Tomohiro Kamoda

Serum adiponectin concentrations in newborn infants in early postnatal life.

Serum adiponectin levels were investigated in 28 small-for-gestational-age (SGA) and 34 appropriate-for-gestational-age (AGA) term neonates to examine how fetal growth correlates with adiponectin levels. A blood sample for determination of adiponectin was obtained during the first 24 h of life. The levels of serum adiponectin were significantly higher in all newborn infants than in healthy children (28.7 ± 17.0 versus 9.3 ± 6.1 μg/mL; p < 0.01). There was a significant difference in adiponectin levels between SGA and AGA infants (23.2 ± 14.8 versus 33.2 ± 17.5 μg/mL; p = 0.02). For all of the newborn groups, serum adiponectin levels correlated positively with birth weight (r = 0.27, p < 0.05) and head circumference (r = 0.30, p < 0.05). There was no relationship between serum adiponectin levels and gestational age, birth length, blood glucose levels, or blood sampling time after birth. There was no gender difference in adiponectin levels in the entire newborn group (30.0 ± 19.7 versus 28.0 ± 15.5 μg/mL, in male and female infants). Our results suggest that hyperadiponectinemia and a positive relationship between the serum levels of adiponectin and birth weight in newborns cannot be explained by the low percentage of body fat alone. Lower adiponectin levels in SGA infants than in AGA infants are unlikely to suggest insulin resistance in intrauterine growth–retarded infants in early postnatal life but may be a predisposing factor in the future development of insulin resistance or type 2 diabetes.

Serum concentrations of insulin, insulin‐like growth factor(IGF)‐I, IGF binding protein (IGFBP)‐1 and ‐3 and growth hormone binding protein in obese children: fasting IGFBP‐1 is suppressed in normoinsulinaemic obese children

Simple obesity is characterized by normal or accelerated growth in the presence of reduced serum levels of GH, whereas its detailed mechanism remains unknown. We, therefore, evaluated interrelationships among serum levels of insulin, IFG‐I, IGF binding protein (IGFBP)‐1 and ‐3 and growth hormone binding protein (GHBP) in prepubertal obese children.

ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation

A 3‐year‐old girl with phenotypic and cytogenetic manifestations of the ICF syndrome and DNA hypomethylation but without DNMT3B gene mutation is described. At age 3 months, she had an apneic spell that left her with spastic paraplegia and severe mental retardation. At age 8 months, she suffered meningococcal meningitis and sepsis. When seen by us at age 3 years with virilization, she had a cleft plate, macroglossia, and an atrial septal defect. An adenoma was surgically removed from the right adrenal cortex. Her serum immunoglobulin levels were normal except IgA at the low normal border. Her lymphocytes showed paracentromeric stretching of chromosomes 1 and 16 in 7% of metaphases, and multiradial figures involving these chromosomes in 1% of cells. Hypomethylation of classical satellite 2 DNA was observed with BstBI digestion, but in a lesser degree than those in the individuals with proven DNMT3B mutations. No mutation was found in the coding and promoter regions of the gene. Several alternative interpretations were considered to explain the low frequencies of chromosomal instabilities and the lower degree of DNA hypomethylation, and undetected DNA3B mutations. A mutation may be present in the gene but undetected, present in other DNA methyltransferases (DNMT) genes or in a DNMT‐associated protein gene.

Serum leptin and insulin concentrations in prepubertal lean, obese and insulin‐dependent diabetes mellitus children

To evaluate the relationship between serum levels of leptin and insulin in prepubertal lean, obese and insulin‐dependent diabetes mellitus (IDDM) children.

Changes in Serum Adiponectin Levels from Birth to Term-Equivalent Age Are Associated with Postnatal Weight Gain in Preterm Infants

Background: Adiponectin, one of the adipocytokines, is postulated to play a key role in fetal growth, probably enhancing the growth-promoting effect of insulin through insulin-sensitizing action. Objectives and Methods: To examine how different intrauterine or postnatal growth patterns relate to adiponectin secretion, we measured serum adiponectin concentrations in 30 appropriate-for-gestational-age (AGA) and 19 small-for-gestational-age (SGA) preterm infants on the first day of life and at term-equivalent age. Results: The serum levels of adiponectin increased significantly in all preterm infants from birth to term-equivalent age. The adiponectin levels at term-equivalent age were significantly higher in the AGA than in the SGA group [mean (SD) 40.4 (12.3) vs. 28.4 (10.4) µg/ml; p < 0.01] after adjustment for gestational age or term-equivalent body weight. The increase in adiponectin levels from birth to term-equivalent age was significantly higher in the AGA than in the SGA group, and was positively correlated with the weight gain rate (g/kg/day) in the combined groups (r = 0.37, p < 0.01). A multiple regression analysis with the adiponectin increase from birth to term-equivalent age as the dependent variable for all the subjects revealed that only weight gain rate was independently associated with the adiponectin increase. Conclusions: Our results suggest that the change in serum adiponectin levels may reflect postnatal growth from birth to term-equivalent age in preterm infants.

