Search results for "Endocrine System"

showing 10 items of 1530 documents

A new germline mutation in BRCA1 gene in a sicilian family with ovarian cancer

2005

A group of 103 sicilian patients with hereditary and familiar breast and/or ovarian cancer were screened for Breast Cancer 1 gene (BRCA1) mutations by direct sequencing PCR products spanning the coding region and partial intronic regions of the BRCA1 gene. In this study, we report a new germline mutation in BRCA1 gene, not previously reported in the BIC database, in a woman with ovarian cancer at 46 years old. Mother's proband has been diagnosed the same histotype of ovarian cancer at 42 age. The mutational analyses that shown a 4843delC frameshift mutation in exon 16 of BRCA1 gene was extended to other family members including the proband's brother and her two sons. Direct automatic sequen…

AdultMaleProbandcongenital hereditary and neonatal diseases and abnormalitiesCancer Researchendocrine system diseasesGenetic counselingCystadenocarcinomaGenes BRCA1BiologyFrameshift mutationExonGermline mutationBreast cancermedicineHumansGenetic Predisposition to DiseaseFrameshift MutationSicilyGerm-Line MutationOvarian NeoplasmsBRCA1 Direct automatic sequencing Germline mutation Ovarian cancerGeneticsMiddle Agedmedicine.diseasePedigreeOncologyMutation (genetic algorithm)Cancer researchFemaleOvarian cancerBreast Cancer Research and Treatment
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Fine-Needle Aspiration (FNAB) Molecular Analysis for the Diagnosis of Papillary Thyroid Carcinoma through BRAFv600E mutation and RET/PTC rearrangement

2007

Objective: To evaluate BRAFV600E mutation on consecutive fine-needle aspiration biopsy (FNAB) specimens in order to assess FNAB’s usefulness in preoperative papillary thyroid carcinoma (PTC) diagnosis with the contemporaneous analysis of RET=PTC1 and RET=PTC3 rearrangements obtained from ex vivo thyroid nodules. Design: Thyroid FNABs from 156 subjects with nodules and 49 corresponding surgical samples were examined for the presence of BRAF mutation by real-time allele-specific polymerase chain reaction, confirmed with the use of a laser pressure catapulting system. Samples were also examined for RET=PTC rearrangements. The results were compared with the cytological diagnosis and histopathol…

AdultMaleProto-Oncogene Proteins B-rafPathologymedicine.medical_specialtyendocrine system diseasesEndocrinology Diabetes and MetabolismBiopsyBiopsy Fine-NeedlePapillarySettore MED/08 - Anatomia PatologicaRET/PTCSettore MED/13 - EndocrinologiaThyroid carcinomaCohort StudiesEndocrinologyPredictive Value of TestsBiopsyCarcinomamedicine80 and overHumansThyroid NeoplasmsAgedRET/PTC RearrangementAged 80 and overGene Rearrangementmedicine.diagnostic_testbusiness.industryCarcinomaProto-Oncogene Proteins c-retGene rearrangementMiddle Agedmedicine.diseaseCarcinoma PapillaryAdult; Aged; 80 and over; Amino Acid Substitution; Biopsy; Fine-Needle; Carcinoma; Papillary; Cohort Studies; Female; Gene Rearrangement; Humans; Male; Middle Aged; Predictive Value of Tests; Proto-Oncogene Proteins B-raf; Proto-Oncogene Proteins c-ret; Thyroid NeoplasmsBrafBRAF V600EFine-needle aspirationAmino Acid SubstitutionMutation (genetic algorithm)Fine-NeedleFemalebusiness
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Increased expression of the homeostatic chemokines CCL19 and CCL21 in clinical and experimental Rickettsia conorii infection

2013

Background: Based on their essential role in concerting immunological and inflammatory responses we hypothesized that the homeostatic chemokines CCL19 and CCL21 may play a pathogenic role in rickettsiae infection. Methods: Serum levels of CCL19 and CCL21 in patients with R. africae and R. conorii infection were analyzed by enzyme immunoassays. Lungs from R. conorii infected mice were examined for CCL19, CCL21 and CCR7 expression by immunohistochemistry. Results: We found that patients with R. africae infection (n = 15) and in particular those with R. conorii infection (n = 16) had elevated serum levels of CCL19 on admission, with a decline during follow-up. While a similar pattern was seen …

AdultMaleReceptors CCR7Chemokineendocrine systemR. africaeInflammationC-C chemokine receptor type 7ImmunofluorescencePathogenesisMiceYoung AdultmedicineAnimalsHomeostasisHumansAgedInflammationMice Inbred C3HR. conoriiChemokine CCL21biologymedicine.diagnostic_testCCL19Rickettsia InfectionsMiddle Agedbiology.organism_classificationUp-RegulationRickettsia conoriiInfectious DiseasesImmunologybiology.proteinChemokine CCL19FemaleChemokinesmedicine.symptomRickettsia conoriiImmunostainingResearch ArticleCCR7
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The effect of an 1100 km run on testicular, adrenal and thyroid hormones

