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  1 / 12926 MEDLINE  
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[PMID]:29443737
[Au] Autor:Jung WJ; Jang JY; Park WY; Jeong SW; Lee HJ; Park SJ; Lee SH; Kim SG; Cha SW; Kim YS; Cho YD; Kim HS; Kim BS; Park S; Baymbajav B
[Ad] Endereço:Institute for Digestive Research, Digestive Disease Center, Department of Internal Medicine, College of Medicine, Soonchunhyang University, Seoul.
[Ti] Título:Effect of tenofovir on renal function in patients with chronic hepatitis B.
[So] Source:Medicine (Baltimore);97(7):e9756, 2018 Feb.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Tenofovir disoproxil fumarate (TDF) is widely used to treat patients with hepatitis B virus (HBV) infection. We investigated the effect of TDF on renal insufficiency in patients with chronic hepatitis B (CHB).A consecutive cohort analysis was applied to CHB patients taking prescribed TDF from January 2012 to May 2016 at Soonchunhyang University Seoul Hospital. Alterations over time in corrected calcium, phosphate, creatinine, and estimated glomerular filtration rate (eGFR) were analyzed using the generalized estimating equation method. The percentage increase in creatinine from baseline to the maximum creatinine level (delta creatinine) was compared according to the underlying disease using the Mann-Whitney U test. Cox proportional hazard regression model was used to determine risk factors associated with renal insufficiency.The baseline creatinine, eGFR, corrected calcium, and phosphate levels were 0.72 ±â€Š0.01 mg/dL (mean ±â€ŠSD), 106.37 ±â€Š1.06 mL/min/1.73 m, 8.82 ±â€Š0.04 mg/dL, and 3.42 ±â€Š0.05 mg/dL, respectively. The creatinine level had increased significantly at 12, 24, 48, 72, and 96 weeks, while the eGFR level had decreased significantly at these 5 time points. Multivariate analysis confirmed that age ≥60 years and the baseline bilirubin level were independently associated with the risk of renal insufficiency. Delta creatinine was significantly higher in patients with diabetes mellitus (DM) than in patients without DM.Renal function was decreased from baseline in CHB patients receiving TDF therapy, which indicates that the renal function of patients undergoing treatment with TDF should be monitored regularly. Old age, DM, and serum bilirubin were risk factors for the development of renal insufficiency in CHB patients receiving TDF therapy.
[Mh] Termos MeSH primário: Antivirais/efeitos adversos
Hepatite B Crônica/tratamento farmacológico
Insuficiência Renal/induzido quimicamente
Tenofovir/efeitos adversos
[Mh] Termos MeSH secundário: Adulto
Bilirrubina/sangue
Estudos de Coortes
Creatinina/sangue
Feminino
Taxa de Filtração Glomerular
Hepatite B Crônica/sangue
Seres Humanos
Masculino
Meia-Idade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antiviral Agents); 99YXE507IL (Tenofovir); AYI8EX34EU (Creatinine); RFM9X3LJ49 (Bilirubin)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180215
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009756


  2 / 12926 MEDLINE  
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[PMID]:29390441
[Au] Autor:Xu W; Gong F; Dong D; Chi B; Wang J
[Ad] Endereço:Department of Radiology, The First Hospital of Jilin University.
[Ti] Título:Left renal failure caused by chronic obstructive uropathy due to a uretero-inguinal hernia combined with contralateral renal pelvic carcinoma: A case report.
[So] Source:Medicine (Baltimore);96(51):e9133, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Although rare, cases of renal failure secondary to a uretero-inguinal hernia have been reported. PATIENT CONCERNS: Here, we report a case of left renal failure caused by chronic obstructive uropathy due to a uretero-inguinal hernia combined with contralateral renal pelvic carcinoma. DIAGNOSES: The present case highly indicated that a comprehensive examination is very important when diagnosing an inguinal hernia. In particular, it is necessary to check whether the ureter is involved or not. INTERVENTIONS: A computed tomography scan should be performed to a uretero-inguinal hernia patient. OUTCOMES: Unfortunately, this patient was diagnosed too late to attempt surgical management to restore the left renal functions. LESSONS: In our opinion, a computed tomography scan is highly recommended for an accurate diagnosis.
