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  1 / 4797 MEDLINE  
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[PMID]:29390525
[Au] Autor:Zhong J; Cao F; Guan X; Chen J; Ding Z; Zhang M
[Ad] Endereço:Department of Radiology, the Second Affiliated Hospital, Zhejiang University School of Medicine.
[Ti] Título:Renal cyst masses (Bosniak category II-III) may be over evaluated by the Bosniak criteria based on MR findings.
[So] Source:Medicine (Baltimore);96(51):e9361, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A classification system of renal cysts developed by Bosniak is based on computed tomography (CT) findings and has been applied to deal with the complex cystic renal masses. Magnetic resonance (MR) has excellent soft-tissue resolution, it has been used to further evaluate some complex renal lesions, especially those suspected of containing soft tissue components and hyperattenuating cystic lesions seen on CT. Compared with CT, MR images may find additional information, which may lead to inconsistent classification. However, at present, there is no consensus on the treatment of these inconsistent lesions. This study aimed to investigate the value of MR in the evaluation of renal cystic masses by using the Bosniak classification system and improve understanding of the MR features of renal cyst masses.The present study retrospectively analyzed 35 renal cyst masses in 34 patients (10 men and 24 women with age from 20 to 65 years old, with an average of 49 ±â€Š12.08), who underwent both MR and computed tomography (CT) examinations within 6 months (range from 1 to 135 days with an average of 11 ±â€Š24.16 days). Twenty-four lesions (9 category III and 15 category IV on CT) received surgical treatment, 4 category IIF lesions on CT were upgraded to category III on MR, which were finally accepted operative resection. The remaining 7 lesions (category II-IIF on both CT and MR) were followed up for at least 3 years. For each lesion, size of both cyst and solid component, presence of calcification, number of septa, thickness of wall and septa, and appearance of enhancement were analyzed. Each lesion was categorized by using Bosniak criteria on CT and MR, respectively. The MR findings were compared with CT and pathology or follow-up results.On MR, categories of the lesions were as follows: category IIF (n = 7), III (n = 12), IV (n = 16). On CT, categories of the lesions were as follows: II (n = 3), IIF (n = 8), III (n = 9), and IV (n = 15). Findings on MR and CT images were inconsistent in 8 (23%) lesions. Among them, 3 category II lesions on CT were classified as category IIF on MR images, 4 category IIF lesions on CT were upgraded to category III on MR, and 1 category III lesions to category IV. In these lesions, MR detected more increased wall/septa thickness (n = 8) and septa number (n = 3) than CT, resulting in an upgrade in classification. Based on the pathological results, 5 of category III (5/9, 56%) and all category IV (15/15, 100%) lesions on CT images were malignant. On MR, 4 of category III (4/12, 33%) and all category IV (16/16, 100%) lesions were malignant.The renal cyst masses in some cases, especially category II to III lesions, may be over evaluated by the Bosniak criteria based on MR findings. It is necessary to combine MR features with CT findings in evaluation and management of these cases with renal cystic masses.
[Mh] Termos MeSH primário: Processamento de Imagem Assistida por Computador
Doenças Renais Císticas/classificação
Doenças Renais Císticas/diagnóstico por imagem
Imagem por Ressonância Magnética/métodos
Tomografia Computadorizada por Raios X/métodos
[Mh] Termos MeSH secundário: Adulto
Fatores Etários
Idoso
Estudos de Coortes
Bases de Dados Factuais
Feminino
Seres Humanos
Doenças Renais Císticas/cirurgia
Masculino
Meia-Idade
Prognóstico
Estudos Retrospectivos
Índice de Gravidade de Doença
Fatores Sexuais
Resultado do Tratamento
Adulto Jovem
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180219
[Lr] Data última revisão:
180219
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009361


  2 / 4797 MEDLINE  
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[PMID]:29390414
[Au] Autor:Zhu L; Xie L
[Ad] Endereço:Ultrasound Department, Sheng Jing Hospital of China Medical University, Shenyang, Liaoning Province, People's Republic of China.
[Ti] Título:Prenatal diagnosis of Joubert syndrome: A case report and literature review.
