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Journal of Pediatric Endocrinology & Metabolism: JPEM

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https://www.readbyqxmd.com/read/28742522/endocrine-aspects-in-cystic-fibrosis
#1
EDITORIAL
Wieland Kiess, Melanie Penke, Louise Kobelt, Tobias Lipek, Constance Henn, Ruth Gausche, Mandy Vogel, Freerk Prenzel
No abstract text is available yet for this article.
July 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28742521/sensitivity-and-specificity-of-cystic-fibrosis-related-diabetes-screening-methods-which-test-should-be-the-reference-method
#2
LETTER
Valérie Boudreau, Catherine Lehoux Dubois, Katherine Desjardins, Marjolaine Mailhot, François Tremblay, Rémi Rabasa-Lhoret
No abstract text is available yet for this article.
July 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28742520/growth-and-pubertal-patterns-in-young-survivors-of-childhood-acute-lymphoblastic-leukemia
#3
Sarah Elitzur, Revital Houri-Shtrecher, Michal Yackobovitz-Gavan, Galia Avrahami, Shlomit Barzilai, Gil Gilad, Yael Lebenthal, Moshe Phillip, Batia Stark, Isaac Yaniv, Shlomit Shalitin
BACKGROUND: Survivors of acute lymphoblastic leukemia (ALL) may experience endocrine dysfunction. This study evaluated growth and pubertal patterns in survivors of childhood ALL. METHODS: Longitudinal assessment of anthropometric measurements and pubertal status was performed in a retrospective cohort of survivors (n=183). Median age at last endocrine visit was 16.1 years (range 8.2-27.6); median follow-up time was 8.7 years (range 3-21.4). RESULTS: Treatment with chemotherapy+prophylactic cranial radiation (pCRT, n=29) was associated with lower mean height standard deviation score (SDS) than chemotherapy alone (n=154) (p=0...
July 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28742519/45-x-46-xy-ovotesticular-disorder-of-sex-development-revisited-undifferentiated-gonadal-tissue-may-be-mistaken-as-ovarian-tissue
#4
Juliana Gabriel Ribeiro de Andrade, Liliana Aparecida Lucci De Angelo Andrade, Gil Guerra-Junior, Andréa Trevas Maciel-Guerra
BACKGROUND: The 45,X/46,XY karyotype has been associated with mixed gonadal dysgenesis (MGD) and ovotesticular disorder of sex development (DSD). Our aim was to revise the diagnosis of ovotesticular DSD in two patients in the context of a retrospective study of 45,X/46,XY subjects with genital ambiguity. CASE PRESENTATION: Patient 1 had a left streak gonad; the right one was considered an ovotestis. Patient 2 had a right testis; the left gonad was considered an ovary...
July 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28742518/severe-hypertriglyceridemia-at-new-onset-type-1-diabetes-mellitus
#5
Tyler Fick, Julie Jack, Amy L Pyle-Eilola, Rohan K Henry
BACKGROUND: Severe hypertriglyceridemia (HTG) as well as diabetic ketoacidosis (DKA) are complications of type 1 diabetes (T1DM). HTG is an exceedingly rare complication in the pediatric population and herein we report a case of HTG at new-onset T1DM in DKA and discuss management and potential complications. CASE PRESENTATION: An 11-year-old previously well patient with a history of fatigue and weight loss presented with: glucose >600 mg/dL, venous blood gas: pH 7...
July 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28742517/type-1-rhizomelic-chondrodysplasia-punctata-with-a-homozygous-pex7-mutation
#6
Nursel Muratoğlu Şahin, Meliha Esra Bilici, Erdal Kurnaz, Melek Pala Akdoğan, Serdar Ceylaner, Zehra Aycan
INTRODUCTION: Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disease characterised by punctate calcifications of non-ossified cartilage epiphyseal centres. The main biochemical marker of all RCDP types is a decrease in the levels of plasmalogens. Additionally, the accumulation of phytanic acid can be used as a differential marker between types of RDCP. Due to the biochemical overlap between types 1 and 5 RCDP, a genetic analysis of these genes should be performed in patients to identify the type...
