0000000000509839

AUTHOR

R. Breuer

showing 5 related works from this author

Common variants conferring risk of schizophrenia

2009

Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their interactions. Research on pathogenesis has traditionally focused on neurotransmitter systems in the brain, particularly those involving dopamine. Schizophrenia has been considered a separate disease for over a century, but in the absence of clear biological markers, diagnosis has historically been based on signs and symptoms. A fundamental message emerging from genome-wide association studies of copy number variations (CNVs) associated with the disease is that its genetic basis does not necessarily conform to classical nosological disease boundaries. Certain CNVs confer not only high relative ris…

Pair 6/geneticsGenetics and epigenetic pathways of disease [NCMLS 6]Genome-wide association studyAetiology screening and detection [ONCOL 5]1Q21.1Major Histocompatibility Complex/geneticsMajor Histocompatibility ComplexTranscription Factor 40302 clinical medicineChemicals And Cas Registry NumbersPerception and Action [DCN 1]Copy-number variationPOPULATIONGeneticsPair 18/genetics0303 health scienceseducation.field_of_studyGenomeHuman/geneticsMultidisciplinaryBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsSchizophrenia/*genetics/immunologyGenetic Predisposition to Disease/*genetics3. Good healthDNA-Binding ProteinsNeurogranin/geneticsDISEASESChromosomes Human Pair 6Single Nucleotide/*geneticsFunctional Neurogenomics [DCN 2]Zinc finger protein 804AHumanGenetic MarkersPsychosisGenotypePopulationTranscription Factors/geneticsSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideChromosomesPair 11/geneticsArticleChromosomes; Human; Pair 11/genetics; Pair 18/genetics; Pair 6/genetics; DNA-Binding Proteins/genetics; Genetic Markers/genetics; Genetic Predisposition to Disease/*genetics; Genome; Human/genetics; Genome-Wide Association Study; Genotype; Humans; Major Histocompatibility Complex/genetics; Neurogranin/genetics; Polymorphism; Single Nucleotide/*genetics; Schizophrenia/*genetics/immunology; Transcription Factors/geneticsGenomic disorders and inherited multi-system disorders [IGMD 3]Molecular epidemiology [NCEBP 1]03 medical and health sciencesTranslational research [ONCOL 3]medicineHumansSNPGenetic Predisposition to DiseasePolymorphismGENOME-WIDE ASSOCIATIONeducation030304 developmental biologyGenetic associationGenetic Markers/geneticsHereditary cancer and cancer-related syndromes [ONCOL 1]Genome HumanChromosomes Human Pair 11MEMORYmedicine.diseaseGENENEUROGRANINDELETIONSSchizophreniabiology.proteinNeurograninChromosomes Human Pair 18DNA-Binding Proteins/geneticsMENTAL-RETARDATIONSCAN030217 neurology & neurosurgeryGenome-Wide Association StudyTranscription Factors
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The impact of conversion on the risk of major complication following laparoscopic colonic surgery: an international, multicentre prospective audit.

2018

BACKGROUND: Laparoscopy has now been implemented as a standard of care for elective colonic resection around the world. During the adoption period, studies showed that conversion may be detrimental to patients, with poorer outcomes than both laparoscopic completed or planned open surgery. The primary aim of this study was to determine whether laparoscopic conversion was associated with a higher major complication rate than planned open surgery in contemporary, international practice.METHODS: Combined analysis of the European Society of Coloproctology 2017 and 2015 audits. Patients were included if they underwent elective resection of a colonic segment from the caecum to the rectosigmoid jun…

Laparoscopic surgeryMaleColorectal cancermedicine.medical_treatmentsurgery0302 clinical medicinePostoperative ComplicationsMedicineMajor complicationProspective StudiesLaparoscopySHORT-TERM OUTCOMESColectomyMedical Auditmedicine.diagnostic_testProspective auditGastroenterologyMiddle Agedlaparoscopic surgeryConversion to Open SurgeryColon cancerTreatment OutcomeElective Surgical Procedures030220 oncology & carcinogenesis030211 gastroenterology & hepatologyFemaleColonic surgeryAdultmedicine.medical_specialtyCLINICAL-TRIALNOOPEN COLECTOMY03 medical and health sciencesCOLORECTAL SURGERYCase mix indexgastrointestinal surgeryHumansrectal cancerRECTAL-CANCERAgedta3126business.industryElective resectionmedicine.diseaseRANDOMIZED-TRIALOPEN RESECTIONSurgeryColon cancer; gastrointestinal surgery; laparoscopic surgery; rectal cancer; surgery; GastroenterologyLaparoscopybusinessColorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland
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Evaluating the incidence of pathological complete response in current international rectal cancer practice: the barriers to widespread safe deferral …

