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Journal of Pediatric Endocrinology & Metabolism: JPEM

Judith Brody, Orit Pinhas-Hamiel, Zohar Landau, Adi Adar, Tzvy Bistritzer, Marianna Rachmiel
BACKGROUND: The prevalence of both vitamin D (VitD) deficiency and type 1 diabetes mellitus (T1DM) has increased worldwide over the last few decades. The objectives of this study were: (1) to evaluate the prevalence of VitD deficiency and insufficiency among Israeli youth with T1DM and (2) to assess the association between VitD status, seasonality and T1D glycemic control characteristics. METHODS: This was a multi-centered, cross-sectional study. VitD levels were routinely tested during the years 2008-2011 in T1DM patients aged up to 21 years...
October 19, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Nurin Jivani, Carmen Torrado-Jule, Sarah Vaiselbuh, Eleny Romanos-Sirakis
Shwachman-Diamond syndrome (SDS) is an autosomal recessive bone marrow failure syndrome typically characterized by neutropenia and pancreatic dysfunction, although phenotypic presentations vary, and the endocrine phenotype is not well-described. We report a unique case of a patient with SDS who initially presented with hypoglycemia and micropenis in the newborn period and was diagnosed with congenital hypopituitarism. We are not aware of any other cases of SDS documented with this combination of complex endocrinopathies...
October 18, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Shahrzad Jafari-Adli, Mostafa Qorbani, Ramin Heshmat, Shirin Hasani Ranjbar, Ehsaneh Taheri, Mohammad Esmaeil Motlagh, Mehdi Noorozi, Omid Safari, Gita Shafiee, Fatemeh Rezaei, Saeid Safiri, Roya Kelishadi
BACKGROUND: Data on stature in Iranian children and adolescents at national level are limited. The purpose of this study was to investigate the association of short stature with life satisfaction (LS) and self-rated health (SRH) in children and adolescents. METHODS: Data were obtained from a nationwide survey entitled childhood and adolescence surveillance and prevention of adult non-communicable disease (CASPIAN IV). Participants were 14,880 children and adolescents, aged 6-18 years, who were selected using multistage, cluster sampling method from rural and urban areas of 30 provinces of Iran...
October 18, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Thomas M Kapellen, Rebecca Reimann, Wieland Kiess, Karel Kostev
BACKGROUND: The aim of this study was to analyze the prevalence of attention deficit hyperactivity disorder (ADHD) in children and adolescents with type 1 diabetes mellitus (T1DM) in Germany. METHODS: Two different representative German databases - IMS®-Disease Analyzer, a database that includes diagnoses as well as other information, and IMS®-LRx, a database that documents prescriptions - were used to conduct a retrospective analysis. We searched the LRx database for patients who received both insulin and ADHD-specific medication...
October 18, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Yasmeen Ganie, Colleen Aldous, Yusentha Balakrishna, Rinus Wiersma
BACKGROUND: The objective of the study was to describe the prevalence, clinical characteristics and aetiological diagnosis in children with disorders of sex development (DSDs) presenting to a tertiary referral centre. METHODS: This is a retrospective review of all cases of DSD referred to the Paediatric Endocrine Unit in Inkosi Albert Luthuli Central Hospital (IALCH) from January 1995 to December 2014. RESULTS: A total of 416 children (15...
October 18, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Ummugulsum Can, Muammer Buyukinan, Asuman Guzelant, Ayse Ugur, Adnan Karaibrahimoglu, Sukrıye Yabancıun
BACKGROUND: Metabolic syndrome (MetS) is a chronic and multifactorial syndrome characterized by a low-grade chronic inflammation, and a major risk factor for type 2 diabetes mellitus (T2DM) and cardiovascular disease (CVD). In our study, we aimed to investigate the serum levels of high sensitive C-reactive protein (hs-CRP), haptoglobin (Hp), α2-macroglobulin (α2-MG), platelet factor-4 (PF-4), fetuin-A, serum amyloid P (SAP) and α1-acid glycoprotein (AGP) in an adolescent population with MetS...
