Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST).

Background: In Fabry disease, progressive glycolipid accumulation leads to damage in kidney and other organs. This study was designed to determine the prevalence rate of Fabry disease in Japanese dialysis patients.

Methods: All dialysis patients agreeing to Japan Fabry disease screening study (J-FAST) with informed consent were selected except for Fabry disease.

Integrating common and rare genetic variation in diverse human populations.

Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide studies that fully examine less common alleles in populations with a wide range of ancestry. To inform the design and interpretation of such studies, we genotyped 1.

Curvature of cervical vertebra in 8020 achievers observed by lateral cephalogram.

The hypothesis of this research was that elderly people with many remaining teeth and good occlusion (8020 achievers) would be able to maintain proper head and body posture, despite aging. The purpose of this study, as a first stage, was to clarify the aging phenomenon of cervical curvature in 8020 achievers in comparison with that in young adults. Subjects consisted of twenty-eight 8020 achievers, with a mean age of 82.

A second generation human haplotype map of over 3.1 million SNPs.

We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25-35% of common SNP variation in the populations surveyed. The map is estimated to capture untyped common variation with an average maximum r2 of between 0.

Community engagement and informed consent in the International HapMap project.

The International HapMap Consortium has developed the HapMap, a resource that describes the common patterns of human genetic variation (haplotypes). Processes of community/public consultation and individual informed consent were implemented in each locality where samples were collected to understand and attempt to address both individual and group concerns. Perceptions about the research varied, but we detected no critical opposition to the research.

Genetic health care services, present and near future in Japan.

A critical review from standpoints of ethical, legal and social implications (ELSI) is required to properly develop and distribute genetic services, including genetic testing. In addition to assure analytical validity, clinical validity and clinical utility of the testing, public opinion and perceptions of the community regarding implementation of the testing are important for obtaining informed consent prior to testing. Otherwise, the testing could be done on only limited numbers of community members.

Oral flora in independent over 80-year-olds with more than 20 teeth.

The purpose of this study was to investigate oral flora in independent persons aged over 80 years with more than 20 remaining teeth. The subjects were 22 participants of the 8020 campaign (6 males and 16 females) with a mean age of 81.3+/-1.

Bioethical considerations in neonatal screening: Japanese experiences.

Since 1979, at least 13,000 affected babies have been identified with one of the tested diseases. The outcome for patients is generally favorable if adequate treatment is given. Recently, ethical issues have arisen concerning whether or not written informed consent should be required, under what conditions the residual blood spot may be used for research purposes other than that originally designed, and whether or not the test is cost-effective.

Clinical manifestations of inborn errors of the urea cycle and related metabolic disorders during childhood.

Various disorders cause hyperammonemia during childhood. Among them are those caused by inherited defects in urea synthesis and related metabolic pathways. These disorders can be grouped into two types: disorders of the enzymes that comprise the urea cycle, and disorders of the transporters or metabolites of the amino acids related to the urea cycle.

Dyslipidemia in young Japanese children: its relation to familial hypercholesterolemia and familial combined hyperlipidemia.

Background: Most cases of dyslipidemia found in adults are non-familial. However, in children, especially young children, dyslipidemias other than familial hypercholesterolemia (FH) have not yet been characterized.

Methods: From April 1990 to March 1999, 56 181 children were screened, and 1380 showed abnormal levels of apolipoprotein B (more than 2.

A mouse model of renal tubular injury of tyrosinemia type 1: development of de Toni Fanconi syndrome and apoptosis of renal tubular cells in Fah/Hpd double mutant mice.

Hereditary tyrosinemia type 1 (HT1) (McKusick 276700), a severe autosomal recessive disorder of tyrosine metabolism, is caused by mutations in the fumarylacetoacetate hydrolase gene Fah (EC 3.7.1.