keyword
https://read.qxmd.com/read/38533278/prevalence-of-congenital-hypothyroidism-in-india-mapping-and-critical-appraisal
#1
JOURNAL ARTICLE
Vijaya Sarathi, Siddu Nikith
No abstract text is available yet for this article.
2024: Indian Journal of Endocrinology and Metabolism
https://read.qxmd.com/read/38532265/clinical-and-magnetic-resonance-imaging-findings-in-a-french-bulldog-puppy-with-genetically-confirmed-congenital-hypothyroidism
#2
Katia Sánchez González, Harry Warwick, Marius Conradie, Neringa Alisauskaite
A 7-month-old male French bulldog was referred for abnormal mentation and gait. Physical examination revealed a dome shaped calvarium and persistent bregmatic fontanelle. Neurological examination revealed proprioceptive ataxia, pelvic limb paraparesis and strabismus with moderate ventriculomegaly, thinning of the cerebral parenchyma, and widened cerebral sulci on magnetic resonance imaging. Masses were identified in the region of the thyroid, which appeared heterogeneous and hyperintense in T1-weighted and T2-weighted compared with the adjacent muscle signal masses were identified...
March 26, 2024: Journal of Veterinary Internal Medicine
https://read.qxmd.com/read/38521387/thyroid-hormone-deprival-and-tsh-tshr-signaling-deficiency-lead-to-central-hypothyroidism-associated-intestinal-dysplasia
#3
JOURNAL ARTICLE
Li Peng, Sisi Luan, Xin Shen, Huidong Zhan, Yueping Ge, Yixiao Liang, Jing Wang, Yang Xu, Shanshan Wu, Xia Zhong, Haiqing Zhang, Ling Gao, Jiajun Zhao, Zhao He
BACKGROUND: Central hypothyroidism (CH) is characterized by low T4 levels and reduced levels or bioactivity of circulating TSH. However, there is a lack of studies on CH-related intestinal maldevelopment. In particular, the roles of TH and TSH/TSHR signaling in CH-related intestinal maldevelopment are poorly understood. Herein, we utilized Tshr-/- mice as a congenital hypothyroidism model with TH deprival and absence of TSHR signaling. METHODS: The morphological characteristics of intestines were determined by HE staining, periodic acid-shiff staining, and immunohistochemical staining...
March 21, 2024: Life Sciences
https://read.qxmd.com/read/38482822/disulfide-bonds-of-thyroid-peroxidase-are-critical-elements-for-subcellular-localization-proteasome-dependent-degradation-and-enzyme-activity
#4
JOURNAL ARTICLE
Hajime Iwasaki, Hirotsugu Suwanai, Fumiyoshi Yakou, Hiroyuki Sakai, Keitaro Ishii, Natsuko Hara, Ashley M Buckle, Kohsuke Kanekura, Tamami Miyagi, Satoshi Narumi, Ryo Suzuki
BACKGROUND: Congenital hypothyroidism (CH) is caused by mutations in cysteine residues, including Cys655 and Cys825 that form disulfide bonds in thyroid peroxidase (TPO). It is highly likely that these disulfide bonds could play an important role in TPO activity. However, to date, no study has comprehensively analyzed cysteine mutations that form disulfide bonds in TPO. In this study, we induced mutations in cysteine residues involved in disulfide bonds formation and analyzed their effect on subcellular localization, degradation, and enzyme activities to evaluate the importance of disulfide bonds in TPO activity...
