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Hypothyroid congenital

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https://www.readbyqxmd.com/read/29213166/precocious-puberty-an-experience-from-a-major-teaching-hospital-in-central-saudi-arabia
#1
Huda A Osman, Nasir A M Al-Jurayyan, Amir M I Babiker, Hessah M N Al-Otaibi, Reem D H AlKhalifah, Sharifah D A Al Issa, Sarar Mohamed
Precocious puberty is a developmental process that gives rise to secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. In general, precocious puberty can be classified as central or peripheral. This is a retrospective hospital-based study was conducted at King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia, during the period January 1990 and December 2016. Data were abstracted from the medical records of patients diagnosed with precocious puberty, with special emphasis on age, sex, clinical characteristics, and relevant hormonal assay...
2017: Sudanese Journal of Paediatrics
https://www.readbyqxmd.com/read/29201074/worldwide-recall-rate-in-newborn-screening-programs-for-congenital-hypothyroidism
#2
REVIEW
Ladan Mehran, Davood Khalili, Shahin Yarahmadi, Atieh Amouzegar, Mehdi Mojarrad, Nasrin Ajang, Fereidoun Azizi
Context: Neonatal mass screening program for congenital hypothyroidism provides the best tool for prevention of its devastating effects on mental development. Despite the overall success of the screening programs in detecting congenital hypothyroidism and eliminating its sequelae and new developments made in the program design, high recall rate and false positive results impose a great challenge worldwide. Lower recall rate and false positive results may properly organize project expenses by reducing the unnecessary repeated laboratory tests, increase physicians and parents' assurance and cooperation, as well as reduce the psychological effects in families...
July 2017: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29197845/neck-mass-an-obstructive-cause-of-respiratory-distress-with-medical-management
#3
Vijay Singh, Aakash Pandita, Girish Gupta, Amit Shukla
Congenital goitre is a known cause of hypothyroidism in newborn. Congenital goitre can be due to defective synthesis of thyroxine or administration of antithyroid drugs to the mother during pregnancy. In this case report, we report an instance of a preterm male infant with antenatally detected goitre presenting as a neck mass with congenital hypothyroidism. Hormonal replacement therapy was started immediately after birth which lead to resolution of the mass and normalisation of thyroid function.
December 2, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29184815/transient-hypothyroidism-in-the-newborn-to-treat-or-not-to-treat
#4
REVIEW
Neelakanta Kanike, Ajuah Davis, Prem S Shekhawat
Transient congenital hypothyroidism (CH) refers to a temporary deficiency of thyroid hormone identified after birth, with low thyroxine (T4) and elevated thyrotropin (TSH), which later recovers to improved thyroxine production, typically in first few months of infancy. Approximately 17% to 40% of children diagnosed with CH by newborn screening (NBS) programs were later determined to have transient hypothyroidism. Causes of transient CH are prematurity, iodine deficiency, maternal thyrotropin receptor blocking antibodies, maternal intake of anti-thyroid drugs, maternal or neonatal iodine exposure, loss of function mutations and hepatic hemangiomas...
October 2017: Translational pediatrics
https://www.readbyqxmd.com/read/29184588/clinical-outcomes-of-high-risk-infant-follow-up-program-in-a-tertiary-care-centre
#5
Kayvan Mirnia, Forouzan Akrami, Behzad Jodeiry, Mohammad Heidarzadeh, Sima Safavinia
Background: High-risk infant follow-up (HRIF) program is necessary for early detection, timely intervention, and promotion of health outcomes in vulnerable infants, ethically. The present study was carried out to assess the clinical outcomes of the HRIF Program in Alzahra hospital as a tertiary care centre, in Iran. Materials and Methods: In this cohort study, 5840 neonates were born at Alzahra hospital, from June 1, 2011 to 30th February 2012. Among those who were admitted to neonatal intensive care unit (NICU), 253 infants were recruited by census according to HRIs criteria...
November 2017: Iranian Journal of Nursing and Midwifery Research
https://www.readbyqxmd.com/read/29162287/sustained-attention-in-school-age-children-with-congenital-hypothyroidism-influence-of-episodes-of-overtreatment-in-the-first-three-years-of-life
#6
L García Morales, M D Rodríguez Arnao, A Rodríguez Sánchez, E Dulín Íñiguez, M A Álvarez González
INTRODUCTION: Children with congenital hypothyroidism (CH) are at risk of developing mild cognitive impairment despite normal overall intellectual performance. These deficits may be caused by disease-related and treatment-related factors. This study explores the impact of abnormal thyroid function during the first 3 years of life on attention performance at school age. METHODS: We included 49 children diagnosed with CH and receiving treatment for the condition: 14 boys (mean age 9...
