescent with perineal pain due to pelvic congestion from nutcracker syndrome with relief after balloon venoplasty and sclerotherapy.

PubMed

Boyer, Kathleen; Filan, Eamon; Ching, Brian; Rooks, Veronica; Kellicut, Dwight

2018-02-01

Nutcracker phenomenon is the descriptor for a patient's anatomy whenever the left renal vein becomes compressed between the abdominal aorta and the superior mesenteric artery. Nutcracker syndrome is the terminology used when the nutcracker phenomenon is accompanied by symptoms including pain (abdominal, flank, pelvic), hematuria, and orthostatic proteinuria. Diagnosis can be made with Doppler ultrasound, venography, computed tomography, or magnetic resonance imaging. This case demonstrates some of the typical findings of nutcracker syndrome. The limited clinical features and interesting imaging findings, in addition to the young age of the patient, make this a notable case.

Diagnosis of B-Cell Non-Hodgkin Lymphomas with Small-/Intermediate-Sized Cells in Cytopathology

PubMed Central

Schwock, Joerg; Geddie, William R.

2012-01-01

Fine needle sampling is a fast, safe, and potentially cost-effective method of obtaining tissue for cytomorphologic assessment aimed at both initial triage and, in some cases, complete diagnosis of patients that present clinically with lymphadenopathy. The cytologic diagnosis of B-cell non-Hodgkin lymphomas composed of small-/intermediate-sized cells, however, has been seen as an area of great difficulty even for experienced observers due to the morphologic overlap between lymphoma and reactive lymphadenopathies as well as between the lymphoma entities themselves. Although ancillary testing has improved diagnostic accuracy, the results from these tests must be interpreted within the morphological and clinical context to avoid misinterpretation. Importantly, the recognition of specific cytologic features is crucial in guiding the appropriate selection of ancillary tests which will either confirm or refute a tentative diagnosis. For these reasons, we here review the cytologic characteristics particular to five common B-cell non-Hodgkin lymphomas which typically cause the most diagnostic confusion based on cytological assessment alone: marginal zone lymphoma, follicular lymphoma, mantle cell lymphoma, chronic lymphocytic leukemia/small lymphocytic lymphoma, and lymphoplasmacytic lymphoma. We summarize the most pertinent cytomorphologic features for each entity as well as for reactive lymphoid hyperplasia, contrast them with each other to facilitate their recognition, and highlight common diagnostic pitfalls. PMID:22693682

Warthin tumor: a potential source of diagnostic error.

PubMed

Colella, Giuseppe; Tozzi, Umberto; Pagliarulo, Valentina; Bove, Pierfrancesco

2010-11-01

Warthin tumor, also known as papillary cystadenoma lymphomatosum, is a fairly common tumor. It makes up 14% to 30% of parotid tumors. There has been much interest in this tumor because of its typical and intriguing morphologic features: the association of benign-looking lymphoid and epithelial components and its frequent occurrence in the intraparotid or periparotid lymph nodes. Moreover, multifocal and/or bilateral Warthin tumors have been reported, and malignant transformation of Warthin tumor and its association with other malignancies have been documented. Warthin tumor can sometimes be confused with other pathologic lesions because of symptoms and signs that accompany the disease, so it could be treated as other pathologic lesions. We present 3 patients. The first one had a differentiated squamous cell carcinoma, no lymph node metastasis, and a Warthin tumor of the left parotid gland. The other 2 patients presented monoclonal gammopathy and a high tracer uptake in the left parotid gland by the 18F-fluorodeoxyglucose positron emission tomography/computed tomography total body. The aim of this study was to evaluate the clinical and histopathologic features of 3 cases where clinical presentation of a Warthin tumor lies in the possible errors in diagnosis and decision making and not least in the management of the patient.

Mucor irregularis infection and lethal midline granuloma: a case report and review of published literature.

PubMed

Li, Dong Ming; Lun, Li De

2012-12-01

Mucor irregularis (Rhizomucor variabilis) infection and lethal midline granuloma (LMG) are characterized by progressive swelling, ulceration, and destruction of the central face that is usually fatal. Pathological features are inflammation, necrosis, and granulation. LMG has been called by various names, and in recent years, it has been known as NK/T cell lymphoma. However, diagnosis still relies on the progressive necrosis course rather than malignancy in histology. The disease has long challenged physicians, particularly when it worsens with radiotherapy or chemotherapy but sometimes achieves total remission without anti-malignancy therapies. We describe a 35-year-old man who had typical clinical-pathological symptoms of LMG, which turned out to be primary M. irregularis infection; that was diagnosed by positive tissue culture and fungal elements in histology. The patient was successfully treated with antifungal therapy (liposomal amphotericin B, total 4,600 mg and amphotericin B total 277 mg, over a duration of 70 days). We hereby review current knowledge about the epidemiology, clinical manifestations, radiographic characteristics, and pathologic features of LMG with those of M. irregularis infection and their associations. We conclude that primary M. irregulars infection can mimic the clinico-pathological symptoms of LMG and the condition responds favorably to aggressive antifungal therapy.

Gray Matter Heterotopia, Mental Retardation, Developmental Delay, Microcephaly, and Facial Dysmorphisms in a Boy with Ring Chromosome 6: A 10-Year Follow-Up and Literature Review.

PubMed

Liu, Shu; Wang, Zhiqing; Wei, Sisi; Liang, Jinqun; Chen, Nuan; OuYang, Haimei; Zeng, Weihong; Chen, Liying; Xie, Xunjie; Jiang, Jianhui

2018-04-14

Ring chromosome 6, r(6), is an extremely rare cytogenetic abnormality with clinical heterogeneity which arises typically de novo. The phenotypes of r(6) can be highly variable, ranging from almost normal to severe malformations and neurological defects. Up to now, only 33 cases have been reported in the literature. In this 10-year follow-up study, we report a case presenting distinctive facial features, severe developmental delay, and gray matter heterotopia with r(6) and terminal deletions of 6p25.3 (115426-384174, 268 kb) and 6q26-27 (168697778-170732033, 2.03 Mb) encompassing 2 and 15 candidate genes, respectively, which were detected using G-banding karyotyping, FISH, and chromosomal microarray analysis. We also analyzed the available information on the clinical features of the reported r(6) cases in order to provide more valuable information on genotype-phenotype correlations. To the best of our knowledge, this is the first report of gray matter heterotopia manifested in a patient with r(6) in China, and the deletions of 6p and 6q in our case are the smallest with the precise size of euchromatic material loss currently known. © 2018 S. Karger AG, Basel.

