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  1 / 920 MEDLINE  
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[PMID]:29378497
[Au] Autor:Peltonen R; Österlund P; Lempinen M; Nordin A; Stenman UH; Isoniemi H
[Ad] Endereço:1 Transplantation and Liver Surgery Clinic, Helsinki University Hospital, Helsinki, Finland.
[Ti] Título:Postoperative CEA is a better prognostic marker than CA19-9, hCGß or TATI after resection of colorectal liver metastases.
[So] Source:Tumour Biol;40(1):1010428317752944, 2018 Jan.
[Is] ISSN:1423-0380
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Liver metastases of colorectal cancer can be operated with a curative intent in selected cases. However, more than half of the patients have a recurrence. The aim of this study was to evaluate the prognostic and predictive value of carcinoembryonic antigen (CEA), carbohydrate antigen 19-9 (CA19-9), human chorionic gonadotropin ß (hCGß) and tumour-associated trypsin-inhibitor (TATI) in colorectal cancer patients before and 3 months after resection of liver metastases. Marker concentrations were determined in blood samples from 168 colorectal cancer patients, who underwent liver resection between the years 1998 and 2007 at Helsinki University Hospital, Finland. The samples were taken before and 3 months after curative resection. Increased concentrations of CEA (>5 µg/L) and hCGß (>1 pmol/L) 3 months after liver resection correlated with recurrence and impaired overall survival and increased CA19-9 (>26 kU/L) with impaired overall survival, but postoperative TATI was not prognostic. Preoperatively elevated CEA and CA19-9 correlated with impaired overall survival, but not with recurrence. Neither preoperative hCGß nor TATI was prognostic. In conclusion, CEA is a useful prognostic marker, when measured 3 months after resection of colorectal liver metastases. CA19-9 also has prognostic significance and may have additional value.
[Mh] Termos MeSH primário: Biomarcadores Tumorais/sangue
Antígeno CA-19-9/sangue
Antígeno Carcinoembrionário/sangue
Neoplasias Colorretais/patologia
Neoplasias Hepáticas/patologia
Inibidor da Tripsina Pancreática de Kazal/sangue
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Gonadotropina Coriônica Humana Subunidade beta/sangue
Neoplasias Colorretais/sangue
Feminino
Seres Humanos
Neoplasias Hepáticas/sangue
Masculino
Meia-Idade
Recidiva Local de Neoplasia/sangue
Recidiva Local de Neoplasia/patologia
Período Pós-Operatório
Prognóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (CA-19-9 Antigen); 0 (Carcinoembryonic Antigen); 0 (Chorionic Gonadotropin, beta Subunit, Human); 50936-63-5 (Trypsin Inhibitor, Kazal Pancreatic)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180202
[Lr] Data última revisão:
180202
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180131
[St] Status:MEDLINE
[do] DOI:10.1177/1010428317752944


  2 / 920 MEDLINE  
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[PMID]:28741531
[Au] Autor:Ateeq B; Bhatia V; Goel S
[Ad] Endereço:Molecular Oncology Laboratory, Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, Uttar Pradesh 208016, India. Electronic address: bushra@iitk.ac.in.
[Ti] Título:Molecular Discriminators of Racial Disparities in Prostate Cancer.
[So] Source:Trends Cancer;2(3):116-120, 2016 Mar.
[Is] ISSN:2405-8025
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Recent molecular characterization of prostate cancer (PCa) identified novel genetic aberrations and disease subtypes. The frequencies of molecular aberrations show racial disparity. Clinical strategies and targeted therapies embracing these racial differences are required. Here we discuss ethnic differences in genetic alterations and their impact on the susceptibility, progression, and treatment of prostate cancer.
