Aconitase 2 (ACO2) encodes the mitochondrial aconitase (ACO2), an enzyme catalyzing interconversion of citrate into isocitrate in the Krebs cycle. ACO2mutations have been initially associated with infantile cerebellar-retinal degeneration combining optic atrophy, retinal degeneration, severe encephalopathy, epilepsy, and cerebellar ataxia; subsequently, ACO2 mutations have also been associated ...

A new technique permitting electromyographic electrode localisation during open muscle biopsy is described. Using this technique recordings were made from biceps brachii from 22 normal subjects and 19 patients with neurogenic atrophy. Motor unit potential duration and onset interspike interval were the best predictors of histochemical evidence for atrophy. Of patients with neurogenic atrophy, p...

BACKGROUND AND PURPOSE Asymmetric presentation of clinical feature in parkinsonism is common, but correlatable radiologic feature is not clearly defined. Our aim was to evaluate 3T susceptibility-weighted imaging findings for differentiating parkinsonism-predominant multiple system atrophy from idiopathic Parkinson disease, focusing on putaminal changes and lesion asymmetry. MATERIALS AND MET...

Refractory celiac disease (RCD) is when malabsorption symptoms and villous atrophy persist despite strict adherence to a gluten free diet (GFD) for more than 12 months and other causes of villous atrophy have been ruled out.  RCD is considered a rare disease and almost exclusively occurs in adults. Persistent diarrhea, abdominal pain, weight loss are the most common symptoms in RCD. Also, anemi...

Introduction: One of the main treatments of chronic otitis media with effusion is ventilation of the middle ear with a ventilation tube (VT). The objective of this study was to determine the incidence and the types of VT complications in children with otitis media with effusion in Ahwaz. Materials and Methods: In this prospective study, the medical records of 208 children (52 male and 35 female...

The British Menopause Society Council aims to aid health professionals to inform and advise women about postreproductive health. This guidance refers to the long-term condition of urogenital atrophy. Treatment choice should be based on up to date information and targeted to individual women's needs. Non-estrogen and estrogen-based treatments are discussed.

Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by degeneration of alpha motor neurons resulting in hypotonia, progressive muscular weakness and atrophy.30 Spinal muscular atrophy is one of the leading hereditary causes of infant mortality,31 it comprises the second most common fatal progressive diseases after cystic fibrosis.28 Spinal muscular atrophy is the most common...

White matter lesions are defining characteristics of multiple sclerosis (MS), whereas grey matter involvement is a less recognised attribute. Recent investigations using dedicated imaging approaches have made it possible to depict cortical lesions. Additionally, grey matter atrophy may be estimated using various methods. Several studies have suggested that grey matter atrophy closely correlates...

Abstract Background Multiple sclerosis is a chronic demyelinating disease of the central nervous system. It may lead to disability and cognitive impairment. Our study aimed at evaluation role MR volumetry technique in detection brain atrophic changes patients with multiple its impact on prognosis. Results This was carried out thirty healthy control mean age 26.23 years remitting relapsing scler...