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Journal of Clinical Research in Pediatric Endocrinology

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https://www.readbyqxmd.com/read/27908842/role-of-versican-and-adamts-1-in-polycystic-ovary-syndrome
#1
Sibel Özler, Efser Öztaş, Aytekin Tokmak, Merve Ergin, Meryem Pekcan Kuru, Başak Güler Gümüş, Halil İbrahim Yakut, Nafiye Yılmaz
OBJECTIVE: Background: ADAMTS-1 is a matrix metalloproteinase which cleaves versican in the cumulus oocyte complex, under the effect of luteinizing hormone surge in the periovulatory period. Altered levels of it may have a role in the disease pathogenesis. OBJECTIVE: We aimed to detect serum versican and a disintegrin and metalloproteinase with thrombospondin motif- 1 (ADAMTS-1) levels in polycystic ovary syndrome (PCOS) patients, and compare the results with the healthy controls...
December 2, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27908841/study-of-gene-polymorphisms-of-glutathione-s-transferase-t1-m1-in-egyptian-children-and-adolescents-with-type-1-diabetes-mellitus
#2
Naglaa Barseem, Mona Elsamalehy
OBJECTIVE: To evaluate the association of glutathione S- transferase mu 1 (GST M1) and glutathione S- transferase theta 1 (GST T1) polymorphisms with the development of T1DM and disease-related risk factors. METHODS: Sixty-four diabetic children and 41 controls were enrolled and subjected to fasting glucose, serum creatinine, lipid profile, HbA1c and evaluation of GST T1 and M1 genetic polymorphisms using polymerase chain reaction (PCR). RESULTS: There were significantly higher fasting glucose, glycosylated hemoglobin (HbA1c) and cholesterol in the diabetics...
December 2, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27873740/response-to-the-anastrozole-treatment-in-a-case-with-peutz-jeghers-syndrome-who-was-detected-to-have-large-cell-calcifying-sertoli-cell-tumor-and-developed-pre-pubertal-gynecomastia
#3
Merve Koç Yekedüz, Zeynep Şıklar, Berk Burgu, Zarife Kuloğlu, Pınar Kocaay, Emine Çamtosun, Mehmet İsakoca, Aydan Kansu, Tarkan Soygür, Merih Berberoğlu
Peutz-Jeghers Syndrome (PJS) is inherited as an autosomal dominant trait which is characterized by multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of neoplasm. Large Cell Calcifying Sertoli Cell Tumor (LCCSCT) is a kind of sex cord-stromal tumor, often bilateral and multifocal, accounting for 0.4 -1.5% of entire testicular tumors which may co-exist with PJS and is characterized radiologically by calcification foci within the testes. Surgical treatment options for this tumor range from testis-preserving surgery to radical orchiectomy...
November 22, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27840329/congenital-hypothyroidism-and-bone-remodeling-cycle
#4
Nazmi Mutlu Karakaş, Sibel Tulgar Kınık, Beril Özdemir, Nursel Muratoğlu Şahin, Mustafa Ağah Tekindal, Ayşegül Haberal
OBJECTIVE: The present study aimed to evaluate the biochemical markers of bone turnover in children with congenital hypothyroidism who had been followed-up during the course of treatment, and in healthy children selected as controls. METHODS: Study included 31 children with congenital hypothyroidism and 29 healthy children. In both groups, we evaluated serum procollogen type-1 N-terminal propeptide (PINP) and tartrate-resistant acid phosphatase type 5b isoform (TRACP 5b) levels as bone turnover markers...
November 9, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27840328/is-menarcheal-age-associated-with-the-risk-of-type2-diabetes
#5
Maryam Farahmand, Fahimeh Ramezani Tehrani, Marzieh Rostami Dovom, Fereidoun Azizi
OBJECTIVE: It has been discussed that early menarche is associated with higher risk of type 2 diabetes. We aimed to explore the association between age at menarche with risk of type 2 diabetes in a population based cohort study. METHODS: For the purpose of the present study, 5191 reproductive age participants of the Tehran Lipid and Glucose Study who met the eligibility criteria were selected. Data on demographic, lifestyle, reproductive, anthropometric and risk factors for metabolic diseases were collected...
