Mucolipidosis Type IV (MLIV) is caused by a deficiency of the mucolipin cation channel encoded by Mucolipin TRP Cation Channel 1 gene (). It is a slowly progressive neurodevelopmental and neurodegenerative disorder causing severe psychomotor developmental delay and progressive visual impairment, which is often misdiagnosed as cerebral palsy. We describe six patients with MLIV from two Omani families with a novel c.
View Article and Find Full Text PDFObjectives: Prostate cancer is the leading cancer in older men. The Ministry of Health Oman Cancer Incidence Registry 2013 lists cancer of the prostate as the first most common cancer in males. Therefore, early detection is important and prostate-specific antigen (PSA) is widely used as an established laboratory test.
View Article and Find Full Text PDFLower mortality rates from coronary heart disease and higher levels of serum high-density lipoprotein cholesterol (HDL-C) have been observed in populations residing at high altitude. However, this effect has not been investigated in Arab populations, which exhibit considerable genetic homogeneity. We assessed the relationship between residing altitude and HDL-C in 2 genetically similar Omani Arab populations residing at different altitudes.
View Article and Find Full Text PDFWe report a case of unexpected extreme hypertriglyceridemia in a 32 year old man following 5 days of intravenous heparin infusion. We believe the cause of the elevation is mainly due to a temporary depletion of lipoprotein lipase caused by heparin. To the best of our knowledge, this is the first case report of such an extreme elevation in triglycerides following prolonged intravenous heparin infusion.
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