Search results for " diaphragm"

showing 10 items of 41 documents

Rabphilin involvement in filtration and molecular uptake in Drosophila nephrocytes suggests a similar role in human podocytes

2020

ABSTRACT Drosophila nephrocytes share functional, structural and molecular similarities with human podocytes. It is known that podocytes express the rabphilin 3A (RPH3A)-RAB3A complex, and its expression is altered in mouse and human proteinuric disease. Furthermore, we previously identified a polymorphism that suggested a role for RPH3A protein in the development of urinary albumin excretion. As endocytosis and vesicle trafficking are fundamental pathways for nephrocytes, the objective of this study was to assess the role of the RPH3A orthologue in Drosophila, Rabphilin (Rph), in the structure and function of nephrocytes. We confirmed that Rph is required for the correct function of the en…

0301 basic medicineEndocytic cycle030232 urology & nephrologyRetinoic acidlcsh:MedicineMedicine (miscellaneous)Labyrinthine channelschemistry.chemical_compound0302 clinical medicineImmunology and Microbiology (miscellaneous)Chronic kidney diseaseDrosophila ProteinsSlit diaphragmGene knockdownPodocytesIntracellular Signaling Peptides and ProteinsDrosophila nephrocyteEndocytosisCell biologyProtein TransportDrosophila melanogasterLarvaSlit diaphragmFemaleRNA InterferenceEndocytic pathwaylcsh:RB1-214Research ArticleEndosomeNeuroscience (miscellaneous)Nerve Tissue ProteinsTretinoinCell fate determinationBiologyEndocytosisGeneral Biochemistry Genetics and Molecular Biology03 medical and health scienceslcsh:PathologyRabphilinAnimalsHumansCell Lineagelcsh:RCytoplasmic VesiclesDrosCubilinSurvival Analysis030104 developmental biologychemistrySilver NitrateDisease Models & Mechanisms
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Is laterality of congenital diaphragmatic hernia a reliable prognostic factor? French national cohort study.

2020

International audience; Objectives: The objective of this study was to assess whether the laterality of congenital diaphragmatic hernia (CDH) was a prognostic factor for neonatal survival.Methods : This was a cohort study using the French national database of the Reference Center for Diaphragmatic Hernias. The principal endpoint was survival after hospitalization in intensive care.We made a comparative study between right CDH and left CDH by univariate and multivariate analysis. Terminations and stillbirths were excluded from analyses of neonatal outcomes.Results: A total of 506 CDH were included with 67 (13%) right CDH and 439 left CDH (87%). Rate of survival was 49% for right CDH and 74% …

0301 basic medicineMaleMultivariate analysisSurvival030105 genetics & heredityCohort Studies0302 clinical medicinePregnancyPrenatal DiagnosisInfant MortalityRisk of mortalityAntenatal DiagnosisLungGenetics (clinical)030219 obstetrics & reproductive medicineObstetrics and GynecologyMetaanalysisPrognosis3. Good healthLateralityCardiologyFemaleFranceCohort studyAdultmedicine.medical_specialtyPrognostic factorFetal Lung-VolumeDiaphragmatic breathingOutcomes[SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics03 medical and health sciencesIntensive careInternal medicineUltrasoundmedicineHumansMortalityLiver HerniationRetrospective Studies[SDV.GEN]Life Sciences [q-bio]/Geneticsbusiness.industry2 CitiesInfant NewbornCongenital diaphragmatic herniaInfantReproducibility of Resultsmedicine.diseasebusinessPredictionHernias Diaphragmatic CongenitalPrenatal diagnosisREFERENCES
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Autosomal recessive variations of TBX6 , from congenital scoliosis to spondylocostal dysostosis

2017

International audience; Proximal 16p11.2 microdeletions are recurrent microdeletions with an overall prevalence of 0.03%. In patients with segmentation defects of the vertebra (SDV), a burden of this microdeletion was observed with TBX6 as a candidate gene for SDV. In a published cohort of patients with congenital scoliosis (CS), TBX6 haploinsufficiency was compound heterozygous with a common haplotype. Besides, a single three-generation family with spondylocostal dysostosis (SCD) was reported with a heterozygous stop-loss of TBX6. These observations questioned both on the inheritance mode and on the variable expressivity associated with TBX6-associated SDV. Based on a national recruitment …