[So] Source:Medicine (Baltimore);96(51):e8626, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and related disorders (JSRD). Molecular genetics research contributes to disease prediction and genetic counseling. Prenatal diagnosis is rare. Magnetic resonance imaging (MRI) is usually the first-choice diagnostic modality with typical brain images characterized by the molar tooth sign. We describe a case of JS prenatally and Dandy-Walker malformation for the differential diagnosis based on ultrasonograms. We also review the etiology, imaging features, clinical symptoms, and diagnosis of JSRD. CASE PRESENTATION: A 22-year-old woman was pregnant at 27 1/7 weeks' gestation with fetal cerebellar vermis hypoplasia. Fetal ultrasonography and MRI confirmed a diagnosis of JS at our center. The couple finally opted to terminate the fetus, which had a normal appearance and growth parameters. The couple also had an AHI1 gene mutation on chromosome 6. CONCLUSIONS: Currently, a diagnosis of JS is commonly made after birth. Fewer cases of prenatal diagnosis by ultrasonography have been made, and they are more liable to be misdirected because of some nonspecial features that also manifest in Dandy-Walker malformation, cranio-cerebello-cardiac syndrome, and so on.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/diagnóstico
Proteínas Adaptadoras de Transdução de Sinal/genética
Cerebelo/anormalidades
Síndrome de Dandy-Walker/diagnóstico
Anormalidades do Olho/diagnóstico
Doenças Renais Císticas/diagnóstico
Retina/anormalidades
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/diagnóstico por imagem
Cerebelo/diagnóstico por imagem
Síndrome de Dandy-Walker/complicações
Síndrome de Dandy-Walker/diagnóstico por imagem
Diagnóstico Diferencial
Anormalidades do Olho/complicações
Anormalidades do Olho/diagnóstico por imagem
Feminino
Aconselhamento Genético
Idade Gestacional
Seres Humanos
Doenças Renais Císticas/complicações
Doenças Renais Císticas/diagnóstico por imagem
Mutação
Gravidez
Retina/diagnóstico por imagem
Ultrassonografia Pré-Natal
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (AHI1 protein, human); 0 (Adaptor Proteins, Signal Transducing)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180213
[Lr] Data última revisão:
180213
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008626


  3 / 4797 MEDLINE  
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[PMID]:28748527
[Au] Autor:Kim J; Field A; Schultz KAP; Hill DA; Stewart DR
[Ad] Endereço:Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.
[Ti] Título:The prevalence of DICER1 pathogenic variation in population databases.
[So] Source:Int J Cancer;141(10):2030-2036, 2017 Nov 15.
[Is] ISSN:1097-0215
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The DICER1 syndrome is associated with a variety of rare benign and malignant tumors, including pleuropulmonary blastoma (PPB), cystic nephroma (CN) and Sertoli-Leydig cell tumor (SLCT). The prevalence and penetrance of pathogenic DICER1 variation in the general population is unknown. We examined three publicly-available germline whole exome sequence datasets: Exome Aggregation Consortium (ExAC), 1,000 Genomes (1,000 G) and the Exome Sequencing Project (ESP). To avoid over-estimation of pathogenic DICER1 variation from cancer-associated exomes, we excluded The Cancer Genome Atlas (TCGA) variants from ExAC. All datasets were annotated with snpEff and ANNOVAR and variants were classified into four categories: likely benign (LB), unknown significance (VUS), likely pathogenic (LP), or pathogenic (P). The prevalence of DICER1 P/LP variants was 1:870 to 1:2,529 in ExAC-nonTCGA (53,105 exomes) estimated by metaSVM and REVEL/CADD, respectively. A more stringent prevalence calculation considering only loss-of-function and previously-published pathogenic variants detected in ExAC-nonTCGA, yielded a prevalence of 1:10,600. Despite the rarity of most DICER1 syndrome tumors, pathogenic DICER1 variation is more common than expected. If confirmed, these findings may inform future sequencing-based newborn screening programs for PPB, CN and SLCT, in which early detection improves prognosis.
