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Journal of Clinical Research in Pediatric Endocrinology

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https://www.readbyqxmd.com/read/30525344/magnesium-and-anti-phosphate-treatment-with-bisphosphonates-for-generalised-arterial-calcification-of-infancy-a-case-report
#1
Fatma Dursun, Tülay Atasoy Öztürk, Serçin Güven, Heves Kırmızıbekmez, Gülcan Seymen Karabulut, Sevinç Kalın, Betül Sözeri
Generalized arterial calcification of infancy (GACI) is a rare autosomal- recessive disorder characterized by calcification of the internal elastic lamina, fibrotic myointimal proliferation of muscular arteries, and resultant arterial stenosis. Treatment with bisphosphonates has been proposed as a means of reducing arterial calcifications in GACI patients, although there is no formalized treatment approach. The case reported here is a patient with severe GACI diagnosed at 3 months of age who had no response to bisphosphonate treatment, but clinically improved after the initiation of magnesium and anti-phosphate (calcium carbonate) treatments...
December 11, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/30488822/management-of-thyrotoxicosis-in-children-and-adolescence-a-turkish-multi-center-experience
#2
Ihsan Esen, Elvan Bayramoğlu, Melek Yıldız, Murat Aydın, Esin Karakılıç Özturhan, Zehra Aycan, Semih Bolu, Hasan Önal, Yılmaz Kör, Deniz Ökdemir, Edip Ünal, Aşan Önder, Olcay Evliyaoğlu, Atilla Çayır, Mehmet Taştan, Ayşegül Yüksel, Aylin Kılınç, Muammer Büyükinan, Bahar Özcabı, Onur Akın, Çiğdem Binay, Suna Kılınç, Ruken Yıldırım, Emel Hatun Aytaç, Elif Sağsak
OBJECTIVE: To determine demographic and biochemical features of childhood and juvenile thyrotoxicosis and determine the treatment outcomes in them. METHODS: We reviewed records of 503 children from in 12 different cities of Turkey who were diagnosed with thyrotoxicosis between 2007 to 2017. RESULTS: In all, 375 (74.6%) patients had been diagnosed with Graves' disease (GD) and 75 (14.9%) had hashitoxicosis, and 53 (10.5%) had been diagnosed with uncommon causes of thyrotoxicosis...
November 29, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/30468149/perinatal-form-hypophosphatasia-caused-by-a-novel-large-duplication-of-alpl-gene-and-one-year-follow-up-under-enzyme-replacement-therapy-a-case-report
#3
Bülent Hacıhamdioğlu, Gamze Özgürhan, Catarina Pereira, Emre Tepeli, Gülşah Acar, Serdar Cömert
Hypophosphatasia is a rare disease caused by mutations in the gene encoding tissue-nonspecific isoenzyme of alkaline phosphatase. Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown that asfotase alfa treatment mineralizes the skeleton and improves respiratory function and survival in severe forms of hypophosphatasia. The newborn was evaluated for respira¬tory failure and generalized hypotonia after birth. Diagnosis of HPP was based on low-serum ALP activity, high levels of substrates of tissue-nonspecific isoenzyme of alkaline phosphatase and radiologic findings...
November 23, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/30468148/a-cleidocranial-dysplasia-case-with-a-novel-mutation-and-growth-velocity-gain-with-growth-hormone-treatment
#4
Emine Çamtosun, Ayşehan Akıncı, Emine Demiral, İbrahim Tekedereli, Ahmet Sığırcı
Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant skeletal disorder that is characterized by hypoplasia or aplasia of clavicles, failure of cranial suture closure, dental anomalies, short stature and other changes in skeletal patterning and growth. The gene responsible for pathogenesis has been mapped on the short arm of chromosome 6p21, Core Binding Factor Alpha-1 ( CBFA1 ) or Runt Related Transcription Factor 2 ( RUNX2 ). Here we describe a CCD patient with a novel mutation in the RUNX2 gene...