[Mh] Termos MeSH primário: Hérnia Inguinal/complicações
Neoplasias Renais/diagnóstico por imagem
Insuficiência Renal/etiologia
Obstrução Uretral/etiologia
[Mh] Termos MeSH secundário: Idoso
Hematúria/etiologia
Hérnia Inguinal/diagnóstico por imagem
Seres Humanos
Hidronefrose/diagnóstico por imagem
Hidronefrose/etiologia
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180220
[Lr] Data última revisão:
180220
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009133


  3 / 12926 MEDLINE  
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[PMID]:29384884
[Au] Autor:Xu M; Jiang T; Zhou Y; Yang X
[Ad] Endereço:Department of Cardiology, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, P.R. China.
[Ti] Título:Influence of echocardiographic measurements and renal impairments on the prognosis of fulminant myocarditis.
[So] Source:Medicine (Baltimore);97(5):e9812, 2018 Feb.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Fulminant myocarditis is a severe cardiac emergency that may lead to death if effective cardiopulmonary supports are not provided. This study aimed to evaluate the prognostic predictors in patients with fulminant myocarditis.We retrospectively analyzed the clinical characteristics, complications, laboratory findings, treatments, as well as electrocardiographic and echocardiographic data of 73 consecutive subjects diagnosed with fulminant myocarditis from June 2012 to June 2016. Logistic regression analysis was used to identify the independent predictive factors of nonsurvivor fulminant myocarditis.Ten patients and 63 patients were assigned to the nonsurvivor and survivor fulminant myocarditis groups, respectively. Patients in the nonsurvivor fulminant myocarditis group had higher heart rates; were more likely to develop clinical complications and supraventricular tachycardia (SVT); and had higher serum creatinine (Scr) level, and had higher white blood cell (WBC) counts, and lower abbreviated estimated glomerular filtration rates (eGFR) than the patients in the survivor fulminant myocarditis group. Moreover, we observed larger left atrium dimension (LAd), larger left ventricular end systolic dimensions, and lower left ventricular ejection fraction in the patients from the nonsurvivor fulminant myocarditis group than in those from the other group. A logistic regression model was constructed and demonstrated that eGFR and LAd were 2 independent predictors of mortality in patients with fulminant myocarditis.Higher heart rates, higher incidences of clinical complication, SVT, higher admission levels of Scr and eGFR, higher WBC counts, higher Scr and eGFR at stage of most severe renal damage, and abnormal echocardiographic findings were associated with high risk of mortality in patients with fulminant myocarditis. The major finding was that eGFR and LAd were independent predictors for in-hospital mortality in patients with fulminant myocarditis.
[Mh] Termos MeSH primário: Ecocardiografia
Miocardite/complicações
Miocardite/diagnóstico por imagem
Insuficiência Renal/complicações
[Mh] Termos MeSH secundário: Adulto
Eletrocardiografia
Feminino
Mortalidade Hospitalar
Seres Humanos
Modelos Logísticos
Masculino
Meia-Idade
Miocardite/mortalidade
Prognóstico
Insuficiência Renal/diagnóstico
Insuficiência Renal/mortalidade
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180221
[Lr] Data última revisão:
180221
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180201
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009812


  4 / 12926 MEDLINE  
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[PMID]:28466968
[Au] Autor:Geard A; Pule GD; Chetcha Chemegni B; Ngo Bitoungui VJ; Kengne AP; Chimusa ER; Wonkam A
[Ad] Endereço:Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
[Ti] Título:Clinical and genetic predictors of renal dysfunctions in sickle cell anaemia in Cameroon.
[So] Source:Br J Haematol;178(4):629-639, 2017 08.
