Clinical course and genetic analysis of a case of the amniocentesis showing chromosome 6 trisomy mosaicism.

Objective: Herein, we present a case of mosaic trisomy 6 detected by amniocentesis.

Case Report: Amniocentesis (G-banding) was performed at 17 weeks of gestation; the results were 47,XY,+6[3]/46,XY[12]. Fetal screening ultrasonography showed no morphological abnormalities, and the parents desired to continue the pregnancy.

Loeys-Dietz syndrome with a novel in-frame SMAD3 deletion diagnosed as a result of postpartum aortic dissection: A case report.

Objective: Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant connective tissue disorder which can aggressively affect the aortic vasculature. Limited information is available regarding its impact on pregnancy and postpartum outcomes.

Case Report: A pregnant 38-year-old nulliparous woman with mild aortic regurgitation and family history of aortic aneurysms presented with an aortic root measuring 49 mm.

Congenital segmental dilatation of the intestine in a neonate.

A woman in her 30s at 29 weeks of gestation was diagnosed with a fetal abdominal cyst and polyhydramnios. As the cyst gradually increased in size, an elective caesarean section was performed at 38 weeks of gestation. The neonate experienced respiratory distress due to tense abdominal distension shortly after birth.

Pertussis, diphtheria, and tetanus antibodies seroprevalence in pregnant women and neonates, as a preliminary data for introduction of preconception or prenatal DTaP vaccination among Japanese society.

An increasing number of countries have been introducing acellular pertussis vaccination during pregnancy for the prevention of neonatal pertussis. In response to the fact that infantile pertussis cases of 0-5 months age groups remained unchanged despite the universal vaccination program, prenatal pertussis vaccination has been a rising issue in Japan. Hence, we investigated the seroprevalence of pertussis, diphtheria, and tetanus antibodies in Japanese pregnant women and neonates, and evaluated the necessity of diphtheria-tetanus-acellular pertussis (DTaP) vaccination during the preconception or prenatal period.

Mechanisms involved in suppression of osteoclast supportive activity by transforming growth factor-β1 via the ubiquitin-proteasome system.

Orthodontic treatment requires the regulation of bone remodeling in both compression and tension sides. Transforming growth factor-β1 (TGF-β1) is an important coupling factor for bone remodeling. However, the mechanism underlying the TGF-β1-mediated regulation of the osteoclast-supporting activity of osteoblasts and stromal cells remain unclear.

Restoration of keratinocytic phenotypes in autonomous trisomy-rescued cells.

Background: An extra copy of chromosome 21 in humans can alter cellular phenotypes as well as immune and metabolic systems. Down syndrome is associated with many health-related problems and age-related disorders including dermatological abnormalities. However, few studies have focused on the impact of trisomy 21 (T21) on epidermal stem cells and progenitor cell dysfunction.

Safety assessment of the prophylactic use of silicone gel sheets (Lady Care) for the prevention of hypertrophic scars following caesarean section.

This study aimed to investigate the side effects of silicone gel sheet (Lady Care) and evaluate its prophylactic efficacy in preventing abnormal scarring. Sixty women who underwent caesarean section were recruited from September 2016 to September 2017 in this prospective study. Lady Care was applied from the 2nd to the 6th postoperative months.

Readministration of Platinum Agents in Recurrent Ovarian Cancer Patients Who Developed Hypersensitivity Reactions to Carboplatin.

Background/aim: Hypersensitivity reactions (HSRs) to carboplatin, a key drug for ovarian cancer patients, are problematic. The aim of this study was to evaluate the efficacy and safety of readministration of platinum agents (PTs) in recurrent ovarian cancer patients who developed HSRs to carboplatin.

Patients And Methods: Thirty-one patients with recurrent ovarian cancer who developed HSRs to carboplatin were divided into those who continued to receive PTs in the following cycle (continuation group, n=24) and those in whom either the drug was switched to non-platinum agents (non-PTs) or chemotherapy was ended (discontinuation group, n=7).

Amnion-derived cells as a reliable resource for next-generation regenerative medicine.

The placenta is composed of the amnion, chorionic plate, villous and smooth chorion, decidua basalis, and umbilical cord. The amnion is a readily obtainable source of a large number of cells and cell types, including epithelium, mesenchyme, and endothelium, and is thus an allogeneic resource for regenerative medicine. Endothelial cells are obtained from large arteries and veins in the amniotic membrane as well as the umbilical cord.

Autonomous trisomic rescue of Down syndrome cells.

Down syndrome is the most frequent chromosomal abnormality among live-born infants. All Down syndrome patients have mental retardation and are prone to develop early onset Alzheimer's disease. However, it has not yet been elucidated whether there is a correlation between the phenotype of Down syndrome and the extra chromosome 21.

Clinical and genetic analysis of recurrent adult-type granulosa cell tumor of the ovary: Persistent preservation of heterozygous c.402C>G FOXL2 mutation.

Background: Adult-type granulosa cell tumors of the ovary (aGCTs) are rare tumors that represent 2-5% of ovarian malignancies. The prognosis of this tumor is favorable, and it is characterized by slow progression. 10-30% of these tumors recur after 4-7 years of the primary surgery and the 5-year survival rate from the first recurrence is 55%, for the incompletely resected patients.

Concurrent high-grade serous carcinoma and borderline tumor demonstrating different chemo-sensitivity.

Ovarian high-grade serous adenocarcinoma responds well to regular platinum/taxane chemotherapy, while borderline tumor survives and demonstrates persistent disease. A 69-year-old Japanese woman was suspected for having advanced ovarian carcinoma. MRI showed cystic tumor containing solid component of the right adnexal region with massive ascites and peritoneal dissemination.