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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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
Kim Sang-Wook SW Institute of Health Sciences, Gyeongsang National University, Jinju, Korea. ; Department of Otorhinolaryngology, Gyeongsang National University Hospital, Jinju, - - 2014
Patients with smell loss after craniocerebral trauma are known to have some brain abnormalities, but there was no study to analyze the findings according to the time interval between injury and evaluation. We aimed to identify whether the time interval may influence on the findings in the brain. Medical records ...
Lin Lung-Chang LC Department of Pediatrics, School of Medicine, College of Medicine, Kaohsiung Medical University, Departments of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, No. 100, Shih-Chuan 1st Rd., Kaohsiung City 80708, - - 2014
Refractory epilepsy often has deleterious effects on an individual's health and quality of life. Early identification of patients whose seizures are refractory to antiepileptic drugs is important in considering the use of alternative treatments. Although idiopathic epilepsy is regarded as having a significantly lower risk factor of developing refractory epilepsy, ...
Chandran Vijay V Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, - - 2014
Spinocerebellar ataxias (SCA) are a clinically heterogeneous group of disorders that are characterized by ataxia and an autosomal dominant pattern of inheritance. The aim of our study was to describe the findings of evoked potentials (EPs) among genetically proven SCA types 1, 2, and 3 and to additionally evaluate if ...
Sinawat Suthasinee - - 2014
To review the clinical manifestations and neuroimaging features of patients with Sturge-Weber syndrome (SWS) treated at Srinagarind Hospital over a 12-year period. A retrospective study of sixteen patients with SWS (9 males and 7 females) was conducted. The medical records, photographs, and neuroimaging studies were reviewed All patients had port-wine ...
Ying Zhong Z Department of Neurology, Cleveland Epilepsy Center, Cleveland Clinic Cleveland, - - 2014
To investigate growth-associated protein 43 (GAP-43), a marker for axonal growth and synaptic plasticity, as potential substrate for progressive epilepsy and potential predictor of postsurgical seizure outcome in patients with focal cortical dysplasia (FCD). GAP-43 immunohistochemistry was performed on cortical specimens from 21 patients with FCD: 12 with FCD type ...
Tan Rachel H RH Neuroscience Research Australia, Randwick, New South Wales, Australia; School of Medical Sciences, University of New South Wales, Randwick, New South Wales, - - 2014
Amyotrophic lateral sclerosis (ALS) and behavioural variant frontotemporal dementia (bvFTD) are multisystem neurodegenerative disorders that manifest overlapping cognitive, neuropsychiatric and motor features. The cerebellum has long been known to be crucial for intact motor function although emerging evidence over the past decade has attributed cognitive and neuropsychiatric processes to this ...
Jorgez Carolina J CJ Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas, United States of America; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, United States of - - 2014
Normal development of the genitourinary (GU) tract is a complex process that frequently goes awry. In male children the most frequent congenital GU anomalies are cryptorchidism (1-4%), hypospadias (1%) and micropenis (0.35%). Bladder exstrophy and epispadias complex (BEEC) (1∶47000) occurs less frequently but significantly impacts patients' lives. Array comparative genomic ...
Schanilec Paula P From the Vanderbilt Eye Institute, Nashville, Tennessee. IRB #121857 "Retrospective Study of Aniridia." - - 2014
Aniridia is linked to a mutation of the PAX6 gene, which results in panocular anomalies. A set of common secondary pathologies associated with aniridia is recognized. Much of the literature on aniridia focuses on genetic factors of the disorder and associated abnormalities, both ocular and nonocular. The field of research ...
Kikuchi Yuka Sugawara YS Department of Neuropsychiatry, Akita University Graduate School of Medicine, Hondo, Akita, - - 2014
We describe electroencephalography (EEG) abnormalities and seizures associated with clozapine treatment in Japanese patients with schizophrenia and retrospectively compare EEG results and total Positive and Negative Syndrome Scale (PANSS [T]) scores before and after treatment. Twenty-six patients with treatment-resistant schizophrenia were enrolled in this study. EEG measurements were obtained prior ...
Kakisaka Yosuke Y Department of Epileptology, Tohoku University School of Medicine, - - 2014
A 57-year-old right-handed woman with a history of left frontal lobe stroke had experienced episodes of language-expression difficulty followed by paraphasia lasting for approximately 30 seconds two years earlier. She was diagnosed with left frontal lobe epilepsy, and a lamotrigine regimen was initiated. This treatment had to be stopped five ...
Kerr Wesley T WT Laboratory of Integrative Neuroimaging Technology University of California, Los Angeles Los Angeles, - - 2013
The application of machine learning to epilepsy can be used both to develop clinically useful computer-aided diagnostic tools, and to reveal pathologically relevant insights into the disease. Such studies most frequently use neurologically normal patients as the control group to maximize the pathologic insight yielded from the model. This practice ...
Lee Ah Young AY Department of Physical Medicine and Rehabilitation, College of Medicine, Yeungnam University, Namku, Daegu 705-717, Republic of - - 2013
We report a patient with severe ataxia due to Dandy-Walker malformation, who showed functional recovery over 10 months corresponding to a change in a cerebellar peduncle lesion. A 20-month-old female patient who was diagnosed with Dandy-Walker syndrome and six age- and sex-matched healthy control subjects were enrolled. The superior cerebellar ...
Nardone Raffaele - - 2012
Central cholinergic dysfunction has been reported in patients with Parkinson's disease (PD) and hallucinations by evaluating short latency afferent inhibition (SAI), a transcranial magnetic stimulation protocol which gives the possibility to test an inhibitory cholinergic circuit in the human brain. REM sleep behavior disorder (RBD) was also found to be ...
Shiraishi Koji - - 2012
Introduction.  The incidence of Peyronie's disease (PD) in the general population is believed to be as high as 20%. However, most of the data concerning the prevalence of PD have been obtained from Caucasian populations. Aim.  The aim of this study was to examine the prevalence of PD in Asia ...
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