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Millón M B Bistué - - 2011
Congenital disorders of glycosylation (CDG) are genetic diseases caused by abnormal protein and lipid glycosylation. In this chapter, we report the clinical, biochemical, and molecular findings in two siblings with an unidentified CDG (CDG-Ix). They are the first and the third child of healthy consanguineous Argentinean parents. Patient 1 is ...
Alkindi S - - 2011
A sickle cell disease (SCD) patient with vaso-occlusive crisis (VOC) developed sudden senserinural hearing loss (SNHL), which responded well to a rapid course of corticosteroids along with exchange transfusions. The otolaryngologist should be aware of the otologic manifestations of SCD such as SNHL. A good response to steroids, which averted ...
Ninomiya Soranobu - - 2011
Pachydermoperiostosis (PDP) is a rare disorder of bone and connective tissue growth. A 21-year-old man was referred to our hospital with anemia. He showed characteristics of PDP. Bone marrow biopsy showed myelofibrosis. Chromosomal abnormalities or JAK2 mutation were not found. Anemia gradually progressed, and he became transfusion-dependent. Oral prednisolone was ...
Wong Grace Lai-Hung - - 2011
The performance of liver stiffness measurement (LSM) to monitor the changes in the severity of liver fibrosis in chronic hepatitis B (CHB) patients on antiviral treatment is uncertain. We prospectively studied CHB patients undergoing paired liver biopsy and transient elastography before and at week 48 of antiviral treatment. Based on ...
Papageorgiou Maria-Vasiliki - - 2011
To assess the value of transient elastography for predicting significant fibrosis or cirrhosis in chronic hepatitis B or C (CHB or CHC) patients. 75 patients (CHB: 45, CHC: 32) were included. All underwent elastography and liver biopsy concurrently. Biopsies were evaluated using Ishak's classification. Fibrosis was mild, moderate or severe/cirrhosis ...
Bem Ricardo Schmitt de - - 2011
Long-term data on the clinical follow-up and the treatment effectiveness of Wilson's disease are limited because of the low disease frequency. This study evaluated a retrospective cohort of Wilson's disease patients from southern Brazil during a 40-year follow-up period. Thirty-six Wilson's disease patients, diagnosed from 1971 to 2010, were retrospectively ...
Shah Anoop D - - 2011
Paracetamol (acetaminophen) is one of the most commonly taken drugs in overdose in many areas of the world, and the most common cause of acute liver failure in both the UK and USA. Paracetamol poisoning can result in lactic acidosis in two different scenarios. First, early in the course of ...
Gracia J - - 2011
We report the use of a haemostatic drug (recombinant activated factor VII (rFVIIa)) in a patient who presented a slow but constant bleed in oesophageal mucosa (which required frequent red blood cell transfusion) due to ingestion of caustic products. The administration of rFVIIa ceased bleeding and allowed mucosal cicatrisation and ...
Yim Hyung Eun - - 2010
One of the major goals in investigating children with urinary tract infection (UTI) is to recognize patients at risk of further UTI-related problems. This study reports the clinical features of 19 pediatric patients with UTIs in whom associated hepatic and/or pulmonary nodules were incidentally diagnosed by the imaging tests performed ...
Lee Chang Hee - - 2010
OBJECTIVE: To evaluate the value of the fade-out sign in the diagnosis of fatty liver (FL) on hepatic ultrasound (US). METHODS: We evaluated 127 patients who underwent hepatic US, including 70 patients with FL and 57 normal control subjects. US images were qualitatively evaluated for the presence of the fade-out ...
Priori Roberta - - 2011
First, to investigate the prevalence of liver involvement in adult-onset Still's disease (AOSD) Italian patients; secondly, to measure serum IL-18 concentration and correlate its level to other inflammatory markers and disease activity; and thirdly to characterize the expression level and the cellular source of IL-18 in the liver of a ...
Xu Jian - - 2010
Numerous studies have shown that aberrant microRNA (miRNA) expression is associated with the development and progression of various types of human cancer and serum miRNAs are potential biomarkers. This study examined whether some commonly deregulated miRNAs in hepatocellular carcinoma (HCC) are presented in serum of patients with HCC and can ...
Xu Jian - - 2011
Numerous studies have shown that aberrant microRNA (miRNA) expression is associated with the development and progression of various types of human cancer and serum miRNAs are potential biomarkers. This study examined whether some commonly deregulated miRNAs in hepatocellular carcinoma (HCC) are presented in serum of patients with HCC and can ...
