Publications by authors named "Mohammed ALRawahi"
Objectives: Acute myeloid leukemia (AML), among other malignancies, has been linked to the deregulation of the Janus kinase/signal transducer and activator of transcription (JAK/STAT) signalling pathway, which is essential for cell growth, proliferation, and differentiation. This study aimed to investigate the expression of JAK/STAT proteins at diagnosis and remission and how it affects overall survival (OS).
Methods: This is a prospective study conducted in the College of Medicine, Sultan Qaboos University.
Although blood group variation was first described over a century ago, our understanding of the genetic variation affecting antigenic expression on the red blood cell surface in many populations is lacking. This deficit limits the ability to accurately type patients, especially as serological testing is not available for all described blood groups, and targeted genotyping panels may lack rare or population-specific variants. Here, we perform serological assays across 24 antigens and whole genome sequencing on 100 Omanis, a population underrepresented in genomic databases.
View Article and Find Full Text PDFObjectives: Strokes are a major cause of morbidity and mortality. This study aimed to evaluate the effectiveness of routine cardiac investigations in identifying a cardioembolic aetiology for ischaemic strokes.
Methods: This retrospective study involved patients who presented with a stroke to the Sultan Qaboos University Hospital, Muscat, Oman, between January and December 2019.
Article Synopsis
- Kikuchi-Fujimoto disease (KFD) is a self-limiting inflammatory condition with an unclear cause, sometimes occurring in families, and linked to defects in complement proteins C1q and C4.
- In a case study, a 16-year-old Omani boy from a consanguineous family was found to have typical KFD features and a novel mutation in the C1S gene affecting the classical complement pathway.
- This research establishes the first known connection between a deficiency in the C1s component and the occurrence of Kikuchi-Fujimoto disease.
Article Synopsis
- Early diagnosis of inborn errors of immunity (IEIs) is essential due to high risks of illness and death; this study focused on Omani patients to identify genetic causes and survival rates of IEIs.
- Over 17 years, 185 Omani patients were evaluated, revealing that most had genetic diagnoses related to immunity problems, with common symptoms like respiratory infections and developmental issues.
- The study found that a significant percentage of patients had autosomal recessive genetic defects, and the overall survival rate was 75.1%, indicating potential for improved management and outcomes through earlier detection.*
Background: Busulfan (Bu) is an alkylating drug used in many preparative regimens before hematopoietic stem cell transplantation (HSCT). It is conjugated in the liver mainly by glutathione S-transferase isoenzyme A1-1 ( GSTA1 ). Genetic polymorphisms in these isoenzymes may affect the pharmacokinetics of Bu and the clinical outcomes of HSCT.
View Article and Find Full Text PDFBackground And Objectives: Blood group genotyping has been used in different populations. This study aims at evaluating the genotypes of common blood group antigens in the Omani blood donors and to assess the concordance rate with obtained phenotypes.
Material And Methods: Blood samples from 180 Omani donors were evaluated.