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"Congenital hypothyroidism"

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https://www.readbyqxmd.com/read/29026407/congenital-hypothyroidism-insights-into-pathogenesis-and-treatment
#1
REVIEW
Christine E Cherella, Ari J Wassner
Congenital hypothyroidism occurs in approximately 1 in 2000 newborns and can have devastating neurodevelopmental consequences if not detected and treated promptly. While newborn screening has virtually eradicated intellectual disability due to severe congenital hypothyroidism in the developed world, more stringent screening strategies have resulted in increased detection of mild congenital hypothyroidism. Recent studies provide conflicting evidence about the potential neurodevelopmental risks posed by mild congenital hypothyroidism, highlighting the need for additional research to further define what risks these patients face and whether they are likely to benefit from treatment...
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/28989870/prepregnancy-hypothyroidism-versus-gestational-hypothyroidism-a-comparative-study
#2
Prashant Ulhas Kaduskar, Mala Dharmalingam, Pramila Kalra
INTRODUCTION: Hypothyroidism managed inadequately in pregnancy may have grave outcomes for both mother and baby. Understanding pregnancy outcomes in our country with low awareness about thyroid diseases is important. OBJECTIVES: The objectives of the study were to evaluate demographic features and biochemical parameters in patients with prepregnancy hypothyroidism versus patients diagnosed to have primary hypothyroidism during pregnancy and to assess pregnancy outcomes...
September 2017: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28986152/vocal-evaluation-of-children-with-congenital-hypothyroidism
#3
Ana Paula Dassie-Leite, Mara Behlau, Suzana Nesi-França, Monica Nunes Lima, Luiz de Lacerda
OBJECTIVE: To evaluate the vocal characteristics of a group of children with congenital hypothyroidism (CH) and the association of these characteristics with the children's clinical, laboratory, and therapeutic profiles. MATHERIAL AND METHODS: Observational, analytical, cross-sectional study including 200 prepubertal children, of whom 100 had CH (study group [SG]) and 100 had no CH (control group [CG]). The following parameters were evaluated: 1) history (identification, complaints, and interfering variables), 2) auditory-perceptual and acoustic evaluation (samples analyzed by a group of specialists, and objectively by a computer program), 3) self-assessment scores in the Pediatric Voice-Related Quality-of-Life (PVRQoL) survey, 4) laryngological evaluation (presence or absence of laryngeal lesions and data regarding glottal closure), and 5) medical records (CH etiology, age at treatment initiation, disease severity at diagnosis, treatment quality, and thyroid function tests on the day of the examination)...
October 3, 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/28977164/mechanisms-involved-in-hearing-disorders-of-thyroid-ontogeny-a-literature-review
#4
Caio Leônidas Oliveira de Andrade, Gabriela Carvalho Machado, Luciene da Cruz Fernandes, Jamile Morais de Albuquerque, Luciana Lyra Casais-E-Silva, Helton Estrela Ramos, Crésio de Aragão Dantas Alves
Endocochlear, retrocochlear and/or central origin hearing damage may be related to the absence of appropriate levels of thyroid hormone during morphogenesis and/or auditory system development. Hearing disorders related to the thyroid are not well studied, despite speculation on the pathophysiological mechanisms. The objective of this review was to characterize the main pathophysiological mechanisms of congenital hypothyroidism and to evaluate the relationship with central and peripheral hearing disorders. We conducted a literature review using the databases MedLine, LILACS, Cochrane Library, SciELO, Institute for Scientific Information (ISI), Embase, and Science Direct between July and September on 2016...
September 18, 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28972010/thyroid-hormone-regulates-hematopoiesis-via-the-tr-klf9-axis
#5
Ying Zhang, Yuanyuan Xue, Chunwei Cao, Jiaojiao Huang, Qianlong Hong, Tang Hai, Qitao Jia, Xianlong Wang, Guosong Qin, Jing Yao, Xiao Wang, Qiantao Zheng, Rui Zhang, Yongshun Li, Ailing Luo, Nan Zhang, Guizhi Shi, Yanfang Wang, Hao Ying, Zhonghua Liu, Hongmei Wang, Anming Meng, Qi Zhou, Hong Wei, Feng Liu, Jianguo Zhao
Congenital hypothyroidism (CH) is one of the most prevalent endocrine diseases and is often accompanied by anemia and immunodeficiency in patients, for which the underlying mechanisms remain unknown. Here we created a severe CH model together with anemia and T lymphopenia to mimic the clinical features of hypothyroid patients by ethylnitrosourea (ENU) mutagenesis in Bama miniature pigs. A novel recessive c.1226A>G transition of the dual oxidase 2 (DUOX2) gene was identified as the causative mutation. This mutation hindered the production of hydrogen peroxide (H2O2) and thus contributed to thyroid hormone (TH) synthesis failure...
