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Journal of Pediatric Endocrinology & Metabolism: JPEM

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https://www.readbyqxmd.com/read/28917085/a-retrospective-review-of-initial-bisphosphonate-infusion-in-an-inpatient-vs-outpatient-setting-for-bisphosphonate-na%C3%A3-ve-patients
#1
Rose M Kreikemeier, Heather Gosnell, Lisa M Halbur, Eric T Rush
BACKGROUND: The purpose of this study was to evaluate the safety and convenience of initial bisphosphonate infusion therapy in inpatient and outpatient settings for patients with low bone mineral density. METHODS: All data were collected from retrospective chart reviews of heterogeneous groups of patients. Abnormal findings prior to the infusion and side effects during the infusion were documented. Patients were contacted following the infusion to discuss post-infusion adverse events...
September 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28917084/evaluation-of-neurodevelopment-of-children-with-congenital-hypothyroidism-by-the-denver-developmental-screening-test
#2
Ayşe Derya Buluş, Esra Tiftik
BACKGROUND: Thyroid hormones are essential for growth and brain development in childhood. Although congenital hypothyroidism (CH) is the most common reason for mental retardation, normal neurological development can be achieved through early and effective treatment. The aim of the present study was to evaluate the neurological development of CH patients aged 24-56 months. METHODS: The study included a total of 116 healthy control subjects and 112 patients aged 24-56 months who were diagnosed with CH during the neonatal period and were being followed up at the Pediatric Endocrinology Department, Keçiören Training and Research Hospital, between 2012 and 2015...
September 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28915118/delayed-diagnosis-of-proopiomelanocortin-pomc-deficiency-with-type-1-diabetes-in-a-9-year-old-girl-and-her-infant-sibling
#3
Elif Ozsu, Allison Bahm
BACKGROUND: Proopiomelanocortin (POMC) protein, encoded by the POMC gene, is the precursor of adrenocorticotropic hormone (ACTH) that is released from the anterior pituitary gland. Homozygous mutations in the POMC gene is associated with hyperphagia, severe and early-onset obesity, adrenal insufficiency, hypopigmentation of the skin and red hair. CASE PRESENTATION: A 9-year-old girl from a consanguineous family of Iraqi origin was diagnosed with type 1 diabetes...
September 15, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28915117/molecular-genetic-and-clinical-delineation-of-22-patients-with-congenital-hypogonadotropic-hypogonadism
#4
Kohei Aoyama, Haruo Mizuno, Tatsushi Tanaka, Takao Togawa, Yutaka Negishi, Kei Ohashi, Ikumi Hori, Masako Izawa, Takashi Hamajima, Shinji Saitoh
BACKGROUND: Congenital hypogonadotropic hypogonadism (CHH) is classified as Kallmann syndrome (KS) with anosmia/hyposmia or normosmic (n)CHH. Here, we investigated the genetic causes and phenotype-genotype correlations in Japanese patients with CHH. METHODS: We enrolled 22 Japanese patients with CHH from 21 families (18 patients with KS and 4 with nCHH) and analyzed 27 genes implicated in CHH by next-generation and Sanger sequencing. RESULTS: We detected 12 potentially pathogenic mutations in 11 families, with three having a mutation in ANOS1 (X-linked recessive); three and four having a mutation in FGFR1 and CHD7, respectively (autosomal dominant); and one having two TACR3 mutations (autosomal recessive)...
September 15, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28902631/rare-cases-of-galactose-metabolic-disorders-identification-of-more-than-two-mutations-per-patient
#5
LETTER
Kleopatra H Schulpis, Georgia Thodi, Maria Chatzidaki, Konstantinos Iakovou, Elina Molou, Yannis Dotsikas, Yannis L Loukas
No abstract text is available yet for this article.