July 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28727568/atopy-as-a-risk-factor-for-subclinical-hypothyroidism-development-in-children
#7
Marcella Pedullà, Giuseppina Rosaria Umano, Vincenzo Fierro, Francesco Capuano, Anna Di Sessa, Pierluigi Marzuillo, Laura Perrone, Emanuele Miraglia Del Giudice
BACKGROUND: Increased thyroid stimulating hormone (TSH) serum concentration can be a marker of subclinical hypothyroidism (SCH) or transient hyperthyrotropinemia. The aim of our study was to evaluate whether high serum TSH concentrations in allergic children could represent true SCH or isolated and transient hyperthyrotropinemia. METHODS: We enrolled 620 allergic children (1.11-12.8 years) consecutively attending to our department. They were classified as atopics and non-atopics on the basis of the atopy work-up and, at baseline, they were investigated for thyroid function and low-grade inflammation state...
July 20, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28723611/parent-reported-nutritional-risk-and-laboratory-indices-of-cardiometabolic-risk-and-in-preschool-aged-children
#8
Navindra Persaud, Hedyeh Ziai, Gerald Lebovic, Jonathon L Maguire, Marina Khovratovich, Janis A Randall Simpson, Khosrow Adeli, Jill Hamilton, Brian W McCrindle, Patricia C Parkin, Catherine S Birken
BACKGROUND: Eating habits formed during childhood may contribute to the increasing prevalence of cardiometabolic disorders. Assessing nutritional risk in young children may help to prevent later cardiometabolic disease. The objective of this study was to determine whether parent-reported nutritional risk in preschool-aged children was associated with laboratory indices of cardiometabolic risk, namely leptin and insulin. METHODS: In this cross-sectional study, the relationship between nutritional risk as determined by the parent-completed NutriSTEP® questionnaire was assessed and compared to the serum leptin and insulin concentrations, hormones involved in regulation of food intake and biomarkers of adiposity and cardiometabolic risk...
July 19, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28693122/postprandial-hyperinsulinemic-hypoglycemia-in-a-child-as-a-late-complication-of-esophageal-reconstruction
#9
Rade Vukovic, Tatjana Milenkovic, Maja Djordjevic, Katarina Mitrovic, Sladjana Todorovic, Adrijan Sarajlija, Khalid Hussain
BACKGROUND: Postprandial hyperinsulinemic hypoglycemia (PHH) is an increasingly recognized complication of gastric bypass surgery in obese adults, distinct from the "dumping syndrome". CASE PRESENTATION: Upon birth, primary repair of esophageal atresia was performed, and at the age of 14 months definite esophageal reconstruction was performed. At the age of 3 years, recurrent brief episodes of symptomatic hypoglycemia started. At the age of 5.7 years the girl was admitted to our clinic and investigations indicated hyperinsulinemic hypoglycemia...
June 24, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28693121/impact-of-discontinuation-of-growth-hormone-treatment-on-lipids-and-weight-status-in-adolescents
#10
Juliane Rothermel, Nina Lass, Christina Bosse, Thomas Reinehr
BACKGROUND: While the main role of growth hormone (GH) replacement therapy in children is to promote linear growth, GH has also an effect on lipids and body composition. There is an ongoing discussion whether discontinuation of GH treatment is associated with deterioration of lipids. METHODS: We analyzed weight status [as body mass index-standard deviation score (BMI-SDS)], insulin like growth factor (IGF)-1, triglycerides, total, low-density liporptoein (LDL)- and high-density lipoprotein (HDL)-cholesterol at the end of GH treatment and in mean 6 months later in 90 adolescents (53 with GH deficiency, 16 with Turner syndrome [TS] and 21 born small-for-gestational age [SGA])...
June 24, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28693120/clinical-evaluation-and-mutational-analysis-of-galk-and-gale-genes-in-patients-with-galactosemia-in-greece-one-novel-mutation-and-two-rare-cases
#11
Kleopatra H Schulpis, Georgia Thodi, Konstantinos Iakovou, Maria Chatzidaki, Yannis Dotsikas, Elina Molou, Olga Triantafylli, Yannis L Loukas
BACKGROUND: Deficiencies of galactokinase (GALK) and UDP-epimerase (GALE) are implicated with galactose metabolic disorders. The aim of the study was the identification of mutations in GALK and GALE genes and clinical evaluation of patients. METHODS: Five patients with GALK and five with GALE deficiency were picked up via the Neonatal Screening Program. Additionally, two females, 4 years old, were referred with late diagnosed galactosemia, as rare cases. Mutational analysis was conducted via Sanger sequencing, while in silico analysis tools were utilized for the novel mutation...
