Search results for "ligation"

showing 10 items of 330 documents

Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy

2009

The exstrophy-epispadias complex (EEC) comprises a spectrum of urogenital anomalies in which part or all of the distal urinary tract fails to close. The present study aimed to identify microaberrations characterized by loss or gain of genomic material that contribute to the EEC at a genome-wide level. Molecular karyotyping, utilizing 549,839 single nucleotide polymorphisms (SNPs) with an average spacing of 5.7 kilobases, was performed to screen an initial cohort of 16 patients with non-syndromic EEC. A de novo microduplication involving chromosomal region 22q11.21 was identified in one patient with classic exstrophy of the bladder (CBE). Subsequent multiplex ligation-dependent probe amplifi…

AdultMaleChromosomes Human Pair 22MedizinMolecular Probe TechniquesSingle-nucleotide polymorphismBiologyBioinformaticsPolymorphism Single NucleotideChromosomesGene DuplicationDiGeorge syndromeGene duplicationGeneticsmedicineHumansGenetic Predisposition to DiseaseMultiplex ligation-dependent probe amplificationChildGenetics (clinical)GeneticsGene Expression ProfilingBladder ExstrophyGeneral Medicinemedicine.diseasePenetranceBladder exstrophyPhenotypeKaryotypingChromosomal regionFemaleSNP arrayEuropean Journal of Medical Genetics
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Evaluation of ethical reflections in community healthcare: a mixed-methods study.

2014

Background: Ethical reflections over care practices are important. In order to be able to perform such reflections, healthcare professionals must learn to think critically about their care practice. Aim: The aim of this study was to evaluate whether an introduction to and practice in ethical reflections in community healthcare have consequences for the healthcare personnel’s practice. Research design: A mixed-methods design was adopted with five focus group interviews and an electronic questionnaire based on results from the interviews. Participants and research context: A total of 29 community healthcare personnel with experience in ethical reflections participated in the interviews. The e…

AdultMaleMoral ObligationsHealth PersonnelResearch contextNorwegianProfessional CompetenceNursingSurveys and QuestionnairesHealth careMedicineHumansCommunity Health ServicesWorkplaceHealth professionalsbusiness.industryNorwayFocus GroupsMiddle AgedFocus grouplanguage.human_languageIssues ethics and legal aspectslanguageWorkforceFemaleNursing CarebusinessDelivery of Health CareDeclaration of HelsinkiNursing ethics
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High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability.

2007

Mutation screening of the BRCA1 and BRCA2 genes in probands with familial breast/ovarian cancer has been greatly improved by the multiplex ligation-dependent probe amplification (MLPA) assay able to evidence gene rearrangements not detectable by standard screening methods. However, no criteria for selection of cases to be submitted to the MLPA test have been reported yet. We used the BRCAPro software for the selection of familial breast/ovarian cancer probands investigated with the MLPA approach after negative BRCA1/2 conventional mutation screening. One hundred and seventy-seven probands were investigated for germline BRCA1/2 mutations after assessment of genetic risk using BRCAPro. Proban…

AdultMaleOncologyProbandcongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyendocrine system diseasesBreast NeoplasmsGermlineBreast Neoplasms MaleGermline mutationBreast cancerRisk FactorsInternal medicinePrevalenceHumansMedicineGenetic Predisposition to DiseaseMultiplexMultiplex ligation-dependent probe amplificationskin and connective tissue diseasesAgedSequence DeletionOvarian NeoplasmsGeneticsBRCA1 Proteinbusiness.industryGenetic Carrier ScreeningProstatic NeoplasmsHematologyMiddle Agedmedicine.diseaseBRCA1 BRCA2 BRCAPro breast cancer MLPA ovarian cancerPedigreeOncologyMutation (genetic algorithm)FemalebusinessOvarian cancerSoftware
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Endoscopic sclerotherapy for hemostasis of acute esophageal variceal bleeding.

