Search results for " SIT"

showing 10 items of 2985 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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3H-cyproterone acetate: binding characteristics to human uterine progestagen receptors

1985

The availability of tritium labeled cyproterone acetate (CPA) facilitated the systematic investigation of the binding characteristics of this compound for human uterine progesterone receptors (PgR). The binding parameters of 3H-CPA are compared to those of 3H-R5020 and 3H-progesterone. The rate constants of association (k1M-1sec-1) to PgR were 7.8 X 10(3) for 3H-R5020, 4.5 X 10(4) for 3H-progesterone and 4.0 X 10(4) for 3H-CPA. The rate constants of dissociation (k-1, sec-1) were 3.6 X 10(-5) for 3H-R5020, 21.3 X 10(-5) for 3H-progesterone and 17.8 X 10(-5) for 3H-CPA. The Kd-values (M), as obtained by titration analysis and subsequent Scatchard plot analysis were 1.2 X 10(-9) for 3H-R5020,…

medicine.medical_specialtyEndocrinology Diabetes and Metabolismmedicine.medical_treatmentStatistics as TopicTritiumBinding CompetitivePromegestoneSteroidchemistry.chemical_compoundEndocrinologyInternal medicineCentrifugation Density GradientmedicineHumansPotencyheterocyclic compoundsCyproteroneBinding siteCyproterone AcetateReceptorProgesteroneUterusCyproterone acetateKineticsEndocrinologychemistryDihydrotestosteronecardiovascular systemCyproteroneFemaleTritiumReceptors Progesteronehormones hormone substitutes and hormone antagonistsmedicine.drugJournal of Endocrinological Investigation
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Endoscopic Resection of Superficial Esophageal Squamous-Cell Carcinomas: Western Experience

2004

Objectives Endoscopic resection of esophageal squamous-cell neoplasia with curative intent appears to be an alternative treatment to radical surgery when the malignant neoplasia is intraepithelial or limited to the mucosal layer, since the risk for lymph-node metastases is very low. In contrast to Japan, there has so far been only limited experience in Europe and the United States with endoscopic resection in such cases. In the present observational study, we report on the largest prospective series so far in Western countries of patients with early squamous-cell cancer or carcinoma in situ, who were treated using endoscopic resection therapy. Methods Between December 1997 and November 2001…

medicine.medical_specialtyEsophageal Neoplasmsmedicine.medical_treatmentPerforation (oil well)Endoscopy GastrointestinalmedicineCarcinomaHumansProspective StudiesEsophagusRadical surgeryHepatologybusiness.industryCarcinoma in situGastroenterologyCancerMiddle Agedmedicine.diseaseSurgeryTreatment Outcomemedicine.anatomical_structureEsophagectomyCarcinoma Squamous CellbusinessChemoradiotherapyFollow-Up StudiesThe American Journal of Gastroenterology
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Distribution of osteonectin mRNA and protein during human embryonic and fetal development.

1992

We investigated the temporal and spatial distribution of osteonectin during human embryonic and fetal development, using in situ hybridization and immunohistochemistry. Osteonectin gene expression was generally found in cells exhibiting high rates of matrix production/proliferation. In mineralized tissue, a strong signal was obtained in osteoblasts, odontoblasts, and chondrocytes of the upper hypertrophic and proliferative zones. Chondrocytes of the mineralized zone showed no expression throughout the different stages of development. Strong osteonectin expression was found in odontoblasts of developing teeth. In addition, osteonectin mRNA and protein were detected in several non-mineralize…

medicine.medical_specialtyHistologyGene ExpressionIn situ hybridizationEmbryonic and Fetal DevelopmentFetusOsteogenesisPregnancyInternal medicineGene expressionmedicineExtracellularHumansOsteonectinRNA MessengerbiologyCartilageEmbryogenesismusculoskeletal systemEmbryo MammalianImmunohistochemistryCell biologyAbortion Spontaneousmedicine.anatomical_structureOdontoblastEndocrinologyOrgan Specificitybiology.proteinImmunohistochemistryFemaleAnatomyOsteonectinThe journal of histochemistry and cytochemistry : official journal of the Histochemistry Society
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Evaluation of strain values of critical anatomic regions for two different pterygomaxillary approaches in Le Fort I osteotomy: An experimental study