Polycystic ovary syndrome: insight into pathogenesis and a common association with insulin resistance.

PubMed

Barber, Thomas M; Dimitriadis, George K; Andreou, Avgi; Franks, Stephen

2016-06-01

Polycystic ovary syndrome (PCOS) is a common condition that typically develops in reproductive-age women. The cardinal clinical and biochemical characteristics of PCOS include reproductive dysfunction and hyperandrogenic features. PCOS is also strongly associated with obesity based on data from epidemiological and genetic studies. Accordingly, PCOS often becomes manifest in those women who carry a genetic predisposition to its development, and who also gain weight. The role of weight gain and obesity in the development of PCOS is mediated at least in part, through worsening of insulin resistance. Compensatory hyperinsulinaemia that develops in this context disrupts ovarian function, with enhanced androgen production and arrest of ovarian follicular development. Insulin resistance also contributes to the strong association of PCOS with adverse metabolic risk, including dysglycaemia, dyslipidaemia and fatty liver. Conversely, modest weight loss of just 5% body weight with improvement in insulin sensitivity, frequently results in clinically meaningful improvements in hyperandrogenic, reproductive and metabolic features. Future developments of novel therapies for obese women with PCOS should focus on promotion of weight loss and improvement in insulin sensitivity. In this context, therapies that complement lifestyle changes such as dietary modification and exercise, particularly during the maintenance phase of weight loss are important. Putative novel targets for therapy in PCOS include human brown adipose tissue. © 2016 Royal College of Physicians.

Maturity-Onset Diabetes of the Young (MODY): Making the Right Diagnosis to Optimize Treatment.

PubMed

Amed, Shazhan; Oram, Richard

2016-10-01

Maturity onset diabetes of the young (MODY) is a rare but increasingly recognized cause of diabetes in young people. It is a monogenic disorder that typically presents at <25 years of age, is non-insulin dependent and is familial, with an autosomal dominant pattern of inheritance. The most common forms of MODY are caused by mutations in glucokinase and hepatic nuclear factor 1 alpha or 4 alpha genes and account for almost 80% of cases of MODY. MODY is commonly misdiagnosed as type 1 or type 2 diabetes and, as a result, patients are often inappropriately managed with insulin when they can be more effectively managed with oral sulfonylureas. Therefore, making the right diagnosis is critical for effective treatment as well as for genetic counselling and, more important, for patients' quality of life. In this review, we aim to raise awareness about MODY among diabetes clinicians by describing key clinical and laboratory features of the most common forms of MODY, outlining features that might help to differentiate MODY from type 1 and type 2 diabetes and providing information about clinical tests and tools that might assist in identifying patients who are most likely to benefit from molecular genetic testing. Copyright © 2016 Canadian Diabetes Association. Published by Elsevier Inc. All rights reserved.

[Specific features of Becker Muscular Dystrophy patients and female carriers of Duchenne Muscular Dystrophy].

PubMed

Magot, A; Mercier, S; Péréon, Y

2015-12-01

Becker muscular dystrophy (BMD) was first described in 1955 and linked to the DMD gene in 1987. Compared to Duchenne muscular dystrophy (DMD), clinical onset of BMD usually occurs after the age of 12 and wheelchair is required after the age of 16. BMD is characterized by generalized weakness first affecting limb girdle muscles, hypertrophy of the calves and cardiomyopathy in males. Some patients have only mild symptoms such as cramps or elevated serum creatine kinases (SCK) throughout all their lives. SCK levels are usually elevated. Muscle biopsy (immunohistochemistry or immunoblotting) shows a dystrophic pattern with abnormal dystrophin staining. Diagnosis is confirmed by DMD gene sequencing. Deletions or duplications of one or several exons are identified in the majority of cases. A multidisciplinary approach is recommended for the care management of these patients with a particular attention to the cardiomyopathy, which is typically responsible for death but can be prevented by specific treatment. X-linked dilated cardiomyopathies linked to DMD gene are a phenotypic continuum of BMD. Some female carriers of DMD mutations exhibit clinical symptoms of variable severity, often milder and beginning later than in males. The cardiomyopathy is the most frequent feature that should be especially monitored in these patients. Genetic counselling should be systematically proposed. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Clinical and Molecular Features of Laron Syndrome, A Genetic Disorder Protecting from Cancer.

PubMed

Janecka, Anna; Kołodziej-Rzepa, Marta; Biesaga, Beata

2016-01-01

Laron syndrome (LS) is a rare, genetic disorder inherited in an autosomal recessive manner. The disease is caused by mutations of the growth hormone (GH) gene, leading to GH/insulin-like growth factor type 1 (IGF1) signalling pathway defect. Patients with LS have characteristic biochemical features, such as a high serum level of GH and low IGF1 concentration. Laron syndrome was first described by the Israeli physician Zvi Laron in 1966. Globally, around 350 people are affected by this syndrome and there are two large groups living in separate geographic regions: Israel (69 individuals) and Ecuador (90 individuals). They are all characterized by typical appearance such as dwarfism, facial phenotype, obesity and hypogenitalism. Additionally, they suffer from hypoglycemia, hypercholesterolemia and sleep disorders, but surprisingly have a very low cancer risk. Therefore, studies on LS offer a unique opportunity to better understand carcinogenesis and develop new strategies of cancer treatment. Copyright © 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

Cross-species assessments of motor and exploratory behavior related to bipolar disorder.

PubMed

Henry, Brook L; Minassian, Arpi; Young, Jared W; Paulus, Martin P; Geyer, Mark A; Perry, William

2010-07-01

Alterations in exploratory behavior are a fundamental feature of bipolar mania, typically characterized as motor hyperactivity and increased goal-directed behavior in response to environmental cues. In contrast, abnormal exploration associated with schizophrenia and depression can manifest as prominent withdrawal, limited motor activity, and inattention to the environment. While motor abnormalities are cited frequently as clinical manifestations of these disorders, relatively few empirical studies have quantified human exploratory behavior. This article reviews the literature characterizing motor and exploratory behavior associated with bipolar disorder and genetic and pharmacological animal models of the illness. Despite sophisticated assessment of exploratory behavior in rodents, objective quantification of human motor activity has been limited primarily to actigraphy studies with poor cross-species translational value. Furthermore, symptoms that reflect the cardinal features of bipolar disorder have proven difficult to establish in putative animal models of this illness. Recently, however, novel tools such as the human behavioral pattern monitor provide multivariate translational measures of motor and exploratory activity, enabling improved understanding of the neurobiology underlying psychiatric disorders.

