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[PMID]:29073906
[Au] Autor:Yang A; Kim J; Ki CS; Hong SH; Cho SY; Jin DK
[Ad] Endereço:Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea.
[Ti] Título:HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.
[So] Source:BMC Med Genet;18(1):121, 2017 Oct 26.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare genetic disorder with high phenotypic heterogeneity caused by haploinsufficiency of the GATA3 gene on chromosome 10p14-p15. For these reasons, the diagnosis of HDR syndrome is challenging and requires a high index of suspicion as well as genetic analysis. CASE PRESENTATION: A 14-month-old boy, with sensorineural hearing loss in both ears, showed typical radiological features of X-linked stapes gusher on preoperative temporal bone computed tomography (CT) for cochlear implantations. Then after his discharge from hospital, he suffered a hypocalcemic seizure and we discovered a renal cyst during investigation of hypocalcemia. He was finally diagnosed with HDR syndrome by clinical findings, which were confirmed by molecular genetic testing. Direct sequencing of the GATA3 gene showed a heterozygous 2-bp deletion (c.1201_1202delAT), which is predicted to cause a frameshift of the reading frame (p.Met401Valfs*106). CONCLUSIONS: To our knowledge, this is the first case of HDR syndrome with a novel de novo variant mimicking a congenital X-linked stapes gusher syndrome. Novel mutations and the diversity of clinical manifestations expand the genotypic and phenotypic spectrum of HDR syndrome. Diagnosis of HDR syndrome is still challenging, but clinicians should consider it in their differential diagnosis for children with a wide range of clinical manifestations including hypocalcemia induced seizures and deafness. We hope that this case will contribute to further understanding and studies of HDR-associated GATA3 mutations.
[Mh] Termos MeSH primário: Cromossomos Humanos Par 10/química
Implante Coclear
Mutação da Fase de Leitura
Fator de Transcrição GATA3/genética
Perda Auditiva Neurossensorial/diagnóstico
Hipoparatireoidismo/diagnóstico
Nefrose/diagnóstico
[Mh] Termos MeSH secundário: Diagnóstico Diferencial
Expressão Gênica
Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico
Doenças Genéticas Ligadas ao Cromossomo X/genética
Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia
Haploinsuficiência
Perda Auditiva Condutiva/diagnóstico
Perda Auditiva Condutiva/genética
Perda Auditiva Condutiva/fisiopatologia
Perda Auditiva Neurossensorial/genética
Perda Auditiva Neurossensorial/fisiopatologia
Perda Auditiva Neurossensorial/cirurgia
Heterozigoto
Seres Humanos
Hipoparatireoidismo/genética
Hipoparatireoidismo/fisiopatologia
Hipoparatireoidismo/cirurgia
Lactente
Masculino
Nefrose/genética
Nefrose/fisiopatologia
Nefrose/cirurgia
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GATA3 Transcription Factor); 0 (GATA3 protein, human)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171102
[Lr] Data última revisão:
171102
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171028
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0484-6


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[PMID]:28805828
[Au] Autor:Braun DA; Rao J; Mollet G; Schapiro D; Daugeron MC; Tan W; Gribouval O; Boyer O; Revy P; Jobst-Schwan T; Schmidt JM; Lawson JA; Schanze D; Ashraf S; Ullmann JFP; Hoogstraten CA; Boddaert N; Collinet B; Martin G; Liger D; Lovric S; Furlano M; Guerrera IC; Sanchez-Ferras O; Hu JF; Boschat AC; Sanquer S; Menten B; Vergult S; De Rocker N; Airik M; Hermle T; Shril S; Widmeier E; Gee HY; Choi WI; Sadowski CE; Pabst WL; Warejko JK; Daga A; Basta T; Matejas V; Scharmann K; Kienast SD; Behnam B; Beeson B; Begtrup A; Bruce M; Ch'ng GS; Lin SP
[Ad] Endereço:Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
[Ti] Título:Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
[So] Source:Nat Genet;49(10):1529-1538, 2017 Oct.
