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Hypothyroid congenital

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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/29026269/clinical-characteristics-of-septo-optic-dysplasia-accompanied-by-congenital-central-hypothyroidism-in-japan
#2
Keisuke Nagasaki, Takuo Kubota, Hironori Kobayashi, Hirotake Sawada, Chikahiko Numakura, Shohei Harada, Kei Takasawa, Kanshi Minamitani, Tomohiro Ishii, Satoshi Okada, Hotaka Kamasaki, Shigetaka Sugihara, Masanori Adachi, Toshihiro Tajima
Septo-optic dysplasia (SOD) is a congenital anomaly in which agenesis of the septum pellucidum and optic nerve hypoplasia are accompanied by hypopituitarism. Typically, the symptoms develop in 3 organs, the brain, eyes, and pituitary, and approximately one third of the patients present with all of the three cardinal features. The diagnostic criteria for SOD were established in Japan in 2015. The purpose of this study is to review clinical features regarding SOD patients with hypopituitarism in Japan. In this study, 21 patients with SOD were identified by a questionnaire survey for congenital central hypothyroidism...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29016752/hypothyroidism-and-congenital-long-qt-additive-effect-causing-torsades
#3
Moustafa Elsheshtawy, Felix Yang, Ashok Khanna
No abstract text is available yet for this article.
July 7, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28989870/prepregnancy-hypothyroidism-versus-gestational-hypothyroidism-a-comparative-study
#4
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
#5
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/28984256/neonatal-endocrine-labomas-pitfalls-and-challenges-in-reporting-neonatal-hormonal-reports
#6
Sachin Chittawar, Deep Dutta, Deepak Khandelwal, Rajiv Singla
This review highlights pitfalls and challenges in interpreting neonatal hormone reports. Pre-analytical errors contribute to nearly 50% of all errors. Modern chemiluminescence assay are more accurate, have lower risk of Hook's effect, but continue to have problems of assay interference. Liquid chromatography mass spectroscopy is gold standard for most hormone assays. Neonatal hypoglycemia diagnostic cut-offs are lower than adults. Random growth hormone testing is of value in diagnosing growth hormone deficiency in neonates...
September 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28977164/mechanisms-involved-in-hearing-disorders-of-thyroid-ontogeny-a-literature-review
#7
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
#8
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/28955133/evaluation-of-uric-acid-levels-thyroid-function-and-anthropometric-parameters-in-japanese-children-with-down-syndrome
#9
Tomomi Niegawa, Kimitaka Takitani, Ryuzo Takaya, Manabu Ishiro, Yuichi Kuroyanagi, Keisuke Okasora, Yukako Minami, Takuya Matsuda, Hiroshi Tamai
Down syndrome, caused by trisomy 21, is characterized by congenital abnormalities as well as mental retardation. From the neonatal stage through adolescence, patients with Down syndrome often have several complications. Thus, it is important to attain knowledge of the prevalence of these comorbidities in children with Down syndrome. We, therefore, evaluated the biochemical data, thyroid function, and anthropometric parameters, and analyzed the association among them in Japanese children and early adolescents with Down syndrome...
September 2017: Journal of Clinical Biochemistry and Nutrition
https://www.readbyqxmd.com/read/28954735/bcli-polymorphism-of-the-glucocorticoid-receptor-and-adrenal-crisis-in-primary-adrenal-insufficiency
#10
Kathrin Zopf, Kathrin Frey, Tina Kienitz, Manfred Ventz, Britta Bauer, Marcus Quinkler
CONTEXT: Patients with primary adrenal insufficiency (PAI) or congenital adrenal hyperplasia (CAH) are at high risk of adrenal crisis (AC). Glucocorticoid sensitivity is at least partially genetically determined by polymorphisms of the glucocorticoid receptor (GR). OBJECTIVES: To determine if number of intercurrent illnesses and AC are associated with the GR gene polymorphism BclI in patients with PAI and CAH. DESIGN AND PATIENTS: This prospective, longitudinal study over 37...
September 27, 2017: Endocrine Connections
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
#11
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
#12
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
#13
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
#14
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
#15
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/28919624/frequency-distribution-of-congenital-anomaly-and-associated-maternal-risk-factors
#16
K Fatema, T Das, A Mannan, S M Zaman
This study was done to find out the maternal risk factors associated with congenital anomaly. This cross-sectional observational study was carried out in the Department of Obstetrics and Gynaecology, Bangabandhu Sheikh Mujib Medical University (BSMMU) Hospital, Dhaka, Bangladesh from January 2011 to December 2011. During this study period 78 patients had pregnancy with congenital anomaly and delivered in the Department of Obstetrics and Gynaecology. Women with ultrasound report of congenitally abnormal fetus irrespective of gestational age were included...
July 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28917084/evaluation-of-neurodevelopment-of-children-with-congenital-hypothyroidism-by-the-denver-developmental-screening-test
#17
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
#18
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
#19
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/28910808/detecting-congenital-central-hypothyroidism-by-newborn-screening-difficulty-in-distinguishing-from-congenital-thyroxine-binding-globulin-deficiency
#20
Kara J Connelly, Melinda J Pierce, Cheryl Hanna, Stephen H LaFranchi
BACKGROUND/AIMS: Congenital central hypothyroidism (CH-C) can be detected on newborn screening (NBS) by programs using thyroxine (T4)-reflex thyroid-stimulating hormone (TSH) test approach. CH-C must be distinguished from T4-binding globulin (TBG) deficiency. We sought to determine whether thyroid function tests reliably separate CH-C from TBG deficiency. METHODS: We analyzed NBS and serum free and total T4, T3 resin uptake (T3RU) or TBG, and TSH for infants in the Northwest Regional NBS Program (NWRSP) between the years 2008 and 2015 with either CH-C or TBG deficiency...
September 14, 2017: Hormone Research in Pædiatrics
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