Search results for "thyroid"

showing 10 items of 803 documents

Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.

2002

Isolated TSH deficiency as a cause for congenital hypothyroidism is relatively uncommon. Even more rare is the identification of mutations in the TSHβ gene, only four of which have been identified. We here report a 4-month-old girl with isolated TSH deficiency born to consanguineous parents. Sequencing of the TSHβ-subunit gene revealed a homozygous G to A transition at position +5 of the donor splice site of intron 2. TSHβ gene transcript could not be obtained from fibroblasts or white blood cells by illegitimate amplification. Thus, to investigate further the mechanism leading to TSH deficiency in this patient, we used an in vitro exon-trapping system. The mutation at position +5 of the do…

medicine.medical_specialtyEndocrinology Diabetes and MetabolismClinical BiochemistryThyrotropinBiologymedicine.disease_causeBiochemistryExonConsanguinityEndocrinologyInternal medicinemedicineCongenital HypothyroidismMissense mutationHumansspliceRNA MessengerGeneGeneticsMutationSplice site mutationBiochemistry (medical)IntronInfantExonsExon skippingEndocrinologyMutationFemaleRNA Splice SitesThe Journal of clinical endocrinology and metabolism
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Maintenance of iodine intake

2013

Dietary iodine status is routinely assessed by measuring urinary iodine excretion (UI). In most European countries iodine intake is maintained at WHO recommended levels by iodisation of table salt [1]. Exceptions to this practice include Ireland and the UK where only 5% (approximately) of table salt sold is iodine supplemented. However despite the finding of relatively low median UI values in study populations in both Ireland and the UK [2-4] there is little evidence of an increased prevalence of hypothyroidism, overt or subclinical, of non autoimmune pathogenesis [5-8]. In this communication studies on iodine status in the Irish population over the years 1988-2007 are reviewed, as are inve…

medicine.medical_specialtyEndocrinology Diabetes and MetabolismPopulationIodidechemistry.chemical_elementIodineEndocrinologyAnimal scienceInternal medicinemedicineIodide transporteducationchemistry.chemical_classificationeducation.field_of_studyEndocrine and Autonomic Systemsbusiness.industryThyroidmedicine.diseaseIodine deficiencyIodised saltEndocrinologymedicine.anatomical_structurechemistryMeeting AbstractDietary IodinebusinessThyroid Research
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Vitamin D status and hypercholesterolemia in Spanish general population.

2013

Low serum 25-hydroxyvitamin D [25(OH)D] levels have been associated with increased prevalence of cardiovascular diseases. A possible relation between lipids and 25(OH)D might explain this association. This investigation aimed to determine the association between vitamin D and cholesterol, as well as the influence of statins on this association. This was a cross-sectional population-based study with 177 subjects aged 18-84 years. We collected demographics and data on sun exposure, sun protection habits, current medication including lipid-lowering drugs, and estimated vitamin D intake. Serum measurements included levels of 25(OH)D, parathyroid hormone (PTH), calcium, phosphorus, total cholest…

medicine.medical_specialtyEndocrinology Diabetes and MetabolismPopulationchemistry.chemical_elementParathyroid hormonevitamin DDermatologyCalciumstatinsFasting glucoselipidschemistry.chemical_compoundInternal medicineReportVitamin D and neurologyMedicineeducationLdl cholesteroleducation.field_of_studyCholesterolbusiness.industrycholesterol25-hydroxyvitamin DEndocrinologychemistryLDL cholesterollipids (amino acids peptides and proteins)businessLipoproteinDermato-endocrinology
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Comparison between Minimally Invasive Video-Assisted Thyroidectomy and Conventional Thyroidectomy: Is There Any Evidence-Based Information?

