ABSTRACT
El leiomiosarcoma de duodeno es una patología poco frecuente con mal pronóstico. Los pacientes presentan un cuadro clínico poco específico y el diagnóstico se realiza a través del estudio histopatológico en donde se reconoce una lesión mesenquimal conformada por células tumorales malignas; en el estudio de inmunohistoquímica se observa positividad para actina de músculo liso, desmina, actina de músculo específico, caldesmon y calponina. Se presenta el caso de una mujer de 56 años con leiomiosarcoma primario de duodeno con metástasis al páncreas y al tronco celíaco.
Duodenal leiomyosarcoma is a rare disease with poor prognoses for patients. The disease does not have a clear set of signs and symptoms that allows easy diagnosis. Diagnosis is made on the basis of histopathological identification of a mesenchymal lesion composed of malignant tumor cells and immunohistochemistry positive for smooth muscle actin, desmin, muscle specific actin, calponin and caldesmon. We report a case of a 56 year old woman with primary duodenal leiomyosarcoma which had metastasized to the pancreas and the celiac artery.
Subject(s)
Humans , Female , Middle Aged , Duodenum , Intestine, Small , LeiomyosarcomaABSTRACT
The P450c17a enzyme has a central role in ovarian hyperandrogenism, which is a characteristic of polycystic ovary syndrome (PCOS). Several studies have suggested a possible role for the CYP17 gene, which codes for the enzyme P450c17a and the -34bp T-C polymorphism in the development of hyperandrogenism. The presence of the cytosine, know as A2 allele, has been associated with hyperandrogenism in patients with PCOS. Objective: To evaluate the frequency and association of the -34bp polymorphism in the CYP17 gene and determine its association with hormonal and metabolic characteristics in women with DM1. Patients and Methods: The CYP17 polymorphism was studied in 72 DM1 and 71 control women by PCR and RFLP analysis. The CYP17 genetic dosage was compared with the antropometrical characteristics and the serum concentrations of testosterone, androstenedione, DHEAS and 17OH progesterone in women with DM1. Results: Genotype A2/A2 was present in 20.8 percent and 7.1 percent of DM1 and controls, respectively (p = 0,034). Allele A2 was present in 40.3 percent and 27.5 percent of DM1 and healthy women, respectively (p = 0,031). No association between CYP17 genotypes and hormonal or metabolic characteristics was observed. Conclusion: This study shows that the frequency of the A2/A2 genotype was higher in women with DM1 than in the control group. However, no association between the presence of the polymorphism and circulating steroid levels or BMI was observed.
Subject(s)
Humans , Female , Adolescent , Adult , Diabetes Mellitus, Type 1/genetics , /genetics , Polymorphism, Genetic , Anthropometry , Gene Frequency , Genetic Markers , Genotype , Hyperandrogenism/genetics , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , /geneticsABSTRACT
We are reporting a 37 year old male with severe oligozoospermia and a history of infertility for thirteen years and surgery for severe unilateral varicocele. The hormonal levels for FSH, LH and T, and karyotype were within the normal range. Multiplex PCR revealed the presence of a de novo microdeletion in the azoospermia factor (AZF) c region involving the deleted in azoospermia (DAZ) and basic protein Y-2 (BPY2) genes. These results suggest that severe oligozoospermia should be considered for the screening of microdeletions of Yq involving the AZFc region even in the presence of a varicocele