Search results for "Asia"
showing 10 items of 2697 documents
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort…
2015
Background The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the KANSL1 gene. To date, about 60 subjects with chromosome deletion and 4 subjects with point mutation in KANSL1 have been reported. Prevalence of chromosome deletions compared with point mutations, genotype–phenotype correlations and phenotypic variability have yet to be fully clarified. Methods We report genotype–phenotype correlations in 27 novel subjects with 17q21.31 deletion and in 5 subjects with KANSL1 point mutation , 3 of whom were not previously reported. Results The prevalence of chromosome deletion and KANSL1 mutation was 83% and 17%, respectively. All patient…
Glutathione levels in blood from ataxia telangiectasia patients suggest in vivo adaptive mechanisms to oxidative stress
2007
Objective: To evaluate an in vivo pro-oxidant state in patients with ataxia telangiectasia (AT). Methods: A set of oxidative stress endpoints were measured in 9 AT homozygotes, 16 AT heterozygotes (parents) and 83 controls (grouped in age ranges as for patients and parents, respectively). The following analytes were measured: (a) leukocyte 8-hydroxy-2-deoxyguanosine (8-OHdG); (b) blood glutathione (GSSG and GSH); and (c) plasma levels of glyoxal (Glx) and methylglyoxal (MGlx). Results: AT patients displayed a significant decrease in blood GSSG (p=0.012) and in MGlx plasma concentrations (P=0.012). A nonsignificant decrease in the GSSG:GSH ratio (p = 0.1) and a non-significant increase in 8-…
Antenatal Steroids and Antioxidant Enzyme Activity in Preterm Infants: Influence of Gender and Timing
2009
Antenatal steroids have improved the survival of preterm infants; however, the mechanism of action is not fully understood. We aimed to establish an association between antenatal steroids and antioxidant activity and postnatal oxidative stress. In a prospective cohort study, extremely preterm neonates receiving antenatal steroids (CORT) or not (NOCORT) were enrolled. An association between antenatal steroids and activities of antioxidant enzymes and glutathione cycle enzymes in cord blood was found. In addition, reduced oxidative stress (GSH/GSSG ratio, CORT vs. NOCORT, 35.68 + or - 12.20 vs. 28.38 + or - 9.92; p < 0.01) and, decreased oxidation of proteins (ortho-tyrosine/phenylalanine rat…
Role of the GALAD and BALAD-2 Serologic Models in Diagnosis of Hepatocellular Carcinoma and Prediction of Survival in Patients.
2016
Background & Aims GALAD and BALAD-2 are statistical models for estimating the likelihood of the presence of hepatocellular carcinoma (HCC) in individual patients with chronic liver disease and the survival of patients with HCC, respectively. Both models use objective measures, particularly the serum markers α-fetoprotein (AFP), AFP-L3, and des-γ-carboxyprothrombin. We aimed to validate these models in an international cohort of patients with HCC and assess their clinical performance. Methods We collected data on cancer diagnosis and outcomes of 6834 patients (2430 with HCC and 4404 with chronic liver disease) recruited from Germany, Japan, and Hong Kong. We also collected data from 229 pati…
A case of atypical sporadic hemiplegic migraine associated with PFO and hypoplasia of vertebro-basilar system.
2009
We describe the case of a patient with atypical hemiplegic migraine and associated basilar symptoms, where a large patent foramen ovale (PFO) and hypoplasia of basilar artery were found. The longer period of 4-year remission of the headache attacks was coincident with the percutaneous PFO closure. When 5 years after, hemiplegic migraine attacks relapsed, with more relevant basilar symptoms, a mild re-opening of PFO was found. The atypical presentation of attacks with basilar symptoms and prolonged hemiplegia does not strictly fit the diagnostic criteria of ICHD-II.
Screening for congenital renovascular hypoplasia and renal artery stenosis by acute converting enzyme inhibition.
1993
To evaluate the usefulness of the captopril test for identifying renal artery stenosis (RAS) and renovascular hypoplasia (RAH), we studied 48 hypertensive patients. In 20 hypertensives with screening procedures indicating renovascular disease and in 28 essential hypertensives (EH), the plasma renin activity (PRA) responses to an oral test dose of captopril (50 mg) were studied. A 60-min post-captopril PRA increase of 150% (or 400% if baseline PRA < or = 3 ng/ml/h) was considered as positive. Renal angiography was performed in all cases. Among the 20 renovascular hypertensive patients, RAH in 9 and RAS in 11 subjects were proved by angiography. The captopril test in all patients with RAH res…
Evaluation of esophagogastric junction relaxation by 4-second Integrated Relaxation Pressure in achalasia using High Resolution Manometry with water-…
2014
Background Relaxation of the esophagogastric junction (EGJ) is now evaluated calculating 4-second integrated relaxation pressure (4-s IRP) by high resolution manometry (HREPT). Solid-state catheters have been used to define abnormal values. Our aim was to evaluate 4-s IRP in esophageal achalasia using HREPT with perfused catheters. Methods From June 2009 to June 2013, 936 HREPT studies have been performed in our unit. Of these, 194 patients having treated achalasia were excluded. Control group was constituted by 695 patients without achalasia, and 47 patients with untreated achalasia constituted the study group. HREPT was performed with water-perfused catheters. To establish the cut-off val…
A functional study of the esophagus in patients with non-cardiac chest pain and dysphagia.
2015
Background/Aims: Nutcracker esophagus and non-specific motility disorders are the main causes of non-cardiac chest pain (NCCP), with gastroesophageal reflux in 60% of cases. Achalasia and diffuse esophageal spasm are the most frequent anomalies described in patients with dysphagia. The goal of this study was to evaluate the occurrence of esophageal body and lower esophageal sphincter motor abnormalities in patients with dysphagia, NCCP, or both. Materials and Methods: This study is a retrospective analysis of 716 patients with NCCP and/or dysphagia tested between January 1994 and December 2010. 1023 functional studies were performed, 707 of which were esophageal manometries, 225 esophageal …
Correction of Constricted Ear
1995
We present a case of moderate constricted ear corrected using a modified Tanzer's technique for the helical deformity and lengthening the lower third of the pinna with a cutaneous transposition flap from the retroauricular area. The operation begins with a rapid intraoperative expansion of the retroauricular skin. Then an incision is made on the posteromedial ear aspect and the ear is degloved using a subperichondral plane. The upper pole of the cartilage is expanded and rearranged by an anteriorly pedicled helical flap and a cartilaginous graft is taken from the constricted part of the concha. The lower third of the pinna is lengthened by a cutaneous transposition flap from the retroauricu…
Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5.
2020
Arrhythmogenic right ventricular cardiomyopathy type V (ARVC-5) is the most aggressive heterozygous form of ARVC. It is predominantly caused by a fully penetrant mutation (p.S358L) in the nondesmosomal gene TMEM43-endemic to Newfoundland, Canada. To date, all familial cases reported worldwide share a common ancestral haplotype. It is unknown whether the p.S358L mutation by itself causes ARVC-5 or whether the disease is influenced by genetic or environmental factors. The purpose of this study was to examine the phenotype, clinical course, and the impact of exercise on patients with p.S358L ARVC-5 without the Newfoundland genetic background. We studied 62 affected individuals and 73 noncarrie…