2008

The aim of this study was to test the hypothesis that minimally invasive video-assisted thyroidectomy (MIVAT) affords comparable safety and efficacy as to the open conventional surgery in dealing with patients with small thyroid nodules.Randomized controlled trials comparing the MIVAT with open thyroidectomy were ascertained by methodical search using Medline, Embase, Pubmed, and The Cochrane Library. Primary meta-analysis outcomes were adverse events (laryngeal nerve palsy and hypoparathyroidism), and cosmesis and secondary outcomes were operative time, blood loss, and early and late postoperative pain.Operative time was significantly less with open thyroidectomy than with MIVAT, while MIV…

medicine.medical_specialtyEvidence-based practiceHypoparathyroidismEndocrinology Diabetes and Metabolismmedicine.medical_treatmentConventional surgeryTreatment outcomeMEDLINEVideo-Assisted SurgeryEndocrinologymedicineHumansMinimally Invasive Surgical ProceduresThyroid NoduleRandomized Controlled Trials as TopicPain PostoperativeEvidence-Based Medicinebusiness.industryThyroidectomyEvidence-based medicineSurgeryVideo assisted thyroidectomyTreatment OutcomeMeta-analysisThyroidectomybusinessVocal Cord ParalysisThyroid
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A 2013 European survey of clinical practice patterns in the management of Graves' disease

2014

SummaryObjective Management of Graves' disease (GD) in Europe was published in 1987. Aim of this survey was to provide an update on clinical practice in Europe, and to compare it with a 2011 American survey. Design Members of the European Thyroid Association (ETA) were asked to participate in a survey on management of GD, using the same questionnaire of a recent American survey. Results A total of 147 ETA members participated. In addition to serum TSH and free T4 assays, most respondents would request TSH-receptor autoantibody (TRAb) measurement (85·6%) and thyroid ultrasound (70·6%) to confirm aetiology, while isotopic studies were selected by 37·7%. Antithyroid drug (ATD) therapy was the …

medicine.medical_specialtyExacerbationEndocrinology Diabetes and MetabolismGraves' diseaseThyrotropin030209 endocrinology & metabolismTrabDisease03 medical and health sciences0302 clinical medicineEndocrinologyAntithyroid AgentsPregnancySurveys and QuestionnairesInternal medicinemedicineHumansPractice Patterns Physicians'AutoantibodiesPregnancyMethimazolebusiness.industryThyroidReceptors Thyrotropinmedicine.diseaseGraves DiseaseEuropePregnancy ComplicationsThyroxineEndocrinologymedicine.anatomical_structurePropylthiouracil030220 oncology & carcinogenesisNorth AmericaEtiologyFemalePropylthiouracilbusinessmedicine.drugClinical Endocrinology
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Eye Muscle Antibodies in Endocrine Exophthalmos

1989

Serum samples were obtained from 65 patients with endocrine exophthalmos class I-V. In 33/65 patients who were treated either with prednisone or with ciclosporin, blood was sampled before, during and after therapy. Antibodies against eye muscle were determined during the course of immunosuppressive therapy in order to have an objective parameter of the therapeutic effect. To ascertain the specificity of the reaction both eye and abdominal muscles were used as antigens in an ELISA system. Both IgG and IgM antibodies were detected. In 45/65 patients (71%) eye muscle antibodies were positive before starting therapy. Antibodies were mostly detected in patients with active disease. Patients with…

medicine.medical_specialtyExophthalmosEndocrinology Diabetes and Metabolismmedicine.medical_treatmentClinical BiochemistryBiochemistrySerologyEndocrinologyAntigenInternal medicinemedicinebiologybusiness.industryBiochemistry (medical)ThyroidRadioimmunoassayGeneral MedicineEndocrinologymedicine.anatomical_structureImmunologybiology.proteinThyroglobulinThyroid functionmedicine.symptomAntibodybusinessHormone and Metabolic Research
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Improvement of asymmetric thyroid eye disease with teprotumumab

2021

PurposeTeprotumumab, a specific blocking antibody to the insulin like growth factor 1 receptor, significantly reduced proptosis in patients with thyroid eye disease (TED) in recent clinical trials. Given its specificity, we expect it to demonstrate greater efficacy on the worse affected orbit, in patients with asymmetric TED. Herein, we investigate the differential impact of teprotumumab on the orbits of such patients.MethodsIn this pooled analysis of patients who were enrolled in the recent phase 2 (NCT01868997) and phase 3 (NCT03298867) trials, all patients with asymmetric TED (difference in exophthalmometry of ≥3 mm) were screened for eligibility. The primary outcomes of the trials, prop…

medicine.medical_specialtyEye disease030209 endocrinology & metabolismAntibodies Monoclonal HumanizedPlacebo03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineInternal medicineBlocking antibodyDiplopiamedicineExophthalmosHumansDifferential impactDiplopiabusiness.industryThyroidmedicine.diseaseeye diseasesSensory SystemsGraves OphthalmopathyClinical trialOphthalmologyPooled analysismedicine.anatomical_structure030221 ophthalmology & optometrymedicine.symptombusinessBritish Journal of Ophthalmology
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Potential involvement of fas and its ligand in the pathogenesis of Hashimoto's thyroiditis