2017

WOS: 000405530400016

medicine.medical_specialtyIn Vitro TechniquesLe Fort I osteotomy03 medical and health sciences0302 clinical medicinestrainStatistical analysesMaxillamedicineHumansOsteotomy Le FortGeneral Dentistrypterygoid processMathematicsSkull BaseOrthodonticsbase of skullStrain (chemistry)Research030206 dentistry:CIENCIAS MÉDICAS [UNESCO]SurgerySkullAnatomical sitesmedicine.anatomical_structureOtorhinolaryngology030220 oncology & carcinogenesisMaxillaLe Fort IUNESCO::CIENCIAS MÉDICASSurgeryStress MechanicalOral Surgeryosteotomy
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Reliability of iCare ic100 Rebound Tonometry and Agreement With Goldmann Applanation Tonometry in Healthy and Post-myopic LASIK Patients.

2021

Rebound tonometry offers excellent reliability for obtaining intraocular pressure (IOP) measurements in healthy and post-myopic laser-assisted in situ keratomileusis (LASIK) patients regardless of corneal parameters and axial length and regardless of the instillation of ocular topical anesthesia.The purpose of this study was to assess the reliability of rebound tonometry, its agreement with Goldmann applanation tonometry (GAT) and its concordance after topical anesthesia in a group of nonoperated healthy patients and a group of post-myopic LASIK patients.Fifty-four patients were included in this prospective observational, case-control study. Patients were divided into 2 groups: control (n=3…

medicine.medical_specialtyIntraocular pressuregenetic structuresIntraclass correlationManometrymedicine.medical_treatmentConcordanceKeratomileusis Laser In SituGlaucomaKeratomileusisCorneaTonometry OcularOphthalmologymedicineHumansIntraocular PressureReproducibilitybusiness.industryLASIKReproducibility of ResultsRepeatabilitymedicine.diseaseeye diseasesOphthalmologyCase-Control Studiessense organsbusinessJournal of glaucoma
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CYTOGENETICS OF THE AMPHIPOD JASSA MARMORATA (COROPHIOIDEA: ISCHYROCERIDAE): KARYOTYPE MORPHOLOGY, CHROMOSOME BANDING, FLUORESCENTIN SITUHYBRIDIZATIO…

2000

Abstract Developing embryos proved to be a suitable source of cells for advanced cytological investigations on Amphipods. Conventional karyotyping, Ag- and fluorochrome-staining, C-banding, endonuclease digestion, fluorescent in situ hybridization (FISH) and nuclear DNA flow cytometric assay were tested in the Ischyroceridae Jassa marmorata. The karyotype consists of 6 chromosome pairs of which 5 are metacentric and 1 subtelocentric. The rDNA/FISH revealed that major ribosomal cistrons are located on the telomeric regions in the short arm of pair 6. A marked size variation of hybridization signals was observed. Silver and fluorochrome staining enhanced no chromosome regions. Constitutive he…

medicine.medical_specialtyIschyroceridaeCytogeneticsChromosomeKaryotypeIn situ hybridizationAquatic ScienceBiologybiology.organism_classificationMolecular biologyNuclear DNAChromosome regionsmedicineConstitutive heterochromatinJournal of Crustacean Biology
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Comparison of conventional hamstring/quadriceps ratio between genders in level-matched soccer players