0301 basic medicineMalePediatricsmedicine.medical_specialtyCandidate geneGenotypeScoliosis030105 genetics & heredityCompound heterozygosity03 medical and health sciences[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyGeneticsmedicineInheritance ModeMissense mutationHumansAbnormalities MultipleGenetic Predisposition to DiseaseChildGenetics (clinical)GeneticsHernia Diaphragmaticbusiness.industryHaplotypeInfantmedicine.diseaseSpondylocostal dysostosisSpine3. Good healthPedigree030104 developmental biologyHaplotypesScoliosisChild PreschoolMutationFemalebusinessHaploinsufficiencyT-Box Domain Proteins[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study.

2015

INTRODUCTION: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT).METHODS: Cases of CDH delivered between 1980 and 2009 notified to 31 EUROCAT registers formed the population-based case series. Prevalence over time was estimated using multilevel Poisson regression, and heterogeneity between registers was evaluated from the random component of the intercept.RESULTS: There were 3373 CDH cases reported among 12 155 491 registered births. Of 3131 singleton cases, 353 (10.4%) were associated wit…

ANOMALIESAdultMalePediatricsmedicine.medical_specialtyAUSTRALIAAdolescentPopulationPrevalencePrenatal diagnosisGestational AgeEurope/epidemiologysymbols.namesakeYoung AdultEpidemiologyPrevalenceMedicineBirth WeightHumansMALFORMATIONSAbnormalities MultiplePoisson regressionRegistriesPRENATAL-DIAGNOSISeducationeducation.field_of_studybusiness.industryMORTALITYInfant NewbornObstetrics and GynecologyCongenital diaphragmatic herniaGestational ageGeneral MedicineDEFECTSmedicine.diseaseSurvival AnalysisCongenital anomalies ; Diaphragmal hernia ; Epidemiology ; EuropeEuropeHernias Diaphragmatic Congenital/epidemiologyRelative riskPopulation SurveillancePediatrics Perinatology and Child HealthsymbolsAbnormalities Multiple/epidemiologyFemalebusinessHernias Diaphragmatic CongenitalMaternal AgeArchives of disease in childhood. Fetal and neonatal edition
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Assessment of various factors influencing esophageal pressure measurement

1980

Die intraluminale Manometrie wird zunehmend fur die Diagnose osophagealer Motilitatsstorungen eingesetzt. Die klinische Validitat der Methode hangt jedoch entscheidend von einer exakten Standardisierung der Methodik, des Untersuchungsablaufes und der Kenntnis der Einflusgrosen auf das Mesergebnis ab. Im ersten Teil dieser Studie wurde der Einflus verschiedener methodischer Faktoren auf das Ergebnis der Osophagusdruckmessung in Modellversuchen, bei 44 gesunden Probanden und bei 74 Patienten mit axialer Hiatushernie mit einem elektromagnetischen Mikrotransducer untersucht. Signifikante Unterschiede der Meswerte fanden sich in Abhangigkeit von der Sensorposition im oberen Osophagussphinkter (p…

AdultHernia DiaphragmaticMaleGynecologymedicine.medical_specialtyManometrybusiness.industryPostureGeneral MedicineMiddle AgedEsophagusHernia HiatalDrug DiscoveryPressuremedicineHumansMolecular MedicineEsophageal pressureFemalePeristalsisbusinessGenetics (clinical)AgedKlinische Wochenschrift
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Laparoscopic En Bloc Right Diaphragmatic Peritonectomy for Diaphragmatic Endometriosis According to the Sugarbaker Technique