1997

The mechanisms responsible for thyrocyte destruction in Hashimoto's thyroiditis (HT) are poorly understood. Thyrocytes from HT glands, but not from nonautoimmune thyroids, expressed Fas. Interleukin-1β (IL-1β), abundantly produced in HT glands, induced Fas expression in normal thyrocytes, and cross-linking of Fas resulted in massive thyrocyte apoptosis. The ligand for Fas (FasL) was shown to be constitutively expressed both in normal and HT thyrocytes and was able to kill Fas-sensitive targets. Exposure to IL-1β induced thyrocyte apoptosis, which was prevented by antibodies that block Fas, suggesting that IL-1β-induced Fas expression serves as a limiting factor for thyrocyte destruction. Th…

medicine.medical_specialtyFas Ligand Proteinmedicine.medical_treatmentThyroid GlandApoptosisPolymerase Chain ReactionThyroiditisFas ligandPathogenesisImmunoenzyme TechniquesInternal medicinemedicineTumor Cells CulturedHumansRNA Messengerfas ReceptorCells CulturedNucleic Acid Synthesis InhibitorsProtein Synthesis InhibitorsMultidisciplinaryMembrane GlycoproteinsChemistryThyroidThyroiditis AutoimmuneInterleukinAntibodies Monoclonalmedicine.diseaseFas receptorRecombinant ProteinsCytokinemedicine.anatomical_structureEndocrinologyApoptosisCytokinesInterleukin-1
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ENDOCRINOLOGY IN PREGNANCY: Bone metabolic changes during pregnancy: a period of vulnerability to osteoporosis and fracture

2015

Changes in bone density and bone markers suggest that pregnancy is associated with deterioration of bone mass in the mother. The metabolism of calcium resets to allow for the needs imposed by the building of the fetal skeleton. The fetus contributes to the process through the output of regulators from the placenta. Understanding of the whole process is limited, but some changes are unambiguous. There is an increase in the circulating levels of vitamin D, but its functional impact is unclear. Fetal parathyroid hormone (PTH) and PTH-related peptide (PTHrp) play an indirect role through support of a calcium gradient that creates hypercalcemia in the fetus. Placental GH, which increases up to t…

medicine.medical_specialtyFetusPregnancyBone densitybusiness.industryEndocrinology Diabetes and MetabolismOsteoporosisParathyroid hormoneGeneral Medicinemedicine.diseaseBone resorptionBone remodelingEndocrinologyEndocrinologyOsteoprotegerinInternal medicinemedicinebusinessEuropean Journal of Endocrinology
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Radiation exposure to the hands and the thyroid of the surgeon during intramedullary nailing.

1998

Abstract During 41 procedures of intramedullary nailing of femoral and tibial fractures, the primary surgeon and the first assistant wore ring dosimeters on their dominant index fingers. While the average fluoroscopy time per procedure was 4.6 min, the average dose of radiation to the dominant hand of the primary surgeon was 1.27 mSv and 1.19 mSv to the first assistant. The dose limit for the extremities is 500 mSv per year, as recommended by the International Commission on Radiological Protection. Extrapolation of the mean dose of the primary surgeon and first assistent per procedure of 1.23 mSv leads to the result that the recommended dose limit of 500 mSv would only be exceeded if more t…

medicine.medical_specialtyFilm DosimetryThyroid GlandWorkloadIonizing radiationlaw.inventionIntramedullary rodIntraoperative PeriodRadiation ProtectionlawOccupational ExposuremedicineFluoroscopyHumansFemurTibiaFemurRadiation InjuriesOccupational HealthGeneral Environmental ScienceDosimetermedicine.diagnostic_testTibiabusiness.industryPhantoms ImagingHandFracture Fixation IntramedullaryTibial FracturesOrthopedicsRadiological weaponFluoroscopyOrthopedic surgeryGeneral Earth and Planetary SciencesbusinessNuclear medicineFemoral FracturesInjury
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