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"Congenital hypothyroidism"

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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
#1
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
#2
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
#3
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...
1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28070054/-van-wyk-grumbach-syndrome-a-case-report-and-%C3%A2-literature-review
#4
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
https://www.readbyqxmd.com/read/28060725/identification-and-characterization-of-novel-pax8-mutations-in-congenital-hypothyroidism-ch-in-a-chinese-population
#5
Shiguo Liu, Xueqin Wang, Hui Zou, Yinlin Ge, Fang Wang, Yangang Wang, Shengli Yan, Hongfei Xia, Mingzhao Xing
OBJECTIVE: Based on mutations in PAX8 is associated with thyroid dysgenesis. We aim to identify and characterize PAX8 mutations in a large cohort of congenital hypothyroidism(CH) from thyroid dysgenesis in Chinese population. METHODS: We screened 453 unrelated Chinese patients with CH from thyroid dysgenesis for PAX8 mutations by sequencing the whole coding regions of PAX8 on genomic DNA isolated from blood. Cell transfection assays using various vector constructs and induced mutagenesis as well as electrophoretic mobility shift assays were used to investigate the effects of selected mutations on the transcribing and binding activities of PAX8 at the promoters of target genes for thyroglobulin (TG) and thyroperoxidase (TPO)...
January 2, 2017: Oncotarget
https://www.readbyqxmd.com/read/28025328/mutations-in-borealin-cause-thyroid-dysgenesis
#6
Aurore Carré, Athanasia Stoupa, Dulanjalee Karyiawasam, Manelle Gueriouz, Cyrille Ramond, Taylor Monus, Juliane Léger, Sébastien Gaujoux, Frédéric Sebag, Nicolas Glaser, Delphine Zenaty, Patrick Nitschke, Christine Bole-Feysot, Laurence Hubert, Stanislas Lyonnet, Raphaël Scharfmann, Arnold Munnich, Claude Besmond, William Taylor, Michel Polak
Congenital hypothyroidism is the most common neonatal endocrine disorder and is primarily caused by developmental abnormalities otherwise known as thyroid dysgenesis (TD). We performed whole exome sequencing (WES) in a consanguineous family with TD and subsequently sequenced a cohort of 134 probands with TD to identify genetic factors predisposing to the disease. We identified the novel missense mutations p.S148F, p.R114Q and p.L177W in the BOREALIN gene in TD-affected families. Borealin is a major component of the Chromosomal Passenger Complex (CPC) with well-known functions in mitosis...
December 26, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28024960/detecting-congenital-hypothyroidism-with-newborn-screening-the-relevance-of-tsh-cutoff-values
#7
Stela Maris Silvestrin, Claudio Leone, Cléa Rodrigues Leone
OBJECTIVES: To assess the prevalence of congenital hypothyroidism and the ability of various neonatal thyroid-stimulating hormone (TSHneo) cutoff values to detect this disease. METHODS: This cohort study was based on the retrospective collection of information available from the Reference Service for Newborn Screening database for all live births from January 1, 2010, to December 31, 2012, assessed using the Newborn Screening Program of a Brazilian state. The infants were divided into two groups: I - Control: infants with normal newborn screening tests and II - Study: infants with congenital hypothyroidism...
December 23, 2016: Jornal de Pediatria
https://www.readbyqxmd.com/read/27994903/congenital-hypothyroidism-an-unusual-combination-of-biochemical-abnormalities
#8
Ruchi Mantri, S B Bavdekar, Sushma U Save
A forty-five-day-old female infant presented with prolonged jaundice with clinical features suggestive of congenital hypothyroidism (CHT). On investigations, the infant was noted to have indirect hyperbilirubinemia (13.8 mg/dl) with increased levels of AST (298 IU/dl) and ALT (174 IU/dl) in the serum. The child had low levels of free T3 (<1 pg/ml) and free T4 (0.4 ng/dl) secondary to thyroid agenesis detected on radionuclide scan and ultrasonography of the neck and raised levels of TSH (>500 microIU/ml) in the serum...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27994873/submental-thyroid-ectopy-might-cause-subclinical-hypothyroidism-in-early-childhood
#9
Mirjana Kocova, Nikolina Zdraveska, Maja Zdravkovska, Violeta Anastasovska, Daniela Pop Gjorceva
OBJECTIVE: Thyroid ectopy is a rare condition resulting from abnormal embryologic development and migration of the gland. Sublingual is the most common thyroid ectopy; all other ectopic thyroid locations occur very rare. There are no reports in the literature that describe the clinical course of patients with congenital hypothyroidism due to thyroid ectopy. METHODS AND RESULTS: We present a child with congenital hypothyroidism detected on neonatal screening which had a subclinical course during follow-up...