November 23, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/30444213/novel-compound-heterozygous-variants-in-the-lhcgr-gene-in-a-genetically-male-patient-with-female-external-genitalia
#5
Mei Yan, Julaiti Dilihuma, Yanfei Luo, Baoerhan Reyilanmu, Yiping Shen, Maimaiti Mireguli
OBJECTIVES: The LHCGR gene encodes a G-protein coupled receptor that plays a pivotal role in sexual differentiation in males, ovarian development in females, and in fertility via its interaction with luteinizing hormone (LH) and chorionic gonadotropin (CG). Inactive variants of the LHCGR gene cause Leydig cell hypoplasia (LCH), which is a rare disease and one of the causes of disorder of sexual differentiation (DSD) in males. The aim of this work is to study the clinical and molecular characteristics of a 2-year-9-month old patient with type 1 LCH...
November 16, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/30396876/urine-levels-of-matrix-metalloproteinases-and-tissue-inhibitor-of-metalloproteinases-in-children-with-type-1-diabetes-mellitus
#6
Zeynep Yürük Yıldırım, Alev Yılmaz, Cemile Pehlivanoğlu, Asuman Gedikbaşı, Mehmet Yıldız, Ahmet Dirican, Rüveyde Bundak, Feyza Darendeliler, Sevinç Emre, Ahmet Nayır
OBJECTIVE: Histopathological changes of the kidney in type 1 diabetes mellitus (T1DM) begin before the microalbuminuria. Therefore, efforts are focused on finding a biomarker for the detection of early diabetic kidney injury. The aim of the study is to determine whether urine levels of indicators of fibrosis alter in diabetic children and if they may predict a progressive renal injury in T1DM. METHODS: Urinary matrix metalloproteinase 2 and 9 (MMP2 and MMP9), tissue inhibitor of metalloproteinase 1 and 2 (TIMP1 and TIMP2), Transforming growth factor βeta-1 (TGF-β1) were assessed in 33 patients with T1DM with normal renal functions as well as in 24 healthy children...
November 6, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/30396880/comparison-of-treatment-regimens-for-the-management-of-severe-hypercalcemia-due-to-vitamin-d-intoxication-in-children
#7
Korcan Demir, Hakan Döneray, Cengiz Kara, Zeynep Atay, Semra Çetinkaya, Atilla Çayır, Ahmet Anık, Erdal Eren, Ahmet Uçaktürk, Gülay Can Yılmaz, Ayça Törel Ergür, Mustafa Kendirci, Zehra Aycan, Abdullah Bereket, Murat Aydın, Zerrin Orbak, Behzat Özkan
BACKGROUND/AIMS: No large study has been conducted so far to compare the efficiencies of prednisolone, alendronate, and pamidronate as first-line treatment in children with hypercalcemia due to vitamin D intoxication. We aimed to perform a multicenter, retrospective study assessing clinical characteristics and treatment results. METHODS: A standard questionnaire was uploaded to an online national database system to collect data of children with hypercalcemia (serum calcium level >10...
November 5, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/30396878/clinical-and-laboratory-characteristics-of-hyperprolactinemia-in-children-and-adolescents-national-survey
#8
Erdal Eren, Ayça Törel Ergür, Şükriye Pınar İşgüven, Eda Çelebi Bitkin, Merih Berberoğlu, Zeynep Şıklar, Firdevs Baş, Servet Yel, Serpil Baş, Elif Söbü, Abdullah Bereket, Serap Turan, Halil Sağlam, Zeynep Atay, Oya Ercan, Tülay Güran, Mehmet Emre Atabek, Hüseyin Anıl Korkmaz, Aylin Kılınç Uğurlu, Ayşehan Akıncı, Esra Döğer, Enver Şimşek, Emine Demet Akbaş, Ayhan Abacı, Ülkü Gül, Sezer Acar, Eda Mengen Uçaktürk, Melek Yıldız, Edip Ünal, Ömer Tarım
OBJECTIVE: We aimed to study the characteristics on admission, diagnosis, treatment, and follow-up of hyperprolactinemic cases in a large multicenter study. METHODS: We reviewed 233 hyperprolactinemic patients under 18 years of age who were followed by different centers. The patients were divided as having microadenomas, macroadenomas, drug-induced hyperprolactinemia, and idiopathic hyperprolactinemia. Complaints of the patients and their treatment (medication and/or surgery) responses were evaluated in detail...