[Mh] Termos MeSH primário: Neoplasias da Próstata/etnologia
Neoplasias da Próstata/genética
[Mh] Termos MeSH secundário: Grupos de Populações Continentais
Grupos Étnicos
Predisposição Genética para Doença
Seres Humanos
Masculino
Serina Endopeptidases/genética
Regulador Transcricional ERG/genética
Inibidor da Tripsina Pancreática de Kazal/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ERG protein, human); 0 (SPINK1 protein, human); 0 (Transcriptional Regulator ERG); 50936-63-5 (Trypsin Inhibitor, Kazal Pancreatic); EC 3.4.21.- (Serine Endopeptidases); EC 3.4.21.- (TMPRSS2 protein, human)
[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:170726
[St] Status:MEDLINE


  3 / 920 MEDLINE  
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[PMID]:28845526
[Au] Autor:Chang C; Zhao W; Luo Y; Xi L; Chen S; Zhao C; Wang G; Guo J; Xu C
[Ad] Endereço:State Key Laboratory Cultivation Base for Cell Differentiation Regulation and Henan Engineering Laboratory for Bioengineering and Drug Development, College of Life Science, Henan Normal University, Xinxiang, China.
[Ti] Título:Serine peptidase inhibitor Kazal type I (SPINK1) promotes BRL-3A cell proliferation via p38, ERK, and JNK pathways.
[So] Source:Cell Biochem Funct;35(6):339-348, 2017 Aug.
[Is] ISSN:1099-0844
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Serine peptidase inhibitor Kazal type I (SPINK1) has the similar spatial structure as epidermal growth factor (EGF); EGF can interact with epidermal growth factor receptor (EGFR) to promote proliferation in different cell types. However, whether SPINK1 can interact with EGFR and further regulate the proliferation of hepatocytes in liver regeneration remains largely unknown. In this study, we investigated the role of SPINK1 in a rat liver hepatocyte line of BRL-3A in vitro. The results showed the upregulation of endogenous Spink1 (gene addition) significantly increased not only the cell viability, cell numbers in S and G /M phase, but also upregulated the genes/proteins expression related to cell proliferation and anti-apoptosis in BRL-3A. In contrast, the cell number in G phase and the expression of pro-apoptosis-related genes/proteins were significantly decreased. The similar results were observed when the cells were treated with exogenous rat recombinant SPINK1. Immunoblotting suggested SPINK1 can interact with EGFR. By Ingenuity Pathway Analysis software, the SPINK1 signalling pathway was built; the predicted read outs were validated by qRT-PCR and western blot; and the results showed that p38, ERK, and JNK pathways-related genes/proteins were involved in the cell proliferation upon the treatment of endogenous Spink1 and exogenous SPINK1. Collectively, SPINK1 can associate with EGFR to promote the expression of cell proliferation-related and anti-apoptosis-related genes/proteins; inhibit the expression of pro-apoptosis-related genes/proteins via p38, ERK, and JNK pathways; and consequently promote the proliferation of BRL-3A cells. For the first time, we demonstrated that SPINK1 can associate with EGFR to promote the proliferation of BRL-3A cells via p38, ERK, and JNK pathways. This work has direct implications on the underlying mechanism of SPINK1 in regulating hepatocytes proliferation in vivo and liver regeneration after partial hepatectomy.
[Mh] Termos MeSH primário: MAP Quinases Reguladas por Sinal Extracelular/metabolismo
Peptídeos e Proteínas de Sinalização Intercelular/metabolismo
Proteínas Quinases JNK Ativadas por Mitógeno/metabolismo
Proteínas Quinases p38 Ativadas por Mitógeno/metabolismo
[Mh] Termos MeSH secundário: Animais
Pontos de Checagem do Ciclo Celular
Linhagem Celular
Proliferação Celular
Sobrevivência Celular
Células HEK293
Seres Humanos
Peptídeos e Proteínas de Sinalização Intercelular/genética
Microscopia Confocal
Ratos
Transdução de Sinais
Inibidor da Tripsina Pancreática de Kazal
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Intercellular Signaling Peptides and Proteins); 0 (Spink1 protein, rat); 50936-63-5 (Trypsin Inhibitor, Kazal Pancreatic); EC 2.7.11.24 (Extracellular Signal-Regulated MAP Kinases); EC 2.7.11.24 (JNK Mitogen-Activated Protein Kinases); EC 2.7.11.24 (p38 Mitogen-Activated Protein Kinases)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170829
[St] Status:MEDLINE
[do] DOI:10.1002/cbf.3288


  4 / 920 MEDLINE  
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[PMID]:28440306
[Au] Autor:Jalaly NY; Moran RA; Fargahi F; Khashab MA; Kamal A; Lennon AM; Walsh C; Makary MA; Whitcomb DC; Yadav D; Cebotaru L; Singh VK
[Ad] Endereço:Division of Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
[Ti] Título:An Evaluation of Factors Associated With Pathogenic PRSS1, SPINK1, CTFR, and/or CTRC Genetic Variants in Patients With Idiopathic Pancreatitis.