2016: SAGE open medical case reports
https://www.readbyqxmd.com/read/27942261/congenital-hypothyroidism-optimal-initial-dosage-and-time-of-initiation-of-treatment-a-systematic-review
#10
REVIEW
Khaled Rahmani, Shahin Yarahmadi, Koorosh Etemad, Ahmad Koosha, Yadollah Mehrabi, Nasrin Aghang, Hamid Soori
CONTEXT: Appropriate management of neonates, tested positive for congenital hypothyroidism (CH), in particular, the initial dosage of levothyroxine and the time of initiation of treatment is a critical issue. The aim of this study was to assess all current evidence available on the subject to ascertain the optimal initial dose and optimal initiation time of treatment for children with CH. EVIDENCE ACQUISITION: In this study, all published research related to the initiation treatment dose and the onset time of treatment in congenital hypothyroidism were reviewed...
July 2016: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27941171/the-role-of-season-and-climate-in-the-incidence-of-congenital-hypothyroidism-in-kerman-province-southeastern-iran
#11
Narges Khanjani, Ahmad Ahmadzadeh, Bahram Bakhtiari, Farzan Madadizadeh
BACKGROUND: Congenital hypothyroidism (CH) is a common endocrine disease and an important cause of mental retardation. The purpose of this study was to investigate the probable role of season and climatic factors in the incidence of CH in Kerman province, Iran. METHODS: Incidence data were collected from the CH screening program files from 2005 to 2011 in Kerman province, a number of 288,437 infants were included in the study. Climate data were collected from the Meteorological Office...
December 10, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27906195/congenital-hypothyroidism-with-delayed-thyroid-stimulating-hormone-elevation-in-premature-infants-born-at-less-than-30-weeks-gestation
#12
D C Kaluarachchi, T T Colaizy, L M Pesce, M Tansey, J M Klein
OBJECTIVE: Congenital hypothyroidism (CH) with delayed thyroid-stimulating hormone (TSH) elevation is a common form of thyroid dysfunction among premature infants. Routine newborn screening (NBS) may miss infants with CH with delayed TSH elevation. The objective of the study is to determine the prevalence of CH with delayed TSH elevation in premature infants and to identify associated risk factors. STUDY DESIGN: Retrospective analysis of serum thyroid function screening (TFS) at day of life 30 in premature infants <30 weeks gestation, admitted to University of Iowa Neonatal Intensive Care Unit between 1 July 2012 to 30 June 2015...
December 1, 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/27901447/multivariate-analysis-of-thyrotropin-in-preterm-newborns-based-on-adequacy-of-weight-for-gestational-age
#13
Vicente María Bosch-Giménez, Antonio Palazón-Bru, Álvaro Blasco-Barbero, Mercedes Juste-Ruiz, María Mercedes Rizo-Baeza, Ernesto Cortés-Castell
BACKGROUND: Different and conflicting data have been published concerning thyrotropin (TSH) levels among small-for-gestational-age (SGA) and appropriate-for-gestational-age (AGA) newborns. The hypothesis of this study was that SGA preterm infants have higher TSH levels than those who are not underweight do. METHODS: This cross-sectional study analyzed the TSH levels of all preterm newborns with a negative congenital hypothyroidism screening result (TSH <7.5 μIU/mL)...
December 15, 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27899417/emerging-roles-of-glis3-in-neonatal-diabetes-type-1-and-type-2-diabetes
#14
Xianjie Wen, Yisheng Yang
GLI-similar 3 (GLIS3), a member of the Krüppel-like zinc finger protein subfamily, is predominantly expressed in the pancreas, thyroid, and kidney. Glis3 mRNA can be initially detected in mouse pancreas at embryonic day 11.5 and is largely restricted to β cells, pancreatic polypeptide-expressing cells, as well as ductal cells at later stage of pancreas development. Mutations in GLIS3 cause a neonatal diabetes syndrome, characterized by neonatal diabetes, congenital hypothyroidism, and polycystic kidney. Importantly, genome-wide association studies showed that variations of GLIS3 are strongly associated with both type 1 diabetes (T1D) and type 2 diabetes (T2D) in multiple populations...
November 29, 2016: Journal of Molecular Endocrinology
https://www.readbyqxmd.com/read/27867886/genotype-phenotype-correlations-of-dyshormonogenetic-goiter-in-children-and-adolescents-from-south-india
#15
Bangaraiah Gari Ramesh, Panchangam Ramakanth Bhargav, Bangaraiah Gari Rajesh, Nangedda Vimala Devi, Rajagopalan Vijayaraghavan, Bhongir Aparna Varma
BACKGROUND: Dyshormonogenetic goiter is one of the most common causes of hypothyroidism in children and adolescents in iodine nonendemic areas. The exact genotype-phenotypic correlations (GPCs) and risk categorization of hypothyroid phenotypes of dyshormonogenetic mutations are largely speculative. The genetic studies in pediatric dyshormonogenesis are very sparse from Indian sub-continent. In this context, we analyzed the implications of TPO, NIS, and DUOX2 gene mutations in hypothyroid children with dyshormonogenetic hypothyroidism (DH) from South India...
