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"Congenital hypothyroidism"

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https://www.readbyqxmd.com/read/28337809/expanded-newborn-screening-program-in-saudi-arabia-incidence-of-screened-disorders
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28225993/timing-of-thyroid-ultrasonography-in-the-etiological-investigation-of-congenital-hypothyroidism
#10
Maria de Fátima Borges, Nathalie de Almeida Sedassari, Anelise de Almeida Sedassari, Luis Ronan Marquez Ferreira de Souza, Beatriz Pires Ferreira, Beatriz Hallal Jorge Lara, Heloísa Marcelina Cunha Palhares
Objectives: To describe the findings of thyroid ultrasonography (T-US), its contribution to diagnose congenital hypothyroidism (CH) and the best time to perform it. Subjects and methods: Forty-four patients with CH were invited to undergo T-US and 41 accepted. Age ranged from 2 months to 45 years; 23 patients were females. All were treated with L-thyroxine; 16 had previously undergone scintigraphy and 30 had previous T-US, which were compared to current ones. Results: At the current T-US, the thyroid gland was not visualized in its normal topography in 10 patients (24...
February 13, 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28215547/next-generation-sequencing-analysis-of-twelve-known-causative-genes-in-congenital-hypothyroidism
#11
Xin Fan, Chunyun Fu, Yiping Shen, Chuan Li, Shiyu Luo, Qifei Li, Jingsi Luo, Jiasun Su, Shujie Zhang, Xuyun Hu, Rongyu Chen, Xuefan Gu, Shaoke Chen
BACKGROUND: Gene variants have been reported to be associated with congenital hypothyroidism (CH), the purpose of this study was to analyze the mutation spectrum and prevalence of 12 known causative genes (TSHR, PAX8, NKX2.1, NKX2.5, FOXE1, DUOX2, TG, TPO, GLIS3, NIS, SLC26A4 and DEHAL1) in CH in China. METHODS: Peripheral venous blood samples were collected from the patients. Genomic DNA was extracted from peripheral blood leukocytes. All exons and their exon-intron boundary sequences of the 12 known CH associated genes in 66 CH patients were screened by next-generation sequencing (NGS)...
February 16, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28194694/thyroid-status-of-iodine-deficient-newborn-infants-living-in-central-region-of-turkey-a-pilot-study
#12
Osman Bastug, Levent Korkmaz, Hulya Halis, Seyma Memur, Sabriye Korkut, Ahmet Ozdemir, Tamer Gunes, Mehmet Adnan Ozturk, Selim Kurtoglu
BACKGROUND: Iodine deficiency (ID) during the fetal and neonatal periods can lead to neonatal hypothyroidism. This study was conducted to evaluate the effect of ID on the thyroid hormone level of newborns living in Turkey. METHODS: Between 1998 and 2013, 71 newborns with a urinary iodine concentration <100 μg/L were recruited into the study. Data on thyroid volume, free triiodothyronine (fT3), free thyroxine (fT4), thyroid stimulating hormone (TSH), and thyroglobulin (Tg) were collected from all newborns, and on breast milk iodine from their mothers...
February 14, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28176629/congenital-hypothyroidism-facts-facets-therapy
#13
Yedukondalu Kollati, Ranga Rao Ambati, Prakash Narayana Reddy, N Satya Sampath Kumar, Rajesh K Patel, Vijaya R Dirisala
Back ground: Thyroid hormone (T3) is essential for normal development of children enabling brain development and somatic growth. However, certain individuals are genetically predisposed with insufficient or no thyroid hormones. Such a condition is termed congenital hypothyroidism (CH). OBJECTIVE: In the present review, a brief back ground about congenital hypothyroidism, factors associated with CH leading to thyroid dysgenesis and thyroid dyshormonogenesis is elaborated. Additionally, the guidelines for available treatment options, management and follow-up required for patients diagnosed with CH are discussed...
February 6, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28164077/severe-hyponatremia-and-repeated-intestinal-resections-for-intestinal-dysmotility-mimicking-congenital-aganglionic-megacolon-due-to-delay-in-the-diagnosis-of-congenital-hypothyroidism
#14
Gonul Buyukyilmaz, Demet Baltu, Tutku Soyer, Murat Tanyıldız, Huseyin Demirbilek
Congenital hypothyroidism (CH) may present with nonspecific signs and symptoms, though, majority of infants can be asymptomatic. Therefore, understimation and delay in diagnosis may result in severe complications. A 5-month-old female admitted to our clinic with the history of repeated surgical operations due to the diagnosis of congenital aganglionic megacolon. Investigations performed in our clinic revealed the diagnosis of congenital (primary) hypothyroidism due to thyroid agenesis. Histopathologic evaluation of previously resected colon sample revealed normal ganglionic cell included colon...