[Is] ISSN:1365-2141
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Micro-albuminuria and glomerular hyperfiltration are primary indicators of renal dysfunctions in Sickle Cell Disease (SCD), with more severe manifestations previously associated with variants in APOL1 and HMOX1 among African Americans. We have investigated 413 SCD patients from Cameroon. Anthropometric variables, haematological indices, crude albuminuria, albumin-to-creatinine ratio (ACR) and estimated glomerular filtration rate (eGFR) were measured. Patients were genotyped for 3·7 kb alpha-globin gene (HBA1/HBA2) deletion, and for variants in APOL1 (G1/G2; rs60910145, rs73885319, rs71785313) and HMOX1 (rs3074372, rs743811). The median age was 15 years; the majority presented with micro-albuminuria (60·9%; n = 248), and approximately half with glomerular hyperfiltration (49·5%; n = 200). Age, male sex, haemoglobin level, leucocyte count, mean corpuscular volume, blood pressure, body mass index and creatinine levels significantly affected albuminuria and/or eGFR. Co-inheritance of alpha-thalassaemia was protective against macro-albuminuria (P = 0·03). APOL1 G1/G2 risk variants were significantly associated with the ACR (P = 0·01) and borderline with eGFR (P = 0·07). HMOX1 - rs743811 was borderline associated with micro-albuminuria (P = 0·07) and macro-albuminuria (P = 0·06). The results revealed a high proportion of micro-albuminuria and glomerular hyperfiltration among Cameroonian SCD patients, and support the possible use of targeted genetic biomarkers for risks assessment.
[Mh] Termos MeSH primário: Anemia Falciforme/complicações
Insuficiência Renal/etiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Albuminúria/epidemiologia
Albuminúria/etiologia
Albuminúria/genética
Anemia Falciforme/epidemiologia
Anemia Falciforme/genética
Antropometria/métodos
Apolipoproteína L1
Apolipoproteínas/genética
Camarões/epidemiologia
Criança
Pré-Escolar
Feminino
Deleção de Genes
Predisposição Genética para Doença
Variação Genética
Taxa de Filtração Glomerular/genética
Hemoglobina A Glicada/genética
Heme Oxigenase-1/genética
Seres Humanos
Lipoproteínas HDL/genética
Masculino
Meia-Idade
Estudos Prospectivos
Insuficiência Renal/epidemiologia
Insuficiência Renal/genética
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (APOL1 protein, human); 0 (Apolipoprotein L1); 0 (Apolipoproteins); 0 (Glycated Hemoglobin A); 0 (Lipoproteins, HDL); EC 1.14.14.18 (HMOX1 protein, human); EC 1.14.14.18 (Heme Oxygenase-1)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:180209
[Lr] Data última revisão:
180209
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170504
[St] Status:MEDLINE
[do] DOI:10.1111/bjh.14724


  5 / 12926 MEDLINE  
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[PMID]:29338014
[Au] Autor:Yamanouchi M; Hoshino J; Ubara Y; Takaichi K; Kinowaki K; Fujii T; Ohashi K; Mise K; Toyama T; Hara A; Kitagawa K; Shimizu M; Furuichi K; Wada T
[Ad] Endereço:Department of Nephrology and Laboratory Medicine, Faculty of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan.
[Ti] Título:Value of adding the renal pathological score to the kidney failure risk equation in advanced diabetic nephropathy.
[So] Source:PLoS One;13(1):e0190930, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: There have been a limited number of biopsy-based studies on diabetic nephropathy, and therefore the clinical importance of renal biopsy in patients with diabetes in late-stage chronic kidney disease (CKD) is still debated. We aimed to clarify the renal prognostic value of pathological information to clinical information in patients with diabetes and advanced CKD. METHODS: We retrospectively assessed 493 type 2 diabetics with biopsy-proven diabetic nephropathy in four centers in Japan. 296 patients with stage 3-5 CKD at the time of biopsy were identified and assigned two risk prediction scores for end-stage renal disease (ESRD): the Kidney Failure Risk Equation (KFRE, a score composed of clinical parameters) and the Diabetic Nephropathy Score (D-score, a score integrated pathological parameters of the Diabetic Nephropathy Classification by the Renal Pathology Society (RPS DN Classification)). They were randomized 2:1 to development and validation cohort. Hazard Ratios (HR) of incident ESRD were reported with 95% confidence interval (CI) of the KFRE, D-score and KFRE+D-score in Cox regression model. Improvement of risk prediction with the addition of D-score to the KFRE was assessed using c-statistics, continuous net reclassification improvement (NRI), and integrated discrimination improvement (IDI). RESULTS: During median follow-up of 1.9 years, 194 patients developed ESRD. The cox regression analysis showed that the KFRE,D-score and KFRE+D-score were significant predictors of ESRD both in the development cohort and in the validation cohort. The c-statistics of the D-score was 0.67. The c-statistics of the KFRE was good, but its predictive value was weaker than that in the miscellaneous CKD cohort originally reported (c-statistics, 0.78 vs. 0.90) and was not significantly improved by adding the D-score (0.78 vs. 0.79, p = 0.83). Only continuous NRI was positive after adding the D-score to the KFRE (0.4%; CI: 0.0-0.8%). CONCLUSIONS: We found that the predict values of the KFRE and the D-score were not as good as reported, and combining the D-score with the KFRE did not significantly improve prediction of the risk of ESRD in advanced diabetic nephropathy. To improve prediction of renal prognosis for advanced diabetic nephropathy may require different approaches with combining clinical and pathological parameters that were not measured in the KFRE and the RPS DN Classification.
