ABSTRACT
BACKGROUND: adenocarcinoid tumor is a rare malignancy that combines clinical and histological features of epithelial origin (adenocarcinoma) and neuroendocrine (carcinoid), occupies less than 1 % of all colorectal cancer histology, occurring mainly in the appendix and its presence in the colon is rare. CLINICAL CASE: we present a case of a 41-year-old female with sigmoid colon tumor, who underwent an extended left hemicolectomy and anastomosis; having a good postoperative evolution, with hospital stay of seventh days. The final histopathological study reported was adenocarcinoid colon tumor with free margins of injuries and four positive nodes of adenocarcinoma. CONCLUSIONS: adenocarcinoid tumors are present in the appendix in 85 to 95 % of all cases and only 6 % are located in the colon (13 % in sigmoid). Early diagnosis is certainly the most important determinant of good prognosis, in these cases the five-year survival is 80 to 84 %, and 15 years of 60 %.
Subject(s)
Adenocarcinoma , Colonic Neoplasms , Adenocarcinoma/diagnosis , Adenocarcinoma/surgery , Adult , Colonic Neoplasms/diagnosis , Colonic Neoplasms/surgery , Female , HumansABSTRACT
Newborn was referred with diagnosis of neonatal epilepsy. Medical team could suspect and confirm D-bifunctional peroxisomal enzymatic deficiency diagnosis. It was made by family antecedents, severe neonatal hypotonia, uncontrolled neonatal seizures, craniofacial dysmorphic features, psychomotor retardation, neuronal migration defect and a positive peroxisomal panel. The full study in skin fibroblasts involved enzyme analysis, complementation studies and DNA analysis. The accumulation of very long chain fatty acids, partial deficiency in phytanic acid oxidation, and abnormal morphology of peroxisomes was consistent with a defect in peroxisomal fatty acid oxidation, involving D-bifunctional protein. It is very important to make a diagnosis of this innate error of metabolism in order to give preconceptional genetic counseling, to identify recurrence risk and to perform mutation analysis for the D-bifunctional protein gene, and to offer the prenatal diagnosis.
Subject(s)
3-Hydroxyacyl CoA Dehydrogenases/deficiency , Enoyl-CoA Hydratase/deficiency , Isomerases/deficiency , Metabolic Diseases/diagnosis , Humans , Infant, Newborn , Male , Multienzyme Complexes/deficiency , Peroxisomal Bifunctional EnzymeABSTRACT
A 50 pacientes en estudio por reflujo gastroesofágico, con edad promedio de 20.7 meses (rango de 1 mes a 192 meses), se les realizó esofagogastroduodenoscopia bajo anestesia general, con fibroscopio XP10 y videogastroscopio EG2900. Del tercio inferior del esófago, se tomaron biopsias con pinzas e 1.8 y 2 mm. Se utilizó la clasificación endoscópica de Zendka Maratka y las clasificaciones histológicas de la Sociedad Europea de gastroenterología y Nutrición Pediátrica (segnp), y la clasificación del Servicio de Patología del Hospital de Especialidades (SOHE) del Centro Médico La Raza. Hubo 32 pacienes con esofagitis grado I, 15 con grado II, y 3 con grado III. Los hallazgos histológicos fueron variables. cuando se compararon las dos clasificaciones histológicas se encontró que ocho y 12 pacientes, (SEGNP y SPHE) no presentaron alteraciones. No existió reciprocidad entre los hallazgos endoscópicos e histológicos