September 25, 2017: Blood
https://www.readbyqxmd.com/read/28954305/novel-mutations-in-the-nkx2-1-gene-and-the-pax8-gene-in-a-boy-with-brain-lung-thyroid-syndrome
#6
Pia Hermanns, Małgorzata Kumorowicz-Czoch, Helmut Grasberger, Samuel Refetoff, Joachim Pohlenz
Objective To elucidate the molecular mechanism which causes thyroid dysgenesis (TD) in a boy with brain-lung-thyroid syndrome. Design, patients, measurements We describe a patient with TD, respiratory disease and cerebral palsy who is heterozygous for mutations in two different genes, the PAX8 (p.E234K) and the NKX2.1 (p.A329GfsX108). In vitro studies were performed to functionally characterize these mutations. Congenital hypothyroidism (CH) was identified by neonatal screening associated with a hypoplastic thyroid gland...
September 27, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28952455/intelligence-quotient-at-the-age-of-6-years-of-iranian-children-with-congenital-hypothyroidism
#7
Khaled Rahmani, Shahin Yarahmadi, Koorosh Etemad, Yadollah Mehrabi, Nasrin Aghang, Ahmad Koosha, Hamid Soori
OBJECTIVE: The aim of the present study was to evaluate the success rate of the national neonates screening program in maintenance of intelligent quotient (IQ) of children with congenital hypothyroidism in Iran. DESIGN: Retrospective cohort study. METHODS: The IQ scores, in three subsets of verbal, non verbal (Performance) and full scale IQ, of 240 children diagnosed with Ttransient congenital hypothyroidism (TCH) and Permanent congenital hypothyroidism (PCH), from 5 provinces in 5 different geographical areas of Iran, were measured at the age of 6 years using revised Wechsler pre school and primary scale of intelligence and compared with 240 healthy children...
September 26, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28938886/congenital-hypothyroidism-due-to-ectopic-sublingual-thyroid-gland-in-prader-willi-syndrome-a-case-report
#8
Sarah Bocchini, Danilo Fintini, Graziano Grugni, Arianna Boiani, Alessio Convertino, Antonino Crinò
BACKGROUND: Thyroid gland disorders are variably associated with Prader-Willi syndrome (PWS). Many of the clinical features in newborns with PWS are similar to those found in congenital hypothyroidism (CH). CASE PRESENTATION: We report a case of a girl with CH and PWS. At the age of 9 months CH caused by an ectopic sublingual thyroid was diagnosed, and hormone replacement therapy was started. In spite of this treatment a decrease in growth velocity, weight excess and delayed development were observed...
September 22, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28931318/thyroid-function-testing-in-neonates-with-maternal-history-of-disease
#9
Lisa Underland, Lisa Kenigsberg, Kristina M Derrick, Rebecca Crespi, Tara Kaushal, Leslie Lam
Maternal history of thyroid disease can cause congenital hypothyroidism due to thyroid-stimulatng hormone (TSH) blocking antibodies. No guidelines exist regarding testing beyond the newborn screen. TSH and T4 levels exhibit significant fluctuations after birth which complicates testing. A total of 561 newborns with thyroid function testing done for maternal history of thyroid disease in the newborn nursery were identified retrospectively via chart review, and thyroid disease status was assessed in 352. Newborn screening data were also obtained...
