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Pediatric endocrinology

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https://www.readbyqxmd.com/read/29429350/-steroid-21-hydroxylase-deficiency-the-most-frequent-cause-of-congenital-adrenal-hyperplasia
#1
Márton Doleschall, Dóra Török, Katalin Mészáros, Andrea Luczay, Zita Halász, Krisztina Németh, Nikolette Szücs, Róbert Kiss, Judit Tőke, János Sólyom, György Fekete, Attila Patócs, Péter Igaz, Miklós Tóth
Congenital adrenal hyperplasia is a group of genetic diseases due to the disablement of 7 genes; one of them is steroid 21-hydroxylase deficiency. The genes of congenital adrenal hyperplasia encode enzymes taking part in the steroidogenesis of adrenal gland. Steroid 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations of the steroid 21-hydroxylase gene. The mutations of steroid 21-hydroxylase gene cause 95% of the congenital adrenal hyperplasia cases. Although the non-classic steroid 21-hydroxylase deficiency with mild symptoms is seldom diagnosed, the classic steroid 21-hydroxylase deficiency may lead to life-threatening salt-wasting and adrenal crises due to the insufficient aldosterone and cortisol serum levels...
February 2018: Orvosi Hetilap
https://www.readbyqxmd.com/read/29408736/diagnostic-evaluation-comorbidity-screening-and-treatment-of-polycystic-ovary-syndrome-in-adolescents-in-three-specialty-clinics
#2
Meghna R Sebastian, Constance M Wiemann, Fida Bacha, Sharonda J Alston-Taylor
STUDY OBJECTIVE: A polycystic ovary syndrome (PCOS) diagnosis in adolescence can have significant long-term health implications. The criteria for its diagnosis in adolescents have been subject to much debate. This study aimed to characterize the variability in diagnosis and management among different pediatric specialties. DESIGN, SETTINGS, PARTICIPANTS, AND INTERVENTIONS: This is a retrospective review of electronic medical records of females (11 - 21 years old) who presented to three specialties (adolescent medicine (AM), pediatric endocrinology (ENDO), and gynecology (GYN)), with a post-visit diagnosis of PCOS, menstrual disorders, or hirsutism, at a large tertiary care center, from November 1, 2011- October 31, 2012...
January 31, 2018: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/29405766/urinary-bisphenol-a-levels-in-turkish-girls-with-premature-thelarche
#3
E Durmaz, A Asci, P Erkekoglu, A Balcı, I Bircan, B Koçer-Gumusel
There is a growing concern over the timing of pubertal breast development and its possible association with exposure to endocrine disrupting chemicals (EDCs), such as bisphenol A (BPA). BPA is abundantly used to harden plastics. The aim of this study was to investigate the relation between premature thelarche (PT) and BPA by comparing the urinary BPA levels of PT girls with those of healthy subjects. Twenty-five newly diagnosed nonobese PT subjects (aged 4-8 years) who were admitted to the Pediatric Endocrinology Department at Akdeniz University were recruited...
January 1, 2018: Human & Experimental Toxicology
https://www.readbyqxmd.com/read/29380252/newborn-screening-guidelines-for-congenital-hypothyroidism-in-india-recommendations-of-the-indian-society-for-pediatric-and-adolescent-endocrinology-ispae-part-i-screening-and-confirmation-of-diagnosis
#4
M P Desai, R Sharma, I Riaz, S Sudhanshu, R Parikh, V Bhatia
The Indian Society for Pediatric and Adolescent Endocrinology has formulated locally relevant Clinical Practice Guidelines for newborn screening, diagnosis and management of primary congenital hypothyroidism (CH). RECOMMENDATIONS: Screening should be done for every newborn using cord blood, or postnatal blood, ideally at 48 to 72 h of age. On this screen sample, neonates with TSH > 20 mIU/L serum units (or >34 mIU/L for samples taken between 24 to 48 h of age) should be recalled for confirmation...
January 30, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29379569/brain-atrophy-and-hypomyelination-associated-with-iatrogenic-cushing-syndrome-in-an-infant
#5
Sumeyra Dogan, Mehmet S Dogan, Filiz Tutunculer, Ozge Yapiciugurlar, Hakan Genchellac
Prolonged use of topical corticosteroids, particularly in infants, albeit rare, may lead to Cushing syndrome. Central nervous system abnormalities including brain atrophy and delayed myelination on cranial magnetic resonance imaging has been reported in patients with corticosteroid treatment. We herein report a 5-month-old female infant referred to Department of Pediatric Endocrinology, Edirne, Turkey with brain atrophy and myelination delay that might be due to iatrogenic Cushing syndrome caused by topical corticosteroid use...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29379560/evaluating-of-psychiatric-behavior-in-obese-children-and-adolescents
#6
Fatemeh Moharei, Samaneh Norooziasl, Fatemeh Behdani, Nosrat Ghaemi
Objective: Obesity is a medical condition that may have a harmful effect on health, leading to increased illness and reduced life expectancy. This studyaimed to evaluate the relationship of psychiatry disorders in overweight and obese children and adolescents. Materials & Methods: In this case-control study, 160 children and adolescent were enrolled refereed to Clinic of Pediatric Endocrinology, Imam Reza hospital, Mashhad, Iran in 2009-2011. The sampling method of this study was non-probability and biased...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29373318/clinical-follow-up-data-and-the-rate-of-development-of-precocious-and-rapidly-progressive-puberty-in-patients-with-premature-thelarche
#7
Dilek Çiçek, Senay Savas-Erdeve, Semra Cetinkaya, Zehra Aycan
BACKGROUND: We aimed to evaluate the clinical follow-up data of patients with premature thelarche and determine the rate of development of precocious and early puberty in these patients. METHODS: The charts of 158 girls with premature thelarche who were followed-up in our pediatric endocrinology polyclinic were reviewed. The patients were divided into three groups according to the age at onset: group 1 (0-1 month) (n=12), group 2 (1-24 months) (n=40) and group 3 (2-8 years) (n=106)...