September 13, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28902630/pseudohypoparathyroidism-type-1b-associated-with-assisted-reproductive-technology
#6
Monica Fernandez, Maria Jose Zambrano, Joel Riquelme, Claudia Castiglioni, Marie-Laure Kottler, Harald Jüppner, Veronica Mericq
Evidence suggests an increased incidence of imprinting disorders in children conceived by assisted reproductive technologies (ART). Maternal loss-of-methylation at GNAS exon A/B, observed in pseudohypoparathyroidism type 1b (PHP1B), leads to decreased expression of the stimulatory Gsα. We present a patient conceived by ART, who presented at age 4 years with delayed neurocognitive development and persistently increased creatine kinase (CK). At 6 years an elevated PTH was detected with normal calcium and a low 25(OH) vitamin D level (25OHD)...
September 13, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28902629/individualised-growth-response-optimisation-igro-tool-an-accessible-and-easy-to-use-growth-prediction-system-to-enable-treatment-optimisation-for-children-treated-with-growth-hormone
#7
REVIEW
Jane Loftus, Anders Lindberg, Ferah Aydin, Roy Gomez, Mohamad Maghnie, Raoul Rooman, Heinz Steinkamp, Helmuth Doerr, Michael Ranke, Cecilia Camacho-Hubner
BACKGROUND: Growth prediction models (GPMs) exist to support clinical management of children treated with growth hormone (GH) for growth hormone deficiency (GHD), Turner syndrome (TS) and for short children born small for gestational age (SGA). Currently, no prediction system has been widely adopted. CONTENT: The objective was to develop a stand-alone web-based system to enable the widespread use of an 'individualised growth response optimisation' (iGRO) tool across European endocrinology clinics...
September 13, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28902628/physical-activity-and-bone-mineral-density-at-the-femoral-neck-subregions-in-adolescents-with-down-syndrome
#8
Ángel Matute-Llorente, Alejandro González-Agüero, Germán Vicente-Rodríguez, Luís B Sardinha, Fátima Baptista, José A Casajús
BACKGROUND: Low bone mineral density (BMD) has been frequently described in subjects with Down syndrome (DS). Reduced physical activity (PA) levels may contribute to low BMD in this population. The objective of the study was to investigate whether PA levels were related to the femoral neck bone mass distribution in a sample of 14 males and 12 females with DS aged 12-18 years. METHODS: BMD was evaluated by dual energy X-ray absorptiometry (DXA) at the integral, superolateral and inferomedial femoral neck regions and PA levels were assessed by accelerometry...
September 13, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28902627/serum-%C3%AE-klotho-levels-are-not-informative-for-the-evaluation-of-growth-hormone-secretion-in-short-children
#9
Cristina Meazza, Heba H Elsedfy, Randa I Khalaf, Fiorenzo Lupi, Sara Pagani, Mohamed El Kholy, Carmine Tinelli, Giorgio Radetti, Mauro Bozzola
BACKGROUND: α-Klotho is a transmembrane protein that can be cleaved and act as a circulating hormone (s-klotho). s-Klotho serum levels seem to reflect growth hormone (GH) secretory status. We investigated the role of s-klotho as a reliable marker of GH secretion in short children and the factors influencing its secretion. METHODS: We enrolled 40 short Egyptian children (20 GH deficiency [GHD] and 20 idiopathic short stature [ISS]). They underwent a pegvisomant-primed insulin tolerance test (ITT) and were accordingly reclassified as 16 GHD and 24 ISS...
September 13, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28902626/pediatric-differentiated-thyroid-carcinoma-trends-in-practice-and-outcomes-over-40-years-at-a-single-tertiary-care-institution
#10
Courtney Olmsted, Rajalakshmi Arunachalam, Xiang Gao, Liuska Pesce, Geeta Lal
BACKGROUND: This study aims to analyze changes in characteristics, practice and outcomes of pediatric differentiated thyroid cancer (DTC) at our tertiary care institution. METHODS: Patients <21 years of age diagnosed between 1973 and 2013 were identified. Clinicopathological data, treatment and outcomes were obtained by a retrospective review. RESULTS: Thirteen males and 68 females were divided into Group A (n=35, diagnosed before July 1993) and Group B (n=46, diagnosed after July 1993)...
