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371.
Johanna C Penell Brenda N Bonnett John Pringle Agneta Egenvall 《Acta veterinaria Scandinavica》2009,51(1):50
Background
Computerized diagnostic information offers potential for epidemiological research; however data accuracy must be addressed. The principal aim of this study was to evaluate the completeness and correctness of diagnostic information in a computerized equine clinical database compared to corresponding hand written veterinary clinical records, used as gold standard, and to assess factors related to correctness. Further, the aim was to investigate completeness (epidemiologic sensitivity), correctness (positive predictive value), specificity and prevalence for diagnoses for four body systems and correctness for affected limb information for four joint diseases. 相似文献372.
Gaucher disease type III (GD) is found at a high frequency in northern Sweden. The contemporary Swedish index families are found in two geographically distinct clusters with the highest world-wide frequency of type III GD. A single T-to-C transition in exon 10 has previously been identified in patients from one of the two isolates and we report there the same mutation in the second isolate. Mutational analysis was combined with a genealogical reconstruction of 19 contemporary index families. Both clusters were traced back to two corresponding pairs of ancestors over a 9–13 generation span. Molecular studies show that the two clusters are compatible with a single founder who arrived in northern Sweden in or before the 16th century. 相似文献
373.
Franca Dagna Bricarelli M. Fraccaro J. Lindsten U. Müller P. Baggio Laura Doria Lamba Carbone A. Hjerpe F. Lindgren Antonia Mayerová H. Ringertz E. M. Ritzén D. C. Rovetta C. Sicchero U. Wolf 《Human genetics》1981,57(1):15-22
Summary Three families with infants affected with campomelic dysplasia, a genetically determined mesenchymal disease frequently associated with sex reversal were studied. Two XY famales with ovarian gonadal differentiation and typical clinical features of campomelic dysplasia could be tested for H-Y antigen and were found to be H-Y negative. 相似文献
374.