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Journal of Clinical Research in Pediatric Endocrinology

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https://www.readbyqxmd.com/read/28619699/the-relationship-between-blood-pressure-and-sleep-duration-in-turkish-children-a-cross-sectional-study
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28515030/congenital-central-hypothyroidism-caused-by-a-novel-tsh-beta-subunit-gene-mutation-c-94g-a-in-two-siblings
#12
Bayram Özhan, Özlem Boz Anlaş, Bilge Sarıtepe, Burcu Albuz, Nur Gündüz Semerci
Congenital central hypothyroidism (C-CH) is a very rare disease. Alterations in genes included in pituitary development, mutations of the immunoglobulin superfamily member 1 (IGSF1) and transducin β-like protein 1(TBL1X ) can result in C-CH with multiple pituitary hormone deficiencies. However, mutations of the thyrotropin-releasing hormone receptor or TSH-beta (TSHB) gene are responsible for isolated congenital central hypothyroidism. In this paper, we present 2 patients from the same Turkish family with a novel mutation of TSHB...
May 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28515029/tolvaptan-utilization-in-children-with-chronic-hyponatremia-due-to-inappropriate-antidiuretic-hormone-secretion-siadh-three-case-reports-and-review-of-the-literature
#13
Gerdi Tuli, Daniele Tessaris, Luisa De Sanctis, Patrizia Matarazzo
Hyponatremia is the most common electrolyte disorder among hospitalized patients and it is sometimes considered as a poor outcome predictor. Its correction is thus indicated, even in asymptomatic patients. The conventional treatment is represented by fluid restriction in presence of euvolemia or hypervolemia; whereas loop diuretics are used in some hypervolemic conditions (cardiac heart failure, liver cirrhosis and nephrotic syndrome) and intravenous isotonic or hypertonic solution are administered in hypovolemic conditions...
May 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28443817/childhood-sustained-hypercalcemia-a-diagnostic-challenge
#14
Nisa Eda Çullas İlarslan, Zeynep Şıklar, Merih Berberoğlu
OBJECTIVE: This study aimed to call attention to hypercalcemia, a rare finding in children, which carries the potential of leading serious complications without proper intervention. METHODS: Diagnosis, treatment and clinical course of children with sustained hypercalcemia between 2006-2016 were reviewed. Group 1 (PTH-dependent) consisted of patients with high/unsupressed PTH level and Group 2 (PTH-independent) included cases with normal/supressed PTH level. RESULTS: Twenty patients (11 male, 9 female) with a median age of 6,25 (0,03-17,88) years were evaluated...
April 26, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28387648/dysmorphic-features-frontal-cerebral-cavernoma-and-hyperglycemia-in-a-girl-with-a-de-novo-deletion-of-7-23-mb-in-region-7p13-p12-1
#15
Gilberto Pérez López, Beatriz Villafuerte Quispe, María José Cabrejas Núñez, Luis Castaño, Raquel Barrio
We describe the case of a 7 year old girl referred to our Diabetes Unit for hyperglycemia associated to facial dysmorphic features, intellectual disability and cerebral cavernomas, who was initially diagnosed with type 1 diabetes mellitus (positive anti-IA2 antibody and HLA DR3/DR4/DQ2). In follow up, due to the evolution of the diabetes (very good metabolic control with low insulin dose and negative IA-2 antibodies - samples analyzed in two different laboratories-), first clinical suspicion was GCK-related Maturity-Onset Diabetes of the Young (MODY 2) by persistent mild hyperglycemia in the fasting state, which was substantiated in Multiplex Ligation-dependent Probe Amplification (MLPA)...
April 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28387647/management-of-childhood-thyroid-nodules-surgical-and-endocrinological-experience-in-more-than-one-hundred-cases
#16
Emre Divarcı, Ülgen Celtik, Zafer Dökümcü, Orkan Ergün, Geylani Özok, Samim Özen, Damla Gökşen Şimşek, Şükran Darcan, Nazan Çetingül, Aylin Oral, Yeşim Ertan, Bengü Demirağ, Ahmet Çelik
OBJECTIVE: The management of childhood thyroid nodules is still a big challenge for clinicians. In this study, we aimed to present our surgical and endocrinological experience in more than one hundred cases as a large experience in children. METHODS: Retrospective analysis of patients admitted with a thyroid nodule between 2006-2014 was performed. Detailed ultrasonography and fine needle aspiration biopsy(FNAB) were the corner stones of the diagnostic approach. RESULTS: One hundred-three children(72F,31M) with a mean age of 13...
April 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28443820/a-comprehensive-online-calculator-for-pediatric-endocrinologists-%C3%A3-edd-%C3%A3-%C3%A3-z%C3%A3-m-tpeds-metrics
#17
Korcan Demir, Samim Özen, Ergun Konakçı, Murat Aydın, Feyza Darendeliler
No abstract text is available yet for this article.
June 1, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28094762/persistent-m%C3%A3-llerian-duct-syndrome-with-transverse-testicular-ectopia-a-novel-anti-m%C3%A3-llerian-hormone-receptor-mutation
#18
Özlem Korkmaz, Samim Özen, Nurhan Özcan, Petek Bayındır, Sait Şen, Hüseyin Onay, Damla Gökşen, Ali Avanoğlu, Ferda Özkınay, Şükran Darcan
Persistent Müllerian duct syndrome is the result of either anti-Müllerian hormone (AMH) deficiency or AMH receptor resistance. A long tubular structure was palpated during the physical examination of a 13-month-old male patient who had presented with bilateral undescended testes. At physical examination, the testes were not palpable. The patient's karyotype was XY, SRY (+), and his AMH level was 22 ng/mol. Structures suggestive of ovaries, a uterus, and fallopian tubes were observed during the laparoscopic examination of the ectopic testis...
June 1, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28077344/heart-type-fatty-acid-binding-protein-level-as-a-tool-in-identification-of-early-cardiac-effects-of-diabetic-ketoacidosis
#19
Fatma Hilal Yılmaz, Sevil Arı Yuca, Hüsamettin Vatansev, Emine Ayça Cimbek, Yaşar Şen, İsa Yılmaz, Fikret Akyürek, Derya Arslan, Derya Çimen, Alaaddin Yorulmaz
OBJECTIVE: This study aimed to measure the serum levels of heart-type fatty acid binding protein (H-FABP) in patients presenting with diabetic ketoacidosis (DKA) and diabetic ketosis (DK) and to determine its role in identifying early-period cardiac ischemia. METHODS: This prospective study included 35 patients diagnosed with DKA, 20 patients diagnosed with DK, and 20 control subjects. H-FABP, creatine kinase-MB (CK-MB), and troponin I levels were investigated at presentation in patients with DKA and DK and in the control group...
June 1, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28077342/can-stoss-therapy-be-used-in-children-with-vitamin-d-deficiency-or-insufficiency-without-rickets
#20
Cemil Koçyiğit, Gönül Çatlı, Gülberat İnce, Elif Büşra Özkan, Bumin Nuri Dündar
OBJECTIVE: Stoss vitamin D treatment has been recommended for its non-skeletal benefits in adults, but there is a lack of data on the optimal dose of vitamin D stoss therapy in children with vitamin D deficiency/insufficiency without rickets. This study aimed to compare efficiency/side effects of two different stoss therapy regimens (10 000 IU/kg and 300 000 IU vitamin D3) administered in children with vitamin D deficiency/insufficiency without rickets. METHODS: Sixty-four children who had vitamin D deficiency/insufficiency were studied...
June 1, 2017: Journal of Clinical Research in Pediatric Endocrinology
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