[Is] ISSN:1546-1718
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS. CRISPR-Cas9 knockout in zebrafish and mice recapitulated the human phenotype of primary microcephaly and resulted in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibited cell proliferation, which human mutations did not rescue. Furthermore, knockdown of these genes impaired protein translation, caused endoplasmic reticulum stress, activated DNA-damage-response signaling, and ultimately induced apoptosis. Knockdown of OSGEP or TP53RK induced defects in the actin cytoskeleton and decreased the migration rate of human podocytes, an established intermediate phenotype of SRNS. We thus identified four new monogenic causes of GAMOS, describe a link between KEOPS function and human disease, and delineate potential pathogenic mechanisms.
[Mh] Termos MeSH primário: Hérnia Hiatal/genética
Microcefalia/genética
Complexos Multiproteicos/genética
Mutação
Nefrose/genética
[Mh] Termos MeSH secundário: Animais
Apoptose/genética
Sistemas CRISPR-Cas
Proteínas de Transporte/genética
Movimento Celular
Citoesqueleto/ultraestrutura
Reparo do DNA/genética
Estresse do Retículo Endoplasmático/genética
Técnicas de Inativação de Genes
Seres Humanos
Peptídeos e Proteínas de Sinalização Intracelular/deficiência
Peptídeos e Proteínas de Sinalização Intracelular/genética
Metaloendopeptidases/deficiência
Metaloendopeptidases/genética
Camundongos
Modelos Moleculares
Síndrome Nefrótica/genética
Síndrome Nefrótica/patologia
Podócitos/metabolismo
Podócitos/ultraestrutura
Conformação Proteica
Proteínas Serina-Treonina Quinases/deficiência
Proteínas Serina-Treonina Quinases/genética
Processamento Pós-Transcricional do RNA/genética
RNA de Transferência/metabolismo
Homeostase do Telômero/genética
Peixe-Zebra
Proteínas de Peixe-Zebra/deficiência
Proteínas de Peixe-Zebra/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Carrier Proteins); 0 (Intracellular Signaling Peptides and Proteins); 0 (LAGE3 protein, human); 0 (Multiprotein Complexes); 0 (TPRKB protein, human); 0 (Zebrafish Proteins); 9014-25-9 (RNA, Transfer); EC 2.7.11.1 (Protein-Serine-Threonine Kinases); EC 2.7.11.1 (TP53RK protein, human); EC 3.4.24.- (Metalloendopeptidases); EC 3.4.24.57 (O-sialoglycoprotein endopeptidase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170815
[St] Status:MEDLINE
[do] DOI:10.1038/ng.3933


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[PMID]:28759006
[Au] Autor:Hosoe-Nagai Y; Hidaka T; Sonoda A; Sasaki Y; Yamamoto-Nonaka K; Seki T; Asao R; Tanaka E; Trejo JAO; Kodama F; Takagi M; Tada N; Ueno T; Nishinakamura R; Tomino Y; Asanuma K
[Ad] Endereço:Division of Nephrology, Department of Internal Medicine, Juntendo University Faculty of Medicine, Tokyo, Japan.
[Ti] Título:Re-expression of Sall1 in podocytes protects against adriamycin-induced nephrosis.
[So] Source:Lab Invest;97(11):1306-1320, 2017 Nov.
[Is] ISSN:1530-0307
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The highly conserved spalt (sal) gene family members encode proteins characterized by multiple double zinc finger motifs of the C2H2 type. Humans and mice each have four known Sal-like genes (SALL1-4 in humans and Sall1-4 in mice). Sall1 is known to have a crucial role in kidney development. To explore the significance of Sall1 in differentiated podocytes, we investigated podocyte-specific Sall1-deficient mice (Sall1 KO ° ° ° °) using a podocin-Cre/loxP system and siRNA Sall1 knockdown (Sall1 KD) podocytes. Under physiological conditions, Sall1 KO ° ° ° ° mice exhibited no proteinuria during their lifetime, but foot-process effacement was detected in some of the podocytes. To elucidate the role of Sall1 in injured podocytes, we used an adriamycin (ADR)-induced model of nephrosis and glomerulosclerosis. Surprisingly, the expression of Sall1 was elevated in control mice on day 14 after ADR injection. On day 28 after ADR injection, Sall1 KO ° ° ° ° mice exhibited significantly higher levels of proteinuria and higher numbers of sclerotic glomeruli. Differentiated Sall1 KD podocytes showed a loss of synaptopodin, suppressed stress fiber formation, and, ultimately, impaired directed cell migration. In addition, the loss of Sall1 increased the number of apoptotic podocytes following ADR treatment. These results indicated that Sall1 has a protective role in podocytes; thus, we investigated the endoplasmic reticulum stress marker GRP78. GRP78 expression was higher in ADR-treated Sall1 KO ° ° ° ° mice than in control mice. Sall1 appeared to influence the expression of GRP78 in injured podocytes. These results suggest that Sall1 is associated with actin reorganization, endoplasmic reticulum stress, and apoptosis in injured podocytes. These protective aspects of Sall1 re-expression in injured podocytes may have the potential to reduce apoptosis and possibly glomerulosclerosis.
