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Journal of Clinical Research in Pediatric Endocrinology

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https://www.readbyqxmd.com/read/29022558/klinefelter-syndrome-in-childhood-variability-in-clinical-and-molecular-findings
#1
Neşe Akcan, Şükran Poyrazoğlu, Firdevs Baş, Rüveyde Bundak, Feyza Darendeliler
OBJECTIVE: Klinefelter syndrome (KS) is the most common (1/500-1/1000) chromosomal disorder in males, but only 10% of cases are identified in childhood. This study aimed to review the data of the children with KS to assess the age and reason for diagnosis, clinical and laboratory findings, as well as the presence of comorbidities. METHODS: Twenty-three KS patients were analyzed retrospectively. Age at admission, presenting symptoms, comorbid problems, height, weight, pubertal status, biochemical findings, hormone profiles, bone mineral density, and karyotype were evaluated...
October 12, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29022557/two-childhood-pheochromocytoma-cases-due-to-von-hippel-lindau-disease-one-associated-with-pancreatic-neuroendocrine-tumor-a-rare-manifestation
#2
Aydilek Dağdeviren Çakır, Hande Turan, Ayça Aykut, Asude Durmaz, Oya Ercan, Olcay Evliyaoğlu
(VHL) disease is an autosomal dominantly inherited disorder characterized by hemangioblastomas of retina and central nervous system (CNS); renal cysts, clear cell carcinoma; PCC; endolymphatic sac tumors; cystadenomas of the epididymis in males, broad ligament of uterus in females; pancreatic cysts, cystadenomas and neuroendocrine tumors. We here report two cases of VHL disease presented with PCC as the first manifestation. Hemangioblastoma of CNS in the first case and PNET in the second case developed during follow- up and led to the diagnosis of VHL disease...
October 12, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28958983/the-association-between-maternal-subclinical-hypothyroidism-and-growth-development-and-childhood-intelligence-a-meta-analysis
#3
Yahong Liu, Hui Chen, Jing Chen, Fupin Li
OBJECTIVES: To explore the association between maternal subclinical hypothyroidism (SCH) in pregnancy and the development of their children. METHODS: Using RevMan 5.3 software, we performed a meta-analysis of cohort studies published from inception to May 2017, focusing on the association between maternal SCH in pregnancy and childhood growth, development and intelligence. Sources included the Cochrane Library, Pub-Med, Web of Science, CNKI, and Wan Fang Data. RESULTS: We included a total of 15 cohort studies involving 1,896 pregnant women with SCH...
September 29, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28943514/a-novel-kcnj11-mutation-associated-with-transient-neonatal-diabetes
#4
Evangelia Gole, Stavroula Oikonomou, Sian Ellard, Elisa De Franco, Kyriaki Karavanaki
BACKGROUND: Neonatal diabetes mellitus (NDM) is a rare type of monogenic diabetes that presents in the first 6 months of life. Activating mutations in the KCNJ11 gene encoding for the Kir6.2 subunit of the KATP channel can lead to transient (TNDM) or permanent neonatal diabetes mellitus (PNDM). CASE REPORT: A female infant presented at the 22nd day of life with severe hyperglycemia and ketoacidosis (glucose: 907mg/dl, blood gas pH: 6.84, HCO3: 6mmol/l). She was initially managed with intravenous (IV) fluids and IV insulin...
September 25, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28943513/neonatal-diabetes-two-cases-with-isolated-pancreas-agenensis-due-to-homozygous-ptf1a-enhancer-mutations-and-one-with-dend-syndrome-due-to-kcnj11-mutation
#5
Olcay Evliyaoğlu, Oya Ercan, Emel Ataloğlu, Ümit Zübarioğlu, Bahar Özcabı, Aydilek Dağdeviren, Hande Erdoğan, Elisa De Franco, Sian Ellard
Neonatal diabetes mellitus is a rare form of monogenic diabetes which is diagnosed in the first 6 months of life. Here we report three patients with neonatal diabetes; two with isolated pancreas agenesis due to mutations in the PTF1A enhancer and one with DEND syndrome (developmental delay, epilepsy, and neonatal diabetes) due to a KCNJ11 mutation. The two cases with mutations in the distal enhacer of PTF1A had a homozygous g.23508363A>G and a homozygous g.23508437A>G mutation respectively. Previous functional analysis showed that these mutations can decrease expression of PTF1A which is involved in pancreas development...
