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"Congenital hypothyroidism"

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https://www.readbyqxmd.com/read/29455331/newborn-screening-guidelines-for-congenital-hypothyroidism-in-india-recommendations-of-the-indian-society-for-pediatric-and-adolescent-endocrinology-ispae-part-ii-imaging-treatment-and-follow-up
#1
REVIEW
S Sudhanshu, I Riaz, R Sharma, M P Desai, R Parikh, V Bhatia
The Indian Society for Pediatric and Adolescent Endocrinology has formulated Clinical Practice Guidelines for newborn screening, diagnosis and management of congenital hypothyroidism (CH). This manuscript, part II addresses management and follow-up. RECOMMENDATIONS: Screening should be done for every newborn using cord blood, or postnatal blood ideally at 48 to 72 h of age. Neonates with screen TSH > 20 mIU/L serum units (or >34 mIU/L for samples taken between 24 and 48 h of age) should be recalled for confirmation...
February 17, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29449777/a-homogeneous-time-resolved-fluorescence-immunoassay-method-for-the-measurement-of-compound-w
#2
Biao Huang, Huixin Yu, Jiandong Bao, Manda Zhang, William L Green, Sing-Yung Wu
Objective: Using compound W (a 3,3'-diiodothyronine sulfate [T 2 S] immuno-crossreactive material)-specific polyclonal antibodies and homogeneous time-resolved fluorescence immunoassay assay techniques (AlphaLISA) to establish an indirect competitive compound W (ICW) quantitative detection method. Method: Photosensitive particles (donor beads) coated with compound W or T 2 S and rabbit anti-W antibody were incubated with biotinylated goat anti-rabbit antibody. This constitutes a detection system with streptavidin-coated acceptor particle...
2018: Biomarker Insights
https://www.readbyqxmd.com/read/29435108/genetic-and-functional-analysis-of-two-missense-duox2-mutations-in-congenital-hypothyroidism-and-goiter
#3
Shiguo Liu, Wenhui Zhang, Liqin Zhang, Hui Zou, Kunna Lu, Qiang Li, Hongfei Xia, Shengli Yan, Xu Ma
Mutations in the dual oxidase 2 gene ( DUOX2 ) impair hydrogen peroxide (H 2 O 2 ) production and cause dyshormonogenesis. In addition, these mutations have been implicated in autosomal recessive congenital hypothyroidism (CH) with goiter. In this study, we identified DUOX2 mutations that were causative for CH and explored the effects of these mutations on DUOX2 function. Blood samples were collected from 10 infants born with CH and goiter to unrelated parents. We extracted genomic DNA and sequenced all exons by polymerase chain reaction direct sequencing...
January 12, 2018: Oncotarget
https://www.readbyqxmd.com/read/29423669/normative-data-of-thyroid-gland-volume-in-south-indian-neonates-and-infants
#4
Sudha Rathna Prabhu, Shriraam Mahadevan, Sujatha Jagadeesh, Dharani Dharan, Chandra Ganesh, Seshadri Suresh, Indrani Suresh
OBJECTIVE: To establish normative ultrasound data for thyroid gland volume in South Indian neonates and infants and compare with abnormal sonological features of thyroid in congenital hypothyroidism (CH) to explore thyroid ultrasound utility as a supportive screening tool to newborn screening programs for early detection of CH. METHODS: In view of impact of geo ethnic factors, varying growth velocities and body mass indices of human population worldwide, specific regional, age and gender related reference data for thyroid gland size and volume are vital...
February 9, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29407438/thyroid-hormone-and-the-white-matter-of-the-central-nervous-system-from-development-to-repair
#5
Laura Calzà, Vito A Baldassarro, Mercedes Fernandez, Alessandro Giuliani, Luca Lorenzini, Luciana Giardino
The role of thyroid hormone (TH) on brain development, and particularly in myelination, is well known since many decades, as testified by the severe structural and functional consequences of congenital hypothyroidism. This role during development, the consideration that the early TH supplementation restores myelination capability, and the fact the cell responsible for developmental myelination and remyelination is the same, i.e., the oligodendrocyte precursor cell (OPC), claimed the attempt to improve myelin repair in the adulthood via TH supplementation...