Lysinuric protein intolerance and systemic lupus erythematosus

Abstract We report lysinuric protein intolerance (LPI) and systemic lupus erythematosus (SLE) in a 14-year-old girl. The co-existence of LPI and SLE in the same patient has been reported before and suggests that SLE is directly connected with LPI. Conclusion Possibly in LPI the metabolic derangement can cause immunological abnormalities. Therefore, when multisystem involvement is observed in LPI patients, SLE should be considered as a rare complication.

The serum levels of proinsulin and their relationship with IGFBP-1 in obese children.

Aim:  Serum proinsulin (PI) levels were investigated in obese children to determine whether PI is a sensitive indicator of insulin resistance, as previously shown in adults with type 2 diabetes mellitus (DM), and to evaluate their relationship with insulin‐like growth factor‐binding protein‐1 (IGFBP‐1) known as a predictor of the development of cardiovascular disease in diabetic adults.

Longitudinal Evaluation of Patients with a Homozygous R450H Mutation of the TSH Receptor Gene

Background/Aim: The R450H mutation of the TSH receptor (TSHR) gene has been frequently observed in Japanese patients with resistance to TSH. The purpose of this study was to clarify the phenotype of patients with a homozygous R450H mutation of the TSHR gene; the mutant receptor has previously demonstrated moderately impaired function in vitro. Methods: We performed a clinical investigation of 5 Japanese patients who had hyperthyrotropinemia as neonates, in whom a homozygous R450H mutation of the TSHR gene had been demonstrated by genetic sequencing analysis. Results: The thyroid hormone levels of the patients were normal in early infancy, although their serum levels of TSH were mildly elevated. After supplemental treatment with levothyroxine sodium (L-T4) was started, we had to increase the dose to maintain the level of TSH within the normal range in all patients. Thyroid dysfunction became obvious in one patient at reexamination during adolescence when L-T4 treatment was stopped for 1 month. Four patients were examined for intelligence quotient and their scores were normal. Conclusions: Thyroid hormone replacement therapy should be considered based on biological data in patients with hyperthyrotropinemia who have a homozygous R450H mutation of the TSHR gene even if they do not exhibit obvious hypothyroidism in infancy.

Serum dipeptidyl peptidase 4 activity in children with type 1 diabetes mellitus.

Abstract Background: It is poorly understood whether dipeptidyl peptidase 4 (DPP4) activity is altered and how DPP4 contributes to glycemic control in patients with type 1 diabetes mellitus (T1DM). Aim: The aim of this study was to measure serum DPP4 activity and to assess its relationships to metabolic variables in T1DM children. Methods: Serum DPP4 activity was determined using a fluorometric assay in 43 T1DM and 26 control children. Results: Serum DPP4 activity was significantly higher in T1DM children than in controls (3.57±0.99 vs. 2.67±0.77 U/mL, p<0.001). In the T1DM children, DPP4 activity was not correlated with HbA1c, blood glucose, or diabetes duration. A significant negative correlation was found between DPP4 activity and serum adiponectin levels in the T1DM group (r=–0.35, p<0.05). Conclusions: Serum DPP4 activity was increased in the T1DM children, whereas it was not associated with glycemic control. Given the negative correlation between serum DPP4 and adiponectin levels, further investigations are warranted to elucidate the role of DPP4 on insulin sensitivity in T1DM children.

Serum levels of adiponectin and IGFBP‐1 in short children born small for gestational age

Objective  The aim of this study was to quantify serum adiponectin concentrations in short children born small for gestational age (SGA) compared with those in children born appropriate for gestational age (AGA), and to assess the relationship between the serum levels of adiponectin and insulin‐like growth factor binding protein‐1 (IGFBP‐1) known as a predictor of the development of type 2 diabetes mellitus and cardiovascular disease.