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Desplantes Claire - - 2014
BackgroundThe purpose of this study was to describe the natural history of severe congenital neutropenia (SCN) in 14 patients with G6PC3 mutations and enrolled in the French SCN registry.MethodsAmong 605 patients included in the French SCN registry, we identified 8 pedigrees that included 14 patients with autosomal recessive G6PC3 mutations.ResultsMedian ...
Rojnueangnit Kitiwan - - 2014
Objectives :  Cleft lip and/or cleft palate (CL/P) occurs either as an isolated anomaly or as one manifestation of genetic syndromes. Chromosomal abnormalities from karyotype analysis are commonly seen in cases of nonisolated CL/P. This study was designed to evaluate the usefulness of clinical array comparative genomic hybridization (aCGH) testing ...
Hosokawa Koji - - 2014
IntroductionSeveral studies have reported the presence of electroencephalography (EEG) abnormalities or altered evoked potentials (EPs) during sepsis. However, the role of these tests in the diagnosis and prognostic assessment of sepsis-associated encephalopathy remains unclear.MethodsWe performed a systematic search for studies evaluating EEG and/or EPs in adult (¿18 years) patients with sepsis-associated ...
Ito Yasushi Y Department of Pediatrics, Tokyo Women's Medical University, - - 2014
We conducted a nationwide survey of glucose transporter type-1 deficiency syndrome (GLUT-1DS) in Japan in order to clarify its incidence as well as clinical and laboratory information. A questionnaire to survey the number of genetically and clinically confirmed cases of GLUT-1DS was sent to 1018 board-certified pediatric neurologists, which resulted ...
Parkash R R QEII Health Sciences Center, Halifax, Nova Scotia. Electronic address: - - 2014
Cable externalization and insulation abrasion are known to occur with the St. Jude Riata leads under advisory. The distribution of these abnormalities and how they relate to clinical presentation have not been well described. Using the analysis of returned Riata products in Canada, we sought to determine the relationship between ...
Fernández-Torre José L JL Department of Clinical Neurophysiology, Marqués de Valdecilla University Hospital, Santander, Cantabria, Department of Physiology and Pharmacology, University of Cantabria (UNICAN), Santander, Cantabria, Biomedical Research Institute (IDIVAL), - - 2014
Background. Subclinical seizures are ictal electrographic discharges lacking signs of clinical seizures, behavioural alteration or subjective symptoms. The diagnosis and detection of this type of non-convulsive seizures remain challenging, and information is scarce regarding this electroclinical picture in subjects with gliomas. The aim of this report is to describe two ...
Lázaro Luisa L Department of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clínic Universitari, Barcelona, Spain; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Psychiatry and Clinical Psychobiology, University of Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en red de Salud Mental (CIBERSAM), - - 2014
The aims of this study were to determine white matter (WM) microstructure abnormalities in obsessive-compulsive disorder (OCD) using diffusion tensor imaging, and to investigate whether these abnormalities differ according to OCD symptom dimensions. Sixty-three child and adolescent OCD patients (11-18 years old) and 37 healthy subjects matched for gender, age, ...
Tews W W Zentrum für Frauen- und Kindermedizin, Universität Leipzig, - - 2014
Background: After a first afebrile seizure, EEG in addition to cMRI is recommended for pediatric patients. Once indications requiring immediate treatment are excluded, it is of interest to determine if the results provide a prognostic tool for seizure relapses. Methods: Patients aged between 1 month and 18 years who had ...
Harada Atsuko A Department of Pediatric Neurosurgery, Takatsuki General Hospital, 1-3-13 Kosobecho, Takatsuki City, Osaka, 569-1192, - - 2014
Megalencephaly capillary malformation (MCAP) is a syndrome involving brain overgrowth, characterized by megalencephaly, capillary malformations, asymmetric growth, polymicrogyria, polydactyly, and syndactyly. Cerebellar tonsillar herniation (CTH) and ventriculomegaly are also observed in over half the patients with this syndrome. Early sudden death has been reported in MCAP, but its causes and ...