November 2016: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27862717/prenatal-diagnosis-and-successful-intrauterine-treatment-of-severe-congenital-hypothyroidism-associated-with-fetal-goiter
#16
Vladimír Ferianec, Peter Papcun, František Grochal, Katarína Schenková, Michaela Bártová
Congenital hypothyroidism with fetal goiter is a rare condition associated with severe, but possibly preventable, intrauterine and postnatal complications. Ultrasound examination after 20 weeks of pregnancy enables prenatal diagnosis and early treatment. Due to limited transplacental transport of thyroid hormones, direct intrauterine treatment is needed. So far, only a few reports of fetal goitrous hypothyroidism have been published and no consensus on adequate management exists. We present a case of severe fetal goitrous hypothyroidism diagnosed at 23 gestational weeks treated by sequential intra-amniotic administration of L-thyroxin...
November 12, 2016: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/27830119/the-first-mongolian-cases-of-phenylketonuria-in-selective-screening-of-inborn-errors-of-metabolism
#17
Jamiyan Purevsuren, Baasandai Bolormaa, Chogdon Narantsetseg, Renchindorj Batsolongo, Ochirbat Enkhchimeg, Munkhuu Bayalag, Yuki Hasegawa, Haruo Shintaku, SeijiYamaguchi
BACKGROUND: Inborn errors of metabolism (IEM) are rare genetic disorders in which a single gene defect causes a clinically significant block in a metabolic pathway. Clinical problems arise due to either accumulation of substrates that are toxic or interfere with normal function, or deficiency of the products that are used to synthesize essential compounds. There is no report of screening results or confirmed cases of IEM in Mongolia. Only pilot study of newborn screening for congenital hypothyroidism was implemented in Mongolia, where the incidence of congenital hypothyroidism is calculated to be 1:3057 in Mongolia...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27828692/congenital-hypothyroidism-polish-recommendations-for-therapy-treatment-monitoring-and-screening-tests-in-special-categories-of-neonates-with-increased-risk-of-hypothyroidism
#18
Anna Małgorzata Kucharska, Iwona Beń-Skowronek, Mieczysław Walczak, Mariusz Ołtarzewski, Mieczysław Szalecki, Teresa Jackowska, Andrzej Lewiński, Artur Bossowski
Proper treatment of congenital hypothyroidism warrants normal intellectual and physical development. This paper introduces the principles of treatment of congenital hypothyroidism, the recommended levothyroxine dosage, and the aims of therapy with its justification. The principles of treatment, specialist care of the patient, and methods used to evaluate therapeutic effects are described. Based on these data, recommendations concerning treatment and its monitoring in patients with congenital hypothyroidism are formulated...
2016: Endokrynologia Polska
https://www.readbyqxmd.com/read/27812608/evolution-to-permanent-or-transient-conditions-in-children-with-positive-neonatal-tsh-screening-tests-in-sergipe-brazil
#19
Diana M Matos, Roberto J R Ramalho, Bruno M Carvalho, Maria Augusta C T Almeida, Luciana F D Passos, Talmay T S Vasconcelos, Enaldo V Melo, Carla R P Oliveira, Elenilde G Santos, Karla F Resende, Manuel H Aguiar-Oliveira
Objectives: To assess the evolution to permanent or transient conditions in children with positive neonatal TSH tests in Sergipe, Brazil, from 2004 to 2010. Subjects and methods: Out of 193,794 screened newborns, 713 presented a neonatal TSH level higher than the local cutoff (5.2 µU/mL). From the confirmatory serum TSH values, the children were diagnosed with initial congenital hypothyroidism (CH) or suspect CH. From the evolution, they were classified as permanent CH, hyperthyrotropinemia, or transient TSH elevation...
October 2016: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27809680/in-vivo-functional-consequences-of-human-thra-variants-expressed-in-the-zebrafish
#20
Federica Marelli, Silvia Carra, Giuditta Rurale, Franco Cotelli, Luca Persani
BACKGROUND: Heterozygous mutations in the thyroid hormone receptor alpha (THRA) gene cause resistance to thyroid hormone alpha (RTHα), a disease characterized by variable manifestations reminiscent of untreated congenital hypothyroidism but a raised triiodothyronine/thyroxine ratio and normal thyrotropin levels. It was recently described that zebrafish embryos expressing a dominant negative (DN) form of thraa recapitulate the key features of RTHα, and that zebrafish and human receptors are functionally interchangeable...
December 9, 2016: Thyroid: Official Journal of the American Thyroid Association
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