September 13, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28888091/body-weight-misperception-and-health-related-factors-among-iranian-children-and-adolescents-the-caspian-v-study
#11
Pooneh Angoorani, Ramin Heshmat, Hanieh-Sadat Ejtahed, Mostafa Qorbani, Mohammad Esmaeil Motlagh, Hasan Ziaodini, Majzoubeh Taheri, Gita Shafiee, Zeinab Ahadi, Tahereh Aminaee, Roya Kelishadi
BACKGROUND: Along with increased prevalence of obesity, body weight misperception has also increased among adolescents. This study aims to evaluate the proportion of weight misperception among Iranian children and adolescents and its association with some health-related factors. METHODS: Data were collected from 14,440 Iranian students, aged 7-18 years, who participated in the national school-based surveillance program (CASPIAN-V). The students' anthropometric indices and blood pressure were measured using standardized methods, and valid questionnaires were used to assess their weight perception, eating patterns, physical activity and sedentary behaviors...
September 9, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28888090/type-3-renal-tubular-acidosis-associated-with-growth-hormone-deficiency
#12
Yin Ping Liew, Timothy A Rogers, Jane L Garb, Holley F Allen, Edward O Reiter, Thomas J Campfield, Vikas R Dharnidharka, Gregory L Braden
BACKGROUND: We identified two boys with type 3 renal tubular acidosis (RTA) and growth hormone deficiency and we sought to differentiate them from children with classic type 1 distal RTA. METHODS: We reviewed all children <6 years of age with RTA referred over a 13-year period and compared the growth response to alkali therapy in these two boys and in 28 children with only type 1 distal RTA. RESULTS: All children with type 1 RTA reached the 5th percentile or higher on CDC growth charts within 2 years of alkali therapy...
September 9, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28862987/mody-in-ukraine-genes-clinical-phenotypes-and-treatment
#13
Evgenia Globa, Nataliya Zelinska, Lenka Elblova, Petra Dusatkova, Ondrej Cinek, Jan Lebl, Kevin Colclough, Sian Ellard, Stepanka Pruhova
BACKGROUND: Maturity-onset diabetes of the young (MODY) has not been previously studied in Ukraine. We investigated the genetic etiology in a selected cohort of patients with diabetes diagnosed before 18 years of age, and in their family members. METHODS: Genetic testing of the most prevalent MODY genes (GCK, HNF1A, HNF4A, HNF1B and INS) was undertaken for 36 families (39 affected individuals) by Sanger or targeted next generation sequencing. RESULTS: A genetic diagnosis of MODY was made in 15/39 affected individuals from 12/36 families (33%)...
September 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28841575/relation-of-insulin-resistance-to-neurocognitive-function-and-electroencephalography-in-obese-children
#14
Onur Akın, İbrahim Eker, Mutluay Arslan, Süleyman Tolga Yavuz, Sevil Akman, Mehmet Emre Taşçılar, Bülent Ünay
BACKGROUND: Childhood obesity may lead to neuronal impairment in both the peripheral and the central nervous system. This study aimed to investigate the impact of obesity and insulin resistance (IR) on the central nervous system and neurocognitive functions in children. METHODS: Seventy-three obese children (38 male and 35 female) and 42 healthy children (21 male and 21 female) were recruited. Standard biochemical indices and IR were evaluated. The Wechsler Intelligence Scale for Children-Revised (WISC-R) and electroencephalography (EEG) were administered to all participants...
August 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28820737/when-one-disease-is-not-enough-succinyl-coa-3-oxoacid-coenzyme-a-transferase-scot-deficiency-due-to-a-novel-mutation-in-oxct1-in-an-infant-with-known-phenylketonuria
#15
Jan-Niclas Schwade, Matthias Endmann, Thomas Hofmann, Stephan Rust, Jörn Oliver Sass, Frank Rutsch
A 9-month-old Turkish girl was admitted several times within 3 months to the hospital in reduced general condition and with extreme tachypnea. The patient had been diagnosed with phenylketonuria (PKU) in newborn screening and has been treated with a low phenylalanine diet and amino acid supplements. Each time an unexplained pronounced metabolic acidosis was noted, and the child was treated with sodium-bicarbonate and glucose-electrolyte infusions. The acidosis with only slightly abnormal glucose, normal lactate levels and pronounced ketonuria suggested a defect in ketone body utilization...
