الملخص
In order to improve carrier detection of Duchenne and Becker muscular dystrophy, denucleotide sequences repeats (CA) of introns 44, 45, 49 and 50 were used as well as two markers located at the 5' and 3' ends of the dystrophin gene. Haplotypes of the unaffected and affected persons of ten DMD/BMD Mexican families were determined. Fifty eight females were studied, 30 of whom were at-risk STR haplotypes. Furthermore, it was possible to identify a recombination event in the dystrophin gene in one family, and a gonadal mosaicism was found in another family
الموضوعات
DNA/isolation & purification , Dystrophin/isolation & purification , Electrophoresis , Genetic Carrier Screening , Genetic Markers/physiology , Muscular Dystrophies/diagnosis , Nucleotides , Polymorphism, Genetic/physiologyالملخص
A total of 46 clinical isolates of Klebsiella pneumoniae were studied. Of these, 33 were from "Hospital Infantil de Mexico" (HIM) and 13 from "Hospital General de Mexico" (HGM). The susceptibility of these strains to five antibiotics, as well as the plasmid DNA profiles, were determined for each group. Antibiotic susceptibility profiles were very similar in strains from both hospitals; however, most of the strains analyzed exhibited heterogeneous plasmid DNA profiles. Results showed that strains isolated in the two hospitals did not differ regarding morphology, biochemical profiles, antibiotic susceptibility or plasmid populations, and these characteristics may not be used as markers to differentiate Klebsiella pneumoniae strains from different hospitals
الموضوعات
Infant, Newborn , Infant , Humans , Amikacin/therapeutic use , Ampicillin/therapeutic use , Anti-Bacterial Agents/pharmacology , Anti-Bacterial Agents/therapeutic use , Cefotaxime/therapeutic use , Drug Resistance, Microbial/physiology , Cross Infection/therapy , Klebsiella Infections/physiopathology , Klebsiella pneumoniae/pathogenicity , Plasmids/analysis , Sulbactam/therapeutic use , Trimethoprim/therapeutic useالملخص
Forty unrelated Mexican patients with Duchenne/Backer muscular dystrophy were analyzed for intragenic DMD gene deletions, using the multiplex amplification of 15 deletion-prone oxons described by Chamberlain et al. and beggs et al. The percentage of deletions was 52.5 percent, and the majority of them (86.3 percent) were located at the hot spot deletion region which encompasses exons 44 - 55. This frequency is higher than that found in American and European populations. There were no correlations between deletion size, location and clinical severity