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Hypothyroid congenital

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https://www.readbyqxmd.com/read/29895366/effect-of-maternal-and-neonatal-factors-on-neonatal-thyroid-stimulating-hormone-results-from-a-population-based-prospective-cohort-study-in-china
#1
Yixin Zhang, Cong Du, Wei Wang, Wen Chen, Ping Shao, Chongdan Wang, Junhong Leng, Jun Shen, Long Tan, Wanqi Zhang
OBJECTIVE: Neonatal TSH screening is effective in detecting congenital hypothyroidism and estimating iodine status in a given population, but various factors influence TSH levels. The aim of this study was to evaluate the effect of maternal and neonatal factors on neonatal TSH levels. DESIGN AND SETTING: Data were obtained from an ongoing prospective cohort study. A total of 988 pregnant women and their newborn infants participated in the study from April 2015 to May 2017 at Tianjin Maternal and Child Health Center and Tanggu Maternity Hospital in Tianjin, China...
September 2018: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/29889220/mortality-in-children-with-early-detected-congenital-central-hypothyroidism
#2
Nitash Zwaveling-Soonawala, Jolanda C Naafs, Paul H Verkerk, A S Paul van Trotsenburg
Context: Approximately 60-80% of patients with congenital central hypothyroidism (CH-C) have multiple pituitary hormone deficiencies (MPHD), making CH-C a potentially life-threatening disease. Data on mortality in CH-C patients, however, are lacking. Objective: To study mortality rate in early detected and treated pediatric CH-C patients in the Netherlands and to investigate whether causes of death were related to pituitary hormone deficiencies. Methods: Overall mortality rate, infant mortality rate and under-5 mortality rate were calculated in all children with CH-C detected by neonatal screening between 1-1-1995 and 1-1-2013...
June 7, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29881532/a-7-year-study-on-the-prevalence-of-congenital-hypothyroidism-in-northern-iran
#3
Zahra Beheshti, Rozita Rezaei, Abbas Alipour, Mehrnoosh Kosarian, Sussan Saatsaz
Background: Congenital hypothyroidism (CH) is one of the most common congenital endocrine disorders.The present study determined the prevalence and demographic characteristics of congenital hypothyroidism in the north of Iran. Objective: To determine the prevalence of congenital hypothyroidism based on transient and permanent types with demographic characteristics in Mazandaran province in northern Iran. Methods: This retrospective descriptive survey analyzed the medical records of children with primary diagnosis of CH in health centers in all cities of Mazandaran Province between June 2009 and March 2016...
April 2018: Electronic Physician
https://www.readbyqxmd.com/read/29845893/conformation-of-the-n-terminal-ectodomain-elicits-different-effects-on-duox-function-a-potential-impact-on-congenital-hypothyroidism-caused-by-a-h2o2-production-defect
#4
Ruy Andrade Louzada, Raphaël Corre, Rabii Ameziane-El-Hassani, Fabio Hecht, Juliana Cazarin de Menezes, Camille Buffet, Denise P Carvalho, Corinne Dupuy
BACKGROUND: Dual oxidases (DUOX1 and DUOX2) were initially identified as H2O2 sources involved in thyroid hormone synthesis. Congenital hypothyroidism (CH) resulting essentially from inactivating mutations of the DUOX2 gene highlighted that DUOX2 is the major H2O2 provider to thyroperoxidase. The role of DUOX1 in the thyroid remains unknown. A recent study suggests that it could compensate for the DUOX2 deficiency in CH. Both DUOX and their maturation factors DUOXA form a stable complex at the cell surface, which is fundamental for their respective enzymatic activity...
May 30, 2018: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29805523/microrna-124-3p-inhibits-the-progression-of-congenital-hypothyroidism-via-targeting-programmed-cell-death-protein-6
#5
Wenjie Li, Dongpo Song, Yingmei Sun, Yanan Lv, Jinfeng Lv
The incidence of congenital hypothyroidism (CH) in newborn infants ranges from 1 in 3,000 to 1 in 4,000. Previous studies have indicated the neuroprotective role of microRNA (miR)-124-3p, however the expression and role of miR-124-3p in CH remain unclear. Therefore, the present study was performed to investigate the role and precise molecular mechanism of miR-124-3p in CH. Propylthiouracil (50 mg/day) was injected into the stomach of pregnant rats from gestational day 15 until parturition in order to establish a thyroid hypofunction model...
