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"Congenital hypothyroidism"

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https://www.readbyqxmd.com/read/28444304/a-frequent-oligogenic-involvement-in-congenital-hypothyroidism
#1
Tiziana de Filippis, Giulia Gelmini, Elvezia Paraboschi, Maria Cristina Vigone, Marianna Di Frenna, Federica Marelli, Marco Bonomi, Alessandra Cassio, Daniela Larizza, Mirella Moro, Giorgio Radetti, Mariacarolina Salerno, Diego Ardissino, Giovanna Weber, Davide Gentilini, Fabiana Guizzardi, Stefano Duga, Luca Persani
Congenital Hypothyroidism (CH), the most frequent form of preventable mental retardation, is predicted to have a relevant genetic origin. However, CH is frequently reported to be sporadic and candidate gene variations were found in < 10% of the investigated patients. Here, we characterize the involvement of 11 candidate genes through a systematic Next Generation Sequencing (NGS) analysis. The NGS was performed in 177 unrelated CH patients (94 gland-in-situ; 83 dysgenesis) and in 3,538 control subjects...
April 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28428677/hypothyroidism-in-pediatric-population-bosnian-and-herzegovinian-situation
#2
Edo Hasanbegovic, Snijezana Hasanbegovic, Edin Begic
INTRODUCTION: Thyroid gland diseases in children are in second place by frequency among all endocrine disorders. When interpreting the results of the thyroid function assessment it should be taken into account the significant differences in the concentrations of TSH, thyroid hormones, thyroid binding proteins and calcitonin among children of different ages. GOAL: To present the age and sex structure of the patients diagnosed with hypothyroidism, evaluate diagnostic methods for making diagnosis, evaluation of etiology of hypothyroidism, with special review of the therapeutic modality...
February 2017: Medical Archives
https://www.readbyqxmd.com/read/28419241/central-hypothyroidism-due-to-a-trhr-mutation-causing-impaired-ligand-affinity-and-transactivation-of-gq
#3
Marta García, Jesús González de Buitrago, Mireia Jiménez-Rosés, Leonardo Pardo, Patricia M Hinkle, José C Moreno
Context: Central congenital hypothyroidism (CCH) is an underdiagnosed disorder characterized by deficient production and bioactivity of TSH leading to low thyroid hormone synthesis. TRH receptor (TRHR) defects are rare recessive disorders usually associated with incidentally identified CCH and short stature in childhood. Objectives: Clinical and genetic characterization of a consanguineous family of Roma origin with central hypothyroidism and identification of underlying molecular mechanisms...
April 17, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28414800/semantic-prioritization-of-novel-causative-genomic-variants
#4
Imane Boudellioua, Rozaimi B Mahamad Razali, Maxat Kulmanov, Yasmeen Hashish, Vladimir B Bajic, Eva Goncalves-Serra, Nadia Schoenmakers, Georgios V Gkoutos, Paul N Schofield, Robert Hoehndorf
Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. Here, we demonstrate the PhenomeNET Variant Predictor (PVP) system that exploits semantic technologies and automated reasoning over genotype-phenotype relations to filter and prioritize variants in whole exome and whole genome sequencing datasets...
April 17, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28412200/three-year-follow-up-of-children-with-abnormal-newborn-screening-results-for-congenital-hypothyroidism
#5
Min-Jae Kang, Hye-Rim Chung, Yeon-Joung Oh, Young-Suk Shim, Seung Yang, Il-Tae Hwang
BACKGROUND: To analyze predictive factors suggesting transient congenital hypothyroidism (TCH) compared to permanent congenital hypothyroidism (PCH) or transient thyroid function test (TFT) abnormalities among children who had positive screening results at our centers over the past decade. METHODS: A retrospective chart review of 105 subjects who presented elevated TSH levels on a newborn screening test (NST) was done. TCH was defined when a trial-off therapy was successful, and PCH was defined when a trial failed or when the subject was kept on medication beyond 3 years of age...
