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Journal of Pediatric Endocrinology & Metabolism: JPEM

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https://www.readbyqxmd.com/read/29329106/genetic-mutations-associated-with-neonatal-diabetes-mellitus-in-omani-patients
#1
Aisha Al Senani, Nishath Hamza, Hanan Al Azkawi, Manal Al Kharusi, Nashat Al Sukaiti, Maryam Al Badi, Moza Al Yahyai, Matthew Johnson, Elisa De Franco, Sarah Flanagan, Andrew Hattersley, Sian Ellard, Waad-Allah Mula-Abed
BACKGROUND: Neonatal diabetes mellitus (NDM) is a rare disorder worldwide where diabetes is diagnosed in the first 6 months of life. However, Oman has a relatively high incidence of NDM. METHODS: In this study, we investigated the genetic etiologies underlying NDM and their prevalence in Oman. We collected a cohort of 24 NDM patients, with and without genetic diagnosis, referred to our center from 2007 to 2015. All patients without a genetic diagnosis were tested for mutations in 23 NDM-associated genes using a custom-targeted next-generation sequencing (NGS) panel and methylation analysis of the 6q24 locus...
January 12, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29329105/daily-sitting-time-associated-with-the-risk-of-metabolic-syndrome-in-korean-adolescents
#2
Ki Nam Bae, Hye Ryun Kim, Young-Jun Rhie, Kee-Hyoung Lee, Hyo-Kyoung Nam
BACKGROUND: This study aimed to investigate the relationship between daily sitting time and the risk of metabolic syndrome in Korean adolescents. METHODS: Data from 486 adolescents aged 12-18 years were obtained from national surveys. Daily sitting time was measured using questionnaires and divided into three intervals: <8 h; 8-12 h; and ≥12 h. RESULTS: The mean daily sitting time and prevalence of positive metabolic components were 620...
January 12, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29320365/association-of-cord-blood-ghrelin-leptin-and-insulin-concentrations-in-term-newborns-with-anthropometric-parameters-at-birth
#3
Magdalena Warchoł, Małgorzata Wojciechowska, Justyna Kupsz, Magdalena Helena Sot-Szewczyk, Michał Michalak, Paweł Kołodziejski, Ewa Pruszyńska-Oszmałek, Hanna Krauss
BACKGROUND: Ghrelin, leptin and insulin, generally considered as regulators of energy homeostasis of the organism may be related to fetal and early postnatal growth. Numerous studies have confirmed the presence of these hormones in the cells of the fetus indicating their importance in development at early stages of life. METHODS: This study analyzed active and total ghrelin by radioimmunoassay (RIA), leptin and insulin concentrations by enzyme-linked immunosorbent assay (ELISA) in 65 cord blood samples, from term newborns, and measured the birth anthropometric parameters [birth weight (BW), head circumference, chest, stomach, thigh and arm circumference]...
January 10, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29315077/improved-medical-alert-id-ownership-and-utilization-in-youth-with-congenital-adrenal-hyperplasia-following-a-parent-educational-intervention
#4
Alaina P Vidmar, Jonathan F Weber, Christina M Koppin, Roshanak Monzavi, Mimi S Kim
BACKGROUND: Classical congenital adrenal hyperplasia (CAH) is a potentially life-threatening condition, and adrenal crisis is a major cause of morbidity and mortality in affected children. Medical-alert identification (ID) could prevent complications of adrenal crisis by identifying the need for time-sensitive, critical treatment. Our objectives were to evaluate usage of medical-alert IDs by CAH youth, ownership and awareness of IDs amongst their parents, and the effect of an in-clinic educational intervention on ID utilization...