November 5, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/30362325/evaluation-of-normal-thyroid-tissue-and-autoimmune-thyroiditis-in-children-using-shear-wave-elastography
#9
Figen Palabıyık, Ercan İnci, Esra Deniz Papatya Çakır, Elif Hocaoğlu
Objectives: Shear wave elastography (SWE) is an ultrasonographic technique that evaluates tissue elasticity and is user-independent. It is used especially in the evaluation of thyroiditis and in distinguishing malignant-benign thyroiditis from thyroid nodules in adults, but so far no studies have evaluated SWE of the thyroid in children. The aim of this study was to measure the elasticity of normal thyroid tissue in children and adolescents using SWE and to investigate the role of SWE in the diagnosis of autoimmune thyroiditis in childhood...
October 23, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/30362323/diazoxide-causality-assessment-of-a-pericardial-effusion-in-a-child-with-kabuki-syndrome
#10
Irene Maffre, Marie Vincenti, Fabienne Dalla Vale, Cyril Amouroux, Oscar Werner, Alexandra Meilhac, Gaelle de Barry, Pascal Amedro
No abstract text is available yet for this article.
October 23, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/30325337/a-pediatric-case-with-prostaglandin-i-2-associated-thyrotoxicosis-case-report-and-the-literature-review
#11
Yuri Sonoda, Kenichiro Yamamura, Kanako Ishii, Kazuhiro Ohkubo, Kenji Ihara, Yasunari Sakai, Shouichi Ohga
Prostaglandin I2 (PGI2) causes hyperthyroidism, a critical complication in patients with pulmonary arterial hypertension (PAH). However, it remains unknown whether PGI2 may have unfavorable effects on thyroid functions in children with congenital portosystemic venous shunt syndrome (CPSVS). We present a boy with CPSVS who developed PAH at 7 years of age. During the PGI2 therapy, he experienced thyrotoxicosis at 17 years of age. The literature review showed that the past 12 patients with PAH (median 11 years of age) developed hyperthyroidism during 1 to 11 years of PGI2 treatments...
October 16, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/30325336/vaspin-a-compensatory-mechanism-against-high-glucose-levels-since-birth
#12
Citlalli E Hernandez-Rodriguez, Cynthia M Estrada Zuñiga, Manuel E De la O-Cavazos, Fernando F Montes-Tapia, Blanca P Gerez-Martinez, Fernando J Lavalle-Gonzalez, Consuelo Treviño Garza
BACKGROUND: Hormones produced by fat tissue known as adipokines, are produced during intrauterine life and have recently been implicated in fetal growth. Vaspin is a adipokine expressed in visceral adipose tissue and has insulin-sensitizing effects. Elevated vaspin concentrations in serum are associated with alterations in insulin sensitivity. OBJECTIVE: To determine if vaspin concentrations in cord blood of healthy term newborns differ between small (SGA), appropriate (AGA), and large (LGA) for gestational age...
October 16, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/30282619/genetic-and-clinical-characteristics-of-the-patients-with-vitamin-d-dependent-rickets-type-1a
#13
Fatma Dursun, Gamze Özgürhan, Heves Kırmızıbekmez, Ece Keskin, Bülent Hacıhamdioğlu
OBJECTIVE: Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in the 25OHD 1α-hydroxylase gene ( CYB27B1 ). As it may be confused with nutritional rickets and hypophosphatemic rickets, genetic analysis is important for making a correct diagnosis. METHODS: We analysed genomic DNA from 11 patients from 8 different Turkish families. The patients were recruited for our studies if they presented with diagnosis of vitamin D dependent rickets...
October 4, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/30282618/epicardial-fat-thickness-in-children-with-classic-congenital-adrenal-hyperplasia
#14
Kotb Abbass Metwalley, Hekma Saad Farghaly, Abdelrahman Abdelhamid
OBJECTIVE: Epicardial fat thickness (EFT) is an emerging cardiometabolic risk factor and has been shown to be related to atherosclerosis. EFT has not been studied in the context of CAH. This study aimed to evaluate EFT in children with CAH and its relation to carotid intima media thickness (CA-IMT) and left ventricular functions. METHODS: 36 children with classic CAH were compared with 36 healthy controls. All children had confirmed CAH and received steroid substitution therapy...
