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"Congenital hypothyroidism"

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https://www.readbyqxmd.com/read/27906195/congenital-hypothyroidism-with-delayed-thyroid-stimulating-hormone-elevation-in-premature-infants-born-at-less-than-30-weeks-gestation
#1
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
#2
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 thyroid-stimulating hormone (TSH) levels among small-for-gestational-age (SGA) and appropriate-for-gestational-age (AGA) newborns. The hypothesis of our study was that SGA preterm infants have higher TSH levels than those who are not underweight. METHODS: This cross-sectional study analysed the TSH levels of all preterm newborns with a negative congenital hypothyroidism screening result (TSH<7...
November 30, 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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
Federica Marelli, Silvia Carra, Giuditta Rurale, Franco Cotelli, Luca Persani
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 T3/T4 ratio and normal TSH levels. We 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. In this study we expressed several human TRα variants in zebrafish embryos and analyzed the resulting phenotypes...
November 3, 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27793676/hormonal-and-testicular-changes-in-rats-submitted-to-congenital-hypothyroidism-in-early-life
#10
Veronica Aiceles, Flavia Gombar, Cristiane da Fonte Ramos
The goal of this study was to evaluate the influence of hypothyroidism induced by MMI, during gestation (G) or gestation plus lactation (GL) on testis and its relation with leptin in rats. Six to eight pups were killed at 90 days of age. For statistical analysis One-way ANOVA followed by the Holm-Sìdak post hoc test was used. Hypothyroidism resulted in a significant reduction in LH, FSH and testosterone and an increase in leptin serum levels (p < 0.04). There was a significant decrease in StAR, AR, FSHR, LHR, pSTAT3 and SOCS3 (p < 0...
October 25, 2016: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/27777909/a-baby-with-congenital-hypothyroidism-born-to-a-hypothyroid-mother-who-expressed-undiagnosed-thyroid-stimulation-blocking-antibody
#11
Mock Ryeon Kim, Hye Won Park, Sochung Chung
In adults, hypothyroidism caused by thyroid stimulation blocking antibody (TSB Ab) is rare, and confirmed cases are even fewer, as TSB Ab levels are rarely assayed. However, this may create problems in babies, as the transplacental passage of maternal TSB Ab can cause a rare type of hypothyroidism in the infant. Prompt levothyroxine replacement for the baby starting immediately after birth is important. We describe a congenital hypothyroid baby born to a hypothyroid mother who was not aware of the cause of her hypothyroid condition, which turned out to be associated with the expression of TSB Ab...
September 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27743030/thyroid-function-testing-in-neonates-born-to-women-with-hypothyroidism
#12
Matthew McGovern, Zahra Reyani, Pamela O'Connor, Martin White, Jan Miletin
: Our aim was to assess the utility of serum thyroxine and thyroid stimulating hormone performed at 10-14 days of life in diagnosing congenital hypothyroidism (CH) in babies born to mothers with hypothyroidism. This was a retrospective study of all babies born in a tertiary referral centre for neonatology over a 12-month period. Infants who had thyroid function testing (TFT) checked at 10-14 days of life because of maternal hypothyroidism during the period of study were included. The results of the newborn bloodspot and day 10-14 TFT were recorded along with whether or not patients were subsequently treated...
October 14, 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/27737329/coexistence-of-resistance-to-thyroid-hormone-and-ectopic-thyroid-ten-year-follow-up
#13
Man-Li Guo, Xiao Zheng, Liu-Xue Yang, Ya-Li Qiu, Liang Cheng, Shao-Gang Ma
Resistance to thyroid hormone (RTH) coexisting with ectopic thyroid is rare. Here we report a case of RTH with ectopic thyroid. A ten-year-old girl had been misdiagnosed as congenital hypothyroidism and treated with levothyroxine since she was born. Ten-year follow-up showed that the elevated thyrotropin was never suppressed by levothyroxine and no signs indicating hyperthyroidism or hypothyroidism despite elevated FT3 and FT4 levels. Therefore the girl developed no defects in physical and cognitive development...
October 10, 2016: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27734701/-solution-of-iodine-deficiency-in-the-czech-republic-history-and-current-situation20-years-of-work-of-prof-v%C3%A3-clav-zamrazil-for-commission-for-the-solution-of-iodine-deficiency
#14
Lydie Ryšavá, Jaroslav Kříž
Diseases caused by Iodine deficit are preventable. Inter resort Commission for the solution of Iodine deficiency (MKJD) at State Institute for Health (SZU) in Prague has been taking effective measures which satisfied requirements of the Principles for sustainable elimination of diseases caused by Iodine deficiency ICCD WHO: 96 % of households is using iodized salt, average Iodine content is 25 mg/1 kg of salt. Data from studies show ioduria less 100 mcg/l in only 9 per cent of seniors, 5 % of children 7-10 years, 3 % of children 10-12 years...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27726750/imaging-findings-of-metabolic-bone-disease
#15
Connie Y Chang, Daniel I Rosenthal, Deborah M Mitchell, Atsuhiko Handa, Susan V Kattapuram, Ambrose J Huang
Metabolic bone diseases are a diverse group of diseases that result in abnormalities of (a) bone mass, (b) structure mineral homeostasis, (c) bone turnover, or (d) growth. Osteoporosis, the most common metabolic bone disease, results in generalized loss of bone mass and deterioration in the bone microarchitecture. Impaired chondrocyte development and failure to mineralize growth plate cartilage in rickets lead to widened growth plates and frayed metaphyses at sites of greatest growth. Osteomalacia is the result of impaired mineralization of newly formed osteoid, which leads to characteristic Looser zones...