2014

Introduction. Currently the most widely used methods for endoscopic control of esophageal varices bleeding are sclerotherapy and rubber band ligation. Although the superiority of band ligation (BL) over endoscopic sclerotherapy (SCL) for the secondary prophylaxis of variceal hemorrhage has been proven, the best approach for acute bleeding remains controversial. Patients and methods. We performed a retrospective study between January 2005 and May 2013. We selected 104 patients with gastrointestinal hemorrhage from rupture of esophageal varices treated with endoscopic sclerotherapy. The sclerosing agent used was 1% polidocanol in 89 cases, butyl-cyanoacrylate in 8 cases and sodium tetradecyls…

AdultMalePolidocanolReproducibility of ResultsEnbucrilateMiddle Agedendoscopic sclerotherapyEsophageal and Gastric VaricesSclerosing SolutionsPolyethylene GlycolsSodium Tetradecyl SulfateTreatment OutcomeRecurrenceSclerotherapyHumansFemaleOriginal ArticleEsophagoscopyGastrointestinal Hemorrhageesophageal variceal bleedingLigationAgedRetrospective Studies
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Infrequent early recanalization of greater saphenous vein after endovenous laser treatment

2003

Abstract Objective The frequency of recanalization of the greater saphenous vein (GSV) after endovenous laser treatment (ELT) is unclear. This study was undertaken to establish the incidence of early recanalization after ELT and to study the histopathologic features of reperfused and excised GSV. Methods One hundred nine GSV in 85 consecutive patients with clinical stage C 2-6 E P,S A S,P,D P R disease were treated with ELT. Twelve months of follow-up with duplex scanning at regular intervals was possible in 104 treated veins (95.4%) in 82 patients (96.5%). Recanalized vessels were removed surgically and examined at histopathology. Results ELT-induced occlusion proved permanent at duplex sc…

AdultMaleReoperationmedicine.medical_specialtyHigh ligationAdolescentmedicine.medical_treatmentGreater saphenous veinRisk AssessmentSeverity of Illness IndexCohort StudiesDuplex scanningOcclusionmedicineHumansSaphenous VeinProspective StudiesStage (cooking)Vascular PatencyAgedAged 80 and overUltrasonography Doppler Duplexbusiness.industryBiopsy NeedleEndovenous laser treatmentMiddle AgedImmunohistochemistrySurgeryTreatment OutcomeLower ExtremityVenous InsufficiencyFemaleSurgeryHistopathologyLaser TherapyCardiology and Cardiovascular MedicinebusinessSaphenous veinsFollow-Up StudiesJournal of Vascular Surgery
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Reduced risk of ICA ligation after balloon occlusion test

1982

AdultMaleRiskReduced riskmedicine.medical_specialtyBrain IschemiaBrain ischemiamedicineHumansLigationmedicine.diagnostic_testbusiness.industryIntracranial AneurysmGeneral MedicineMiddle Agedmedicine.diseaseCerebral AngiographyAngioplasty balloonSurgeryBalloon occlusionCarotid artery.internalFemaleSurgeryNeurology (clinical)NeurosurgeryLigationbusinessAngioplasty BalloonCarotid Artery InternalCerebral angiographyNeurosurgical Review
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Terminal ligature of inferior thyroid arterhy branches during total thyroidectomy for multinodular goiter is associated with higher postoperative cal…

2010

Purpose: To evaluate the impact of truncal versus terminal branch ligature of the inferior thyroid artery (ITA) on postoperative calcium and PTH plasma levels in patients undergoing total thyroidectomy for multinodular goiter. Methods: A prospective randomized study was performed comparing a group of patients that underwent either truncal ligature of the ITA (group 1) or terminal ligature of ITA branches (group 2). Results: A series of 126 consecutive patients with non-toxic euthyroid multinodular goiter underwent total thyroidectomy. Truncal ligature of the ITA was performed in 63 patients (group 1) and terminal branch ITA ligature in 63 patients (group 2). Postoperative ionized serum calc…

AdultMaleendocrine systemmedicine.medical_specialtyendocrine system diseasesmedicine.medical_treatmentThyroid Glandchemistry.chemical_elementCalciumInferior thyroid arterhythyroidectomyPTHmedicine.arteryMultinodular goitermedicineHumansPostoperative PeriodProspective StudiesInferior thyroid arteryLigatureLigationTotal thyroidectomyGoiterbusiness.industryThyroidThyroidectomyArteriesGeneral Medicinemedicine.diseaseSurgerySettore MED/18 - Chirurgia Generalemedicine.anatomical_structurechemistryHypoparathyroidismParathyroid HormoneThyroidectomyCalciumFemalebusiness
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The intravascular ultrasound morphometry of iliac veins in subjects without severe chronic venous insufficiency and its implications for treatment in…

