Search results for "Kidney disease"

showing 10 items of 457 documents

Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA

2022

Contains fulltext : 248375.pdf (Publisher’s version ) (Closed access) BACKGROUND: Gitelman syndrome is the most frequent hereditary salt-losing tubulopathy characterized by hypokalemic alkalosis and hypomagnesemia. Gitelman syndrome is caused by biallelic pathogenic variants in SLC12A3, encoding the Na(+)-Cl(-) cotransporter (NCC) expressed in the distal convoluted tubule. Pathogenic variants of CLCNKB, HNF1B, FXYD2, or KCNJ10 may result in the same renal phenotype of Gitelman syndrome, as they can lead to reduced NCC activity. For approximately 10 percent of patients with a Gitelman syndrome phenotype, the genotype is unknown. METHODS: We identified mitochondrial DNA (mtDNA) variants in th…

MaleKidneyDISEASEion transportGenotypeSolute Carrier Family 12 Member 3Gitelman-s syndromeCHANNEL GENEChildRNA Transfer IlePHOSPHORYLATIONNCCbiologygenetic renal diseaseblood pressureMetabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]General MedicineMiddle Agedchronic kidney failureTUBULENa transportPedigreemitochondriaBARTTER-SYNDROMEPhenotypemedicine.anatomical_structureMitochondrial respiratory chainMAGNESIUMNephrologyChild Preschoolepithelial sodium transportFemaleGitelman SyndromeAdultMitochondrial DNAAdolescentGenotypehuman geneticsKCNJ10DNA MitochondrialModels BiologicalPolymorphism Single NucleotideRNA Transfer PheYoung AdultTubulopathymedicineHumansDistal convoluted tubuleHYPOMAGNESEMIAAgedCLCNKBNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]MITOCHONDRIAL-DNA MUTATIONBase SequenceInfantGitelman syndromemedicine.diseaseMolecular biologySODIUM-CHLORIDE COTRANSPORTERHEK293 CellsRenal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11]Basic ResearchMutationbiology.proteinNucleic Acid Conformationchronic kidney disease
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Encapsulating peritoneal sclerosis: do not be too late for the right diagnosis! Case report and short literature review

2020

Encapsulating peritoneal sclerosis (EPS) is a rare clinical syndrome characterized by an acquired, inflammatory fibrocollagenous membrane encasing the small intestine, resulting in symptoms of bowel obstruction. It is still unclear whether early surgical intervention has an advantage over conservative management, but, in most reviewed case reports, it is preferred to preserve the surgical management in patients not responding to conservative measures, or when bowel ischaemia is occurring. We report a case of a 58-year old patients, affected by chronic renal failure, on treatment with peritoneal dialysis, in which a late diagnosis of encapsulating peritoneal sclerosis was made, and where sur…

MaleLaparotomyPolycystic Kidney DiseasesDelayed DiagnosisPeritoneal FibrosisMiddle AgedConservative TreatmentSettore MED/18 - Chirurgia GeneraleFatal OutcomeEncapsulating peritoneal sclerosis (EPS)HumansKidney Failure ChronicTomography X-Ray ComputedPeritoneal Dialysis
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Severe Mediterranean spotted fever complicated by acute renal failure and herpetic oesophagitis

2010

Mediterranean spotted fever (MSF) is a tick-borne disease caused by Rickettsia conorii. Recently, complicated cases have been more frequently reported, even in previously healthy patients. We describe a case of severe MSF complicated by acute renal failure and associated with herpetic oesophagitis. Acyclovir therapy resulted in remission of oesophageal symptoms within 48 h.

