We present a phenotype-genotype correlation analysis in 12 patients with cystic fibrosis (CF) carrying the mutation R334W in the CFTR gene. The clinical data obtained for this group were compared with the clinical data of deltaF508/deltaF508 patients. Current age and age at diagnosis were significantly higher in the R334W mutation group (p=0.028 and p=0.0001). We found a lower rate of Pseudomon...

OBJECTIVE To assess proteinuria in patients with cystic fibrosis (CF), and to correlate proteinuria with genotype, CF-related diabetes and disease severity. METHODS A prospective study was carried out over a six-month period and involving 22 CF patients. After the collection and analysis of 24-h urine samples, the patients were divided into two subgroups: protein excretion < 150 mg/day (low-p...

The CFTR gene contains 27 exons and is located at position 31.1 of the long arm chromosome 7 (7q31.1). More than 2000 variants have been described so far. R334W variant associated with mild disease course. Objective. To perform comprehensive assessment health status, functional activity, efficacy modulators in twins F508del/R334W genotype. Materials methods. Data from medical records, intestina...

PURPOSE To characterize the clinical features of a Chinese pedigree with Blau syndrome and to identify mutations in the NOD2/CARD15 (nucleotide-binding oligomerization domain containing 2/caspase recruitment domain family, member 15) gene. METHODS Clinical features of this family were evaluated. Genomic DNA was obtained from blood samples, and all exons of NOD2/CARD15 were amplified by polyme...

cystic fibrosis (cf) is the most common severe autosomal recessive disorder caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (cftr) protein. the frequencies, types and distributions of mutations vary widely between different populations and ethnic groups. the aim of this study was to perform a comprehensive analysis of the c...

We carried out a molecular analysis of 350 chromosomes from 55 families originating from the South of Spain (Andalucia) who were diagnosed with cystic fibrosis (CF). We used polymerase chain reaction, followed by an oligonucleotide ligation assay (OLA) and sequence-coded separation using capillary electrophoresis. A frequency of 43.5% for DeltaF508 was found, making it the most common CF mutati...

Introduction Blau syndrome (BS) is a rare autosomal dominant, autoinflammatory syndrome characterized by the clinical triad of granulomatous, recurrent uveitis, dermatitis and symmetric arthritis. Arthritis is usually a polyarticular exuberant synovitis and tenosynovitis and represents the characteristic phenotypic feature. Uveitis occurs in most patients and commonly evolves to a panuveitis. I...

We conducted clinical and genetic analyses of 52 cystic fibrosis (CF) patients in Uruguay, which is about half of the known affected individuals in the country. A relatively high proportion had a mild presentation, characterized by pancreatic sufficiency (28%), a strong pulmonary component (97%), and borderline sweat electrolyte measurements (25%). Mutational analysis of CF chromosomes demonstr...

Methods Retrospective chart review of the demographic, clinical, diagnostic and genetic characteristics were studied. Results Over seven years, 12 of 1214 new cases seen in the Pediatric Rheumatology Clinic (1%) (M: F = 1:1), were diagnosed as Sarcoidosis. 11/12(91.7%) had an onset ≤4 years of age, 8/12(67%) maintained a cumulative followup of 33.7 years ( range 1-9 years). 7/12(58.3%) had rece...