Chisato Yamasaki

Analysis of the effect of long-term prophylactic therapy on quality of life in patients with hereditary angioedema: Evidence from a patient-participatory registry

Hayato Mizuno, Daiki Matsubara, Masaya Moriwaki, Anne Beverley Yamamoto et autres

Background: Hereditary angioedema is a rare disorder characterized by recurrent episodes of swelling of the skin and mucous membranes. Since 2021, the introduction of long-term prophylactic therapies in Japan has transformed treatment strategies; however, real-world data on attack frequency and patient-reported quality …

jp, us (code pays fourni par la source)

Survey of hereditary angioedema episodes and quality of life impairment through a patient-participatory registry

Satoshi Morioke, Tatsuki Aikyo, Akio Tanaka, Daiki Matsubara et autres

Hereditary angioedema (HAE) adversely affects patients’ social and daily life significantly, and the disease burden is high. We recruited study participants from a patient-participatory registry, Rare and Undiagnosed Diseases Study (RUDY) Japan, to better understand the broader effect of HAE on patients’ …

jp, gb (code pays fourni par la source)

Enhancing evidence-informed policymaking in medicine and healthcare: stakeholder involvement in the Commons Project for rare diseases in Japan

Atsushi Kogetsu, Moeko Isono, Tatsuki Aikyo, Junichi Furuta et autres

BACKGROUND: Although stakeholder involvement in policymaking is attracting attention in the fields of medicine and healthcare, a practical methodology has not yet been established. Rare-disease policy, specifically research priority setting for the allocation of limited research resources, is an area where evidence …

jp, gb, us (code pays fourni par la source)

Immediate neck hypoalgesic effects of craniocervical flexion exercises and cervical retraction exercises among individuals with non-acute neck pain and a directional preference for retraction or extension: preliminary pretest-posttest randomized experimental design

Hiroshi Takasaki, Chisato Yamasaki

BACKGROUND: Selective deep neck flexor muscle activation through craniocervical flexion exercises has been considered to be different from cervical retraction exercises. OBJECTIVE: To compare the immediate analgesic effect of craniocervical flexion versus cervical retraction exercises in individuals with nonacute, directional preference (DP) …

jp (code pays fourni par la source)

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Heidi L. Rehm, Angela Page, Lindsay Smith, Jeremy Adams et autres

The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular …

us, ca, ch, gb, es, au, qa, hk, cz, at, tw, sg, jp (code pays fourni par la source)

The Data Use Ontology to streamline responsible access to human biomedical datasets

Jonathan Lawson, Moran N. Cabili, Giselle Kerry, Tiffany Boughtwood et autres

Human biomedical datasets that are critical for research and clinical studies to benefit human health also often contain sensitive or potentially identifying information of individual participants. Thus, care must be taken when they are processed and made available to comply with ethical …

us, gb, au, lu, ca, jp, cz, es, Afrique du Sud, fi, fr, de, nl (code pays fourni par la source)

The practice of active patient involvement in rare disease research using ICT: experiences and lessons from the RUDY JAPAN project

Nao Hamakawa, Atsushi Kogetsu, Moeko Isono, Chisato Yamasaki et autres

BACKGROUND: The role of patients in medical research is changing, as more emphasis is being placed on patient involvement, and patient reported outcomes are increasingly contributing to clinical decision-making. Information and communication technology provides new opportunities for patients to actively become involved …

jp, gb, us (code pays fourni par la source)

Establishing the International Genetic Discrimination Observatory

Yann Joly, Gratien Dalpé, Charles Dupras, Bénédicte Bévière-Boyer et autres

ca, fr, ie, gb, tw, hk, dk, jp, kr, es, au, us, in, be, de (code pays fourni par la source)

Selection pressure on human STR loci and its relevance in repeat expansion disease

Makoto Shimada, Ryoko Sanbonmatsu, Yumi Yamaguchi‐Kabata, Chisato Yamasaki et autres

jp, us, sa (code pays fourni par la source)

BioHackathon series in 2011 and 2012: penetration of ontology and linked data in life science domains

Toshiaki Katayama, Mark D. Wilkinson, Kiyoko F. Aoki‐Kinoshita, Shuichi Kawashima et autres

The application of semantic technologies to the integration of biological data and the interoperability of bioinformatics analysis and visualization tools has been the common theme of a series of annual BioHackathons hosted in Japan for the past five years. Here we provide …

jp, es, be, no, ca, ch, it, de, au, gb, us, kr, nl, ie, ru (code pays fourni par la source)

The 3rd DBCLS BioHackathon: improving life science data integration with Semantic Web technologies

Toshiaki Katayama, Mark D. Wilkinson, Gos Micklem, Shuichi Kawashima et autres

BACKGROUND: BioHackathon 2010 was the third in a series of meetings hosted by the Database Center for Life Sciences (DBCLS) in Tokyo, Japan. The overall goal of the BioHackathon series is to improve the quality and accessibility of life science research data …

jp (code pays fourni par la source)

The 3rd DBCLS BioHackathon : Improving life science with semantic web technologies

Toshiaki Katayama, Mark D. Wilkinson, Gos Micklem, Shuichi Kawashima et autres