Publications by authors named "Saif Al-Yaroubi"

Sanjad-Sakati syndrome (SSS; Online Mendelian Inheritance in Man [OMIM] #241410), also known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, is an autosomal recessive disorder in which prenatal-onset extreme growth retardation, congenital hypoparathyroidism and craniofacial dysmorphism result from mutations in the tubulin-specific chaperone E (TBCE) gene on chromosome 1q42-43. We report unique ophthalmic findings in a two-year-old child with molecularly confirmed SSS, who was admitted to Sultan Qaboos University Hospital in Oman at 11 weeks old with bilateral congenital corneal clouding. The ophthalmic findings in this patient were linked to faulty microtubule assembly in the brain, abnormal intracellular membrane transport and the resulting metabolic derangement seen in patients with SSS.

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Article Synopsis
  • A study developed DRASTIC vulnerability maps for the Barka region in Oman using GIS to assess changes in groundwater vulnerability from 1995 to 2004.
  • The northern part of Barka was found to be more vulnerable to pollution, while the southern part showed a decrease in vulnerability over time, attributed to changes in groundwater abstraction rates.
  • The study indicated that despite the DRASTIC method predicting high vulnerability in the central area, this region had lower chemical and biological contamination levels due to agricultural and urban development primarily occurring in the coastal region.
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