Biomedical subjects
Publications and source records attributed to A Osorio.
The canary fight is a sport with traditional character deeply-rooted in Spain. The pinna rubbing by bodies contact in hand-to-hand combat produce a typical deformity. We present this pathology not only due to its specific pathogenesis but also as part of the cultural patrimony of Canary Islands (Fortunate Islands).
The recently isolated gene BRCA2 is responsible for about 45% of familial breast cancer and the majority of male breast cancer families. We have screened 12 high risk breast/ovarian Spanish families for mutations in BRCA2, using SSCP followed by direct sequencing. We have found mutations in four of our 12 families (33.3%), including two with male breast cancer. Three of the mutations were frameshift and one was a missense. Two of the mutations have been previously published and two are new mutations.
Previous studies have shown that the 1q31-32 region frequently presents allelic imbalance (AI) in various neoplastic diseases, such as breast cancer, medulloblastoma, male germ cell tumors, and renal collecting duct carcinoma, suggesting the presence of a tumor suppressor gene in this location. We used 19 informative microsatellite markers to analyze 33 primary breast tumors for AI in the 1q31-32 region. Our results demonstrate a 10-cM critical region of AI that is present in more than 60% of the tumors. This region is located proximal to the REN locus and is flanked by the CACNL1A3 and D1S2655 markers. Most important, the critical region of AI coincides with a female hot spot of recombination, suggesting a possible correlation between the two regions.
We report a 12-year-old boy receiving long-term peritoneal dialysis who developed marked hypercalcemia and pancreatitis. Hypercalcemia was successfully treated by conducting dialysis with non-calcium-containing dialysate fluid. Factors predisposing to the development of hypercalcemia included the presence of adynamic bone disease and the use of vitamin D and calcium carbonate therapy. This case is presented to emphasize potential complications that can be associated with the adynamic bone lesion in patients on peritoneal dialysis.
A wide array of mutations now numbering more than 200 have been identified in the BRCA1 gene, one of the two breast cancer susceptibility genes identified so far. In addition, there have been several variants described but it is not known if they really represent functionally significant mutations of the BRCA1 gene. We report evidence to show that the duplication/ insertion of 12 base pairs in intron 20 could have a real effect on expression of the BRCA1 gene, although it was also present in 1% of our control population.
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Hypothyroid female rats were treated with T4 and their 5'DI and 5'DII deiodinases were inhibited by PTU and IOP administration to determine whether the effect of T3 on reproductive function is a primary event at hypothalamo-pituitary levels or ovarian levels. Hypothyroid adult female rats were divided into four groups: Hypothyroid without treatment (H); hypothyroid treated with T4 (H-T4); hypothyroid treated with T4 plus propylthiouracil (H-T4-PTU), and hypothyroid treated with T4 plus iopanoic acid (H-T4-IOP). A group of euthyroid rats (E) was included as control. Estrous cycle, ovarian histological changes and serum estradiol and gonadotropin levels (basal and after GnRH) were searched in all groups. In view of our results and since sexual cycles and puberal pattern in gonadotropin secretion were restored after all treatments we can suggest: That T4 could have an intrinsic effect on reproductive function in adult hypothyroid female rats or that another compensatory T3 mechanism unaffected by IOP could exist. The present report points out that the effect of T3 on reproductive function could be a primary event at hypothalamopituitary levels although an effect at ovarian levels could not be excluded.
Cytogenetic damage was evaluated by means of the analysis of sister-chromatid exchange (SCE) in a rural population of Tlaxcala, Mexico, in occupational contact with pesticides. We studied 170 men, 94 exposed and 76 not exposed. It was shown that SCE followed a normal distribution and Student's t test did not present differences between the two groups (P = 0.4). The frequency of SCE was not correlated with the duration of exposure of the rural workers (r = -0.06), the multiple covariance analysis applied to the data of duration of exposure, tobacco intake and alcohol ingestion demonstrated a lack of statistical significance. In the exposed people we observed no symptoms provoked by these compounds.
The study of folk illnesses provides insight into client health beliefs and behaviors. This paper describes the expression of empacho in children living in a mainland Puerto Rican community. Etiology, symptom presentation, and treatment options in various health care sectors, as well as an investigation of overlapping folk/biomedical symptom domains are described. Implications regarding health and health care in the multicultural setting are discussed.
Adrenal myelolipoma is a benign tumor associated with chronic disease and a long survival after surgical exeresis. It is scarcely symptomatic and only exceptionally has an acute onset, wherein lies the interest of this report.
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The results of scintigraphy in 143 children with suspected hydatid disease are reported. In 65 cases, the presence of cysts as detected by scintigraphy was confirmed at surgery. In 78 cases, scintigraphy ruled out liver hydatid disease. In 52 cases with confirmed liver HC, only conventional colloid scintigraphy was carried out. A review of images is performed. In 13 patients, with a total number of 19 cysts, blood pool liver scintigraphy was done in order to investigate the degree of vascularization of the space-occupying lesion, disclosed earlier by colloid scan, and clarify its nature. A review of images is performed. The importance of the procedure is discussed reaching to the conclusion that it is advantageous to carry out colloid and blood pool liver scintigraphy prior to surgical treatment of liver hydatid disease.
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