The Boy:Girl Ratio of Children Diagnosed with Growth Hormone Deficiency-Induced Short Stature Is Associated with the Boy:Girl Ratio of Children Visiting Short Stature Clinics.

BACKGROUND: About twice as many boys as girls undergo growth hormone (GH) therapy in GH deficiency (GHD). However, this sex difference may not correctly reflect a real incidence. OBJECTIVES: We analyzed the evidence of a selection bias whereby more boys seek treatment at short stature clinics. SUBJECTS AND METHODS: The present study included 3,902 children who visited 17 short stature clinics with a height SD score of -2 SD or less. The percentage of children who underwent the GH stimulation test was compared between boys and girls, as was the percentage of children ultimately diagnosed with GHD. RESULTS: The children comprised 2,390 boys (61.3%) and 1,512 girls (38.7%), with a boy:girl ratio of 1.58:1. The percentage of children who underwent the GH stimulation test did not differ between boys (45.7%) and girls (49.8%). Among the children who underwent the GH stimulation test, the percentage diagnosed with GHD did not differ significantly between boys (22.0%) and girls (20.1%). The boy:girl ratio of children diagnosed with GHD was 1.59:1. CONCLUSIONS: The boy:girl ratio of children with short stature (1.58:1) did not differ significantly from that of children diagnosed with GHD (1.59:1). These results indicate that the predominance of boys in GHD does not reflect a real incidence, but rather a selection bias whereby a higher proportion of boys with short stature seek treatment at clinics. This difference arises because parents are more concerned about boys' height, and because boys reach adult height at an older age.

Behavioral support to parents through a cellular-phone website that provides the degree of urgency for medical attention of a child.

When a child suddenly falls ill, the child's family assesses if medical attention is required immediately. However, even in case of minor illnesses, it is not possible to approach a medical institution after consultation hours, and the burden on doctors from overtime-emergency medical examinations becomes a social problem. This study proposes the use of a cellular-phone website that provides information about the degree of urgency for medical attention to parents, who can choose the child's symptoms on the cellular-phone website regardless of the time or place. Therefore, through this study, parents experimentally evaluated the cellular-phone website; also, the effectiveness of this method as a behavioral support for parents was also evaluated. When an advice about the degree of urgency for a child's treatment was taken from the cellular-phone website, the parents felt relieved. Thus, the distress faced by pediatricians may change completely.

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

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.

A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.

UNLABELLED: We describe a 2-year-old Japanese boy with radiolucent urolithiasis and recurrent urinary tract infection. Urinalysis showed typical 2,8-dihydroxyadenine (2,8-DHA) crystals, leading to a diagnosis as adenine phosphoribosyltransferase (APRT) deficiency. The sensitivity of proliferating T cells to an adenine analogue, whose cytotoxicity is dependent on APRT, showed that he was homozygous or compound heterozygous for the APRT gene mutation. A genetic analysis revealed a compound heterozygous state for M136T and a novel missense mutation L33P, not previously reported in patients with APRT deficiency. CONCLUSION: Adenine phosphoribosyltransferase deficiency should be suspected in all patients with radiolucent kidney stones, urinary 2,8-DHA crystals were an important finding for an early diagnosis of APRT deficiency. Appropriate treatment should be initiated to prevent the development of urolithiasis or renal failure in APRT-deficient children. The T cell method was useful to detect a homozygote or a compound heterozygote of the pathogenic allelic gene in APRT deficiency, and a genetic analysis revealed a novel mutation L33P.

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.

Serum resistin concentrations in children with Kawasaki disease.

OBJECTIVE: Human resistin is expressed strongly in monocytes or macrophages rather than in adipocytes and may play a pivotal role in inflammation. We hypothesize that resistin levels are elevated in patients with Kawasaki disease (KD) in the acute phase and may be associated with the disease severity. DESIGN AND SUBJECTS: Serum resistin concentrations were measured in 44 Japanese children with KD and 17 age-matched healthy children. All the KD patients were given both aspirin and a single dose of intravenous immunoglobulin (IVIG). RESULTS: The serum resistin levels at baseline in KD children were significantly higher than those in controls [33.0 (21.6-45.3) vs. 14.8 (12.4-18.6) ng/mL, P < 0.001]. After IVIG therapy, serum resistin levels were significantly decreased to normal control levels. No significant difference in baseline resistin levels was found between the high-risk group and the low-risk group of coronary artery aneurysms. CONCLUSIONS: We confirmed that resistin was an acute inflammatory protein, but its concentrations were unlikely to predict the prognosis of disease in acute KD patients.

Mild encephalitis/encephalopathy with a reversible splenial lesion: evaluation by diffusion tensor imaging. Two case reports.

Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a clinico-radiological syndrome with a very particular clinical course. Three patients with MERS were evaluated by various sequences of magnetic resonance imaging with diffusion tensor imaging. Initial diffusion-weighted imaging showed reduction in the apparent diffusion coefficient values in the lesions, which completely resolved with the elimination of symptoms. However, diffusion anisotropy of the lesions showed no remarkable abnormalities in the early or delayed phases. These results may indicate that white matter architecture is preserved in both early and delayed phases in MERS.

Serum resistin concentrations in growth hormone-deficient children during growth hormone replacement therapy.

We performed this study to examine whether the serum resistin concentrations in growth hormone (GH)-deficient (GHD) children are influenced by administration of GH and to assess the relationship between serum resistin and free fatty acid levels during GH replacement therapy. The study included 20 prepubertal GHD children (16 boys and 4 girls) who were treated with recombinant human GH (hGH). The serum levels of resistin, insulin-like growth factor I, free fatty acid (FFA), triglyceride, cholesterol and glucose levels, leukocyte counts, and hemoglobin A(1c) were measured at baseline and after 1 month of hGH treatment. The serum resistin levels after hGH therapy were significantly higher than the basal resistin levels (median [range], 6.2 [4.9-11.8] vs 5.6 [4.4-8.3] ng/mL; P < .05), whereas the serum FFA levels were unchanged before and after treatment (0.51 [0.34-0.76] vs 0.37 [0.24-0.60] mEq/L). No significant relationship was found between serum resistin and FFA levels after hGH therapy. Body mass index, serum triglyceride, cholesterol and glucose levels, leukocyte counts, and hemoglobin A(1c) showed no significant differences before and after hGH treatment. Our results suggest that elevated serum resistin levels after 1-month hGH therapy in GHD children are not associated with the GH-induced lipolysis as found in GHD adults during short-time hGH therapy.

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. SUBJECTS AND METHODS: Sixteen prepubertal short children born SGA and 20 short children born AGA, matched for age, body mass index, height, pubertal status, gestational age, bone age and midparental height, were included in the study. The serum levels of adiponectin, IGFBP-1, insulin and insulin-like growth factor-I (IGF-I) were measured in the fasting state. RESULTS: The levels of serum adiponectin were significantly lower in the SGA than in AGA children (10.5 +/- 4.2 vs. 13.9 +/- 5.1 micro g/ml, P < 0.05). The levels of serum IGFBP-1, insulin and IGF-I were all similar in both groups. Overall, there was a significant positive correlation between adiponectin and IGFBP-1 (r = 0.40, P < 0.05). CONCLUSIONS: Our results suggest that hypoadiponectinaemia in short SGA children without catch-up growth may reflect insulin resistance and imply a higher risk of developing type 2 diabetes mellitus. Additionally, adiponectin may be a more sensitive indicator for latent insulin resistance than IGFBP-1 in short SGA children.