Search results for "Debranching"

showing 6 items of 6 documents

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation

2021

BACKGROUND. Deciphering the function of the many genes previously classified as uncharacterized open reading frame (ORF) would complete our understanding of a cell’s function and its pathophysiology. METHODS. Whole-exome sequencing, yeast 2-hybrid and transcriptome analyses, and molecular characterization were performed in this study to uncover the function of the C2orf69 gene. RESULTS. We identified loss-of-function mutations in the uncharacterized C2orf69 gene in 8 individuals with brain abnormalities involving hypomyelination and microcephaly, liver dysfunction, and recurrent autoinflammation. C2orf69 contains an N-terminal signal peptide that is required and sufficient for mitochondrial…

0301 basic medicineMicrocephalyRespiratory chainBiologyMitochondrionCell LineMitochondrial ProteinsTranscriptomeMiceOpen Reading Frames03 medical and health sciencesAll institutes and research themes of the Radboud University Medical Center0302 clinical medicineLoss of Function MutationGlycogen branching enzymemedicineAnimalsHumansGeneMice KnockoutGeneticsMetabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]Glycogen Debranching Enzyme SystemGeneral Medicinemedicine.diseaseMitochondriaOpen reading frameRenal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11]030104 developmental biology030220 oncology & carcinogenesisMicrocephalybiology.proteinClinical MedicineSignal transductionGlycogenJournal of Clinical Investigation
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Multiple periscope and chimney grafts to treat ruptured thoracoabdominal and pararenal aortic aneurysms

2011

Purpose: To report midterm outcomes after urgent endovascular repair of ruptured pararenal or thoracoabdominal aortic aneurysms using multiple periscope and chimney grafts to preserve renovisceral branch perfusion and facilitate aneurysm exclusion. Methods: Nine consecutive men (mean age 72614 years, range 40–88) presenting with ruptured thoracoabdominal (n56), pararenal (n52), or infrarenal (n51) aortic aneurysm underwent urgent endovascular repair with at least 1 periscope graft delivered via a transfemoral access; chimney grafts were installed from an axillary access. In all, 17 periscope and 7 chimney grafts were used to reperfuse 11 renal and 13 visceral arteries in the 9 patients. The…

AdultMalemedicine.medical_specialtyTime Factorsmedicine.medical_treatmentAortic RuptureLess invasive610 Medicine & healthRuptured Aortic AneurysmProsthesis DesignEndovascular aneurysm repairSettore MED/22 - Chirurgia VascolareAortography2705 Cardiology and Cardiovascular Medicinelaw.inventionBlood Vessel Prosthesis ImplantationlawmedicineHumans2741 Radiology Nuclear Medicine and ImagingRadiology Nuclear Medicine and imagingChimneyAgedRetrospective Studiesendodebranching renovisceral arteries chimney graft periscope graft stentgraft endograft ruptured aortic aneurysm ruptured thoracoabdominal aortic aneurysm ruptured pararenal aortic aneurysm ruptured AAA endovascular aneurysm repairAged 80 and overAortic Aneurysm Thoracicbusiness.industry10042 Clinic for Diagnostic and Interventional RadiologyEndovascular ProceduresChimney graftBlood flowMiddle AgedSurgeryBlood Vessel Prosthesis10020 Clinic for Cardiac Surgery2746 SurgeryTreatment Outcomecardiovascular systemSurgeryFemaleStentsRadiologyPeriscopeCardiology and Cardiovascular MedicinebusinessTomography X-Ray ComputedAortic Aneurysm Abdominal
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Comparative genomic and phylogenetic analyses of gammaproteobacterial glg genes traced the origin of the Escherichia coli glycogen glgBXCAP operon to…

