Biochem Biophys Res Commun
April 2022
Familial amyloidotic polyneuropathy (FAP) is caused by a mutation in the transthyretin (TTR) gene. In addition, deposition of wild-type TTR can cause senile systemic amyloidosis (SSA). To date, we have produced several transgenic mouse models for FAP and SSA by introducing TTR genes with different promoters or mutations.
View Article and Find Full Text PDFWe report 3 cases of extrapulmonary lymphangioleiomyomatosis incidentally found in pelvic and paraaortic lymph nodes in association with uterine cancers. Three women, 47-year-old, 59-year-old, and 71-year-old, respectively, had uterine cancers and underwent hysterectomy, bilateral salpingo-oophorectomy, and pelvic and paraaortic lymph node excision. None of the 3 patients had tuberous sclerosis complex or lymphangioleiomyomatosis in other organs.
View Article and Find Full Text PDFBudd-Chiari syndrome is a rather unusual clinical situation caused by occlusion of the hepatic vein of inferior vena cava, the classical triad of which are abdominal pain, ascites and hepatomegaly. A 29-year-old gravida 3 para 1 woman delivered an immature male baby weighing 2172 g with an Apgar score of 9 points at 35 weeks and 3 days of gestation. She was transferred to the National Hospital Organization Osaka National Hospital 112 days after delivery due to the sudden development of massive ascites.
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