June 24, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28693119/clinical-biochemical-and-genetic-features-with-nonclassical-21-hydroxylase-deficiency-and-final-height
#12
Şenay Savaş-Erdeve, Semra Çetinkaya, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Firdevs Baş, Merih Berberoğlu, Zeynep Sıklar, Özlem Korkmaz, Derya Buluş, Emine Demet Akbaş, Tülay Güran, Ece Böber, Onur Akın, Gülay Can Yılmaz, Zehra Aycan
BACKGROUND: The clinical, laboratory, genetic properties and final height of a large cohort of patients with nonclassical 21-hydroxylase deficiency (NC21OHD) in Turkey were analyzed. METHODS: This multicenter, nationwide web-based study collected data. RESULTS: The mean age was 9.79±4.35 years (229 girls, 29 boys). The most common symptoms were premature pubarche (54.6%) and hirsutism (28.6%). The peak cortisol was found below 18 μg/dL in three (15...
June 23, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28693118/high-prevalence-of-organ-specific-autoantibodies-in-indian-type-1-diabetic-patients
#13
Shivaprasad Channabasappa, Anish Kolly, Annie Pulikkal, K M Prasanna Kumar
BACKGROUND: Type 1 diabetes (T1D) is frequently associated with other autoimmune conditions such as autoimmune thyroiditis, coeliac disease (CD) and Addison's disease. There are sparse data on the prevalence of antibodies against these conditions in Indian patients with T1D. This study aims to evaluate prevalence of these T1D associated autoantibodies in Indian patients. METHODS: Two hundred and fifty-eight patients with T1D were recruited from the Bangalore Diabetes Hospital and the Vydehi Institute of Medical Sciences and Research Centre (VIMS) for the study...
June 23, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28693117/joint-association-of-screen-time-and-physical-activity-with-anthropometric-measures-in-iranian-children-and-adolescents-the-weight-disorders-survey-of-the-caspian-iv-study
#14
Shirin Djalalinia, Mostafa Qorbani, Negar Rezaei, Ali Sheidaei, Armita Mahdavi-Gorabi, Amir Kasaeian, Mohammad Esmaeil Motlagh, Hamid Asayesh, Saeid Safiri, Roya Kelishadi
BACKGROUND: This study aims to assess the joint association of screen time (ST) and physical activity (PA) with anthropometric indices among Iranian children and adolescents. METHODS: In this national study, 23,183 school students, aged 6-18 years, were studied. By using a multi-stage cluster sampling method, they were selected from rural and urban areas of 30 provinces of Iran. ST and PA were assessed by self-administered validated questionnaires. Height, weight, hip and waist circumferences (WC) were measured according to standard protocols, and body mass index (BMI) was calculated...
June 23, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28693116/long-term-follow-up-of-a-child-with-klinefelter-syndrome-and-achondroplasia-from-infancy-to-16-years
#15
Jessica D Arditi, Loretta Thomaidis, Helen Frysira, Artemis Doulgeraki, George P Chrousos, Christina Kanaka-Gantenbein
BACKGROUND: Achondroplasia (ACH), an autosomal dominant skeletal dysplasia, occurs in approximately 1:20,000 births. On the other hand, 47,XXY aneuploidy (Klinefelter syndrome [KS]) is the most common sex chromosome disorder, with a prevalence of approximately 1:600 males. To the best of our knowledge, only five cases of patients presenting both ACH and KS have been reported to date in the international literature. However, none of these cases has been longitudinally followed during the entire childhood...