September 1, 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/28923959/ncor1-independent-mechanism-plays-a-role-in-the-action-of-the-unliganded-thyroid-hormone-receptor
#10
Arturo Mendoza, Inna Astapova, Hiroaki Shimizu, Molly R Gallop, Lujain Al-Sowaimel, S M Dileas MacGowan, Tim Bergmann, Anders H Berg, Danielle E Tenen, Christopher Jacobs, Anna Lyubetskaya, Linus Tsai, Anthony N Hollenberg
Nuclear receptor corepressor 1 (NCoR1) is considered to be the major corepressor that mediates ligand-independent actions of the thyroid hormone receptor (TR) during development and in hypothyroidism. We tested this by expressing a hypomorphic NCoR1 allele (NCoR1ΔID), which cannot interact with the TR, in Pax8-KO mice, which make no thyroid hormone. Surprisingly, abrogation of NCoR1 function did not reverse the ligand-independent action of the TR on many gene targets and did not fully rescue the high mortality rate due to congenital hypothyroidism in these mice...
September 18, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28917084/evaluation-of-neurodevelopment-of-children-with-congenital-hypothyroidism-by-the-denver-developmental-screening-test
#11
Ayşe Derya Buluş, Esra Tiftik
BACKGROUND: Thyroid hormones are essential for growth and brain development in childhood. Although congenital hypothyroidism (CH) is the most common reason for mental retardation, normal neurological development can be achieved through early and effective treatment. The aim of the present study was to evaluate the neurological development of CH patients aged 24-56 months. METHODS: The study included a total of 116 healthy control subjects and 112 patients aged 24-56 months who were diagnosed with CH during the neonatal period and were being followed up at the Pediatric Endocrinology Department, Keçiören Training and Research Hospital, between 2012 and 2015...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28916230/fighting-against-congenital-hypothyroidism-old-soldiers-never-die
#12
EDITORIAL
Shio-Jean Lin
No abstract text is available yet for this article.
September 6, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28910997/paediatric-nuclear-medicine-imaging
#13
Lorenzo Biassoni, Marina Easty
Background: Nuclear medicine imaging explores tissue viability and function by using radiotracers that are taken up at cellular level with different mechanism. This imaging technique can also be used to assess blood flow and transit through tubular organs. Nuclear medicine imaging has been used in paediatrics for decades and this field is continuously evolving. Sources of data: The data presented comes from clinical experience and some milestone papers on the subject...
September 1, 2017: British Medical Bulletin
https://www.readbyqxmd.com/read/28898885/pilot-neonatal-screening-program-for-central-congenital-hypothyroidism-evidence-of-significant-detection
#14
Débora Braslavsky, Maria Virginia Méndez, Laura Prieto, Ana Keselman, Rosa Enacan, Laura Gruñeiro-Papendieck, Nicolas Jullien, Alexandru Savenau, Rachel Reynaud, Thierry Brue, Ignacio Bergadá, Ana Chiesa
BACKGROUND/AIM: Congenital hypothyroidism (CH) is a heterogeneous entity. Neonatal screening programs based on thyrotropin (TSH) determination allow primary CH diagnosis but miss central CH (CCH). CCH causes morbidity, alerts to other pituitary deficiencies, and is more prevalent than previously thought. We aimed at developing a pilot neonatal screening program for CCH detection. PATIENTS AND METHODS: A prospective 2-year pilot neonatal screening study based on simultaneous dried blood specimen TSH and thyroxine (T4) measurements was implemented in term newborns aged 2-7 days...
September 12, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28886330/cornelia-de-lange-syndrome-with-thyroid-agenesis-of-an-indonesian-patient
#15
A M Maskoen, B Laksono, R Hajjah, A Zada, L P Suciati, P N Fauziah, H M Nataprawira
Cornelia de Lange syndrome (CdLs), which is also called Brachmann de Lange syndrome, is a congenital disorder characterized by distinctive facial features, prenatal and postnatal growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, and associated malformations that mainly involve the upper extremities. The prevalence ranges from 1:100,000 to as high as 1:10,000. Most cases (50-60%) were carried mutation in NIPBL gene. To our knowledge this is the first CdLs Indonesian case that reported with molecular analysis study...
