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congenital hypothyroidism

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https://www.readbyqxmd.com/read/28811156/screening-of-congenital-hypothyroidism-in-preterm-low-birth-weight-and-very-low-birth-weight-neonates-a-systematic-review
#1
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-tsh-measurement
#2
Allison M Butler, Wiyada Charoensiriwatana, Piamnukul Krasao, Rotjanapan Pankanjanato, Penpan Thong-Ngao, Randall C Polson, Gregory L Snow, Joel Ehrenkranz
BACKGROUND: Measuring thyroid stimulating hormone (TSH) eluted from a dried blood spot (DBS) is used to screen an estimated 30 million newborns annually for congenital hypothyroidism. Newborn thyroid screening has eliminated cretinism from the industrialized world and decreased the adverse effects of unrecognized congenital hypothyroidism 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...
August 16, 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
#3
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 15, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28807719/maternal-hypothyroidism-an-overview-of-current-experimental-models
#4
REVIEW
Mahboubeh Ghanbari, Asghar Ghasemi
Maternal hypothyroidism (MH) is the most common cause of transient congenital hypothyroidism. Different animal models are used for assessing developmental effects of MH in offspring. The severity and status of hypothyroidism in animal models must be a reflection of the actual conditions in humans. To obtain comparable results with different clinical conditions, which lead to MH in humans, several factors have been suggested for researchers to consider before designing the experimental models. Regarding development of fetal body systems during pregnancy, interference at different times provides different results and the appropriate time for induction of hypothyroidism should be selected based on accurate time of development of the system under assessment...
August 11, 2017: Life Sciences
https://www.readbyqxmd.com/read/28805616/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-16
#5
Chih-Ping Chen, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 16. CASE REPORT: A 28-year-old woman underwent amniocentesis at 17 weeks of gestation because of abnormal maternal serum screening for Down syndrome. Amniocentesis revealed a karyotype of 47,XY,+mar[5]/46,XY[9]. Parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) analysis of cultured amniocytes revealed a de novo 16% gene dosage increase of 16q11...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28799288/neuroprotective-activity-of-cannabinoid-receptor-2-against-oxidative-stress-and-apoptosis-in-rat-pups-having-experimentally-induced-congenital-hypothyroidism
#6
Mehmet Eray Alcigir, Halef Okan Dogan, Sevil Atalay Vural, Fatma Meriç Yilmaz
In this study, it was aimed to show the cannabinoid receptor-2 (CB2) role, which is a part of neuroprotective endocannabinoidal system, against increasing nitric oxide synthetase (iNOS, eNOS) levels and the apoptotic activity (caspase-3, caspase-9 and DNA in situ fragmentation) within the postnatal critical period in pups of pregnant rats with artificially induced maternal thyroid hormone (TH) deficiency. Each of the 3 groups established comprised 1 male and 2 female rats, and they were coupled. Their pups were used...
August 11, 2017: Developmental Neurobiology
https://www.readbyqxmd.com/read/28763301/application-of-povidone-iodine-at-delivery-significantly-increases-maternal-urinary-iodine-but-not-neonatal-thyrotropin-in-an-area-with-iodine-sufficiency
#7
Majid Valizadeh, Pantea Nazeri, Farzaneh Fazli, Farnaz Mohammadian, Sadreddin Kalantari, Koorosh Kamali, Hesam Osali
BACKGROUND: The aim of the present study was to investigate the effect of povidone-iodine (PVP-I) application at delivery on maternal urinary iodine concentration (UIC) and neonatal thyrotropin concentration. METHODS: In this cross-sectional study, urine samples were collected from each pregnant woman after admission to the hospital and before routine application of the PVP-I for delivery preparation and after delivery at time of screening for congenital hypothyroidism...
August 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28749785/mutation-analysis-of-the-nkx2-5-gene-in-iranian-pediatric-patients-with-congenital-hypothyroidism
#8
Mehri Khatami, Mohammad Mehdi Heidari, Fatemeh Tabesh, Mahtab Ordooei, Zohreh Salehifar
BACKGROUND: The embryonic development of the thyroid gland is regulated by the expression of several candidate genes which are related to congenital hypothyroidism. These genes include the numerous critical thyroid transcription factors such as NKX2.1, NKX2.5, FOXE1, and PAX8. The molecular analysis of these loci will be essential to the explanation of the participation of these transcription activators in the etiology of hypothyroidism. Among them, the role of NKX2.5 is important during the early thyroid morphogenesis and in controlling thyroidal cell differentiation and migration...
