1/5. Genetic characterization of fluoroquinolone-resistant streptococcus pneumoniae strains isolated during ciprofloxacin therapy from a patient with bronchiectasis.Five spain(9V-3) streptococcus pneumoniae strains were isolated from a patient with bronchiectasis who had received long-term ciprofloxacin therapy. One ciprofloxacin-susceptible strain was isolated before treatment, and four ciprofloxacin-resistant strains were isolated during treatment. The resistant strains were derived from the susceptible strain either by a parC mutation (low-level resistance) or by parC and gyrA mutations (high-level resistance). This study shows that ciprofloxacin therapy in a patient colonized by susceptible S. pneumoniae may select fluoroquinolone-resistant mutants.- - - - - - - - - - ranking = 1keywords = mutation (Clic here for more details about this article) |
2/5. Cystic fibrosis diagnosed in an elderly man.Although most patients with cystic fibrosis (CF) are diagnosed in early childhood, the diagnosis may be delayed for patients with mild symptoms or single-organ disease. We describe a man with known infertility and a history of productive cough diagnosed with CF at 61 years of age. The patient carries two mutations and one variant in the CF transmembrane conductance regulator gene: 394delTT, P99L and R75Q. During a 15-year follow-up time he has developed significant pulmonary disease.- - - - - - - - - - ranking = 0.5keywords = mutation (Clic here for more details about this article) |
3/5. Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.Cystic fibrosis (CF) is inherited as an autosomal recessive trait, and the mutations in cystic fibrosis transmembrane conductance regulator (CFTR) gene contributes to the CF syndrome. Although CF is common in Caucasians, it is known to be rare in Asians. Recently, we experienced two cases of CF in Korean children. The patients were girls with chronic productive cough since early infancy. Chest computed tomography showed the diffuse bronchiectasis in both lungs, and their diagnosis was confirmed by the repeated analysis of a quantitative pilocarpine iontophoresis test (QPIT). The sweat chloride concentrations of the first patient were 108.1 mM/L and 96.7 mM/L. The genetic analysis revealed that she was the compound heterozygote of Q1291X and IVS8 T5-M470V. In the second case, the sweat chloride concentrations were 95.0 mM/L and 77.5 mM/L. Although we performed a comprehensive search for the coding regions and exon-intron splicing junctions of CFTR gene, no obvious disease-related mutations were detected in the second case. To our knowledge, this is the first report of CF in Korean children identified by a QPIT and genetic analysis. The possibility of CF should be suspected in those patients with chronic respiratory symptoms even in korea.- - - - - - - - - - ranking = 1keywords = mutation (Clic here for more details about this article) |
4/5. association of HLA class I antigen deficiency related to a TAP2 gene mutation with familial bronchiectasis.Two siblings with pansinusitis, nasal polyps, and bronchiectasis were found to have histocompatibility lymphocyte antigen (HLA) class I antigen deficiency ("bare lymphocyte syndrome") and dysfunction of natural killer cells. Reduced class I cell surface expression resulted from a single mutation in the TAP2 gene, which is located in the class II region of the major histocompatibility complex and encodes subunit 2 of the class I peptide transporter. The defect was transmitted in an autosomal recessive manner. This deficiency did not lead to severe viral infections but was apparently associated with susceptibility to bacterial infections of the respiratory mucosae. We suggest that class I HLA typing should be systematically performed in children with unexplained bronchiectasis.- - - - - - - - - - ranking = 2.5keywords = mutation (Clic here for more details about this article) |
5/5. Cystic fibrosis 3849 10kb C > T mutation associated with severe pulmonary disease and male fertility.A 40-yr-old Hispanic man presented to NJCIRM with end-stage lung disease. Evaluation of this patient 10 yr earlier noted bronchiectasis, normal sweat electrolytes, pancreatic sufficiency, delayed progression of pulmonary disease, and a sperm biopsy consistent with fertility. At the time of admission bronchiectasis was extensive. dna testing demonstrated homozygosity for the 3849 10kb C > T cystic fibrosis (CF) allele. This is the first description of homozygous expression of this allele in a male patient. Confirmation of fertility was established by demonstrating that his children were carriers of this allele. This patient emphasizes the importance of dna testing for atypical CF alleles in patients with bronchiectasis of undetermined cause even in the presence of fertility, normal pancreatic function, and normal sweat electrolytes.- - - - - - - - - - ranking = 2keywords = mutation (Clic here for more details about this article) |