[So] Source:Am J Gastroenterol;112(8):1320-1329, 2017 Aug.
[Is] ISSN:1572-0241
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: We evaluated factors associated with pathogenic genetic variants in patients with idiopathic pancreatitis. METHODS: Genetic testing (PRSS1, CFTR, SPINK1, and CTRC) was performed in all eligible patients with idiopathic pancreatitis between 2010 to 2015. Patients were classified into the following groups based on a review of medical records: (1) acute recurrent idiopathic pancreatitis (ARIP) with or without underlying chronic pancreatitis; (2) idiopathic chronic pancreatitis (ICP) without a history of ARP; (3) an unexplained first episode of acute pancreatitis (AP)<35 years of age; and (4) family history of pancreatitis. Logistic regression analysis was used to determine the factors associated with pathogenic genetic variants. RESULTS: Among 197 ARIP and/or ICP patients evaluated from 2010 to 2015, 134 underwent genetic testing. A total of 88 pathogenic genetic variants were found in 64 (47.8%) patients. Pathogenic genetic variants were identified in 58, 63, and 27% of patients with ARIP, an unexplained first episode of AP <35 years of age, and ICP without ARP, respectively. ARIP (OR: 18.12; 95% CI: 2.16-151.87; P=0.008) and an unexplained first episode of AP<35 years of age (OR: 2.46; 95% CI: 1.18-5.15; P=0.017), but not ICP, were independently associated with pathogenic genetic variants in the adjusted analysis. CONCLUSIONS: Pathogenic genetic variants are most likely to be identified in patients with ARIP and an unexplained first episode of AP<35 years of age. Genetic testing in these patient populations may delineate an etiology and prevent unnecessary diagnostic testing and procedures.
[Mh] Termos MeSH primário: Proteínas de Transporte/genética
Quimotripsina/genética
Pancreatite/genética
Tripsina/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Feminino
Predisposição Genética para Doença
Variação Genética
Seres Humanos
Masculino
Meia-Idade
Mutação
Estudos Retrospectivos
Inibidor da Tripsina Pancreática de Kazal
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Carrier Proteins); 0 (SPINK1 protein, human); 50936-63-5 (Trypsin Inhibitor, Kazal Pancreatic); EC 3.4.21.1 (Chymotrypsin); EC 3.4.21.2 (chymotrypsin C); EC 3.4.21.4 (PRSS1 protein, human); EC 3.4.21.4 (Trypsin)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170426
[St] Status:MEDLINE
[do] DOI:10.1038/ajg.2017.106


  5 / 920 MEDLINE  
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[PMID]:28420441
[Au] Autor:Lanthier N; Lin-Marq N; Rubbia-Brandt L; Clément S; Goossens N; Spahr L
[Ad] Endereço:Gastroenterology and Hepatology, University Hospitals and Faculty of Medicine, 4, Rue Gabrielle Perret-Gentil CH-1211, Geneva 14, Switzerland.
[Ti] Título:Autologous bone marrow-derived cell transplantation in decompensated alcoholic liver disease: what is the impact on liver histology and gene expression patterns?
[So] Source:Stem Cell Res Ther;8(1):88, 2017 Apr 18.