January 9, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29306931/decrease-in-serum-chemerin-through-aerobic-exercise-plus-dieting-and-its-association-with-mitigation-of-cardio-metabolic-risk-in-obese-female-adolescents
#5
Min Liu, Xiaojing Lin, Xiaohui Wang
BACKGROUND: The objective of this study was to determine the effects of a 4-week aerobic exercise plus dieting intervention on serum chemerin in obese female adolescents and its possible role in mitigating cardio-metabolic risk including glucose and lipid metabolism, central fat and inflammation. METHODS: Fifty obese female adolescents were randomly divided into two groups: exercise plus dieting group (n=30) and dieting group (n=20). The participants in the exercise plus dieting group completed 4 weeks of moderate aerobic exercise combined with dieting, while the subjects in the dieting group undertook only dieting...
January 8, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29306930/management-of-thyrotoxicosis-in-children-and-adolescents-35-years-experience-in-304-patients
#6
Fereidoun Azizi, Atieh Amouzegar
BACKGROUND: Diffuse toxic goiter accounts for about 15% of all childhood thyroid diseases. There is great controversy over the management of Graves' disease in children and adolescents. This article reports our experience in 304 children and juvenile patients with Graves' disease. METHODS: Between 1981 and 2015, 304 patients aged 5-19 years with diffuse toxic goiter were studied, of whom 296 patients were treated with antithyroid drugs (ATD) for 18 months. Patients with persistent or relapsed hyperthyroidism who refused ablative therapy with surgery or radioiodine were managed with continuous methimazole (MMI) treatment...
January 8, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29306929/comparison-between-two-inhibin-b-elisa-assays-in-46-xy-testicular-disorders-of-sex-development-dsd-with-normal-testosterone-secretion
#7
Guilherme Guaragna-Filho, Antônio Ramos Calixto, Georgette Beatriz De Paula, Laurione Cândido De Oliveira, André Moreno Morcillo, Maricilda Palandi De Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior
BACKGROUND: Inhibin B is a hormone produced by the Sertoli cells that can provide important information for the investigation of disorders of sex development (DSD) with 46,XY karyotype. The aim of this study is to compare two enzyme-linked immunosorbent assay (ELISA) assays for dosage of serum inhibin B in patients with 46,XY DSD with normal testosterone secretion. METHODS: Twenty-nine patients with 46,XY DSD and normal testosterone secretion (partial androgen insensitivity syndrome [PAIS] [n=8]; 5α-reductase deficiency [n=7] and idiopathic 46,XY DSD [n=14]) were included...
January 8, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29306928/four-novel-mutations-of-the-bckdha-bckdhb-and-dbt-genes-in-iranian-patients-with-maple-syrup-urine-disease
#8
Monica Zeynalzadeh, Alireza Tafazoli, Azadeh Aarabi, Morteza Moghaddassian, Farah Ashrafzadeh, Massoud Houshmand, Negin Taghehchian, Mohammad Reza Abbaszadegan
BACKGROUND: Maple syrup urine disease (MSUD) is a rare metabolic autosomal recessive disorder caused by dysfunction of the branched-chain α-ketoacid dehydrogenase (BCKDH) complex. Mutations in the BCKDHA, BCKDHB and DBT genes are responsible for MSUD. The current study analyzed seven Iranian MSUD patients genetically and explored probable correlations between their genotype and phenotype. METHODS: The panel of genes, including BCKDHA, BCKDHB and DBT, was evaluated, using routine the polymerase chain reaction (PCR)-sequencing method...
January 8, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29306927/a-rare-unbalanced-y-autosome-translocation-in-a-turner-syndrome-patient
#9
Ruen Yao, Ding Yu, Jian Wang, Xiumin Wang, Yiping Shen
BACKGROUND: Y:autosome translocations are reported to be associated with male infertility and azoospermia. Female cases with Y:autosome translocation are extremely rare. CASE PRESENTATION: We report a unique case of a rare unbalanced translocation t(Y;13) in a 12-year-old girl with Turner syndrome. Combined cytogenetic testing helped to demonstrate the detail of rare chromosomal structural rearrangement in this patient. CONCLUSIONS: The presented case showed femaleness phenotype and failure of masculinization with presence of Y chromosome and the SRY gene...