[Mh] Termos MeSH primário: Antibióticos Antineoplásicos/efeitos adversos
Doxorrubicina/efeitos adversos
Rim/efeitos dos fármacos
Nefrose/prevenção & controle
Podócitos/metabolismo
Inibidores da Topoisomerase II/efeitos adversos
Fatores de Transcrição/metabolismo
[Mh] Termos MeSH secundário: Citoesqueleto de Actina/efeitos dos fármacos
Citoesqueleto de Actina/metabolismo
Citoesqueleto de Actina/patologia
Animais
Apoptose/efeitos dos fármacos
Biomarcadores
Linhagem Celular Transformada
Movimento Celular/efeitos dos fármacos
Cruzamentos Genéticos
Estresse do Retículo Endoplasmático/efeitos dos fármacos
Regulação da Expressão Gênica/efeitos dos fármacos
Proteínas de Choque Térmico/genética
Proteínas de Choque Térmico/metabolismo
Rim/metabolismo
Rim/patologia
Camundongos Knockout
Camundongos Transgênicos
Proteínas dos Microfilamentos/genética
Proteínas dos Microfilamentos/metabolismo
Nefrose/induzido quimicamente
Nefrose/metabolismo
Nefrose/patologia
Podócitos/efeitos dos fármacos
Podócitos/patologia
Interferência de RNA
Proteínas Recombinantes/metabolismo
Fatores de Transcrição/antagonistas & inibidores
Fatores de Transcrição/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antibiotics, Antineoplastic); 0 (Biomarkers); 0 (Heat-Shock Proteins); 0 (Microfilament Proteins); 0 (Recombinant Proteins); 0 (Sall1 protein, mouse); 0 (Synpo protein, mouse); 0 (Topoisomerase II Inhibitors); 0 (Transcription Factors); 0 (molecular chaperone GRP78); 80168379AG (Doxorubicin)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170801
[St] Status:MEDLINE
[do] DOI:10.1038/labinvest.2017.69


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[PMID]:28566604
[Au] Autor:Kamezaki M; Kusaba T; Adachi T; Yamashita N; Nakata M; Ota N; Shiotsu Y; Ishida M; Usui T; Tamagaki K
[Ad] Endereço:Division of Nephrology, Department of Medicine, Kyoto Prefectural University of Medicine, Japan.
[Ti] Título:Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene.
[So] Source:Intern Med;56(11):1393-1397, 2017.
[Is] ISSN:1349-7235
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo:Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant disease caused by GATA3 mutations. Although several cases with variable renal features have been reported, the presence of histological changes within the glomeruli in adult patients is unclear. We herein report an adult case of HDR syndrome with a novel p.C288W (TGC>TGG) missense mutation in GATA3. His renal histology showed a membranoproliferative glomerulonephritis-like glomerular lesion. Additional renal histological analyses of HDR syndrome patients will be needed to clarify the role of GATA3 in both the developing and adult kidney.