[Mh] Termos MeSH primário: Biomarcadores/metabolismo
RNA Helicases DEAD-box/genética
Doenças Renais Císticas/genética
Neoplasias Ovarianas/genética
Blastoma Pulmonar/genética
Ribonuclease III/genética
Tumor de Células de Sertoli-Leydig/genética
[Mh] Termos MeSH secundário: Detecção Precoce de Câncer
Feminino
Predisposição Genética para Doença
Mutação em Linhagem Germinativa
Seres Humanos
Doenças Renais Císticas/epidemiologia
Neoplasias Ovarianas/epidemiologia
Prevalência
Prognóstico
Blastoma Pulmonar/epidemiologia
Tumor de Células de Sertoli-Leydig/epidemiologia
Estados Unidos/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); EC 3.1.26.3 (DICER1 protein, human); EC 3.1.26.3 (Ribonuclease III); EC 3.6.4.13 (DEAD-box RNA Helicases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:180104
[Lr] Data última revisão:
180104
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170728
[St] Status:MEDLINE
[do] DOI:10.1002/ijc.30907


  4 / 4797 MEDLINE  
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[PMID]:29019896
[Au] Autor:Lai S; Xu X; Diao T; Jiao B; Jiang Z; Zhang G
[Ad] Endereço:aPeking University China-Japan Friendship School of Clinical Medicine bDepartment of Urology, China-Japan Friendship Hospital, Beijing cDepartment of Urology, Henan Provincial People's Hospital, Zhengzhou, Henan Province, China.
[Ti] Título:The efficacy of retroperitoneal laparoscopic deroofing of simple renal cyst with perirenal fat tissue wadding technique: A retrospective study.
[So] Source:Medicine (Baltimore);96(41):e8259, 2017 Oct.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Treatment options for simple renal cyst (SRC) include open surgery, laparoscopy with decortication, or percutaneous aspiration with or without sclerotherapy. Though laparoscopic unroofing achieves better results than percutaneous sclerotherapy, the reported recurrence rate is still up to 19%. Thus, it is necessary to find methods to reduce the recurrence rate.To investigate whether the perirenal pedicled fat tissue wadding technique during retroperitoneal laproscopic deroofing (RLD) of SRC affects the incidence of recurrence.A retrospective analysis was carried out on clinical data of 254 patients with SRC treated by RLD in our hospital from 2008 to 2016. Among these patients,119 had a simple retroperitoneal deroofing (SRD) and 135 received a retroperitoneoscopic deroofing with wadding of the cyst using perirenal fat tissue (RDCW). The recurrence rate and variables, as well as perioperative complications, were compared. To further explore the potential variables influencing cyst recurrence rate, univariate and multivariate regression analyses were applied.A total of 251 patients were included in the analysis. The operation was successfully completed laparoscopically in all cases with no conversion to open surgery. No mortality or significant complication occurred in both groups. After a median follow-up of 38.67 months, we noted 41 recurrences. According to the univariate and multivariate regression analyses, patients managed with the wadding technique had superior recurrence-free survival (RFS), compared with patients in SRD group (log-rank P = .03 and P = .04, respectively). Moreover, patients with single renal cyst had a lower recurrence rate, compared with patients with multiple renal cysts (log-rank P < .01). Regarding the operation time, blood loss, and hospital stay, no statistically significant difference was found between 2 groups (P values .13, .30, and .75, respectively). However, less postoperative drainage and shorter postoperative interval until tube removal (P = .04) were observed in RDCW group.The perirenal pedicled fat tissue wadding technique can decrease the cyst recurrence rate and RCDW represents an effective and safe treatment option in the management of renal cysts.
[Mh] Termos MeSH primário: Gordura Intra-Abdominal/cirurgia
Doenças Renais Císticas/cirurgia
Laparoscopia
Complicações Pós-Operatórias/diagnóstico
Prevenção Secundária/métodos
Procedimentos Cirúrgicos Urológicos
[Mh] Termos MeSH secundário: Perda Sanguínea Cirúrgica/estatística & dados numéricos
Feminino
Seres Humanos
Doenças Renais Císticas/diagnóstico
Laparoscopia/efeitos adversos
Laparoscopia/métodos
Masculino
Meia-Idade
Duração da Cirurgia
Avaliação de Processos e Resultados (Cuidados de Saúde)
Estudos Retrospectivos
Retalhos Cirúrgicos
Procedimentos Cirúrgicos Urológicos/efeitos adversos
Procedimentos Cirúrgicos Urológicos/métodos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171122
[Lr] Data última revisão:
171122
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171012
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008259


  5 / 4797 MEDLINE  
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[PMID]:28965847
[Au] Autor:De Mori R; Romani M; D'Arrigo S; Zaki MS; Lorefice E; Tardivo S; Biagini T; Stanley V; Musaev D; Fluss J; Micalizzi A; Nuovo S; Illi B; Chiapparini L; Di Marcotullio L; Issa MY; Anello D; Casella A; Ginevrino M; Leggins AS; Roosing S; Alfonsi R; Rosati J; Schot R; Mancini GMS; Bertini E; Dobyns WB; Mazza T; Gleeson JG; Valente EM
[Ad] Endereço:Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy; Department of Biological and Environmental Sciences, University of Messina, Messina 98125, Italy.
