PubMed Health⌕ Search

Biomedical subjects

M Ganeshananthan

Publications and source records attributed to M Ganeshananthan.

5 recordsLinked to original sources
PubMed2000

Lung disease associated with the IVS8 5T allele of the CFTR gene.

Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane regulator (CFTR) gene. The 5T allele in intron 8 (IVS8) causes abnormal splicing in the CFTR gene, and is associated with lung disease when it occurs in cis with a missense mutation in the CFTR gene, R117H. However, the 5T variant alone has not been reported to cause lung disease. We describe two adult female patients with CF-like lung disease associated with the 5T allele. One patient's genotype is 5T-TG12-M470V/5T-TG12-M470V, and the other is DeltaF508/5T-TG12-M470V; full sequencing of the CFTR gene revealed no other mutation on the same allele as the 5T variant. The levels of full-length CFTR mRNA in respiratory epithelia were very low in these patients (11 and 6%, respectively, of total CFTR mRNA expression). Both patients had defective CFTR-mediated chloride conductance in the sweat ductal and/or acinar epithelia (sweat chloride, mmol/L, mean +/- SEM: 40.0 +/- 5.0 [n = 8 samples] and 80. 0 +/- 3.5 [n = 6 samples]) and airway epithelia (mV, mean +/- SEM CFTR-mediated Cl(-) conductance of 1.2 +/- 2.2 [n = 5 studies] and -6.75 +/- 8.1 [n = 4 studies]). These data suggest that the 5T polythymidine tract sequence on specific haplotype backgrounds (TG12 and M470V) may cause a low level of full-length functional CFTR protein and CF-like lung disease.

Age of Onset↗
PubMed1993

Nosocomial adenovirus infection: molecular epidemiology of an outbreak.

Nosocomial transmission of adenovirus type 3 associated with fatalities in infants has not been frequently reported. This report describes the nosocomial spread of adenovirus types 2 and 3 among infants with bronchopulmonary dysplasia in a chronic (transitional) care facility. The index case developed pneumonia with a clinical deterioration in respiratory status 8 days after admission. Within the next 10 to 30 days 9 other infants and 2 health care personnel became ill with respiratory symptoms. Three of these 10 infants had progressive respiratory failure and 2 of them died. All of these infants had underlying chronic lung disease of bronchopulmonary dysplasia. The overall attack rate was 30% (10 of 33). Further spread of adenovirus was prevented by using barrier precautions and masks while performing tracheostomy care. Adenovirus isolates were serotyped as Ad3 in 4 patients and 1 staff member, as Ad2 in 3 patients, and as a combination of Ad2 and Ad3 in 1 patient. Two fatalities were associated with Ad3 infection. Three isolates from 2 patients and 1 staff member were not available for typing. Restriction endonuclease analysis was performed on all of these isolates of Ad3 and Ad2. There was no genetic heterogeneity in the isolates, suggesting a common source.

Adenovirus Infections, Human↗
PubMed1986

Constipation presenting as respiratory distress.

This case report describes a 14-year-old boy presenting with a barrel-chested appearance and a complaint of shortness of breath on exertion. The patient had a long history of severe constipation with overflow incontinence. Physical examination suggested limited diaphragmatic excursion. Initial pulmonary function studies showed a restrictive pattern. Catharsis resulted in an 11-lb weight loss and normalization of pulmonary function. We speculate that the extrinsic upward pressure imposed on the diaphragm by a full bowel resulted in increased anteroposterior diameter, decreased lung height, and a reversible restrictive pattern on pulmonary function studies.

Acute Disease↗