Is it Sjögren's syndrome or burning mouth syndrome? Distinct pathoses with similar oral symptoms.

PubMed

Aljanobi, Hawra; Sabharwal, Amarpreet; Krishnakumar, Bralavan; Kramer, Jill M

2017-04-01

Sjögren's syndrome (SS) and burning mouth syndrome (BMS) typically occur in postmenopausal women. Although these conditions have significantly different etiopathogeneses, patients with SS or BMS often present with analogous oral complaints. The similarities between the two conditions have led to considerable confusion on the part of medical and dental practitioners, and those with BMS or SS often wait years to receive a diagnosis. Therefore, it is imperative for clinicians to understand the characteristic subjective and objective features of each disease and how these can be used to distinguish them. This review will discuss the proposed etiology, clinical manifestations, histopathology, diagnostic criteria, and patient management of SS and BMS. We also identify key differences between the two pathoses that aid in establishing the correct diagnosis. Recognition of the defining features of each condition will lead to reduced time to diagnosis and improved patient management for these poorly understood conditions. Copyright © 2017 Elsevier Inc. All rights reserved.

Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.

PubMed

Kaczorowska, Ewa; Zimowski, Janusz; Cichoń-Kotek, Monika; Mrozińska, Agnieszka; Purzycka, Joanna; Wierzba, Jolanta; Limon, Janusz; Lipska-Ziętkiewicz, Beata S

Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally. Here, we report a 4 ½ year-old female with classical 45,X Turner syndrome who also had Duchenne muscular dystrophy caused by a point mutation in the dystrophin gene (c.9055delG). The patient showed the typical phenotype of Turner syndrome including distinctive dysmorphic features (short neck, low posterior hairline, wide position of nipples), aortic coarctation and feet lymphedema. Besides, she presented with an unusually early beginning of muscular dystrophy symptoms with infantile-onset motor developmental delay, intellectual disability and early calf muscular hypertrophy. The coexistence of an X-linked recessive disorder should be considered in women affected by Turner syndrome presenting with additional atypical clinical features.

Aphasic variant of Alzheimer disease

PubMed Central

Sridhar, Jaiashre; Rader, Benjamin; Martersteck, Adam; Chen, Kewei; Cobia, Derin; Thompson, Cynthia K.; Weintraub, Sandra; Bigio, Eileen H.; Mesulam, M.-Marsel

2016-01-01

Objective: To identify features of primary progressive aphasia (PPA) associated with Alzheimer disease (AD) neuropathology. A related objective was to determine whether logopenic PPA is a clinical marker for AD. Methods: A total of 139 prospectively enrolled participants with a root diagnosis of PPA constituted the reference set. Those with autopsy or biomarker evidence of AD, and who had been evaluated at mild disease stages (Aphasia Quotient ≥85), were included (n = 19). All had quantitative language testing and APOE genotyping. Fifteen had MRI morphometry. Results: Impaired word-finding was the universal presenting complaint in the aphasic AD group. PPA clinical subtype was logopenic (n = 13) and agrammatic (n = 6). Fluency, repetition, naming, and grammaticality ranged from preserved to severely impaired. All had relative preservation of word comprehension. Eight of the 15 aphasic participants with AD showed no appreciable cortical atrophy at the individual level on MRI. As a group, atrophy was asymmetrically concentrated in the left perisylvian cortex. APOE ε4 frequency was not elevated. Conclusions: There is a close, but not obligatory, association between logopenic PPA and AD. No language measure, with the possible exception of word comprehension, can confirm or exclude AD in PPA. Biomarkers are therefore essential for diagnosis. Asymmetry of cortical atrophy and normal APOE ε4 prevalence constitute deviations from typical AD. These and additional neuropathologic features suggest that AD has biological subtypes, one of which causes PPA. Better appreciation of this fact should promote the inclusion of individuals with PPA and positive AD biomarkers into relevant clinical trials. PMID:27566743

Clinical and genetic features of human prion diseases in Catalonia: 1993-2002.

PubMed

Sanchez-Valle, R; Nos, C; Yagüe, J; Graus, F; Domínguez, A; Saiz, A

2004-10-01

We describe the clinical and genetic characteristics of the 85 definite or probable human prion diseases cases died between January 1993 and December 2002 in Catalonia (an autonomous community of Spain, 6 million population). Seventy-three (86%) cases were sporadic Creutzfeld-Jakob diseases (sCJD) (49 definite, 24 probable), with a median age at onset of 66 years. The clinical presentation was dementia in 29 cases, ataxia in 14 and visual symptoms in five. The median survival was 3 months. The 14-3-3 assay was positive in 93% cases, 62% presented periodic sharp wave complexes (PSWC) in EEG but only 18% the typical signs on MRI. Forty-eight sCJD were studied for codon 129 PRNP polymorphism: 69% were methionine/methionine (M/M), 14.5% valine/valine (V/V) and 16.5% M/V. Six out of seven V/V cases did not present PSWC and in two survival was longer than 20 months. Eleven cases (13%) were genetic: five familial fatal insomnia and six familial CJD (fCJD). Up to four (67%) fCJD lacked family history of disease, two presented seizures early at onset and one neurosensorial deafness. The only iatrogenic case was related to a dura mater graft. No case of variant CJD was registered. The study confirms in our population the consistent pattern reported worldwide on human prion diseases. Atypical features were seen more frequently in sporadic 129 V/V CJD and fCJD cases.

Expanded clinical phenotype of women with the FMR1 premutation.