2018: Vitamins and Hormones
https://www.readbyqxmd.com/read/29406005/neonatal-thyrotoxicosis
#6
REVIEW
Stephanie L Samuels, Sisi M Namoc, Andrew J Bauer
Neonatal thyrotoxicosis (hyperthyroidism) is less prevalent than congenital hypothyroidism; however, it can lead to significant morbidity and mortality if not promptly recognized and adequately treated. Most cases are transient, secondary to maternal autoimmune hyperthyroidism (Graves disease [GD]). This article summarizes recommendations for screening and management of hyperthyroidism in both the fetal and neonatal periods, with a focus on neonatal thyrotoxicosis secondary to maternal GD. Early monitoring and treatment are crucial for optimizing short-term and long-term patient outcomes...
March 2018: Clinics in Perinatology
https://www.readbyqxmd.com/read/29405999/congenital-hypothyroidism
#7
REVIEW
Ari J Wassner
Congenital hypothyroidism is common and can cause severe neurodevelopmental morbidity. Prompt diagnosis and treatment are critical to optimizing long-term outcomes. Universal newborn screening is an important tool for detecting congenital hypothyroidism, but awareness of its limitations, repeated screening in high-risk infants, and a high index of clinical suspicion are needed to ensure that all affected infants are appropriately identified and treated. Careful evaluation will usually reveal the etiology of congenital hypothyroidism, which may inform treatment and prognosis...
March 2018: Clinics in Perinatology
https://www.readbyqxmd.com/read/29402813/low-ft4-concentrations-around-the-start-of-recombinant-human-growth-hormone-treatment-predictor-of-congenital-structural-hypothalamic-pituitary-abnormalities
#8
Laura van Iersel, Hanneke M van Santen, Gladys R J van Zandwijken, Nitash Zwaveling-Soonawala, Anita C S Hokken-Koelega, A S Paul van Trotsenburg
BACKGROUND: Growth hormone (GH) treatment may unmask central hypothyroidism (CeH). This was first observed in children with GH deficiency (GHD), later also in adults with GHD due to acquired "organic" pituitary disease. We hypothesized that newly diagnosed CeH in children after starting GH treatment for nonacquired, apparent isolated GHD points to congenital "organic" pituitary disease. METHODS: Nationwide, retrospective cohort study including all children with nonacquired GHD between 2001 and 2011 in The Netherlands...
January 18, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29380252/newborn-screening-guidelines-for-congenital-hypothyroidism-in-india-recommendations-of-the-indian-society-for-pediatric-and-adolescent-endocrinology-ispae-part-i-screening-and-confirmation-of-diagnosis
#9
M P Desai, R Sharma, I Riaz, S Sudhanshu, R Parikh, V Bhatia
The Indian Society for Pediatric and Adolescent Endocrinology has formulated locally relevant Clinical Practice Guidelines for newborn screening, diagnosis and management of primary congenital hypothyroidism (CH). RECOMMENDATIONS: Screening should be done for every newborn using cord blood, or postnatal blood, ideally at 48 to 72 h of age. On this screen sample, neonates with TSH > 20 mIU/L serum units (or >34 mIU/L for samples taken between 24 to 48 h of age) should be recalled for confirmation...
January 30, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29377458/maternal-thyroid-hormone-is-required-for-parvalbumin-neuron-development-in-the-anterior-hypothalamic-area
#10
Lisbeth Harder, Susi Dudazy-Gralla, Helge Müller-Fielitz, Jens Hjerling Leffler, Björn Vennström, Heike Heuer, Jens Mittag
Thyroid hormone (TH) is crucial for brain development and function. This becomes most evident in untreated congenital hypothyroidism, leading to irreversible mental retardation. Likewise, maternal hypothyroxinemia, a lack of TH during pregnancy, is associated with neurological dysfunction in the offspring such as autism and reduced intellectual capacity. In the brain, TH acts mainly through TH receptor alpha 1 (TRα1). Consequently, mice heterozygous for a dominant-negative mutation in TRα1 display profound neuroanatomical abnormalities including deranged development of parvalbumin neurons...
