Identification of Novel and Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age.

Background: Maturity-onset diabetes of the young (MODY) is commonly misdiagnosed as type 1 or type 2 diabetes. Common reasons for misdiagnosis are related to limitations in genetic testing. A precise molecular diagnosis is essential for the optimal treatment of patients and allows for early diagnosis of their asymptomatic family members.

Clinical and genetic analysis in a family with familial renal glucosuria: Identification of an N101K mutation in the sodium-glucose cotransporter 2 encoded by a solute carrier family 5 member 2 gene.

We report the identification of a mutation in the solute carrier family 5 member 2 (SLC5A2) gene, which encodes sodium-glucose cotransporter 2, in a family with familial renal glucosuria. The proband was a 26-year-old Japanese man referred to the diabetes division with repeated glucosuria without hyperglycemia. His mother, uncle and grandfather also had a history of glucosuria.

Research ethics consultation: an attempt and 5-year experience in a Japanese University Hospital.

Objective: Research ethics consultation is an advisory activity that differs from ethics committees, and its role is not yet widely known in Japan. Research ethics consultations were started in 2012 by members of the Clinical Trial Center of Tokushima University Hospital, a support section for clinical trials. We analyzed the research ethics consultation records from Tokushima University Hospital during the 5-year period of 2012-2016 to examine the Japanese context of research ethics consultation.

Japanese Physicians' Views on Drug Post-Marketing Surveillance.

Background: Registration trials leading to the approval of drugs are paramount in drug development. After approval, continuous efforts are necessary to ensure proper use of the approved drugs. In Japan, post-marketing surveillance (PMS) by drug companies is conducted in accordance with good post-marketing study practice (GPSP).

Research ethics committees in Japan: A perspective from thirty years of experience at Tokushima University.

The first Japanese ethics committee for biomedical research involving human subjects was established at Tokushima University in 1982. Although this committee was not formed as a response to national directives, the government eventually developed ethical guidelines, such as the Ethical Guidelines for Clinical Studies that were established in 2003. The practical impact of such guidelines was a rapid increase in the number of protocols seeking ethics committee approval and, accordingly, an increase in the workload of ethics committees.

Present status of Japanese ethics committees: a survey in Tokushima Prefecture.

Clinical research is important to improve medical quality, and ethics review is essential to conduct clinical research. Since the establishment of the first Japanese ethics committee at the University of Tokushima in 1982, Japanese ethics committees have increased. In this study, we surveyed the status of clinical studies and ethics committees in one Japanese region.

Nurse awareness of clinical research: a survey in a Japanese University Hospital.

Background: Clinical research plays an important role in establishing new treatments and improving the quality of medical practice. Since the introduction of the concept of clinical research coordinators (CRC) in Japan, investigators and CRC work as a clinical research team that coordinates with other professionals in clinical trials leading to drug approval (registration trials). Although clinical nurses collaborate with clinical research teams, extended clinical research teams that include clinical nurses may contribute to the ethical and scientific pursuit of clinical research.

Serious adverse events and compensation in registration trials: a review of data from a Japanese university hospital.

Background: Clinical trials leading to regulatory approval, or registration trials, play a central role in the development of drugs and medical devices. The contribution of support staff, such as the clinical research coordinator (CRC) and administrative officers, in registration trials is now widely recognized. Attending to serious adverse events is an important duty of the CRC and investigators alike, and managing these complications and compensation constitutes a key responsibility.

Participant preferences for the provision of registration trials results.

Background: Clinical trials leading to drug approval (registration trials) play a central role in the drug development process, and attention has recently been paid to providing trial results to participants. In the present study, we examined the preferences of participants of registration trials for the provision of trial-related information.

Methods: We used questionnaires to survey the preferences of registration trial participants at Tokushima University Hospital and Tokushima National Hospital.

Association of single-nucleotide polymorphisms in the suppressor of cytokine signaling 2 (SOCS2) gene with type 2 diabetes in the Japanese.

Several previous linkage scans in type 2 diabetes (T2D) families indicated a putative susceptibility locus on chromosome 12q15-q22, while the underlying gene for T2D has not yet been identified. We performed a region-wide association analysis on 12q15-q22, using a dense set of >500 single-nucleotide polymorphisms (SNPs), in 1492 unrelated Japanese individuals enrolled in this study. We identified an association between T2D and a haplotype block spanning 13.

Effect of polymer matrix and glycerol on rapid single-strand conformation polymorphism analysis by capillary and microchip electrophoresis for detection of mutations in K-ras gene.

We present the rapid single-strand conformation polymorphism (SSCP) analysis by capillary and microchip electrophoresis to detect the mutations in K-ras gene. Parameters that might affect the analysis of mutation in K-ras gene, such as the polymer and the additive in the sieving matrix, have been studied systematically. Under the optimal conditions, the analysis of seven mutants of K-ras gene could be finished within 10 min by capillary electrophoresis (CE).