Publications by authors named "Ruah Al-Yamany"

Background: Multiple myeloma (MM) represents the second most common hematologic malignancy (15%). Induction with bortezomib, cyclophosphamide, and dexamthasone VCd (d: low dose dexamthasone) regimen is widely used due to its high effectiveness, low toxicity and good tolerability, particularly with renal impairment. Real-world data on the use of VCD in clinical practice is lacking.

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Immunoproliferative small intestinal disease (IPSID) is an uncommon disease with a higher prevalence in the developing world. IPSID diagnosis relies mainly on a tissue biopsy and a high index of suspicion. Treatment options are variable; however, they mainly include anthracycline-based chemotherapy with or without antibiotics in advanced stages.

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Article Synopsis
  • Dysmorphology syndromes are common in clinical genetics, and identifying new syndromes can be challenging; this study focuses on multiplex consanguineous families thought to have novel autosomal recessive dysmorphology syndromes.
  • Autozygome/exome analysis was conducted on these families, revealing several candidate genes that were previously unknown, with 10 newly identified genes reported.
  • The study showed a high success rate (90%) in diagnosing molecular causes, highlighting the importance of detailed clinical and genomic analysis in advancing the understanding of rare syndromes.
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