2015

© 2015 Almagro et al. Production of branched α-glucan, glycogen-like polymers is widely spread in the Bacteria domain. The glycogen pathway of synthesis and degradation has been fairly well characterized in the model enterobacterial species Escherichia coli (order Enterobacteriales, class Gammaproteobacteria), in which the cognate genes (branching enzyme glgB, debranching enzyme glgX, ADP-glucose pyrophosphorylase glgC, glycogen synthase glgA, and glycogen phosphorylase glgP) are clustered in a glgBXCAP operon arrangement. However, the evolutionary origin of this particular arrangement and of its constituent genes is unknown. Here, by using 265 complete gammaproteobacterial genomes we have …

EnterobacterialesOperonglg genesglgBXCAP operonlcsh:MedicineBiologyGlycogen debranching enzymeAmino acid sequenceBacterial evolutionEvolution MolecularPhylogeneticsGammaproteobacteriaOperonGlycogen branching enzymeEscherichia colilcsh:SciencePhylogenyGeneticsMultidisciplinaryPhylogenetic analysisPhylogenetic treelcsh:Rbiology.organism_classificationGenome evolutionglycogenHorizontal gene transferbiology.proteinlcsh:QPasteurellaceaeGlycogenGammaproteobacteriaResearch Article
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Mid-term results of zone 0 thoracic endovascular aneurysm repair after ascending aorta wrapping and supra-aortic debranching in high-risk patients

2017

Objectives Surgical repair of aneurysmal disease involving the ascending aorta, aortic arch and eventually the descending aorta is generally associated with significant morbidity and mortality. A less invasive approach with the ascending wrapping technique (WT), supra-aortic vessel debranching (SADB) and thoracic endovascular aneurysm repair (TEVAR) in zone 0 was developed to reduce the associated risk in these patients. Methods During a 10-year period, consecutive patients treated by the ascending WT, SADB and TEVAR in zone 0 were included. All patients were considered at high risk for conventional surgery. Measured outcomes included perioperative deaths and morbidity, maximal aortic trans…

MaleAortic archTime FactorsComputed Tomography AngiographyAneurysm; Arch; Ascending; Debranching; TEVAR; Wrapping; Surgery; Pulmonary and Respiratory Medicine; Cardiology and Cardiovascular Medicinemedicine.medical_treatmentWrapping030204 cardiovascular system & hematologyEndovascular aneurysm repairPostoperative Complications0302 clinical medicineRisk FactorsAscendingThoracic aorta030212 general & internal medicineAortaAged 80 and overTEVAR10042 Clinic for Diagnostic and Interventional RadiologyEndovascular ProceduresMiddle Aged2746 SurgeryItalyDescending aortaCardiologyFemaleCardiology and Cardiovascular MedicinePulmonary and Respiratory Medicinemedicine.medical_specialty10216 Institute of Anesthesiology610 Medicine & healthArch2705 Cardiology and Cardiovascular Medicine03 medical and health sciencesAneurysmBlood vessel prosthesismedicine.arteryInternal medicineAscending aortamedicineHumansAgedAortaAortic Aneurysm Thoracicbusiness.industryDebranchingmedicine.diseaseAneurysmBlood Vessel ProsthesisSurgery10020 Clinic for Cardiac Surgery2740 Pulmonary and Respiratory MedicineSurgeryMorbiditybusinessFollow-Up Studies
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Complete renovisceral debranching and EVAR for thoracoabdominal aneurysm

2011

Open graft repair of thoracoabdominal aortic aneurysms (TAAA) is an incredibly complex and challenging procedure with acceptable results achieved only by a few centers worldwide. Contemporary outcome analysis of TAAA repair performed in the United States showed greater operative mortality and morbidity rates than commonly reported. Moreover, a recent European long-term follow-up study showed that survival remains suboptimal, especially in the early years after TAAA repair. Complete renovisceral debranching combined with EVAR offers many advantages in regard to open surgical repair with comparable or better results, especially in the high-risk patient. Although this hybrid procedure will not…

Settore MED/22 - Chirurgia VascolareComplete renovisceral debranching EVAR TAA
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Chimney and Periscope Grafts: Mid-term Results in 77 Consecutive Patients with Complex Aortic Aneurysms

2012

Not applicable

chimeny endodebranching EVAR
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