March 14, 2024: Thyroid: Official Journal of the American Thyroid Association
https://read.qxmd.com/read/38468821/-jag1-variants-confer-genetic-susceptibility-to-thyroid-dysgenesis-and-thyroid-dyshormonogenesis-in-813-congenital-hypothyroidism-in-china
#5
JOURNAL ARTICLE
Miaomiao Li, Xiaoyu Wang, Fang Wang, Fengqi Wang, Dehua Zhao, Shiguo Liu
BACKGROUND AND OBJECTIVE: Congenital hypothyroidism (CH) is indeed a prevalent neonatal endocrine disorder, affecting approximately 1 in 2000-3000 newborns worldwide, and 1 in 2400 newborns in China. Despite its high incidence, the genetic causes of CH, particularly those related to thyroid dysgenesis (TD), are still not well understood. However, previous studies have suggested that JAG1 may be a potential susceptibility gene for congenital thyroid defects. To explore the association between JAG1 and CH, we screened JAG1 variants in a large cohort of 813 CH patients...
2024: International Journal of General Medicine
https://read.qxmd.com/read/38465442/ectopic-lingual-thyroid-with-subclinical-hypothyroidism-in-children
#6
Se Jin An, Min Hyung Cho, Young Suk Shim, Hae Sang Lee, Jin Soon Hwang
OBJECTIVES: Lingual thyroid is a rare condition that affects approximately 1 in 100,000 individuals. Although it is usually detected in the pediatric population through newborn screening tests or evaluation of congenital hypothyroidism, there are cases in which it remains undetected until adulthood or until symptoms arise because of glandular enlargement. The possible symptoms of lingual thyroid include foreign body sensation in the throat, dysphagia, dyspnea, and hemorrhage. Several cases of lingual thyroid are asymptomatic and accompanied by subclinical hypothyroidism...
March 12, 2024: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/38462462/clinical-and-molecular-analyses-of-isolated-central-congenital-hypothyroidism-based-on-a-survey-conducted-in-japan
#7
JOURNAL ARTICLE
Nao Shibata, Chikahiko Numakura, Takashi Hamajima, Kenichi Miyako, Ikuma Fujiwara, Jun Mori, Akihiko Saitoh, Keisuke Nagasaki
Central congenital hypothyroidism (CH) can occur as an isolated deficiency or as part of combined pituitary hormone deficiency. Unlike primary CH, central CH cannot be detected by newborn screening (NBS) using dry filter paper blood TSH levels, and early diagnosis remains challenging. In this study, the clinical and genetic backgrounds of patients with isolated central CH were determined through a questionnaire-based survey among members of the Japanese Society for Pediatric Endocrinology. The known causes of isolated central CH were studied in 14 patients, including six with previously reported patient data...
March 8, 2024: Endocrine Journal
https://read.qxmd.com/read/38455999/is-there-a-cumulative-effect-for-congenital-heart-defects-in-monochorionic-twins-after-assisted-reproduction-a-retrospective-analysis-at-a-tertiary-referral-center
#8
JOURNAL ARTICLE
Jarmila A Zdanowicz, Gülay Yildrim, Andreia Fonseca, Kurt Hecher, Manuela Tavares de Sousa
INTRODUCTION: The aim of our study was to compare maternal, chorionicity and neonatal complications in monochorionic (MC) twins between spontaneously conceived (SC) and assisted reproductive technologies (ART) pregnancies. MATERIAL AND METHODS: This was a retrospective cohort study between January 2010 to December 2019 at a tertiary referral University center. All consecutive pregnancies with MC twins that delivered at our University hospital were included. Maternal, chorionicity and neonatal complications were recorded and compared between SC and ART pregnancies...
March 2024: Geburtshilfe und Frauenheilkunde
https://read.qxmd.com/read/38455622/normal-intellectual-ability-and-hyperprolactinemia-as-unique-clinical-manifestations-of-congenital-hypothyroidism-a-case-report-and-review-of-hypotheses
#9
JOURNAL ARTICLE
Putri O Zulfa, Maulina Debbyousha, Krishna W Sucipto, Agustia S Ekadamayanti, Sarah Firdausa, Hendra Zufry
Congenital hypothyroidism is the deficiency of thyroid hormone in infants and hyperprolactinemia is frequently observed. Previously reported cases typically involve intellectual disability, highlighting this particular unique case report to the first reported patient demonstrating normal intellectual ability despite experiencing growth and gonad dysfunction. This study aims to present a case and review medical hypotheses related to the patient's condition. A 19-year-old female presented with a chief complaint of irregular menstruation for up to 40 days or not occurring at all...
