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Elevated blood 17alpha-hydroxyprogesterone (17OHP) level, although widely used for the screening of classical 21-hydroxylase deficiency (21OHD) in neonates, has frequently been found in some neonates without classical 21OHD, particularly preterm neonates. We studied the diagnostic value of the metabolite of 21-deoxycortisol (pregnanetriolone, Ptl) and the(More)
Alström syndrome is an autosomal recessive disorder (MIM No. *203800) characterized by retinal degeneration, obesity, deafness, noninsulin-dependent diabetes mellitus, and nephropathy. We report two sibs with Alström syndrome and hepatic dysfunction. The first sib developed elevations in liver enzymes at 29 years of age. Liver biopsy showed fatty liver,(More)
The role of systemic and local insulin-like growth factor I (IGF-I) in the development of prostate cancer is still controversial. Transgenic adenocarcinoma mouse prostate (TRAMP) mice express the SV40 T-antigen under the control of the probasin promoter, and spontaneously develop prostate cancer. We crossed TRAMP mice with liver IGF-deficient (LID) mice to(More)
Animal models have established the IGF-I signaling pathway as a key modulator of aging in rodents and invertebrates. Considerable evidence suggests that reduced exposure of tissue to IGF-I is associated with an extended lifespan in these species. In humans, IGF-I is linked to various age-related diseases that are limiting factors for youthful longevity. On(More)
IGF binding protein-1 (IGFBP-1) inhibits the mitogenic actions of the IGFs. Circulating IGFBP-1 is elevated in newborns and experimental animals with fetal growth restriction (FGR). To establish a causal relationship between high circulating IGFBP-1 and FGR, we have generated transgenic mice using the mouse alpha-fetoprotein gene promoter to target(More)
UNLABELLED The aim of this study was to derive the mean and +/-1, 2 and 2.5 SD body mass index (BMI) reference ranges as a supplement to the BMI centile reference values published previously for the same group of Japanese children. It is based on 14,012 boys and 13,781 girls of 1.5-18.5 years of age as studied in 1978-1981. The LMS method was utilized for(More)
We describe two siblings with X-linked hyper-IgM immunodeficiency. One patient developed disseminated cryptococcosis. Co-culture of this patient's T cells with normal B cells suppressed IgG and IgA production. The CD40 ligand gene of one patient was examined and contained a nonsense mutation at nucleotide 475. CD40 ligand is a membrane protein which is(More)
BACKGROUND The prevalence of overweight among Japanese children and adolescents has steadily increased during the last 20 years. Thus, we utilized the 1978-1981 data collected by the Japanese Ministry of International Trade and Industry to construct reference curves of body mass index (BMI) for contemporary Japanese children and adolescents. METHODS BMI(More)
OBJECTIVE The purpose of this study is to construct the cross-sectional head circumference growth curves, intended for clinical use, for the Japanese from birth to 18 years of age. SUBJECTS AND METHODS Two sets of the national survey data on head circumference and height were utilized for the study: (1) The 1990 data collected by the Japanese Ministry of(More)
Diagnosis of GH deficiency (GHD) has been done traditionally by the combination of auxological data and the results of GH provocation tests. Recently, limitations of GH provocation tests have been advocated. Thus, three extreme subgroups (G-1; normal, G2; severe GHD, G-3; short children with normal GH secretion) were selected in order to show that(More)