[Ti] Título:Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
[So] Source:Am J Hum Genet;101(4):552-563, 2017 Oct 05.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is mediated by the primary cilium, and genetic defects affecting either SHH pathway members or ciliary proteins cause a spectrum of developmental disorders. SUFU is the main negative regulator of the SHH pathway and is essential during development. Indeed, Sufu knock-out is lethal in mice, and recessive pathogenic variants of this gene have never been reported in humans. Through whole-exome sequencing in subjects with Joubert syndrome, we identified four children from two unrelated families carrying homozygous missense variants in SUFU. The children presented congenital ataxia and cerebellar vermis hypoplasia with elongated superior cerebellar peduncles (mild "molar tooth sign"), typical cranio-facial dysmorphisms (hypertelorism, depressed nasal bridge, frontal bossing), and postaxial polydactyly. Two siblings also showed polymicrogyria. Molecular dynamics simulation predicted random movements of the mutated residues, with loss of the native enveloping movement of the binding site around its ligand GLI3. Functional studies on cellular models and fibroblasts showed that both variants significantly reduced SUFU stability and its capacity to bind GLI3 and promote its cleavage into the repressor form GLI3R. In turn, this impaired SUFU-mediated repression of the SHH pathway, as shown by altered expression levels of several target genes. We demonstrate that germline hypomorphic variants of SUFU cause deregulation of SHH signaling, resulting in recessive developmental defects of the CNS and limbs which share features with both SHH-related disorders and ciliopathies.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Doenças do Desenvolvimento Ósseo/genética
Cerebelo/anormalidades
Anormalidades Craniofaciais/genética
Anormalidades do Olho/genética
Genes Recessivos
Proteínas Hedgehog/metabolismo
Doenças Renais Císticas/genética
Mutação de Sentido Incorreto
Proteínas Repressoras/genética
Retina/anormalidades
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/patologia
Doenças do Desenvolvimento Ósseo/patologia
Células Cultivadas
Cerebelo/patologia
Criança
Estudos de Coortes
Anormalidades Craniofaciais/patologia
Anormalidades do Olho/patologia
Feminino
Fibroblastos/metabolismo
Fibroblastos/patologia
Regulação da Expressão Gênica no Desenvolvimento
Seres Humanos
Doenças Renais Císticas/patologia
Fatores de Transcrição Kruppel-Like/metabolismo
Masculino
Proteínas do Tecido Nervoso/metabolismo
Proteínas Repressoras/química
Proteínas Repressoras/metabolismo
Retina/patologia
Análise de Sequência de DNA
Transdução de Sinais
Pele/metabolismo
Pele/patologia
Proteína Gli3 com Dedos de Zinco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GLI3 protein, human); 0 (Hedgehog Proteins); 0 (Kruppel-Like Transcription Factors); 0 (Nerve Tissue Proteins); 0 (Repressor Proteins); 0 (SHH protein, human); 0 (SUFU protein, human); 0 (Zinc Finger Protein Gli3)
[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:171003
[St] Status:MEDLINE


  6 / 4797 MEDLINE  
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[PMID]:28893945
[Au] Autor:Casoni F; Croci L; Bosone C; D'Ambrosio R; Badaloni A; Gaudesi D; Barili V; Sarna JR; Tessarollo L; Cremona O; Hawkes R; Warming S; Consalez GG
[Ad] Endereço:Division of Neuroscience, San Raffaele Scientific Institute, Milan 20132, Italy.
[Ti] Título: regulates cell cycle progression, the mode of cell division and the DNA-damage response in Purkinje neuron progenitors.
[So] Source:Development;144(20):3686-3697, 2017 10 15.
