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Biomedical subjects

O Arisaka

Publications and source records attributed to O Arisaka.

At least 55 records · Page 3Linked to original sources
PubMed1997

Biologically inactive growth hormone caused by an amino acid substitution.

Short stature caused by biologically inactive growth hormone (GH) is characterized by lack of GH action despite high immunoassayable GH levels in serum and marked catch-up growth to exogenous GH administration. We found a heterozygous single-base substitution (A-->G) in exon 4 of the GH-1 gene of a girl with short stature, clinically suspected to indicate the presence of bioinactive GH and resulting in the substitution of glycine for aspartic acid at codon 112. We confirmed the presence of mutant GH in the serum using isoelectric focusing analysis. The locus of mutation D112G was found within site 2 of the GH molecule in binding with GH receptor (GHR)/GH binding protein (GHBP). The expressed recombinant mutant GH tended to form a 1:1 instead of the 1:2 GH-GHBP complex normally produced by wild-type GH. The formation of a 1:2 GH-GHBP complex is compatible with the dimerization of GHRs by GH, a crucial step in GH signal transduction. Mutant GH was less potent than wild-type GH not only in phosphorylation of tyrosine residues in GHR, janus kinase 2 (JAK2), and signal transducers and activators of transcription 5 (STAT5) in IM-9 cells, but also in metabolic responses of BaF/GM cells, a stable clone transfected with cDNA of the chimera of the extracellular domain of human GHR, the transmembrane and the cytoplasmic domain of the human thrombopoietin receptor. These results indicate that the D112G mutation in the GH-1 gene causes production of bioinactive GH, which prevents dimerization of GHR and is therefore responsible for the patient's short stature.

Child, Preschool↗
PubMed1997

Characterization of low-density lipoprotein subclasses in children.

Low-density lipoprotein (LDL) particles are heterogeneous in density, size, and chemical composition, and this heterogeneity is thought to be genetically influenced. In the present study, plasma LDL subclasses in 248 children aged 7 to 13 years were analyzed by gradient gel electrophoresis. The prevalence of small dense LDL (SDLDL), a potent atherogenic LDL, was 9.3%, which is lower than that reported in adults. Furthermore, children with this LDL subclass showed increased body fatness and dyslipidemia, including elevated plasma triglyceride and apolipoprotein (apo) B concentrations and decreased plasma high-density lipoprotein (HDL) cholesterol and apo A-I concentrations, compared with children without this phenotype. These findings suggest that in addition to genetic factors, environmental factors that affect these cardiovascular risk factors may also influence expression of the SDLDL subclass.

Apolipoprotein A-I↗
PubMed1997

Lipoprotein(a) phenotypes in Japanese children: a cohort study.

BACKGROUND: Elevated serum lipoprotein(a) [Lp(a)] concentrations have been demonstrated to be associated with cardiovascular diseases due to premature atherosclerosis. However, the association of Lp(a) phenotypes with the development of these diseases remains largely unexplored. METHODS: We analyzed the population-based frequencies of serum Lp(a) phenotypes in 269 Japanese children aged 8-13 years in one community. According to the different apolipoprotein(a) [apo(a)] electrophoretic mobilities, Lp(a) was classified into seven single-band and respective double-band phenotypes. Each individual expressed a single (homozygotic) or a double band (heterozygotic). RESULTS: The serum Lp(a) concentration frequency distribution was skewed toward lower levels with a mean +/- SD of 15.5 +/- 18.0 mg/dl and a median of 11.0 mg/dl. The Lp(a) phenotype frequencies revealed that the frequency of double-band phenotype expression (55%) was higher than that of single bands (44%) and that the frequency of phenotypes representative of low molecular weight apo(a) was very low (2%). The mean serum Lp(a) concentration of the double-band-expressing subjects was higher than that of subjects with the single-band phenotype (20.1 +/- 19.9 vs. 10.5 +/- 15.9 mg/dl, p < 0.01). CONCLUSIONS: These findings of Lp(a) phenotypes in children seemed to differ from those in Japanese adults in another study; contrary to expectation, the predominant Lp(a) phenotypes found in children were those frequently associated with cardiovascular diseases in adults. Thus, it is speculated that children whose Lp(a) phenotypes remain unchanged during the transition to adulthood may show an increased susceptibility to cardiovascular disease, although the nutritional effects on the Lp(a) phenotypes cannot be neglected.

