Suppressive effect of vitamin K (menatetrenone) against bone mineral density loss after radiotherapy in uterine cancer patients.

Purpose: This study aimed to investigate whether vitamin K (menatetrenone) suppresses bone mineral density (BMD) loss in the irradiated region after radiotherapy (RT) in uterine cancer patients.

Materials And Methods: Our study included 34 patients who underwent whole pelvic irradiation for uterine cancer between 2001 and 2010. The patients were categorized in two groups: (1) Vitamin K (45 mg/day) administration group (group A) with 18 cases and (2) non-administered group (group B) with 16 cases.

Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan.

The management of secondary findings (SFs), which are beyond the intended purpose of the analysis, from clinical comprehensive genomic analysis using next generation sequencing (NGS) presents challenges. Policy statements regarding their clinical management have been announced in Japan and other countries. In Japan, however, the current status of and attitudes of clinical genetics professionals toward reporting them are unclear.

Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan.

Genome editing of the human embryo using CRISPR/Cas9 has the potential to prevent hereditary diseases from being transmitted to the next generation. However, attitudes to this technology have not been examined sufficiently among the genetic professionals who will use it in the near future. We conducted a questionnaire survey of Japanese clinical geneticists and certified genetic counselors.

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Viruses that are typically benign sometimes invade the brainstem in otherwise healthy children. We report bi-allelic DBR1 mutations in unrelated patients from different ethnicities, each of whom had brainstem infection due to herpes simplex virus 1 (HSV1), influenza virus, or norovirus. DBR1 encodes the only known RNA lariat debranching enzyme.

A survey on awareness of genetic counseling for non-invasive prenatal testing: the first year experience in Japan.

The purpose of this study is to summarize the results from a survey on awareness of genetic counseling for pregnant women who wish to receive non-invasive prenatal testing (NIPT) in Japan. As a component of a clinical study by the Japan NIPT Consortium, genetic counseling was conducted for women who wished to receive NIPT, and a questionnaire concerning both NIPT and genetic counseling was given twice: once after pre-test counseling and again when test results were reported. The responses of 7292 women were analyzed.

[Postpartum hemorrhage successfully treated with recombinant factor VIIa in Glanzmann thromboasthenia].

Glanzmann thrombasthenia is an inherited hemorrhagic disorder characterized by severe reduction or absence of platelet aggregation in response to multiple physiologic agonists due to qualitative or quantitative abnormalities of platelet glycoprotein (GP) IIb/IIIa. Treatment of bleeding episodes may require platelet transfusion. However, repeated platelet transfusions may result in GPIIb/IIIa and/or HLA immunization, and development of platelet refractoriness.

No correlation between the number of fetal nucleated cells and the amount of cell-free fetal DNA in maternal circulation either before or after delivery.

Objectives: We have determined the number of fetal nucleated cells and the concentration of cell-free fetal DNA in parallel in the same maternal blood samples either before or after delivery, and studied the relationship between these two.

Methods: Venous blood samples were taken at four points around delivery from ten women who had singleton male fetus with informed consent. The number of fetal nucleated cells having a Y chromosome specific signal treated by two-color fluorescence in situ hybridization technique was counted using maternal whole blood.

Increased plasma mRNAs of placenta-specific 1 (PLAC1) and glial cells-missing 1 (GCM1) in mothers with pre-eclampsia.

In this study we have investigated whether quantitative analysis of placental mRNAs in maternal plasma provides a way to monitor placental status. We measured plasma concentrations of human chorionic gonadotropin beta-subunit (betahCG) and human placental lactogen (hPL) mRNAs as previously reported mRNAs and pregnancy associated plasma protein A (PAPP-A), placenta-specific 1 (PLAC1) and glial cells-missing 1 (GCM1) mRNAs, which have not been measured during the course of normal pregnancy. Firstly, peripheral blood was obtained at various times from healthy pregnant women to clarify the time course of placental mRNAs.