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congenital hypothyroidism

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https://www.readbyqxmd.com/read/29668548/clinical-course-of-homozygous-hemoglobin-constant-spring-in-pediatric-patients
#1
Patcharee Komvilaisak, Arunee Jetsrisuparb, Goonnapa Fucharoen, Ratana Komwilaisak, Junya Jirapradittha, Pakaphan Kiatchoosakun
BACKGROUND: Hemoglobin (Hb) Constant Spring is an alpha-globin gene variant due to a mutation of the stop codon resulting in the elongation of the encoded polypeptide from 141 to 172 amino acid residues. Patients with homozygous Hb Constant Spring are usually mildly anemic. METHODS: We retrospectively describe clinical manifestations, diagnosis, laboratory investigations, treatment, and associated findings in pediatric patients with homozygous Hb Constant Spring followed-up at Srinagarind Hospital...
April 17, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29665652/the-protective-effect-of-p7c3-against-dna-and-neuron-damage-in-rat-pups-with-congenital-hypothyroidism
#2
Halef Okan Dogan, Mehmet Eray Alcigir
Congenital hypothyroidism (CH) is defined as congenital thyroid hormone deficiency. The aim of this study was to examine the DNA and neuron damage in rat pups with CH and to evaluate the beneficial effects of 3.6-Dibromo-α-[(phenylamino) methyl]-9H-carbazole-9-ethanol (P7C3). Rat pups were assigned to four groups as Group 1: CH, Group 2: CH treated with P7C3, Group 3: CH treated with P7C3 and L-thyroxine, and Group 4: control group. Plasma 8-(OH)DG and neuron-specific enolase (NSE) concentrations were determined in all groups...
March 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29662269/two-siblings-with-congenital-central-hypothyroidism-caused-by-a-novel-mutation-in-the-igsf1-gene
#3
Makiko Oguma, Mizuki Kobayashi, Masayo Yamazaki, Koji Yokoyama, Shuntaro Morikawa, Takeshi Yamaguchi, Takanori Yamagata, Toshihiro Tajima
Genetic defects in the immunoglobulin superfamily member 1(IGSF1) protein are the cause of congenital central hypothyroidism (C-CH). Here we report two Japanese siblings with C-CH due to a novel IGSF1 mutation. The youngest brother showed a failure to thrive, hypothermia, and neonatal icterus six days after birth. Further endocrine evaluations led to the diagnosis of C-CH. In addition, PRL deficiency was later detected. In contrast, the elder brother did not show symptoms of severe hypothyroidism during the neonatal period, but he had been followed up by doctors due to psychomotor developmental delays since the age of 1 yr...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29652955/-neurodevelopmental-assessment-of-patients-with-congenital-hypothyroidism
#4
Alicia Núñez, Paula Bedregal, Carlos Becerra, Francisca Grob L
Congenital hypothyroidism (CH) is the most common cause of preventable cognitive disability worldwide. Generally, it is produced by an alteration in the embryogenesis of the thyroid gland or by an alteration in the synthesis of thyroid hormones, which determine that affected patients have low or absent thyroid hormone concentrations. The importance of this fact is that brain development during the first three years of life is highly dependent on thyroid hormones. Prior to the implementation of national neonatal screening programs around the world, 8 to 27% of children with CH had an IQ lower than 70...
December 2017: Revista Médica de Chile
https://www.readbyqxmd.com/read/29650690/the-genetic-characteristics-of-congenital-hypothyroidism-in-china-by-comprehensive-screening-of-21-candidate-genes
#5
Feng Sun, Jun-Xiu Zhang, Chang-Yi Yang, Guan-Qi Gao, Wen-Bin Zhu, Bing Han, Le-Le Zhang, Yue-Yue Wan, Xiao-Ping Ye, Yu-Ru Ma, Man-Man Zhang, Liu Yang, Qian-Yue Zhang, Wei Liu, Cui-Cui Guo, Gang Chen, Shuang-Xia Zhao, Ke-Yi Song, Huaidong Song
Objective Congenital hypothyroidism (CH), the most common neonatal metabolic disorder, is characterized by impaired neurodevelopment. Although several candidate genes have been associated with CH, comprehensive screening of causative genes has been limited. Desgin and Methods One-hundred and ten patients with primary CH were recruited in this study. All exons and exon-intron boundaries of 21 candidate genes for CH were analyzed by next-generation sequencing. And the intertance pattern of causative genes was analysised by the study of family pedigrees...