June 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29804122/permanent-decompensated-congenital-hypothyroidism-in-newborns-with-whole-blood-thyroid-stimulating-hormone-concentrations-between-8-and-10-mu-l-the-case-for-lowering-the-threshold
#6
Niamh McGrath, Colin P Hawkes, Philip Mayne, Nuala P Murphy
BACKGROUND: Congenital hypothyroidism (CHT) has a reported incidence of approximately 1 in 2,000-4,000 births. There is no consensus on the optimal cut-off whole-blood thyroid-stimulating hormone (TSH) concentration that should be used for newborn screening (NBS). The NBS programme in the Republic of Ireland has used a cut-off of 8 mU/L since 1979. The aim of this study was to determine if raising the cut-off to 10 mU/L would have resulted in undetected cases of permanent or decompensated CHT...
May 25, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29804102/congenital-hypothyroidism
#7
EDITORIAL
Wieland Kiess, Melanie Penke, Julia Gesing, Annette Stoltze, Antje Körner, Roland Pfäffle, Jürgen Kratzsch
No abstract text is available yet for this article.
May 28, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29790453/thyroid-hypoplasia-in-congenital-hypothyroidism-associated-with-thyroid-peroxidase-mutations
#8
Athanasia Stoupa, Rim Chaabane, Manelle Guériouz, Catherine Raynaud-Ravni, Patrick Nitschke, Christine Bole-Feyset, Mouna Mnif, Leila Ammar Keskes, Mongia Hachicha, Neila Belguith, Michel Polak, Aurore Carré
CONTEXT: Primary congenital hypothyroidism (CH) affects about 1:3000 newborns worldwide and is mainly caused by defects in thyroid gland development (thyroid dysgenesis, TD) or hormone synthesis. A genetic cause is identified in less than 10% of TD patients. Our aim was to identify novel candidate genes in patients with TD using next-generation sequencing tools. PATIENT FINDINGS: We used whole exome sequencing (WES) to study two families, a consanguineous Tunisian family (one child with severe thyroid hypoplasia) and a French family (two newborn siblings, with a thyroid in situ that was not enlarged on ultrasound at diagnosis)...
May 23, 2018: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29779579/genetically-modified-mouse-models-to-investigate-thyroid-development-function-and-growth
#9
REVIEW
C Löf, K Patyra, A Kero, J Kero
The thyroid gland produces thyroid hormones (TH), which are essential regulators for growth, development and metabolism. The thyroid is mainly controlled by the thyroid-stimulating hormone (TSH) that binds to its receptor (TSHR) on thyrocytes and mediates its action via different G protein-mediated signaling pathways. TSH primarily activates the Gs -pathway, and at higher concentrations also the Gq/11 -pathway, leading to an increase of intracellular cAMP and Ca2+ , respectively. To date, the physiological importance of other G protein-mediated signaling pathways in thyrocytes is unclear...
June 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29779043/glis1-3-transcription-factors-critical-roles-in-the-regulation-of-multiple-physiological-processes-and-diseases
#10
REVIEW
Anton M Jetten
Krüppel-like zinc finger proteins form one of the largest families of transcription factors. They function as key regulators of embryonic development and a wide range of other physiological processes, and are implicated in a variety of pathologies. GLI-similar 1-3 (GLIS1-3) constitute a subfamily of Krüppel-like zinc finger proteins that act either as activators or repressors of gene transcription. GLIS3 plays a critical role in the regulation of multiple biological processes and is a key regulator of pancreatic β cell generation and maturation, insulin gene expression, thyroid hormone biosynthesis, spermatogenesis, and the maintenance of normal kidney functions...
