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Journal of Clinical Research in Pediatric Endocrinology

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https://www.readbyqxmd.com/read/28094762/persistent-mullerian-duct-syndrome-with-transverse-testicular-ectopia-a-novel-amh-receptor-mutation
#1
Özlem Korkmaz, Samim Özen, Nurhan Özcan, Petek Bayındır, Sait Şen, Hüseyin Onay, Damla Gökşen, Ali Avanoğlu, Ferda Özkınay, Şükran Darcan
Persistent Mullerian duct syndrome is the result of either anti-Mullerian hormone (AMH) deficiency or AMH receptor resistance. A long tubular structure (testis/?) was palpated during the physical examination of a 13-month-old male patient who admitted because of bilateral undescended testes. Structures suggestive of ovaries, a uterus and fallopian tubes were observed during laparoscopic examination of the ectopic testis. AMHR2 gene sequence analysis performed wıth a preliminary diagnosis of AMH receptor resistance revealed a previously unreported homozygous c...
January 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28077344/detection-of-h-fabp-heart-type-fatty-acid-binding-protein-levels-in-diabetic-ketoacidosis-and-identification-of-early-cardiac-effects-of-ketoacidosis
#2
Fatma Hilal Yılmaz, Sevil Arı Yuca, Hüsamettin Vatansev, Emine Ayça Cimbek, Yaşar Şen, İsa Yılmaz, Fikret Akyürek, Derya Arslan, Derya Çimen, Alaadin Yorulmaz
OBJECTIVE: This is study aims to measure the level of serum 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.The h-FABP, creatine kinase-MB (CK-MB), and troponin-I levels were studied in patients with DKA and DK as well as in the control group at the time of presentation...
January 12, 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
#3
Cemil Koçyiğit, Gönül Çatlı, Gülberat İnce, Elif Büşra Özkan, Bumin Nuri Dündar
OBJECTIVE: Stoss treatment has also been suggested due to non-skeletal benefits of vitamin D in adults, but no sufficient data are present about the optimal dose of vitamin D replacement 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...
January 12, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28077341/irisin-and-oxytocin-as-predictors-of-metabolic-parameters-in-obese-children
#4
Ciğdem Binay, Cem Paketçi, Savaş Güzel, Nedim Samancı
OBJECTIVE: Irisin and oxytocin can affect energy homeostasis and have been proposed to play an important role in reducing obesity and diabetes. We aimed to determine the relationship between metabolic parameters (including irisin and oxytocin levels) and anthropometric parameters in obese children. METHODS: Ninety obese children (mean age, 13.85 ± 1.63 years) and 30 healthy controls (mean age, 14.32 ± 1.58 years) were enrolled in this study. Anthropometric and laboratory parameters (glucose, insulin, lipid, oxytocin, and irisin levels) were analysed...
January 12, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28077340/clinicopathological-characteristics-of-papillary-thyroid-cancer-in-children-with-emphasis-on-the-pubertal-status-and-association-with-brafv600e-mutation
#5
Şükran Poyrazoğlu, Rüveyde Bundak, Firdevs Baş, Gülçin Yeğen, Yasemin Şanlı, Feyza Darendeliler
OBJECTIVE: Papillary thyroid cancer (PTC) could behave differently in prepubertal than in pubertal children and between children and adults. BRAF gene activating mutations may associate with PTC by creating aberrant activation. We aimed to evaluate clinicopathological characteristics of PTC patients with emphasis on the pubertal status and investigate the association of BRAFV600E mutation with disease characteristics. METHODS: Medical records of 75 patients with PTC were reviewed retrospectively...
January 12, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28044993/higher-than-conventional-subcutaneous-regular-insulin-doses-following-diabetic-ketoacidosis-are-associated-with-better-short-term-glycemic-control-in-children-and-adolescents
#6
Özlem Bağ, Selma Tunç, Özlem Nalbantoğlu, Çiğdem Ecevit, Aysel Öztürk, Behzat Özkan, Korcan Demir
OBJECTIVE: While some guidelines recommend 0.5-1.0 units/kg/d of subcutaneous insulin following resolution of diabetic ketoacidosis (DKA), up to 2 units/kg/d of insulin is used in various centers. The aim of this study is to evaluate the effect of initial insulin dosage on glycemic control in first 48 hours of subcutaneous regular insulin therapy after DKA. METHODS: Hospital records of patients with DKA in the last 3 years [n=76, median (25th - 75th percentile) age=10...
December 30, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28044991/age-specific-frequencies-and-characteristics-of-ovarian-cysts-in-children-and-adolescents
#7
Hamdi Cihan Emeksiz, Okşan Derinöz, Esra Betül Akkoyun, Faruk Güçlü Pınalı, Aysun Bideci
OBJECTIVE: The aim of the present study was to document ovarian cyst frequency and characteristics, as well as distribution of these parameters with respect to age in children and adolescents. METHODS: We retrospectively analyzed the medical records of 1009 girls between the ages of 5-18 years who presented to pediatric emergency department with pelvic pain and therefore underwent pelvic ultrasound examination between June 2011 and May 2014. RESULTS: In total, 132 of 1009 girls (13...