April 12, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29629049/risk-factors-associated-with-congenital-hypothyroidism-a-case-control-study-in-southeast-iran
#6
Mohammad Khammarnia, Fariba Ramezani Siakhulak, Hossein Ansari, Mostafa Peyvand
Background and aim: Congenital hypothyroidism (CH) is known as one of the most common preventable cause of mental retardation. This study aimed to determine factors associated with CH in Iran. Methods: This case-control study was conducted on 160 children under one year old in Zahedan in southeast Iran in 2016. The neonates who were born from March 1, 2015 to March 19, 2016 and had undergone a screening program for CH were the study population. The neonates with serum TSH > 10mIu/L and T4 < 6...
February 2018: Electronic Physician
https://www.readbyqxmd.com/read/29610158/lung-volume-reduction-surgery-for-respiratory-failure-in-infants-with-bronchopulmonary-dysplasia
#7
Bongyeon Sohn, Samina Park, In Kyu Park, Young Tae Kim, June Dong Park, Sung-Hye Park, Chang Hyun Kang
Lung volume reduction surgery (LVRS) can be performed in patients with severe emphysematous disease. However, LVRS in pediatric patients has not yet been reported. Here, we report our experience with 2 cases of pediatric LVRS. The first patient was a preterm infant girl with severe bronchopulmonary dysplasia, pulmonary hypertension, and hypothyroidism. The emphysematous portion of the right lung was removed via sternotomy and right hemiclamshell incision. The patient was discharged on full-time home ventilator support for 3 months after the surgery...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29594256/from-consternation-to-revelation-discovery-of-a-role-for-igsf1-in-pituitary-control-of-thyroid-function
#8
REVIEW
Daniel J Bernard, Emilie Brûlé, Courtney L Smith, Sjoerd D Joustra, Jan M Wit
Immunoglobulin superfamily, member 1 (IGSF1) is a transmembrane glycoprotein highly expressed in the mammalian pituitary gland. Shortly after its discovery in 1998, the protein was proposed to function as a coreceptor for inhibins (and was even temporarily renamed inhibin binding protein). However, subsequent investigations, both in vitro and in vivo , failed to support a role for IGSF1 in inhibin action. Research on IGSF1 nearly ground to a halt until 2011, when next-generation sequencing identified mutations in the X-linked IGSF1 gene in boys and men with congenital central hypothyroidism...
March 1, 2018: Journal of the Endocrine Society
https://www.readbyqxmd.com/read/29593791/histopathological-characterization-and-whole-exome-sequencing-of-ectopic-thyroid-fetal-architecture-in-a-functional-ectopic-gland-from-adult-patient
#9
Rosalinda Yasato Camargo, Cristina Takami Kanamura, Celso Ubirajara Friguglietti, Célia Regina Nogueira, Sonia Iorcansky, Alfio José Tincani, Ana Karina Bezerra, Ester Brust, Fernanda Christtanini Koyama, Anamaria Aranha Camargo, Fernanda Orpinelli R Rego, Pedro Alexandre Favoretto Galante, Geraldo Medeiros-Neto, Ileana Gabriela Sanchez Rubio
Ectopic thyroid results from a migration defect of the developing gland during embryogenesis causing congenital hypothyroidism. But it has also been detected in asymptomatic individuals. This study aimed to investigate the histopathological, functional, and genetic features of human ectopic thyroids. Six samples were histologically examined, and the expression of the specific thyroid proteins was assessed by immunohistochemistry. Two samples were submitted to whole exome sequencing. An oropharynx sample showed immature fetal architecture tissue with clusters or cords of oval thyrocytes and small follicles; one sample exhibited a normal thyroid pattern while four showed colloid goiter...