1984

Although endocrine effects of physical or psychological stress are well documented, it is not known to what extent adaptation to prolonged exertion occurs. We therefore investigated the impact of an 1100 km run of 20 days' duration on selected pituitary, testicular, adrenal and thyroid hormones. Blood samples were obtained from five male athletes prior to and after the day's run on the 1st, 5th, 9th, 14th and 19th day. Results show that adrenal and thyroid function soon adapt to the daily strain. Testosterone levels, however, were markedly decreased throughout the 20 days while LH levels remained unchanged. Thus it appears that the reproductive endocrine system is more susceptible to long-t…

AdultMaleThyroid Hormonesmedicine.medical_specialtyHydrocortisoneUrologyEndocrinology Diabetes and MetabolismPhysical ExertionRunningchemistry.chemical_compoundDehydroepiandrosterone sulfateAdrenal Cortex HormonesStress PhysiologicalInternal medicinemedicineHumansEndocrine systemTestosteroneTesticular HormonesTestosteroneHydrocortisoneDehydroepiandrosterone Sulfatebusiness.industryThyroidDehydroepiandrosteroneLuteinizing HormoneProlactinTesticular HormonesThyroxineEndocrinologymedicine.anatomical_structureReproductive MedicinechemistryThyroid functionbusinessGlucocorticoidmedicine.drugInternational Journal of Andrology
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Survey of autoantibody responses against tumor-associated antigens in thyroid cancer

2014

Background Autoantibodies against tumor-associated antigens (TAAs) have been shown to serve as highly specific serological biomarkers for the diagnosis of various solid cancers. Although the autoimmunity against thyroid tissue specific antigens has been studied extensively, so far, the autoantibody responses against common TAAs such as cancer-testis antigens (CTAs), mutated or differentiation antigens have not been comprehensively analyzed in patients with thyroid cancer. Objective The current study aims to characterize the frequency of autoantibody responses against common TAAs in patients with thyroid cancer and benign thyroid nodules. Methods A phage-displayed antigen microarray comprisi…

AdultMaleThyroid nodulesendocrine systemCancer ResearchLung Neoplasmsendocrine system diseasesBreast NeoplasmsYoung AdultBreast cancerAntigenAntigens NeoplasmBiomarkers TumorGeneticsmedicineHumansThyroid NeoplasmsLung cancerMelanomaThyroid cancerAgedAutoantibodiesAged 80 and overbusiness.industryThyroidAutoantibodyGeneral MedicineMiddle Agedmedicine.diseasemedicine.anatomical_structureOncologyCase-Control StudiesImmunologyCancer/testis antigensFemalebusinessCancer Biomarkers
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EchoScopy in scanning abdominal diseases: initial clinical experience.

2014

Background and Aims: The introduction of a new type of small handheld ultrasound device brings greater portability and affordability. The basic ultrasound approach with these handheld devices has been defined by European Federation of Societies of Ultrasound in Medicine and Biology (EFSUMB) as “EchoScopy”. The current study aimed to assess the image quality, indications and limitations of a portable pocket “EchoScope” compared with a high-end ultrasound system in abdominal diseases. Methods: 231 consecutive patients were included in this study. Physician A performed ultrasound examinations with a high-end ultrasound system (HEUS), then physician B performed the same ultrasound examination u…

AdultMaleUrologic Diseasesmedicine.medical_specialtyAdolescentImage qualityDigestive System DiseasesPilot ProjectsEndocrine System DiseasesSensitivity and SpecificityLesionYoung AdultVascularityAscitesAbdomenMedicineHumansUltrasonography Doppler ColorProspective cohort studyChildPathologicalHydronephrosisAgedAged 80 and overMiniaturizationbusiness.industryUltrasoundGastroenterologyReproducibility of ResultsEquipment DesignMiddle Agedmedicine.diseaseEquipment Failure AnalysisCardiovascular DiseasesFemaleRadiologymedicine.symptombusinessZeitschrift fur Gastroenterologie
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Inverse regulation of vascular endothelial growth factor and VHL tumor suppressor gene in sporadic renal cell carcinomas is correlated with vascular …

1999

Tumors associated with the VHL (von Hippel-Lindau) disease, such as hemangioblastomas and renal carcinomas and their sporadic counterparts, are cystic and well vascularized. Mutations of the VHL tumor-suppressor gene and elevated levels of vascular endothelial growth factor (VEGF) have been described in these tumors. The upregulation of VEGF has been shown in vitro as a consequence of alteration of the VHL gene. No comprehensive in vivo analysis has yet been carried out of the factors affecting tumor growth, vascularization, VEGF, and VHL expression. We performed immunohistochemistry and mRNA studies on primary sporadic renal carcinomas and matching normal renal tissue. We semiquantitativel…

AdultMaleVascular Endothelial Growth Factor APathologymedicine.medical_specialtyendocrine system diseasesTumor suppressor geneAngiogenesisUbiquitin-Protein LigasesEndothelial Growth FactorsBiologyurologic and male genital diseasesmedicine.disease_causeLigaseschemistry.chemical_compoundDrug DiscoverymedicineHumansGenes Tumor SuppressorCarcinoma Renal CellGenetics (clinical)AgedLymphokinesKidneyNeovascularization PathologicVascular Endothelial Growth FactorsTumor Suppressor ProteinsProteinsMiddle Agedmedicine.diseaseKidney Neoplasmsfemale genital diseases and pregnancy complicationsGene Expression Regulation NeoplasticVascular endothelial growth factorVascular endothelial growth factor AClear cell renal cell carcinomamedicine.anatomical_structurechemistryVon Hippel-Lindau Tumor Suppressor ProteinMolecular MedicineFemaleCarcinogenesisClear cellJournal of Molecular Medicine
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Novel rearrangements involving the RET gene in papillary thyroid carcinoma.

