Congenital factor V deficiency in Taiwan: identification of a novel variant p.Tyr1813 ∗ and two variants specific to East Asians.

Congenital coagulation factor V deficiency (FVD) is a rare, autosomal recessive bleeding disorder. We characterized the clinical presentations, laboratory features, and genetic alterations of Taiwanese patients with FVD. From 1983 to 2010, five women, one man, and one boy diagnosed with FVD were enrolled in this study.

Characterization of congenital factor XII deficiency in Taiwanese patients: identification of one novel and one common mutation.

Background: Factor XII (FXII) deficiency is an interesting condition that causes prolonged activated partial thromboplastin time without bleeding diathesis. FXII may be not important in hemostasis, but still plays roles in thrombosis and inflammation. In order to raise clinical awareness about this condition, we studied patients with severe FXII deficiency and their relatives.

Clinical features and genetic defect in six index patients with congenital fibrinogen disorders: Three novel mutations with one common mutation in Taiwan's population.

Introduction: Congenital fibrinogen disorders (CFDs) are caused by mutations in fibrinogen-encoding genes, FGA, FGB, and FGG, which lead to quantitative or qualitative abnormalities of fibrinogen. Although the diagnosis of CFDs is based on antigenic and functional level of fibrinogen, few genotypes are clearly correlated with phenotype.

Methods: In this study, we investigated all of the referred patients diagnosed as CFDs in Taiwan's population between 1995 and 2020.

Relationships between depression and anxiety symptoms and adipocyte-derived proteins in postmenopausal women.

Introduction: Studies on the association between adiponectin and leptin and anxiety and depression among postmenopausal women are limited. Therefore, the present study specifically evaluates the mutual relationships between adiponectin and leptin and anxiety and depression in postmenopausal women.

Participants And Design: In this cross-sectional study, a total of 190 women aged 40-65 years were enrolled.

Relationships between Follicle-Stimulating Hormone and Adiponectin in Postmenopausal Women.

Beyond fertility, follicle-stimulating hormone (FSH) may exert action on adipocytes, which are the major source of adiponectin and leptin, linking to insulin resistance. Therefore, we evaluated the relationships between FSH and adipocyte-derived hormones. This cross-sectional study enrolled postmenopausal women aged 40-65 years.

Segmental uniparental disomy as a rare cause of congenital severe factor XIII deficiency in a girl with only one heterozygous carrier parent.

Uniparental disomy (UPD) refers to a situation when a person inherits both homologs of a region or complete part of a chromosome from only one parent. Here, we present an unusual case of UPD in congenital severe factor (F) XIII deficiency. A 6-year-old girl experienced cephalhematoma and umbilical bleeding after birth and easy bruising, and postextraction bleeding since early infancy.