September 25, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28943512/prevalence-of-znt8-antibody-in-turkish-children-and-adolescents-with-new-onset-type-1-diabetes
#6
Selin Elmaoğulları, Seyit Ahmet Uçaktürk, Şehri Elbeg, Esra Döğer, Meltem Tayfun, Fatih Gürbüz, Aysun Bideci
OBJECTIVE: Zinc transporter 8 protein (ZnT8) is a transmembranic protein organizing the zinc transfer to insulin vesicles. Antibodies formed against ZnT8 (ZnT8A) are regarded as an independent autoimmunity demonstrator in type 1 diabetes (T1D) diagnosis Investigation of ZnT8ab prevalence in Turkish children with new onset T1D was planned in this study. METHODS: 84 patients between 1-18 years of age diagnosed with T1D between February 2015- March 2016 and the control group consisting of 50 healthy children without any autoimmune diseases were included in the study...
September 25, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28943511/can-pediatric-surgeons-become-truly-experienced-for-thyroid-surgery-on-a-universal-scale
#7
İrem İnanç, Atakan Sezer, Mustafa İnan
No abstract text is available yet for this article.
September 25, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28901944/vitamin-d-deficiency-in-pregnant-women-and-their-infants
#8
Abdurrahman Avar Özdemir, Yasemin Ercan Gündemir, Mustafa Küçük, Deniz Yıldıran Sarıca, Yusuf Elgörmüş, Yakup Çağ, Günal Bilek
OBJECTIVE: Vitamin D deficiency is a serious health problem although the improvement in socio-economic status in Turkey. The aim of this study was to evaluate the maternal vitamin D status and their effect on neonatal vitamin D status after support program for pregnant women and to detect risk factors for vitamin D deficiency in Bağcılar region in İstanbul. METHODS: A total of 97 pregnant women and 90 infants were included in this study between January and October 2016...
September 13, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28901943/a-meta-analysis-and-the-evaluation-of-trends-in-obesity-prevalence-among-children-and-adolescents-aged-5-19-in-turkey-1990-through-2015
#9
Züleyha Alper, İlker Ercan, Yeşim Uncu
Objective Obesity in childhood and adolescence period, is one of the most serious public health problems with it's remarkable increased prevalence and it is correlated with the increased adult morbidity and mortality due to its causing noncommunicable diseases such as diabetes and hypertension. This study aims to identify the secular trend by performing meta-analysis of childhood and adolescent obesity prevalence studies conducted in different regions of our country since 1990 to 2015. Methods Uludag University Library Database was searched for relevant articles published prior to March 2017...
September 13, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28874334/girl-with-idiopathic-childhood-hypercalcemia-reveals-new-disease-causing-cyp24a1-mutation
#10
Jens Otto Broby Madsen, Sabrina Sauer, Bodo Beck, Jesper Johannesen
CONTEXT: Idiopathic Infantile Hypercalcemia (IHH) was associated with vitamin-D supplementation in the 1950's. 50 years later mutations in the CYP241A gene, involved in the degradation of vitamin-D, have been identified as being a part of the etiology. CASE DESCRIPTION: We hereby report a case of a 21 months old girl initially hospitalized due to excessive consumption of water and behavioral difficulties. Blood tests showed hypercalcemia, borderline high vitamin-D levels, and renal ultrasound revealed medullary nephrocalcinosis...
