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Jul 29, 2024 | 
link.springer.com | Sidra Medicine |RWTH Aachen
AbstractHomozygous mutations in RFX6 lead to neonatal diabetes accompanied by a hypoplastic pancreas, whereas heterozygous mutations cause MODY. Recent studies have also shown RFX6 variants to be linked with type 2 diabetes. Despite RFX6’s known function in islet development, its specific role in diabetes pathogenesis remains unclear.
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May 18, 2024 | 
link.springer.com | Sidra Medicine
AbstractThe study of the functional genome in mice and humans has been instrumental for describing the conserved molecular mechanisms regulating human reproductive biology, and for defining the etiologies of monogenic fertility disorders. Infertility is a reproductive disorder that includes various conditions affecting a couple’s ability to achieve a healthy pregnancy.
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May 14, 2024 | 
link.springer.com | Sidra Medicine |Istituto Giannina Gaslini |Paris Sorbonne Cité
AbstractAchondroplasia is a lifelong condition requiring lifelong management. There is consensus that infants and children with achondroplasia should be managed by a multidisciplinary team experienced in the condition. However, many people are lost to follow-up after the transition from paediatric to adult care, and there is no standardised approach for management in adults, despite the recent availability of international consensus guidelines.
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Apr 29, 2024 | 
academic.oup.com | Sidra Medicine
We read with great interest the article by Deress et al,1 in which data recorded in the laboratory logbooks over a 2-year period in a university tertiary-care hospital in Ethiopia were analyzed to establish trends in specimen rejection rates and causes of potential rejection.
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Apr 21, 2024 | 
bmcnephrol.biomedcentral.com | Sidra Medicine
ReferencesAllanson JE, Pantzar JT, Macleod PM. Possible new autosomal recessive syndrome with unusual renal histopathological changes. Am J Med Genet. 1983;16(1):57–60. Article CAS PubMed Google Scholar Tseng M-H, Huang S-M, Huang J-L, Fan W-L, Konrad M, Shaw SW, et al. Autosomal Recessive Renal Tubular Dysgenesis Caused by a Founder Mutation of Angiotensinogen. Kidney Int Rep. 2020;5(11):2042–51.
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Feb 12, 2024 | 
rbej.biomedcentral.com | Sidra Medicine
We conducted an observational study of women who underwent oocyte retrieval for PGT-A treatment cycle with at least one biopsied blastocyst, between January 2017 and December 2021 at a university-affiliated public hospital (Department of Assisted Reproduction at the Woman Wellness Research Center) in Qatar.
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Feb 1, 2024 | 
bmcpediatr.biomedcentral.com | Sidra Medicine
In this single-center retrospective observational study, we reviewed the data of patients admitted to Sidra Medicine, the main children’s hospital in Doha, Qatar, during all winter seasons (September to April) between 2019 and 2023.
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Aug 16, 2023 | 
bmcpediatr.biomedcentral.com | Sidra Medicine
This is a cross-sectional descriptive study that covered ten public and private schools in Qatar distributed in the capital of Qatar, Doha, at its suburbs. After obtaining ethical approval from Hamad Medical Corporation Ethics Committee and the Supreme Education Council Research Office, all of schools in Qatar were emailed with study aims and design and 10 school principals’ showed willingness to participate in the study.
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Jul 19, 2023 | 
ashpublications.org | Morsani College |Sidra Medicine |Weill Cornell Medicine-Qatar |Paris Sorbonne Cité
TO THE EDITOR:
The recombination-activating genes (RAG1 and RAG2) encode lymphoid-specific proteins responsible for initiation of the V(D)J recombination process, which is critical for the early development of T and B cells.1 The clinical and immunological phenotypes of patients with RAG deficiency are remarkably diverse, varying from severe combined immunodeficiency (SCID) to delayed onset combined immunodeficiency with granulomatous disease and/or autoimmunity (CID-G/AI).
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Jun 15, 2023 | 
bmcbioinformatics.biomedcentral.com | Sidra Medicine
Several tools are available for data analysis in metabolomics. The tools required for highly intricate metabolomics data analysis should be able to handle the large data size, perform pre-processing steps adequately, conduct statistical methods to identify significantly different metabolites, and provide striking visualization techniques such as heatmaps, correlation and pathway networks.