Montagnese Sara S Sara Montagnese, Esmeralda Balistreri, Sami Schiff, Michele De Rui, Paolo Angeli, Giancarlo Bombonato, Massimo Bolognesi, David Sacerdoti, Angelo Gatta, Carlo Merkel, Piero Amodio, Department of Medicine, University of Padova, 35128 Padova, - - 2014
To investigate the agreement and prognostic value of different measures of covert hepatic encephalopathy (CHE). One-hundred-and-thirty-two cirrhotic outpatients underwent electroencephalography (EEG), paper-and-pencil psychometry (PHES) and critical flicker frequency, scored on the original/modified (CFFo/CFFm) thresholds. Eighty-four patients underwent Doppler-ultrasound to diagnose/exclude portal-systemic shunt. Seventy-nine were followed-up for 11 ± 7 mo ...
George Gautam - - 2014
Human telomere disease consists of a wide spectrum of disorders, including pulmonary, hepatic and bone marrow abnormalities. The extent of bone marrow and liver abnormalities in patients with interstitial lung disease (ILD) and short telomeres is unknown. The lung transplant clinic established a prospective protocol to identify short telomeres in ...
Becker S S Department of Hepatology and Gastroenterology, Aarhus University Hospital, Aarhus C, - - 2014
The refeeding syndrome is a potentially fatal condition that affects multiple organ systems. It is the consequence of fluid and electrolyte shifts that may occur in a malnourished patient following the introduction of nutrition therapy. The most prominent characteristic is hypophosphataemia. Although hyperammonaemia is usually seen in decompensated liver cirrhosis ...
Kim Yeo Jin YJ Department of Neurology, Sungkyunkwan University School of Medicine, Seoul, - - 2014
Apolipoprotein E4 (APOE4) is a genetic risk factor for developing Alzheimer's disease (AD). Once AD manifests clinically, however, the effects of APOE4 are less clear. Therefore, we investigated the longitudinal effects of APOE4 on topographical changes in AD patient brain atrophy. We prospectively recruited 35 patients with AD (19 APOE4 ...
Lee Hyang Woon HW From the Department of Neurology (H.W.L.), Ewha Womans University School of Medicine and Ewha Medical Research Institute, Seoul, Korea; and Departments of Neurology (H.W.L., P.F., H.B.), Diagnostic Radiology (H.W.L., J.A., X.P., F.T., M.N., R.T.C.), Biomedical Engineering (X.P., D.S., R.T.C.), Neurosurgery (H.B., D.D.S., R.T.C.), and Neurobiology (H.B.), Yale University School of Medicine, New Haven, CT. - - 2014
The purpose of this study was to investigate functional connectivity (FC) changes in epileptogenic networks in intractable partial epilepsy obtained from resting-state fMRI by using intrinsic connectivity contrast (ICC), a voxel-based network measure of degree that reflects the number of connections to each voxel. We measured differences between intrahemispheric- and ...
Vulto-van Silfhout Anneke T AT Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The - - 2014
Variants in CUL4B are a known cause of syndromic X-linked intellectual disability. Here, we describe an additional 25 patients from eleven families with variants in CUL4B. We identified nine different novel variants in these families and confirmed the pathogenicity of all non-truncating variants. Neuroimaging data, available for 15 patients, showed ...
Sara Casciato C 1Epilepsy Unit, Department of Neurology and Psychiatry, "Sapienza" University, - - 2014
Abstract Purpose. Celiac disease (CD) is an immuno-mediated small bowel disease characterized by chronic inflammation due to a permanent intolerance to gliadin. Several neurological complications have been described, including epilepsy, whose evolution might often improve by adopting gluten-free diet. We studied a population of adult patients affected by posterior drug-resistant ...