June 23, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28693115/assessment-of-insulin-like-growth-factor-1-and-igf-binding-protein-3-in-healthy-indian-girls-from-delhi-and-their-correlation-with-age-pubertal-status-obesity-and-thyroid-hormonal-status
#16
Raman K Marwaha, M K Garg, Sushil Gupta, A K Khurana, Archna Narang, Manoj Shukla, Preeti Arora, Aditi Chadha, Deb Datta Nayak, R K Manchanda
BACKGROUND: Population specific data and influence of sub-clinical hypothyroidism on insulin like growth factor-1 (IGF-1) and its binding protein-3 (IGFBP-3) in Indian children is lacking. This study was undertaken to evaluate serum IGF-1 and IGFBP-3 and their correlation with age, gender, pubertal status and thyroid functions. METHODS: A total of 840 apparently healthy school girls aged 6-18 years, were recruited for the study and underwent assessment of height, weight, body mass index, pubertal status and serum T3, T4, TSH, IGF-1, IGFBP-3 and IGF-1/IGFBP-3 molar ratio...
June 23, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28693114/comparison-of-tanner-staging-of-hiv-infected-and-uninfected-girls-at-the-university-of-nigeria-teaching-hospital-ituku-ozalla-enugu-nigeria
#17
Ogochukwu N Iloh, Kenechukwu K Iloh, Agozie C Ubesie, Ifeoma J Emodi, Anthony N Ikefuna, Ngozi S Ibeziako
BACKGROUND: A number of factors influence sexual maturation in adolescents, including chronic illnesses like HIV. Marshall and Tanner devised a method of classifying the adolescent based on the level of sexual maturation into five stages. This study compared the Tanner staging of HIV-infected and uninfected girls. METHODS: This was a cross-sectional study of 100 HIV-infected girls aged 8-18 years and 100 uninfected counterparts matched for age and social class. Using standard photographs as a guide, stages of sexual maturation were determined according to the method proposed by Marshall and Tanner...
June 23, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28693124/pediatric-toxic-polycystic-thyroid
#18
Janeil M Belle, Nektarios Vasilottos, Todd D Nebesio, Benjamin C James
BACKGROUND: Polycystic thyroid disease (PCTD) is a rare condition and has been described in adults in the setting of subclinical and clinical hypothyroidism. We present the first known case of a pediatric patient with diffuse macrocystic degeneration of the thyroid. CLINICAL PRESENTATION: A 6-year-old previously healthy patient was evaluated after presenting with a 16-month history of an enlarging polycystic thyroid and hyperthyroidism. Markers of autoimmune thyroid disease including thyroid stimulating immunoglobulin (TSI), thyroid stimulating hormone (TSH) receptor antibody, thyroid peroxidase antibody and thyroglobulin antibody were negative...
June 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28599390/fructose-1-6-bisphosphatase-deficiency-caused-by-a-novel-homozygous-alu-element-insertion-in-the-fbp1-gene-and-delayed-diagnosis
#19
Somashekara Hosaagrahara Ramakrishna, Siddaramappa Jagdish Patil, Anusha Aladakatte Jagadish, Anil Kumar Sapare, Hiremath Sagar, Subramanian Kannan
Fructose-1,6-bisphosphatase (FBPase) enzyme deficiency is one of the treatable autosomal recessive inherited metabolic disorders. If diagnosed early, FBPase deficiency has a favorable prognosis. We report the clinical and biochemical findings of a 9.5-year-old female child with FBPase deficiency. FBPase deficiency is caused by a homozygous Arthrobacter luteus (Alu) insertion in the FBP1 gene, reported for the first time.
May 23, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28599389/oral-administration-of-diluted-nasal-desmopressin-in-managing-neonatal-central-diabetes-insipidus
#20
Meenal Mavinkurve, Niamh McGrath, Niall Johnston, Sinead Moloney, Nuala P Murphy, Colin P Hawkes
BACKGROUND: Neonatal central diabetes insipidus (NCDI) remains a therapeutic challenge, as extremely low doses of enteral desmopressin cannot be titrated with current preparations. The aim of this study was to describe the use of orally administered dilute desmopressin in NCDI. METHODS: Nasal desmopressin (100 μg/mL) was diluted in 0.9% saline to 10 μg/mL. Infants were treated with 1-5 μg and doses were titrated to a twice-daily regimen. The feed volume was 150 mL/kg/day and titrated according to weight gain...
May 23, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
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