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Journal of Clinical Research in Pediatric Endocrinology

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https://www.readbyqxmd.com/read/28766504/the-association-between-serum-tsh-levels-and-bmi-percentiles-in-children-with-primary-hypothyroidism-that-are-chemically-euthyroid-on-levothyroxine-replacement
#1
Asma Shaoba, Sanjib Basu, Stelios Mantis, Carla Minutti
OBJECTIVE: To determine if there is a association between TSH levels and BMI percentiles in children with primary hypothyroidism who are chemically euthyroid and on treatment with levothyroxine. METHODS: Retrospective cross-sectional study, consisting of review of medical records from RUSH Medical Center and Stroger Hospital, Chicago, IL, U.SA. Children (seen in clinic from 2008-2014) with primary hypothyroidism who were chemically euthyroid and on treatment with levothyroxine for at least 6 months were included in the study...
August 2, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28766503/could-biochemistry-lab-alert-for-low-alkaline-phosphatase-prompt-diagnosis-of-hypophosphatasia
#2
Asma Deeb, Elfatih Abubaker
OBJECTIVE: Hypophosphatasia (HPP) is an inborn error of metabolism with significant morbidity and mortality. Its presentation is non-specific leading to delay or missed diagnosis. Low ALP is a diagnostic test. Unlike high ALP, low level is commonly un-flagged by laboratories as abnormal. A new treatment has proved to be effective in HPP. We aim to study frequency of flagging of low ALP level by laboratory and the clinical manifestations of patients presenting with low ALP for a possible diagnosis of HPP...
August 2, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28766502/transient-neonatal-diabetes-due-to-a-mutation-in-kcnj11-in-a-child-with-klinefelter-syndrome
#3
Amanda Dahl, Radhika Dhamija, Alaa Al Nofal, Siobhan Pittock, Frederick Schwenk, Seema Kumar
Klinefelter syndrome is the most frequent chromosomal aneuploidy in males occurring in about 1 in 660 males. Epidemiological studies have demonstrated increased risk of type 1 diabetes and type 2 diabetes in adults with Klinefelter syndrome. There is only one previous report of neonatal diabetes in a patient with Klinefelter syndrome. We report transient neonatal diabetes due to a pathogenic heterozygous variant in KCNJ11 in a male infant with Klinefelter syndrome. A 78 day old male infant was noted to have sustained hyperglycemia with serum glucose ranging between 148 mg/dL (8...
August 2, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28739556/a-comparative-analysis-of-plasma-amino-terminal-propeptide-of-c-type-natriuretic-peptide-nt-procnp-concentration-in-children-with-normal-weight-versus-obesity-during-growth
#4
Seda Topçu, Bayram Özhan, Afra Alkan, Mesut Akyol, Filiz Şimşek Orhon, Sevgi Başkan, Betül Ulukol, Merih Berberoğlu, Zeynep Şıklar, Lale Satıroğlu-Tufan, A. Çevik Tufan
OBJECTIVE: The relationship between plasma C-type natriuretic peptide (CNP) concentration and height velocity in children has long been studied, and CNP has been implicated as an emerging new growth marker during childhood. Recent studies reported that besides its well-studied role in growth, plasma CNP levels are reduced in adolescents with overweight and/or obesity suggesting CNP as a potential biomarker in childhood obesity. The primary goal of this study was to test this hypothesis in a Turkish population...
July 24, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28739555/serum-nesfatin-1-levels-in-girls-with-idiopathic-central-precocious-puberty
#5
Ayça Altıncık, Oya Sayın
OBJECTIVE: Nesfatin-1, which is defined as an anorexigenic neuropeptide, is expressed mainly in central nervous system and in some periferic tissues. The role of nesfatin-1 in energy balance has been investigated; however, data are limited on the role of nesfatin-1 in human puberty. METHODS: The aim of this study was to investigate the following: i) the role of nesfatin-1 in puberty; and ii) relationship between nesfatin-1 and anthropometric measures, gonadotropin levels in girls with idiopathic central precocious puberty (CPP)...
