Search results for "pathology [Brain Neoplasms]"

showing 10 items of 1714 documents

Extensive molecular analysis of patients bearing CFTR-related disorders.

2012

Cystic fibrosis transmembrane conductance regulator (CFTR)–related disorders (CFTR-RDs) may present with pancreatic sufficiency, normal sweat test results, and better outcome. The detection rate of mutations is lower in CFTR-RD than in classic CF: mutations may be located in genes encoding proteins that interact with CFTR or support channel activity. We tested the whole CFTR coding regions in 99 CFTR-RD patients, looking for gene mutations in solute carrier (SLC) 26A and in epithelial Na channel (ENaC) in 33 patients who had unidentified mutations. CFTR analysis revealed 28 mutations, some of which are rare. Of these mutations, RT-PCR demonstrated that the novel 1525-1delG impairs exon 10 s…

Epithelial sodium channelcongenital hereditary and neonatal diseases and abnormalitiesCystic fibrosis CFTR SLC26A SCNNCystic FibrosisAnion Transport ProteinsDNA Mutational Analysismolecular analysiCystic Fibrosis Transmembrane Conductance RegulatorGene mutationPathology and Forensic Medicinecongenital bilateral absence of vasa deferentesExonGene Frequencydisseminated bronchiectasiscongenital bilateral absence of vasa deferenteHumansTrypsinmolecular analysisEpithelial Sodium ChannelsGeneCells CulturedGenetic Association StudiesGeneticsbiologydisseminated bronchiectasiEpithelial Cellsrespiratory systemrecurrent pancreatitidigestive system diseasesCystic fibrosis transmembrane conductance regulatorrespiratory tract diseasesSolute carrier familyCFTR related disordersTrypsin Inhibitor Kazal PancreaticCase-Control StudiesRNA splicingMutationbiology.proteinMolecular MedicineCFTR related disorderSLC26 familyCarrier ProteinsNa channel ENaCMinigenerecurrent pancreatitis

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The Epithelial Mesenchymal Transition Process in Wilms Tumor

2011

Background Until now, only a few mouse-transplanted human tumors or experimental Wilms tumor (WT) cell lines have been described. The aim of this study was to show the biological behavior, including histology, immunohistochemistry (IHC), and molecular biology, of a WT including the original tumor and metastasis transferred into nude mice and followed for successive generations in xenografts. Methods A WT metastasis was xenotransplanted into nude mice and the mice was monitored for 7 passages over a period of 29 months; the original neoplasm was comparatively studied. The morphology was evaluated by optical and electron microscopy. The protein expression was analyzed by immunohistochemistry …

Epithelial-Mesenchymal TransitionHistologyDNA Mutational AnalysisMice NudeCell Growth ProcessesWilms TumorBone and BonesPathology and Forensic MedicineMetastasisMicemedicineAnimalsHumansEpithelial–mesenchymal transitionNeoplasm MetastasisOncogene ProteinsN-Myc Proto-Oncogene ProteinTissue microarrayChemistryMesenchymal stem cellNuclear ProteinsEye Diseases HereditaryWilms' tumorHistologyStriated muscle cell differentiationMicroarray Analysismedicine.diseaseImmunohistochemistryXenograft Model Antitumor AssaysKidney NeoplasmsWnt ProteinsRadiusMedical Laboratory TechnologyMutationCancer researchImmunohistochemistrySignal TransductionApplied Immunohistochemistry & Molecular Morphology

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Menores que Maltratan a sus Progenitores: definición Integral y su Ciclo de Violencia

2017

Dentro del maltrato familiar, la violencia filio-parental es una línea de investigación en el ámbito de la psicología y la pedagogía de cierta relevancia actual. En la primera parte del artículo se pretende analizar este fenómeno, desde las perspectivas psicoeducativa y jurídica, para aportar una definición integral que abarque diferentes perspectivas de la violencia filio-parental, porque la intervención y prevención de ésta debe partir del conocimiento acerca de las causas y mecanismos que intervienen en el complejo ámbito de ésta violencia intrafamiliar, así como de las relaciones e interacciones que se establecen entre hijos, hijas y progenitores. Por ello, la segunda parte del artículo…