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Journal of Pediatric Endocrinology & Metabolism: JPEM

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https://www.readbyqxmd.com/read/28328534/clinical-presentation-and-treatment-response-to-diazoxide-in-two-siblings-with-congenital-hyperinsulinism-as-a-result-of-a-novel-compound-heterozygous-abcc8-missense-mutation
#1
Sonya Galcheva, Violeta Iotova, Sian Ellard, Sarah E Flanagan, Irina Halvadzhiyan, Chayka Petrova, Khalid Hussain
BACKGROUND: Congenital hyperinsulinism (CHI) can present with considerable clinical heterogeneity which may be due to differences in the underlying genetic etiology. We present two siblings with hyperinsulinaemic hypoglycaemia (HH) and marked clinical heterogeneity caused by compound heterozygosity for the same two novel ABCC8 mutations. CASE PRESENTATION: The index patient is a 3-year-old boy with hypoglycaemic episodes presenting on the first day of life. HH was diagnosed and treatment with intravenous glucose and diazoxide was initiated...
March 22, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28328533/plasma-but-not-serum-brain-derived-neurotrophic-factor-concentration-is-decreased-by-oral-glucose-tolerance-test-induced-hyperglycemia-in-children
#2
Shunsuke Araki, Yukiyo Yamamoto, Reiko Saito, Aoi Kawakita, Mami Eguchi, Motohide Goto, Kazuyasu Kubo, Rinko Kawagoe, Yasusada Kawada, Koichi Kusuhara
BACKGROUND: Little is known regarding the relationships among circulating brain-derived neurotrophic factor (BDNF) levels and glucose or insulin in children and adolescents. The objective of this study was to investigate whether circulating BDNF levels would change during the oral glucose tolerance test (OGTT). METHODS: We performed the OGTT and measured the serial changes in BDNF levels in both plasma and serum. RESULTS: There were 22 subjects in the normal type (N) group and 20 in the borderline/diabetic type (B/D) group, defined by the results of the OGTT...
March 22, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28328532/cushing-s-syndrome-in-infancy-due-to-ectopic-acth-secretion-by-a-sacro-coccygeal-teratoma
#3
Marta Rydzewska, Maryna Krawczuk-Rybak, Adrianna Zajkowska, Natalia Jurczuk, Dariusz Polnik, Mieczysław Szalecki, Elżbieta Moszczyńska, Martin O Savage, Artur Bossowski
BACKGROUND: Adenocorticotropic hormone (ACTH)-dependent Cushing's syndrome in infancy is extremely rare. We describe the case of a sacro-coccygeal ectopic ACTH-secreting immature teratoma in an infant who also presented the triad of defects characteristic of Currarino syndrome. CASE PRESENTATION: A girl was born with a large immature teratoma in the sacro-coccygeal region associated with anal atresia. At the age of 7 days, the concentration of α-fetoprotein (AFP) was above the age-specific normal range...
March 22, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28328531/provider-variability-in-the-initial-diagnosis-and-treatment-of-congenital-hypothyroidism
#4
Luke Cielonko, Tyler Hamby, John S Dallas, Luke Hamilton, Don P Wilson
BACKGROUND: Early diagnosis and expeditious treatment of newborns with congenital hypothyroidism (CH) is necessary to avoid mental retardation. METHODS: A survey of 44 practitioners in the southern US was conducted to better understand common practices regarding neonatal CH and the findings were compared with current guidelines in the US and Europe. RESULTS: Responses indicated some consensus that 10-15 μg of thyroid hormone/kg/day was the appropriate dosage...
March 22, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28328530/imaging-methods-for-bone-mass-evaluation-during-childhood-and-adolescence-an-update
#5
Isabela Leite Pezzuti, Adriana Maria Kakehasi, Maria Tereza Filgueiras, Juliana Albano de Guimarães, Isabela Alves Campos de Lacerda, Ivani Novato Silva
The objective of the work was to prepare an update on imaging methods for bone evaluation during childhood and adolescence. The text was based on original and review articles on imaging methods for clinical evaluation of bone mass in children and adolescents up to 20 years old. They were selected from BIREME and PUBMED by means of the following keywords: bone density; osteoporosis/diagnosis; densitometry; tomography; ultrasonography; magnetic resonance imaging; and radiogrammetry and published in Portuguese or English, in the last 10 years (2006-2016)...
