A questionnaire survey on severe hypoglycemia (SH) in pediatric patients with diabetes was distributed to pediatric diabetes specialists and members of the Committee of Pediatric Diabetes in the Japan Diabetes Society. Thirty-three hospitals answered the questionnaire survey, and 17 had treated the eligible patients under 15 years of age, including 506 with type 1 diabetes and 302 with type 2 diabetes. Of these patients, 25 experienced SH from January 2017 to December 2021.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
August 2024
Objectives: GH-releasing peptide-2 (GHRP2) can be used for provocative growth hormone testing (GHT). Since it acts as a powerful stimulus for GH secretion, cut-off peak GH level in GHRP2 loading test (GHRP2T) is higher than in other GHT. Nevertheless, data on response at adolescents are limited.
View Article and Find Full Text PDFThe association between screen time (ST), including that for smartphones, and overweight/obesity in children was examined separately for boys and girls, considering the influence of lifestyle factors. A cross-sectional study was conducted in 2,242 Japanese children (1,278 girls) aged 10-14 years. Overweight/obesity was defined by the International Obesity Task Force.
View Article and Find Full Text PDFBackground: There are reports of mothers being diagnosed with inborn errors of metabolism (IEM) via positive newborn screening (NBS) of their newborns. Mothers with IEM are often considered to have mild cases of little pathological significance. Based in Niigata Prefecture, this study aimed to investigate mothers newly diagnosed with IEM via positive NBS in their newborns using tandem mass spectrometry, and to clarify the disease frequency and severity.
View Article and Find Full Text PDFCentral diabetes insipidus (CDI) is a rare disease in children and has a variety of etiologies. The major causes of CDI with pituitary stalk thickening (PST) are germinoma, Langerhans cell histiocytosis (LCH), and Lymphocytic infundibulo-neurohypophysitis, which are difficult to differentiate by imaging and require pathological diagnosis. We report a case of infantile-onset isolated neurohypophyseal LCH diagnosed by pathological findings.
View Article and Find Full Text PDFHuman chorionic gonadotropin (hCG)-producing tumors cause peripheral precocious puberty (PP) in boys, but generally not in girls. Homology between LH and hCG activates the LH receptor in testicular Leydig cells, increases testosterone production, and causes virilization. However, since FSH action is required for follicle development, hCG action alone does not increase estradiol (E2) production and does not cause feminization.
View Article and Find Full Text PDFBackground: The majority of active tuberculosis (TB) cases develop from latent tuberculosis infection (LTBI). Since the risk of TB in hemodialysis (HD) patients is particularly high, interferon-gamma release assay (IGRA) for LTBI screening in HD patients is considered important. However, the prevalence and characteristics of LTBI in Japanese HD patients remain obscure.
View Article and Find Full Text PDFThere are limited reports on the use of tolvaptan for syndrome of inappropriate antidiuretic hormone secretion (SIADH) in children. Managing serum sodium levels in SIADH patients during chemotherapy is often difficult because of the need for massive fluid infusions. We report the course of the use of tolvaptan for the treatment of hyponatremia during chemotherapy in a four-year-old girl with a suprasellar germ cell tumor.
View Article and Find Full Text PDFBackground And Objectives: Pediatric obesity is associated with clustered cardiometabolic risk and the future incidence of cardiovascular disease. However, few studies have determined the effect of pediatric obesity in Asia, where obesity is less common than in Western countries. We aimed to clarify whether weight status including underweight and slightly overweight is associated with metabolic risk factors in Japanese adolescents.
View Article and Find Full Text PDFIntroduction: Germline DICER1 mutations have recently been identified in familial multinodular goitre (MNG). The natural history of thyroid nodules in DICER1 carriers in children is unclear. The purpose of this study was to describe the clinical and genetic findings of childhood-onset MNG with DICER1 carrier in a patient who underwent total thyroidectomy.
View Article and Find Full Text PDFA 47-year-old man was admitted to our hospital because of thrombocytopenia and consciousness disturbance. As his laboratory data showed undetectable activity of a disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13 (ADAMTS13) and the presence of ADAMTS13 inhibitor, he was diagnosed with acquired thrombotic thrombocytopenic purpura (TTP). Asymptomatic primary Sjögren's syndrome (SS) and primary hypothyroidism were incidentally diagnosed on screening.
View Article and Find Full Text PDFOmodysplasia-2 (OMOD2; OMIM%16475) is a rare autosomal dominant (AD) skeletal dysplasia characterized by shortened humeri, short first metacarpal, craniofacial dysmorphism (frontal bossing, depressed nasal bridge, bifid nasal tip, and long philtrum), and variable degrees of genitourinary anomalies. This clinical phenotype overlaps with that of AD type Robinow syndrome. Recently, a mutation in FZD2 encoding a Frizzled Class Receptor 2 has been identified in a family with AD omodysplasia (an affected girl and her affected mother).
View Article and Find Full Text PDFObjective: To examine the independent and combined associations of cardiorespiratory fitness (CRF) and muscular fitness (MF) with cardiometabolic risk factors in Japanese adolescents.
Methods: A cross-sectional study including 993 Japanese adolescents (aged 13-14 years) was undertaken. Height, body mass, blood pressure, lipid profile (non-fasting), and HbA1c were measured.
Ascites total protein concentration (A-TP) affects the performance of cell-free and concentrated ascites reinfusion therapy (CART). As the factors determining A-TP remain unclear, we examined peritoneal and liver metastasis. Among 98 patients who received CART, 68 with cancer, ascites from no other apparent cause, and complete CT and A-TP data were recruited.
View Article and Find Full Text PDFFloating-Harbor syndrome (FHS) is a rare autosomal dominant disorder characterized by short stature, skeletal malformations, speech delay, and dysmorphic facial appearance. Recently, mutations in SRCAP encoding a coactivator for cAMP-response element binding protein (CREB)-binding protein have been identified in small number of patients with FHS. Here, we report on long-term follow-up data of a male patient with a SRCAP mutation.
View Article and Find Full Text PDFContext: Acrodysostosis is a rare autosomal dominant disorder characterized by short stature, peculiar facial appearance with nasal hypoplasia, and short metacarpotarsals and phalanges with cone-shaped epiphyses. Recently, mutations of PRKAR1A and PDE4D downstream of GNAS on the cAMP-mediated G protein-coupled receptor (GPCR) signaling cascade have been identified in acrodysostosis with and without hormone resistance, although functional studies have been performed only for p.R368X of PRKAR1A.
View Article and Find Full Text PDFBackground: Some patients with diabetes have advanced diabetic glomerular lesions and progressive kidney function decline even if urinary albumin levels are in the normal range. Therefore, another prognostic marker for diabetic kidney disease needs to be identified. We aimed to clarify whether urinary type IV collagen is associated with the progression of kidney function decline in patients with type 1 diabetes.
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