[Is] ISSN:1757-6512
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Liver stem cell therapy (SCT) has been suggested as a promising means to improve liver regeneration in advanced liver disease. However, data from trials are heterogeneous, with no systematic histological evaluation. The aim of this study is to specifically analyze the effect of autologous SCT on liver regeneration and on gene expression changes. METHODS: Individuals in the randomized controlled trial of SCT in alcoholic hepatitis with paired liver biopsies were included (n = 58). Immunohistochemistry (Ki67, K7, and CD68), in situ hybridization (SPINK1), and global gene expression analysis were performed on liver biopsies (30 control patients and 28 patients with transarterial administration of bone marrow-derived stem cells) both at baseline and after 4 weeks of follow-up. RESULTS: No difference between the two groups could be observed regarding the proliferative hepatocyte number, proliferative K7-positive cells, or total K7-positive cells at the 4-week follow-up liver biopsy. However, patients who received SCT showed a more important liver macrophagic expansion as compared to standard treatment. Transcriptome data revealed changes in genes linked with inflammation (CD68 and SAA), regeneration (SPINK1 and HGF), fibrosis (COL1A1), and stem cells (CD45). No changes in gene pathways involved in liver growth and cell cycle proteins were evident. SPINK1 mRNA was present by in situ hybridization at week 4 in SCT patients in the liver parenchyma areas adjacent to macrophage recruitment and liver cell proliferation. CONCLUSIONS: The analysis of liver tissue after SCT demonstrated an expansion of macrophages concurrent with an upregulated expression of genes involved in inflammatory and regenerative pathways. With the negative results from the clinical trial, the impact of the SCT has to be interpreted as weak, and it is not able to modify the clinical course of this severe liver disease.
[Mh] Termos MeSH primário: Hepatopatias Alcoólicas/terapia
Fígado/metabolismo
Transplante de Células-Tronco Mesenquimais/efeitos adversos
Transcriptoma
[Mh] Termos MeSH secundário: Adulto
Idoso
Antígenos CD/genética
Antígenos CD/metabolismo
Antígenos de Diferenciação Mielomonocítica/genética
Antígenos de Diferenciação Mielomonocítica/metabolismo
Proteínas de Transporte/genética
Proteínas de Transporte/metabolismo
Colágeno Tipo I/genética
Colágeno Tipo I/metabolismo
Feminino
Fator de Crescimento de Hepatócito/genética
Fator de Crescimento de Hepatócito/metabolismo
Seres Humanos
Antígenos Comuns de Leucócito/genética
Antígenos Comuns de Leucócito/metabolismo
Fígado/patologia
Macrófagos/metabolismo
Masculino
Células Mesenquimais Estromais/citologia
Células Mesenquimais Estromais/metabolismo
Meia-Idade
Proteína Amiloide A Sérica/genética
Proteína Amiloide A Sérica/metabolismo
Transplante Autólogo/efeitos adversos
Inibidor da Tripsina Pancreática de Kazal
[Pt] Tipo de publicação:JOURNAL ARTICLE; RANDOMIZED CONTROLLED TRIAL
[Nm] Nome de substância:
0 (Antigens, CD); 0 (Antigens, Differentiation, Myelomonocytic); 0 (CD68 antigen, human); 0 (Carrier Proteins); 0 (Collagen Type I); 0 (HGF protein, human); 0 (SPINK1 protein, human); 0 (Serum Amyloid A Protein); 0 (collagen type I, alpha 1 chain); 50936-63-5 (Trypsin Inhibitor, Kazal Pancreatic); 67256-21-7 (Hepatocyte Growth Factor); EC 3.1.3.48 (Leukocyte Common Antigens)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170420
[St] Status:MEDLINE
[do] DOI:10.1186/s13287-017-0541-2


  6 / 920 MEDLINE  
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[PMID]:28293024
[Au] Autor:Husain SZ; Srinath AI
[Ad] Endereço:Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pediatrics, 4401 Penn Avenue, Pittsburgh, Pennsylvania 15224, USA.
[Ti] Título:What's unique about acute pancreatitis in children: risk factors, diagnosis and management.
[So] Source:Nat Rev Gastroenterol Hepatol;14(6):366-372, 2017 Jun.
[Is] ISSN:1759-5053
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Pancreatitis in children is an appreciable problem that has become increasingly prevalent. This Review covers the principles related to the definitions, epidemiology, risk factors, diagnosis and management of acute pancreatitis in children and identifies features that are unique among children. Additionally, knowledge gaps related to management principles are identified.