2018

INTRODUCTION: The mainstay of management for locally advanced rectal cancer is chemoradiotherapy followed by surgical resection. Following chemoradiotherapy, a complete response may be detected clinically and radiologically (cCR) prior to surgery or pathologically after surgery (pCR). We aim to report the overall complete pathological response (pCR) rate and the reliability of detecting a cCR by conventional pre-operative imaging.METHODS: A pre-planned analysis of the European Society of Coloproctology (ESCP) 2017 audit was performed. Patients treated by elective rectal resection were included. A pCR was defined as a ypT0 N0 EMVI negative primary tumour; a partial response represented any r…

MaleColorectal cancerdeferral of surgery; neoadjuvant therapy; pathology; radiology; rectal cancer; Rectal surgery; surgical oncology; Gastroenterology0302 clinical medicineProspective StudiesProspective cohort studyComplete responseMedical Auditintegumentary systemIncidence (epidemiology)IncidenceRemission InductionGastroenterologyMiddle AgedMagnetic Resonance ImagingPeer reviewEuropeTreatment Outcomedeferral of surgeryResponse Evaluation Criteria in Solid Tumors030220 oncology & carcinogenesisPreoperative Period030211 gastroenterology & hepatologyFemaleAdultmedicine.medical_specialtyRectal surgeryNO03 medical and health sciencessurgical oncologymedicineHumansneoadjuvant therapyIntensive care medicineDeferralrectal cancerPathologicalResponse Evaluation Criteria in Solid TumorsAgedNeoplasm Stagingta3126business.industryRectal NeoplasmsReproducibility of ResultsChemoradiotherapy Adjuvantmedicine.diseaseradiologyRectal Neoplasms/diagnostic imagingpathologyNeoplasm Staging/methodsbusiness
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Common variants at VRK2 and TCF4 conferring risk of schizophrenia

2011

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants show…

schizophrenia; sequence variants; TCF4Genome-wide association studyTranscription Factor 40302 clinical medicineVRK2 protein humanPolymorphism (computer science)Genotypegenetics [Schizophrenia]NeurograninGenetics (clinical)Schizophrenia; Genotype; Risk; Alleles; Polymorphism Single Nucleotide; Transcription Factors; Humans; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; Genetic Predisposition to Disease; Protein-Serine-Threonine Kinases; Genome-Wide Association StudyGenetics0303 health sciencesBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsAssociation Studies ArticlesSingle NucleotideGeneral MedicineTCF4genetics [Transcription Factors]Protein-Serine-Threonine Kinases3. Good healthJRiskGenotypeProtein Serine-Threonine KinasesBiologyPolymorphism Single Nucleotidegenetics [Protein-Serine-Threonine Kinases]Molecular epidemiology [NCEBP 1]03 medical and health sciencesddc:570GeneticsHumansGenetic Predisposition to DiseasePolymorphismAllelegenetics [Basic Helix-Loop-Helix Leucine Zipper Transcription Factors]Settore MED/25 - PsichiatriaMolecular BiologyAllelesTCF4Molecular epidemiology Aetiology screening and detection [NCEBP 1]030304 developmental biologysequence variantsIntronOdds ratioMolecular biologySchizophreniaTCF4 protein human030217 neurology & neurosurgeryGenome-Wide Association StudyTranscription Factors
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An international multicentre prospective audit of elective rectal cancer surgery; operative approach versus outcome, including transanal total mesore…

2018

Introduction: Transanal total mesorectal excision (TaTME) has rapidly emerged as a novel approach for rectal cancer surgery. Safety profiles are still emerging and more comparative data is urgently needed. This study aimed to compare indications and short-term outcomes of TaTME, open, laparoscopic, and robotic TME internationally. Methods: A pre-planned analysis of the European Society of Coloproctology (ESCP) 2017 audit was performed. Patients undergoing elective total mesorectal excision (TME) for malignancy between 1 January 2017 and 15 March 2017 by any operative approach were included. The primary outcome measure was anastomotic leak. Results: Of 2579 included patients, 76.2% (1966/257…

MaleLaparoscopic surgerymedicine.medical_specialtyColorectal cancermedicine.medical_treatmentOperative TimeAnastomosisMalignancyrectal cancer ; laparoscopic surgery ; TME ; transanal TME ; TaTME ; robotic surgery ; randomized clinical-trial ; short-term outcomes ; laparoscopic-assisted resection ; pathological outcomes ; anastomotic leakage ; initial-experience ; riskNO03 medical and health sciencesPostoperative Complications0302 clinical medicineRobotic Surgical Proceduresrobotic surgerytransanal TMEHumansMedicineRobotic surgeryProspective Studieslaparoscopic surgery; Rectal cancer; robotic surgery; TaTME; TME; transanal TME; GastroenterologyRectal cancerAgedTransanal Endoscopic Surgeryta3126Medical AuditUnivariate analysisProctectomyRectal Neoplasmsbusiness.industryRectumGastroenterologyTMEMargins of ExcisionMiddle Agedmedicine.diseaseTotal mesorectal excisionTaTMElaparoscopic surgerySurgeryTreatment OutcomeElective Surgical Procedures030220 oncology & carcinogenesisRectal cancer surgeryFemaleLaparoscopy030211 gastroenterology & hepatologybusiness
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