Filtered By:
Countries: Saudi Arabia Health

This page shows you your search results in order of date.

Order by Relevance | Date

Total 40 results found since Jan 2013.

Genes, Vol. 12, Pages 1783: Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population
ek Colak Namik Kaya Congenital myopathies are rare neuromuscular hereditary disorders that manifest at birth or during infancy and usually appear with muscle weakness and hypotonia. One of such disorders, early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD, OMIM: 614399, MIM: 612453), is a rare autosomal recessive disorder caused by biallelic mutations (at homozygous or compound heterozygous status) in MEGF10 (multiple epidermal growth factor-like domains protein family). Here, we report two unrelated patients, who were born to consanguineous parents, having two novel MEGF10 deleterious varia...
Source: Genes - November 10, 2021 Category: Genetics & Stem Cells Authors: Mohammad AlMuhaizea Omar Dabbagh Hanan AlQudairy Aljouhra AlHargan Wafa Alotaibi Ruba Sami Rahaf AlOtaibi Mariam Mahmoud Ali Hindi AlHindi Dilek Colak Namik Kaya Tags: Brief Report Source Type: research

Kaposi's sarcoma associated with adult dermatomyositis
We report a case involving a 73-year-old Saudi man diagnosed with dermatomyositis who subsequently developed Kaposi's sarcoma one month later. He had difficulty in rising from a chair and increased leg weakness while climbing stairs or walking. He was unable to comb his hair and had greater dysphagia with liquids than with solid foods. Laboratory tests showed elevated liver enzyme and creatine kinase levels. Right quadriceps muscle biopsy indicated inflammatory myopathy, which was consistent with adult dermatomyositis. We administered 1-g/day methylprednisolone intravenously for 3 days, followed by 60-mg oral prednisolone ...
Source: Saudi Medical Journal - April 26, 2021 Category: Middle East Health Authors: Khawla K Alghanim Batol G Gasmelseed Source Type: research