[Mh] Termos MeSH primário: Pancreatite/terapia
[Mh] Termos MeSH secundário: Dor Abdominal/etiologia
Doença Aguda
Amilases/metabolismo
Antioxidantes/uso terapêutico
Proteínas de Transporte/genética
Criança
Colangiopancreatografia Retrógrada Endoscópica
Colecistectomia/métodos
Quimotripsina/genética
Regulador de Condutância Transmembrana em Fibrose Cística/genética
Progressão da Doença
Hidratação/métodos
Hospitalização
Seres Humanos
Lipase/metabolismo
Apoio Nutricional/métodos
Pancreatite/diagnóstico
Pancreatite/etiologia
Fatores de Risco
Tripsina/genética
Inibidor da Tripsina Pancreática de Kazal
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Antioxidants); 0 (CFTR protein, human); 0 (Carrier Proteins); 0 (SPINK1 protein, human); 126880-72-6 (Cystic Fibrosis Transmembrane Conductance Regulator); 50936-63-5 (Trypsin Inhibitor, Kazal Pancreatic); EC 3.1.1.3 (Lipase); EC 3.2.1.- (Amylases); EC 3.4.21.1 (Chymotrypsin); EC 3.4.21.2 (chymotrypsin C); EC 3.4.21.4 (PRSS1 protein, human); EC 3.4.21.4 (Trypsin)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170316
[St] Status:MEDLINE
[do] DOI:10.1038/nrgastro.2017.13


  7 / 920 MEDLINE  
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[PMID]:28095786
[Au] Autor:Koziel D; Gluszek S; Kowalik A; Chlopek M
[Ad] Endereço:Faculty of Medicine and Health Sciences, Jan Kochanowski University, Kielce, Poland. dorota.koziel@wp.pl.
[Ti] Título:CTRC gene polymorphism (p.G60=; c.180 C > T) in acute pancreatitis.
[So] Source:BMC Gastroenterol;17(1):13, 2017 Jan 17.
[Is] ISSN:1471-230X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The aim of the study was to determine the relationship between the presence of p.G60 = polymorphism (c.180C > T; rs497078) CTRC and the incidence together with the clinical course of acute pancreatitis (AP). METHODS: Two hundred ninety-nine people suffering from AP and 417 healthy volunteers were subjected to the study. DNA was isolated from blood samples. RESULTS: CTRC p.G60 = polymorphism (c.180C > T) occurred more frequently in the AP group (p = 0.015). The CT and TT genotype was found in 27.8% of the AP patients and in 19.9% of the healthy subjects (p = 0.017). No significant correlation was found between having the CT and TT genotype and the severity of the AP clinical course. In 6 patients (2%) with the CT genotype, a SPINK1 gene mutation was found, while in the control group it was found in 3 patients (0.7%), (p > 0.05). All patients with the present SPINK1 mutation with the CT genotype had a moderate or a severe course of the disease (p = 0.0007). CONCLUSIONS: CTRC polymorphism Hetero p.G60=; c.180C > T increases the risk of an AP occurrence and together with the SPINK 1 mutation, may be responsible for a more severe course of the disease.
[Mh] Termos MeSH primário: Quimotripsina/genética
Pancreatite/genética
Polimorfismo Genético
[Mh] Termos MeSH secundário: Doença Aguda
Proteínas de Transporte/genética
Estudos de Casos e Controles
Feminino
Predisposição Genética para Doença
Genótipo
Seres Humanos
Masculino
Meia-Idade
Mutação
Índice de Gravidade de Doença
Inibidor da Tripsina Pancreática de Kazal
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Carrier Proteins); 0 (SPINK1 protein, human); 50936-63-5 (Trypsin Inhibitor, Kazal Pancreatic); EC 3.4.21.1 (Chymotrypsin); EC 3.4.21.2 (chymotrypsin C)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170119
[St] Status:MEDLINE
[do] DOI:10.1186/s12876-016-0566-5


  8 / 920 MEDLINE  
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[PMID]:27738792
[Au] Autor:Huang KC; Evans A; Donnelly B; Bismar TA
[Ad] Endereço:Department of Pathology and Laboratory Medicine, University of Calgary and Calgary Laboratory Services, 7007, 14sth st sw, Calgary, AB, T2V 1P9, Canada.
