Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease

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Anatomical and histological morphometry of the sural nerve in human fetuses

Introduction

In our study, the aim was to anatomically and histologically investigate the morphometric structures of the branches involved in the sural nerve and sural nerve formation.

Evaluation of the cases with acute disseminated encephalomyelitis

Objective  We aimed to describe the epidemiologic, clinical, laboratory features, neuroimaging, treatment, and outcome of children with acute disseminated encephalomyelitis in a cohort study. Methods  In this study, twelve children who were diagnosed as acute disseminated encephalomyelitis were reviewed retrospectively. All of the cases were reevaluated with systemic and neurological examinations, serologic tests, cerebrospinal fluid investigations, magnetic resonance imaging. Result  Their age ranged between 2.5 and 16 years. Five of the cases had initial infections. Patients presented most often with motor deficits (75%), secondly with loss of conscious (33%), and seizures (33%). Spinal fluid abnormalities occurred in 41.6%. Cranial, and spinal magnetic resonance imaging (MRI) revealed hyperintense signal changes mainly in basal ganglia and thalamus (58%), cortical and subcortical areas (33) in T2 weighted images. Myelitis was determined in two cases. Six patients were treated with steroid, and 3 were treated with intravenous immunoglobulin. Ten patients recovered completely. We observed relapse in one case and recurrence in two cases. These cases responded well to high dose intravenous prednisolone followed by oral prednisolone for 6 months. Conclusion  Outlook recovery is generally good in acute disseminated encephalomyelitis. Recurrence and neurological deficits are rarely seen. Early treatment of prednisolone is one of the most important factors to determine the prognosis in this disease.     

Effects of selective Cox-2 inhibitor, rofecoxib, alone or combination with furosemide on renal functions and renal Cox-2 expression in rats

Background  

Nonsteroidal anti-inflammatory drugs act by inhibiting the rate-limiting enzymes cyclooxygenase-1 (Cox-1) and cyclooxygenase-2 (Cox-2), which are important in prostanoid formation. The aim of this experimental study was to examine the effects of selective Cox-2 inhibitor, rofecoxib, with or without furosemide, on urine and serum electrolytes, creatinine clearance, plasma renin activity (PRA), and Cox-2 expression in the renal cortex.     

Ultrasonography in patients with ulnar neuropathy at the elbow: Comparison of cross‐sectional area and swelling ratio with electrophysiological severity

The aim of this study was to determine the diagnostic value of ultrasonographic measurements in ulnar neuropathy at the elbow (UNE) and to assess the relationship between the measurements and the electrophysiological severity. The largest anteroposterior diameter (LAPD) and cross‐sectional area (CSA) measurements of the ulnar nerve were noted at multiple levels along the arm, and the distal‐to‐proximal ratios were calculated. Almost all of the measurements and swelling ratios between patients and controls showed statistically significant differences. The largest CSA, distal/largest CSA ratio, CSA at the epicondyle, and proximal LAPD had larger areas under the curve than other measurements. The sensitivity and specificity in diagnosing UNE were 95% and 71% for the largest CSA, 83% and 85% for the distal/largest CSA ratio, 83% and 81% for the CSA at the epicondyle, and 93% and 43% for the proximal LAPD, respectively. There was a statistically significant correlation between the electrophysiological severity scale score (ESSS) and the largest CSA, the CSA at the epicondyle and 2 cm proximal to the epicondyle, and the LAPD at the level of the epicondyle (P < 0.05). None of the swelling ratios showed a significant correlation with the ESSS. The largest CSA measurement is the most valuable ultrasonographic measurement both for diagnosis and determining the severity of UNE. Muscle Nerve, 2010     

Nitric oxide synthase gene polymorphisms in children with minimal change nephrotic syndrome

Aims:  Nitric oxide (NO) attenuates many functions within the kidney, and all NO synthase (NOS) isoforms are constitutively expressed in the kidney. But the exact role of NO in renal diseases is still debatable. The aim of the present study was to investigate endothelial ( eNOS ), and neuronal ( nNOS ) NOS gene polymorphisms in children with minimal change nephrotic syndrome (MCNS).
Materials and methods:  Eighty-six Turkish children with clinical MCNS, ranging in age from 2 to 10 years, were compared with 114 healthy age- and sex-matched controls. The glu 298 Asp (G/T) polymorphism of the eNOS, and C276T (C/T) polymorphism of nNOS genes were genotyped using polymerase chain reaction.
Results:  The distribution of GG, TG, and TT genotypes for eNOS was 52%, 33% and 15% in MCNS compared with 61%, 26% and 13% in the controls ( P  > 0.05). The distribution of CC, TC, and TT genotypes for nNOS was 16%, 66% and 18% in MCNS compared with 10%, 43% and 47% in the controls. TT genotype distribution of nNOS was found to be lower in patients ( P  = 0.003). The eNOS and nNOS gene polymorphisms were not associated with gender, positive family history, frequency of relapses, or response to steroid.
Conclusions:  The present study is the first to investigate eNOS and nNOS gene polymorphisms in children with MCNS. The nNOS gene polymorphism may be associated with MCNS in children, but further studies in a larger population with different glomerular diseases are needed to confirm the results.