Hou Xun-Ya - - 2010
Hepatic fibrosis caused by schistosome infection can be fatal. Its management depends on the degree of fibrosis present. To assess the diagnostic value of bio-markers in patients with advanced schistosomiasis japonica at different stages of disease progression, 84 advanced schistosomiasis japonica patients and nine controls were recruited in The People's ...
Fontana Robert J RJ Division of Gastroenterology, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan, USA. - - 2011
The objective of this study was to determine the incidence and risk factors associated with new-onset and worsening portal hypertensive gastropathy (PHG) in patients with chronic hepatitis C (CHC). A total of 831 CHC patients with bridging fibrosis or cirrhosis at the time of entry were prospectively monitored for clinical ...
Rosato Edoardo - - 2010
The aim of this study is to investigate pulsatility of digital arteries of hands by means of photoplethysmography (PPG) in patients with primary Raynaud phenomenon (PRP) and systemic sclerosis (SSc) and to compare the results with those obtained in healthy controls. One hundred five patients with SSc, 96 patients with ...
Takei Asako - - 2010
The aim of this study was to investigate the effects of tandospirone on ataxia in various types of spinocerebellar degeneration (SCD). Fifteen milligram per day of tandospirone was administered to 39 patients with SCD (spinocerebellar atrophy (SCA) 1, five patients; SCA2, six patients; Machado-Joseph disease (MJD), 14 patient; SCA6, five ...
Yu Su Jong - - 2010
P2/MS is known as a simple, accurate, and noninvasive marker for determination of the degree of hepatic fibrosis in patients with viral hepatitis. We aimed to validate P2/MS in patients with HCC. Consecutive HCC patients who underwent surgical resection between June 2007 and March 2009 at Seoul National University Hospital ...
Trépo Eric - - 2011
Fibrosis progression in patients with chronic hepatitis C (CHC) is highly variable. A Cirrhosis Risk Score (CRS) based on seven genetic variants has been recently developed for identifying patients at risk for cirrhosis. The objective of this study was to assess the role of the CRS for the early prediction ...
Tomlinson Susan E SE Institute of Neurology, University College London, London WC1N 3BG, - - 2010
Episodic ataxia type 1 is a neuronal channelopathy caused by mutations in the KCNA1 gene encoding the fast K(+) channel subunit K(v)1.1. Episodic ataxia type 1 presents with brief episodes of cerebellar dysfunction and persistent neuromyotonia and is associated with an increased incidence of epilepsy. In myelinated peripheral nerve, K(v)1.1 ...
Rosengren S M - - 2011
The cervical vestibular evoked myogenic potential (cVEMP) is sensitive to lower brainstem lesions affecting the vestibulo-collic pathway. We wished to determine whether the ocular VEMP (oVEMP), a recently-described otolith-ocular reflex, is also abnormal in patients with brainstem lesions. We tested patients with internuclear ophthalmoplegia (INO), caused by a brainstem lesion ...
Park Seung Ha - - 2011
Treating a group of chronic hepatitis B virus (HBV)-infected patients with high viral load and advanced fibrosis or cirrhosis, regardless of their serum alanine aminotransferase (ALT) levels, is recommended. The aim of this study was to derive and validate a model to predict advanced fibrosis in a cohort of patients ...
Minnerop Martina - - 2010
Multiple system atrophy (MSA) is a neurodegenerative disease not only affecting the basal ganglia, brainstem, cerebellum, and intermediolateral cell columns of the spinal cord but also the cerebral cortex. Clinically, cerebellar (MSA-C) and parkinsonian variants of MSA (MSA-P) are distinguished. We investigated 14 MSA patients (10 MSA-C, 4 MSA-P, men: ...
Sander T - - 2011
Downbeat nystagmus (DBN) is a frequent sign in patients with cerebellar degeneration. It consists of an upward drift of the eye that does not depend on vertical head position (spontaneous drift, SD), a gravity-dependent component (GD), and a gaze-evoked drift reflecting gaze-holding impairment (deficient neural integrator function). The potassium-channel blocker ...
Reijnders Jurriën G P - - 2011
We aimed to investigate serum hepatitis B surface antigen (HBsAg) levels in patients with chronic hepatitis B virus (HBV) infection during peginterferon (PEG-IFN) and entecavir (ETV) monotherapy. HBsAg was quantified (Abbott ARCHITECT) at baseline and during antiviral therapy (weeks 12, 24, 36, 48) in hepatitis B e antigen (HBeAg-) positive ...