[Mh] Termos MeSH primário: Nefropatias Diabéticas/patologia
[Mh] Termos MeSH secundário: Idoso
Biópsia
Estudos de Coortes
Diabetes Mellitus Tipo 2/complicações
Diabetes Mellitus Tipo 2/patologia
Nefropatias Diabéticas/complicações
Progressão da Doença
Feminino
Seres Humanos
Japão
Rim/patologia
Masculino
Meia-Idade
Prognóstico
Modelos de Riscos Proporcionais
Insuficiência Renal/etiologia
Insuficiência Renal/patologia
Insuficiência Renal Crônica/etiologia
Insuficiência Renal Crônica/patologia
Estudos Retrospectivos
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180205
[Lr] Data última revisão:
180205
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180117
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190930


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[PMID]:29320657
[Au] Autor:Hibbert KA; Shepard JO; Lane RJ; Azar MM
[Ad] Endereço:From the Departments of Medicine (K.A.H., R.J.L.), Radiology (J.-A.O.S.), and Pathology (M.M.A.), Massachusetts General Hospital, and the Departments of Medicine (K.A.H., R.J.L.), Radiology (J.-A.O.S.), and Pathology (M.M.A.), Harvard Medical School - both in Boston.
[Ti] Título:Case 1-2018. A 39-Year-Old Woman with Rapidly Progressive Respiratory Failure.
[So] Source:N Engl J Med;378(2):182-190, 2018 01 11.
[Is] ISSN:1533-4406
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Infecções por Adenoviridae/diagnóstico
Adenoviridae/isolamento & purificação
Pulmão/patologia
Infecções Oportunistas/diagnóstico
Insuficiência Respiratória/etiologia
[Mh] Termos MeSH secundário: Infecções por Adenoviridae/tratamento farmacológico
Adulto
Antivirais/efeitos adversos
Antivirais/uso terapêutico
Citosina/efeitos adversos
Citosina/análogos & derivados
Citosina/uso terapêutico
Diagnóstico Diferencial
Feminino
Seres Humanos
Hospedeiro Imunocomprometido
Leucemia Mieloide Aguda/complicações
Leucemia Mieloide Aguda/terapia
Pulmão/diagnóstico por imagem
Nasofaringe/virologia
Infecções Oportunistas/tratamento farmacológico
Organofosfonatos/efeitos adversos
Organofosfonatos/uso terapêutico
Radiografia Torácica
Insuficiência Renal/induzido quimicamente
Transplante de Células-Tronco/efeitos adversos
Tomografia Computadorizada por Raios X
Carga Viral
[Pt] Tipo de publicação:CASE REPORTS; CLINICAL CONFERENCE; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antiviral Agents); 0 (Organophosphonates); 8J337D1HZY (Cytosine); JIL713Q00N (cidofovir)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180118
[Lr] Data última revisão:
180118
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180111
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMcpc1712222


  7 / 12926 MEDLINE  
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[PMID]:27771720
[Au] Autor:Rebholz CM; Tin A; Liu Y; Kuczmarski MF; Evans MK; Zonderman AB; Crews DC
[Ad] Endereço:Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Md., USA.
[Ti] Título:Dietary Magnesium and Kidney Function Decline: The Healthy Aging in Neighborhoods of Diversity across the Life Span Study.
[So] Source:Am J Nephrol;44(5):381-387, 2016.