December 2023: Narra J
https://read.qxmd.com/read/38439634/impact-of-obstructive-sleep-apnoea-on-cardiovascular-outcomes-and-mortality-in-young-adults-with-congenital-heart-anomalies-insights-from-the-national-inpatient-sample-2019
#10
JOURNAL ARTICLE
Ankit Vyas, Rupak Desai, Nitin Ghadge, Prerna Bansal, Harika Varma Chintalapalli Patta, Maharshi Raval, Akhil Jain, Tripti Gupta, Harshil Patel, Ashok Kondur, Carl J Lavie
BACKGROUND: Obstructive sleep apnoea is a common sleep disorder, and adult congenital heart disease (CHD) is also a significant burden on the population. Early diagnosis and treatment are important for improving quality of life and reducing the risk of health complications. The limited research on obstructive sleep apnoea and adult CHD highlights the need for further investigation into the relationship between these two conditions and the mechanisms underlying this relationship. METHOD: We used NIS 2019 database to identify adult CHD admissions aged 18-44 years and assess the impact of obstructive sleep apnoea on all-cause mortality, dysrhythmia, and stroke...
March 5, 2024: Cardiology in the Young
https://read.qxmd.com/read/38433930/congenital-disorder-of-glycosylation-type-ia-in-a-chinese-family-function-analysis-of-a-novel-pmm2-complex-heterozygosis-mutation
#11
Dan Zhong, Xiujuan Huang, Taoshan Feng, Jieqing Zeng, Shanshan Gu, Fan Ning, Yue Yang, Jinyuan Zhu, Yajun Wang, Riling Chen, Guoda Ma
Congenital disorder of glycosylation type Ia (CDG-Ia) is an autosomal recessive genetic disease caused by a mutation in the phosphomannomutase 2 (PMM2) gene. We have identified a 13-month-old boy who has been diagnosed with CDG-Ia. He displays several characteristic symptoms, including cerebellar hypoplasia, severe developmental retardation, hypothyroidism, impaired liver function, and abnormal serum ferritin levels. Through whole-exome sequencing, we discovered novel complex heterozygous mutations in the PMM2 gene, specifically the c...
June 2024: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/38433572/-tshr-variant-screening-and-phenotype-analysis-in-367-chinese-patients-with-congenital-hypothyroidism
#12
JOURNAL ARTICLE
Hai-Yang Zhang, Feng-Yao Wu, Xue-Song Li, Ping-Hui Tu, Cao-Xu Zhang, Rui-Meng Yang, Ren-Jie Cui, Chen-Yang Wu, Ya Fang, Liu Yang, Huai-Dong Song, Shuang-Xia Zhao
BACKGROUND: Genetic defects in the human thyroid-stimulating hormone (TSH) receptor ( TSHR ) gene can cause congenital hypothyroidism (CH). However, the biological functions and comprehensive genotype-phenotype relationships for most TSHR variants associated with CH remain unexplored. We aimed to identify TSHR variants in Chinese patients with CH, analyze the functions of the variants, and explore the relationships between TSHR genotypes and clinical phenotypes. METHODS: In total, 367 patients with CH were recruited for TSHR variant screening using whole-exome sequencing...