[Mh] Termos MeSH primário: Glomerulonefrite/etiologia
Perda Auditiva Neurossensorial/complicações
Perda Auditiva Neurossensorial/genética
Hipoparatireoidismo/complicações
Hipoparatireoidismo/genética
Nefrose/complicações
Nefrose/genética
[Mh] Termos MeSH secundário: Fator de Transcrição GATA3
Seres Humanos
Masculino
Meia-Idade
Mutação de Sentido Incorreto
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GATA3 Transcription Factor); 0 (GATA3 protein, human)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171108
[Lr] Data última revisão:
171108
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170602
[St] Status:MEDLINE
[do] DOI:10.2169/internalmedicine.56.7930


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[PMID]:28442646
[Au] Autor:Bonsembiante F; Centelleghe C; Rossi G; Giglio S; Madeo E; Gelain ME; Mazzariol S
[Ad] Endereço:Department of Comparative Biomedicine and Food Science, University of Padua, 35020, Legnaro, Padua, Italy.
[Ti] Título:Clinico-pathological findings in a striped dolphin (Stenella coeruleoalba) affected by rhabdomyolysis and myoglobinuric nephrosis (capture myopathy).
[So] Source:J Vet Med Sci;79(6):1013-1018, 2017 Jun 10.
[Is] ISSN:1347-7439
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo:A striped dolphin (Stenella coeruleoalba) calf stranded alive because of a Salter-Harris fracture type 1 of a caudal vertebra and remained in a provisional rehabilitation facility for 3 days where the fracture stabilization was attempted, but he died the day after bandaging. Serum and urine samples were collected during hospitalization (days 1, 2 and 3 serum and day 2 urine). Serum analysis showed increased urea, alanine transaminase, aspartate transaminase, and serum amyloid A values, while creatinine was below the lower limit. Urine analysis showed urinary protein-to-creatinine ratio of 5.3 with glomerular proteinuria. Postmortem analyses demonstrated a severe rhabdomyolysis and myoglobinuric nephrosis, suggestive of capture myopathy syndrome. We report, for the first time, the clinico-pathological changes during this condition in a striped dolphin.
[Mh] Termos MeSH primário: Nefrose/veterinária
Rabdomiólise/veterinária
Stenella
[Mh] Termos MeSH secundário: Animais
Imobilização/veterinária
Masculino
Nefrose/sangue
Nefrose/patologia
Nefrose/urina
Rabdomiólise/sangue
Rabdomiólise/patologia
Rabdomiólise/urina
Fraturas Salter-Harris/patologia
Fraturas Salter-Harris/veterinária
Stenella/sangue
Stenella/urina
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171031
[Lr] Data última revisão:
171031
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170427
[St] Status:MEDLINE
[do] DOI:10.1292/jvms.17-0023


  6 / 1697 MEDLINE  
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[PMID]:28424276
[Au] Autor:Sharma R; Waller AP; Agrawal S; Wolfgang KJ; Luu H; Shahzad K; Isermann B; Smoyer WE; Nieman MT; Kerlin BA
[Ad] Endereço:Center for Clinical and Translational Research, The Research Institute at Nationwide Children's Hospital.
[Ti] Título:Thrombin-Induced Podocyte Injury Is Protease-Activated Receptor Dependent.
[So] Source:J Am Soc Nephrol;28(9):2618-2630, 2017 Sep.
[Is] ISSN:1533-3450
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Nephrotic syndrome is characterized by massive proteinuria and injury of specialized glomerular epithelial cells called podocytes. Studies have shown that, whereas low-concentration thrombin may be cytoprotective, higher thrombin concentrations may contribute to podocyte injury. We and others have demonstrated that plasma thrombin generation is enhanced during nephrosis, suggesting that thrombin may contribute to nephrotic progression. Moreover, nonspecific thrombin inhibition has been shown to decrease proteinuria in nephrotic animal models. We thus hypothesized that thrombin contributes to podocyte injury in a protease-activated receptor-specific manner during nephrosis. Here, we show that specific inhibition of thrombin with hirudin reduced proteinuria in two rat nephrosis models, and thrombin colocalized with a podocyte-specific marker in rat glomeruli. Furthermore, flow cytometry immunophenotyping revealed that rat podocytes express the protease-activated receptor family of coagulation receptors High-concentration thrombin directly injured conditionally immortalized human and rat podocytes. Using receptor-blocking antibodies and activation peptides, we determined that thrombin-mediated injury depended upon interactions between protease-activated receptor 3 and protease-activated receptor 4 in human podocytes, and between protease-activated receptor 1 and protease-activated receptor 4 in rat podocytes. Proximity ligation and coimmunoprecipitation assays confirmed thrombin-dependent interactions between human protease-activated receptor 3 and protease-activated receptor 4, and between rat protease-activated receptor 1 and protease-activated receptor 4 in cultured podocytes. Collectively, these data implicate thrombinuria as a contributor to podocyte injury during nephrosis, and suggest that thrombin and/or podocyte-expressed thrombin receptors may be novel therapeutic targets for nephrotic syndrome.