2017

Abstract Objectives The main goal of our study is to compare the hamstring/quadriceps ( H / Q ) ratio at different knee angles between level-matched male and female soccer players and to determine whether differences in the H / Q ratio exist between the dominant and the non-dominant leg. Methods A cross-sectional study design was used to compare an isometric H / Q ratio and functional isokinetic ratio (between hamstring in eccentric contraction and quadriceps in concentric contraction) between males ( n  = 14) and females ( n  = 14). These ratios were studied at two different speeds of movement (60° s −1 and 180° s −1 ) and in five different positions (40°, 50°, 60°, 70° and 80° degrees of …

medicine.medical_specialtyIsokinetic strengthlcsh:Special situations and conditionsKnee flexionlcsh:MedicineFutebolIsometric exerciseConcentricFútbol03 medical and health sciences0302 clinical medicineMuscular imbalanceStrength ratiosPhysiology (medical)SoccerMedicineEccentricOrthopedics and Sports MedicineRiesgo de lesiónlcsh:Sports medicineRatios de fuerzaDesequilibrio muscularOrthodontics030222 orthopedicsFuerza isocinéticabusiness.industrylcsh:RC952-1245Risco de lesõeslcsh:R030229 sport sciencesRelações de forçaMomento de forçaTorqueMomento de fuerzaPhysical therapyDesequilíbrio muscularForça isocinéticaInjury risklcsh:RC1200-1245businessHamstringRevista Andaluza de Medicina del Deporte
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Translocation (10;11;22)(p14;q24;q12) Characterized by Fluorescence in Situ Hybridization in a Case of Ewing's Tumor

2001

It is well recognized that the identification by classic cytogenetics of t(11;22)(q24;q12) is a useful aid in the accurate diagnosis of Ewing's sarcoma and related tumors. This translocation induces the EWS/FLI-1 fusion transcript, which can be detected by reverse transcription-polymerase chain reaction. Recent studies have also used fluorescence in situ hybridization (FISH) to demonstrate the translocation. The authors coupled classic cytogenetics and FISH on tumor cells from the original specimen, the local recurrence, and the pulmonary metastasis as well as from the xenografted tumors in a case of extraosseous Ewing's sarcoma. FISH analysis not only confirmed the cytogenetic results but …

medicine.medical_specialtyLung NeoplasmsOncogene Proteins FusionChromosomes Human Pair 22Bone NeoplasmsChromosomal translocationSarcoma EwingBiologyTranslocation GeneticPathology and Forensic MedicineImmunoenzyme TechniquesFatal OutcomemedicineHumansChildMolecular BiologyIn Situ Hybridization FluorescenceLegmedicine.diagnostic_testChromosomes Human Pair 10Proto-Oncogene Protein c-fli-1Reverse Transcriptase Polymerase Chain ReactionChromosomes Human Pair 11CytogeneticsChromosomeEwing's tumorDNA NeoplasmSequence Analysis DNACell Biologymedicine.diseaseCombined Modality TherapyFusion transcriptKaryotypingCancer researchFemaleInterphaseSarcomaRNA-Binding Protein EWSTranscription FactorsFluorescence in situ hybridizationDiagnostic Molecular Pathology
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Induction of c-fos gene expression by the selective sigma receptor ligand EMD 57445 in rat brain.

1996

Based on animal studies it has been reasoned that ligands to sigma binding sites might be effective in the treatment of schizophrenic disorders and may also be used to investigate this largely elusive disorder on a molecular level. Expression patterns of c-fos in rat brain were studied following treatment with single doses of the sigma ligand EMD 57445 (0.3, 1, 3, 30 mg/kg s.c.). Specific c-fos gene expression was detected at all concentrations tested in various cortical areas. The signals observed were dose-dependent with the highest intensities in the piriform cortex. Strong signals were also detected in hippocampal areas CA 1,2,3 and the gyrus dentatus, as well as in the medial habenula …

medicine.medical_specialtyMammillary bodyNucleus accumbensHippocampal formationc-FosHippocampusRats Sprague-DawleyPiperidinesPiriform cortexInternal medicinemedicineAnimalsReceptors sigmaPharmacology (medical)OxazolesBiological PsychiatryIn Situ HybridizationPharmacologybiologyDose-Response Relationship DrugChemistryOlfactory tubercleBrainRatsPsychiatry and Mental healthEndocrinologyNeurologyHypothalamusIslands of Callejabiology.proteinFemaleNeurology (clinical)Proto-Oncogene Proteins c-fosAntipsychotic AgentsEuropean neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology
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