November 9, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27796266/the-effectiveness-of-cinacalcet-as-an-adjunctive-therapy-for-hereditary-1-25-dihydroxyvitamin-d3-resistant-rickets
#6
Ayşehan Akıncı, İsmail Dündar, Meltem Kıvılcım
: High doses of oral calcium or long-term calcium infusions are recommended to correct the hypocalcemia and secondary hyperparathyroidism in patients with hereditary 1-25 dihydroxyvitamin D3 resistant rickets (HVDRR). Preliminary studies revealed that calcimimetics may be safe and effective therapeutic choise in children with secondary hyperparathyroidism. Our aim was to observe the efficacy of cinacalcet on the normalization of secondary hyperparathroidism and hypophosphatemia in two siblings with VDRR who did not respond to traditional therapy regimes...
October 31, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27796265/a-rare-cause-of-short-stature-patient-with-3m-syndrome-revealed-a-novel-mutation-in-obsl1-gene
#7
Meliksah Keskin, Nursel Muratoğlu Şahin, Erdal Kurnaz, Elvan Bayramoğlu, Senay Şavas Erdeve, Zehra Aycan, Semra Çetinkaya
The 3M syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features and skeletal abnormalities with normal intelligence. A 16 months old female patient had been referred to our clinic due to short stature. Case history revealed a birth weight of 1740 grams on 39th week of gestation, with a birth length of 42 cm and no prior hereditary conditions of clinical significance in her family. On physical examination, her height was 67 cm (-3.6 SD score), body weight was 7.2 kg (-2.9 SD score) with a head circumference of 42 cm (below 3rd percentile)...
October 31, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27796263/uniparental-isodisomy-of-chromosome-1-unmasking-an-autosomal-recessive-3-beta-hydroxysteroid-dehydrogenase-type-ii-related-congenital-adrenal-hyperplasia
#8
Karin Panzer, Osayame Ekhaguere, Benjamin Darbro, Cook Jennifer, Oleg Shchelochkov
BACKGROUND: Steroid 3-beta hydroxysteroid dehydrogenase type II deficiency is a rare autosomal recessive form of congenital adrenal hyperplasia. We report the genetic basis of 3-beta hydroxysteroid dehydrogenase type II deficiency arising from uniparental isodisomy of chromosome 1. CLINICAL CASE: We describe a term undervirilized male whose newborn screen indicated borderline congenital adrenal hyperplasia. He presented on day of life 7 in salt-wasting adrenal crisis...
October 31, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27660068/neck-circumference-to-assess-obesity-in-preschool-children-as-a-predictor
#9
Meda Kondolot, Duygu Horoz, Serpil Poyrazoğlu, Arda Borlu, Ahmet Öztürk, Selim Kurtoğlu, Mümtaz M Mazicioğlu
OBJECTIVE: Limited information is available about the use of neck circumference (NC) to determine the obesity in preschool children. This study aims to provide NC percentiles and determine the cut-off levels of NC as an additional measurement for obesity in preschool children. METHODS: The data was obtained from the Anthropometry of Turkish Children aged 0-6 years (ATCA-06) study database. A total of 21 Family Health Centers were chosen and children aged 2-6 years old were randomly selected according to the socioeconomic level from the list of district midwives...
September 23, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27612192/association-between-endocrinologic-diseases-and-serous-otitis-media-in-children
#10
Murat Kocyigit, Taliye Cakabay, Safiye G Ortekin, Teoman Akcay, Guven Ozkaya, Selin Ustun Bezgin, Melek Yildiz, Mustafa Kemal Adali
OBJECTIVE: Otitis media with effusion (OME) is a condition in which fluid is retained in the middle ear cavity, but without otalgia, fever, and other symptoms. The incidence of endocrinological disorders has been increasing, but the association between endocrinological disorders and OME has not yet been determined. In this study, it was aimed to investigate the presence of OME in children diagnosed with an endocrinological disease and their relationship with each other. METHODS: Our study was done with 918 children patients (440 boys, 478 girls; mean age: 8...