[Is] ISSN:1477-9129
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The gene encodes a 30-zinc-finger transcription factor involved in key developmental pathways. Although null mutants develop cerebellar malformations, the underlying mechanism remains unknown. mutations are associated with Joubert Syndrome, a ciliopathy causing cerebellar vermis hypoplasia and ataxia. participates in the DNA-damage response (DDR), raising questions regarding its role as a regulator of neural progenitor cell cycle progression in cerebellar development. To characterize the function of ZFP423 in neurogenesis, we analyzed allelic murine mutants in which distinct functional domains are deleted. One deletion impairs mitotic spindle orientation, leading to premature cell cycle exit and Purkinje cell (PC) progenitor pool deletion. The other deletion impairs PC differentiation. In both mutants, cell cycle progression is remarkably delayed and DDR markers are upregulated in cerebellar ventricular zone progenitors. Our evidence sheds light on the domain-specific roles played by ZFP423 in different aspects of PC progenitor development, and at the same time strengthens the emerging notion that an impaired DDR may be a key factor in the pathogenesis of JS and other ciliopathies.
[Mh] Termos MeSH primário: Ciclo Celular
Proteínas de Ligação a DNA/fisiologia
Células-Tronco Neurais/citologia
Neurônios/citologia
Células de Purkinje/citologia
Fatores de Transcrição/fisiologia
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/genética
Alelos
Animais
Diferenciação Celular
Divisão Celular
Proliferação Celular
Cerebelo/anormalidades
Dano ao DNA
Anormalidades do Olho/genética
Deleção de Genes
Doenças Renais Císticas/genética
Camundongos
Mutação
Domínios Proteicos
Retina/anormalidades
Fuso Acromático/metabolismo
Dedos de Zinco
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (DNA-Binding Proteins); 0 (Ebfaz protein, mouse); 0 (Transcription Factors)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171126
[Lr] Data última revisão:
171126
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170913
[St] Status:MEDLINE
[do] DOI:10.1242/dev.155077


  7 / 4797 MEDLINE  
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[PMID]:28860115
[Au] Autor:Gao L; Yang Z; Hiremath C; Zimmerman SE; Long B; Brakeman PR; Mostov KE; Bryant DM; Luby-Phelps K; Marciano DK
[Ad] Endereço:Department of Medicine, Division of Nephrology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.
[Ti] Título:Afadin orients cell division to position the tubule lumen in developing renal tubules.
[So] Source:Development;144(19):3511-3520, 2017 10 01.
[Is] ISSN:1477-9129
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:In many types of tubules, continuity of the lumen is paramount to tubular function, yet how tubules generate lumen continuity is not known. We recently found that the F-actin-binding protein afadin is required for lumen continuity in developing renal tubules, though its mechanism of action remains unknown. Here, we demonstrate that afadin is required for lumen continuity by orienting the mitotic spindle during cell division. Using an 3D cyst model, we find that afadin localizes to the cell cortex adjacent to the spindle poles and orients the mitotic spindle. In tubules, cell division may be oriented relative to two axes: longitudinal and apical-basal. Unexpectedly, examination of early-stage developing nephron tubules reveals that cell division is not oriented in the longitudinal (or planar-polarized) axis. However, cell division is oriented perpendicular to the apical-basal axis. Absence of afadin leads to misorientation of apical-basal cell division in nephron tubules. Together, these results support a model whereby afadin determines lumen placement by directing apical-basal spindle orientation, resulting in a continuous lumen and normal tubule morphogenesis.
[Mh] Termos MeSH primário: Divisão Celular
Túbulos Renais/embriologia
Túbulos Renais/metabolismo
Proteínas dos Microfilamentos/metabolismo
[Mh] Termos MeSH secundário: Animais
Células Cultivadas
Cães
Células Epiteliais/metabolismo
Células Epiteliais/patologia
Feminino
Doenças Renais Císticas/patologia
Túbulos Renais/patologia
Células Madin Darby de Rim Canino
Masculino
Camundongos
Morfogênese
Néfrons/metabolismo
Néfrons/patologia
Fuso Acromático/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Microfilament Proteins); 0 (afadin)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171126
[Lr] Data última revisão:
171126
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170902
[St] Status:MEDLINE
[do] DOI:10.1242/dev.148908


  8 / 4797 MEDLINE  
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[PMID]:28846093
[Au] Autor:Shi X; Garcia G; Van De Weghe JC; McGorty R; Pazour GJ; Doherty D; Huang B; Reiter JF
[Ad] Endereço:Department of Pharmaceutical Chemistry, University of California, San Francisco, San Francisco, California 94143, USA.