November 18, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/29159607/high-resolution-melting-analysis-hrm-for-mutational-screening-of-dnajc17-gene-in-patients-affected-by-thyroid-dysgenesis
#7
I C Nettore, S Desiderio, E De Nisco, V Cacace, L Albano, N Improda, P Ungaro, M Salerno, A Colao, P E Macchia
BACKGROUND: Congenital hypothyroidism is a frequent disease occurring with an incidence of about 1/1500 newborns/year. In about 75% of the cases, CH is caused by alterations in thyroid morphogenesis, defined "thyroid dysgenesis" (TD). TD is generally a sporadic disease but in about 5% of the cases a genetic origin has been demonstrated. Previous studies indicate that Dnajc17 as a candidate modifier gene for hypothyroidism, since it is expressed in the thyroid bud, interacts with NKX2...
November 20, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29155306/reverse-t3-interacts-with-%C3%AE-v%C3%AE-3-integrin-receptor-and-restores-enzyme-activities-in-the-hippocampus-of-hypothyroid-developing-rats-insight-on-signaling-mechanisms
#8
Juliana Tonietto Domingues, Daiane Cattani, Patricia Acordi Cesconetto, Bianka Alzira Nascimento de Almeida, Paula Peirozan, Guilherme Razzera, Fátima Regina Mena Barreto Silva, Regina Pessoa-Pureur, Ariane Zamoner
In the present study we provide evidence that 3,3',5'-triiodothyronine (reverse T3, rT3) restores neurochemical parameters induced by congenital hypothyroidism in rat hippocampus. Congenital hypothyroidism was induced by adding 0.05% propylthiouracil in the drinking water from gestation day 8 and continually up to lactation day 15. In the in vivo rT3 exposure, hypothyroid 12-day old pups were daily injected with rT3 (50 ng/kg body weight) or saline until day 14. In the ex vivo rT3 treatment, hippocampal slices from 15-day-old hypothyroid pups were incubated for 30 min with or without rT3 (1 nM)...
November 16, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/29152903/reproductive-endocrine-phenotypes-relating-to-chd7-mutations-in-humans
#9
REVIEW
Ravikumar Balasubramanian, William F Crowley
Mutations in the gene CHD7 cause CHARGE syndrome, a rare multi-organ syndromic disorder. Gonadal defects are common in individuals with CHARGE syndrome (seen in ∼60-80% of cases) and represent the letter "G" in the CHARGE syndrome acronym. The gonadal defect in CHARGE syndrome results from congenital deficiency of the hypothalamic hormone Gonadotropin-releasing hormone (GnRH), which manifests clinically as pubertal failure and infertility, and biochemically as hypogonadotropic hypogonadism (low sex steroid hormone levels with inappropriately normal or low gonadotropin levels)...
November 20, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29152528/x-linked-lissencephaly-with-absent-corpus-callosum-and-abnormal-genitalia-an-evolving-multisystem-syndrome-with-severe-congenital-intestinal-diarrhea-disease
#10
David Coman, Tom Fullston, Cheryl Shoubridge, Richard Leventer, Flora Wong, Simon Nazaretian, Ian Simpson, Josef Gecz, George McGillivray
X-linked lissencephaly with abnormal genitalia is a rare and devastating syndrome. The authors present an infant with a multisystem phenotype where the intestinal manifestations were as life limiting as the central nervous system features. Severe chronic diarrhea resulted in failure to thrive, dehydration, electrolyte derangements, long-term hospitalization, and prompted transition to palliative care. Other multisystem manifestations included megacolon, colitis, pancreatic insufficiency hypothalamic dysfunction, hypothyroidism, and hypophosphatasia...
