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Hypothyroid congenital

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https://www.readbyqxmd.com/read/28323629/effects-of-levothyroxine-on-pregnancy-outcomes-in-women-with-thyroid-dysfunction-a-meta-analysis-of-randomized-controlled-trials
#1
Jia Li, Jie Shen, Lan Qin
Context • Subclinical hypothyroidism (SCH) in pregnancy can be associated with increased complications in pregnant women and neurocognitive deficits in fetuses. Two recently published meta-analyses investigated the effects of levothyroxine (LT4) supplementation on pregnancy outcomes but did not report adverse complications and neonatal outcomes. Objectives • The study intended to assess the effects of LT4 supplementation in the treatment of pregnant women with thyroid dysfunction. Design • The research team performed a meta-analysis of randomized controlled trials (RCTs) published in PubMed, Embase, Web of Science, Chinese BioMedical Literature Service System, and China National Knowledge Infrastructure databases...
March 2017: Alternative Therapies in Health and Medicine
https://www.readbyqxmd.com/read/28302004/a-new-perspective-for-infantile-hepatic-hemangioma-in-the-age-of-propranolol-experience-at-baskent-university
#2
Faik Sarıalioğlu, Nalan Yazıcı, Ayşe Erbay, Fatih Boyvat, Şenay Demir, Figen Özçay, Nihal Uslu
Propranolol was first used in 2008 to treat hemangioma; its efficacy and safety have since changed the classical treatment indications. Infantile hepatic hemangioma presents as a spectrum of clinical conditions varying from simple asymptomatic lesions to lethal complications. Tufted hemangioma and Kaposiform hemangioendothelioma are congenital vascular tumors that lead to Kasabach-Merritt syndrome. Hemangiomas, like pure arteriovenous malformations, can cause hyperdynamic heart failure, and diffuse nodular-type hemangiomas can present with hypothyroidism...
March 2017: Experimental and Clinical Transplantation
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/28262687/the-syndrome-of-central-hypothyroidism-and-macroorchidism-igsf1-controls-trhr-and-fshb-expression-by-differential-modulation-of-pituitary-tgf%C3%AE-and-activin-pathways
#8
Marta García, Raquel Barrio, Montserrat García-Lavandeira, Angela R Garcia-Rendueles, Adela Escudero, Esther Díaz-Rodríguez, Darya Gorbenko Del Blanco, Ana Fernández, Yolanda B de Rijke, Elena Vallespín, Julián Nevado, Pablo Lapunzina, Vilborg Matre, Patricia M Hinkle, Anita C S Hokken-Koelega, María P de Miguel, José Manuel Cameselle-Teijeiro, Manuel Nistal, Clara V Alvarez, José C Moreno
IGSF1 (Immunoglobulin Superfamily 1) gene defects cause central hypothyroidism and macroorchidism. However, the pathogenic mechanisms of the disease remain unclear. Based on a patient with a full deletion of IGSF1 clinically followed from neonate to adulthood, we investigated a common pituitary origin for hypothyroidism and macroorchidism, and the role of IGSF1 as regulator of pituitary hormone secretion. The patient showed congenital central hypothyroidism with reduced TSH biopotency, over-secretion of FSH at neonatal minipuberty and macroorchidism from 3 years of age...
March 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28259872/characterization-of-thyroid-abnormalities-in-a-large-cohort-of-children-with-down-syndrome%C3%A2
#9
Melinda J Pierce, Stephen H LaFranchi, Joseph D Pinter
BACKGROUND/AIMS: Thyroid disease is a common comorbidity in individuals with Down syndrome (DS), but historical studies have multiple limitations. We assessed thyroid abnormalities in a large cohort of children with DS. METHODS: Retrospective records review from a single institution. Calculated prevalence of common thyroid abnormalities and associations with common comorbidities. RESULTS: Among 508 patients, 120 (24%) had a thyroid-related diagnosis, the majority having elevated thyrotropin treated with levothyroxine...
March 3, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28253873/extended-clinical-features-associated-with-novel-glis3-mutation-a-case-report
#10
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
#11
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
#12
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/28222800/exome-sequencing-identifies-slc26a4-gjb2-scarb2-and-duox2-mutations-in-2-siblings-with-pendred-syndrome-in-a-malaysian-family
#13
Yock-Ping Chow, Nor Azian Abdul Murad, Zamzureena Mohd Rani, Jia-Shiun Khoo, Pei-Sin Chong, Loo-Ling Wu, Rahman Jamal
BACKGROUND: Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we describing the possible PDS causal mutations in a Malaysian family with 2 daughters diagnosed with bilateral hearing loss and hypothyroidism. METHODS AND RESULTS: Whole exome sequencing was performed on 2 sisters with PDS and their unaffected parents. Our results showed that both sisters inherited monoallelic mutations in the 2 known PDS genes, SLC26A4 (ENST00000265715:c...
February 21, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28215547/next-generation-sequencing-analysis-of-twelve-known-causative-genes-in-congenital-hypothyroidism
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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