May 19, 2018: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29777899/congenital-dyshormonogenic-hypothyroidism-with-goiter-caused-by-a-sodium-iodide-symporter-slc5a5-mutation-in-a-family-of-shih-tzu-dogs
#11
E A Soler Arias, V A Castillo, J D Garcia, J C Fyfe
An iodide transport defect (ITD) in the thyroid gland was determined to cause congenital dyshormonogenic hypothyroidism with goiter (CDHG) in 2 members of a family of Shih-Tzu dogs. Strikingly, both dogs were also diagnosed with dilated cardiomyopathy at 24 and 1.5 mo of age. The only sign of hypothyroidism was a moderate growth delay in the adult dog. The ITD was recognized by the absence of uptake of technetium-99m in the salivary glands (sg) and goiter observed by scintigraphy. In the same scan, radiopharmaceutical uptake was found in the anterior mediastinum of both dogs and in the right axillary lymph node in the oldest dog...
April 24, 2018: Domestic Animal Endocrinology
https://www.readbyqxmd.com/read/29773831/dnajc17-is-localized-in-nuclear-speckles-and-interacts-with-splicing-machinery-components
#12
A Pascarella, G Ferrandino, S C Credendino, C Moccia, F D'Angelo, B Miranda, C D'Ambrosio, P Bielli, O Spadaro, M Ceccarelli, A Scaloni, C Sette, M De Felice, G De Vita, E Amendola
DNAJC17 is a heat shock protein (HSP40) family member, identified in mouse as susceptibility gene for congenital hypothyroidism. DNAJC17 knockout mouse embryos die prior to implantation. In humans, germline homozygous mutations in DNAJC17 have been found in syndromic retinal dystrophy patients, while heterozygous mutations represent candidate pathogenic events for myeloproliferative disorders. Despite widespread expression and involvement in human diseases, DNAJC17 function is still poorly understood. Herein, we have investigated its function through high-throughput transcriptomic and proteomic approaches...
May 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29762250/abnormal-expression-of-ephrin-a5-affects-brain-development-of-congenital-hypothyroidism-rats
#13
Guihai Suo, Feifei Shen, Baolan Sun, Honghua Song, Meiyu Xu, Youjia Wu
EphA5 and its ligand ephrin-A5 interaction can trigger synaptogenesis during early hippocampus development. We have previously reported that abnormal EphA5 expression can result in synaptogenesis disorder in congenital hypothyroidism (CH) rats. To better understand its precise molecular mechanism, we further analyzed the characteristics of ephrin-A5 expression in the hippocampus of CH rats. Our study revealed that ephrin-A5 expression was downregulated by thyroid hormone deficiency in the developing hippocampus and hippocampal neurons in rats...
May 14, 2018: Neuroreport
https://www.readbyqxmd.com/read/29761130/spinal-muscular-atrophy-with-respiratory-distress-type-1-a-child-with-atypical-presentation
#14
Annie Ting Gee Chiu, Sophelia Hoi Shan Chan, Shun Ping Wu, Shun Hin Ting, Brian Hon Yin Chung, Angel On Kei Chan, Virginia Chun Nei Wong
The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart failure due to septal defects that required early heart surgery and microcephaly in association with cerebral atrophy and thin corpus collosum. The subsequent asymmetrical onset of diaphragmatic paralysis, persistent hypotonia, and generalized muscle weakness led to the suspicion of spinal muscular atrophy with respiratory distress type 1. Sanger sequencing confirmed a compound heterozygous mutation in the Immunoglobulin Mu Binding Protein 2 (IGHMBP2) gene, with a known mutation c...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29759035/a-novel-missense-mutation-in-slc5a5-gene-in-a-sudanese-family-with-congenital-hypothyroidism
#15
Yui Watanabe, Reham Shareef Ebrhim, Mohamed A Abdullah, Roy E Weiss
Thyroid hormone synthesis requires the presence of iodide. The sodium iodide symporter (NIS) is a glycoprotein which mediates the active uptake of iodide from the blood stream into the thyroid grand. NIS defects due to SLC5A5 gene mutations are known to cause congenital hypothyroidism (CH). The proposita is a 28-year-old female whose origin is the North Sudan where neonatal screening for CH is not available. She presented with severe constipation and a goiter at the age of 40 days. Laboratory testing confirmed CH and she was started on levothyroxine (L-T4)...
