Maeda K.,General Perinatal Medical Center |
Maeda K.,Tokushima University |
Kaji T.,Tokushima University |
Kasai K.,Tokushima University |
And 3 more authors.
Blood Coagulation and Fibrinolysis | Year: 2015
We present the course of pregnancy and delivery in a patient with congenital dysprothrombinemia. The patient is a 29-year-old nulliparous woman. She was diagnosed with dysprothrombinemia at 10 years of ag. Her course of pregnancy was uneventful. She delivered after prophylactic lyophilized human blood coagulation factor IX complex 800 U was administered. The plasma prothrombin activity was at 24.0% of normal plasma clotting activity. Her postpartum course was uneventful. After 6 years, her course of pregnancy was the same as before. Prophylactic lyophilized human blood coagulation factor IX complex 800 U was administered. Her plasma prothrombin activity was at 26.7%, and she underwent an induced delivery. Her postpartum course was uneventful. It is beneficial to use prophylactic lyophilized human blood coagulation factor IX complex 800 U in pregnancies that are complicated by dysprothrombinemia. The goal of therapy is to maintain prothrombin levels at above 20%. Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved.
Morine M.,General Perinatal Medical Center |
Kohmoto T.,Tokushima University |
Masuda K.,Tokushima University |
Inagaki H.,Health Science University |
And 5 more authors.
American Journal of Medical Genetics, Part A | Year: 2015
Holt-Oram syndrome (HOS) is an autosomal dominant condition characterized by upper limb and congenital heart defects and caused by numerous germline mutations of TBX5 producing preterminal stop codons. Here, we report on a novel and unusual heterozygous TBX5 microdeletion with microinsertion (microindel) mutation (c.627delinsGTGACTCAGGAAACGCTTTCCTGA), which is predicted to synthesize a truncated TBX5 protein, detected in a sporadic patient with clinical features of HOS prenatally diagnosed by ultrasonography. This uncommon and relatively large inserted sequence contains sequences derived from nearby but not adjacent templates on both sense and antisense strands, suggesting two possible models, which require no repeat sequences, causing this complex microindel through the bypass of large DNA adducts via an error-prone DNA polymerase-mediated translesion synthesis. © 2015 Wiley Periodicals, Inc.