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28144251/permanent-and-transient-congenital-hypothyroidism-in-hamadan-west-province-of-iran
#15
Zahra Razavi, Lida Mohammadi
BACKGROUND: Primary congenital hypothyroidism (CH) is the most common treatable cause of mental retardation and can be classified into permanent and transient types. The purpose of this study was to determine the prevalence of permanent and transient congenital hypothyroidism (CH) in Hamadan, West province of Iran. METHODS: The study population included all cases with primary congenital hypothyroidism, which were confirmed by thyroid function tests (TSH levels ≥ 10 mIU/L)...
October 2016: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28118762/evaluation-of-a-follow-up-protocol-of-infants-born-to-mothers-with-antithyroid-antibodies-during-pregnancy
#16
Beatriz Fernandez Rodriguez, Alvaro Jesus Perez Diaz
AIM: To evaluate the usefulness of a follow up intervention of newborns to mothers with antithyroid antibodies during pregnancy. RESULTS: We evaluated a 72 mother-infant pairs. Two to three blood tests were done at least in 50% of the infants included in the study during the follow up. Each patient was required to go to hospital to do the blood tests. Others hospital visits were required to medical examinations and collect the results. One patient required eight blood tests...
February 14, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28101777/comorbidities-in-down-syndrome-livebirths-and-health-care-intervention-an-initial-experience-from-the-birth-defects-registry-in-southern-thailand
#17
Somchit Jaruratanasirikul, Wannee Limpitikul, Pathikan Dissaneevate, Paveena Booncharoen, Pongsak Tantichantakarun
BACKGROUND: Down syndrome (DS) is the most common chromosomal disorder causing mental retardation with a worldwide average prevalence of 1-2 cases per 1000 births. This study aimed to determine the comorbidities associated with DS and the coverage of health care services and developmental interventions for DS livebirths in southern Thailand. METHODS: A total of 149 livebirth DS infants, recruited through the prospective birth defects registry system during 2009-2013 in 3 provinces in southern Thailand, were regularly followed-up every 3-6 months...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28100324/-characteristics-of-duoxa2-gene-mutation-in-children-with-congenital-hypothyroidism
#18
Min-Yi Tan, Yong-Lan Huang, Bei Li, Xiang Jiang, Qian-Yu Chen, Xue-Fang Jia, Cheng-Fang Tang, Li Liu
OBJECTIVE: To investigate the characteristics of DUOXA2 gene mutation and the genotype-phenotype relationship in children with congenital hypothyroidism (CH) in Guangzhou, China. METHODS: A total of 20 CH patients with suspected thyroid dyshormonogenesis who had no DUOX2 gene mutation were enrolled. These patients who were born between 2011 and 2012 were screened and diagnosed with CH in the Guangzhou Newborn Screening Center. PCR and direct sequencing were used to analyze DUOXA2 gene mutation...
January 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28097835/cognitive-profiles-of-patients-with-early-detected-and-treated-congenital-hypothyroidism
#19
María L Pardo Campos, Mariel Musso, Ana Keselman, Laura Gruñeiro, Ignacio Bergadá, Ana Chiesa
INTRODUCTION: Children with congenital hypothyroidism (CH) detected by newborn screening and adequately treated may have mild cognitive deficits. OBJECTIVES">To assess the intelligence quotient of children with CH and identify the presence of specific cognitive deficits. POPULATION AND METHODS: A group of 60 children with CH detected by newborn screening, who were aged 9-10 years old and received adequate treatment since their first month of life was selected and compared to a control group of 60 children without CH in the same age range...
February 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28070054/-van-wyk-grumbach-syndrome-a-case-report-and-%C3%A2-literature-review
#20
Ping Jin, Qin Zhang, Zhaohui Mo, Fan Yang, Yanhong Xie
Van Wyk-Grumbach syndrome (VWGS) is a rare complication of prolonged untreated juvenile hypothyroidism characterized by precocious puberty and enlarged multicystic ovaries. A 13-year-old girl visited our outpatient clinic due to menstrual irregularities. She had precocious puberty, pituitary hyperplasia and multiple cystic ovaries in addition to clinical signs of severe congenital hypothyroidism. After the initiation of L-thyroxine therapy, the symptoms were alleviated in a short time. This rare syndrome is easy to be misdiagnosed as pituitary and ovarian tumor...
December 28, 2016: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
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