PubMed

Coffey, Sarah M; Cook, Kylee; Tartaglia, Nicole; Tassone, Flora; Nguyen, Danh V; Pan, Ruiqin; Bronsky, Hannah E; Yuhas, Jennifer; Borodyanskaya, Mariya; Grigsby, Jim; Doerflinger, Melanie; Hagerman, Paul J; Hagerman, Randi J

2008-04-15

Fragile X-associated tremor/ataxia syndrome (FXTAS) is generally considered to be uncommon in older female carriers of premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene; however, neither prevalence, nor the nature of the clinical phenotype, has been well characterized in female carriers. In this study, we evaluated 146 female carriers (mean, 42.3 years; range, 20-75 years) with and without core features of FXTAS (tremor; gait ataxia), and 69 age-matched controls (mean, 45.8 years; range, 21-78 years). Compared with controls, carriers with definite or probable FXTAS had greater medical co-morbidity, with increased prevalence of thyroid disease (P = 0.0096), hypertension (P = 0.0020), seizures (P = 0.0077), peripheral neuropathy (P = 0.0040), and fibromyalgia (P = 0.0097), in addition to the typical symptoms of FXTAS-tremor (P < 0.0001) and ataxia (P < 0.0001). The non-FXTAS premutation group had more complaints of chronic muscle pain (P = 0.0097), persistent paraesthesias in extremities (P < 0.0001), and history of tremor (P < 0.0123) than controls. The spectrum of clinical involvement in female carriers with FXTAS is quite broad, encompassing a number of medical co-morbidities as well as the core movement disorder. The remarkable degree of thyroid dysfunction (17% in the non-FXTAS group and 50% in the FXTAS group) warrants consideration of thyroid function studies in all female premutation carriers, particularly those with core features of FXTAS. Copyright 2008 Wiley-Liss, Inc.

Classification of autism spectrum disorder using supervised learning of brain connectivity measures extracted from synchrostates

NASA Astrophysics Data System (ADS)

Jamal, Wasifa; Das, Saptarshi; Oprescu, Ioana-Anastasia; Maharatna, Koushik; Apicella, Fabio; Sicca, Federico

2014-08-01

Objective. The paper investigates the presence of autism using the functional brain connectivity measures derived from electro-encephalogram (EEG) of children during face perception tasks. Approach. Phase synchronized patterns from 128-channel EEG signals are obtained for typical children and children with autism spectrum disorder (ASD). The phase synchronized states or synchrostates temporally switch amongst themselves as an underlying process for the completion of a particular cognitive task. We used 12 subjects in each group (ASD and typical) for analyzing their EEG while processing fearful, happy and neutral faces. The minimal and maximally occurring synchrostates for each subject are chosen for extraction of brain connectivity features, which are used for classification between these two groups of subjects. Among different supervised learning techniques, we here explored the discriminant analysis and support vector machine both with polynomial kernels for the classification task. Main results. The leave one out cross-validation of the classification algorithm gives 94.7% accuracy as the best performance with corresponding sensitivity and specificity values as 85.7% and 100% respectively. Significance. The proposed method gives high classification accuracies and outperforms other contemporary research results. The effectiveness of the proposed method for classification of autistic and typical children suggests the possibility of using it on a larger population to validate it for clinical practice.

Thyroidectomy for Painful Thyroiditis Resistant to Steroid Treatment: Three New Cases with Review of the Literature

PubMed Central

Mazza, Enrico; Quaglino, Francesco; Suriani, Adolfo; Palestini, Nicola; Gottero, Cristina; Leli, Renzo; Taraglio, Stefano

2015-01-01

Thyroidal pain is usually due to subacute thyroiditis (SAT). In more severe forms prednisone doses up to 40 mg daily for 2-3 weeks are recommended. Recurrences occur rarely and restoration of steroid treatment cures the disease. Rarely, patients with Hashimoto's thyroiditis (HT) have thyroidal pain (painful HT, PHT). Differently from SAT, occasional PHT patients showed no benefit from medical treatment so that thyroidectomy was necessary. We report three patients who did not show clinical response to prolonged high dose prednisone treatment: a 50-year-old man, a 35-year-old woman, and a 33-year-old woman. Thyroidectomy was necessary, respectively, after nine-month treatment with 50 mg daily, two-month treatment with 75 mg daily, and one-month treatment with 50 mg daily. The two women were typical cases of PHT. Conversely, in the first patient, thyroid histology showed features of granulomatous thyroiditis, typical of SAT, without fibrosis or lymphocytic infiltration, typical of HT/PHT, coupled to undetectable serum anti-thyroid antibodies. Our data (1) suggest that not only PHT but also SAT may show resistance to steroid treatment and (2) confirm a previous observation in a single PHT patient that increasing prednisone doses above conventional maximal dosages may not be useful in these patients. PMID:26137327

Intraepidermal Merkel cell carcinoma: A case series of a rare entity with clinical follow up.

PubMed

Jour, George; Aung, Phyu P; Rozas-Muñoz, Eduardo; Curry, Johnathan L; Prieto, Victor; Ivan, Doina

2017-08-01

Merkel cell carcinoma (MCC) is a rare but aggressive cutaneous carcinoma. MCC typically involves dermis and although epidermotropism has been reported, MCC strictly intraepidermal or in situ (MCCIS) is exceedingly rare. Most of the cases of MCCIS described so far have other associated lesions, such as squamous or basal cell carcinoma, actinic keratosis and so on. Herein, we describe 3 patients with MCC strictly in situ, without a dermal component. Our patients were elderly. 2 of the lesions involved the head and neck area and 1 was on a finger. All tumors were strictly intraepidermal in the diagnostic biopsies, and had histomorphologic features and an immunohistochemical profile supporting the diagnosis of MCC. Excisional biopsies were performed in 2 cases and failed to reveal dermal involvement by MCC or other associated malignancies. Our findings raise the awareness that MCC strictly in situ does exist and it should be included in the differential diagnosis of Paget's or extramammary Paget's disease, pagetoid squamous cell carcinoma, melanoma and other neoplasms that typically show histologically pagetoid extension of neoplastic cells. Considering the limited number of cases reported to date, the diagnosis of isolated MCCIS should not warrant a change in management from the typical MCC. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Acute surgical abdomen due to phytobezoar-induced ileal obstruction.