2018

Abstract Background In the field of gene fusions driving tumorigenesis in papillary thyroid carcinoma (PTC), rearrangement of the proto-oncogene RET is the most frequent alteration. Apart from the most common rearrangement of RET to CCDC6, more than 15 partner genes are yet reported. The landscape of RET rearrangements in PTC (“RET-PTC”) can notably be enlarged by modern targeted next-generation sequencing, indicating similarities between oncogenic pathways in other cancer types with identical genetic alterations. Methods Targeted next-generation sequencing was performed for two cases of BRAF-wild type PTC with confirmation of the results by Sanger sequencing. A “UniProt” database research …

AdultMalecongenital hereditary and neonatal diseases and abnormalitiesendocrine systemCancer Researchendocrine system diseasesOncogene Proteins FusionBiologyRUN domainmedicine.disease_causeProto-Oncogene MasFusion gene03 medical and health sciencessymbols.namesake0302 clinical medicineGeneticsmedicineHumansThyroid NeoplasmsneoplasmsMolecular BiologyGeneSanger sequencingGene RearrangementProto-Oncogene Proteins c-retIntracellular Signaling Peptides and ProteinsCancerHigh-Throughput Nucleotide SequencingNuclear ProteinsProtein-Tyrosine Kinasesmedicine.diseaseLisH domainThyroid Cancer Papillary030220 oncology & carcinogenesisCancer researchsymbolsFemaleCarcinogenesisCarrier ProteinsTyrosine kinaseCancer genetics
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Thyroid function and release of thyroid-stimulating hormone and prolactin from the pituitary in human obesity

1991

Thyroid function, basal serum thyroid-stimulating hormone (TSH) and prolactin concentrations, and the effects of 200 micrograms TSH-releasing hormone (TRH) given intravenously on TSH (delta TSH) and prolactin (delta prolactin) were investigated in 25 euthyroid obese subjects and 20 lean controls. No significant differences in serum thyroid hormone concentrations, glucose metabolism parameters, or basal TSH and prolactin concentrations were detected between groups, but a significant (P less than 0.01) increase in delta TSH and a significant (P less than 0.01) decrease in delta prolactin were observed in obese subjects. No significant differences in basal TSH and prolactin were observed in ob…

AdultMaleendocrine system030213 general clinical medicinemedicine.medical_specialtyTime Factorsendocrine system diseasesThyroid GlandThyrotropin030209 endocrinology & metabolismPeptide hormoneBiochemistry03 medical and health sciencesBasal (phylogenetics)0302 clinical medicineSex FactorsThyroid-stimulating hormoneInternal medicinemedicineHumansEuthyroidObesityThyrotropin-Releasing Hormonebusiness.industryBiochemistry (medical)ThyroidCell BiologyGeneral MedicineProlactinProlactinmedicine.anatomical_structureEndocrinologyPituitary GlandFemaleThyroid functionbusinesshormones hormone substitutes and hormone antagonistsHormone
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No effects of psychosocial stress on memory retrieval in non-treated young students with Generalized Social Phobia.

2015

Generalized Social Phobia (GSP) is a common anxiety disorder that produces clear social life disruptions. There is no consensus on the specific processes involved in its development, but the role of the hypothalamic-pituitary-adrenal (HPA) axis has been suggested. This study analyzed the effects of the cortisol response to the Trier Social Stress Test (TSST) on the memory retrieval of pictures with different emotional valences in 45 non-treated young students with GSP and 50 non-anxious (NA) subjects (mean=19.35years, SD=0.18). No differences were found in the cortisol response of GSP and NA subjects to the TSST and control sessions. In addition, psychosocial stress impaired memory retrieva…

AdultMaleendocrine systemAdolescentHydrocortisoneEndocrinology Diabetes and MetabolismAffect (psychology)Developmental psychology03 medical and health sciencesYoung Adult0302 clinical medicineEndocrinologySex Factorsstomatognathic systemmedicineTrier social stress testHumansYoung adultSalivaBiological PsychiatrySensitizationHydrocortisoneEndocrine and Autonomic SystemsPhobia SocialImpaired memorymedicine.disease030227 psychiatryPsychiatry and Mental healthAffectMoodmedicine.anatomical_structurePattern Recognition VisualMental RecallFemalePsychology030217 neurology & neurosurgeryAnxiety disorderStress Psychologicalmedicine.drugPsychoneuroendocrinology
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