Campos Carla Marques Rondon CM Universidade Federal de Mato Grosso, Cuiabá, MT, - - 2014
Background: Congenital heart defects (CHD) are the most prevalent group of structural abnormalities at birth and one of the main causes of infant morbidity and mortality. Studies have shown a contribution of the copy number variation in the genesis of cardiac malformations. Objectives: Investigate gene copy number variation (CNV) in ...
Chou Po-Ching PC Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, - - 2014
Neonatal seizures caused by hypocalcemia may be associated with cardiopulmonary dysfunction and may require specific management other than calcium supplementation. Severe dilated cardiomyopathy is an extremely rare complication in neonatal hypocalcemia and often results in high morbidity and mortality. We report here a 14-day-old neonate presenting with a gradually increasing ...
Sharma Atul A Department of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, - - 2014
Data on frequency of fecal evacuation disorder (FED) among patients with solitary rectal ulcer syndrome (SRUS), hitherto an enigmatic condition, are scanty. Moreover, most such studies had limitations due to small sample size and lack of inclusion of healthy controls (HC). Forty patients with SRUS underwent symptom assessments, sigmoidoscopy, anorectal ...
Nicolas Aurélie A Université de Rennes 1, Avenue du Professeur Léon Bernard, 35043 Rennes, France CNRS UMR 6290, Institut de Génétique et Développement de Rennes, 35043 Rennes, - - 2014
In-frame exon deletions of the DMD gene produce internally truncated proteins that typically lead to Becker muscular dystrophy (BMD), a milder allelic disorder of Duchenne muscular dystrophy (DMD). We hypothesized that differences in the structure of mutant dystrophin may be responsible for the clinical heterogeneity observed in Becker patients and ...
Lee Hsiu-Fen HF Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan; School of Medicine, Chung Shan Medical University, Taichung, - - 2014
The aim of this study was to characterize the awake EEG features of patients with SCN1A-positive Dravet syndrome. Between January 2002 and December 2012, clinical data of 37 SCN1A-positive Dravet syndrome patients were collected. The first interictal awake EEG features, hot water bath test induced ictal seizure patterns and the ...
Rowczenio Dorota D Department of Medicine, National Amyloidosis Centre, Centre for Amyloidosis and Acute Phase Proteins, Hampstead Campus, Royal Free Campus, UCL Medical School , London , - - 2014
Abstract The clinical features of hereditary gelsolin (AGel) amyloidosis include corneal lattice dystrophy, distal sensorimotor, cranial neuropathy and cutis laxa. To date, four mutations of the gelsolin (GSN) gene encoding the following variants have been identified as the cause of this malady; p.D214N, p.D214Y, p.G194R and p.N211K (this nomenclature includes ...
Thénint Marie-Aude MA Department of Interventional Neuroradiology, Centre Hospitalier Universitaire de Caen, Caen. Electronic address: - - 2014
A new endovascular treatment consisting of stent-assisted coil implantation is described for jugular bulb abnormalities causing symptomatic vestibular aqueduct dehiscence. Three patients presenting with vertigo associated with pulsatile tinnitus or hearing loss were treated. This technique cured the vertigo and pulsatile tinnitus in all patients and preserved normal cerebral venous ...
Eidenschink Brodersen Lisa L HematoLogics, Inc., Seattle, - - 2014
Introduction: While multidimensional flow cytometry (MDF) has great utility in diagnostic work-ups of patients with suspected myelodysplastic syndromes (MDS), only the myeloid lineage has demonstrated reproducible abnormalities from multiple laboratories. With the effects of ammonium chloride (NH4 Cl) lysis on erythroid progenitors previously described, we applied this protocol to a ...
Ogura Kaeko K Department of Rehabilitation for Brain Functions, Developmental Disability Study Section, Research Institute of National Rehabilitation Center for Persons with Disabilities, Tokorozawa, Japan; Department of Behavioral Neurology and Cognitive Neuroscience, Tohoku University Graduate School of Medicine, Sendai, - - 2014
Patients with 2q37 deletions manifest brachydactyly mental retardation syndrome (BDMR). Recent advances in human molecular research have revealed that alterations in the histone deacetylase 4 gene (HDAC4) are responsible for the clinical manifestations of BDMR. Here, we report two male patients with 2q37.3 deletions. One of the patients showed a ...