August 18, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28820736/long-qt-syndrome-diagnosed-in-two-sisters-with-propionic-acidemia-a-case-report
#16
Ensar Duras, Ahmet İrdem, Ozan Özkaya
Propionic acidemia (PA) is a rare autosomal recessive metabolic disorder caused by deficiency of the mitochondrial enzyme propionyl-CoA carboxylase (PCC). This disorder mostly progresses with episodes of metabolic acidosis. Cardiomyopathy is among the cardiac complications known to occur during metabolic decompensation episodes. However, several recent papers emphasized the association of PA and long QT syndrome (LQTS) which may lead to extremely serious and fatal consequences. In this report, we describe two sisters with PA who have prolonged QT duration that were incidentally detected in an outpatient setting...
August 18, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28809753/an-occult-ectopic-parathyroid-adenoma-in-a-pediatric-patient-a-case-report-and-management-algorithm
#17
Brent D Bauman, Maria Evasovich, Amanda Louiselle, Eugene Zheng, Kevin Goodwin, Miroslav Sekulic, Faqian Li, Raphael Andrade, Bradley J Segura
BACKGROUND: Hyperparathyroidism (HPT) is a rare disease in the pediatric population, and optimal management may be unclear if it is due to an occult parathyroid adenoma. We present a case report of a pediatric patient with an occult, ectopic, supernumerary, parathyroid adenoma. CASE PRESENTATION: A 13-year-old female who initially presented with anxiety was diagnosed with HPT. Preoperative imaging and bilateral neck exploration with four-gland biopsy were negative for any parathyroid adenoma...
August 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28809752/association-of-obesity-and-health-related-quality-of-life-in-iranian-children-and-adolescents-the-weight-disorders-survey-of-the-caspian-iv-study
#18
Silva Hovsepian, Mostafa Qorbani, Mohammad Esmaeil Motlagh, Aryan Madady, Morteza Mansourian, Armita Mahdavi Gorabi, Roya Kelishadi
BACKGROUND: Considering the role of different ethnical, cultural and geographical factors in health related quality of life (HRQOL) as well as the perception of different populations regarding various weight disorders, we aimed to evaluate the association between body mass index (BMI) and HRQOL in Iranian children and adolescents. METHODS: This cross-sectional study was part of the Weight Disorders Survey of the CASPIAN-IV study. During this study, students aged 6-18 years from urban and rural areas of 30 provinces of Iran were selected...
August 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28809751/influence-of-topical-iodine-containing-antiseptics-used-during-delivery-on-recall-rate-of-congenital-hypothyroidism-screening-program
#19
Majid Valizadeh, Farzaneh Moezzi, Zohreh Khavassi, Mohammad Movahedinia, Seideh Mazloomzadeh, Ladan Mehran
BACKGROUND: The proportion of newborns recalled during neonatal screening programs for congenital hypothyroidism (CH) varies substantially by country and may be higher in settings where povodine iodine (PVP-I) is used during delivery. We assessed this hypothesis by substituting PVP-I for chlorhexidine (CHL) and evaluated the reduction in the recall rate of the Irainian newborn screening program. METHODS: This study investigated 2282 neonates of mothers admitted to a local hospital for delivery between December 2012 and October 2013...
August 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28792911/standard-body-mass-index-reference-data-of-prepubescent-diabetic-egyptian-children
#20
Nayera E Hassan, Sahar A El-Masry, Aya Khalil
BACKGROUND: Data on the growth of diabetic children is conflicting. The aim of this study was to create and validate acceptable body mass index (BMI)-standardized percentiles and curves applied to Egyptian prepubescent diabetic children. METHODS: The cross-sectional study comprised 822 prepubescent children with type 1 diabetes mellitus (T1DM), whose ages ranged from 3 years to 10 years±6 months. An anthropometric assessment for each child was performed: body weight, height and BMI were calculated (weight [kg]/height [m2]), and glycated hemoglobin levels were determined...
August 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
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