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Journal of Clinical Research in Pediatric Endocrinology

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https://www.readbyqxmd.com/read/28720554/is-there-an-association-between-cortisol-and-hypertension-in-overweight-or-obese-children
#1
Aleid Jg Wirix, Martijn Jj Finken, Ines A Von Rosenstiel-Jadoul, Annemieke C Heijboer, Jeroen Nauta, Jaap W Groothoff, Mai Jm Chinapaw, Joana E Kist-Van Holthe
OBJECTIVE: The precise mechanisms behind the development of hypertension in overweight or obese children are not yet completely understood. Alterations in hypothalamus-pituitary-adrenal axis activity may play a role. We aimed to investigate if there is an association between cortisol parameters and hypertension in overweight or obese children. METHODS: Random urine (n=180) and early-morning saliva samples (n=126) for assessment of cortisol and cortisone were collected from 1) hypertensive overweight children (n=50); 2) normotensive overweight children (n=145) and 3) normotensive non-overweight children (n=75)...
July 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28720553/response-to-growth-hormone-treatment-in-a-patient-with-insulin-like-growth-factor-1-receptor-igf1r-deletion
#2
Ranim Mahmoud, Ajanta Naidu, Hiba Risheg, Virginia Kimonis
We report a six year-old boy who presented with short stature, microcephaly, dysmorphic features and developmental delay, who was identified with a terminal deletion of 15q26.2q26.3 containing the insulin like growth factor receptor (IGF1R) gene, in addition to a terminal duplication of the 4q35.1q35.2 region. We compare our case with other reports of deletions and mutations affecting the IGF1R gene associated with pre-and postnatal growth restriction. We report the dramatic response to growth hormone therapy in this patient which highlights the importance of identifying patients with IGF1R deletion and treating them early...
July 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28720552/autoimmune-limbic-encephalitis-associated-with-type-1-diabetes-mellitus
#3
Onur Akın, Aylin Kılınç Uğurlu, Emine Demet Akbaş, Esra Döğer, Yılmaz Akbaş, Aysun Bideci, Özge Yüce, Kıvılcım Gücüyener, Orhun Çamurdan, Neşe Karabacak, Peyami Cinaz
Glutamic acid decarboxylase (GAD) antibodies can participate in the pathogenesis of both type 1 diabetes mellitus (T1DM) and limbic encephalitis (LE). However, an association between T1DM and LE is very rare. We report a patient who was diagnosed with type 1 diabetes mellitus six months after encountering limbic encephalitis. A 16-year-old boy was admitted with behavioral changes, confusion, and headache. He was diagnosed with LE. Anti-GAD levels were high. He was treated with pulse methylprednisolone. During the steroid treatment, neurological symptoms improved but hyperglycemia occurred...
July 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28663161/pancreatic-agenesis-due-to-compound-heterozygosity-for-a-novel-enhancer-and-truncating-mutation-in-the-ptf1a-gene
#4
Monica Gabbay, Sian Ellard, Elisa De Franco, Regina S Moises
Neonatal diabetes, defined by the onset of diabetes within the first six months of life, is very rarely caused by pancreatic agenesis. Homozygous truncating mutations in the PTF1A gene, which encodes a transcriptional factor, have been reported in patients with pancreatic and cerebellar agenesis, whilst mutations located in a distal pancreatic-specific enhancer cause isolated pancreatic agenesis. We report an infant, born to healthy non-consanguineous parents, with neonatal diabetes due to pancreatic agenesis...
June 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28663160/a-mutation-in-insr-in-a-child-presenting-with-severe-acanthosis-nigricans
#5
Hale Tuhan, Serdar Ceylaner, Özlem Nalbantoğlu, Sezer Acar, Ayhan Abacı, Ece Böber, Korcan Demir
Rabson Mendenhall Syndrome (RMS) is an autosomal recessive disorder due to the mutations in insulin receptor gene (INSR), which is mapped to 19p13.2. RMS is characterized by acanthosis nigricans, generalized lanugo, tooth and nail dysplasia, high nasal bridge and growth retardation. A 5-year-old female patient was referred due to acanthosis nigricans and generalized lanugo. On her physical examination, severe acanthosis nigricans of the neck, axillae, the external genitalia and antecubital regions, generalized lanugo, mildly decreased subcutaneous fat, dysmorphic facial features, and polydactyly on her left arm were noted...
