[Study of the segregation pattern of the genes responsible for hemophilia A].
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Biomedical subjects
Publications and source records attributed to V Nunes.
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Eighteen albino rats at the age of 15 days were separated in 2 groups of 9 and fed cow's milk exclusively. The milk supplied to the control rats (group I) was supplemented with iron and copper. The months later, the rats were scarificed. The animals of group II were severely anaemic. In each rat, a histological examination of gastric (in group II, only in 2 rats) and jejunal mucosa as well as measurements of total thickness, villous height, epithelial cell height and mitotic index were made. Histology was normal in all the rats. Measurements gave similar results in both groups except for the epithelial cell height which was significantly higher in anaemic rats than in controls. The authors take issue with the methodology followed in previous studies concerning iron-deficient children and suggest that the causal relation between iron deficiency and structural changes of intestinal mucosa in children has not yet been proven.
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Polish CF patients were screened extensively for mutations in the CFTR gene. Screening data demonstrated a high heterogeneity of CFTR mutations in the Polish population. Total 30 different mutations were characterised in 24 exons or introns of the gene. Among them, six mutations have been reported for the first time and submitted to the CF Genetic Analysis Consortium. In addition, 15 different polymorphisms were found, including three new ones. The screening resulted in 9% increase of the detection rate of CFTR alleles in the tested population. Frequencies of two of the identified mutations (CFTRdele2,3 and 2184insA) are relatively high (2.6% and 1%, respectively) and justify their inclusion into routinely screened mutations in genetic testing of Polish CF population.
INTRODUCTION: Various studies have related Alzheimer s disease (AD) with mitochrondrial defects. These defects may be structural, biochemical or genetic in type. Amongst the genetic defects the rearrangement and particular mutations described in mitochondrial DNA (mtDNA) are striking. OBJECTIVE: To study the incidence of rearrangement and 4 particular mutations in the mtDNA of patients with AD, and determine the possible differences from persons taken as controls. PATIENTS AND METHODS: Necropsies of the cerebellum, frontal cortex and hippocampus of patients with AD and controls. We also used blood from living patients diagnosed as having EA and from controls. The samples were analysed using hybrid Southern blot with a mitochondrial probe. Particular mutations G3196A, A3397G, A4336G and G5460A/T were also analysed. RESULTS: No differences were found between the patients and controls, in either brain tissue or blood on analysis using Southern. No association was found between the particular mutations analysed and the AD of our samples. CONCLUSIONS: The results obtained did not support the hypothesis of involvement of mitochondria in AD. Regarding rearrangement and the 4 particular mutations analysed in the mtDNA of our samples. However, this does not rule out the possible existence of other particular mutations which were not analysed and/or other mitochondrial defects which contribute to the development of AD.
The correct practice of specialized Clinical Pathology is dependent on the acquired aptitude and capacity gained by residents during their specialization. So, the adopted program for residents must be practical and detailed, obviously exceeding the simple and routine execution of laboratory methods and techniques. In this paper the authors describe a scheme for the Clinical Pathology residents practical program in hematology. The program is applied to a central laboratory (Hospital de Santa Maria - Lisboa). This scheme describes the basic principles for orientation of residents: systematic learning and training of laboratory technology, acquisition of experience in organization and valorizing this activity, introduction to methods and practice of quality control and administration of laboratory activity. Methodological studies and valorization are adapted to its clinical and technical specifications. Furthermore, specialization must include other theoretical and practical activities, which are in fact essential to systematization, organization and consolidation or residents knowledge. We schematized the discussion of technical reports, conception and discussion of investigation protocols and active participation in scientific meetings in this field. Responsibility for the execution of practical scientific work and for the presentation of the final report are fundamental to assess the experience and knowledge that has been acquired and simultaneously to give a mean of self criticism and perfectionism. In fact, this last aspect must be a part of the discussion and conclusion of the final report. In this paper, all these particularities are presented and the methods for their effective use are suggested in detail.(ABSTRACT TRUNCATED AT 250 WORDS)
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