Myoclonic epilepsy with red ragged fibres (MERRF) is a rare mitochondrial disorder presenting with progressive myoclonus, epilepsy, and cognitive decline. Here, the authors present a case of a 29-year-old lady presenting with myoclonus and describe the subsequent investigations that led to a diagnosis of MERRF. In addition, we examine her cognitive decline over a 9-year period, demonstrating a ...

P.A.S. OLIVIER, S.M. DIPPENAAR, L.F. KHALIL & N.M . MOKGALONG. 2000. Observations on a lesser-known monogenean, Udonella myliobati, from a copepod parasite, Lepeophtheirus natalensis, parasitizing the spotted ragged-tooth shark, Carcharias taurus, from South African waters. Onderstepoort Journal of Veterinary Research, 67: 135-140 The phylogeny of the genus Udonella has been disputed for quite ...

BACKGROUND Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a distinctive autosomal recessive disorder with mitochondrial alterations due to mutations TYMP gene encoding thymidine phosphorylase. MATERIALS AND METHODS Study of clinical and biochemical characteristics of a family with MNGIE. RESULTS Index case was a 32 year old man presenting with recurrent vomiting, early sat...

OBJECTIVE To investigate the molecular etiology of 2 unrelated patients with a multisystem mitochondrial disorder accompanied by optic atrophy in one of them. DESIGN Clinical examination and neurophysiological, radiological, morphological, and molecular analyses. SETTING Tertiary care neuromuscular clinic and molecular genetics laboratory. PATIENTS A 65-year-old man (patient 1) with dysch...

VCAM-1 (vascular cell adhesion molecule-1) and Sox18 are involved in vascular development. VCAM-1 is an important adhesion molecule that is expressed on endothelial cells and has a critical role in endothelial activation, inflammation, lymphatic pathophysiology, and atherogenesis. The Sry-related high mobility group box factor Sox18 has previously been implicated in endothelial pathologies. Mut...