March 4, 2024: Annals of Laboratory Medicine
https://read.qxmd.com/read/38429788/thyroid-hormone-protects-human-lung-epithelial-cells-from-cold-preservation-and-warm-reperfusion-induced-injury
#13
JOURNAL ARTICLE
Dejan Bojic, Tanroop Aujla, Junichi Sugihara, Aaron Wong, Shaf Keshavjee, Mingyao Liu
BACKGROUND: Cellular stress associated with static-cold storage (SCS) and warm reperfusion of donor lungs can contribute to ischemia-reperfusion (IR) injury during transplantation. Adding cytoprotective agents to the preservation solution may be conducive to reducing graft deterioration and improving post-transplant outcomes. METHODS: SCS and warm reperfusion were simulated in human lung epithelial cells (BEAS-2B) by exposing cells to low potassium dextran glucose solution at 4 °C for different periods and then switching back to serum-containing culture medium at 37 °C...
March 1, 2024: Journal of Translational Medicine
https://read.qxmd.com/read/38401790/screening-for-delayed-thyroid-stimulation-hormone-rise-and-atypical-congenital-hypothyroidism-in-infants-born-very-preterm-and-very-low-birth-weight-infants
#14
JOURNAL ARTICLE
Nolan Bret, Uy Cherry, Stablein Lisa, Bany-Mohammed Fayez
OBJECTIVE: To determine among infants born very preterm (VPT) or with very low birth weight (VLBW) the incidence of alterations in thyroid function and associated co-morbidities; the incidence of atypical congenital hypothyroidism (CH) requiring thyroxine therapy; and 3) reference ranges for re-screening at one month of age. STUDY DESIGN: A retrospective review of infants born VPT or with VLBW and admitted to UCI Medical Center between 1/1/2012 and 12/31/2020. Repeat thyroid screening was obtained at 1 month of life (+ 10 days)...
February 22, 2024: Journal of Pediatrics
https://read.qxmd.com/read/38390980/history-of-neonatal-screening-of-congenital-hypothyroidism-in-portugal
#15
JOURNAL ARTICLE
Maria José Costeira, Patrício Costa, Susana Roque, Ivone Carvalho, Laura Vilarinho, Joana Almeida Palha
Congenital hypothyroidism (CH) leads to growth and development delays and is preventable with early treatment. Neonatal screening for CH was initiated in Portugal in 1981. This study examines the history of CH screening in the country. Data were obtained from annual reports and from the national database of neonatal screening laboratory. The CH screening strategy primarily relies on the thyroid-stimulating hormone (TSH), followed by total thyroxine measurement as the second tier for confirmation. The TSH cutoff started at 90 mIU/L, decreasing to the actual 10 mIU/L...
February 20, 2024: International Journal of Neonatal Screening
https://read.qxmd.com/read/38390972/experiences-and-challenges-with-congenital-hypothyroidism-newborn-screening-in-indonesia-a-national-cross-sectional-survey
#16
JOURNAL ARTICLE
Aman Bhakti Pulungan, Helena Arnetta Puteri, Muhammad Faizi, Paul Leslie Hofman, Agustini Utari, Jean-Pierre Chanoine
The expansion of newborn screening (NBS) for congenital hypothyroidism (CH) is essential to reducing the number of preventable intellectual disabilities in children. Because of logistical issues, including geographic extremes, distinct cultures, and 4.8 million births annually, Indonesia has struggled to achieve universal NBS coverage. A national cross-sectional electronic survey was conducted to explore challenges in CH NBS. Responses from 423 healthcare professionals and program administrators across 30 provinces in Indonesia were collected...
January 19, 2024: International Journal of Neonatal Screening
https://read.qxmd.com/read/38381448/mutant-tbl1x-male-mice-have-a-short-lifespan-and-do-not-breed-unexpected-findings
#17
JOURNAL ARTICLE
Yalan Hu, Gemma F Codner, Michelle Stewart, Susanne E La Fleur, Paul As van Trotsenburg, Eric Fliers, Raoul C Hennekam, Anita Boelen
Humans with the mutation Y509C in transducin beta like 1 X-linked (TBL1X HGNC ID HGNC:11585) have been reported to present with the combination of central congenital hypothyroidism and impaired hearing. TBL1X belongs to the WD40 repeat-containing protein family, is part of NCoR and SMRT corepressor complexes, and thereby involved in thyroid hormone signaling. In order to investigate the effects of the Y509C mutation in TBL1X on cellular thyroid hormone action, we aimed to generate a hemizygous male mouse cohort carrying the Tbl1x Y459C mutation which is equivalent to the human TBL1X Y509C mutation using CRISPR/Cas9 technology...