Gitiaux Cyril C Service de Neurologie Pédiatrique et Maladies Métaboliques, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Service d'explorations Fonctionnelles, Laboratoire de Neurophysiologie Clinique, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address: - - 2014
Cockayne syndrome (CS) is characterized by postnatal growth failure and progressive multi-organ dysfunctions. CSA and CSB gene mutations account for the majority of cases and three degrees of severity are delineated. A peripheral neuropathy is known to be associated with CS but the type, severity and correlation of the nerve ...
Lambertus Stanley S Department of Ophthalmology, Radboud university medical center, Nijmegen, The - - 2014
To describe the phenotype and genotype of patients with early-onset Stargardt disease. Retrospective cohort study. Fifty-one Stargardt patients with age at onset ≤10 years. We reviewed patient medical records for age at onset, medical history, initial symptoms, best-corrected visual acuity (BCVA), ophthalmoscopy, fundus photography, fundus autofluorescence (FAF), fluorescein angiography (FA), ...
Patidar Yashwant Y Department of Radiodiagnosis, - - 2014
Pulmonary gas exchange abnormalities and refractory hypoxemia cause myriad difficulties in patients with chronic liver disease. In addition to intrinsic cardiopulmonary diseases and hepatopulmonary syndrome, some unusual pathophysiological mechanisms in patients with portosystemic collaterals might contribute to hypoxemia. We report the clinical presentation of an unusual portosystemic anatomic shunt that ...
Al-Rawas Sami F SF Department of Clinical Physiology, Sultan Qaboos University - - 2014
The aim of this study was to establish the relationship between background amplitude and interictal abnormalities in routine electroencephalography (EEG). This retrospective audit was conducted between July 2006 and December 2009 at the Department of Clinical Physiology at Sultan Qaboos University Hospital (SQUH) in Muscat, Oman. A total of 1,718 ...
Fürbass F F Department Safety & Security, AIT Austrian Institute of Technology GmbH, Vienna, Austria. Electronic address: - - 2014
A method for automatic detection of epileptic seizures in long-term scalp-EEG recordings called EpiScan will be presented. EpiScan is used as alarm device to notify medical staff of epilepsy monitoring units (EMUs) in case of a seizure. A prospective multi-center study was performed in three EMUs including 205 patients. A ...
Bombery Melissa M From the Department of Pathology, University of Michigan Health System, Ann - - 2014
Transient abnormal myelopoiesis occurs exclusively in patients with Down syndrome (constitutional trisomy 21), manifests in the neonatal period, and is characterized by circulating megakaryoblasts with varied degrees of multisystem organ involvement. In most cases, this process resolves spontaneously by 3 to 6 months of age, but for some, the disease ...
Moriwaki Koichi K Department of Pediatrics, Saitama Medical Center, Saitama Medical University, Saitama, - - 2014
We analyzed the cytogenetics and clinical features of pediatric myelodysplastic syndrome (MDS) in Japan. Data on patients (<16 years) diagnosed with MDS from 1990 to 2000 were retrospectively collected from pediatric hematologists in 234 institutions. Chromosome analysis was successfully performed in 255 of 277 MDS patients. The numbers of patients with ...
Passeri Elena - - 2014
Physiological functioning of the testes is important for cardiac health besides for virilisation, physical strength, behavior and reproduction; moreover, hypogonadism has been demonstrated as a significant risk marker of increased all-cause and cardiovascular mortality.Cases presentation: We reported two cases of long-standing hypogonadotropic hypogonadism presenting with wasting, bradycardia and heart failure. ...