Cavinato M - - 2011
The limited evidence and inconsistency of purposeful behaviors in patients in a minimally conscious state (MCS) asks for objective electrophysiological marker of the level of consciousness. Here, a comparison between event-related potentials (ERPs) was investigated using different level of stimulus complexity. The patients in vegetative state were 11 and the ...
Donaghy C - - 2010
Background Current findings suggest that eye movement abnormalities in ALS relate to frontal lobe impairment. Numerous case reports, however, describe slow saccades and supranuclear gaze palsies in patients with MND often associated with bulbar-onset disease. We performed a study of reflexive horizontal saccades and ocular fixation in patients with MND ...
Shirota Yuichiro - - 2010
Progressive supranuclear palsy (PSP) rarely shows cerebellar signs and symptoms even though the cerebellar dentate nuclei are involved pathologically. This study evaluates cerebellar function using transcranial magnetic stimulation (TMS) to determine whether subclinical cerebellar involvement is present in PSP patients. We studied 11 patients with PSP, 11 patients with Parkinson's ...
Liaw Yun-Fan - - 2011
Data are limited on the safety and effectiveness of oral antivirals other than lamivudine and adefovir dipivoxil for treatment of chronic hepatitis B (CHB) in patients with decompensated liver disease. This Phase 2, double-blind study randomized 112 patients with CHB and decompensated liver disease to receive either tenofovir disoproxil fumarate ...
Suttrup Inga I Department of Neurology, University of Muenster, Muenster, - - 2011
Former studies suggest an additional involvement of the sensory nervous system, beside the involuntary contractions of antagonist muscles, in idiopathic hand dystonia. We studied contact heat-evoked potentials and quantitative sensory testing (QST) in 10 patients suffering from idiopathic hand dystonia and 10 age-matched healthy controls. Cortical potentials recorded from the ...
Montagnese Sara - - 2010
The diagnosis of hepatic encephalopathy (HE) relies on clinical, neurophysiological, psychometric, and laboratory variables. The relationships and prognostic value of such tests continue to be debated. The aim of this study was to determine the laboratory correlates/prognostic value of neurophysiological/psychometric abnormalities in patients with cirrhosis. Seventy-two patients and 14 healthy ...
Iwasaki Masaki - - 2010
To determine whether patients with neocortical epilepsy show evidence for increased excitability measured by cortico-cortical evoked potentials (CCEPs) in ictal-onset regions. In patients undergoing intracranial recordings with subdural electrodes for epilepsy surgery, we measured amplitudes, latencies, and stimulus thresholds of CCEPs near ictal onset zones (iCCEPs), and compared with adjacent ...
Fasano Alfonso - - 2010
Patients with advanced stages of essential tremor frequently exhibit tandem gait ataxia with impaired balance control and imprecise foot placement, resembling patients with a cerebellar deficit. Thalamic deep brain stimulation, a surgical therapy for otherwise intractable cases, has been shown to improve tremor, but its impact on cerebellar-like gait difficulties ...
Kakizaki Satoru - - 2010
Bleeding from ectopic varices, including duodenal varices, is uncommon, but it can be difficult to manage. The clinical data of patients diagnosed and treated for duodenal varices were reviewed to investigate the strategy for treatment. The present study reviewed the clinical data of 10 patients with duodenal varices (mean age, ...
Joo Eun Yeon - - 2010
To investigate the effect of modafinil on cortical excitability in patients with narcolepsy using transcranial magnetic stimulation (TMS). Nineteen drug-naïve narcolepsy patients with cataplexy (10 males, 9 females, and mean age 28.5 years) and 25 age- and sex-matched healthy controls were recruited. In this double-blind, randomized, crossover study, patients and ...
Statham Melissa McCarty - - 2010
OBJECTIVES: Laryngeal electromyography (LEMG) is primarily a qualitative examination, with no standardized approach to interpretation. The objectives of our study were to establish quantitative norms for motor unit recruitment in controls and to compare with interference pattern analysis in patients with unilateral vocal fold paralysis (VFP). DESIGN: Retrospective case-control study ...
Joo Eun Yeon - - 2010
To investigate cortical excitability in patients with obstructive sleep apnea syndrome (OSAS) during wakefulness. The authors recruited 45 untreated severe OSAS (all males, mean age 47.2 years, mean apnea-hypopnea index=44.6h(-1)) patients and 44 age-matched healthy male volunteers (mean apnea-hypopnea index=3.4h(-1)). The TMS parameters measured were resting motor threshold (RMT), motor ...
