Publications by authors named "Molham Al-Rayess"
Objective: The giant protein titin is essential for striated muscle development, structure, and elasticity. All titin mutations reported to date cause late-onset, dominant disorders involving either skeletal muscle or the heart. Our aim was to delineate the phenotype and determine the genetic defects in two consanguineous families with an early-onset, recessive muscle and cardiac disorder.
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- The study assessed clinical and biochemical characteristics of Saudi children with strokes caused by mitochondrial disorders over a 10-year period.
- Four out of 104 children (3.8%) were found to have mitochondrial disorders as the cause of their strokes, with three diagnosed with Leigh syndrome and one with MELAS syndrome.
- Results indicated that children presented with symptoms like psychomotor regression and seizures, while specific biochemical tests revealed some muscle deficiencies, but no definitive mitochondrial DNA mutations were identified in the majority of cases.
Brain metastasis as an initial manifestation of a gallbladder carcinoma.
Neurosciences (Riyadh)
July 2005
Though autopsy studies demonstrated 5% metastasis to the brain, clinical presentation of a central nervous system metastasis from gallbladder cancer is rare. We report a case of a 72-year-old woman who initially presented with a solitary brain metastasis from an adenocarcinoma of the gallbladder, which was diagnosed pre-operatively as glioblastoma multiforme. This is the second of such a case in the English literature.
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