[Ti] Título:Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome.
[So] Source:Nat Cell Biol;19(10):1178-1188, 2017 Oct.
[Is] ISSN:1476-4679
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Ciliopathies, including nephronophthisis (NPHP), Meckel syndrome (MKS) and Joubert syndrome (JBTS), can be caused by mutations affecting components of the transition zone, a domain near the base of the cilium that controls the protein composition of its membrane. We defined the three-dimensional arrangement of key proteins in the transition zone using two-colour stochastic optical reconstruction microscopy (STORM). NPHP and MKS complex components form nested rings comprised of nine-fold doublets. JBTS-associated mutations in RPGRIP1L or TCTN2 displace certain transition-zone proteins. Diverse ciliary proteins accumulate at the transition zone in wild-type cells, suggesting that the transition zone is a waypoint for proteins entering and exiting the cilium. JBTS-associated mutations in RPGRIP1L disrupt SMO accumulation at the transition zone and the ciliary localization of SMO. We propose that the disruption of transition-zone architecture in JBTS leads to a failure of SMO to accumulate at the transition zone and cilium, disrupting developmental signalling in JBTS.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/patologia
Cerebelo/anormalidades
Cílios/patologia
Ciliopatias/patologia
Anormalidades do Olho/patologia
Doenças Renais Císticas/patologia
Microscopia de Fluorescência/métodos
Retina/anormalidades
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/genética
Anormalidades Múltiplas/metabolismo
Proteínas Adaptadoras de Transdução de Sinal/genética
Proteínas Adaptadoras de Transdução de Sinal/metabolismo
Adolescente
Adulto
Animais
Proteínas de Transporte/genética
Proteínas de Transporte/metabolismo
Linhagem Celular
Cerebelo/metabolismo
Cerebelo/patologia
Criança
Cílios/metabolismo
Ciliopatias/genética
Ciliopatias/metabolismo
Anormalidades do Olho/genética
Anormalidades do Olho/metabolismo
Feminino
Predisposição Genética para Doença
Seres Humanos
Processamento de Imagem Assistida por Computador
Doenças Renais Císticas/genética
Doenças Renais Císticas/metabolismo
Masculino
Proteínas de Membrana/genética
Proteínas de Membrana/metabolismo
Camundongos Endogâmicos C57BL
Mutação
Receptor Patched-1/genética
Receptor Patched-1/metabolismo
Fenótipo
Retina/metabolismo
Retina/patologia
Transdução de Sinais
Receptor Smoothened/genética
Receptor Smoothened/metabolismo
Processos Estocásticos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Adaptor Proteins, Signal Transducing); 0 (Carrier Proteins); 0 (Ftm protein, mouse); 0 (Membrane Proteins); 0 (NPHP1 protein, human); 0 (Nphp1 protein, mouse); 0 (Patched-1 Receptor); 0 (Ptch1 protein, mouse); 0 (RPGRIP1L protein, human); 0 (Smo protein, mouse); 0 (Smoothened Receptor); 0 (TCTN2 protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171122
[Lr] Data última revisão:
171122
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170829
[St] Status:MEDLINE
[do] DOI:10.1038/ncb3599


  9 / 4797 MEDLINE  
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[PMID]:28726664
[Au] Autor:Tkemaladze T; Melikishvili G; Kherkheulidze V; Melikishvili A; Davitaia T
[Ad] Endereço:1MediClubGeorgia Medical Center, Department of Pediatrics; 2Tbilisi State Medical University, Department of Molecular and Medical Genetics; 3St Christopher's Hospital for Children, Philadelphia, PA, U.S.A.; 4M. Iashvili Children Central Hospital, Uronephrology Department, Tbilisi, Georgia.
[Ti] Título:EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT).
[So] Source:Georgian Med News;(267):100-103, 2017 Jun.