Pasqualim Gabriela G Post-Graduate Program on Genetics and Molecular Biology, UFRGS, Porto Alegre, RS, Brazil; Gene Therapy Center, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, - - 2014
Mucopolysaccharidosis type I is a rare autosomal recessive disorder caused by deficiency ofα-L-iduronidase (IDUA) which leads to a wide spectrum of clinical severity. Here we describe the case of four male patients who present the previously undescribed p.L18P mutation.Patient 1 (p.L18P/p.L18P) presents, despite multiple joint contractures, an attenuated phenotype. Patient ...
Dworschak Gabriel C GC Institute of Human Genetics, University of Bonn, Bonn, - - 2014
Background: Anorectal malformations (ARM) have a prevalence of around 1 in 2500 live births. In around 50% of patients, the malformation is isolated, while in the remainder it arises within the context of complex genetic abnormalities or a defined genetic syndrome. Recent studies have implicated rare copy number variations (CNVs) ...
Rodrigues Marcelo Palmeira MP School of Medicine, Universidade de Brasília (UnB), Brasília, - - 2014
Different functional respiratory alterations have been described in acromegaly, but their relationship with pulmonary tissue abnormalities is unknown. The objective of this study was to observe possible changes in lung structure and explain their relationship with gas exchange abnormalities. Cross-sectional analytical study with a control group, conducted at a university ...
Shin Hae-Won HW Department of Neurology, Chung-Ang University College of Medicine, Seoul, - - 2014
Drug-induced parkinsonism (DIP) is the common cause of parkinsonism. It is difficult to make a differentiation between DIP and Parkinson's disease (PD) because there are no notable differences in the clinical characteristics between the two entities. In this study, we examined the relationship between the characteristics of [(18)F] fluorinated-N-3-fluoropropyl-2-β-carboxymethoxy-3-β-(4-iodophenyl)nortropane (FP-CIT) ...
Yahalom Gilad G Parkinson Disease and Movement Disorders Clinic, Chaim Sheba Medical Center, Tel-Hashomer, Ramat Gan, 52621, Israel, - - 2014
Costeff syndrome (CS) is a rare autosomal-recessive neurological disorder, which is known almost exclusively in patients of Iraqi Jewish descent, manifesting in childhood with optic atrophy, ataxia, chorea and spastic paraparesis. Our aim was to study the clinical spectrum of CS and natural history using a cross-sectional study design. Consecutive patients ...
Kato Kazuhiro K From the Departments of Epileptology (K.K., K.J., H.I., Y.K., N.N.), Neurosurgery (M.I.), and Neurology (K.K., M.A.), Tohoku University Graduate School of Medicine, Sendai, - - 2014
To clarify whether the presence and timing of peri-ictal heart rate (HR) change is a seizure lateralizing sign in patients with mesial temporal lobe epilepsy (mTLE). Long-term video EEGs were retrospectively reviewed in 21 patients, 7 men and 14 women aged 13 to 67 years, diagnosed as mTLE with MRI ...
Walter Maggie C MC From the Friedrich-Baur Institute (M.C.W.), Department of Neurology, Ludwig-Maximilians University of Munich, Germany; Gottfried von Preyer'sches Kinderspital (G.B.), Vienna; Ambulatorium Wiental (U.Z.), Center for Developmental Neurology, Vienna; Department of Ophthalmology (A.M.-E., E.M.), University of Vienna, Austria; Harry Perkins Institute for Medical Research and Centre for Medical Research (L.K.), The University of Western Australia, Perth; Institute of Genetic Medicine (H.L.), Newcastle University, Newcastle-upon-Tyne, UK; and Department of Neuropaediatrics (W.M.-F.), Dr. von Hauner'sches Kinderspital, University of Munich, Germany. - - 2014
We describe the 10-year follow-up in a cohort of 16 patients with genetically confirmed congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) syndrome, providing new insights in the clinical course of the disease. We performed a detailed clinical and paraclinical characterization and 10-year follow-up study in 16 patients with molecularly defined ...