MaleMicrobiology (medical)Settore MED/07 - Microbiologia E Microbiologia Clinicamedicine.medical_specialtySettore MED/17 - Malattie InfettiveMediterranean spotted fever renal failure herpetic oesophagitisAcyclovirHerpesvirus 1 HumanAntibodies ViralBoutonneuse FeverAntiviral AgentsMicrobiologyGastroenterologyPharmacotherapyInternal medicinemedicineEsophagitisHumansbiologybusiness.industryHerpes SimplexGeneral MedicineAcute Kidney InjuryMiddle Agedmedicine.diseasebiology.organism_classificationSpotted feverSurgeryBoutonneuse feverRickettsia conoriiTreatment OutcomeRickettsiosisViral diseaseRickettsia conoriibusinessEsophagitisKidney diseaseJournal of Medical Microbiology
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Incidence of hepatitis C virus infection in patients with chronic kidney disease on conservative therapy

2011

SummaryHepatitis C virus (HCV) infection is a never-ending public health problem. Many studies have investigated the incidence of HCV infection among dialysis patients, but there have only been a few epidemiological studies in renal conservative therapy. We studied 320 subjects with pre-dialysis chronic kidney disease living in Sicily, Italy. The incidence of HCV infection was 6.25%. In Europe, incidence ranges from 0.2% to 3.5%. It appears that the incidence of HCV infection is higher in the studied patient population than in the population as a whole.

MaleMicrobiology (medical)medicine.medical_specialtyHepatitis C virusPopulationPrevalence of infectionHepacivirusmedicine.disease_causeDialysis patientsRenal DialysisChronic kidney diseaseInternal medicineEpidemiologyHumansMedicineIn patientRenal Insufficiency ChroniceducationSicilyAgedAged 80 and overeducation.field_of_studybusiness.industryIncidencePublic healthIncidence (epidemiology)virus diseasesGeneral MedicineHepatitis C AntibodiesMiddle Agedmedicine.diseaseHepatitis Cdigestive system diseasesHCV infectionEpidemiologic StudiesInfectious DiseasesImmunoglobulin GImmunologyRNA ViralFemalePublic HealthbusinessKidney diseaseInternational Journal of Infectious Diseases
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Validation of the 2009 TNM Version in a Large Multi-Institutional Cohort of Patients Treated for Renal Cell Carcinoma: Are Further Improvements Neede…

2010

Background: A new edition of the TNM was recently released that includes modifications for the staging system of kidney cancers. Specifically, T2 cancers were subclassified into T2a and T2b ( 10 cm), tumors with renal vein involvement or perinephric fat involvement were classified as T3a cancers, and those with adrenal involvement were classified as T4 cancers. Objective: Our aim was to validate the recently released edition of the TNM staging system for primary tumor classification in kidney cancer. Design, setting, and participants: Our multicenter retrospective study consisted of 5339 patients treated in 16 academic Italian centers. Intervention: Patients underwent either radical or part…

MaleNephrologyOncologyIMPACTmedicine.medical_treatmentValidation of the 2009 TNM version in a large multi-institutional cohort of patients treated for renal cell carcinoma: are further improvements needed?Kidney neoplasm; Nephrectomy; Renal cell carcinoma; TNM; UrologyNephrectomyTNMCohort StudiesTNM; renal cell carcinomarenal cell carcinoma; staging systemPROPOSALKidney neoplasm; Nephrectomy; Renal cell carcinoma; TNMRenal cell carcinomaPRIMARY TUMOR CLASSIFICATIONstaging systemNEPHRECTOMYRECLASSIFICATIONkidney cancerRADICAL NEPHRECTOMYMiddle AgedKidney neoplasmPrimary tumorKidney NeoplasmsNephrectomyREVISIONclassificationCohortCUTOFFKidney neoplasm; Nephrectomy; Renal cell carcinoma; TNM; Aged; Carcinoma Renal Cell; Cohort Studies; Female; Humans; Kidney Neoplasms; Male; Middle Aged; Neoplasm Staging; Retrospective StudiesFemalekidney neoplasmHumanrenal cell carcinomamedicine.medical_specialtyUrologyTNM staging systemSTRATIFICATIONInternal medicinemedicineHumansCarcinoma Renal CellAgedNeoplasm StagingRetrospective Studiesbusiness.industrykidney neoplasm; renal cell carcinoma; TNM; NEPHRECTOMYCarcinomaRenal CellRetrospective cohort studymedicine.diseaseSurgerySIZECohort StudiebusinessKidney cancerKidney diseaseEuropean Urology
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Renal involvement in psychological eating disorders