March 27, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28398607/wagr-syndrome-and-congenital-hypothyroidism-in-a-child-with-a-mosaic-11p13-deletion
#6
Minh Tuan Huynh, Elise Boudry-Labis, Bénédicte Duban, Joris Andrieux, Cong Toai Tran, Heidi Tampere, Delphine Ceraso, Sylvie Manouvrier, Gérard Tachdjian, Catherine Roche-Lestienne, Catherine Vincent-Delorme
Wilm's tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome, a rare genetic disorder, is caused by the loss of 11p13 region including PAX6 and WT1. We report novel findings in a 28-month-old boy with aniridia, Wilm's tumor, congenital hypothyroidism, and sublingual thyroid ectopia. He was found to have a mosaic 5.28 Mb interstitial deletion of chromosome 11p13 deleting PAX6 and WT1. In order to clarify the mechanism underlying his thyroid dysgenesis, sequence analysis of candidate thyroid developmental genes was performed...
April 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28368265/neurodevelopmental-outcome-of-children-with-congenital-hypothyroidism-diagnosed-in-a-national-screening-program-in-turkey
#7
Bahar Toklu Baysal, Bora Baysal, Ferah Genel, Baris Erdur, Erhan Ozbek, Korcan Demir, Behzat Ozkan
OBJECTIVE: To study the factors affecting a neurodevelopmental status of children with congenital hypothyroidism, diagnosed on national screening program. METHODS: The study was performed in the Pediatric Endocrinology Department of Dr. Behcet Uz Children's Hospital between May 2012 and May 2013. Children with congenital hypothyroidism, aged between 24 and 36 months, diagnosed by national screening program were included in the study group. Healthy subjects at the same age group consisted of the control group...
March 29, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28359061/intrafamilial-phenotypic-variability-and-consequences-of-non-compliance-with-treatment-in-congenital-adrenal-hyperplasia-and-congenital-hypothyroidism-within-a-single-family%C3%A2
#8
Nicola Improda, Caroline Ponmani, Nadia Schoenmakers, Senthil Senniappan, Abigail Atterbury, Angela Barnicoat, Krishna Chatterjee, Mehul T Dattani
BACKGROUND: Coexistence of congenital adrenal hyperplasia (CAH) and congenital hypothyroidism (CH) due to TG mutation in the same non-consanguineous family is rare. CASE SERIES: We report 4 siblings born to unrelated parents, the father being an asymptomatic carrier of homozygous p.V281L and heterozygous p.I172N CYP21A2 mutations. Sibling 1 had salt-wasting CAH (CYP21A2 genotype Intron 2 splice/p.I172N and p.V281L). She also had CH (TG genotype p.R296/ p.T1416Rfs*30) and learning difficulties...
March 30, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28358714/effects-of-l-thyroxine-treatment-on-heart-functions-in-infants-with-congenital-hypothyroidism
#9
Alev Arslan, Veysel Nijat Baş, Salih Uytun, Hatice Gamze Poyrazoğlu
BACKGROUND: Impaired heart functions in newborns with hypothyroidism should be reversed by levothyroxine substitution therapy. The aim of the study was to investigate heart functions with congenital hypothroidism (CH) in newborns and changes after levothyroxine substitution therapy, measured with tissue Doppler echocardiography and conventional echocardiography. METHODS: The study included 30 neonates with CH and 34 healthy controls. Echocardiography were performed at baseline, 2nd week and 6th month of therapy...
March 30, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28356101/erratum-to-reference-intervals-for-thyroid-stimulating-hormone-and-free-thyroxine-derived-from-neonates-undergoing-routine-screening-for-congenital-hypothyroidism-at-a-university-teaching-hospital-in-nairobi-kenya-a-cross-sectional-study
#10
Geoffrey Omuse, Ali Kassim, Francis Kiigu, Syeda Ra'ana Hussain, Mary Limbe
No abstract text is available yet for this article.
