Inhalation therapy in the next decade : Determinants of adherence to treatment in asthma and COPD

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Cystic fibrosis mutations R1162X and 2183AA<FONT FACE=Symbol>&reg;</FONT>G in two southern Brasilian states

We screened 79 southern Brazilian patients with cystic fibrosis for the rare cystic fibrosis mutations R1162X and 2183AA<FONT FACE="Symbol">&reg;</FONT>G. Forty-nine patients were born in the State of Paraná (PR) and 30 in the State of Santa Catarina (SC). Two 2183AA<FONT FACE="Symbol">&reg;</FONT>G alleles were found among the SC patients and one among the PR patients. Six R1162X alleles were found among the SC patients and one among the PR patients. Fourteen percent of the alleles found among patients of Italian origin were R1162X, and 7% were 2183AA<FONT FACE="Symbol">&reg;</FONT>G mutations. These mutations, together with <FONT FACE="Symbol">D</FONT>F508, were also studied in a sample of 270 normal non-related subjects of Italian origin who have been born in PR. In this sample we found two <FONT FACE="Symbol">D</FONT>F508 alleles and one 2183AA<FONT FACE="Symbol">&reg;</FONT>G allele. <FONT FACE="Symbol">D</FONT>F508, R1162X and 2183AA<FONT FACE="Symbol">&reg;</FONT>G frequencies were not statistically different from those observed in Italy. Our results demonstrate that it is important to include these mutations in southern Brazilian surveys of cystic fibrosis patients, especially when they are of Italian descent.<br>Realizou-se a análise de 79 pacientes provenientes do Sul do Brasil para duas mutações raras da fibrose cística (CF), R1162X e 2183AA<FONT FACE="Symbol">&reg;</FONT>G; dentre estes pacientes, 49 eram nascidos no Estado do Paraná (PR) e 30 eram nascidos no Estado de Santa Catarina (SC). Para a mutação 2183AA<FONT FACE="Symbol">&reg;</FONT>G, dois alelos foram detectados entre os pacientes de SC e um alelo nos pacientes de PR. Para a mutação R1162X, seis alelos foram detectados entre os pacientes de SC e um alelo entre os pacientes do PR. Quando estes pacientes foram classificados de acordo com a origem étnica, 14% dos alelos detectados entre os pacientes de origem italiana eram portadores da mutação R1162X e 7% da mutação 2183AA<FONT FACE="Symbol">&reg;</FONT>G. Estas mutações, juntamente com a mutação <FONT FACE="Symbol">D</FONT>F508, também foram analisadas em uma amostra de 270 indivíduos normais de origem italiana não-consangüíneos, os quais eram nascidos no Estado do PR. Nessa amostra foram detectados dois alelos <FONT FACE="Symbol">D</FONT>F508 e um alelo 2183AA<FONT FACE="Symbol">&reg;</FONT>G. As freqüências das mutações <FONT FACE="Symbol">D</FONT>F508, R1162X e 2183AA<FONT FACE="Symbol">&reg;</FONT>G não mostraram desvio estatístico significativo daquelas freqüências observadas no norte da Itália. Nossos resultados demonstram que é importante incluir estas mutações no conjunto de mutações a serem pesquisadas nos pacientes com FC do sul do Brasil, especialmente quando estes pacientes tiverem origem italiana

cystic fibrosis mutations r1162x and 2183aa g in two southern brasilian states

We screened 79 southern Brazilian patients with cystic fibrosis for the rare cystic fibrosis mutations R1162X and 2183AA®G. Forty-nine patients were born in the State of Paraná (PR) and 30 in the State of Santa Catarina (SC). Two 2183AA®G alleles were found among the SC patients and one among the PR patients. Six R1162X alleles were found among the SC patients and one among the PR patients. Fourteen percent of the alleles found among patients of Italian origin were R1162X, and 7% were 2183AA®G mutations. These mutations, together with DF508, were also studied in a sample of 270 normal non-related subjects of Italian origin who have been born in PR. In this sample we found two DF508 alleles and one 2183AA®G allele. DF508, R1162X and 2183AA®G frequencies were not statistically different from those observed in Italy. Our results demonstrate that it is important to include these mutations in southern Brazilian surveys of cystic fibrosis patients, especially when they are of Italian descent

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

The increasing number of laboratories offering molecular genetic analysis of the CFTR gene and the growing use of commercial kits strengthen the need for an update of previous best practice guidelines (published in 2000). The importance of organizing regional or national laboratory networks, to provide both primary and comprehensive CFTR mutation screening, is stressed. Current guidelines focus on strategies for dealing with increasingly complex situations of CFTR testing. Diagnostic flow charts now include testing in CFTR-related disorders and in fetal bowel anomalies. Emphasis is also placed on the need to consider ethnic or geographic origins of patients and individuals, on basic principles of risk calculation and on the importance of providing accurate laboratory reports. Finally, classification of CFTR mutations is reviewed, with regard to their relevance to pathogenicity and to genetic counselling