June 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28663159/synchronous-solid-pseudopapillary-tumor-and-insulinoma-in-an-adolescent-men1-patient-presenting-with-diagnostic-dilemmas
#6
Ahmet Uçar, Banu Özgüven, Muharrem Battal, Felda Alpaslan, Evrim Özmen, Aylin Yetim, Yasin Yılmaz
Multiple endocrine neoplasia (MEN1) is a rare autosomal dominant disorder characterized by primary hyperparathyroidism, enteropancreatic neuroendocrine tumors, and anterior pituitary adenomas. A 16-year-old male presented to the emergency outpatient clinic with tonic convulsions. Physical examination in the postconvulsive period was unremarkable and revealed a muscular, postpubertal adolescent. Biochemical tests at admission were consistent with hyperinsulinemic hypoglycemia and remarkable for elevated levels of liver transaminases and creatine kinase...
June 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28663158/an-abcc8-nonsense-mutation-causing-neonatal-diabetes-through-altered-transcript-expression
#7
Sarah Flanagan, Vũ Chí Dũng, Jayne Houghton, Elisa De Franco, Can Thi Bich Ngoc, Annet Damhuis, Frances Ashcroft, Lorna Harries, Sian Ellard
OBJECTIVE: The pancreatic ATP-sensitive K+ (K-ATP) channel is a key regulator of insulin secretion. Gain-of-function mutations in the genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the channel cause neonatal diabetes whilst loss-of-function mutations in these genes result in congenital hyperinsulinism. We report two patients with neonatal diabetes in whom we unexpectedly identified recessively inherited loss-of-function mutations. The aim of this study was to investigate how a homozygous nonsense mutation in ABCC8 could result in neonatal diabetes...
June 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28663157/phenotype-heterogeneity-in-glucokinase-maturity-onset-diabetes-of-the-young-gck-mody-patients-single-pediatric-centre-observation
#8
Anna Wedrychyowicz, Ewa Tobor, Magdalena Wilk, Ewa Ziolkowska-Ledwith, Anna Rams, Katarzyna Wzorek, Barbara Sabal, Małgorzata Stelmach, Jerzy B Starzyk
OBJECTIVE: The aim of the study was to evaluate the clinical phenotypes of Glucokinase - Maturity Onset Diabetes of the Young (GCK-MODY) pediatric patients from South-West Poland and to search for phenotype-genotype correlations. METHODS: We performed retrospective analysis of data of all 37 CGK-MODY patients, 21 girls, age 1.9-20.1, mean 12.5±5.2 years, treated in our centre. A retrospective analysis of clinical data from years 2002-2013 was performed. RESULTS: GCK-MODY carriers were found among 1043 diabetes mellitus (DM) patients (3%), they were second the most numerous groups of DM patients, following type 1 DM, in our centre...
June 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28663156/clinical-and-genetic-findings-of-turkish-hypophosphatasia-cases
#9
Halil Sağlam, Şahin Erdöl, Sevil Dorum
OBJECTIVE: Objective: Hypophosphatasia (HPP) is a rare, commonly unrecognized hereditary mineralization defect with a dramatically poor prognosis in severe cases. This study is the first to examine the detailed clinical and laboratory characteristics of patients with HPP and healthy carriers in Turkey. METHODS: The study data were obtained retrospectively from the files of 16 cases with HPP who were followed in our center from 2012 to 2016, including 12 children and 4 adults, and 10 healthy carriers...
June 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28619699/the-relationship-between-blood-pressure-and-sleep-duration-in-turkish-children-a-cross-sectional-study
#10
Cengiz Bal, Ahmet Öztürk, Betül Çiçek, Ahmet Özdemir, Gökmen Zararsız, Demet Ünalan, Gözde Ertürk Zararsız, Selçuk Korkmaz, Dinçer Göksülük, Vahap Eldem, Sevda İsmailoğulları, Emine Erdem, Mümtaz M Mazıcıoğlu, Selam Kurtoğlu
OBJECTIVE: As in adults, hypertension is also an important risk factor for cardiovascular disease in children. We aimed to evaluate the effect of sleep duration on blood pressure in normal weight Turkish children aged between 11-17 years. METHODS: This cross-sectional study was conducted in the primary and secondary schools of the two central and ten outlying districts of Kayseri/Turkey with 2860 (1385 boys, 1475 girls) children and adolescents. Systolic and diastolic blood pressures were measured according to the recommendations of the Fourth Report of the National High Blood Pressure Education Program (NHBPEP) Working Group on High Blood Pressure in Children and Adolescents...