Rombaux Philippe - - 2010
OBJECTIVES/HYPOTHESIS: The aim of the present study was to evaluate the course of olfactory dysfunction in patients with olfactory loss following infections of the upper respiratory tract. STUDY DESIGN: Prospective cohort. METHODS: A total of 27 patients were included; each patient was evaluated twice. Psychophysical testing of olfactory function was ...
Gupta Prem Parkash - - 2010
To assess whether patients having stable chronic obstructive pulmonary disease (COPD) with no clinical evidence of visual impairment or peripheral neuropathy have visual evoked potentials (VEP) abnormalities on electrophysiologic evaluation. In the present study, 80 male subjects with no clinical neuropathy or visual impairment were included; 40 COPD patients and ...
Ahmed Azza Mohamed - - 2010
The objective of this study was to explore the frequency of red cell alloantibodies and autoantibodies among β-thalassaemia patients who received regular transfusions. This study included 501 patients with β-thalassaemia. This work planned to study the presence of alloantibodies and autoantibodies to different red cell antigens in multitransfused thalassaemia patients ...
Perretti Anna - - 2011
In a previous study we found altered motor corticospinal conduction in patients with early-onset Parkinson's disease (EOPD) and parkin gene mutations (PARK2). Aim of the present study was to evaluate central motor conduction in patients with EOPD, negative for parkin mutations to establish if prolonged CMCT is specific of PARK2 ...
Isak Baris - - 2011
It is generally accepted that F-wave duration (FWD) and the cutaneous silent period (CSP) are influenced by diminished central inhibition. The aim of this study was to diagnose patients of restless legs syndrome (RLS) with the help of FWD and/or CSP parameters. In all, 24 patients with primary RLS were ...
Han Yan - - 2010
Spinocerebellar ataxia type 7 (SCA7) is known as an autosomal dominant cerebellar ataxia; patients with genetically confirmed diagnoses of SCA7 have increased rapidly in recent years. However, SCA7 is a rare subtype of SCA, and most data available about SCA7 are those of white people. The aim of the present ...
Aparci Mustafa - - 2010
Hepatic steatosis is associated with metabolic and hemodynamic abnormalities induced by insulin resistance and inflammatory state. Since abnormalities of P wave dispersion may be accompanied with latter issues we evaluated this subject in patients with hepatic steatosis. Total of 106 patients and 56 healthy subjects were enrolled and performed hepatic ...
Gilio Francesca - - 2010
Botulinum toxin type A (BoNT/A) has been proposed as an alternative treatment for sialorrhoea in patients with amyotrophic lateral sclerosis (ALS). In an open-label prospective study, BoNT/A was injected into the parotid glands bilaterally using anatomic landmarks in 26 ALS patients with bulbar symptoms. Two weeks after injection the severity ...
Zobel S - - 2010
It is widely assumed that the thalamus is not involved in olfaction. The ventrolateral thalamus is, however, closely connected to the contralateral cerebellum, which is involved in the sense of smell based on findings from functional imaging studies and findings of olfactory deficits in patients with cerebellar disease. We hypothesized ...
Oz Gülin G Center for MR Research, Department of Radiology, Medical School, University of Minnesota, Minneapolis, Minnesota 55455, USA. - - 2010
Robust biomarkers of neurodegeneration are critical for testing of neuroprotective therapies. The clinical applicability of such biomarkers requires sufficient sensitivity to detect disease in individuals. Here we tested the sensitivity of high field (4 tesla) proton magnetic resonance spectroscopy ((1)H MRS) to neurochemical alterations in the cerebellum and brainstem in ...
Nolte D - - 2010
Spinocerebellar ataxia type 17 (SCA17) is caused by abnormal expansions of CAG/CAA trinucleotides within the TATA-box binding protein gene (TBP). The currently accepted critical threshold of abnormal expansions is ≥43. To investigate the minimal CAG/CAA expansion within the TBP in SCA17. 285 patients with autosomal-dominant ataxia were examined, and abnormal ...
Bleton Jean Pierre - - 2011
In order to explore the pathophysiological basis of a new rehabilitation therapy in writer's cramp (WC), healthy controls, untreated WC patients and WC patients who recovered a legible handwriting after rehabilitation were explored using magnetoencephalography, and the somatosensory evoked fields of fingers I, II, III and V in the sensory ...
Kieslich Matthias - - 2010
Ataxia telangiectasia (AT) is a rare autosomal recessive disorder characterized by progressive ataxia, neurodegeneration, immunodeficiency, and cancer predisposition. Pathoanatomical studies reported a degeneration of cerebellar Purkinje cells as the striking feature of the disease. Although recent studies suggested the involvement of extracerebellar structures such as the brainstem and basal ganglia, ...
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