January 8, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29306926/reference-centile-curves-for-wrist-circumference-for-indian-children-aged-3-18-years
#10
Vaman Khadilkar, Shashi Chiplonkar, Veena Ekbote, Neha Kajale, Rubina Mandlik, Anuradha Khadilkar
BACKGROUND: Childhood obesity and its consequences have reached alarming proportions worldwide and in India. Wrist circumference is emerging as an easily measurable reproducible parameter for screening children at risk of obesity-related morbidities such as hypertension and insulin resistance. The objectives of this study were: (1) to compute age and gender-specific wrist circumference percentiles for 3-18-year-old apparently healthy Indian children and adolescents; (2) to assess the relationship of wrist circumference with measures of obesity and adiposity such as body mass index (BMI), fat percentage and blood pressure (BP) and (3) to suggest age and gender-specific cut-offs for wrist circumference percentile for the risk of hypertension in Indian children and adolescents...
January 8, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29305569/emergence-of-insulin-resistance-following-empirical-glibenclamide-therapy-a-case-report-of-neonatal-diabetes-with-a-recessive-ins-gene-mutation
#11
Melek Yildiz, Teoman Akcay, Banu Aydin, Abdurrahman Akgun, Beyza Belde Dogan, Elisa De Franco, Sian Ellard, Hasan Onal
BACKGROUND: As KATP channel mutations are the most common cause of neonatal diabetes mellitus (NDM) and patients with these mutations can be treated with oral sulfonylureas, empiric therapy is a common practice for NDM patients. CASE PRESENTATION: A non-syndromic, small for gestational age baby born to first-degree consanguineous parents was diagnosed with NDM. Because of hypo- and hyperglycemic episodes and variability in insulin requirement, we initiated a trial of glibenclamide, with a presumptive diagnosis of NDM caused by a KATP channel mutation...
January 6, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29305568/novel-compound-heterozygous-variants-in-the-lhcgr-gene-identified-in-a-subject-with-leydig-cell-hypoplasia-type-1
#12
Yufei Xu, Yulin Chen, Niu Li, Xuyun Hu, Guoqiang Li, Yu Ding, Juan Li, Yiping Shen, Xiumin Wang, Jian Wang
BACKGROUND: Leydig cell hypoplasia (LCH) is a rare disease and one of the causes of male disorder of sexual differentiation (DSD). Inactivating mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene account for the underlying LCH pathogenicity. This study aimed to analyze the clinical presentation and diagnosis as well as highlight the molecular characteristics of a subject with LCH type 1. CASE PRESENTATION: Clinical data were collected from the subject and analyzed...
January 6, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29303783/identification-of-five-mutations-in-a-patient-with-galactose-metabolic-disorders
#13
LETTER
Kleopatra H Schulpis, Georgia Thodi, Konstantinos Iakovou, Yannis Dotsikas, Elina Molou, Yannis L Loukas
No abstract text is available yet for this article.
January 5, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29303782/associations-of-leptin-insulin-and-lipids-with-retinal-microvasculature-in-children-and-adolescents
#14
Carola J C van Aart, Nathalie Michels, Isabelle Sioen, Annelies De Decker, Tim S Nawrot, Stefaan De Henauw
BACKGROUND: We investigated whether cardiometabolic risk factors measured in serum (total cholesterol [TC], high-density lipoprotein [HDL], triglyceride, leptin, insulin, glucose and insulin resistance) are associated with the retinal microvasculature, a marker of cardiovascular aging, in healthy children and adolescents. Moreover, we tested whether these associations are due to direct biological effects or more indirectly due to adiposity-related side effects. METHODS: We recruited 168 healthy Flemish children (7-16 years old, 54...