January 2017: Child Neurology Open
https://www.readbyqxmd.com/read/29149429/population-analysis-of-predictors-of-difficult-intubation-with-direct-laryngoscopy-in-pediatric-patients-with-and-without-thyroid-disease
#11
Aalap C Shah, William C K Ng, Sean Sinnott, Joseph P Cravero
PURPOSE: There are no data on the prevalence and predictors of difficult intubation (DI) in pediatric patients with thyroid disease. This study (1) assesses the prevalence of DI in patients with thyroid disease undergoing elective operations, (2) identifies other predictors of DI in children, and (3) evaluates the effect of DI on postoperative care and length-of-stay. METHODS: A single-center retrospective cohort analysis of procedures in patients assigned with an ICD-9 code for thyroid disease between June 2012 and February 2016...
November 17, 2017: Journal of Anesthesia
https://www.readbyqxmd.com/read/29146476/mutation-screening-of-the-glis3-gene-in-a-cohort-of-592-chinese-patients-with-congenital-hypothyroidism
#12
Chunyun Fu, Shiyu Luo, Xigui Long, Yingfeng Li, Shangyang She, Xuehua Hu, Meizhen Mo, Zhanghong Wang, Yuhua Chen, Chun He, Jiasun Su, Yue Zhang, Fei Lin, Bobo Xie, Qifei Li, Shaoke Chen
OBJECTIVES: Defects in the human GLI-similar 3 (GLIS3) gene are reported to be a rare cause of congenital hypothyroidism (CH) and neonatal diabetes. The aim of this study was to examine the prevalence of GLIS3 mutation among CH patients in the Guangxi Zhuang Autonomous Region of China and to define the relationships between GLIS3 genotypes and clinical phenotypes. METHODS: Blood samples were collected from 592 patients with CH in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes...
November 13, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29144197/evaluation-of-umelisa-%C3%A2-t4-neonatal-and-umelisa-%C3%A2-t4-using-polystyrene-plates-coated-with-anti-thyroxine-t4-monoclonal-antibodies
#13
Elisa M Castells, Ernesto C González, Pedro L Pérez, Lesley Del Río, Yileidis Tejeda, Yenitse Perea, Odalys Martín, Maryeris Espinosa, Jose A Rivero, Amarilys Frómeta
Congenital hypothyroidism is one of the most common preventable causes of mental retardation. The Center of Immunoassay has developed the UMELISA(®) T4 NEONATAL and UMELISA(®) T4 to determine neonatal T4 levels in dried blood and serum samples. Both reagent kits use the same polystyrene plates coated with anti- thyroxine (T4) polyclonal antibodies as solid phase. This work shows the re-standardization of the UMELISA(®) T4 NEONATAL and UMELISA(®) T4 using plates coated with anti-T4 monoclonal antibodies (T4Mabs)...
November 16, 2017: Journal of Immunoassay & Immunochemistry
https://www.readbyqxmd.com/read/29142577/congenital-hypothyroidism-in-neonates-of-a-tertiary-care-hospital
#14
Adeel Ahmad, Anam Wasim, Shahida Hussain, Muhammad Saeed, Bilal Munir Ahmad, Khalil Ur Rehman
Objective: To determine neonatal congenital hypothyroidism among neonates born in a tertiary care hospital of Lahore Pakistan. Methods: This cross-sectional study was carried out at Pathology Department of Allama Iqbal Medical College, Lahore in collaboration with Pediatrics and Gynecology & Obstetrics Department, Jinnah Hospital, Lahore Pakistan. A total of 770 babies were included in this study, both male and female. About 2 ml venous blood samples were collected aseptically from the neonates in sterile clotted tube...
September 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/29107171/progression-from-isolated-growth-hormone-deficiency-to-combined-pituitary-hormone-deficiency
#15
REVIEW
Manuela Cerbone, Mehul T Dattani
Growth hormone deficiency (GHD) can present at any time of life from the neonatal period to adulthood, as a result of congenital or acquired insults. It can present as an isolated problem (IGHD) or in combination with other pituitary hormone deficiencies (CPHD). Pituitary deficits can evolve at any time from GHD diagnosis. The number, severity and timing of occurrence of additional endocrinopathies are highly variable. The risk of progression from IGHD to CPHD in children varies depending on the etiology (idiopathic vs organic)...