Chen Ching-Jen CJ Department of Neurological Surgery, University of Virginia Health System, Charlottesville, - - 2014
Object Seizures are a common presentation of cerebral arteriovenous malformations (AVMs). The authors evaluated the efficacy of stereotactic radiosurgery (SRS) for the management of seizures associated with AVMs and identified factors influencing seizure outcomes following SRS for AVMs. Methods A systematic literature review was performed using PubMed. Studies selected for ...
van Ochten John M JM Department of Radiology, Albert Schweitzer Hospital Dordrecht, the - - 2014
Persistent complaints are very common after a lateral ankle sprain. To investigate possible associations between structural abnormalities on radiography and MRI, and persistent complaints after a lateral ankle sprain. Observational case control study on primary care patients in general practice. Patients were selected who had visited their GP with an ...
Moro Adriana A Setor de Neurologia, Departamento de Medicina Interna, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, - - 2014
Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the predominantly affected motor systems. Method The series comprises 167 SCA3 patients belonging to 68 pedigrees, studied from 1989-2013. ...
Csabi Gyorgyi G Department of Pediatrics, University of Pécs, Faculty of Medicine, Pécs, Hungary. - - 2014
The prevalence of minor physical anomalies (prenatal errors of morphogenesis) was evaluated in patients with idiopathic epilepsy to get indirect data on the possible role of aberrant neurodevelopment in the etiology of the disease. Connecting to current opinions on a possible role of aberrant neurodevelopment in idiopathic epilepsy it seems ...
Redfern R E RE Research Department,Toledo - - 2014
Objective: To determine the incidence of high jugular bulb in a group of patients with definite Ménière's disease, and to investigate whether the position or size of the jugular bulb is significantly different in the affected ear than in the unaffected ear. Methods: Retrospective review of patient charts, audiograms, and ...
Liang Jackson J JJ Department of Internal Medicine, Mayo Clinic, Rochester, - - 2014
Endomyocardial biopsy (EMB) is valuable in determining the underlying etiology of a cardiomyopathy. The sensitivity, however, for focal disorders, such as lymphocytic myocarditis and cardiac sarcoidosis (CS), is low. The sensitivity of routine fluoroscopically guided EMB is low. Abnormal intracardiac electrograms are seen at sites of myocardial disease. However, the exact value ...
Watanabe-Okada Emiko E Department of Dermatology, Keio University School of Medicine, Tokyo; Division of Dermatology, Kawasaki Municipal Hospital, Kawasaki, - - 2014
Histopathological comparison between clinically affected and intact regions in alopecia patients has been considered to facilitate better understanding of the pathophysiology of ongoing disease. Theoretically, adjacent intact regions should provide ideal controls as they should share close histological characteristics, however, to what extent clinically non-affected neighboring regions maintain their pathological ...
Azzam Raed R Vanderbilt University Medical Center, Nashville, - - 2014
Wicket spikes (WS) are a benign EEG variant classically defined to be bilateral independent temporal in localization. We observed that the majority of WS are exclusively unilateral temporal. Our aim is to identify the laterality and clinical significance of the WS. Epilepsy monitoring unit reports of adult patients were searched ...
Shi Qi - - 2014
Here we reported a Chinese case of Creutzfeldt-Jacob disease (CJD) with a rare mutation in the prion protein gene (PRNP) leading to an exchange of amino acid from valine (V) to isoleucine (I) at codon 180 (V180I). The 72 year-old Chinese women started with gradual memory loss. On admission, she ...
Shi Qi Q a State Key Laboratory for Infectious Disease Prevention and Control , Collaborative Innovation Center Diagnosis and Treatment of Infectious Diseases (Zhejiang University, Hangzhou) , National Institute for Viral Disease Control and Prevention , Chinese Center for Disease Control and Prevention , Beijing , - - 2014
Abstract Here we reported a Chinese case of Creutzfeldt-Jacob disease (CJD) with a rare mutation in the prion protein gene (PRNP) leading to an exchange of amino acid from valine (V) to isoleucine (I) at codon 180 (V180I). The 72 year-old Chinese women started with gradual memory loss. On admission, ...
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