2018: International Journal of Endocrinology
https://www.readbyqxmd.com/read/29572363/central-congenital-hypothyroidism-caused-by-maternal-thyrotoxicosis
#10
Daphne Peeters, Sandra van Gijlswijk, Ralph W Leunissen, Danielle C M van der Kaay
Central congenital hypothyroidism (CCH) is a rare and underdiagnosed disease that sometimes is caused by maternal Graves' disease. We report a case of CCH caused by undiagnosed, initially antibody-negative maternal thyrotoxicosis with possible disruption of fetal hypothalamic-pituitary-thyroid axis maturation. In CCH, maternal thyroid disease should be considered.
March 22, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29557609/parenting-styles-and-coping-strategies-among-patients-with-early-detected-and-treated-congenital-hypothyroidism
#11
María L Pardo Campos, Mariel Musso, Ana Keselman, Laura Gruñeiro, Ignacio Bergadá, Ana Chiesa
INTRODUCTION: Congenital hypothyroidism (CH), as any chronic disease, has an impact on the parent-child relationship and on the child's resources to cope with conflicting situations. OBJECTIVES: To describe parenting styles according to the perception of children with CH and their coping strategies. POPULATION AND METHODS: Children aged 9-10 years who had CH detected by newborn screening and had received adequate treatment and a group without CH (control group)...
April 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29549956/thyrotropic-hormones
#12
REVIEW
Meera Mallya, Amanda L Ogilvy-Stuart
Thyroid hormones are crucial for normal cognition and neurodevelopment in children. The introduction of the screening programs for congenital hypothyroidism has decreased the incidence of untreated congenital hypothyroidism. As maternal thyroid disease is common, and may impact on thyroid gland development and function in the fetus, optimal management is crucial. This review discusses thyroid function and the impact of maternal thyroid disease on the fetus and neonate, as well as the influence of thyroid hormones, thyroid antibodies and the excretion of thyroid medication into breast milk on infant thyroid function...
January 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29549556/newborn-screening-for-congenital-hypothyroidism-and-congenital-adrenal-hyperplasia
#13
(no author information available yet)
OBJECTIVE: The Task Force formed by ICMR aimed at studying the prevalence of congenital hypothyroidism and congenital adrenal hyperplasia, the template disorders included in all newborn screening programs, and to evaluate the unidentified challenges in its execution in health care services. It also intended to evaluate the feasibility of newborn screening with regards to different geo-ethnic regions from India. METHODS: Five metropolitan centers identified had further 2 to 11 centers; both the urban and the rural sectors were included and were considered representative of the northern, southern, eastern, western and central parts of the country...
March 17, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29546359/molecular-analysis-of-congenital-hypothyroidism-in-saudi-arabia-slc26a7-mutation-is-a-novel-defect-in-thyroid-dyshormonogenesis
#14
Minjing Zou, Ali S Alzahrani, Ali Al-Odaib, Mohammad A Alqahtani, Omer Babiker, Roua A Al-Rijjal, Huda A BinEssa, Walaa E Kattan, Anwar F Al-Enezi, Ali Al Qarni, Manar S A Al-Faham, Essa Y Baitei, Afaf Alsagheir, Brian F Meyer, Yufei Shi
Context: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, affecting one in 3000-4000 newborns. Since the introduction of a newborn screening program in 1988, more than 300 cases have been identified. The underlying genetic defects have not been systematically studied. Objective: To identify mutation spectrum of CH-causing genes. Methods: Fifty-five patients from 47 families were studied by next-generation-exome sequencing...
March 12, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29540462/evaluation-of-the-congenital-hypothyroidism-screening-programme-in-iran-a-3-year-retrospective-cohort-study
#15
Ladan Mehran, Davood Khalili, Shahin Yarahmadi, Hossein Delshad, Yadollah Mehrabi, Atieh Amouzegar, Nasrin Ajang, Fereidoun Azizi
OBJECTIVE: To evaluate the newborn screening programme for congenital hypothyroidism (CH) in Iran from diagnosis to management and follow-up for 3 years from 2011 to 2014. DESIGN: Retrospective cohort. SETTING AND PATIENTS: Seventeen university districts were randomly selected from 30 provinces. Central data in each district were gathered and collectively analysed. Congenital hypothyroid subjects were followed for 3 years. MAIN OUTCOME MEASURES: Programme coverage, screening and treatment age, recall rate, compliance to follow-ups...