September 6, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28836496/metachronuous-synovial-sarcoma-after-treatment-of-mixed-germ-cell-tumor-in-a-child-of-complet-gonodal-dysgenesis
#11
Feryal Karahan, Elvan Çağlar Çıtak, Emel Yaman, Mehmet Alakaya, Fatih Sağcan, Eda Bengi Yılmaz, Funda Kuş, İclal Gürses, Yüksel Balcı
A complet XY gonadal dysgenesis (GD) shows a high predisposition to germ cell tumor (GCT). Patients with coexistence of GCT and GD were reported before but here, we present a 15 year-old girl with mixed GCT and GD and also having intra-abdominal synovial sarcoma one year after the treatment.
August 24, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28836495/letter-to-the-editor-regarding-assessment-of-retinal-nerve-fiber-layer-thickness-in-non-diabetic-obese-children-and-adolescents
#12
Ömer Kartı
No abstract text is available yet for this article.
August 24, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28825592/the-evaluation-of-cases-with-y-chromosome-gonadal-dysgenesis-clinical-experience-for-18-years
#13
Merih Berberoğlu, Zeynep Şıklar
OBJECTIVE: Y-chromosome gonadal dysgenesis (GD) is a rare subgroup of disorders of sexual development (DSD) which results from underdeveloped testis, which may consist heterogenous symptoms. They are phenotypically classified into 2 groups as complete and partial; while karyotypic description was as 46,XY GD and 45,X/46,XY GD. METHODS: Thirty eight cases were followed-up between 1998 and 2016. The age of admission were within 0 to 17,16 decimal years. Clinical and laboratory findings as well as follow-up characteristics of cases were evaluated retrospectively from the patient reports...
August 21, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28825591/psychometric-properties-of-the-turkish-version-of-the-university-of-virginia-parent-low-blood-sugar-survey
#14
Nesrin Şen Celasin, Çağrı Çövener Özçelik, Şükriye Şahin
OBJECTIVE: The aim of this study was to perform the Turkish adaptation study of the University of Virginia Parent Low Blood Sugar Survey (P-LBSS). METHODS: The sample included 390 parents of adolescents aged 12-17 years with type 1 diabetes. Linguistic, content, and face validity of the P-LBSS was tested. Afterwards, explanatory and confirmatory factor analyses were conducted in order to evaluate construct validity. RESULTS: Results of the factor analysis showed that the P-LBSS had 2 subscales (Behavior and Worry) as in the original scale...
August 21, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28825590/high-prenatal-exposure-to-bisphenol-a-reduces-anogenital-distance-in-healthy-male-newborns
#15
Emil Mammadov, Murat Uncu, Ceyhun Dalkan
OBJECTIVE: To estimate the relationship between cord blood BPA levels and anogenital measurements in healthy newborns. METHODS: Pregnancy and birth history together with body mass and length data, anogenital measurements, penile measurements and cord blood samples were obtained from healthy newborns. Total serum concentration of BPA was analyzed by sandwich enzyme - linked immunosorbent assays (ELISA) kit (General Bisphenol A ELISA, MyBioSource, Inc., San Diego, CA, USA) with a Spectramax M5 Series Multi-Mode Microplate Reader (Molecular Devices, Sunnyvale, CA, USA)...
August 21, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28825589/effect-of-intrahepatic-cholestasis-of-pregnancy-on-neonatal-birth-weight-a-meta-analysis
#16
Li Li, Yuan Hua Chen, Yuan Yuan Yang, Lin Cong
OBJECTIVE: To evaluate the effect of intrahepatic cholestasis of pregnancy (ICP) on neonatal birth weight. METHODS: Potential articles were identified by searching PubMed and Web of Science databases through April 30, 2017. Using the Mantel-Haenszel random-effects or fixed-effects model, outcomes were summarized through weighted mean difference (WMD) and 95% confidence intervals (CI). Potential publication bias was tested using the funnel plot and the method of Egger's regression and Begg's test...
August 21, 2017: Journal of Clinical Research in Pediatric Endocrinology
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
#17
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
#18
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
#19
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
#20
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
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