[Ti] Título:SPINK1 Overexpression in Localized Prostate Cancer: a Rare Event Inversely Associated with ERG Expression and Exclusive of Homozygous PTEN Deletion.
[So] Source:Pathol Oncol Res;23(2):399-407, 2017 Apr.
[Is] ISSN:1532-2807
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:SPINK1 is proposed as potential prognostic marker in prostate cancer (PCA). However, its relation to PTEN and ERG in localized PCA remains unclear. The study population consisted of two independent cohorts of men treated by radical prostatectomy for localized PCA (discovery n = 218 and validation n = 129). Patterns of association between SPINK1 and each of ERG and PTEN were evaluated by immunohistochemistry and fluorescence in situ hybridization. Associations between SPINK1 expression and various pathologic parameters and clinical outcome were also investigated. SPINK1 was expressed in 15.3 % and 10.9 % of cases in the discovery and validation cohort, respectively. SPINK expression was observed in 5.56 % of high-grade prostatic intraepithelial neoplasia and 1.1 % of adjacent morphologically benign prostatic glands. SPINK1 and ERG expression were almost exclusive, with only 1.0 % of the cases co-expressing both in the same core sample. SPINK1 interfocal and within-core heterogeneity was noted in 29.2 % and 64.6 % of cases, respectively. SPINK1 expression was not significantly associated with PTEN deletion in the two cohorts (p = 0.871 for discovery cohort and p = 0.293 for validation cohort). While SPINK1 expression did occur with hemizygous PTEN deletion, there was a complete absence of SPINK1 expression in PCA showing homozygous PTEN deletion, which was confirmed in the validation cohort (p = 0.02). Despite SPINK1's association with higher Gleason score (>7) (p = 0.02), it was not associated with other pathological parameters or biochemical recurrence post-radical prostatectomy. We documented absolute exclusivity between SPINK1 overexpression and homozygous PTEN deletion in localized PCA. SPINK1 and ERG expressions are exclusive events in PCA. SPINK1 is not of added prognostic value in localized PCA.
[Mh] Termos MeSH primário: Proteínas de Transporte/genética
PTEN Fosfo-Hidrolase/genética
Neoplasias da Próstata/genética
[Mh] Termos MeSH secundário: Biomarcadores Tumorais/genética
Deleção de Genes
Seres Humanos
Masculino
Gradação de Tumores/métodos
Prognóstico
Próstata/patologia
Prostatectomia/métodos
Neoplasias da Próstata/patologia
Regulador Transcricional ERG/genética
Inibidor da Tripsina Pancreática de Kazal
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (Carrier Proteins); 0 (ERG protein, human); 0 (SPINK1 protein, human); 0 (Transcriptional Regulator ERG); 50936-63-5 (Trypsin Inhibitor, Kazal Pancreatic); EC 3.1.3.67 (PTEN Phosphohydrolase); EC 3.1.3.67 (PTEN protein, human)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161015
[St] Status:MEDLINE
[do] DOI:10.1007/s12253-016-0119-9


  9 / 920 MEDLINE  
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[PMID]:27941194
[Au] Autor:Jamer T; Iwanczak B
[Ad] Endereço:II Katedra i Klinika Pediatrii, Gastroenterologii i Zywienia Uniwersytetu Medycznego im. Piastow Slaskich we Wroclawiu, e-mail: tatiana.jamer@gmail.com.
[Ti] Título:[Genetic mutations as a cause of acute recurrent pancreatitis in children - case report and literature review].
[So] Source:Dev Period Med;20(3):228-234, 2016.
[Is] ISSN:1428-345X
[Cp] País de publicação:Poland
[La] Idioma:pol
[Ab] Resumo:Acute recurrent pancreatitis is not common in children. The epidemiology, etiology and clinical presentation of pediatric acute recurrent pancreatitis are not well understood. The etiology is diverse and multifactorial, with many cases being idiopathic. The most common etiology of acute recurrent pancreatitis in children are genetic factors, biliary duct disorders, anatomic anomalies of the pancreatobiliary system and metabolic diseases. Mutations are most commonly found in the cationic trypsynogen gene (PRSS1), the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cystic fibrosis transmembrane conductance regulator gene (CFTR). The case described here is that of a 6-year-old boy, without a family history of pancreatitis, who was hospitalized several times over 5 years, with epigastric pain and high serum levels of amylase and lipase. Genetic testing showed a heterozygous variation, c.194+2T>C (IVS3+2T>C) in the SPINK1 gene and variation c.1210-34TG(11) T(5) (IVS8-5T+(TG)11) in the CFTR gene. Other etiological factors also occurred leading to the initiation and relapses of the disease.