January 29, 2018: Journal of Neuroendocrinology
https://www.readbyqxmd.com/read/29372437/breast-milk-iodine-concentration-rather-than-maternal-urinary-iodine-is-a-reliable-indicator-for-monitoring-iodine-status-of-breastfed-neonates
#11
Pantea Nazeri, Hosein Dalili, Yadollah Mehrabi, Mehdi Hedayati, Parvin Mirmiran, Fereidoun Azizi
There is no scientific consensus on whether breast milk iodine concentration (BMIC) accurately reflects iodine status in lactating mothers and breastfed infants. This study aimed to compare BMIC and maternal urinary iodine concentration (UIC) as indicators of iodine status in breastfed neonates. In this cross-sectional study, 147 lactating mothers and their neonates (3-5 days postpartum) were randomly selected from health care centers. Breast milk and urine samples were collected from each mother and neonate, and a heel-prick blood sample was taken from all neonates as part of a congenital hypothyroidism screening program...
January 25, 2018: Biological Trace Element Research
https://www.readbyqxmd.com/read/29335451/a-hot-spot-mutation-in-cdc42-p-tyr64cys-and-novel-phenotypes-in-the-third-patient-with-takenouchi-kosaki-syndrome
#12
Midori Motokawa, Satoshi Watanabe, Akiko Nakatomi, Tatsuro Kondoh, Tadashi Matsumoto, Kanako Morifuji, Hirotake Sawada, Toyoki Nishimura, Hiroyuki Nunoi, Koh-Ichiro Yoshiura, Hiroyuki Moriuchi, Sumito Dateki
Takenouchi-Kosaki syndrome (TKS) is a congenital malformation syndrome characterized by severe developmental delay, macrothrombocytopenia, camptodactyly, sensorineural hearing loss, and dysmorphic facial features. Recently, a heterozygous de novo mutation (p.Tyr64Cys) in the CDC42 gene, which encodes a key small GTP-binding protein of the Rho-subfamily, was identified in two unrelated patients with TKS. We herein report a third patient with TKS who had the same heterozygous CDC42 mutation. The phenotype of the patient was very similar to those of the two previously reported patients with TKS; however, she also demonstrated novel clinical manifestations, such as congenital hypothyroidism and immunological disturbance...
January 15, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29335252/diagnostic-reevaluation-of-congenital-hypothyroidism-in-macedonia-predictors-for-transient-or-permanent-hypothyroidism
#13
Nikolina Zdraveska, Maja Zdravkovska, Violeta Anastasovska, Elena Sukarova-Angelovska, Mirjana Kocova
BACKGROUND: Diagnostic re-evaluation is important for all patients with congenital hypothyroidism (CH) for determining the etiology and identifying transient CH cases. Our study is a first thyroxine therapy withdrawal study conducted in Macedonian CH patients for a diagnostic re-evaluation. We aimed to evaluate the etiology of CH, the prevalence of transient CH and identify predictive factors for distinguishing between permanent (PCH) and transient CH (TCH). MATERIAL AND METHODS: Patients with CH aged > 3 years underwent a trial of treatment withdrawal for 4 weeks period...
January 15, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29330744/c-fos-downregulation-positively-regulates-epha5-expression-in-a-congenital-hypothyroidism-rat-model
#14
Honghua Song, Yuqin Zheng, Fuying Cai, Yanyan Ma, Jingyue Yang, Youjia Wu
The EphA5 receptor is well established as an axon guidance molecule during neural system development and plays an important role in dendritic spine formation and synaptogenesis. Our previous study has showed that EphA5 is decreased in the developing brain of congenital hypothyroidism (CH) and the EphA5 promoter methylation modification participates in its decrease. c-Fos, a well-kown transcription factor, has been considered in association with brain development. Bioinformatics analysis showed that the EphA5 promoter region contained five putative c-fos binding sites...
January 12, 2018: Journal of Molecular Histology
https://www.readbyqxmd.com/read/29326865/rectal-atresia-and-congenital-hypothyroidism-an-association-or-coincidence
#15
Feride Mehmetoğlu
Rectal atresia is a rare anorectal malformation, and its association with other anomalies is even more rare. This study presents a unique case of co-twin in which the surviving newborn male underwent surgery due to rectal atresia. Newborn screening tests identified congenital hypothyroidism. The surgical treatment consisted of three stages and thyroid hormones were replaced.