March 29, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28350538/possible-effects-of-neonatal-vitamin-b12-status-on-tsh-screening-program-a-cross-sectional-study-from-turkey
#11
Zerrin Onal, Seda Balkaya, Atilla Ersen, Neval Mutlu, Hasan Onal, Erdal Adal
BACKGROUND: In this study we evaluated whether vitamin B12 deficiency affects neonatal screening (NS) for congenital hypothyroidism (CH). METHODS: A cross-sectional study conducted from 2010 to 2011. A total of 10,740 infants were born in our hospital in this period. Thyroid-stimulating hormone (TSH) was tested for NS and neonates with abnormal screening results (TSH>20 mIU/L) were re-examined. Two hundred and twenty-nine re-called subjects (re-call rate 2.3%) were compared to 77 randomly selected newborns with normal TSH screening among these term newborns in terms of serum TSH, free T4, vitamin B12 and homocysteine status...
March 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28337809/expanded-newborn-screening-program-in-saudi-arabia-incidence-of-screened-disorders
#12
Majid Alfadhel, Ali Al Othaim, Saif Al Saif, Fuad El Mutairi, Moeenaldeen Alsayed, Zuhair Rahbeeni, Hamad Alzaidan, Mohammed Alowain, Zuhair Al-Hassnan, Mohamad Saeedi, Saeed Aljohery, Ali Alasmari, Eissa Faqeih, Mansour Alwakeel, Maher AlMashary, Sulaiman Almohameed, Mohammed Alzahrani, Abeer Migdad, Osama Y Al-Dirbashi, Mohamed Rashed, Mohamed Alamoudi, Minnie Jacob, Lujane Alahaidib, Fahd El-Badaoui, Amal Saadallah, Ayman Alsulaiman, Wafaa Eyaid, Ali Al-Odaib
AIM: To address the implementation of the National Newborn Screening Program (NBS) in Saudi Arabia and stratify the incidence of the screened disorders. METHODS: A retrospective study conducted between 1 August 2005 and 31 December 2012, total of 775 000 newborns were screened from 139 hospitals distributed among all regions of Saudi Arabia. The NBS Program screens for 16 disorders from a selective list of inborn errors of metabolism (IEM) and endocrine disorders...
March 24, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28328531/provider-variability-in-the-initial-diagnosis-and-treatment-of-congenital-hypothyroidism
#13
Luke Cielonko, Tyler Hamby, John S Dallas, Luke Hamilton, Don P Wilson
BACKGROUND: Early diagnosis and expeditious treatment of newborns with congenital hypothyroidism (CH) is necessary to avoid mental retardation. METHODS: A survey of 44 practitioners in the southern US was conducted to better understand common practices regarding neonatal CH and the findings were compared with current guidelines in the US and Europe. RESULTS: Responses indicated some consensus that 10-15 μg of thyroid hormone/kg/day was the appropriate dosage...
March 22, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28300959/fine-motor-skills-and-expressive-language-a-study-with-children-with-congenital-hypotyreoidism
#14
Renata Camargo Frezzato, Denise Castilho Cabrera Santos, Maura Mikie Fukujima Goto, Michelle Prado Cabral do Ouro, Carolina Taddeo Mendes Dos Santos, Vivian Dutra, Maria Cecília Marconi Pinheiro Lima
Purpose: To screen the global development of children with and without congenital hypothyroidism and to investigate the association between fine motor skills and expressive language development in both groups. Methods: This is a prospective study of a cohort of children diagnosed with Congenital Hypothyroidism and monitored in a reference service for congenital hypothyroidism of a public hospital and of children without this disorder. The screening was performed using the Bayley Scales of Infant Development III in the cognitive, gross and fine motor skills, and receptive and expressive language domains...
March 9, 2017: CoDAS
https://www.readbyqxmd.com/read/28287203/-the-iodine-prophylaxis-the-experience-in-the-autonomous-province-of-bolzano-south-tyrol
#15
Fabrizio Franzellin, Lucio Lucchin
Since ancient times in South Tyrol there was evidence of endemic goitre caused by iodine deficiency. In the early 80's an epidemiological research on adults and primary and secondary school children reported in the least a prevalence of goitre from grade 1 B-3 (WHO) of 23,66% (limits WHO >5%) and an urinary iodine of 10,2 µgI/L. Therefore South Tyrol population presented heavy endemic goitre. In 1982 started a generalized iodine prophylaxis with alimentary iodined salt after an intense prevention campaign...
