Results 101 to 110 of about 41,376 (260)

Familial Mediterranean Fever: Perspective and Round on Uncertainties

open access: yesDubai Medical Journal
Introduction: Familial Mediterranean fever (FMF) is a hereditary periodic fever characterized by its autosomal recessive nature. The complexity of its presentation and response to treatment poses significant challenges in diagnosing and managing FMF ...
Haifa Ali Bin Dahman   +2 more
doaj   +1 more source

Recombinant Human Thrombopoietin Reduces the Need for Platelet Transfusion in Patients With Chronic Liver Disease and Thrombocytopenia

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Chronic liver disease (CLD)‐related thrombocytopenia can limit the feasibility of invasive procedures. Recombinant human thrombopoietin (rhTPO) has demonstrated a favorable safety profile without hepatotoxicity. We evaluated the efficacy and safety of rhTPO in patients with CLD‐related thrombocytopenia who were undergoing elective invasive ...
Yifan Han   +45 more
wiley   +1 more source

The Role of Serum Zinc, Iron, Magnesium, and Selenium Levels in the Pathogenesis of PFAPA Syndrome

open access: yesArchives of Basic and Clinical Research
Objective: To investigate the potential role of zinc, iron, magnesium, and selenium in the pathogenesis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA) syndrome.
Fatma Atalay, Murat Yaşar
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu   +23 more
wiley   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen   +8 more
wiley   +1 more source

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