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1.
Praxis (Bern 1994) ; 111(12): 707-709, 2022 Sep.
Artículo en Alemán | MEDLINE | ID: mdl-36102024

RESUMEN

Just Anorexia? Abstract. We report the case of a 30-year-old woman presenting with fatigue, loss of weight, nausea, emesis and hyponatremia. The evaluation proved Addison's disease due to an autoimmune polyendocrine syndrome type 2 with Hashimoto thyreoiditis. Under substitution with hydrocortisone and fludrocortisone all the symptoms subsided completely.


Asunto(s)
Enfermedad de Addison , Hiponatremia , Poliendocrinopatías Autoinmunes , Enfermedad de Addison/diagnóstico , Enfermedad de Addison/tratamiento farmacológico , Adulto , Anorexia/etiología , Femenino , Humanos , Hidrocortisona/uso terapéutico , Poliendocrinopatías Autoinmunes/diagnóstico
2.
Oncotarget ; 6(39): 41453-63, 2015 Dec 08.
Artículo en Inglés | MEDLINE | ID: mdl-26496026

RESUMEN

AIM: VE1 is a monoclonal antibody detecting mutant BRAFV(600E) protein by immunohistochemistry. Here we aim to determine the inter-observer agreement and concordance of VE1 with mutational status, investigate heterogeneity in colorectal cancers and metastases and determine the prognostic effect of VE1 in colorectal cancer patients. METHODS: Concordance of VE1 with mutational status and inter-observer agreement were tested on a pilot cohort of colorectal cancers (n = 34), melanomas (n = 23) and thyroid cancers (n = 8). Two prognostic cohorts were evaluated (n = 259, Cohort 1 and n = 226, Cohort 2) by multiple-punch tissue microarrays. VE1 staining on preoperative biopsies (n = 118 patients) was compared to expression in resections. Primary tumors and metastases from 13 patients were tested for VE1 heterogeneity using a tissue microarray generated from all available blocks (n = 100 blocks). RESULTS: Inter-observer agreement was 100% (kappa = 1.0). Concordance between VE1 and V600E mutation was 98.5%. Cohort 1: VE1 positivity (seen in 13.5%) was associated with older age (p = 0.0175) and MLH1 deficiency (p < 0.0001). Cohort 2: VE1 positivity (seen in 12.8%) was associated with female gender (p = 0.0016), right-sided tumor location (p < 0.0001), higher tumor grade (p < 0.0001) and mismatch repair (MMR)-deficiency (p < 0.0001). In survival analysis, MMR status and postoperative therapy were identified as possible confounding factors. Adjusting for these features, VE1 was an unfavorable prognostic factor. Preoperative biopsy staining matched resections in all cases except one. No heterogeneity was found across any primary/metastatic tumor blocks. CONCLUSION: VE1 is highly concordant for V600E and homogeneously expressed suggesting staining can be analysed on resection specimens, preoperative biopsies, metastatic lesions and tissue microarrays.


Asunto(s)
Anticuerpos Monoclonales , Biomarcadores de Tumor/genética , Neoplasias Colorrectales/genética , Inmunohistoquímica , Mutación , Proteínas Proto-Oncogénicas B-raf/genética , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/inmunología , Biopsia , Neoplasias Colorrectales/enzimología , Neoplasias Colorrectales/inmunología , Neoplasias Colorrectales/mortalidad , Neoplasias Colorrectales/patología , Neoplasias Colorrectales/terapia , Análisis Mutacional de ADN , Femenino , Alemania , Células HCT116 , Células HT29 , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Variaciones Dependientes del Observador , Proyectos Piloto , Valor Predictivo de las Pruebas , Proteínas Proto-Oncogénicas B-raf/inmunología , Reproducibilidad de los Resultados , Estudios Retrospectivos , Factores de Riesgo , Suiza , Análisis de Matrices Tisulares , Resultado del Tratamiento
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