February 2017: Recenti Progressi in Medicina
https://www.readbyqxmd.com/read/28286255/a-further-case-of-brain-lung-thyroid-syndrome-with-deletion-proximal-to-nkx2-1
#16
Mira Kharbanda, Pia Hermanns, Jeremy Jones, Joachim Pohlenz, Iain Horrocks, Malcolm Donaldson
Brain-lung-thyroid syndrome (OMIM #610978) is associated with mutations in the NK2 homeobox 1 (NKX2-1) gene, a transcription factor important in development. 50% of patients are affected by the full triad, comprising congenital hypothyroidism, benign hereditary chorea and infant respiratory distress syndrome. Four cases have previously been reported where a patient has features consistent with brain-lung-thyroid syndrome and a chromosome 14q13 deletion adjacent to, but not disrupting, NKX2-1. We present a patient who has a phenotype consistent with brain-lung-thyroid syndrome, featuring congenital hypothyroidism and choreoathetoid movements with gross motor delay...
March 7, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28285292/prevalence-of-congenital-hypothyroidism-in-northern-border-region-of-kingdom-of-saudi-arabia
#17
Shehab A Alenazi, Sawsan H Abdalla, Hassan T Mohamed, Amer A Balla, Abdelrahman M Abukanna
This retrospective study was done to assess the prevalence of congenital hypothyroidism among children born in Arar city, Kingdom of Saudi Arabia during years 2008 to 2014. Data were collected from newborns registry in Central hospital. The prevalence of congenital hypothyroidism was 2.6 per 10,000 live births with no gender difference.
February 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28273705/-genetic-analysis-of-tpo-duox2-and-duoxa2-genes-in-children-with-permanent-congenital-hypothyroidism-suspected-dyshormonogenesis
#18
Y L Huang, M Y Tan, X Jiang, B Li, Q Y Chen, X F Jia, C F Tang, J L Liu, L Liu
Objective: To explore the TPO, DUOX2 and DUOXA2 genotypes and phenotypes of children with permanent congenital hypothyroidism(PCH) suspected dyshormonogenesis in Guangzhou, identified and treated at Guangzhou Newborn Screening Center. Six of them were born between 2011 and 2012. Method: Retrospectively analyzed the clinical data of 9 children with PCH suspected dyshormonogenesis. Genetic analysis of TPO, DUOX2 and DUOXA2 genes were performed with Sanger sequencing. Result: Of the 9 patients, four were identified variants in TPO gene including three cases with biallelic variants and one case with monoallelic variant...
March 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28253873/extended-clinical-features-associated-with-novel-glis3-mutation-a-case-report
#19
K A Alghamdi, A B Alsaedi, A Aljasser, A Altawil, Naglaa M Kamal
BACKGROUND: Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date. Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay, facial dysmorphism, osteopenia, sensorineural deafness, choanal atresia, craniosynostosis and pancreatic exocrine insufficiency. CASE PRESENTATION: We report a new case for consanguineous parents with homozygous novel mutation in GLIS3 gene who presented with neonatal diabetes mellitus, severe resistant congenital hypothyroidism, cholestatic liver disease, bilateral congenital glaucoma and facial dysmorphism...
March 2, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28237002/congenital-hypothyroidism-role-of-nuclear-medicine
#20
REVIEW
Isabelle Keller-Petrot, Juliane Leger, Aline Sergent-Alaoui, Claire de Labriolle-Vaylet
Thyroid scintigraphy holds a key place in the etiologic workup of neonatal hypothyroidism. Routine screening for this disorder in maternity hospitals in industrialized countries, for nearly 40 years, has permitted early treatment and thereby helped to prevent its physical and mental complications. Neonatal hypothyroidism affects approximately 1 in 3000 births. The most common causes are abnormal thyroid gland development and defective hormone synthesis by an eutopic thyroid gland. The incidence of the latter has risen in recent years, for reasons that remain unclear...
March 2017: Seminars in Nuclear Medicine
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