March 14, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29530127/-advances-in-genetic-research-of-congenital-hypothyroidism-in-china
#16
Xiao-Yu Chen, Xiao-Song Qin
Congenital hypothyroidism (CH), which results from insufficient thyroid hormone biosynthesis, is one of the most common neonatal endocrine disorders. Thyroid dysgenesis and thyroid dyshormonogenesis are the two causes of CH and either one will lead to deficiencies of enzymes during thyroid hormone biosynthesis and insufficient thyroid hormone biosynthesis. Recently, researchers have performed extensive studies on genetics of CH. This paper reviews genes reported to be associated with CH in China.
March 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29528401/assessment-of-knowledge-attitudes-and-practices-towards-newborn-screening-for-congenital-hypothyroidism-before-and-after-a-health-education-intervention-in-pregnant-women-in-a-hospital-setting-in-pakistan
#17
Batha Tariq, Ayesha Ahmed, Atif Habib, Ali Turab, Noshad Ali, Sajid Bashir Soofi, Shanila Nooruddin, Rekha J Kumar, Amin Tariq, Fariha Shaheen, Shabina Ariff
Background: Most congenital hypothyroidism (CH) is not avertable; however, the adverse effects of CH are preventable with early detection and treatment. It is a common congenital endocrine disorder that affects 1 in 2000-4000 newborns globally. The true incidence in Pakistan is unknown. Data from hospital studies quote an incidence of 1 in 1600-2000. The aim of this study was to uncover existing knowledge of CH and screening for the condition and to assess the impact of health education on mothers' knowledge and attitudes towards having their newborns screened...
March 1, 2018: International Health
https://www.readbyqxmd.com/read/29522169/effects-of-mild-perinatal-hypothyroidism-on-cognitive-function-of-adult-male-offspring
#18
Izuki Amano, Yusuke Takatsuru, Miski Aghnia Khairinisa, Michifumi Kokubo, Asahi Haijima, Noriyuki Koibuchi
Mild perinatal hypothyroidism may result from inadequate iodine intake, insufficient treatment of congenital hypothyroidism, or exposure to endocrine disrupting chemicals. Because thyroid hormone is critical for brain development, severe hypothyroidism that is untreated in infancy causes irreversible cretinism. Milder hypothyroidism may also affect cognitive development; however, the effects of mild and/or moderate hypothyroidism on brain development are not fully understood. In this study, we examined the behavior of adult male mice rendered mildly hypothyroid during the perinatal period using low-dose propylthiouracil (PTU)...
March 7, 2018: Endocrinology
https://www.readbyqxmd.com/read/29507327/generation-and-characterization-of-a-hypothyroidism-rat-model-with-truncated-thyroid-stimulating-hormone-receptor
#19
Jianqiang Yang, Ning Yi, Junhui Zhang, Wen He, Di He, Wanwan Wu, Shuyang Xu, Feng Li, Guoping Fan, Xianmin Zhu, Zhigang Xue, Wensheng Zhou
Thyroid stimulating hormone receptor (TSHR), a G-protein-coupled receptor, is important for thyroid development and growth. In several cases, frameshift and/or nonsense mutations in TSHR were found in the patients with congenital hypothyroidism (CH), however they have not been functionally studied in an animal model. In the present work, we generated a unique TshrDf/Df rat model that recapitulates the phenotypes in TSHR Y444X patient by CRISPR/Cas genome editing technology. In this rat model, TSHR is truncated at the second transmembrane domain, leading to CH phenotypes as what was observed in the patients, including dwarf, thyroid aplasia, infertility, TSH resistant as well as low serum thyroid hormone levels...
March 5, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29503268/prevention-of-neurocognitive-impairment-in-children-through-newborn-screening-for-congenital-hypothyroidism
#20
P S N Menon
No abstract text is available yet for this article.
February 15, 2018: Indian Pediatrics
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