February 1, 2024: Journal of Molecular Endocrinology
https://read.qxmd.com/read/38373250/genotype-phenotype-correlations-in-thirty-japanese-patients-with-congenital-hypothyroidism-attributable-to-tg-defects
#18
JOURNAL ARTICLE
Kanako Tanase-Nakao, Megumi Iwahashi-Odano, Chiho Sugisawa, Kiyomi Abe, Koji Muroya, Yukiyo Yamamoto, Yasusada Kawada, Yuichi Mushimoto, Kazuhiro Ohkubo, Saori Kinjo, Kazuhiro Shimura, Kohei Aoyama, Haruo Mizuno, Tomoyuki Hotsubo, Chie Takahashi, Tsuyoshi Isojima, Yoko Kina, Satoshi Takakuwa, Junpei Hamada, Miwa Sawaki, Keiichi Shigehara, Satoru Sugimoto, Yuri Etani, Hiroko Narumi-Wakayama, Yusuke Mine, Tomonobu Hasegawa, Akira Hishinuma, Satoshi Narumi
CONTEXT: Thyroglobulin (Tg), encoded by TG, is essential for thyroid hormone synthesis. TG defects result in congenital hypothyroidism (CH). Most reported patients were born before the introduction of newborn screening (NBS). OBJECTIVE: We aimed to clarify the phenotypic features of patients with TG defects diagnosed and treated since the neonatal period. SUBJECTS AND METHODS: We screened 1061 patients with CH for thirteen CH-related genes and identified thirty patients with TG defects...
February 19, 2024: Journal of Clinical Endocrinology and Metabolism
https://read.qxmd.com/read/38361884/newborn-screening-for-congenital-hypothyroidism-congenital-adrenal-hyperplasia-and-glucose-6-phosphate-dehydrogenase-deficiency-in-bihar-a-pressing-priority-in-today-s-time
#19
JOURNAL ARTICLE
Bandana Kumari, Khushboo Raj, Sadhana Sharma, Sushil Kumar, Bhabesh K Chowdhry, Amit Kumar
BACKGROUND AND OBJECTIVE: Newborn screening (NBS) aims towards early detection of congenital disorders or prevention of intellectual and physical defects and life-threatening illness. Three disorders namely congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH) and glucose-6-phosphate dehydrogenase deficiency (G-6-PDD) were selected for a preliminary study for NBS. The study aimed to establish NBS in the Indian scenario that could lay a framework for future such initiatives...
December 2023: Journal of Family Medicine and Primary Care
https://read.qxmd.com/read/38342389/antioxidant-effects-of-%C3%AE-lipoic-acid-against-epididymal-oxidative-damage-in-adult-offspring-rats-exposed-to-maternal-hypothyroidism-stress
#20
JOURNAL ARTICLE
P Prathima, K Venkaiah, M Hanuma Reddy, Jangampalli Adi Pradeepkiran, S B Sainath
It is well known that the epididymis promotes post-testicular sperm maturation events. However, its malfunction during congenital hypothyroidism is relatively less understood as compared to the testis. The present study evaluated the probable effect of α-lipoic acid on epididymal oxidative stress parameters in rats exposed to antithyroid drug, carbimazole during fetal period. Time-mated pregnant rats in unexposed and carbimazole (1.35mg/Kg body weight exposed were allowed to deliver pups and weaned. At postnatal day 100, the F1 male pups were assessed for epididymal endpoints...
February 9, 2024: Reproductive Toxicology
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