August 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28747839/etiological-evaluation-of-primary-congenital-hypothyroidism-cases
#9
Diğdem Bezen, Emine Dilek, Neşe Torun, Filiz Tütüncüler
AIM: Primary congenital hypothyroidism is frequently seen endocrine disorder and one of the preventable cause of mental retardation. Aim of study was to evaluate the frequency of permanent/transient hypothyrodism, and to detect underlying reason to identfy any marker which carries potential to discriminate permanent/transient form. MATERIAL AND METHODS: Forty eight cases older than 3 years of age, diagnosed as primary congenital hypothyroidism and started thyroxin therapy in newborn-period, and followed up between January 2007-June 2013 were included in the study...
June 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28738186/neonatal-screening-9-of-children-with-filter-paper-blood-spot-tsh-levels-between-5-and-10%C3%AE-iu-ml-have-congenital-hypothyroidism
#10
Flávia C Christensen-Adad, Carolina T Mendes-Dos-Santos, Maura M F Goto, Letícia E Sewaybricker, Lília F R D'Souza-Li, Gil Guerra-Junior, André M Morcillo, Sofia Helena V Lemos-Marini
OBJECTIVES: To determine the prevalence of congenital hypothyroidism in children with filter-paper blood-spot TSH (b-TSH) between 5 and 10μIU/mL in the neonatal screening. METHODS: This was a retrospective study including children screened from 2003 to 2010, with b-TSH levels between 5 and 10μIU/mL, who were followed-up during the first two years of life when there was no serum TSH normalization. The diagnosis of congenital hypothyroidism was defined as serum TSH ≥10μIU/mL and start of levothyroxine treatment up to 2 years of age...
July 21, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28729012/evidence-that-children-born-at-early-term-37-38-6-7-weeks-are-at-increased-risk-for-diabetes-and-obesity-related-disorders
#11
Dorit Paz Levy, Eyal Sheiner, Tamar Wainstock, Ruslan Sergienko, Daniella Landau, Asnat Walfisch
BACKGROUND: Prematurity is known to be associated with high rates of endocrine and metabolic complications in the offspring. Offspring born early term (37-38 6/7 weeks' gestation) were also shown to exhibit long-term morbidity resembling that of late preterm, in several health categories. OBJECTIVE: We aimed to determine whether early term delivery impacts on the long-term endocrine and metabolic health of the offspring. STUDY DESIGN: A population-based cohort analysis was performed, including all term singleton deliveries occurring from 1991 through 2013 at a single regional tertiary medical center...
July 18, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28724436/expanding-the-phenotype-of-reciprocal-1q21-1-deletions-and-duplications-a-case-series
#12
Martina Busè, Helenia C Cuttaia, Daniela Palazzo, Marcella V Mazara, Salvatrice A Lauricella, Michela Malacarne, Mauro Pierluigi, Simona Cavani, Maria Piccione
BACKGROUND: Recurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association with 1q21.1 microdeletions include developmental delay, craniofacial dysmorphism and congenital anomalies. The 1q21.1 reciprocal duplication has been associated with macrocephaly or relative macrocephaly, frontal bossing, hypertelorism, developmental delay, intellectual disability and autism spectrum disorder. METHODS: Our study describes seven patients, who were referred to us for developmental delay/intellectual disability, dysmorphic features and, in some cases, congenital anomalies, in whom we identified 1q21...
July 19, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28718179/genetic-alterations-in-pendrin-slc26a4-gene-in-adult-hypothyroid-patients
#13
Sourav Mukherjee, Manalee Guha, Bidisha Adhikary, Biswabandhu Bankura, Pubali Mitra, Subhankar Chowdhury, Madhusudan Das
Current study was aimed to screen the SLC26A4 gene in 127 nonautoimmune and noncongenital hypothyroid patients, who were under optimal iodine nutrition and devoid of any characteristics of Pendred syndrome from eastern part of Indian population. 8 single nucleotide variants/mutations were identified in heterozygous state in 20% patient population, which include 1 novel nonsynonymous (p.C18S), 1 novel intronic (g.942C>A), 3 known nonsynonymous (p.S23X, p.V239D, and p.I455F), and 3 known intronic (g.23034G>T, g...
July 17, 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/28706256/an-extremely-high-dietary-iodide-supply-forestalls-severe-hypothyroidism-in-na-i-symporter-nis-knockout-mice
#14
Giuseppe Ferrandino, Rachel R Kaspari, Andrea Reyna-Neyra, Nabil E Boutagy, Albert J Sinusas, Nancy Carrasco
The sodium/iodide symporter (NIS) mediates active iodide (I(-)) accumulation in the thyroid, the first step in thyroid hormone (TH) biosynthesis. Mutations in the SLC5A5 gene encoding NIS that result in a non-functional protein lead to congenital hypothyroidism due to I(-) transport defect (ITD). ITD is a rare autosomal disorder that, if not treated promptly in infancy, can cause mental retardation, as the TH decrease results in improper development of the nervous system. However, in some patients, hypothyroidism has been ameliorated by unusually large amounts of dietary I(-)...