[Is] ISSN:1421-9670
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Prior studies suggest that certain aspects of the diet related to magnesium intake, such as dietary acid load, protein intake and dietary patterns rich in fruits and vegetables, may impact kidney disease risk. We hypothesized that lower dietary magnesium intake would be prospectively associated with more rapid kidney function decline. METHODS: Among participants in the Healthy Aging in Neighborhoods of Diversity across the Life Span study with estimated glomerular filtration rate (eGFR) ≥60 ml/min/1.73 m2 at baseline (2004-2009), dietary magnesium intake was calculated from two 24-hour dietary recalls. Rapid decline was defined as ≥3% eGFR decline per year. RESULTS: Median (25th-75th percentile) dietary magnesium intake was 116 (96-356) mg/1,000 kcal. Among 1,252 participants, those with lower dietary magnesium intake were younger, and were more likely to be African-American men. A total of 177 participants (14.1%) experienced rapid eGFR decline over a median follow-up of 5 years. Lower dietary magnesium intake was significantly associated with a greater odds of rapid eGFR decline (OR for tertile 1 vs. 3: 2.02, 95% CI 1.05-3.86, p value for trend across tertiles = 0.02) in analyses adjusted for sociodemographics (age, sex, race, education level, health insurance status, poverty status), kidney disease risk factors (smoking status, diabetes, hemoglobin A1c, hypertension, body mass index), baseline eGFR and dietary factors (total energy intake; diet quality; dietary intake of fiber, sodium, calcium, potassium and phosphorus). CONCLUSIONS: In this urban population, lower dietary magnesium intake was independently associated with greater odds of rapid kidney function decline.
[Mh] Termos MeSH primário: Rim/fisiologia
Deficiência de Magnésio/complicações
Magnésio/administração & dosagem
Insuficiência Renal/etiologia
[Mh] Termos MeSH secundário: Adulto
Envelhecimento/metabolismo
Inquéritos sobre Dietas
Feminino
Taxa de Filtração Glomerular
Seres Humanos
Magnésio/metabolismo
Masculino
Meia-Idade
Estudos Prospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
I38ZP9992A (Magnesium)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180118
[Lr] Data última revisão:
180118
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161025
[St] Status:MEDLINE


  8 / 12926 MEDLINE  
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[PMID]:29218975
[Au] Autor:Bohra M; Novak M
[Ti] Título:Opportunities and challenges caring for young adults on hemodialysis awaiting transplant.
[So] Source:CANNT J;24(3):25, 2014 Jul-Sep.
[Is] ISSN:1498-5136
[Cp] País de publicação:Canada
[La] Idioma:eng
[Mh] Termos MeSH primário: Atitude Frente à Saúde
Transplante de Rim/psicologia
Recursos Humanos de Enfermagem no Hospital/psicologia
Pacientes/psicologia
Diálise Renal/enfermagem
Diálise Renal/psicologia
Insuficiência Renal/terapia
[Mh] Termos MeSH secundário: Atitude do Pessoal de Saúde
Feminino
Seres Humanos
Masculino
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180105
[Lr] Data última revisão:
180105
[Sb] Subgrupo de revista:N
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE


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[PMID]:28747315
[Au] Autor:Dominguez JH; Liu Y; Gao H; Dominguez JM; Xie D; Kelly KJ
[Ad] Endereço:Nephrology Division, Department of Medicine, and.
[Ti] Título:Renal Tubular Cell-Derived Extracellular Vesicles Accelerate the Recovery of Established Renal Ischemia Reperfusion Injury.
[So] Source:J Am Soc Nephrol;28(12):3533-3544, 2017 Dec.
[Is] ISSN:1533-3450
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Ischemic renal injury is a complex syndrome; multiple cellular abnormalities cause accelerating cycles of inflammation, cellular damage, and sustained local ischemia. There is no single therapy that effectively resolves the renal damage after ischemia. However, infusions of normal adult rat renal cells have been a successful therapy in several rat renal failure models. The sustained broad renal benefit achieved by relatively few donor cells led to the hypothesis that extracellular vesicles (EV, largely exosomes) derived from these cells are the therapeutic effector We now show that EV from adult rat renal tubular cells significantly improved renal function when administered intravenously 24 and 48 hours after renal ischemia in rats. Additionally, EV treatment significantly improved renal tubular damage, 4-hydroxynanoneal adduct formation, neutrophil infiltration, fibrosis, and microvascular pruning. EV therapy also markedly reduced the large renal transcriptome drift observed after ischemia. These data show the potential utility of EV to limit severe renal ischemic injury after the occurrence.