January 26, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29349100/vitamin-d-deficiency-associated-with-markers-of-cardiovascular-disease-in-children-with-obesity
#8
Marisa Censani, Hoda T Hammad, Paul J Christos, Tiffany Schumaker
Adult studies have reported associations of low 25-hydroxyvitamin D (25OHD) with dyslipidemia and cardiovascular disease; however, there are scarce pediatric data regarding relationships between vitamin D status and specific lipid markers affecting cardiovascular risk. In this cross-sectional study of children evaluated at university-based pediatric endocrinology clinics, 178 patients meeting criteria for overweight or obesity had 25OHD levels assessed over a 2-year period; 60 of 178 had non-HDL (high-density lipoprotein) cholesterol and fasting lipid parameters performed...
2018: Global Pediatric Health
https://www.readbyqxmd.com/read/29343557/dicer1-and-associated-conditions-%C3%A2-identification-of-at-risk-individuals-and-recommended-surveillance-strategies
#9
Kris Ann P Schultz, Gretchen M Williams, Junne Kamihara, Douglas R Stewart, Anne K Harris, Andrew J Bauer, Joyce Turner, Rachana Shah, Katherine Schneider, Kami Wolfe Schneider, Ann Garrity Carr, Laura A Harney, Shari Baldinger, A Lindsay Frazier, Daniel Orbach, Dominik T Schneider, David Malkin, Louis P Dehner, Yoav H Messinger, Ashley Hill
Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline DICER1 variants may also develop lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma and brain tumors including pineoblastoma and pituitary blastoma...
January 17, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29338844/sfe-sfedp-adrenal-insufficiency-french-consensus-introduction-and-handbook
#10
Yves Reznik, Pascal Barat, Jérôme Bertherat, Claire Bouvattier, Frédéric Castinetti, Olivier Chabre, Philippe Chanson, Christine Cortet, Brigitte Delemer, Bernard Goichot, Damien Gruson, Laurence Guignat, Emmanuelle Proust-Lemoine, Marie-Laure Raffin Sanson, Rachel Reynaud, Dinane Samara Boustani, Dominique Simon, Antoine Tabarin, Delphine Zenaty
The French endocrinology society (SFE) and the French pediatric endocrinology society (DFSDP) have drawn up recommendations for the management of primary and secondary adrenal insufficiency in the adult and child, based on an analysis of the literature by 19 experts in 6 work-groups. A diagnosis of adrenal insufficiency should be suspected in the presence of a number of non-specific symptoms except hyperpigmentation which is observed in primary adrenal insufficiency. Diagnosis rely on plasma cortisol and ACTH measurement at 8am and/or the cortisol increase after synacthen administration...
January 12, 2018: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29330018/testicular-adrenal-rest-tumor-screening-and-fertility-counseling-among-males-with-congenital-adrenal-hyperplasia
#11
Monika Chaudhari, Emilie K Johnson, Daniel DaJusta, Leena Nahata
BACKGROUND: Reduced fertility is a common potential problem among males with congenital adrenal hyperplasia (CAH), with nearly half experiencing impaired sperm production. The major cause of oligo/azoospermia in CAH is testicular adrenal rest tumors (TARTs). Studies indicate that ultrasound screening for TARTs should begin during childhood, yet it remains unclear whether boys with CAH are routinely screened for TARTs and/or counseled about infertility risk and potential interventions such as fertility testing and/or preservation...
December 21, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29325833/treatment-of-graves-disease-in-children-the-portuguese-experience
#12
Olinda Marques, Ana Antunes, Maria João Oliveira
INTRODUCTION: Graves' disease (GD) is an autoimmune thyroid disease, common in adults but rare in children. The best therapeutic approach remains controversial. OBJECTIVES: To ascertain the current treatment of pediatric GD in Portugal and to assess the clinical and biochemical factors that determine definitive/long-term remission after treatment with antithyroid drugs (ATDs). PATIENTS AND METHODS: A retrospective analysis of data about pediatric GD treatment collected from a nationwide survey conducted by the Portuguese Society of Pediatric Endocrinology and Diabetology from May to August 2013...