August 30, 2017: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/28868522/primary-care-provider-management-of-congenital-hypothyroidism-identified-through-newborn-screening
#16
N A Rosenthal, E Bezar, S Mann, L K Bachrach, S Banerjee, M E Geffner, M Gottschalk, S K Shapira, L Hasegawa, L Feuchtbaum
OBJECTIVE: To assess Primary Congenital Hypothyroidism (CH) management patterns and feasibility of providing long-term care for patients with CH identified through newborn screening by Primary Care Providers (PCPs) in California and Hawaii. STUDY DESIGN: A survey was mailed to all physicians (N=823) listed as the referral doctor for confirmed patients with CH identified through newborn screening programs in both states between 01/01/2009-12/31/2013. Information was collected on CH management patterns, barriers to providing care, and knowledge on CH treatment...
2017: Ann Thyroid Res
https://www.readbyqxmd.com/read/28867693/mild-thyroid-peroxidase-deficiency-caused-by-tpo-mutations-with-residual-activity-correlation-between-clinical-phenotypes-and-enzymatic-activity
#17
Satoshi Narumi, Larry A Fox, Keisuke Fukudome, Zenichi Sakaguchi, Chiho Sugisawa, Kiyomi Abe, Kaori Kameyama, Tomonobu Hasegawa
Thyroid peroxidase (TPO) deficiency, caused by biallelic TPO mutations, is a well-established genetic form of congenital hypothyroidism (CH). More than 100 patients have been published, and the patients have been diagnosed mostly in the frame of newborn screening (NBS) programs. Correlation between clinical phenotypes and TPO activity remains unclear. Here, we report clinical and molecular findings of two unrelated TPO mutation-carrying mildly hypothyroid patients. The two patients were born at term after an uneventful pregnancy and delivery, and were NBS negative...
September 1, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28811156/screening-of-congenital-hypothyroidism-in-preterm-low-birth-weight-and-very-low-birth-weight-neonates-a-systematic-review
#18
REVIEW
Mahin Hashemipour, Silva Hovsepian, Arman Ansari, Mojtaba Keikha, Pooyan Khalighinejad, Negar Niknam
Evidence from different screening programs indicated that the rate of congenital hypothyroidism (CH) was higher in pre-term and low-birth-weight (LBW) newborns than normal ones. Incomplete development of hypothalamic-pituitary axis in this group of neonates results in the delayed rise of TSH and missing cases with CH. Hence, there is a great need for a practicable systematic screening method for proper diagnosis of CH in this group of neonates. In this review, we systematically reviewed papers with the following key words ([Congenital Hypothyroidism AND Screening AND Thyroxine AND Thyroid Stimulating Hormone AND Low Birth Weight AND Premature]) in international electronic databases including PubMed, Scopus, and Google Scholar...
July 22, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28810813/newborn-thyroid-screening-influence-of-pre-analytic-variables-on-dried-blood-spot-thyrotropin-measurement
#19
Allison M Butler, Wiyada Charoensiriwatana, Piamnukul Krasao, Rotjanapan Pankanjanato, Penpan Thong-Ngao, Randall C Polson, Gregory Snow, Joel Ehrenkranz
BACKGROUND: Measuring thyrotropin (TSH) eluted from a dried blood spot (DBS) is used to screen an estimated 30 million newborns annually for congenital hypothyroidism (CH). Newborn thyroid screening has eliminated cretinism from the industrialized world and decreased the adverse effects of unrecognized CH on neurocognitive development. Hematocrit, a pre-analytic variable that affects the measurement of TSH from a DBS, contributes to the imprecision of DBS TSH measurement and could account for false-negative and false-positive DBS newborn screening test results...
September 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28809751/influence-of-topical-iodine-containing-antiseptics-used-during-delivery-on-recall-rate-of-congenital-hypothyroidism-screening-program
#20
Majid Valizadeh, Farzaneh Moezzi, Zohreh Khavassi, Mohammad Movahedinia, Seideh Mazloomzadeh, Ladan Mehran
BACKGROUND: The proportion of newborns recalled during neonatal screening programs for congenital hypothyroidism (CH) varies substantially by country and may be higher in settings where povodine iodine (PVP-I) is used during delivery. We assessed this hypothesis by substituting PVP-I for chlorhexidine (CHL) and evaluated the reduction in the recall rate of the Irainian newborn screening program. METHODS: This study investigated 2282 neonates of mothers admitted to a local hospital for delivery between December 2012 and October 2013...
August 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
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