[Mh] Termos MeSH primário: Vesículas Extracelulares
Túbulos Renais/metabolismo
Rim/metabolismo
Traumatismo por Reperfusão/patologia
[Mh] Termos MeSH secundário: Lesão Renal Aguda/patologia
Aldeídos/química
Animais
Comunicação Celular
Modelos Animais de Doenças
Exossomos/metabolismo
Feminino
Perfilação da Expressão Gênica
Genótipo
Hipóxia/patologia
Rim/patologia
Microcirculação
Neutrófilos/metabolismo
Fenótipo
RNA Mensageiro/metabolismo
Ratos
Ratos Sprague-Dawley
Insuficiência Renal
Fatores de Tempo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Aldehydes); 0 (RNA, Messenger); K1CVM13F96 (4-hydroxy-2-nonenal)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171226
[Lr] Data última revisão:
171226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170728
[St] Status:MEDLINE
[do] DOI:10.1681/ASN.2016121278


  10 / 12926 MEDLINE  
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[PMID]:29054766
[Au] Autor:Liu J; Wang P; Huang J; Yu Z
[Ad] Endereço:Department of Pediatrics, Fuzhou Dongfang Hospital, Second Military Medical University, Fuzhou 350025, Fujian, China.
[Ti] Título:Rethinking genotype-phenotype correlations in papillorenal syndrome: a case report on an unusual congenital camptodactyly and skeletal deformity with a heterogeneous PAX2 mutation of hexanucleotide duplication.
[So] Source:Gene;641:74-77, 2018 Jan 30.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Papillorenal syndrome (PRS), an autosomal dominant inherited condition, is clinically featured by renal hypoplasia and optic nerve dysplasia. Based on current knowledge of genotype-phenotype correlations in PRS, mutations in the Paired box 2 (PAX2) gene have been recognized as a critical pathogenesis of typical renal and optic disease manifestations. However, little information is currently available on the skeletal abnormalities of PRS and the potential contribution of PAX2 mutations. Here, we present a case of a 10-year-old female PRS patient with the typical features of chronic renal failure and severe myopia, but was unexpectedly discovered camptodactyly of her left middle finger which affects the proximal interphalangeal joint. Pathologically, the camptodactyly was further indicated by radiology as a skeletal deformity, demonstrating a decline of bone mineral density and disappearance of joint space. Molecular diagnostics revealed a heterozygous mutation, 220_225dup, in the exon 3 of her PAX2 gene, which is de novo considering the lack of this mutation in her non-consanguineous parents. This mutation leads to duplication of glutamic acid at position 74 and tyrosine at position 75 in PAX2 protein, which may influence the DNA-binding function. Besides, the absence of Spalt like transcription factor 4 (SALL4) mutation excluded the diagnosis of acro-renal-ocular syndrome (AROS), of which clinical characteristics are similar to our patient's. This case unravels a previously unrecognized phenotype of camptodactyly due to a significant skeletal deformity of PRS with a heterogeneous PAX2 mutation of hexanucleotide duplication. This report challenges against the current belief of genotype-phenotype correlations in PRS.
[Mh] Termos MeSH primário: Coloboma/genética
Articulações dos Dedos/anormalidades
Deformidades Congênitas da Mão/genética
Fator de Transcrição PAX2/genética
Insuficiência Renal/genética
Refluxo Vesicoureteral/genética
[Mh] Termos MeSH secundário: Densidade Óssea/genética
Criança
Coloboma/patologia
Feminino
Seres Humanos
Falência Renal Crônica/genética
Miopia/genética
Insuficiência Renal/patologia
Fatores de Transcrição/genética
Refluxo Vesicoureteral/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PAX2 Transcription Factor); 0 (PAX2 protein, human); 0 (SALL4 protein, human); 0 (Transcription Factors)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171128
[Lr] Data última revisão:
171128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171022
[St] Status:MEDLINE



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