PubMed

Salemis, Nikolaos S; Panagiotopoulos, Nikolaos; Sdoukos, Nikolaos; Niakas, Evangelos

2013-01-01

Phytobezoar-induced small bowel obstruction is an uncommon clinical entity accounting for 2-4.8% of all mechanical intestinal obstructions. In addition, presentation with features of acute surgical abdomen is extremely rare, accounting for only 1% of the patients. The aim of this report is to present a very rare case of a phytobezoar-induced small bowel obstruction in a male patient who presented with acute surgical abdomen. A correct preoperative diagnosis was made based on the patient's history and characteristic imaging features on the emergency computed tomography (CT) scan. A 55-year-old man with previous gastrectomy presented with typical manifestations of acute abdomen. CT scan demonstrated dilatated small bowel loops and an intraluminal ileal mass with a mottled appearance. At exploratory laparotomy, a phytobezoar was found impacted in the terminal ileum and was removed through an enterotomy. Phytobezoar should be considered in patients with previous gastric outlet surgery who present with bowel obstruction and features of acute surgical abdomen. The presence of a well-defined intraluminal mass with a mottled gas pattern on emergency CT scan is suggestive of an intestinal phytobezoar. Copyright © 2013 Elsevier Inc. All rights reserved.

Hand-Schüller-Christian Disease and Erdheim-Chester Disease: Coexistence and Discrepancy

PubMed Central

Yin, Jun; Zhang, Feng; Zhang, Huizhen; Shen, Li; Li, Qing; Hu, Shundong; Tian, Qinghua; Bao, Yuqian

2013-01-01

Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) share similar clinical features and mechanisms. In very rare circumstances, the two diseases coexist in the same patient. Here we report such a patient, who was first diagnosed with Hand-Schüller-Christian disease (HSC), a type of LCH. Several years later, the patient presented with severe exophthalmos and osteosclerosis on radiograph. New biopsy revealed ECD. We also analyze 54 cases of LCH and 6 cases of ECD diagnosed in our hospital, as well as their progression during a follow-up period of 8 years. In five cases of HSC (9.3% of LCH), a triad of central diabetes insipidus, hyperprolactinemia, and pituitary stalk thickening on magnetic resonance imaging (MRI) preceded the typical bone lesions by 4–9 years. In addition, LCH was featured as elevated plasma alkaline phosphatase (ALP), which was normal in ECD. Combined with a literature review, several features are summarized to differentiate ECD from HSC. In patients with diabetes insipidus, concomitant hyperprolactinemia and pituitary stalk thickening on MRI indicate a possible HSC. Additionally, if osteosclerosis is observed in a patient with LCH, the coexistence of ECD should be considered. PMID:23299772

Cranio-orbital primary intraosseous haemangioma

PubMed Central

Gupta, T; Rose, G E; Manisali, M; Minhas, P; Uddin, J M; Verity, D H

2013-01-01

Purpose Primary intraosseous haemangioma (IOH) is a rare benign neoplasm presenting in the fourth and fifth decades of life. The spine and skull are the most commonly involved, orbital involvement is extremely rare. We describe six patients with cranio-orbital IOH, the largest case series to date. Patients and methods Retrospective review of six patients with histologically confirmed primary IOH involving the orbit. Clinical characteristics, imaging features, approach to management, and histopathological findings are described. Results Five patients were male with a median age of 56. Pain and diplopia were the most common presenting features. A characteristic ‘honeycomb' pattern on CT imaging was demonstrated in three of the cases. Complete surgical excision was performed in all cases with presurgical embolisation carried out in one case. In all the cases, histological studies identified cavernous vascular spaces within the bony tissue. These channels were lined by single layer of cytologically normal endothelial cells. Discussion IOCH of the cranio-orbital region is rare; in the absence of typical imaging features, the differential diagnosis includes chondroma, chondrosarcoma, bony metastasis, and lymphoma. Surgical excision may be necessary to exclude more sinister pathology. Intraoperative haemorrhage can be severe and may be reduced by preoperative embolisation. PMID:23989119

Generalized petechial rashes in children during a parvovirus B19 outbreak.

PubMed

Edmonson, M Bruce; Riedesel, Erica L; Williams, Gary P; Demuri, Gregory P

2010-04-01

Human parvovirus B19 infection is associated not only with erythema infectiosum (fifth disease) but also, rarely, with purpuric or petechial rashes. Most reports of these atypical rashes describe sporadic cases with skin lesions that have distinctively focal distributions. During a community outbreak of fifth disease, we investigated a cluster of illnesses in children with generalized petechial rashes to determine whether parvovirus was the causative agent and, if so, to describe more fully the clinical spectrum of petechial rashes that are associated with this virus. Systematic evaluation was conducted by general pediatricians of children with petechial rashes for evidence of acute parvovirus infection. During the outbreak, acute parvovirus infection was confirmed in 13 (76%) of 17 children who were evaluated for petechial rash. Confirmed case patients typically had mild constitutional symptoms, and most (11 [85%] of 13) had fever. Petechiae were typically dense and widely distributed; sometimes accentuated in the distal extremities, axillae, or groin; and usually absent from the head/neck. Most case patients had leukopenia, and several had thrombocytopenia. Parvovirus immunoglobulin M was detected in 8 (73%) of 11 acute-phase serum specimens, and immunoglobulin G was detectable only in convalescent specimens. Parvovirus DNA was detected in all 7 tested serum specimens, including 2 acute-phase specimens that were immunoglobulin M-negative. All case patients had brief, uncomplicated illnesses, but 6 were briefly hospitalized and 1 underwent a bone marrow examination. Two case patients developed erythema infectiosum during convalescence. During an outbreak of fifth disease, parvovirus proved to be a common cause of petechial rash in children, and this rash was typically more generalized than described in case reports. Associated clinical features, hematologic abnormalities, and serologic test results are consistent with a viremia-associated illness that is distinct from and occasionally followed by erythema infectiosum.

The explanatory models of depression in low income countries: listening to women in India.