December 30, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28008865/the-relationship-of-serum-zonulin-level-with-clinical-and-laboratory-parameters-in-childhood-obesity
#8
Tuncay Küme, Sezer Acar, Hale Tuhan, Gönül Çatlı, Ahmet Anık, Özlem Gürsoy Çalan, Ece Böber, Ayhan Abacı
OBJECTIVE: The aim of this study was to investigate the relationship between zonulin and clinical laboratory parameters in childhood obesity. METHODS: The study included obese children with a body mass index >95th percentile and healthy children who were similar age and gender distribution. Clinical (body mass index, waist circumferences, mid arm circumference, triceps skin fold, percentage of body fat, systolic blood pressure, diastolic blood pressure) and biochemical (glucose, insulin, lipids, thyroid function tests, cortisol, zonulin and leptin levels) parameters were measured...
December 23, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28008864/idiopathic-hypogonadothropic-hypogonadism-due-to-novel-fgfr1-mutations
#9
Gamze Akkuş, Damla Kotan, Erdem Durmaz, Eda Mengen, İhsan Turan, Ayça Ulubay, Fatih Gürbüz, Bilgin Yüksel, Tamer Tetiker, Ali Kemal Topaloğlu
OBJECTIVE: Underlying genetic etiology of Hypogonadothropic Hypogonadism (HH) is heterogenous. Fibroblast growth factor signaling is pivotal in the ontogeny of GnRH neurons. Loss of function mutations inFGFR1 gene cause variable hypogonadothropic hypogonadism phenotype encompassing pubertal delay to IHH or KS. As FGFR1 mutations are common, recognizing mutations and associated phenotypes may enhance clinical management. METHODS: Using a candidate gene approach we screened 52 IHH/KS patients...
December 23, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28008863/association-of-obesity-in-children-and-adolescents-with-parental-weight-status-the-weight-disorder-survey-of-the-caspian-iv-study
#10
Maryam Bahreynian, Mostafa Qorbani, Bita Moradi Khaniabadi, Mohammad Esmaeil Motlagh, Omid Safari, Hamid Asayesh, Roya Kelishadi
OBJECTIVE: This study aims to assess the relationship of the body mass index (BMI) of children and their parents in a nationally-representative sample of Iranian population. METHODS: This cross-sectional nationwide study was conducted in 2011-2012 among 6-18 years students and their parents, living in 30 provinces of Iran. Socio-demographic information was collected. Student's BMI was categorized according to the World Health Organization (WHO) reference curves...
December 23, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28008862/subclinical-hypothyroidism-in-children-may-lead-to-dyslipidemia-and-increased-carotid-intima-media-thickness
#11
Edip Ünal, Alper Akın, Ruken Yıldırım, Vasfiye Demir, İsmail Yıldız, Yusuf Kenan Haspolat
OBJECTIVE: Subclinical hypothyroidism (SH) is defined as elevated serum thyroid stimulating hormone (TSH) level with normal range of free thyroxine (fT4). There are very few studies in the literature reporting on the effect of SH on lipid metabolism and carotid intima-media thickness (CIMT) in children. METHODS: The study included 38 children diagnosed with SH and a control group comprising 38 healthy, euthyroid children. Subclinical hypothyroidism was diagnosed based on elevated TSH level (4...
December 23, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28008861/delayed-diagnosis-of-a-17-hydroxylase-17-20-lyase-deficient-case-presented-with-46-xy-female-low-normal-potassium-can-alert-clinician
#12
Emine Çamtosun, Zeynep Şıklar, Serdar Ceylaner, Pınar Kocaay, Merih Berberoğlu
17-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive defect in adrenal and gonadal steroidogenesis, causes absence of secondary sexual characteristics frequently associated with hypertension and hyperkalemia. Here we report a 46, XY case, who had normal potassium levels and without hypertension. Here we present a 2,5 years old female admitted with female external genitalia and inguinal swelling. Pathology of biopsy revealed that this gonad is a testis. Karyotype was 46, XY. She had no hypertension and no hypokalemia...
December 23, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28008860/basal-serum-neurokinin-b-level-can-be-used-to-differentiate-idiopathic-central-precocious-puberty-from-premature-thelarche-in-girls
#13
Mesut Parlak, Doğa Türkkahraman, Hamit Yaşar Ellidağ, Gamze Çelmeli, Ayşe Eda Parlak, Necat Yılmaz
OBJECTIVE: The aim of the study is to investigate the diagnostic role of kisspeptin and neurokinin B in idiopathic central precocious puberty (ICPP) and premature thelarche (PT). METHODS: The girls who presented with early breast development before the age of 8 years were evaluated. Basal and stimulated FSH, LH levels and basal neurokinin B and kisspeptin levels were measured. Patients who had peak LH > 5mIU/mL, and a bone age (BA) /chronological age (CA) ratio >1...
December 23, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27908842/role-of-versican-and-adamts-1-in-polycystic-ovary-syndrome
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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