2016

Abstract Study Objective To evaluate the feasibility of a novel laparoscopic procedure for complete eradication of diaphragmatic endometriosis (DE). Design A retrospective multicenter study (Canadian Task Force Classification II-2). Setting University tertiary referral centre. Patients A consecutive series of 9 women with DE. Interventions Laparoscopic en bloc eradication using Sugarbaker's peritonectomy technique with or without diaphragmatic resection for DE. All surgical procedures were performed by the same surgeon in 2 tertiary referral centers (Charite University, Berlin, Germany, and Catholic University of the Sacred Heart, Foundation John Paul II, Campobasso, Italy). Measurements an…

Adultmedicine.medical_specialtymedicine.medical_treatmentDiaphragmOperative TimeEndometriosisEndometriosisDiaphragmatic breathingDiaphragmatic endometriosi03 medical and health sciencesPostoperative Complications0302 clinical medicineDiaphragmatic endometriosis; Laparoscopy; Peritonectomy; Sugarbaker's technique; Adult; Diaphragm; Endometriosis; Female; Germany; Humans; Italy; Laparotomy; Muscular Diseases; Operative Time; Postoperative Complications; Retrospective Studies; Laparoscopy; Obstetrics and Gynecology; Medicine (all)Muscular DiseasesPeritonectomyGermanyLaparotomymedicineHumansLaparoscopyDiaphragmatic endometriosisRetrospective StudiesLaparotomy030219 obstetrics & reproductive medicineSugarbaker's techniquemedicine.diagnostic_testbusiness.industryMedicine (all)Obstetrics and GynecologyRetrospective cohort studyPerioperativemedicine.diseaseSymptomatic reliefSurgeryPeritonectomySettore MED/40 - GINECOLOGIA E OSTETRICIAItaly030220 oncology & carcinogenesisFemaleLaparoscopybusinessJournal of Minimally Invasive Gynecology
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3D-Ultrastructure, Functions and Stress Responses of Gastropod (Biomphalaria glabrata) Rhogocytes

2014

Rhogocytes are pore cells scattered among the connective tissue of different body parts of gastropods and other molluscs, with great variation in their number, shape and size. They are enveloped by a lamina of extracellular matrix. Their most characteristic feature is the "slit apparatus", local invaginations of the plasma membrane bridged by cytoplasmic bars, forming slits of ca. 20 nm width. A slit diaphragm creates a molecular sieve with permeation holes of 20×20 nm. In blue-blooded gastropods, rhogocytes synthesize and secrete the respiratory protein hemocyanin, and it has been proposed-though not proven-that in the rare red-blooded snail species they might synthesize and secrete the he…

Electron Microscope TomographyRespiratory SystemCell PoresProtein SynthesisBiochemistryNucleic AcidsTissue DistributionHemoproteinsSecretory PathwayMultidisciplinaryBiomphalariabiologyQRImmunogold labellingAnatomyEndoplasmic ReticulaEndocytosisBody FluidsExtracellular MatrixCell biologyRespiratory proteinProtein TransportConnective TissueCell ProcessesSlit diaphragmMedicineAnatomyCellular Structures and OrganellesCellular TypesResearch ArticleCadmiumProtein StructureHistologyScienceMolecular Sequence DataBiosynthesisProtein ChemistryExocytosisNephrinImaging Three-DimensionalStress PhysiologicalAnimalsBiomphalaria glabrataAmino Acid SequenceEvolutionary BiologyCell MembraneBiology and Life SciencesProteinsMembrane ProteinsGlobulinsCell Biologybiology.organism_classificationCytoskeletal ProteinsBiological TissueMembrane proteinCytoplasmUltrastructurebiology.proteinExtracellular SpaceRibosomesZoologyPLoS ONE
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New perspectives on the renal slit diaphragm protein podocin.