January 8, 2018: Endocrinología, Diabetes y Nutrición
https://www.readbyqxmd.com/read/29323689/pediatric-endocrinology
#13
EDITORIAL
Amit Lahoti, Deepak Kamat
No abstract text is available yet for this article.
January 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29323687/pediatric-endocrinology-lead-toxicity-in-sickle-cell-disease-and-hiv-pre-exposure-prophylaxis
#14
EDITORIAL
Joseph R Hageman
No abstract text is available yet for this article.
January 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29249003/mitochondrial-disease-in-children-the%C3%A2-nephrologist-s-perspective
#15
Paula Pérez-Albert, Carmen de Lucas Collantes, Miguel Ángel Fernández-García, Teresa de Rojas, Cristina Aparicio López, Luis Gutiérrez-Solana
Mitochondrial diseases (MD) are a heterogeneous group of clinical syndromes characterized by the involvement of different organ systems. They constitute the most prevalent hereditary metabolic disease group. OBJECTIVE: To review the importance of the kidney in MD from the nephrologist's perspective within the setting of a pediatric tertiary reference center. STUDY DESIGN: Retrospective study of children (<18 years) with MD followed between 2000 and 2016 at a tertiary Spanish center...
December 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29230595/an-optimized-technique-of-endoscopic-third-ventriculocisternostomy-etv-for-children-with-occlusive-hydrocephalus
#16
Albert Akramovich Sufianov, Ekkehard M Kasper, Rinat Albertovich Sufianov
In this article, we present an optimized minimally invasive technique of ETV for children with occlusive hydrocephalus. The study comprises of 64 consecutive pediatric cases (34 boys and 30 girls aged from 1 month to 5 years) of occlusive hydrocephalus from various etiologies, which were treated with a modified technique of ETV. Mean clinical follow-up period after ETV was 24.2 ± 3.8 months. Application of the new technique made it possible to significantly reduce the length of the soft tissue incision for access, and the use of upgraded instruments allowed to perform a twist drill hole in the skull to less than half a usual size...
December 11, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/29229501/proceedings-of-the-2017-santa-fe-bone-symposium-insights-and-emerging-concepts-in-the-management-of-osteoporosis
#17
REVIEW
E Michael Lewiecki, John P Bilezikian, John J Carey, Richard M Dell, Catherine M Gordon, Steven T Harris, Michael R McClung, Paul D Miller, Michael Rosenblatt
The 18th Annual Santa Fe Bone Symposium was held on August 4-5, 2017, in Santa Fe, New Mexico, USA. The symposium convenes health-care providers and clinical researchers to present and discuss clinical applications of recent advances in research of skeletal diseases. The program includes lectures, oral presentations by endocrinology fellows, case-based panel discussions, and breakout sessions on topics of interest, with emphasis on participation and interaction of all participants. Topics included the evaluation and treatment of adult survivors with pediatric bone diseases, risk assessment and management of atypical femur fractures, nonpharmacologic strategies in the care of osteoporosis, and skeletal effects of parathyroid hormone with opportunities for therapeutic intervention...
November 20, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/29207322/identification-of-a-vte-rich-population-in-pediatrics-critically-ill-children-with-central-venous-catheters
#18
Minh Tran, Steven L Shein, Xinge Ji, Sanjay P Ahuja
BACKGROUND: The incidence of venous thromboembolism (VTE) is rising among inpatients in US hospitals, especially among kids with central venous catheters (CVCs) in the pediatric intensive care unit (PICU). OBJECTIVES: To identify a sub-group of "VTE-rich" population among PICU children, and to assess the effect of VTE on morbidity and mortality. METHODS: Data was extracted from a multicenter Virtual PICU Database, or VPS, for children with a CVC and presence of a VTE...
January 2018: Thrombosis Research
https://www.readbyqxmd.com/read/29206731/enteral-feeding-practices-in-infants-with-congenital-heart-disease-across-european-picus-a-european-society-of-pediatric-and-neonatal-intensive-care-survey
#19
Lyvonne N Tume, Reinis Balmaks, Eduardo da Cruz, Lynne Latten, Sascha Verbruggen, Frédéric V Valla
OBJECTIVES: To describe enteral feeding practices in pre and postoperative infants with congenital heart disease in European PICUs. DESIGN: Cross-sectional electronic survey. SETTING: European PICUs that admit infants with congenital heart disease pre- and postoperatively. PARTICIPANTS: One senior PICU physician or designated person per unit. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Fifty-nine PICUs from 18 European countries responded to the survey...
December 4, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/29184812/fertility-counseling-and-preservation-considerations-for-the-pediatric-endocrinologist
#20
REVIEW
Amanda J Saraf, Leena Nahata
Infertility is a distressing consequence of numerous pediatric medical conditions and treatments. The field of pediatric fertility preservation has expanded rapidly over the past decade, and clinical guidelines emphasize the importance of discussing infertility risk and fertility preservation options with patients and families in a timely manner. Understanding the various mechanisms and presentations of fertility issues across diagnoses is imperative to provide counseling to patients and families, and identify individuals who may benefit from fertility preservation...
October 2017: Translational Pediatrics
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