January 5, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29303781/association-of-sodium-intake-with-insulin-resistance-in-korean-children-and-adolescents-the-korea-national-health-and-nutrition-examination-survey-2010
#15
Yong Min Kim, So Hyun Kim, Young Suk Shim
BACKGROUND: This study aimed to evaluate the relationship between sodium intake and insulin resistance indices. METHODS: A total of 718 Korean children and adolescents (411 boys) aged 10-18 years who participated in the Korea National Health and Nutrition Examination Survey (KNHANES) were included in the study. The urinary sodium to urinary creatinine ratio was used as a surrogate for sodium intake. The homeostatic model assessment of insulin resistance (HOMA-IR) and the quantitative insulin sensitivity check index (QUICKI) were used as indices of insulin resistance...
January 5, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29303780/clinical-and-cytogenetic-features-of-516-patients-with-suspected-turner-syndrome-a-single-center-experience
#16
Annelise B Carvalho, Sofia H V Lemos-Marini, Gil Guerra-Junior, Andréa T Maciel-Guerra
BACKGROUND: Clinical suspicion of Turner syndrome (TS) may be challenging. Short stature and absent puberty are not mandatory and the dysmorphic picture is widely variable. The aim of the study was to describe a representative sample of patients with suspected TS in a single center and to verify which set of features may help discriminate those with TS. METHODS: This was a retrospective study of patients with suspected TS evaluated between 1989 and 2012 with the same clinical and cytogenetic protocols...
January 5, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29303779/identifying-depressive-symptoms-among-diabetes-type-and-the-impact-on-hemoglobin-a1c
#17
Bethany A Glick, K Ming Chan Hong, Kathryn Obrynba, Manmohan K Kamboj, Robert P Hoffman
OBJECTIVE: This study was designed to determine the effects of diabetes type and gender on depression risk determined by a highly sensitive screening questionnaire in adolescents. Glycemic control and counseling affect were also studied. METHODS: A retrospective chart review of patients seen between 2013 and 2015 was performed. Five hundred and thirty adolescents with type 1 (T1DM) or 2 (T2DM) diabetes mellitus completed the Patient Health Questionnaire-9 (PHQ-9) to identify depressive symptoms...
January 5, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29303778/veganism-as-a-cause-of-iodine-deficient-hypothyroidism
#18
Olga Yeliosof, Lawrence A Silverman
BACKGROUND: Iodine deficiency is the most common cause of acquired hypothyroidism worldwide. Although uncommon in the Western world, the incidence of iodine deficiency may be rising due to the increased use of restrictive diets. CASE PRESENTATION: We present a 23-month-old boy diagnosed with iodine deficiency hypothyroidism, induced by a vegan diet. CONCLUSIONS: This case highlights the risk for iodine deficiency in children on a vegan diet after discontinuation of breast/formula feeding that could lead to acquired hypothyroidism...
January 5, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29267171/clinical-outcome-in-a-series-of-pediatric-patients-with-congenital-generalized-lipodystrophies-treated-with-dietary-therapy
#19
Laura Papendieck, María B Araujo
BACKGROUND: Congenital generalized lipodystrophy (CGL) produces clinical features with severe metabolic consequences. Research has focused on measuring the response to the drugs. Nevertheless, there are no studies on the response to dietary therapy. The aim of this study was to show the clinical response to early nutritional intervention to modify or reverse metabolic effects in pediatric patients with CGL. METHODS: A retrospective study was conducted on patients with CGL followed up between January 2003 and June 2017...
December 21, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29267170/who-2006-child-growth-standards-overestimate-short-stature-and-underestimate-overweight-in-japanese-children
#20
Mikako Inokuchi, Nobutake Matsuo, John I Takayama, Tomonobu Hasegawa
BACKGROUND: It is unclear whether the World Health Organization (WHO) 2006 Child Growth Standards are applicable to East Asian populations. We investigated the applicability of the WHO standards of length/height and weight to a cohort representing middle-class children in Japan. METHODS: A cohort of children aged 0-5 years (3430 boys, 3025 girls) in the Tokyo Child Care Center Survey consecutively recruited from 2007 to 2013 were studied. Age- and sex-specific z-scores of length/height, weight and weight for length/height were calculated relative to either the WHO standards or the Japanese 2000 Growth References (nationally representative cross sectional survey data)...
December 21, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
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