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  • Congenital Hypothyroidism

    Abstract The aim of this study was to identify the genetic defect of a patient with dyshormonogenetic congenital hypothyroidisms (CH) with total iodide organification defect[] CH is most often caused by defects in thyroid development leading to thyroid dysgenesis.[] BACKGROUND: Iodide transport defects (ITDs), rare causes of congenital hypothyroidism (CH), have been shown to arise from abnormalities of the sodium/iodide symporter (NIS[] A total of 3,900, 3,991, and 4,050 live births occurred in 2012, 2013, and 2014, respectively.[] METHODS: In the child with the organification defect, TPO, DUOX2, and DUOXA2 genes were analyzed.[]

    Missing: TYR453ASP
  • Metabolic Alkalosis

    […] as 43.2 34.19 mg/kg/day (a total of 647.70 mg/kg in 15 days).[] INTRODUCTION: Pendred syndrome, a combination of sensorineural deafness, impaired organification of iodide in the thyroid and goitre, results from biallelic defects in pendrin[] The defect associated with CF is in the cystic fibrosis transmembrane regulator (CFTR), which acts primarily as a chloride channel.[] J David Erickson, DDS, Birth Defects and Genetic Diseases Br, Div of Birth Defects and Developmental Disabilities, National Center for Environmental Health; Jose Cordero,[] RESULTS: A total of 51 patients were included in the study. The time of rising serum sodium and hypernatremia was accompanied by metabolic alkalosis.[]

    Missing: TYR453ASP
  • Nontoxic Goiter

    BACKGROUND: Total thyroidectomy for treatment of Graves' disease is controversial and much of the debate centers on the concern for complications.[] These findings suggest the correlation of an iodide organification defect with a cytochrome b5 reductase deficiency.[] […] oxidase defect; deiodinase deficiency; coupling defect; and an abnormality . . .[] Transforming growth factor beta protein secretion by cultured thyroid follicular cells was also low in nontoxic goiter, but could be increased by addition of sodium iodide[] Polosa P. 1978 45 Nontoxic goiter-diffuse or nodular. ( 1174255 ) Maloof F....Vickery A.L. 1975 46 Deficient cytochrome b5 reductase activity in nontoxic goiter with iodide organification[]

    Missing: TYR453ASP
  • Thyrotropin

    RESULTS: Postmenopausal women had lower serum TSH concentrations and higher levels of total cholesterol, low-density lipoprotein cholesterol (LDLc), high-density lipoprotein[] This implies that some pendrin mutations may involve direct stimulation of thyroid cell proliferation with no TSH hyperstimulation and no iodine organification defect.[] Conceptually, defects leading to RTSH impair both aspects of TSH-mediated action, namely thyroid hormone synthesis and gland growth.[] TSH/IGF-1 co-treatment elicited additive effects on thyroglobulin (TG), thyroperoxidase (TPO), and deiodinase type 2 (DIO2) mRNA levels but synergistic effects on sodium-iodide[] […] significantly higher 2-h radioiodide uptake and 2- to 24-h radioiodide uptake ratios compared with heterozygous, unaffected family members, suggesting an imbalance between iodide[]

    Missing: TYR453ASP
  • Pendred's Syndrome

    Although the serum total T4 was low (2.4 mug/100 ml) and TSH was significantly high (181 muU/ml), the serum total T3 was normal (152 ng/100ml).[] Although Pendred's syndrome may cause up to 7.5% of all cases of congenital deafness, the molecular basis of the association between the hearing loss and the thyroid organification[] In these patients we could not demonstrate any of the well-established biochemical defects associated with familial goiter.[] Goiter development and development of hypothyroidism are variable and depend on nutritional iodide intake.[] The serum total thyroxine and serum total triiodothyronine concentrations were normal in 8, of whom 3 had elevated serum TSH concentrations.[]

    Missing: TYR453ASP
  • Methimazole

    Laboratory data showed total serum insulin level 320 microU/mL, free insulin 55 microU/mL and insulin antibody 88.3%.[] Compounds, Pharmaceuticals, Intermediates & Fine Chemicals, Boiling Point: No Data Available Applications: Methimazole is a thiourea antithyroid agent that prevents iodine organification[] The defect of the scalp was well healed after 6 weeks, but the skull defect remained unclosed.[] Flashcards in Sketchy Pharm: Propylthiouracil, Methimazole, and Levothyroxine Deck (18): Iodide enters the follicular cells through ______________ channels. sodium/iodide[] Irinotecan pharmacokinetics and side effects were followed during a total of four courses (two courses with and two courses without methimazole).[]

    Missing: TYR453ASP
  • Low Sodium Diet

    A total of 56 patients (72.7%) completed the study, 26 on a low-sodium diet (LD) and 30 on their usual diet (UD).[] CONCLUSIONS: These studies indicate that a low-sodium diet corrects the defect in both vascular and lymphocyte beta-adrenergic responsiveness with aging.[] […] low-sodium diet a diet that limits the intake of salt sodium iodide a crystalline salt used like potassium iodide closed-minded not ready to receive to new ideas low-salt[] METHODS: A total of 254 patients (57% male, 62 14 years, 52% New York Heart Association class III/IV, ejection fraction of 36% 14%) were recruited from outpatient HF clinics[] Dietary sodium may be an important factor in the beta-receptor defect in early hypertension.[]

  • Hypothyroidism

    A total of 9 studies were selected, totalizing the inclusion of 1,537 euthyroid PCOS and 301 SCH-PCOS.[] Excess iodine, as in radiocontrast dyes, amiodarone, health tonics (herbal and dietary supplements), and seaweed, can transiently inhibit iodide organification and thyroid[] CONCLUSIONS: This study, including the identification of a second, novel, TSHB deletion, expands the molecular spectrum of TSHB defects and suggests that allele loss may be[] Whatever the underlying cause may be, the defect is clearly centred on the gland itself.[] There was no difference between total cholesterol, triglyceride, and low-density lipoprotein levels in SHT patients and controls.[]

    Missing: TYR453ASP
  • Calcitonin

    Primary objective of this study was to find the change in calcitonin in the postoperative period after total thyroidectomy.[] […] iodine molecules are attached to the tyrosyl residues of tyroglobuline in the process of iodination of tyrosine ( organification ).[] METHODS: We conducted the calcium stimulation test using ECLIA in 21 men with non-medullary thyroid carcinoma (non-MTC), before and after total thyroidectomy.[] METHODS: IFFP and synovial (SYN) tissues were harvested from 100 individuals with radiographic knee OA (unilateral Kellgren/Lawrence [K/L] grades 2-4) during total knee arthroplasty[] One hundred adult patients undergoing total thyroidectomy, with at least three parathyroids being preserved were included.[]

    Missing: DEFECT TYR453ASP
  • Postpartum Thyroiditis

    RESULTS: Titers of total TPOAb and its IgG subtypes were lowest before delivery in PPT patients. Following delivery, titers of total TPOAb increased.[] We have studied 11 euthyroid women with a previous history of PPT to determine the incidence of subtle defects in thyroid function measured by iodide-perchlorate (I-ClO4)[] […] patients iodide may aggravate rather than ameliorate the disease.[] Abstract Unreliable estimates of serum total T3 due to the presence of autoantibodies against T3 were observed in a woman who developed thyrotoxicosis followed by transient[] […] symptoms and disorientation related to a postpartum thyroiditis in a woman with a pre-existing mood disorder; or (4) both psychosis and thyroiditis caused by a pre-existing defect[]

    Missing: TYR453ASP