March 22, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28328529/evaluation-of-vitamin-d-prophylaxis-in-3-36-month-old-infants-and-children
#6
Alper Ozcan, Mustafa Kendirci, Meda Kondolot, Fatih Kardas, Leyla Akın
BACKGROUND: Vitamin D (VD) deficiency (VDD) is still a population-based health problem that affects people at different ages. The aim of this study was to evaluate VD prophylaxis for the prevention of VDD in (3-36)-month-old infants and children. METHODS: Infants and children aged between 3 and 36 months, with different etiologies, admitted to outpatient and inpatient clinics from October 2010 to October 2011 at the Children's Hospital of Erciyes University, were enrolled for the study...
March 22, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28315851/response-to-growth-hormone-deficiency-in-mitochondrial-disorders
#7
Jose Bernardo Quintos, Juanita K Hodax, Bryn A Gonzales-Ellis, Chanika Phornphutkul, Michael P Wajnrajch, Charlotte M Boney
No abstract text is available yet for this article.
March 20, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28315850/associations-between-obesity-adverse-behavioral-patterns-and-cardiovascular-risk-factors-among-adolescent-inhabitants-of-a-greek-island
#8
Anastasia Garoufi, Evangelos E Grammatikos, Anastasios Kollias, Emmanuel Grammatikos, George S Stergiou, Alexandra Soldatou
BACKGROUND: Excess weight, unhealthy lifestyle habits and their sequelae have become a well-recognized public health problem in most countries. The objective of the study was to examine the relationship of adolescent overweight/obesity with behavioral habits and their association with blood pressure (BP) and lipid profile. METHODS: Anthropometric parameters, lifestyle, BP and lipid profile of 736 adolescents were evaluated cross-sectionally. The classifications of normal weight, overweight and obese were based on BMI z-scores...
March 20, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28315849/environmental-and-genetic-determinants-of-two-vitamin-d-metabolites-in-healthy-australian-children
#9
Abdulhadi Bima, Angela Pezic, Cong Sun, Fergus J Cameron, Christine Rodda, Ingrid van der Mei, Rachel Chiaroni-Clarke, Terence Dwyer, Andrew Kemp, Jun Qu, John Carlin, Justine A Ellis, Anne-Louise Ponsonby
BACKGROUND: Vitamin D deficiency has been associated with adverse health outcomes. We examined genetic and environmental determinants of serum 25(OH)D3 and 1,25(OH)2D3 in childhood. METHODS: The study sample consisted of 322 healthy Australian children (predominantly Caucasians) who provided a venous blood sample. A parental interview was conducted and skin phototype and anthropometry measures were assessed. Concentrations of 25(OH)D3 and 1,25(OH)2D3 were measured by selective solid-phase extraction-capillary liquid chromatography-tandem mass spectrometry...
March 20, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28315857/risk-factors-for-overweight-and-obesity-in-children-aged-2-6-years
#10
Meda Kondolot, Serpil Poyrazoğlu, Duygu Horoz, Arda Borlu, Canan Altunay, Elcin Balcı, Ahmet Öztürk, Mümtaz M Mazıcıoğlu, Selim Kurtoğlu
BACKGROUND: Understanding risk factors that may vary culturally can help improve preventive strategies for obesity. This is the first cross-sectional study aimed to determine the risk factors for overweight/obesity in children aged 2-6 years in a central Anatolian city in Turkey. METHODS: A total of 1582 children (1351 healthy, 231 overweight/obese) aged 2-6 years were included from the Anthropometry of Turkish Children aged 0-6 years database. Age, gender, birth weight, birth order, mother's age, mother's body mass index (BMI), weight gain of mothers during pregnancy, presence of gestational diabetes, breastfeeding duration, history of formula feeding, mother's and father's education, mother's job, monthly income, smoking at home and physical activity, sleep duration and duration of television (TV) watching of the children were evaluated as independent risk factors...