PubMed

Pereira, Bernadette; Andrew, Gracy; Pednekar, Sulochana; Pai, Reshma; Pelto, Pertti; Patel, Vikram

2007-09-01

Women, and persons facing social and economic disadvantage, are at greater risk for depressive disorders. Our objective was to describe the explanatory models of illness in depressed women, in particular, their idioms of distress, and their views of their social circumstances and how this related to their illness. We carried out a qualitative investigation nested in a population based cohort study of women's mental and reproductive health in Goa, India. We purposively sampled women who were ever-married and who had been found to be suffering from a depressive disorder on the basis of a structured diagnostic interview. In-depth interviews were carried out about six months apart exploring stressors in women's lives, a typical day in their recent lives, and their illness narratives (idioms of distress, causal models, impact of illness, help-seeking). 35 women consented to participate in the study, 28 completing both interviews. Women gave expression to their problems primarily through somatic complaints, typically a variety of body aches, autonomic symptoms, gynecological symptoms and sleep problems. There was frequent mention of overall "weakness" and tiredness. Economic difficulties and difficulties with interpersonal relationships (particularly related to marital relationships) were the most common causal models. However, women rarely considered biomedical concepts, for example, the notion that they may suffer from an illness or that their complaints were due to a biochemical disturbance in the brain. Despite the lack of a biomedical concept, most of the participants had sought medical help, typically for reproductive and somatic complaints. We recommend the use of somatic idioms as the defining clinical features, and a broader, psychosocial model for understanding the aetiology and conceptualization of the clinical syndrome of depression for public health interventions and mental health promotion in the Indian context.

Fetal phenotypes in otopalatodigital spectrum disorders.

PubMed

Naudion, S; Moutton, S; Coupry, I; Sole, G; Deforges, J; Guerineau, E; Hubert, C; Deves, S; Pilliod, J; Rooryck, C; Abel, C; Le Breton, F; Collardeau-Frachon, S; Cordier, M P; Delezoide, A L; Goldenberg, A; Loget, P; Melki, J; Odent, S; Patrier, S; Verloes, A; Viot, G; Blesson, S; Bessières, B; Lacombe, D; Arveiler, B; Goizet, C; Fergelot, P

2016-03-01

Otopalatodigital spectrum disorders (OPDSD) include OPD syndromes types 1 and type 2 (OPD1, OPD2), Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). These conditions are clinically characterized by variable skeletal dysplasia associated in males, with extra-skeletal features including brain malformations, cleft palate, cardiac anomalies, omphalocele and obstructive uropathy. Mutations in the FLNA gene have been reported in most FMD and OPD2 cases and in all instances of typical OPD1 and MNS. Here, we report a series of 10 fetuses and a neonatally deceased newborn displaying a multiple congenital anomalies syndrome suggestive of OPDSD and in whom we performed FLNA analysis. We found a global mutation rate of 44%. This series allows expanding the clinical and FLNA mutational spectrum in OPDSD. However, we emphasize difficulties to correctly discriminate OPDSD based on clinical criteria in fetuses due to the major overlap between these conditions. Molecular analyses may help pathologists to refine clinical diagnosis according to the type and the location of FLNA mutations. Discriminating the type of OPDSD is of importance in order to improve the genetic counseling to provide to families. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

The clinical maze of mitochondrial neurology

PubMed Central

DiMauro, Salvatore; Schon, Eric A.; Carelli, Valerio; Hirano, Michio

2014-01-01

Mitochondrial diseases involve the respiratory chain, which is under the dual control of nuclear and mitochondrial DNA (mtDNA). The complexity of mitochondrial genetics provides one explanation for the clinical heterogeneity of mitochondrial diseases, but our understanding of disease pathogenesis remains limited. Classification of Mendelian mitochondrial encephalomyopathies has been laborious, but whole-exome sequencing studies have revealed unexpected molecular aetiologies for both typical and atypical mitochondrial disease phenotypes. Mendelian mitochondrial defects can affect five components of mitochondrial biology: subunits of respiratory chain complexes (direct hits); mitochondrial assembly proteins; mtDNA translation; phospholipid composition of the inner mitochondrial membrane; or mitochondrial dynamics. A sixth category—defects of mtDNA maintenance—combines features of Mendelian and mitochondrial genetics. Genetic defects in mitochondrial dynamics are especially important in neurology as they cause optic atrophy, hereditary spastic paraplegia, and Charcot–Marie–Tooth disease. Therapy is inadequate and mostly palliative, but promising new avenues are being identified. Here, we review current knowledge on the genetics and pathogenesis of the six categories of mitochondrial disorders outlined above, focusing on their salient clinical manifestations and highlighting novel clinical entities. An outline of diagnostic clues for the various forms of mitochondrial disease, as well as potential therapeutic strategies, is also discussed. PMID:23835535

Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease.

PubMed

Márquez-Ávila, Candy Sue; Vizcaíno-Alarcón, Alfredo; García-Delgado, Constanza; Núñez-Martínez, Paulina María; Flores-Ramírez, Francisco; Reyes-de la Rosa, Alejandra del Pilar; Mendelsberg-Fishbein, Paola; Ibarra-Grajeda, Diana; Medina-Bravo, Patricia; Balderrábano-Saucedo, Norma; Esteva-Solsona, Salvador; Márquez-Quiróz, Luz del Carmen; Flores-Cuevas, Arturo; Sánchez-Urbina, Rocío; Morales-Jiménez, Ariadna Berenice; Garibay-Nieto, Nayely; Del Bosque-Garza, Jesús; Pietropaolo-Cienfuegos, Dino; Gutiérrez-Camacho, Claudia; García-Morales, Leticia; Morán-Barroso, Verónica Fabiola

2015-11-01

Velocardiofacial syndrome (VCFS) is the most common microdeletion syndrome with an incidence of 1:4000 live births. Its phenotype is highly variable with facial, velopharyngeal, cardiac, endocrine, immunologic and psychiatric abnormalities. It is caused by a microdeletion in chromosome 22q11.2. We present 7 years of experience evaluating patients with VCFS regarding their main clinical characteristics. The patients included were multidisciplinary evaluated and had a positive FISH analysis for del22q11.2. A total of 62 patients were assessed, a 34 female/28 male ratio was observed with ages ranging from 9 days to 16 years, all but one patient had typical facial features. A diagnosis of congenital heart disease was established in 97% of the patients; other clinical characteristics were identified with different percentages such as cleft palate, and hypocalcaemia. Three cases had a familial presentation. While the clinical findings of this study were in general terms in keeping with the literature, it is interesting the unexpectedly high percentage of congenital heart disease identified in Mexican children with VCFS that also was the main cause for clinical referral. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

A clinical approach to Lyme disease.