[Mh] Termos MeSH primário: Pancreatite/genética
Polimorfismo Genético/genética
[Mh] Termos MeSH secundário: Doença Aguda
Proteínas de Transporte/genética
Criança
Regulador de Condutância Transmembrana em Fibrose Cística/genética
Seres Humanos
Masculino
Tripsina/genética
Inibidor da Tripsina Pancreática de Kazal
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (CFTR protein, human); 0 (Carrier Proteins); 0 (SPINK1 protein, human); 126880-72-6 (Cystic Fibrosis Transmembrane Conductance Regulator); 50936-63-5 (Trypsin Inhibitor, Kazal Pancreatic); EC 3.4.21.4 (PRSS1 protein, human); EC 3.4.21.4 (Trypsin)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161213
[St] Status:MEDLINE


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[PMID]:27839872
[Au] Autor:Cheong SS; Hentschel L; Davidson AE; Gerrelli D; Davie R; Rizzo R; Pontikos N; Plagnol V; Moore AT; Sowden JC; Michaelides M; Snead M; Tuft SJ; Hardcastle AJ
[Ad] Endereço:Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
[Ti] Título:Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.
[So] Source:Am J Hum Genet;99(6):1338-1352, 2016 Dec 01.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Anterior segment dysgeneses (ASDs) comprise a spectrum of developmental disorders affecting the anterior segment of the eye. Here, we describe three unrelated families affected by a previously unclassified form of ASD. Shared ocular manifestations include bilateral iris hypoplasia, ectopia lentis, corectopia, ectropion uveae, and cataracts. Whole-exome sequencing and targeted Sanger sequencing identified mutations in CPAMD8 (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8) as the cause of recessive ASD in all three families. A homozygous missense mutation in the evolutionarily conserved alpha-2-macroglobulin (A2M) domain of CPAMD8, c.4351T>C (p. Ser1451Pro), was identified in family 1. In family 2, compound heterozygous frameshift, c.2352_2353insC (p.Arg785Glnfs 23), and splice-site, c.4549-1G>A, mutations were identified. Two affected siblings in the third family were compound heterozygous for splice-site mutations c.700+1G>T and c.4002+1G>A. CPAMD8 splice-site mutations caused aberrant pre-mRNA splicing in vivo or in vitro. Intriguingly, our phylogenetic analysis revealed rodent lineage-specific CPAMD8 deletion, precluding a developmental expression study in mice. We therefore investigated the spatiotemporal expression of CPAMD8 in the developing human eye. RT-PCR and in situ hybridization revealed CPAMD8 expression in the lens, iris, cornea, and retina early in development, including strong expression in the distal tips of the retinal neuroepithelium that form the iris and ciliary body, thus correlating CPAMD8 expression with the affected tissues. Our study delineates a unique form of recessive ASD and defines a role for CPAMD8, a protein of unknown function, in anterior segment development, implying another pathway for the pathogenicity of ASD.
[Mh] Termos MeSH primário: Segmento Anterior do Olho/anormalidades
Complemento C3/genética
Anormalidades do Olho/genética
Genes Recessivos/genética
Mutação
Inibidor da Tripsina Pancreática de Kazal/genética
alfa-Macroglobulinas/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Sequência de Aminoácidos
Segmento Anterior do Olho/metabolismo
Criança
Pré-Escolar
Complemento C3/química
Feminino
Seres Humanos
Masculino
Meia-Idade
Inibidor da Tripsina Pancreática de Kazal/química
Adulto Jovem
alfa-Macroglobulinas/química
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CPAMD8 protein, human); 0 (Complement C3); 0 (alpha-Macroglobulins); 50936-63-5 (Trypsin Inhibitor, Kazal Pancreatic)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161115
[St] Status:MEDLINE



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