Results 21 to 30 of about 129,927 (262)
Enzymatic insights into an inherited genetic disorder
eLife, 2017 Mutations in an enzyme involved in protein degradation affect a signaling pathway that stimulates the development of the digestive tract.
Liping Zhang, Kelly G Ten Hagen
doaj +1 more source
Diagnosis of Brugada Syndrome, a Rare Inherited Arrhythmogenic Disorder
Dubai Medical Journal, 2020 Brugada syndrome (BrS) is a rare, autosomal dominant genetic disorder with mutation in the SCN5A gene. It is associated with an increased risk of arrhythmias and sudden cardiac death.
Juwairiya Syed Iqbaluddin +2 more
doaj +1 more source
HOW FREQUENT ARE CONSANGUINEOUS MARRIAGES?
Journal of the Dow University of Health Sciences, 2008 Objective: To determine the frequency of consanguineous marriages in parents and grand parents of alladmitted children in a pediatric unit Design: An observational study.
D. S. Akram, Fehmina Arif, Jabeen Fayyaz
doaj +4 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Primary cutaneous anaplastic large cell lymphoma (pcALCL) is a rare pediatric CD30‐positive T‐cell lymphoproliferative disorder with an excellent prognosis, but its genomic drivers are poorly defined. We report three children with skin‐limited disease demonstrating striking molecular heterogeneity, including NPM::ALK, NUP214::FRK, and a novel ...
Shoshana Greenberger +7 more
wiley +1 more source
Thalassemia and hemoglobinopathy prevalence in a community-based sample in Sylhet, Bangladesh
Orphanet Journal of Rare Diseases, 2023 Background Inherited blood disorders affect 7% of the population worldwide, with higher prevalences in countries in the “thalassemia belt,” which includes Bangladesh.
Amanda S. Wendt +5 more
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Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Fertility preservation (FP) is increasingly integrated into the care of pediatric patients exposed to gonadotoxic therapy or conditioning for hematopoietic stem cell transplantation (HSCT), yet perioperative data in infants and toddlers remain scarce.
Kerstin Saalabian +13 more
wiley +1 more source
Bleeding risk of surgery and its prevention in patients with inherited platelet disorders
Haematologica, 2017 Excessive bleeding at surgery is a feared complication in patients with inherited platelet disorders. However, very few studies have evaluated the frequency of surgical bleeding in these hemorrhagic disorders.
Sara Orsini +35 more
doaj +1 more source
International Journal of Neonatal Screening, 2021 Sickle cell disease (SCD) is a severe non-malignant disorder of hemoglobin and is inherited in an autosomal-recessive manner [...]
Stephan Lobitz +7 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Type 1 plasminogen deficiency (PLGD‐1) is an ultra‐rare autosomal recessive disorder caused by variants in the PLG gene and affects approximately 1.6 individuals per million. The condition is characterized by decreased plasminogen levels and impaired function, resulting in fibrin‐rich lesions on mucous membranes throughout the body.
Charles Nakar +7 more
wiley +1 more source
The utility of flow cytometric platelet forward scatter as an alternative to mean platelet volume
Platelets, 2022 The use of mean platelet diameter (MPD) to classify inherited thrombocytopenia (IT) has been demonstrated in several studies. Alternatively, the mean platelet volume (MPV) may be used, but in macrothrombocytopenia this may not be available.
David Connor +12 more
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