July 24, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28739554/46-xy-disorder-of-sex-development-due-to-17-beta-hydroxysteroid-dehydrogenase-type-3-deficiency-in-an-infant-of-greek-origin
#6
Assimina Galli-Tsinopoulou, Anastasios Serbis, Eleni Kotanidou, Eleni Litou, Vaia Dokousli, Konstantina Mouzaki, Pavlos Fanis, Vassos Neocleous, Nicos Skordis
17β-hydroxysteroid dehydrogenase type 3 (17βHSD-3) enzyme catalyzes the conversion of androstenedione (Δ4) to testosterone (T) in the testes of the developing fetus, thus playing a crucial role in the differentiation of the gonads and in establishing the male sex phenotype. Any mutation in the encoding gene (HSD17B3) can lead to a varying degree of undervirilization of the affected male that ranges from completely undervirilized external female genitalia to predominantly male with micropenis and hypospadias...
July 24, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28739553/acute-effects-of-blood-transfusion-on-insulin-sensitivity-and-beta-cell-function-in-children-with-beta-thalassemia-hbe-disease
#7
Somboon Wankanit, Ampaiwan Chuansumrit, Preamrudee Poomthavorn, Patcharin Khlairit, Sarunyu Pongratanakul, Pat Mahachoklertwattana
OBJECTIVE: To assess acute effects of blood transfusion on insulin sensitivity and β-cell function in thalassemia patients. METHODS: Fifty children and adolescents with β-thalassemia/HbE disease were enrolled in a prospective cohort study. Hemoglobin, serum ferritin and oral glucose tolerance test (OGTT) were performed prior to, and one week after blood transfusion. Insulin sensitivity indices [Homeostatic Model Assessment (HOMA) of Insulin Resistance (HOMA-IR), Whole Body Insulin Sensitivity Index (WBISI)] and β-cell function indices [HOMA of β-cell function (HOMA-β), Insulinogenic Index (IGI), and Disposition Index (DI)] were calculated from glucose and insulin levels obtained during the OGTT...
July 24, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28739552/an-assessment-of-retinal-nerve-fiber-layer-thickness-in-non-diabetic-obese-children-and-adolescents
#8
Bediz Özen, Hakan Öztürk, Gönül Çatlı, Bumin Dündar
OBJECTIVE: Obesity affects almost all systems in the body and can also cause injury to the retinal nerve fibers due to a chronic inflammatory processAim: To determine changes in retinal nerve fiber layer (RNFL) thickness in non-diabetic children and adolescents using optical coherence tomography (OCT) and to evaluate the relation between this change and metabolic risk factors and pubertal stage. METHODS: Thirty eight obese and 40 healthy children and adolescents aged 10-18 years were included...
July 24, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28739551/the-description-of-a-new-case-with-proopiomelanocortin-pomc-deficiency-an-increasingly-important-diagnosis-to-make
#9
Semra Çetinkaya, Tülay Güran, Erdal Kurnaz, Melikşah Keskin, Elif Sağsak, Senay Savaş Erdeve, Jenifer P Suntharalingham, Federica Buonocore, John Achermann, Zehra Aycan
International surveillance data suggests a worldwide epidemic of pediatric obesity regardless of geographic, socioeconomic, racial and ethnic factors. Reversing this epidemic of pediatric obesity will require recognition and understanding of the pathophysiology of the condition to enable us to develop novel therapies as well as taking measures to shift social attitudes and public policies at a global level. Proopiomelanocortin (POMC) deficiency is a rare monogenic disorder of early-onset obesity, which has increased our insight into the important role of the leptin-melanocortin pathway in energy balance...
July 24, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28720554/is-there-an-association-between-cortisol-and-hypertension-in-overweight-or-obese-children
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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