RESUMO
Cystic fibrosis [CF] is the most common autosomal recessive disorder caused due to mutation/s in the CFTR gene. The most common mutation in CFTR worldwide is delta F508 and cystic fibrosis genetic analysis consortium revealed that this mutation is responsible for approximately 66% of all CF chromosomes in the world. Studies looking at the DNA polymorphic haplotypes created by CF linked markers suggest that delta F508 has a single origin as this mutation has been found associated exclusively with one marker haplotype. Despite a high prevalence of this mutation in CF patients in northern parts of Europe, findings suggest that this mutation was not spread by Europeans but by a group that is speculated to have originated in the Middle East or a more eastern region in Asia [most likely subcontinent]. Over here we have given a brief introduction to cystic fibrosis and classification of CFTR mutations and have further elaborated on the crucial issue about the spread of the delta F508 mutation. We have reviewed findings that give clues about the origin of this mutation from the Baluch ethnicity residing in Pakistan
Assuntos
Humanos , Mutação , Fibrose CísticaRESUMO
Physical exercise is among the key determinants of health. The role of physical exercise in health promotion was well known to the ancient Chinese. Even moderate activity such as daily brisk walking for 30 to 60 minutes, is associated with significant reductions in the incidence and mortality of cardiovascular disease. Benefits of increased physical activity have been shown among patients with hypertension, diabetes mellitus, and dyslipidemia. Therefore, a need was identified to study the perceptions and practice concerning physical exercise among patients in Karachi, Pakistan. A questionnaire based cross-sectional survey was conducted at the Family Practice Center, The Aga Khan University Hospital, Karachi, from March to July 2002. A total of 393 patients were surveyed. This is a short Communication