PubMed

Nadelman, R B; Wormser, G P

1990-05-01

Lyme disease (also known as Lyme borreliosis) is an emerging, newly described infectious disease with diverse clinical manifestations. The disease is caused by the spirochetal agent Borrelia burgdorferi, which is transmitted to humans by the bite of certain species of Ixodes ticks harboring the organism. The most readily identifiable clinical feature is the distinctive skin lesion, erythema migrans. If recently infected patients go untreated, approximately 15% will develop neurologic conditions (most commonly facial nerve palsy), 8% will develop myocarditis (typically with heart block), and 60% will develop migratory mono- or pauci-articular arthritis. Diagnosis depends on clinical suspicion, recognition of the characteristic signs and symptoms, and appropriate testing for antibody to B. burgdorferi. Serology for Lyme disease, although in need of better standardization, is most useful in diagnosing patients with manifestations of Lyme disease other than erythema migrans. All manifestations of Lyme disease are potentially treatable with either a beta-lactam antibiotic (for instance penicillin, amoxicillin, or ceftriaxone) or a tetracycline preparation. However, the optimal antimicrobial regimen, including choice of drug, drug dose, route of administration, and length of therapy, is unknown. Other important areas for future research include Ixodes biology and control, improved laboratory tests for diagnosis and for assessing response to therapy, and vaccine development.

Acute fascioliasis--clinical and epidemiological features of four patients in Chile.

PubMed

Fica, A; Dabanch, J; Farias, C; Castro, M; Jercic, M I; Weitzel, T

2012-01-01

Because of its infrequent and protean presentation and the lack of clinical data, the management of acute infections with the foodborne trematode Fasciola hepatica is challenging. We report four serologically confirmed cases that illustrate our experience with this parasitic infection in Chile. All patients were adults presenting with upper abdominal pain. Other symptoms included fever, nausea/vomiting, and cutaneous manifestations. In all cases, marked eosinophilia was present. All patients lived in an urban environment, and three reported the consumption of raw watercress. Computed tomography (CT) scans showed hypodense hepatic lesions, whereas ultrasonography findings were unremarkable. One patient suffered portal vein thrombosis, which might be a rare complication of acute fascioliasis. All patients were successfully treated with triclabendazole. Our case series demonstrates that patients with acute fascioliasis typically present with a combination of upper abdominal pain, marked eosinophilia, and hypodense hepatic lesions on CT imaging. Diagnosis should be confirmed by serological investigation. A history of recent consumption of raw watercress is an important finding, but in some patients the source of infection remains obscure. © 2011 The Authors. Clinical Microbiology and Infection © 2011 European Society of Clinical Microbiology and Infectious Diseases.

Disordered eating and food restrictions in children with PANDAS/PANS.

PubMed

Toufexis, Megan D; Hommer, Rebecca; Gerardi, Diana M; Grant, Paul; Rothschild, Leah; D'Souza, Precilla; Williams, Kyle; Leckman, James; Swedo, Susan E; Murphy, Tanya K

2015-02-01

Sudden onset clinically significant eating restrictions are a defining feature of the clinical presentation of some of the cases of pediatric acute-onset neuropsychiatric syndrome (PANS). Restrictions in food intake are typically fueled by contamination fears; fears of choking, vomiting, or swallowing; and/or sensory issues, such as texture, taste, or olfactory concerns. However, body image distortions may also be present. We investigate the clinical presentation of PANS disordered eating and compare it with that of other eating disorders. We describe 29 patients who met diagnostic criteria for PANS. Most also exhibited evidence that the symptoms might be sequelae of infections with Group A streptococcal bacteria (the pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections [PANDAS] subgroup of PANS). The clinical presentations are remarkable for a male predominance (2:1 M:F), young age of the affected children (mean=9 years; range 5-12 years), acuity of symptom onset, and comorbid neuropsychiatric symptoms. The food refusal associated with PANS is compared with symptoms listed for the new Diagnostic and Statistical Manual of Mental Disorders, 5th ed. (DSM-V) diagnosis of avoidant/restrictive food intake disorder (ARFID). Treatment implications are discussed, as well as directions for further research.

Is the Movement Assessment Battery for Children-2nd edition a reliable instrument to measure motor performance in 3 year old children?

PubMed

Smits-Engelsman, Bouwien C M; Niemeijer, Anuschka S; van Waelvelde, Hilde

2011-01-01

Formal testing of 3 year old children is a new feature in the revised version of the Movement Assessment Battery for Children (Movement ABC-2). Our study evaluated the reliability and explored the clinical applicability of the Movement ABC-2 Test in this young age group. A total of 50 typically children were given two trials of the test within a one to two week interval by two physical therapists: same assessor (n=28 children) and different assessors (n=22 children). Psychometric properties were evaluated by calculating internal consistency (Cronbach α), intra-class correlation (ICC), the standard error of measurement (SEM), the smallest detectable difference (SDD) and Kappa values for classification agreement. The results are promising for future implementation of the Movement ABC-2 in clinical practice. The children's performance was highly reproducible when tested by the same assessor (ICC .94) The SEM was 1.7 or 2.1 standard scores for 90% or 95% confidence intervals respectively, making the test sensitive enough to detect individual changes. If two different assessors tested the children the ICC was .76. In conclusion, the revised test can be applied to assess motor performance in typically developing 3-year old children. Future studies are needed to confirm if the same can be said for children with motor delays. Copyright © 2011 Elsevier Ltd. All rights reserved.

Clinical and Neuroradiological Spectrum of Metronidazole Induced Encephalopathy: Our Experience and the Review of Literature

PubMed Central

Panwar, Ajay; Pandit, Alak; Das, Susanta Kumar; Joshi, Bhushan

2016-01-01

Metronidazole is an antimicrobial agent mainly used in the treatment of several protozoal and anaerobic infections, additionally, is often used in hepatic encephalopathy and Crohn disease. Apart from peripheral neuropathy, metronidazole can also cause symptoms of central nervous system dysfunction like ataxic gait, dysarthria, seizures, and encephalopathy which may result from both short term and chronic use of this drug and is collectively termed as “metronidazole induced encephalopathy”(MIE). Neuroimaging forms the backbone in clinching the diagnosis of this uncommon entity, especially in cases where there is high index of suspicion of intoxication. Although typical sites of involvement include cerebellum, brain stem and corpus callosum, however, lesions of other sites have also been reported. Once diagnosed, resolution of findings on Magnetic Resonance Imaging (MRI) of the Brain along with clinical improvement remains the mainstay of monitoring. Here we review the key clinical features and MRI findings of MIE as reported in medical literature. We also analyze implication of use of this drug in special situations like hepatic encephalopathy and brain abscess and discuss our experience regarding this entity. PMID:27504340

Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1

PubMed Central

Hedera, P; Toriello, H; Petty, E

2002-01-01

Methods: Six affected family members underwent a complete medical genetics physical examination and two affected subjects had skeletal survey. All available medical records were reviewed. Linkage analysis using the markers spanning the TCOF1 locus was performed. One typically affected family member had a high resolution karyotype. Results: Affected subjects had significant craniofacial abnormalities without any significant acral changes and thus had a phenotype consistent with a MFD variant. Distinctive features included hypoplasia of the zygomatic complex, micrognathia with malocclusion, auricular abnormalities with conductive hearing loss, and ptosis. Significantly negative two point lod scores were obtained for markers spanning the TCOF1 locus, excluding the possibility that the disease in our kindred is allelic with TCS. High resolution karyotype was normal. Conclusions: We report a kindred with a novel type of MFD that is not linked to the TCOF1 locus and is also clinically distinct from other types of AD MFD. Identification of additional families will facilitate identification of the gene causing this type of AD MFD and further characterisation of the clinical phenotype. PMID:12114479

Traditional used Plants against Cognitive Decline and Alzheimer Disease

PubMed Central

Eckert, Gunter Peter

2010-01-01

Alzheimer's disease (AD) is a neurodegenerative disorder characterized clinically by progressive memory deficits, impaired cognitive function, and altered and inappropriate behavior. Aging represents the most important risk factor for AD and the global trend in the phenomenon of population aging has dramatic consequences for public health, healthcare financing, and delivery systems in the word and, especially in developing countries. Mounting evidence obtained in in vitro and in vivo studies, suggests that various traditionally used plants in Asia, India, and Europe significantly affect key metabolic alterations culminating in AD-typical neurodegeneration. The present article aims to bring the reader up-to-date on the most recent studies and advances describing the direct and indirect activities of traditional used plants and its constituents possibly relieving features of AD. A variety of traditional used plants and its extracts exerted activities on AD related drug targets including AChE activity, antioxidative activity, modulation of Aβ-producing secretase activities, Aβ-degradation, heavy metal chelating, induction of neurotrophic factors, and cell death mechanisms. Although pre-clinical investigations identified promising drug candidates for AD, clinical evidences are still pending. PMID:21833177

Clinical Advances of Hypoxia-Activated Prodrugs in Combination With Radiation Therapy.

PubMed

Mistry, Ishna N; Thomas, Matthew; Calder, Ewen D D; Conway, Stuart J; Hammond, Ester M

2017-08-01

With the increasing incidence of cancer worldwide, the need for specific, effective therapies is ever more urgent. One example of targeted cancer therapeutics is hypoxia-activated prodrugs (HAPs), also known as bioreductive prodrugs. These prodrugs are inactive in cells with normal oxygen levels but in hypoxic cells (with low oxygen levels) undergo chemical reduction to the active compound. Hypoxia is a common feature of solid tumors and is associated with a more aggressive phenotype and resistance to all modes of therapy. Therefore, the combination of radiation therapy and bioreductive drugs presents an attractive opportunity for synergistic effects, because the HAP targets the radiation-resistant hypoxic cells. Hypoxia-activated prodrugs have typically been precursors of DNA-damaging agents, but a new generation of molecularly targeted HAPs is emerging. By targeting proteins associated with tumorigenesis and survival, these compounds may result in greater selectivity over healthy tissue. We review the clinical progress of HAPs as adjuncts to radiation therapy and conclude that the use of HAPs alongside radiation is vastly underexplored at the clinical level. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

Chronic Rhinosinusitis with Nasal Polyps

PubMed Central

Stevens, Whitney W.; Schleimer, Robert P.; Kern, Robert C.

2016-01-01

Chronic rhinosinusitis with nasal polyps (CRSwNP) is an important clinical entity diagnosed by the presence of both subjective and objective evidence of chronic sinonasal inflammation. Symptoms include anterior or posterior rhinorrhea, nasal congestion, hyposmia and/or facial pressure or pain that last for greater than 12 weeks duration. Nasal polyps are inflammatory lesions that project into the nasal airway, are typically bilateral, and originate from the ethmoid sinus. Males are more likely to be affected than females but no specific genetic or environmental factors have been strongly linked to the development of this disorder to date. CRSwNP is frequently associated with asthma and allergic rhinitis but the cellular and molecular mechanisms that contribute to the clinical symptoms are not fully understood. Defects in the sinonasal epithelial cell barrier, increased exposure to pathogenic and colonized bacteria, and dysregulation of the host immune system are all thought to play prominent roles in disease pathogenesis. Additional studies are needed to further explore the clinical and pathophysiological features of CRSwNP so that biomarkers can be identified and novel advances can be made to improve the treatment and management of this disease. PMID:27393770

Foreign Body Emboli following Cerebrovascular Interventions: Clinical, Radiographic, and Histopathologic Features.

PubMed

Shapiro, M; Ollenschleger, M D; Baccin, C; Becske, T; Spiegel, G R; Wang, Y; Song, X; Raz, E; Zumofen, D; Potts, M B; Nelson, P K

2015-11-01

Foreign material emboli following cerebral, cardiac, and peripheral catheterizations have been reported since the mid-1990s. Catheter coatings have been frequently implicated. The most recent surge of interest in this phenomenon within the neurointerventional community is associated with procedures using flow-diversion devices for the treatment of cerebral aneurysms. Following coil-supported Pipeline embolization in 4 cases and stent-supported coiling in 1, 5 patients developed multiple subcentimeter enhancing lesions, usually with surrounding edema and variable magnetic susceptibility in the vascular territories of the treated aneurysms. Conventional angiography findings were unrevealing. Laboratory work-up showed mild CSF protein elevation with no leukocytosis. Brain biopsy in 2 cases revealed granulomatous angiitis encasing foreign material, identical in stain appearance to a polyvinylpyrrolidone catheter coating. Corticosteroid administration typically produced clinical improvement. A heterogeneous radiographic and clinical course was noted, with rise and fall in the number of enhancing lesions in 2 patients and persistence in others. The etiology may be related to widespread adoption of increasingly sophisticated catheterization techniques. © 2015 by American Journal of Neuroradiology.