September 9, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27612026/clinical-and-mutational-features-of-three-chinese-children-with-congenital-generalized-lipodystrophy
#11
Xueying Su, Ruizhu Lin, Yonglan Huang, Huiying Sheng, Xiaofei Li, Tzer Hwu Ting, Li Liu, Xiuzhen Li
OBJECTIVE: To investigate the clinical and molecular features of three Chinese patients with various typical manifestations of congenital generalized lipodystrophy (CGL). METHODS: Clinical symptoms, results of laboratory analyses, and data on previous treatments in three Chinese patients were collected by retrospective review of medical records. All coding regions and adjacent exon-intron junction regions of AGPAT2 and BSCL2 genes were amplified by polymerase chain reaction and sequenced...
September 9, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27611926/the-effect-of-congenital-and-postnatal-hypothyroidism-on-depression-like-behavior-in-juvenile-rats
#12
Erdoğan Özgür, Börte Gürbüz Özgür, Hatice Aksu, Gökhan Cesur
OBJECTIVE: The aim of this study was to investigate the depression-like behaviors of juvenile rats with congenital and postnatal hypothyroidism. METHODS: Twenty seven newborn rat pups were used. First, 6-month old Wistar Albino female rats were impregnated. Methimazole (0.025% wt/vol) was given to dam rats from the first day of pregnancy until postnatal 21 days (P21) to generate pups with congenital hypothyroidism (n=8), whereas in the postnatal hypothyroidism group (n=10) methimazole was given from P0 to P21...
September 9, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27611842/neonatal-screening-for-congenital-hypothyroidism-in-razavi-khorasan-province-iran
#13
Mostafa Mazloum Farsi Baf, Mozhgan Mazloum Farsi Baf, Fatemeh Noorollahi, Morteza Mazloum Farsi Baf
OBJECTIVE: Congenital hypothyroidism (CH) is one of the most common treatable causes of mental retardation and neurodevelopmental impairment. METHODS: In a cross-sectional study, 114342 neonates born in 28 cities in Razavi Khorasan province, northeastern Iran from Aril 2013 to March 2014, were screened for congenital hypothyroidism by taking blood sample from heel prick. The newborns with TSH ≥5 mIU/L were recalled for further assessment of TSH concentration in serum sample...
September 9, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27611730/subclinical-hypothyroidism-in-danish-lean-and-obese-children-and-adolescents
#14
Maria Dahl, Johanne Dam Ohrt, Cilius Esmann Fonvig, Julie Tonsgaard Kloppenborg, Oluf Pedersen, Torben Hansen, Jens Christian Holm
OBJECTIVE: Thyroid abnormalities are common in obese children. The aim of the present study was to examine the prevalence of subclinical hypothyroidism (SH) and to determine how circulating thyroid hormone concentrations correlate with anthropometrics in Danish lean and obese children and adolescents. METHODS: We included 3,006 children and adolescents, aged 6-18 years, from the Registry of the Danish Childhood Obesity Biobank in this cross-sectional study. The overweight/obese group (n=1,796) consisted of study participants with a body mass index (BMI) standard deviation score (SDS) ≥1...
September 9, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27611604/effect-of-cytokine-signaling-3-gene-polymorphisms-in-childhood-obesity
#15
Mehmet Boyraz, Ediz Yeşilkaya, Fatih Ezgü, Aysun Bideci, Haldun Doğan, Korkut Ulucan, Peyami Cinaz
OBJECTIVE: Although polymorphisms in suppressor of cytokine signaling 3 (SOCS3) was reported to be related to obesity, metabolic syndrome and type 2 diabetes in various adult studies, there is a lack of data in children. In this study, we examined eight reported polymorphisms of SOCS3 in obese Turkish children with and without metabolic syndrome and compared the results with that of controls. METHODS: 148 obese and 63 age and sex matched control children were enrolled in the study...
September 9, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27181494/crouzonodermoskeletal-syndrome-with-hypoplasia-of-corpus-callosum-and-inferior-vermis
#16
Fatih Gürbüz, Serdar Ceylaner, Ali Kemal Topaloğlu, Bilgin Yüksel
No abstract text is available yet for this article.