October 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27703483/the-association-of-pseudohypoparathyroidism-type-ia-with-chiari-malformation-type-i-a-coincidence-or-a-common-link
#16
Paria Kashani, Madan Roy, Linda Gillis, Olufemi Ajani, M Constantine Samaan
A 19-month-old boy was referred for progressive weight gain. His past medical history included congenital hypothyroidism and developmental delay. Physical examination revealed characteristics of Albright Hereditary Osteodystrophy, macrocephaly, and calcinosis cutis. He had hypocalcemia, hyperphosphatemia, and elevated Parathyroid Hormone levels. Genetic testing revealed a known mutation of GNAS gene, confirming the diagnosis of Pseudohypoparathyroidism Type Ia (PHP-Ia) (c.34C>T (p.G1n12X)). He had a normal brain MRI at three months, but developmental delay prompted a repeat MRI that revealed Chiari Malformation Type I (CM-I) with hydrocephalus requiring neurosurgical intervention...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27696498/evaluation-of-the-revised-new-zealand-national-newborn-screening-protocol-for-congenital-hypothyroidism
#17
Natasha L Heather, Paul L Hofman, Mark de Hora, Joan Carll, José G B Derraik, Dianne Webster
OBJECTIVE: The aim of this study was to assess the performance of the revised New Zealand (NZ) newborn screening TSH cut-offs for congenital hypothyroidism (CHT). METHODS: Screening data over 24 months were obtained from the NZ newborn metabolic screening programme, which utilizes a 2-tier system of direct clinical referral for infants with markedly elevated TSH, and second samples from those with mild TSH elevation. We evaluated the impact of a reduced TSH threshold (50 to 30 mIU/l blood) for direct notification and a lower cut-off (15 to 8 mIU/l blood) applied to second samples and babies older than 14 days...
October 3, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27639769/nationwide-evaluation-of-congenital-hypothyroidism-screening-during-neonatal-extracorporeal-membrane-oxygenation
#18
Lisette Leeuwen, Arno F J van Heijst, Sanne Vijfhuize, Leonardus W J E Beurskens, Gert Weijman, Dick Tibboel, Erica L T van den Akker, Hanneke IJsselstijn
BACKGROUND: Thyroid hormone concentrations may deviate from normal values during critical illness. This condition is known as nonthyroidal illness syndrome (NTIS), and it can influence the results of screening for congenital hypothyroidism (CH) during neonatal extracorporeal membrane oxygenation (ECMO). OBJECTIVES: To determine the incidence of aberrant CH screening results in ECMO-treated neonates, to identify possible determinants, and to follow up patients with abnormal thyroid hormone concentrations...
September 17, 2016: Neonatology
https://www.readbyqxmd.com/read/27637299/next-generation-sequencing-analysis-of-tshr-in-384-chinese-subclinical-congenital-hypothyroidism-ch-and-ch-patients
#19
Chunyun Fu, Jin Wang, Shiyu Luo, Qi Yang, Qifei Li, Haiyang Zheng, Xuyun Hu, Jiasun Su, Shujie Zhang, Rongyu Chen, Jingsi Luo, Yue Zhang, Yiping Shen, Hongwei Wei, Dahua Meng, Baoheng Gui, Zhangqin Zeng, Xin Fan, Shaoke Chen
BACKGROUND: Defects in the human TSHR gene are reported to be one of the causes of CH due to thyroid dysgenesis, the purpose of this study was to examine the TSHR mutation spectrum and prevalence in congenital hypothyroidism (CH) and subclinical congenital hypothyroidism (SCH) patients in the Guangxi Zhuang Autonomous Region of China and to evaluate the genotype-phenotype correlations. METHODS: Blood samples were collected from 384 patients including 240 CH and 144 SCH patients in Guangxi, China...
November 1, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27617131/a-homozygous-tpo-gene-duplication-c-1184_1187dup4-causes-congenital-hypothyroidism-in-three-siblings-born-to-a-consanguineous-family
#20
Hakan Cangul, Banu K Aydin, Firdevs Bas
Congenital hypothyroidism (CH) is the most common neonatal endocrine disease, and germ-line mutations in the TPO gene cause the inherited form of the disease. Our aim in this study was to determine the genetic basis of congenital hypothyroidism in three affected children coming from a consanguineous Turkish family. Because CH is usually inherited in autosomal recessive manner in consanguineous/multicase families, we adopted a two-stage strategy of genetic linkage studies and targeted sequencing of the candidate genes...
December 2015: Journal of Pediatric Genetics
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