Cystic fibrosis in Northern Ireland.

Prevalence and survival of patients with cystic fibrosis in Northern Ireland, 1961-1971.

CYSTIC fibrosis (CF) is the most common autosomal recessive disorder in Caucasian populations, with a prevalence at birth of approximately 1 in 2,000. The prevalence shows considerable geographical variation, ranging from 1 in 3771 to more than 1 in 10,000.2 Although most of this variation can be attributed to methods of ascertainment and diagnosis of CF, some may be due to true geographical va...

CFTR Mutations in Congenital Absence of Vas Deferens

A qualitative diagnosis of infertility requires attention to female and male physical abnormalities, endocrine anomalies and genetic conditions that interfere with reproduction. Many genes are likely to be involved in the complex process of reproduction. Cystic fibrosis (CF) incidence varies in different White people populations (a higher incidence of CF is observed in northern–western European...

Splenectomy in cystic fibrosis patients.

Positive Expiratory Pressure (PEP) versus Conventional Chest Physiotherapy in Pediatric Patients with Acute Exacerbation of Cystic Fibrosis

Background Pulmonary involvement is the main cause of mortality in cystic fibrosis (CF). Airway clearance techniques are non-pharmacological complement options for CF patients. The aim of this study was to evaluate the short-term outcome of airway cleaning treatment in patients with cystic fibrosis in a children's hospital. Materials and Methods This clinical trial study conducted on 40 CF pati...

Molecular screening of R117H mutation in non caucasian cystic fibrosis patients in the north of Iran

Cystic fibrosis is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator protein. These mutations that correlate with different phenotypes, vary in their frequency and distribution in different populations. In this study missense mutation R117H that associated with the different clinical symptoms wa...