[Mh] Termos MeSH primário: Glomérulos Renais/metabolismo
Nefrose/metabolismo
Podócitos/patologia
Receptor PAR-1/metabolismo
Receptores de Trombina/metabolismo
Trombina/metabolismo
[Mh] Termos MeSH secundário: Animais
Antitrombinas/farmacologia
Sobrevivência Celular
Células Cultivadas
Modelos Animais de Doenças
Expressão Gênica
Hirudinas/farmacologia
Seres Humanos
Imunofenotipagem
Nefrose/complicações
Nefrose/patologia
Nefrose/urina
Podócitos/metabolismo
Proteinúria/etiologia
Ratos
Receptor PAR-1/genética
Receptores de Trombina/genética
Transdução de Sinais
Trombina/antagonistas & inibidores
Trombina/farmacologia
Trombina/urina
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antithrombins); 0 (Hirudins); 0 (Receptor, PAR-1); 0 (Receptors, Thrombin); 0 (protease-activated receptor 3); 0 (protease-activated receptor 4); EC 3.4.21.5 (Thrombin)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171003
[Lr] Data última revisão:
171003
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170421
[St] Status:MEDLINE
[do] DOI:10.1681/ASN.2016070789


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[PMID]:28303854
[Au] Autor:Wang L; Lin QF; Wang HY; Guan J; Lan L; Xie LY; Yu L; Yang J; Zhao C; Liang JL; Zhou HL; Yang HM; Xiong WP; Zhang QJ; Wang DY; Wang QJ
[Ad] Endereço:Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853; Department of Clinical Medicine, School of Medicine, Nankai University, Tianjin 300071, China.
[Ti] Título:Clinical Auditory Phenotypes Associated with Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome.
[So] Source:Chin Med J (Engl);130(6):703-709, 2017 Mar 20.
[Is] ISSN:0366-6999
[Cp] País de publicação:China
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3) gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative gene mutation for a three-generation Chinese family with HDR syndrome and analyzing auditory phenotypes in all familial HDR syndrome cases. METHODS: Three affected family members underwent otologic examinations, biochemistry tests, and other clinical evaluations. Targeted genes capture combining next-generation sequencing was performed within the family. Sanger sequencing was used to confirm the causative mutation. The auditory phenotypes of all reported familial HDR syndrome cases analyzed were provided. RESULTS: In Chinese family 7121, a heterozygous nonsense mutation c.826C>T (p.R276*) was identified in GATA3. All the three affected members suffered from sensorineural deafness and hypocalcemia; however, renal dysplasia only appeared in the youngest patient. Furthermore, an overview of thirty HDR syndrome families with corresponding GATA3 mutations revealed that hearing impairment occurred earlier in the younger generation in at least nine familial cases (30%) and two thirds of them were found to carry premature stop mutations. CONCLUSIONS: This study highlights the phenotypic heterogeneity of HDR and points to a possible genetic anticipation in patients with HDR, which needs to be further investigated.
[Mh] Termos MeSH primário: Fator de Transcrição GATA3/genética
Perda Auditiva Neurossensorial/genética
Hipoparatireoidismo/genética
Nefrose/genética
[Mh] Termos MeSH secundário: Criança
Feminino
Genótipo
Perda Auditiva/genética
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Mutação/genética
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GATA3 Transcription Factor); 0 (GATA3 protein, human)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170515
[Lr] Data última revisão:
170515
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170318
[St] Status:MEDLINE
[do] DOI:10.4103/0366-6999.201600


  8 / 1697 MEDLINE  
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[PMID]:28112392
[Au] Autor:Moriyama T; Sasaki K; Karasawa K; Uchida K; Nitta K
[Ad] Endereço:Department of Medicine, Kidney Center, Tokyo Women's Medical University, Tokyo, Japan.