2011

Podocin is a critical component of the glomerular filtration barrier, its mutations causing recessive steroid-resistant nephrotic syndrome. A GenBank analysis of the human podocin (NPHS2) gene resulted in the possible existence of a new splice variant of podocin in the kidney, missing the in-frame of exon 5, encoding the prohibitin homology domain. Using RT–polymerase chain reaction and immunoblotting followed by sequence analysis, we are for the first time able to prove the expression of a novel podocin isoform (isoform 2), exclusively and constitutively expressed in human podocytes. Furthermore, we reveal singular extrarenal podocin expression in human and murine testis. Our data show the…

Gene isoformAdultMalePathologymedicine.medical_specialtyendocrine systemkidneySertoli cellsBlotting WesternImmunoblottingMolecular Sequence Datatestisurologic and male genital diseasesReal-Time Polymerase Chain ReactionFilamentous actinPathology and Forensic MedicineSertoli cell-only syndromeMiceYoung AdultmedicineAnimalsHumansProtein IsoformsSertoli cell-only syndromeAmino Acid SequenceProhibitinAgedKidneyMicroscopy ConfocalbiologyBase Sequenceurogenital systemPodocytesGene Expression ProfilingIntracellular Signaling Peptides and ProteinsMembrane ProteinsisoformMiddle Agedmedicine.diseaseSertoli cellfemale genital diseases and pregnancy complicationsWT-1medicine.anatomical_structureSlit diaphragmPodocinbiology.proteinOriginal ArticlepodocinModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
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The insect nephrocyte is a podocyte-like cell with a filtration slit diaphragm.

2008

The nephron is the basic structural and functional unit of the vertebrate kidney. It is composed of a glomerulus, the site of ultrafiltration, and a renal tubule, along which the filtrate is modified. Although widely regarded as a vertebrate adaptation, 'nephron-like' features can be found in the excretory systems of many invertebrates, raising the possibility that components of the vertebrate excretory system were inherited from their invertebrate ancestors. Here we show that the insect nephrocyte has remarkable anatomical, molecular and functional similarity to the glomerular podocyte, a cell in the vertebrate kidney that forms the main size-selective barrier as blood is ultrafiltered to …

ImmunoglobulinsMuscle ProteinsNephronBiologyGlomerulus (kidney)urologic and male genital diseasesArticlePodocyteCell LineNephrin03 medical and health sciencesmedicineAnimalsDrosophila Proteins030304 developmental biologyNEPH10303 health sciencesMultidisciplinaryurogenital systemPodocytes030302 biochemistry & molecular biologyMembrane ProteinsAnatomyFiltration diaphragmCell biologymedicine.anatomical_structureDrosophila melanogasterNephrocyte diaphragmnephrocytePodocinbiology.proteinSlit diaphragm
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Propofol sedation reduces diaphragm activity in spontaneously breathing patients: ultrasound assessment.

2017

BACKGROUND: The diaphragm is the most important respiratory muscle in humans, and the close relationship between inspired volume and diaphragmatic movement in normal subjects has led to investigations into diaphragmatic activity using ultrasound, during spontaneous breathing and sedative drug infusion. METHODS: A total of 36 consecutive patients undergoing diagnostic procedures under deep propofol sedation were studied. Ultrasound measurements included the following: diaphragmatic thickening end-inspiration (TEI) and endexpiration (TEE). Diaphragmatic thickening fraction (DTF) was calculated from [(TEI TEE) / TEE] at various time points (at T0 basal; at T1 during propofol infusion; at T2 aw…

MaleDeep sedation; Diaphragm; Propofol; Ultrasonography; Anesthesiology and Pain MedicineRespiratory rateSedationdeep sedation; diaphragm; propofol; ultrasonographyDiaphragmHypnotics and SedativeDiaphragmatic breathing03 medical and health sciences0302 clinical medicine030202 anesthesiologySettore MED/41 - ANESTESIOLOGIARespiratory muscleMedicineHumansHypnotics and SedativesProspective StudiesPropofolUltrasonographybusiness.industryRespirationUltrasound030208 emergency & critical care medicineMiddle AgedDiaphragm (structural system)Prospective StudieAnesthesiology and Pain MedicineAnesthesiaBreathingFemalemedicine.symptomDeep SedationbusinessPropofolmedicine.drugHumanMinerva anestesiologica
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