Nemaline myopathy is a rare congenital myopathy that generally presents in childhood. We report a case of a 44-year-old man who presented with severe hypoxic hypercapnic respiratory failure as the initial manifestation of nemaline myopathy. After starting noninvasive ventilation, his pulmonary function test results improved substantially, and over the 4 years since diagnosis his respiratory fun...

This syndrome is a shock-like hyper metabolic myopathy triggered in susceptible animals by stress. Capture myopathy (C.M.) is a commonly occurring condition in mammals following trapping and transportation. In this case 12 to 24 hours after transportation of red deer (Cevus elaphus) and wild goats (Capra ibex) clinical signs such as: muscular tremor, ataxia, recumbency, hyperthermia, tachyca...

it has already been reported that muscle necrosis induced by various phenylenediamine derivatives are correlated with their autoxidation rate. now in a more detailed investigation of the cytotoxic mechanism using a model system of isolated hepatocytes and ring-methylated structural isomer durenediamine (dd) we have shown that under aerobic conditions, phenylenediamine induced cytotoxicity and r...

We report three adolescent patients with osteomalacia who presented initially with clinical features consistent with proximal myopathy. All patients had low serum level of 25 hydroxy vitamin D. Furthermore, radiological investigations confirmed osteomalacia. Myopathy responded well to appropriate treatment of osteomalacia. Possible pathophysiologic explanation of myopathy in patients with osteo...

We present a 25 year follow up of two siblings with autosomal recessive (AR) oculopharyngodistal myopathy. Remarkable in these patients, in comparison with patients with oculopharyngeal muscular dystrophy (OPMD), are the earlier age of onset, severe facial weakness, external ophthalmoplegia early in the course of the disease, and distal weakness in the limbs. Histological features included baso...

Cancer cachexia is a debilitating multi-factorial wasting syndrome characterised by severe skeletal muscle and dysfunction (i.e., myopathy). In the oncology setting, arises from synergistic insults both cancer–host interactions chemotherapy-related toxicity. The majority of studies have surrounded interaction side cancer cachexia, often overlooking capability chemotherapy to induce cachectic my...

how to cite this article: ghofrani m. lysosomal storage disease (lsds). iran j child neurol. 2015 autumn;9:4(suppl.1): 1. pls see pdf.

how to cite this article: rezayi ar. vitamin e and niemann–pick disease type c. iran j child neurol. 2015 autumn;9:4(suppl.1): 23. pls see pdf.

Chloroacetaldehyde (CAA) is a chlorination by-product in finished drinking water and a toxic metabolite of a wide variety of industrial chemicals (e.g. vinyl chloride) and chemotherapeutic agents (e.g. cyclophosphamide and ifosfamide). In this research, the cytotoxic mechanisms of CAA in freshly isolated rat hepatocytes were investigated.CAA cytotoxicity was associated with reactive oxygen spec...

6- mercaptopurine (6-mp) is widely used in clinic as an immunosuppressive for treatment of acute lymphocytic leukemia, crohn's disease, and ulcerative colitis with documented unpredictable hepatotoxicity. the potential molecular cytotoxic mechanisms of 6-mp against isolated rat hepatocytes were searched in this study using “accelerated cytotoxicity mechanism screening (acms)” techniques. t...