October 18, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Jae-Min Park, Jee-Yon Lee, Jae June Dong, Duk-Chul Lee, Yong-Jae Lee
BACKGROUND: Studies have suggested the triglyceride to high-density lipoprotein cholesterol ratio (TG/HDL-C) as a surrogate marker of insulin resistance. However, few studies have examined the association between TG/HDL-C and insulin resistance in the general adolescent population. This study aimed to examine the association between TG/HDL-C and insulin resistance in a nationally representative sample of Korean adolescents. METHODS: A total of 2649 participants aged 12-18 years were selected from the 2007 to 2010 Korean National Health and Nutrition Examination Survey (KNHANES)...
October 14, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Somchit Jaruratanasirikul, Sudarat Thammaratchuchai, Maneerat Puwanant, Ladda Mo-Suwan, Hutcha Sriplung
BACKGROUND: Childhood obesity is associated with abnormal glucose metabolism and type 2 diabetes mellitus (T2DM). This study evaluated the prevalence of abnormal glucose metabolism in asymptomatic obese children and adolescents, and determined the percentage of T2DM development after 3-6 years of follow-up. METHODS: During 2007-2013, 177 obese children and adolescents who had normal fasting plasma glucose (FPG<100 mg/dL) were given an oral glucose tolerance test (OGTT)...
October 14, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Peter A Lee, Margaret Luce, Peter Bacher
BACKGROUND: Peak gonadotropin-releasing hormone or agonist (GnRHa) stimulated luteinizing hormone (LH) testing with leuprolide acetate (LA) is commonly used to document suppression during therapy for central precocious puberty (CPP). The objective of the study was to investigate suitability of using basal LH levels to monitor GnRHa treatment and to determine optimal transition from 1-month to 3-month LA formulations via a post hoc analysis of a randomized, open-label, 6-month study. METHODS: A total of 42 children with CPP, pretreated with 7...
October 14, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Jose Bernardo Quintos, Juanita K Hodax, Bryn A Gonzales-Ellis, Chanika Phornphutkul, Michael P Wajnrajch, Charlotte M Boney
Kearns-Sayre syndrome (KSS) is characterized by external ophthalmoplegia, retinal pigmentation and cardiac conduction defects due to mitochondrial DNA (mtDNA) deletions. Short stature and growth hormone (GH) deficiency have been reported in KSS, but data on GH treatment is limited. We describe the clinical presentation, phenotype evolution, and response to GH in a patient with KSS and report data on eight additional KSS patients from the KIGS database. Our patient with KSS and GH deficiency achieved a final adult height at -0...
October 8, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
María Beatriz Araujo, María Sol Pacce
BACKGROUND: Current pediatric guidelines for heterozygous familial hypercholesterolemia (HeFH) propose pharmacotherapy (PT) with statins from age 8 to 10 years; however, schemes with absorption inhibitors combined with statins, could be started earlier. The aim of the study was to show the 10-year results of a combined treatment protocol. METHODS: Prospective, descriptive and analytical study. Pediatric patients (n=70; mean age at PT initiation 9.3 years [range, 2-17...
October 8, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Violeta Anastasovska, Mirjana Kocova
BACKGROUND: Congenital hypothyroidism (CH) is a common and preventable cause of intellectual disability for which early diagnosis is difficult without newborn screening. Genetic and environmental factors, race, ethnicity, sex, and pregnancy outcomes were noted as risk factors. In the study we aimed to determine the incidence of CH among different ethnic groups in the capital of Macedoina - a multiethnic city. METHODS: A 14-year retrospective cohort analysis was performed on 121,507 newborns in the capital of Macedonia, Skopje, screened for whole-blood thyroid-stimulating hormone (TSH), in dry blood spots collected 48-72 h after birth, during the period 2002-2015...
September 22, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Leena Nahata, Sonja I Ziniel, Katharine C Garvey, Richard N Yu, Laurie E Cohen
BACKGROUND: Infertility and sexual dysfunction result from many different pediatric conditions and treatments and can profoundly impact quality of life. The American Academy of Pediatrics (AAP) has recommended consulting "fertility specialists" for counseling, but it remains unclear who these specialists are. Our objective was to assess whether pediatric subspecialists who manage hypogonadism and/or genitourinary conditions feel adequately trained to provide fertility and sexual function counseling...