July 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28697824/-analysis-of-treatment-efficacy-for-congenital-hypothyroidism-in-some-regions-of-yunnan-province-china
#15
Jing-Hui Yang, Jing-Hui Zhang, Yin-Hong Zhang, Xiao-Zhi Xu, Hong Chen, Yuan Li, Yan Jiang, Zheng Wang, Bao-Sheng Zhu, Li Li
OBJECTIVE: To observe the effects of initial doses and treatment timing of levothyroxine (L-T4) on the clinical efficacy in children with congenital hypothyroidism (CH). METHODS: This study included 98 children who had an abnormal level of thyroid stimulating hormone (TSH) in neonatal screening in four regions of Yunnan Province and who finally had a confirmed diagnosis of CH. They received treatment with L-T4 and were divided into standard dose group (10-15 μg/kg per day) and low dose group (<10 μg/kg per day) by the therapeutic dose of L-T4...
July 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28694389/are-lower-tsh-cutoffs-in-neonatal-screening-for-congenital-hypothyroidism-warranted-a-debate
#16
Samantha Lain, Caroline Trumpff, Scott D Grosse, Antonella Olivieri, Guy Van Vliet
When newborn screening (NBS) for congenital hypothyroidism (CH) using thyroid stimulating hormone (TSH) as a primary screening test was introduced, typical TSH screening cutoffs were 20 to 50 mU/L of whole blood. Over the years, lowering of TSH cutoffs has contributed to an increased prevalence of detected CH. However, a consensus on the benefit deriving from lowering TSH cutoffs at screening is lacking. The present paper outlines arguments both for and against the lowering of TSH cutoffs at NBS. It includes a review of recently published evidence from Australia, Belgium, and Italy...
July 10, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28690990/predictors-of-transient-congenital-hypothyroidism-in-children-with-eutopic-thyroid-gland
#17
Il Soon Park, Jong Seo Yoon, Cheol Hwan So, Hae Sang Lee, Jin Soon Hwang
PURPOSE: Congenital hypothyroidism (CH) is the most common cause of preventable mental retardation. Recently, the detection of CH cases with eutopic thyroid gland has increased due to neonatal screening programs. In this study, we aimed to identify and evaluate predictive factors that could distinguish between permanent and transient CH in patients with eutopic thyroid gland. METHODS: We retrospectively reviewed 100 children diagnosed with CH and with eutopic thyroid gland...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28690988/intellectual-development-in-preschool-children-with-early-treated-congenital-hypothyroidism
#18
Min Kyoung Seo, Jong Seo Yoon, Chul Hwan So, Hae Sang Lee, Jin Soon Hwang
PURPOSE: Delayed treatment of congenital hypothyroidism (CH) is a common cause of mental retardation. The aim of the present study was to evaluate intellectual outcomes in preschool children with treated CH. METHODS: We retrospectively reviewed the clinical records of 43 children (age range: 13 to 60 days of life; 22 girls and 21 boys) diagnosed with CH. Children aged 5 to 7 years were examined using the Korean Wechsler Intelligence Scale for Children or the Korean Wechsler Preschool and Primary Scale of Intelligence...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28687188/-oral-and-dental-expression-of-thyroid-diseases
#19
Jean-Louis Wémeau, Christine Do Cao, Miriam Ladsous
Oral disorders were observed in children with congenital hypothyroidism, lately apparent because of difficulties of feeding, swallowing disorders, and macroglossia. Macroglossia was also a component of the severe acquired myxedema, particularly observed in hypothyroidism related to autoimmune atrophic thyroiditis beyond menopause. Lingual ectopy in children and adults could determine respiratory gene or swallowing difficulties, and were detectable by visual examination and the endobuccal touch. Expression of these events was completely minimized since the neonatal screening of congenital hypothyroidism, also by the common practice in adults of serum TSH determinations...
July 4, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28683242/targeted-levothyroxine-therapy-for-treatment-of-congenital-hypothyroidism
#20
Melissa J Schoelwer, Wanzhu Tu, Junyi Zhou, Erica A Eugster
OBJECTIVE: The purpose of this study was to determine if infants with congenital hypothyroidism (CH) whose initial dose of levothyroxine (LT4) is based on thyroid gland anatomy require fewer dose adjustments in the first six months of life than those who were started empirically on LT4. METHODS: Newborns with CH who had a thyroid ultrasound performed at diagnosis were eligible for this prospective, historical case-controlled study. The daily LT4 dose prescribed was based on results on the thyroid ultrasound as follows: 15 mcg/kg for athyreosis, 12 mcg/kg for a dysgenetic thyroid, and 10 mcg/kg for an anatomically normal gland...
July 6, 2017: Endocrine Practice
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