September 1, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27180947/the-association-between-serum-25-hydroxy-vitamin-d-level-and-urine-cathelicidin-in-children-with-a-urinary-tract-infection
#17
Duygu Övünç Hacıhamdioğlu, Demet Altun, Bülent Hacıhamdioğlu, Ferhat Çekmez, Gökhan Aydemir, Mustafa Kul, Tuba Müftüoğlu, Selami Süleymanoğlu, Ferhan Karademir
OBJECTIVE: Cathelicidin is an important antimicrobial peptide in the urinary tract. Cathelicidin expression is strongly stimulated by 1,25-dihydroxy vitamin D in epithelial cells, macrophages/monocytes, and neutrophils. Vitamin D and cathelicidin status in children with urinary tract infection (UTI) caused by Escherichia coli is unknown. To establish the relationship between serum vitamin D and urine cathelicidin levels in children with a UTI caused by Escherichia coli. METHODS: Serum 25-hydroxy vitamin D and urine cathelicidin levels were measured in 36 patients with UTI (mean age 6...
September 1, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27125339/anti-m%C3%A3-llerian-hormone-and-inhibin-a-but-not-inhibin-b-or-insulin-like-peptide-3-may-be-used-as-surrogates-in-the-diagnosis-of-polycystic-ovary-syndrome-in-adolescents-preliminary-results
#18
Aylin Yetim, Çağcıl Yetim, Firdevs Baş, Oğuz Bülent Erol, Gülnaz Çığ, Ahmet Uçar, Feyza Darendeliler
OBJECTIVE: Polycystic ovary syndrome (PCOS) is a common endocrine problem in adolescents with an increasing prevalence of 30%. Pursuing new biomarkers with high specificity and sensitivity in the diagnosis of PCOS in adolescents is currently an active area of research. We aimed to investigate the diagnostic value of anti-Müllerian hormone (AMH), insulin-like peptide-3 (INSL3), inhibin-A (INH-A), and inhibin-B (INH-B) in adolescents with PCOS and also to determine the association, if any, between these hormones and clinical/laboratory findings related with hyperandrogenism...
September 1, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27125300/the-growth-characteristics-of-patients-with-noonan-syndrome-results-of-three-years-of-growth-hormone-treatment-a-nationwide-multicenter-study
#19
Zeynep Şıklar, Mikayir Genens, Şükran Poyrazoğlu, Firdevs Baş, Feyza Darendeliler, Rüveyde Bundak, Zehra Aycan, Şenay Savaş Erdeve, Semra Çetinkaya, Ayla Güven, Saygın Abalı, Zeynep Atay, Serap Turan, Cengiz Kara, Gülay Can Yılmaz, Nesibe Akyürek, Ayhan Abacı, Gamze Çelmeli, Erkan Sarı, Semih Bolu, Hüseyin Anıl Korkmaz, Enver Şimşek, Gönül Çatlı, Muammer Büyükinan, Atilla Çayır, Olcay Evliyaoğlu, Pınar İşgüven, Tolga Özgen, Nihal Hatipoğlu, Atilla Halil Elhan, Merih Berberoğlu
OBJECTIVE: Noonan syndrome (NS) is a multisystem disorder, and short stature is its most striking manifestation. Optimal growth hormone (GH) treatment for NS is still controversial. In this study, using a nationwide registration system, we aimed to evaluate the growth characteristics and the clinical features of NS patients in Turkey and their growth response to GH treatment. METHODS: Children and adolescents with a diagnosis of NS were included inthe study. Laboratory assessment including standard GH stimulation test results were evaluated...
September 1, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27125267/corticosterone-methyl-oxidase-deficiency-type-1-with-normokalemia-in-an-infant
#20
Ala Üstyol, Mehmet Emre Atabek, Norman Taylor, Matthew Chun-Wing Yeung, Angel O K Chan
Isolated aldosterone synthase deficiency may result in life-threatening salt-wasting and failure to thrive. The condition involves hyperkalemia accompanying hyponatremia. Two types of aldosterone synthase deficiency may be observed depending on hormone levels: corticosterone methyl oxidase type 1 (CMO 1) and CMO 2. Herein, we describe a Turkish infant patient with aldosterone synthase deficiency who presented with failure to thrive and salt wasting but with normal potassium levels. Urinary steroid characteristics were compatible with CMO I deficiency...
September 1, 2016: Journal of Clinical Research in Pediatric Endocrinology
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