2011

Psychological eating disorders – anorexia nervosa (AN), bulimia nervosa (BN), binge eating disorder – are an increasing public health problem with severe clinical manifestations: hypothermia, hypotension, electrolyte imbalance, endocrine disorders and kidney failure; they are of interest to nephrologists, but pathophysiological mechanisms in determining the renal involvement are still unclear. We describe pathophysiology, histological features and clinical manifestations of the most frequent psychological eating disorders: AN and BN. Regarding AN, we analyze the recent literature, and identify 3 principal pathways towards renal involvement: chronic dehydration-hypokalemia, nephrocalcinosis …

MaleNephrologymedicine.medical_specialtyAnorexia NervosaHypokalemiaBioinformaticsRhabdomyolysisAdipokinesBinge-eating disorderInternal medicineAnimalsHumansMedicineObesityBulimiaInflammationDehydrationGlomerulosclerosis Focal Segmentalbusiness.industryBulimia nervosaBulimia Nervosa.Acute kidney injuryGeneral MedicineKidney diseasemedicine.diseaseKidney diseases; Anorexia Nervosa; Bulimia Nervosa.NephrocalcinosisEating disordersEndocrinologyNephrologyAnorexia nervosa (differential diagnoses)CytokinesIntercellular Signaling Peptides and ProteinsFemaleKidney DiseasesNephrocalcinosisbusinessKidney disease
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Cardiovascular risk factors and the impact on prognosis in patients with chronic kidney disease secondary to autosomal dominant polycystic kidney dis…

2021

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease. There is an increased rate of cardiovascular disease (CVD) in ADPKD. In this study, we evaluate the prevalence of cardiovascular risk factors, the achievement rates for treatment goals and cardiovascular events (CVE) in ADPKD and their relations with asymptomatic CVD in CKD from other etiologies (CKDoe) and controls. Methods: We evaluated 2445 CKD patients (2010–2012). The information collected was: clinical, anthropometric and analytical parameters, treatments and CVD evaluation (intima-media thickness (IMT), atheromatous plaque presence and ankle-brachial index (ABI)). Laborator…

MaleNephrologymedicine.medical_specialtyAutosomal dominant polycystic kidney diseaseRenal functionComorbiditylcsh:RC870-923urologic and male genital diseasesCarotid Intima-Media ThicknessAsymptomaticNephropathyAutosomal dominant polycystic kidney diseaseInternal medicineChronic kidney diseasemedicineHumansAnkle Brachial Indexcardiovascular diseasesRenal Insufficiency ChronicProteinuriabusiness.industryMiddle AgedPolycystic Kidney Autosomal DominantPrognosislcsh:Diseases of the genitourinary system. Urologymedicine.diseaseCardiovascular diseasePlaque Atheroscleroticfemale genital diseases and pregnancy complicationsNephropathyCor MalaltiesBlood pressureCardiovascular DiseasesHeart Disease Risk FactorsNephrologyDisease ProgressionInsuficiència renal crònicaFemalemedicine.symptombusinessResearch ArticleKidney disease
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End Cutaneous Ureterostomy for the Management of Severe Hydronephrosis

2007

Purpose: Although rarely indicated, surgical treatment of severe megaureter can pose a formidable technical challenge, especially in the small infant. We present our experience and outcomes with end cutaneous ureterostomy as a temporizing adjunct to future ureteral reimplantation. Materials and Methods: We performed a retrospective cohort study of patients who underwent end cutaneous ureterostomy between 1993 and 2005. Patient demographics, surgical details and outcomes were recorded. Results: A total of 29 patients (22 males, 7 females) underwent diversion of 34 renal units. Primary megaureter was diagnosed in 15 patients (17 renal units). Secondary megaureter was found in 10 patients (12 …