2019

Objectives The purpose of this study is to report the intravascular ultrasound morphometry of iliac veins and its relation to demographic and anthropometric factors in subjects without chronic venous insufficiency. Methods Thirty-three patients, without chronic venous insufficiency – qualified to great saphenous vein stripping due to unilateral, primary varicose veins – participated in the study. During the surgery, left and right external iliac veins, common iliac veins and inferior vena cava were interrogated with intravascular ultrasound. The morphometric analysis included measurement of a cross-sectional area at normal, non-stenosed vein segments (ref-CSA) and at the point of the most p…

AdultMalemedicine.medical_specialtyChronic venous insufficiencymedicine.medical_treatmentClinical Decision-MakingVena Cava InferiorConstriction Pathologic030204 cardiovascular system & hematologyIliac Vein030218 nuclear medicine & medical imagingVaricose Veins03 medical and health sciencesYoung Adult0302 clinical medicinePredictive Value of TestsIntravascular ultrasoundmedicineHumansSaphenous VeinLigationSelection (genetic algorithm)Ultrasonography InterventionalAgedPeripheral Vascular Diseasesmedicine.diagnostic_testbusiness.industryEndovascular ProceduresStentGeneral MedicineMiddle Agedmedicine.diseaseIliac veinscardiovascular systemiliac veins morphometryFemaleStentsIntravascular ultrasoundRadiologyCardiology and Cardiovascular MedicinebusinessVascular Surgical ProceduresPhlebology
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Fertility in males after childhood, adolescent, and adult inguinal operations

2018

Abstract Background/purpose Inguinal hernia repair and orchidopexy are among the most common operations in boys. The impact on future fertility has not been conclusively defined. This study evaluates sperm quality after previous inguinal surgery. Methods Spermiograms of men with a desire to conceive children were analyzed. History of previous inguinal surgery (hernia repair, orchidopexy, varicocele ligation) was correlated with sperm quality. Other influential factors (age, BMI, chronic medication, tobacco use) were also tested. Results A total of 333 patients were included. Overall, 12.6% of the subjects had undergone previous inguinal surgery. Of these, 17 (43%) were inguinal hernia repai…

AdultMalemedicine.medical_specialtyMultivariate analysisTobacco useAdolescentmedicine.medical_treatmentmedia_common.quotation_subjectVaricoceleInguinal CanalHernia InguinalFertilityCohort StudiesYoung Adult03 medical and health sciencesPostoperative Complications0302 clinical medicine030225 pediatricsVaricoceleHumansMedicineProspective StudiesChildLigationHerniorrhaphyAgedmedia_commonbusiness.industryGeneral MedicineMiddle Agedmedicine.diseaseHernia repairSpermSurgerySemen AnalysisInguinal herniaFertilityChild PreschoolOrchiopexy030220 oncology & carcinogenesisPediatrics Perinatology and Child HealthSurgeryVaricocele ligationbusinessJournal of Pediatric Surgery
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De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

2010

International audience; Interstitial deletions involving the 15q21.1 band are very rare. Only 4 of these cases have been studied using molecular cytogenetic techniques in order to confirm the deletion of the whole FBN1 gene. The presence of clinical features of the Marfan syndrome (MFS) spectrum associated with mental retardation has been described in only 2/4 patients. Here we report on a 16-year-old female referred for suspicion of MFS (positive thumb and wrist sign, scoliosis, joint hyperlaxity, high-arched palate with dental crowding, dysmorphism, mitral insufficiency with dystrophic valve, striae). She had therefore 3 minor criteria according to the Ghent nosology. She also had speech …

AdultMalemusculoskeletal diseasesProbandMarfan syndromecongenital hereditary and neonatal diseases and abnormalitiesAdolescent[SDV]Life Sciences [q-bio]Fibrillin-1BiologyFibrillinsBioinformaticsPolymerase Chain ReactionMarfan SyndromeLoss of heterozygosity03 medical and health sciencesTransforming Growth Factor betaIntellectual DisabilityGeneticsmedicineHumansMultiplex ligation-dependent probe amplificationAlleleChildGeneIn Situ Hybridization FluorescenceGenetics (clinical)Oligonucleotide Array Sequence AnalysisSequence Deletion030304 developmental biologyGeneticsChromosomes Human Pair 15Comparative Genomic Hybridization0303 health sciencesMicrofilament Proteins030305 genetics & heredityGeneral Medicinemedicine.diseasePedigree3. Good healthPhenotypeMutationMicrosatelliteFemaleDNA ProbesHaploinsufficiencyMicrosatellite RepeatsEuropean Journal of Medical Genetics
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