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Compound heterozygous mutations (p.L68R∗37 and p.T241N) lead to abnormal protein levels and structures in hereditary FVII deficiency.
Blood Coagul Fibrinolysis
December 2024
Department of Hematology, The Second Affiliated Hospital, Chongqing Medical University, Jiangnan, Chongqing, China.
Background: Congenital factor VII (FVII) deficiency is a genetic disorder characterized by decreased FVII activity, which sometimes leads to fatal bleeding. Numerous variants have been found in FVII deficiency, but mutations vary among patients. Each mutation deserves further exploration for each patient at risk of bleeding.
View Article and Find Full Text PDFRetrospective detection of ITGB7 gene mutation in a Holstein calf with chronic diarrhea that was suspected of hereditary cholesterol deficiency.
J Vet Med Sci
January 2025
Department of Veterinary Science, Obihiro University of Agriculture and Veterinary Medicine.
A homozygous individual for ITGB7 gene mutation, an autosomal recessive congenital disorder in Holstein cattle, was retrospectively identified by genotyping of 195 stored blood from patients less than 12 months of age. Other 24 patients (12.3%) showed heterozygous.
View Article and Find Full Text PDFApolipoprotein E (APOE) has multiple functions in metabolism and immunoregulation. Its common germline variants APOE2, APOE3 and APOE4 give rise to three functionally distinct gene products. Previous studies reported yin-yang roles of APOE2 and APOE4 in immunological processes, but their effects in hematopoietic stem cell transplantation (HSCT) have never been studied.
View Article and Find Full Text PDFValidating and utilizing dried blood spots for family screening: Screening Programme Providing Outreach for Testing Hereditary Angioedema (SPPOT-HAE).
J Allergy Clin Immunol Glob
February 2025
Division of Rheumatology & Clinical Immunology, Department of Medicine, Queen Mary Hospital, Hong Kong.
Background: Hereditary angioedema (HAE) is a rare genetic disorder with potentially life-threatening consequences, traditionally diagnosed by conventional laboratory methods that can be resource intensive and inconvenient. Incorporating dried blood spot (DBS) tests may be a promising alternative for diagnosing HAE and family screening.
Objective: This study aimed to validate DBS with conventional laboratory assays among confirmed C1 esterase inhibitor (C1-INH) HAE patients and assess the utility of DBS in a Screening Programme Providing Outreach for Testing Hereditary Angioedema (SPPOT-HAE).
Should a history of venous thromboembolism be considered a contraindication for scuba diving?
Res Pract Thromb Haemost
January 2025
Hematology Department, Assistance Publique - Hôpitaux de Paris-Centre Université de Paris, Paris, France.
The question of whether scuba diving is safe for patients with a history of venous thromboembolism (VTE) remains unanswered. Cases of VTE have been reported after decompression accidents but not following properly conducted dives. However, the risk of VTE and bleeding on anticoagulant therapy during diving has yet to be defined.
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