March 18, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28306538/leptin-and-adiponectin-levels-in-discordant-dichorionic-twins-at-72-hours-of-age-associations-with-anthropometric-parameters-and-insulin-resistance
#11
Svetlana J Milenković, Ljiljana B Mirković, Miljana Z Jovandarić, Dušan M Milenković, Violeta V Banković, Borisav Z Janković
BACKGROUND: Insulin resistance (IR) in adults has been associated with intrauterine growth restriction (IUGR). Leptin and adiponectin correlations with anthropometric parameters and IR at 72 h in discordant twins were tested. METHODS: We included 24 discordant (birth weight discordance ≥20% in relation to the heavier cotwin) and 30 concordant (birth weight discordance ≤10%) twins. RESULTS: A correlation between leptin (but not adiponectin) level and birth weight (BW), birth length and head circumference in IUGR twins was recorded (p<0...
March 17, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28306537/clinical-features-of-girls-with-short-stature-among-inv-9-turner-45-x-and-control-individuals
#12
Xuefeng Chen, Xiumin Wang, Guanping Dong, Junfen Fu, Wei Wu, Youjun Jiang
BACKGROUND: The clinical significance of pericentric inversion of chromosome 9 [inv (9)] remains unclear. METHODS: This case control study assessed girls with short stature. According to karyotypes, the subjects were divided into inv (9) [46,XX,inv (9)(p12q13) and 46,XX,inv (9)(p11q13)], Turner syndrome (45, X) and control (normal 46, XX) groups, respectively. Detailed clinical features were compared. RESULTS: Height standard deviation score (SDS) values at diagnosis were -2...
March 17, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28306536/molecular-defects-identified-by-whole-exome-sequencing-in-a-child-with-atypical-mucopolysaccharidosis-iiib
#13
Qingwen Zeng, Yanjie Fan, Lili Wang, Zhuo Huang, Xuefan Gu, Yongguo Yu
BACKGROUND: Mucopolysaccharidosis IIIB (MPS IIIB) is a genetic disease characterized by mutations in the NAGLU gene, deficiency of α-N-acetylglucosaminidase, multiple congenital malformations and an increased susceptibility to malignancy. Because of the slow progressive nature of this disease and its atypical symptoms, the misdiagnosis of MPS IIIB is not rare in clinical practice. This misdiagnosis could be avoided by using next-generation sequencing (NGS) techniques, which have been shown to have superior performance for detecting mutations underlying rare inherited disorders in previous studies...
March 17, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28301321/giant-parathyroid-adenoma-associated-with-severe-hypercalcemia-in-an-adolescent-patient
#14
Kinyas Kartal, Nurcihan Aygun, Mujdat Bankaoglu, Alper Ozel, Mehmet Uludag
BACKGROUND: The objective of this study is to bring attention to the importance of differential diagnosis in adolescent patients with skeletal involvement and hypercalcemia. CASE: A 17-year-old male patient with a complaint of severe leg pain was admitted to our hospital. Seven months before he had a fracture of his distal humerus after falling on to his left shoulder and was treated conservatively. Five months previously, he had a rupture of his quadriceps tendon...
March 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28301320/analysis-of-growth-hormone-receptor-gene-expression-in-tall-and-short-stature-children
#15
Sara Pagani, Giorgio Radetti, Cristina Meazza, Mauro Bozzola
BACKGROUND: The majority of children who present for evaluation of tall stature fall under the diagnosis of constitutional tall stature (CTS). METHODS: To investigate mechanisms of tall stature, we evaluated serum IGF-I values and the expression of the GHR gene in the peripheral blood cells of 46 subjects with normal height, 38 with tall stature and 30 healthy children with short stature. RESULTS: Our results showed significantly lower IGF-I levels in children with short stature (-0...