June 16, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28588004/long-term-follow-up-of-a-case-with-proprotein-convertase1-3-deficiency-transient-diabetes-mellitus-with-intervening-diabetic-ketoacidosis-during-growth-hormone-therapy
#11
Nazlı Gonc, Alev Ozon, Ayfer Alikasifoglu, Nurgun Kandemir
Proprotein convertase 1/3 deficiency is a very rare disease characterized by severe intractable diarrhea in the first years of life, followed by obesity and several hormonal deficiencies later. Diabetes mellitus requiring insulin treatment and diabetic ketoacidosis have not been reported before in this disorder. We herein present a girl with proprotein convertase 1/3 deficiency who has been followed from birth to 17 years of age. She developed deficiencies of all pituitary hormones over time as well diabetes mellitus while receiving growth hormone therapy...
June 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28588003/pituitary-adenoma-apoplexy-in-an-adolescent-a-case-report-and-review-of-the-literature
#12
Hero Zijlker, Sebastian Schagen, Jan Maarten Wit, Biermasz Nienke, Wouter van Furth, Wilma Oostdijk
We present a 13-year-old boy who became progressively sleepy and experienced a sudden headache with vomiting and fever. Laboratory testing showed hypoglycemia, multiple pituitary hormonal deficiencies and elevated C-Reactive Protein (CRP). A cranial MRI showed an opaque sphenoid sinus and an intrasellar mass suspect for hemorrhage, so that we suspected a pituitary apoplexy (PA) originating from a non-functioning adenoma, although a pituitary abscess could not completely be excluded. The boy was treated with antibiotics, hydrocortisone and levothyroxine and a close follow-up to monitor the clinical course...
June 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28588001/successful-growth-hormone-therapy-in-cornelia-de-lange-syndrome
#13
Michael de Graaf, Sarina G Kant, Jan Maarten Wit, Egbert Johan Willem Redeker, Gijs Willem Eduard Santen, Annemieke Johanna Maria Henriëtta Verkerk, André Gerardus Uitterlinden, Monique Losekoot, Wilma Oostdijk
Cornelia de Lange Syndrome (CdLS) is a heterogeneous syndrome, both clinically and genetically, in its classical form characterised by distinctive facial features, intra-uterine growth retardation, short stature, developmental delay and anomalies in multiple organ systems. NIPBL, SMC1A, SMC3, RAD21 and HDAC8, all involved in the Cohesin pathway, have been identified to cause CdLS. Growth hormone (GH) secretion has been reported as normal, and to our knowledge there are no reports on the effect of recombinant human GH (r-hGH) treatment in CdLS patients...
June 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28588000/effect-of-maternal-obesity-on-fetal-growth-and-the-expression-of-placental-fatty-acid-transporters
#14
Kui Ye, Li Li, Dan Zhang, Yi Li, Hai Qing Wang, Han Lin Lai, Chuan Lai Hu
OBJECTIVE: To explore the effects of maternal high-fat diet induced obesity on fetal growth and the expression of placental nutrient transporters. METHODS: Maternal obesity was established in rats by 8 weeks of pre-pregnancy high-fat (HF) diet feeding, while rats in the control group were fed with normal (CON) diet. Diet induced obesity (DIO) rats and diet induced obesity resistant (DIR) rats were selected according to body weight gain over this period. After copulation, the CON rats were divided into two groups: switched to HF diet (CON-HF group) or maintained on the CON diet (CON-CON group)...
June 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28587998/clinical-and-genetic-analysis-of-two-chinese-families-with-vitamin-d-dependent-rickets-type-ia-and-follow-up
#15
Chen Ruimin, Li Yunfei, Yuan Xin, Lin Xiangquan, Yang Xiaohong, Zhang Ying
OBJECTIVE: Vitamin D-dependent rickets type IA (VDDR-IA) is a rare autosomal recessive disorder characterized by the early onset of severe rickets. The objectives of this study were twofold: 1) to analyze the clinical characteristics and therapy of two patients with VDDR-IA from two separate Chinese family, and 2) investigate the CYP27B1 gene in two large pedigrees. METHODS: Medical history, clinical manifestations, physical examination, radiological findings and laboratory data were analyzed from two patients with VDDR-IA...