October 4, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/30282617/the-glucose-control-resistance-scale-gcrs
#15
Maria-Eleni Nikita, Helen M. Hendy, Keith E Williams, Paul L Mueller
OBJECTIVE: While past research found family conflict, disordered eating, body image concerns, and anxious self-doubts may affect glucose control (A1C), available measures of adherence mainly focus on management tasks. The goal of the current study was to combine emotional distress and beliefs with decisions on management in a new measure of adolescent resistance to treatment adherence: the 12-item Glucose Control Resistance Scale (GCRS). METHODS: Participants included 135 adolescents and their parents from a pediatric diabetes clinic...
October 4, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/30257818/efficiency-of-single-dose-of-tolvaptan-treatment-during-the-triphasic-episode-after-surgery-for-craniopharyngioma
#16
Fatih Gürbüz, Mehmet Taştan, İhsan Turan, Bilgin Yüksel
Inappropriate ADH syndrome (SIADH) may develop after intracranial surgery. SIADH in pediatric age is mostly seen in intracranial mass and not only after surgery. The management of these clinical conditions in patients is important for the clinical course of the patient. Fluid restriction is standard therapy in SIADH. Resistant hyponatremic pattern may be encountered in some cases. Vaptans have recently started to be used in hyponatremia due to SIADH. A patient with SIADH of triphasic episode presented to our clinical practice after surgery of craniopharyngioma...
September 27, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/30251957/remarkable-increase-in-the-prevalence-of-overweight-and-obesity-among-school-age-children-in-antalya-turkey-between-2003-and-2015
#17
Gamze Çelmeli, Yusuf Çürek, Zümrüt Arslan Gülten, Mehmet Yardımsever, Mustafa Koyun, Sema Akçurin, İffet Bircan
OBJECTIVE: Because childhood obesity is still a growing problem in the world, we conducted this study aiming to show the trend in obesity (OB) and overweight (OW) prevalence in the last decade, to observe the alteration of OB and OW prevalence according to age groups and to construct the new age and gender specific body mass index (BMI) reference percentile charts for Turkish children living in the city center of Antalya. METHODS: This cross-sectional study includes 1687 school aged children...
September 25, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/30251955/androgen-insensitivity-syndrome-clinical-phenotype-and-molecular-analysis-in-a-single-tertiary-center-cohort
#18
Maria Sol Touzon, Natalia Perez Garrido, Roxana Marino, Pablo Ramirez, Mariana Costanzo, Gabriela Guercio, Esperanza Berensztein, Marco A Rivarola, Alicia Belgorosky
OBJECTIVE: The aim of this study was the molecular characterization of the AR gene as the cause of 46,XY DSD in our population. METHODS: We studied 41 non related 46,XY DSD index cases with characteristics consistent with AIS. Genomic DNA was isolated from peripheral blood leukocytes of all patients and 25 family members from 17 non-related families. RESULTS: The AR gene analysis revealed an abnormal sequence in58.5% of total index patients...
September 25, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29764793/evaluation-of-the-ovarian-reserve-in-adolescents-with-hashimoto%C3%A2-s-thyroiditis-using-serum-anti-m%C3%A3-llerian-hormone-levels
#19
Ezgi Özalp Akın, Zehra Aycan
Objective: This study aims to evaluate ovarian reserve in adolescent girls with Hashimoto’s thyroiditis (HT) by assessment of serum anti-Müllerian hormone (AMH) levels. It was hypothesized that HT decreases ovarian reserve and AMH levels are lower in the HT group. Methods: Thirty HT patients, aged between 10-18 years, and 30 healthy girls as the control group were enrolled in this cross-sectional study. The mean serum AMH levels of the groups were compared using the Mann-Whitney U test...
November 29, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29553042/rohhad-syndrome-a-rare-cause-of-hypothalamic-obesity-report-of-two-cases
#20
Ülkü Gül Şiraz, Deniz Ökdemir, Gül Direk, Leyla Akın, Nihal Hatipoğlu, Mustafa Kendirci, Selim Kurtoğlu
Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes. The underlying causes of the disease have not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations. Currently there are around 80 reported patients although this is likely due to underdiagnosis due to lack of recognition. We present two female patients suspected of ROHHAD due to weight gain starting in early childhood...
November 29, 2018: Journal of Clinical Research in Pediatric Endocrinology
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