[Is] ISSN:1512-0112
[Cp] País de publicação:Georgia (Republic)
[La] Idioma:eng
[Ab] Resumo:Human ciliopathies are a class of multi-organ genetic disorders caused by defects of proteins expressed at the primary cilium, an organelle present on the cell surface of almost all cell types. Thus far, dozens of causative genes for ciliopathies have been identified and many of them are known to cause allelic disease. Of particular interest is the TMEM67 gene, encoding the transmembrane protein meckelin. The involvement of the mutant TMEM67 gene is known to be associated with a broad range of clinical presentations, namely Joubert syndrome 6 (JBTS6), nephronophthisis 11 (NPHP11), Bardet-Biedel syndrome (BBS), COACH syndrome, and lethal Meckel syndrome type 3 (MKS3). Here we present a case of a 3-year-old boy with compound heterozygous missense mutations in the TMEM67 gene manifesting features of both JBTS and NPHP syndromes, with neonatal onset of end-stage renal disease (ESRD) and associated microcephaly. Such a phenotype has not been reported to date, thus highlighting the diversity of ciliopathies and expanding the phenotype of the TMEM67 gene.
[Mh] Termos MeSH primário: Ciliopatias/genética
Proteínas de Membrana/genética
[Mh] Termos MeSH secundário: Doenças Cerebelares/genética
Pré-Escolar
Seres Humanos
Nefropatias/genética
Doenças Renais Císticas/genética
Falência Renal Crônica/genética
Masculino
Microcefalia/genética
Mutação
Transtornos da Motilidade Ocular/genética
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Membrane Proteins); 0 (TMEM67 protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170919
[Lr] Data última revisão:
170919
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170721
[St] Status:MEDLINE


  10 / 4797 MEDLINE  
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Texto completo
[PMID]:28705069
[Au] Autor:Mileto A; Allen BC; Pietryga JA; Farjat AE; Zarzour JG; Bellini D; Ebner L; Morgan DE
[Ad] Endereço:1 Department of Radiology, University of Washington School of Medicine, Box 357115, 1959 NE Pacific St, Seattle, WA 98195.
[Ti] Título:Characterization of Incidental Renal Mass With Dual-Energy CT: Diagnostic Accuracy of Effective Atomic Number Maps for Discriminating Nonenhancing Cysts From Enhancing Masses.
[So] Source:AJR Am J Roentgenol;209(4):W221-W230, 2017 Oct.
[Is] ISSN:1546-3141
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: The purpose of this study was to assess the diagnostic accuracy of effective atomic number maps reconstructed from dual-energy contrast-enhanced data for discriminating between nonenhancing renal cysts and enhancing masses. MATERIALS AND METHODS: Two hundred six patients (128 men, 78 women; mean age, 64 years) underwent a CT renal mass protocol (single-energy unenhanced and dual-energy contrast-enhanced nephrographic imaging) at two different hospitals. For each set of patients, two blinded, independent observers performed measurements on effective atomic number maps from contrast-enhanced dual-energy data. Renal mass assessment on unenhanced and nephrographic images, corroborated by imaging and medical records, was the reference standard. The diagnostic accuracy of effective atomic number maps was assessed with ROC analysis. RESULTS: Significant differences in mean effective atomic numbers (Z ) were observed between nonenhancing and enhancing masses (set A, 8.19 vs 9.59 Z ; set B, 8.05 vs 9.19 Z ; sets combined, 8.13 vs 9.37 Z ) (p < 0.0001). An effective atomic number value of 8.36 Z was the optimal threshold, rendering an AUC of 0.92 (95% CI, 0.89-0.94), sensitivity of 90.8% (158/174 [95% CI, 85.5-94.7%]), specificity of 85.2% (445/522 [95% CI, 81.9-88.2%]), and overall diagnostic accuracy of 86.6% (603/696 [95% CI, 83.9-89.1%]). CONCLUSION: Nonenhancing renal cysts, including hyperattenuating cysts, can be discriminated from enhancing masses on effective atomic number maps generated from dual-energy contrast-enhanced CT data. This technique may be of clinical usefulness when a CT protocol for comprehensive assessment of renal masses is not available.
[Mh] Termos MeSH primário: Doenças Renais Císticas/diagnóstico por imagem
Neoplasias Renais/diagnóstico por imagem
Imagem Radiográfica a Partir de Emissão de Duplo Fóton
Tomografia Computadorizada por Raios X
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Diagnóstico Diferencial
Feminino
Seres Humanos
Achados Incidentais
Masculino
Meia-Idade
Reprodutibilidade dos Testes
Estudos Retrospectivos
Tomografia Computadorizada por Raios X/métodos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171006
[Lr] Data última revisão:
171006
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170715
[St] Status:MEDLINE
[do] DOI:10.2214/AJR.16.17325



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