نتایج جستجو برای: brody myopathy

تعداد نتایج: 12892  

Journal: :Gut 1993
R Lowsky G Davidson S Wolman K N Jeejeebhoy R A Hegele

A 27 year old man with intestinal pseudo-obstruction who developed parenteral nutrition induced hyperlipidaemia and who also had ophthalmoplegia and an undifferentiated myopathy is described. Histological examination of biopsy specimens and molecular analysis show that this patient had both familial visceral myopathy and a mitochondrial myopathy, suggesting that a mitochondrial DNA mutation is ...

Ahmet Cagdas Acara Mehtap Bulut, Muhittin İşsever Mustafa Bolatkale, Ulaş Karaoğlu

 Statins are commonly used drugs in the treatment of hyperlipidemia (HL), despite some undesirable side effects. These range from mild symptoms such as myopathy, muscle weakness and myalgia to severe muscle weakness associated with chronic myopathy and acute renal failure (ARF) as a result of rhabdomyolysis. The most serious and deadly side effect of statins is rhabdomyolysis. The case presente...

Journal: :Current opinion in neurology 2008
May Christine V Malicdan Satoru Noguchi Ichizo Nishino

PURPOSE OF REVIEW Distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy is an adult-onset autosomal recessive, slowly progressive and debilitating myopathy due to mutations in the gene that regulates the synthesis of sialic acid. This review aims to update our knowledge of this myopathy and to review studies about pathomechanism and therapeutic strategies. RECENT FINDINGS...

Journal: :Respiratory care 2008
Emer Kelly Michael A Farrell Noel G McElvaney

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...

A. Alhami H. Hamidieh J. Mirian

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...

2015
N. Ghavi Hossein-Zadeh

In order to describe the lactation curves of milk yield (MY) and composition in buffaloes, seven non-linear mathematical equations (Wood, Dhanoa, Sikka, Nelder, Brody, Dijkstra and Rook) were used. Data were 116 117 test-day records for MY, fat (FP) and protein (PP) percentages of milk from the first three lactations of buffaloes which were collected from 893 herds in the period from 1992 to 20...

2011
Hessah M. AL-Otaibi Nasir A.M AL-Jurayyan Sarar Mohamed Mustafa A. M. Salih

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...

Journal: :Tyumen State University Herald. Social, Economic, and Law Research 2019

Journal: :Journal of neurology, neurosurgery, and psychiatry 2004
B M van der Sluijs H J ter Laak H Scheffer S M van der Maarel B G M van Engelen

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...

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