March 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28301319/hereditary-vitamin-d-resistant-rickets-in-lebanese-patients-the-p-r391s-and-p-h397p-variants-have-different-phenotypes
#16
Rabih Andary, Abdul-Karim El-Hage-Sleiman, Theresa Farhat, Sami Sanjad, Georges Nemer
BACKGROUND: Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene. Variable phenotypes have been associated with these mutations, and some of these were linked to the effects they have on the interacting partners of VDR, mainly the retinoic X receptor (RXR). METHODS: We examined four patients with HVDRR from three unrelated Lebanese families. All parents were consanguineous with normal phenotype...
March 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28306535/increase-of-body-mass-index-bmi-from-1-5-to-3-years-of-age-augments-the-degree-of-insulin-resistance-corresponding-to-bmi-at-12-years-of-age
#17
Osamu Arisaka, Toshimi Sairenchi, Go Ichikawa, Satomi Koyama
To elucidate the effect of early growth patterns on the metabolic sensitivity to adiposity, we examined the relationship between the homeostatic model assessment of insulin resistance (HOMA-IR) and body mass index (BMI) levels at 12 years of age in 101 boys and 91 girls in a birth cohort. Children with an increase in BMI from the ages of 1.5 to 3 years exhibited a greater increase of HOMA-IR per BMI increase at 12 years of age compared to those with a decrease in BMI or stable BMI from 1.5 to 3 years. This suggests that children who show an increase in BMI from 1...
March 15, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28245190/cystic-fibrosis-related-diabetes-cfrd-is-preceded-by-and-associated-with-growth-failure-and-deteriorating-lung-function
#18
Nicolas Terliesner, Mandy Vogel, Anna Steighardt, Ruth Gausche, Constance Henn, Julia Hentschel, Thomas Kapellen, Sabine Klamt, Julia Gebhardt, Wieland Kiess, Freerk Prenzel
BACKGROUND: Impaired glucose metabolism and cystic fibrosis (CF)-related diabetes (CFRD) are associated with insufficient weight gain and impaired lung function in children and adolescents with CF. We have asked whether imminent CFRD may be a cause of poor growth in children and adolescents. METHODS: A retrospective case control study including 32 patients with CF with or without diabetes was conducted. Sixteen pairs, matched according to age, gender and exocrine pancreatic insufficiency, were analysed...
February 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28245189/the-variable-clinical-phenotype-of-three-patients-with-hepatic-glycogen-synthase-deficiency
#19
Çiğdem Seher Kasapkara, Zehra Aycan, Esma Açoğlu, Saliha Senel, Melek Melahat Oguz, Serdar Ceylaner
BACKGROUND: Glycogen synthase deficiency, also known as glycogenosis (GSD) type 0 is an inborn error of glycogen metabolism caused by mutations in the GYS2 gene, which is transmitted in an autosomal recessive trait. It is a rare form of hepatic glycogen storage disease with less than 30 cases reported in the literature so far. The disorder is characterized by fasting hyperketotic hypoglycemia without hyperalaninemia or hyperlactacidemia. It is a glycogenosis with lack of liver glycogen synthesis, therefore hepatomegaly is not observed in patients with glycogen synthase deficiency...
February 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28222031/a-retrospective-analysis-of-longitudinal-changes-in-bone-mineral-content-in-cystic-fibrosis
#20
Adela Chirita-Emandi, Sheila Shepherd, Andreas Kyriakou, Jane D McNeilly, Carol Dryden, Donna Corrigan, Anne Devenny, Syed Faisal Ahmed
BACKGROUND: We aimed to describe the longitudinal changes in bone mineral content and influencing factors, in children with cystic fibrosis (CF). METHODS: One hundred children (50 females) had dual X-ray absorptiometry (DXA) performed. Of these, 48 and 24 children had two to three scans, respectively over 10 years of follow-up. DXA data were expressed as lumbar spine bone mineral content standard deviation score (LSBMCSDS) adjusted for age, gender, ethnicity and bone area...
February 21, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
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