[Ti] Título:Intracellular transcytosis of albumin in glomerular endothelial cells after endocytosis through caveolae.
[So] Source:J Cell Physiol;232(12):3565-3573, 2017 Dec.
[Is] ISSN:1097-4652
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We previously described albumin endocytosis through caveolae in human renal glomerular endothelial cells (HRGECs). This suggested a new albumin transcytosis pathway, in addition to the fenestral pathway. As a next step, we investigated albumin transcytosis in HRGECs after caveolar endocytosis. HRGECs were incubated with Alexa Fluor 488-labeled bovine serum albumin from 0 to 360 min. Next, markers for endosomes, endoplasmic reticulum (ER), golgi apparatus (GA), lysosomes, and proteasomes and Fc receptors, microtubules, and actin were monitored by immunofluorescence. Labeled albumin co-localization with endosomes was gradually and significantly increased and it was significantly higher than with the other markers at any timepoint. Albumin, placed on inside of the Transwell membrane, diffused through HRGEC monolayers during a 360 min incubation period. This transportation of albumin through HRGECs was inhibited by methyl beta cyclodextrin (MBCD), a caveolae disrupting agent. MBCD also decreased albuminuria, causing decreased caveolin-1 (Cav-1) expression on glomerular capillaries, in puromycin aminonucleoside induced nephrotic mice. Albumin transcytosis depends on early endosomes, but not on other organelles, Fc receptors, or cytoskeletal components. Caveolae disruption prevented albumin transportation through HRGECs and decreased albuminuria in nephrotic mice. This newly described caveolae-dependent albumin pathway through glomerular endothelial cells is a potential pathogenetic mechanism for albuminuria, independent of the fenestrae.
[Mh] Termos MeSH primário: Albuminúria/metabolismo
Cavéolas/metabolismo
Endocitose
Endossomos/metabolismo
Células Endoteliais/metabolismo
Glomérulos Renais/irrigação sanguínea
Soroalbumina Bovina/metabolismo
Transcitose
[Mh] Termos MeSH secundário: Albuminúria/induzido quimicamente
Albuminúria/prevenção & controle
Animais
Cavéolas/efeitos dos fármacos
Caveolina 1/metabolismo
Células Cultivadas
Modelos Animais de Doenças
Endocitose/efeitos dos fármacos
Endossomos/efeitos dos fármacos
Células Endoteliais/efeitos dos fármacos
Seres Humanos
Masculino
Camundongos Endogâmicos C57BL
Nefrose/induzido quimicamente
Nefrose/metabolismo
Puromicina Aminonucleosídeo
Fatores de Tempo
Transcitose/efeitos dos fármacos
beta-Ciclodextrinas/farmacologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cav1 protein, mouse); 0 (Caveolin 1); 0 (beta-Cyclodextrins); 0 (methyl-beta-cyclodextrin); 27432CM55Q (Serum Albumin, Bovine); 58-60-6 (Puromycin Aminonucleoside)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170124
[St] Status:MEDLINE
[do] DOI:10.1002/jcp.25817


  9 / 1697 MEDLINE  
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[PMID]:28003574
[Au] Autor:Komiyama K; Ashikaga T; Inagaki D; Miyabe T; Arai M; Yoshida K; Miyazawa S; Nakada A; Kawamura I; Masuda S; Nagamine S; Hojo R; Aoyama Y; Tsuchiyama T; Fukamizu S; Shibui T; Sakurada H
[Ad] Endereço:Department of Cardiology, Tokyo Metropolitan Hiroo Hospital.
[Ti] Título:Sodium Bicarbonate-Ascorbic Acid Combination for Prevention of Contrast-Induced Nephropathy in Chronic Kidney Disease Patients Undergoing Catheterization.
[So] Source:Circ J;81(2):235-240, 2017 Jan 25.