June 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28529200/occurrence-of-hyperprolactinemia-in-children-with-subclinical-hypothyroidism
#16
Neera Sharma, Deep Dutta, Lokesh Sharma
BACKGROUND: Prevalence of hyperprolactinemia in children with subclinical hypothyroidism (ScH) is not known. This study aimed to determine the occurrence and predictors of hyperprolactinemia in children with euthyroidism, ScH and overt primary hypothyroidism (OPH). METHODS: Consecutive children <18 years age, diagnosed to have normal thyroid function, ScH or OPH underwent serum prolactin estimation. Children with pituitary adenomas, secondary hypothyroidism, multiple pituitary hormone deficiency, comorbid states and drug-induced hyperprolactinemia were excluded...
May 22, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28529199/can-fetuin-a-be-a-marker-for-insulin-resistance-and-poor-glycemic-control-in-children-with-type-1-diabetes-mellitus
#17
Ülkü Gül Sıraz, Murat Doğan, Nihal Hatipoğlu, Sabahttin Muhtaroğlu, Selim Kurtoğlu
OBJECTIVE: Backgroud Metabolic impairment in Type 1 Diabetes Mellitus (DM) with poor glycemic control causes insulin resistance, Non-Alcoholic Fatty Liver Disease (NAFLD) and atherosclerosis; thus, increased Carotid-intima media thickness (CIMT). The Fetuin-A has protective effect in cardiovascular disorders, which is increased in hepatosteatosis. We aimed to investigate reliability of Fetuin-A levels in early detection of diabetic complications in children with T1DM and to identify a cut-off value that may show poor metabolic control...
May 22, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28515034/wrist-circumference-and-frame-size-percentiles-in-6-17-year-old-turkish-children-and-adolescents-in-kayseri
#18
Ahmet Öztürk, Betül Çiçek, M Mümtaz Mazıcıoğlu, Gökmen Zararsız, Selim Kurtoğlu
OBJECTIVE: The aim of the current study was to provide wrist circumference (WrC) and body frame size (Height/WrC) percentile values in Turkish children and adolescents aged 6-to-17 years. METHODS: In this cross-sectional study, the data of "the Determination of Anthropometric Measures of Turkish Children and Adolescents" study (DAMTCA II) in Kayseri/Turkey was used. A total of 4330 observations were recorded (1931 boys, 2399 girls). The WrC and frame size references were produced with generalized additive models for location, scale and shape (GAMLSS)...
May 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28515032/bilateral-painless-testicular-mass-acute-uveitis-and-annular-cutaneous-lesions-an-unusual-presentation-of-sarcoidosis-and-literature-review
#19
Enver Şimşek, Tülay Şimşek, Meliha Demiral, Funda Canaz, M Fuat Açıkalın
BACKGROUND: Sarcoidosis is a systemic inflammatory disease characterized by non-caseating epitheloid granulomas; whereas it usually involves the lungs and lymph nodes, genitourinary involvement is extremely rare. For this reason, no consensus regarding the diagnostic and management options for testicular sarcoidosis has been reached. OBJECTIVE: The aim of this case report was to describe an unusual clinical presentation of sarcoidosis. An 8-year-old boy presented with a 6-month history of painless scrotal enlargement and a 2-month history of photophobia, blurred vision, and pain in both eyes...
May 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28515031/phenotypic-variability-in-a-family-with-acrodysostosis-type-2-caused-by-a-novel-pde4d-mutation-affecting-the-serine-target-of-pka-phosphorylation
#20
Julia Hoppmann, Julia Gesing, Caroline Silve, Chrystel Leroy, Astrid Bertsche, Franz Wolfgang Hirsch, Wieland Kiess, Roland Pfäffle, Volker Schuster
BACKGROUND: Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones. Two distinct subtypes are differentiated: acrodysostosis type 1 resulting from defects in PRKAR1A and acrodysostosis type 2 caused by mutations in PDE4D. Most cases are sporadic. OBJECTIVE: We report on a rare multigenerational familial case of acrodysostosis type 2 due to a novel autosomal dominantly inherited PDE4D mutation...
May 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
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