Adolescent↗
PubMed1997

Graves' disease associated with exophthalmos, cerebral ventricular dilatation and accelerated growth.

A report is presented of a girl with Graves' disease, which was diagnosed at the age of 1.7 years. The mother had no thyroid disease. The patient developed signs of hyperthyroidism shortly before her first birthday, and the most prominent manifestations were accelerated skeletal maturation and linear growth, and dilatation of the brain ventricles. The latter manifestation, which has not been reported previously, was reversible upon normalisation of thyroid function with antithyroid treatment for three years.

Adrenergic beta-Agonists↗
PubMed1997

[Regulation of gonadotropin secretion].

Physiological gonadotropin levels are modulated by complex relationships between sex steroids and the hypothalamic gonadotropin-releasing hormone (GnRH) pulses. The frequency and amplitude of GnRH secretion provide signals for the differential regulation of LH and FSH secretion. At higher GnRH pulse frequencies, LH secretion increases more than FSH secretion, whereas, at lower frequencies, FSH secretion is favored. Gonadotropin secretion and subunit gene expression are regulated by sex steroids acting either directly at the pituitary level or indirectly by alteration of GnRH pulses from the hypothalamus. And sex steroids have positive or negative actions, depending on the model system and physiological state. Three gonadally derived peptides, inhibin, activin, and follistatin have been isolated and shown to have specific effects on FSH gene expression. Although gonadotropin regulation and reproductive function have not been fully determined, current molecular technologies will probably identify additional targets of sex steroids and GnRH action and allow greater insight.

Animals↗
PubMed1995

Hyponatremia in central partial diabetes insipidus due to postoperative hypothalamic tumor.

We report the case of a 4-year-old boy with a postoperative hypothalamic tumor, who exhibited unusual water and electrolyte disturbance. This developed as a late manifestation during the course of central diabetes insipidus (DI), which started when the patient was 2 years old. Clinically, hyponatremia and DI appeared alternately within 1 day. The hyponatremia (lowest value Na+ 115 mmol/I) was associated with afebrile convulsions. Assessment of fluid status revealed that the patient had a reduced capacity for arginine vasopressin(AVP) secretion (partial DI), which was not physiologically regulated and which was not concomitantly sufficient to produce maximally concentrated urine and allow the production of maximally diluted urine. This defective osmoreceptor function in association with the previously existing reduced capacity for AVP release seemed to be responsible for the fluid disturbance in the patient. The administration of nasal 1-desamino-8D-arginine vasopressin (DDAVP) only when urine output was increased, instead of regular administration at a fixed time, prevented both worsening of hyponatremia and development of DI.

Arginine Vasopressin↗
PubMed1995

Effect of testosterone on bone density and bone metabolism in adolescent male hypogonadism.

To assess the influence of gonadal steroid testosterone (T) on bone mineral status in males during puberty, we observed the response of cortical bone density and serum biochemical parameters of bone metabolism to T treatment in 12 adolescent patients with hypogonadotropic hypogonadism (11 with both gonadotropin and growth hormone deficiency and one with isolated gonadotropin deficiency). The 12 patients aged 15 to 21 years (Tanner stage I to II) were divided into two groups: group 1 (n = 6) given T treatment for 2 consecutive years, and group 2 (n = 6) without T treatment for the first year and then with T treatment for the second year. Cortical bone density measured in the radius was less than the age-matched mean value for normal subjects in all 12 patients (groups 1 and 2) at the start of the study. Bone density in group 1 increased significantly during the 2-year T treatment period, but did not increase in group 2 during the first year without T treatment, although an increase was observed during the subsequent year with T treatment. Among circulating biochemical factors such as osteocalcin, parathyroid hormone (PTH), 25-hydroxyvitamin D (25-OHD), and 1,25-dihydroxyvitamin D [1,25-(OH)2D], only osteocalcin showed an increase in response to T treatment in both groups. Levels of insulin-like growth factor-I (IGF-I) remained consistently low and did not change in any patients except one with isolated gonadotropin deficiency.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