September 22, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Mohd Ashraf Ganie, Nishant Raizada, Himika Chawla, Arun Kumar Singh, Sandeep Aggarwala, Chandra Sekhar Bal
Primary hyperparathyroidism, typically a disease of the middle aged and the old, is less commonly seen in children. In children the disease has a bimodal age distribution with calcium sensing receptor mutation presenting in infancy as hypercalcemic crises and parathyroid adenoma or hyperplasia presenting later in childhood with bone disease. The childhood parathyroid adenomas are often familial with multiglandular disease and manifest with severe bone disease unlike adults. We report a series of four male patients with juvenile primary hyperparathyroidism, three of whom presented with bone disease masquerading as rickets-osteomalacia...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Marion Kessler, Michael Tenner, Michael Frey, Richard Noto
BACKGROUND: The objective of the study was to describe the pituitary volume (PV) in pediatric patients with isolated growth hormone deficiency (IGHD), idiopathic short stature (ISS) and normal controls. METHODS: Sixty-nine patients (57 male, 12 female), with a mean age of 11.9 (±2.0), were determined to have IGHD. ISS was identified in 29 patients (20 male, 9 female), with a mean age of 12.7 (±3.7). Sixty-six controls (28 female, 38 male), mean age 9.8 (±4.7) were also included...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Andreas Krebs, Juergen Doerfer, Alexandra Krause, Juergen Grulich-Henn, Martin Holder, Wolfgang Hecker, Kai Lichte, Arno Schmidt-Trucksaess, Karl Winkler, Karl Otfried Schwab
BACKGROUND: The objective of the study was to assess the effect of atorvastatin on inflammation markers and low-density lipoprotein (LDL) subfractions. METHODS: In a prospective, randomized, double-blind pilot study involving 28 adolescents with type 1 diabetes (T1D), lipoprotein-associated phospholipase A2 (Lp-PLA2) activity, high-sensitivity C-reactive protein (hsCRP), and subfractions of LDL were measured at baseline, after 1 year and 2 years of treatment with atorvastatin (10 mg/day) vs...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Huseyin Kurku, Ali Gencer, Ozgur Pirgon, Muammer Buyukinan, Nagehan Aslan
BACKGROUND: Iodine is a part of thyroid hormones and has been reported to act directly as an antioxidant or induce indirectly antioxidant enzymes. This study aimed to assess the urinary iodine concentration and its relationship between the antioxidant and oxidative stress capacity in healthy school-aged children. METHODS: In total, 196 students from five primary schools, randomly selected between 9 and 12 years (mean age: 10.2±1.2 years), were enrolled in the study...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Maria Francisca Coutinho, Marisa Encarnação, Francisco Laranjeira, Lúcia Lacerda, Maria João Prata, Sandra Alves
While being well known that the diagnosis of many genetic disorders relies on a combination of clinical suspicion and confirmatory genetic testing, not rarely, however, genetic testing needs much perseverance and cunning strategies to identify the causative mutation(s). Here we present a case of a thorny molecular diagnosis of mucolipidosis type III alpha/beta, which is an autosomal recessive lysosomal storage disorder, caused by a defect in the GNPTAB gene that codes for the α/β-subunits of the GlcNAc-1-phosphotransferase...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Justyna Szczapa-Jagustyn, Anna Gotz-Więckowska, Jarosław Kocięcki
BACKGROUND: Risk of developing thyroid-associated ophthalmopathy (TAO) in children and adolescents is similar or may be even slightly higher than in adults. The aim of this article is to review and summarize current knowledge regarding diagnostic and therapeutic measures in pediatric TAO. CONTENT: MEDLINE and EMBASE papers were searched using the terms 'pediatric Graves' ophthalmopathy' 'pediatric Graves' orbitopathy', 'thyroid-associated ophthalmopathy in childhood and adolescence' from the year 1970 to December 2015...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Katharina Warncke, Franziska Falco, Wolfgang Rabl, Ilse Engelsberger, Julia Saier, David Flores-Rodriguez, Stefan Burdach, Walter Bonfig
BACKGROUND: Congenital hyperinsulinism (CHI) is a rare disease with an estimated incidence of 1:40,000 live births. Here, we characterize 11 patients treated at Munich Children's Hospital Schwabing. METHODS: We analyzed data on birth, treatment and laboratory results including genetic testing and evaluated the long-term course with a follow-up visit. RESULTS: All patients had severe, diazoxide-(DZX)-resistant hypoglycemia, beginning immediately after birth...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
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