Magdi Mansour Abdel Farage Salih

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OBJECTIVE To review the neurologic, neuroradiologic, and electrophysiologic features of autosomal recessive horizontal gaze palsy and progressive scoliosis (HGPPS), a syndrome caused by mutation of the ROBO3 gene on chromosome 11 and associated with defective decussation of certain brainstem neuronal systems. METHODS The authors examined 11 individuals(More)
Congenital muscular dystrophy (CMD) is a group of clinically and genetically heterogeneous disorders inherited in an autosomal recessive mode. The alpha2-chain of laminin-2 (previously called merosin) has been shown by immunohistochemical and genetic analyses to be implicated in the pathogenesis of the 'classic' form of CMD. In the 'merosin-deficient'(More)
Intellectual disability (ID) is a measurable phenotypic consequence of genetic and environmental factors. In this study, we prospectively assessed the diagnostic yield of genomic tools (molecular karyotyping, multi-gene panel and exome sequencing) in a cohort of 337 ID subjects as a first-tier test and compared it with a standard clinical evaluation(More)
BACKGROUND The first step in improving early neonatal survival is to document rate of these deaths, identify the common causes. OBJECTIVES the study was conducted at New Halfa hospital, eastern Sudan to investigate the prevalence and possible risk factors for a poor perinatal outcome, mainly low birth weight (LBW), APGAR score <5 at 1 min, fetal anaemia(More)
The clinical presentation and laboratory features in relation to short-term outcome in 118 prospectively studied Sudanese children who were admitted with meningococcal (MC) meningitis and/or septicaemia during the 1988 group A MC epidemic in Greater Khartoum are described. Their ages ranged from 25 days to 15 years (mean: 78 months) and 42% were less than 5(More)
During the period April 1985 to November 1986 (18 months), 196 children (of age greater than 1 month) admitted to the Children's Emergency Hospital in Khartoum, Sudan, with clinical suspicion of meningitis/meningoencephalitis were followed up prospectively. Bacterial meningitis was diagnosed by culture, direct microscopy and/or antigen-detecting assays(More)
Beat to beat changes in cardiac output during standardized Valsalva's manoeuvres were recorded using electrical bioimpedance cardiography in 13 normal subjects. Cardiac output increased by 12 +/- 5% after 1 s of straining solely because of an increase in heart rate. Subsequently, cardiac stroke volume and cardiac output fell during the strain to lows of -40(More)
Nephronophthisis is the most common genetic cause of renal failure in children and young adults. It is genetically heterogeneous and can be seen in isolation or in combination with other ciliopathy phenotypes. Here we report an index case where nephronophthisis is associated with oculomotor apraxia and cerebellar abnormalities, consistent with the clinical(More)
The clinical manifestations, biochemical, electrocardiographic, histological and histochemical features of a severe autosomal recessive muscular dystrophy (MD)--as seen in 15 members of a large Sudanese kindred, both male and female--are reported and discussed. The age of onset ranged from three to five years, the pattern of muscular weakness was similar to(More)