MaleNephrologymedicine.medical_specialtyMegaureterUrologymedicine.medical_treatmentDermatologic Surgical ProceduresHydronephrosisSeverity of Illness IndexVesicoureteral refluxCohort StudiesUreterostomyInternal medicinemedicineHumansChildHydronephrosisUreterostomyRetrospective Studiesbusiness.industryUrinary diversionInfantRetrospective cohort studymedicine.diseaseSurgeryChild PreschoolFemaleureterostomy urinary diversion hydronephrosisbusinessKidney diseaseJournal of Urology
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Risk factors for high fall risk in elderly patients with chronic kidney disease

2022

Purpose: Patients with chronic kidney disease (CKD) usually represent an aging population, and both older age and CKD are associated with a higher risk of falling. Studies on risk factors among subjects with CKD are lacking. Methods: Records of outpatients from one geriatric clinic in Turkey were retrospectively reviewed. A result of ≥ 13.5 s on the timed up and go (TUG) test was accepted as a high risk of falls. Independent predictors of an increased risk of falls among subjects with CKD (estimated glomerular filtration rate of < 60 mL/min/1.73 m2) were identified using logistic regression models. Results: Patients with CKD (n = 205), represented the 20.2% of the entire cohort and was i…

MaleNephrologymedicine.medical_specialtyPopulation ageingFolic acid Gait Fall Chronic kidney diseaseUrology030232 urology & nephrologyRenal function030204 cardiovascular system & hematologyurologic and male genital diseasesLogistic regression03 medical and health scienceschemistry.chemical_compound0302 clinical medicineRisk FactorsInternal medicinemedicineVitamin D and neurologyHumansRenal Insufficiency ChronicAgedRetrospective StudiesAged 80 and overCreatininebusiness.industryAge Factorsmedicine.diseasefemale genital diseases and pregnancy complicationschemistryNephrologyHeybeli C. Kazancioglu R. Smith L. Veronese N. Soysal P. -Risk factors for high fall risk in elderly patients with chronic kidney disease.- International urology and nephrology 2021CohortAccidental FallsFemalebusinessKidney diseaseInternational Urology and Nephrology
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Ca2+-activated K+ channels mediate relaxation of forearm veins in chronic renal failure

2003

In arteries, agonists such as acetylcholine release an endothelium-derived hyperpolarizing factor (EDHF) that is neither nitric oxide nor prostacyclin.To examine the responses to acetylcholine in segments of forearm veins from patients with chronic renal failure who either had never received dialysis or had undergone long-term dialysis, and to determine the contribution of nitric oxide and EDHF to endothelium-dependent relaxation in veins from patients with chronic renal failure.Isometric tension was recorded in rings of forearm vein from 34 non-dialysed patients, 27 dialysed patients and 14 multiorgan donors (controls).Relaxation in response to acetylcholine was reduced in veins of non-dia…

MaleNitroprussidemedicine.medical_specialtyPhysiologyVasodilator AgentsVasodilationIn Vitro TechniquesNitric OxideVeinsNitric oxideBiological FactorsPotassium Channels Calcium-Activatedchemistry.chemical_compoundForearmQuinoxalinesInternal medicineInternal MedicinemedicineHumansEnzyme InhibitorsVeinOxadiazolesomega-N-MethylarginineVascular diseasebusiness.industryMiddle Agedmedicine.diseaseAcetylcholinePotassium channelVasodilationForearmEndocrinologymedicine.anatomical_structurechemistrycardiovascular systemKidney Failure ChronicFemaleNitric Oxide SynthaseCardiology and Cardiovascular MedicinebusinessAcetylcholineKidney diseasemedicine.drugJournal of Hypertension
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