October 19, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29106863/clinical-variables-determining-the-success-of-adenotonsillectomy-in-children-with-down-syndrome
#16
Maíra da Rocha, Renata Caroline Mendonça Ferraz, Vitor Guo Chen, Gustavo Antonio Moreira, Reginaldo Raimundo Fujita
OBJECTIVES: To evaluate the evolution of polysomnographic parameters of children with Down syndrome and obstructive sleep apnea syndrome submitted to adenotonsillectomy and the interaction of comorbidities on therapeutic outcome. METHODS: Ninety patients with Down syndrome and habitual snoring were identified between 2005 and 2015 in a Pediatric Otorhinolaryngology Clinic. Parent's complaints were evaluated by the test of equality of two proportions. Wilcoxon test was used to examine pre- and post-operative polysomnographic differences...
November 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29092890/association-between-monoallelic-tshr-mutations-and-congenital-hypothyroidism-a-statistical-approach
#17
Kiyomi Abe, Satoshi Narumi, Ayuko Suzuki Suwanai, Masanori Adachi, Koji Muroya, Yumi Asakura, Keisuke Nagasaki, Takayuki Abe, Tomonobu Hasegawa
Objective: Biallelic TSHR mutations cause congenital hypothyroidism (CH). Serum TSH levels of monoallelic TSHR mutation carriers range from normal to mildly elevated, and thus the size of its effect remains unclear. The objectives were to examine the association between monoallelic TSHR mutations and positivity at newborn screening (NBS) for CH, and to test whether the association was modified by another genetic factor. Subjects and methods: We enrolled 395 patients that had a positive result in NBS, and sequenced TSHR Monoallelic TSHR mutation carriers were further sequenced for DUOX2 Molecular functions of the mutations were verified in vitro The frequency of the mutations in the study subjects was compared with a theoretical value in the Japanese general population...
November 1, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29084139/the-impact-of-iodine-status-on-the-recall-rate-of-the-screening-program-for-congenital-hypothyroidism-findings-from-two-national-studies-in-iran
#18
Ladan Mehran, Shahin Yarahmadi, Davood Khalili, Pantea Nazeri, Hossein Delshad, Zahra Abdollahi, Nasrin Azhang, Fereidoun Azizi
Back ground: Iodine deficiency is one of the important factors in increasing the recall rate in congenital hypothyroidism (CH) screening programs. The present study assessed whether the iodine status of the general population may predict the recall rate or vice versa. METHODS: In the current national study, among 1,382,229 live births delivered between March 2010 and March 2011, 1,288,237 neonates were screened for detecting CH by TSH (thyroid stimulating hormone) measurement via heel prick sampling...
October 30, 2017: Nutrients
https://www.readbyqxmd.com/read/29083325/glis3-is-indispensable-for-tsh-tshr-dependent-thyroid-hormone-biosynthesis-and-follicular-cell-proliferation
#19
Hong Soon Kang, Dhirendra Kumar, Grace Liao, Kristin Lichti-Kaiser, Kevin Gerrish, Xiao-Hui Liao, Samuel Refetoff, Raja Jothi, Anton M Jetten
Deficiency in Krüppel-like zinc finger transcription factor GLI-similar 3 (GLIS3) in humans is associated with the development of congenital hypothyroidism. However, the functions of GLIS3 in the thyroid gland and the mechanism by which GLIS3 dysfunction causes hypothyroidism are unknown. In the current study, we demonstrate that GLIS3 acts downstream of thyroid-stimulating hormone (TSH) and TSH receptor (TSHR) and is indispensable for TSH/TSHR-mediated proliferation of thyroid follicular cells and biosynthesis of thyroid hormone...
October 30, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29074613/the-incidence-of-congenital-hypothyroidism-ch-in-guangxi-china-and-the-predictors-of-permanent-and-transient-ch
#20
Chunyun Fu, Shiyu Luo, Yingfeng Li, Qifei Li, Shangyang She, Xuehua Hu, Mengting Li, Yue Zhang, Jiasun Su, Xuyun Hu, Yun Chen, Jin Wang, Bobo Xie, Shujie Zhang, Jingsi Luo, Xin Fan, Shaoke Chen, Yiping Shen
OBJECTIVE: To investigate the incidence of CH in Guangxi, China, and to analyze the predictors that might allow for an early differentiation between permanent (P) and transient (T) CH. DESIGN AND METHODS: Blood samples were collected on filter paper between 3-7 days after birth, TSH level was measured by time-resolved fluorescence assay. Individuals with increased TSH levels detected by newborn screening were recalled for further evaluation by electrochemiluminescence assay...
October 26, 2017: Endocrine Connections
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