May 15, 2018: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29755326/transient-hypothyroidism-during-lactation-arrests-myelination-in-the-anterior-commissure-of-rats-a-magnetic-resonance-image-and-electron-microscope-study
#16
Federico S Lucia, Jesús Pacheco-Torres, Susana González-Granero, Santiago Canals, María-Jesús Obregón, José M García-Verdugo, Pere Berbel
Thyroid hormone deficiency at early postnatal ages affects the cytoarchitecture and function of neocortical and telencephalic limbic areas, leading to impaired associative memory and in a wide spectrum of neurological and mental diseases. Neocortical areas project interhemispheric axons mostly through the corpus callosum and to a lesser extent through the anterior commissure (AC), while limbic areas mostly project through the AC and hippocampal commissures. Functional magnetic resonance data from children with late diagnosed congenital hypothyroidism and abnormal verbal memory processing, suggest altered ipsilateral and contralateral telencephalic connections...
2018: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/29750648/current-status-of-the-congenital-hypothyroidism-neonatal-screening-program-in-adana-province-turkey
#17
Yılmaz Kor, Deniz Kor
BACKGROUND: Congenital hypothyroidism (CH) is a common cause of mental retardation; it has a worldwide incidence ranging from 1:3000 to 1:4500 live births. Predictably, an increase in the reported incidence of primary CH occurs when the cut-off levels of thyroid-stimulating hormone are lowered. We aimed to evaluate the results of a congenital hypothyroidism screening program and current status in this study. METHODS: Analysis results of 1300 infants who were referred to the endocrinology polyclinic because of suspected CH within the scope of the Ministry of Health National Neonatal Screening Program were retrospectively evaluated...
May 11, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29750647/the-etiologies-and-incidences-of-congenital-hypothyroidism-before-and-after-neonatal-tsh-screening-program-implementation-a-study-in-southern-thailand
#18
Somchit Jaruratanasirikul, Jutarat Piriyaphan, Tansit Saengkaew, Waricha Janjindamai, Hutcha Sriplung
BACKGROUND: Congenital hypothyroidism (CH) is one of the common causes of intellectual disability which can be prevented by early detection of an elevated thyroid stimulating hormone (TSH) level in the newborn and by treatment with thyroxine. In Thailand, neonatal TSH screening was implemented nationwide in 2005. The objective of the study was to determine the etiologies and the estimated incidences of CH in southern Thailand before and after the implementation of a neonatal TSH screening program in 2005...
May 11, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29739340/mutation-analysis-of-slc26a4-pendrin-gene-in-a-brazilian-sample-of-hearing-impaired-subjects
#19
Renata Watanabe Nonose, Karina Lezirovitz, Maria Teresa Balester de Mello Auricchio, Ana Carla Batissoco, Guilherme Lopes Yamamoto, Regina Célia Mingroni-Netto
BACKGROUND: Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be associated with abnormalities of the inner ear, such as dilatation of the vestibular aqueduct or Mondini dysplasia. But, in Pendred syndrome (OMIM #274600), with autosomal recessive inheritance, besides congenital sensorineural deafness, goiter or thyroid dysfunctions are frequently present...
May 8, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29737268/evaluation-and-management-of-the-child-with-hypothyroidism
#20
Alexander A C Leung, Alexander K C Leung
BACKGROUND: Thyroid hormones are critical for early neurocognitive development as well as growth and development throughout childhood. Prompt recognition and treatment of hypothyroidism is therefore of utmost importance to optimize physical and neurodevelopmental outcomes. OBJECTIVE: To review in depth the evaluation, diagnosis, and treatment of hypothyroidism in children. METHODS: A PubMed search was completed in Clinical Queries using the key term "hypothyroidism"...
May 8, 2018: Recent Patents on Endocrine, Metabolic & Immune Drug Discovery
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