January 2018: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/29325045/mean-high-dose-l-thyroxine-treatment-is-efficient-and-safe-to-achieve-a-normal-iq-in-young-adult-patients-with-congenital-hypothyroidism
#16
Paulina Aleksander, Michaela Brückner-Spieler, Anne-Marie Stöhr, Erwin Lankes, Peter Kühnen, Dirk Schnabel, Andrea Ernert, Walter Stäblein, Maria E Craig, Oliver Blankenstein, Annette Grüters, Heiko Krude
Context: The optimal levothyroxine (LT4) dose required to treat congenital hypothyroidism (CH) remains unclear, with a debate if higher starting doses (>10µg/kg) are necessary and safe for normal Intelligence Quotient (IQ). Objective: To examine the psychomotor, metabolic and quality of life outcome in patients with CH treated with a mean high initial LT4 dose. Design, settings, participants: A cross- sectional cohort study of CH patients identified in the Berlin newborn screening programme from 1979-2003...
January 9, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29319359/secondary-and-tertiary-preventions-of-thyroid-disease
#17
Fereidoun Azizi, Ladan Mehran, Farhad Hosseinpanah, Hossein Delshad, Atieh Amouzegar
INTRODUCTION: Secondary and tertiary preventions are concerned with the recognition of the disease process in a very early stage and delay in progression to complete disease and minimization of complications and the impact of illness. METHODS: All articles related to secondary and tertiary prevention of thyroid diseases were reviewed. Using related key words, articles published between 2001 and 2015 were evaluated, categorized, and analyzed. RESULTS: In secondary prevention, congenital hypothyroidism and subclinical hypo and hyperthyroidism are equally important...
January 10, 2018: Endocrine Research
https://www.readbyqxmd.com/read/29289388/l-thyroxine-responsive-drop-attacks-in-childhood-benign-hereditary-chorea-a-case-report
#18
Tadashi Shiohama, Hirofumi Ohashi, Kenji Shimizu, Katsunori Fujii, Daiju Oba, Tomozumi Takatani, Mitsuhiro Kato, Naoki Shimojo
Benign hereditary chorea (BHC) is a rare autosomal dominant disease that is characterized by non-progressive chorea with early-childhood-onset, congenital hypothyroidism, and neonatal respiratory distress. Although tetrabenazine and levodopa are partly effective for chorea and drop attacks in some patients, there is no standard treatment option. We herein describe a childhood case of BHC that presented with l-thyroxine-responsive drop attacks. A genetic analysis revealed an interstitial deletion that included two enhancer regions of NKX2-1, providing genetic confirmation of BHC...
December 27, 2017: Brain & Development
https://www.readbyqxmd.com/read/29246344/newborn-screening-in-the-us-may-miss-mild-persistent-hypothyroidism
#19
Marissa J Kilberg, Irit R Rasooly, Stephen H LaFranchi, Andrew J Bauer, Colin P Hawkes
OBJECTIVE: To determine if newborn screening (NBS) programs for congenital hypothyroidism in the US use thyroid-stimulating hormone (TSH) cutoffs that are age adjusted to account for the physiologic 4-fold reduction in TSH concentrations over the first few days of life. STUDY DESIGN: All NBS programs in the US were contacted and asked to provide information on their NBS protocols, TSH cutoffs, and whether these cutoffs were age adjusted. RESULTS: Of 51 NBS programs, 28 request a repeat specimen if the initial eluted serum TSH concentration is mildly increased (between the cutoff and a median upper limit of 50 mU/L), whereas 14 programs perform a routine second screen in all infants...
January 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29238947/-thyroid-ectopy-diagnostic-and-therapeutic-challenges-before-and-in-the-era-of-tsh-neonatal-screening
#20
Ewelina Szczepanek-Parulska, Aleksandra Hernik, Marek Ruchała
Despite TSH screening in newborns is currently conducted in most developed countries, patients with thyroid ectopy born before the procedure was introduced or those in whom the screening failed to establish diagnosis, might still appear. In the paper we revise the current state of knowledge regarding the clinical presentation, diagnosis and treatment of patients with thyroid ectopy. As an example, we report diagnostic and therapeutic difficulties in our three patients with thyroid ectopy remaining undiagnosed and untreated during early childhood...
2017: Endokrynologia Polska
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