[Is] ISSN:1347-4820
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Sodium bicarbonate and ascorbic acid have been proposed to prevent contrast-induced nephropathy (CIN). The present study evaluated the effect of their combined use on CIN incidence.Methods and Results:We prospectively enrolled 429 patients with chronic kidney disease (CKD: baseline estimated glomerular filtration rate <60 mL/min/1.73 m ) prior to elective coronary catheterization. CIN was defined as absolute (≥0.5 mg/dL) or relative (≥25%) increase in serum creatinine within 72 h. In the saline hydration (n=218) and combined sodium bicarbonate+ascorbic acid (n=211) groups, a total of 1,500-2,500 mL 0.9% saline was given before and after the procedure. In addition, the combination group received 20 mEq sodium bicarbonate and 3 g ascorbic acid i.v. before the procedure, followed by 2 g ascorbic acid after the procedure and a further 2 g after 12 h. There were no significant differences between the basic characteristics and contrast volume in the 2 groups. CIN occurred in 19 patients (8.7%) in the saline group, and in 6 patients (2.8%) in the combined treatment group (P=0.008). CONCLUSIONS: Combined sodium bicarbonate and ascorbic acid could prevent CIN following catheterization in CKD patients.
[Mh] Termos MeSH primário: Ácido Ascórbico/uso terapêutico
Meios de Contraste/efeitos adversos
Nefrose/prevenção & controle
Insuficiência Renal Crônica/complicações
Bicarbonato de Sódio/uso terapêutico
[Mh] Termos MeSH secundário: Idoso
Idoso de 80 Anos ou mais
Cateterismo Cardíaco
Creatinina/sangue
Quimioterapia Combinada
Feminino
Seres Humanos
Masculino
Meia-Idade
Nefrose/induzido quimicamente
Insuficiência Renal Crônica/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RANDOMIZED CONTROLLED TRIAL
[Nm] Nome de substância:
0 (Contrast Media); 8MDF5V39QO (Sodium Bicarbonate); AYI8EX34EU (Creatinine); PQ6CK8PD0R (Ascorbic Acid)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161223
[St] Status:MEDLINE
[do] DOI:10.1253/circj.CJ-16-0921


  10 / 1697 MEDLINE  
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[PMID]:27787883
[Au] Autor:Zhou C; Vink R; Byard RW
[Ad] Endereço:The University of Adelaide Medical School, Frome Road, Adelaide, SA, 5005, Australia.
[Ti] Título:Hyperosmolarity Induces Armanni-Ebstein-like Renal Tubular Epithelial Swelling and Cytoplasmic Vacuolization.
[So] Source:J Forensic Sci;62(1):229-232, 2017 01.
[Is] ISSN:1556-4029
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Armanni-Ebstein lesions have been considered pathognomonic for diabetes mellitus and appear as markedly swollen renal tubular epithelial cells with cytoplasmic clearing and glycogen accumulation. However, the extent to which hyperosmolarity contributes to the Armanni-Ebstein phenotype is unclear. Ten sheep were injected intravenously with 20% mannitol at 11 mOsm/kg, and subsequent histological evaluation of the kidneys showed variable degrees of osmotic nephrosis and cytoplasmic clearing of renal tubular epithelial cells similar to that seen with Armanni-Ebstein lesions. However, although morphological changes similar to Armanni-Ebstein lesions could be produced, no intracytoplasmic glycogen was demonstrated with periodic Acid-Schiff (PAS) stain. This suggests that while hyperosmolarity may contribute to the development of an Armanni-Ebstein phenotype, glycogen accumulation may result from the more complex metabolic effects of glucose on renal tubular epithelial cells. Thus, when Armanni/Ebstein-like vacuolizations are seen at autopsy, a confirmatory PAS stain is recommended because of the potential effect of hyperosmolar states.
[Mh] Termos MeSH primário: Citoplasma/patologia
Células Epiteliais/patologia
Túbulos Renais/patologia
Concentração Osmolar
Vacúolos/patologia
[Mh] Termos MeSH secundário: Animais
Diuréticos Osmóticos/administração & dosagem
Patologia Legal
Manitol/administração & dosagem
Modelos Animais
Nefrose/patologia
Ovinos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Diuretics, Osmotic); 3OWL53L36A (Mannitol)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171011
[Lr] Data última revisão:
171011
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161028
[St] Status:MEDLINE
[do] DOI:10.1111/1556-4029.13235



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