Discovery and population genomics of structural variation in a songbird genus

Structural variation (SV) constitutes an important type of genetic mutations providing the raw material for evolution. Here, we uncover the genome-wide spectrum of intra- and interspecific SV segregating in natural populations of seven songbird species in the genus Corvus. Combining short-read (N = 127) and long-read re-sequencing (N = 31), as well as optical mapping (N = 16), we apply both assembly- and read mapping approaches to detect SV and characterize a total of 220,452 insertions, deletions and inversions. We exploit sampling across wide phylogenetic timescales to validate SV genotypes and assess the contribution of SV to evolutionary processes in an avian model of incipient speciation. We reveal an evolutionary young (~530,000 years) cis-acting 2.25-kb LTR retrotransposon insertion reducing expression of the NDP gene with consequences for premating isolation. Our results attest to the wealth and evolutionary significance of SV segregating in natural populations and highlight the need for reliable SV genotyping

Monitoring the quality of laboraties and the prevalence of resistance to antituberculosis drugs: Italy, 1998-2000

In 1998 a network of 20 regional tuberculosis (TB) laboratories (the Italian Multicentre Study on Resistance to Antituberculosis drugs (SMIRA) network) was established in Italy to implement proficiency testing and to monitor the prevalence of drug resistance nationwide. The network managed 30% of all TB cases reported in Italy each year. The aim of the present report is to describe: 1) the accuracy of drug-susceptibility testing in the network; 2) the prevalence of drug resistance for the period 1998-2000. Data were collected from the network laboratories. Sensitivity to streptomycin and ethambutol increased from the first survey (1998-1999) to the second survey (2000) from 87.7 to 91.9%. Specificity, predictive values for resistance and susceptibility, efficiency and reproducibility were consistent in both surveys. In previously untreated cases, the prevalence of multidrug-resistance was the same in both surveys (1.2%), while a slight decrease from the first to the second survey was observed for monoresistance to rifampicin (from 0.8 to 0.4%) and isoniazid (from 2.9 to 2%,). The significant association found between isoniazid resistance and immigration is a useful indicator for both clinicians managing individual tuberculosis cases and public health services planning control strategies

Nebulized tobramycin in patients with chronic respiratory infections during clinical evolution of Wegener's granulomatosis.

Aminoglycosides are effective against Pseudomonas aeruginosa but with intravenous administration there are only very low concentrations achieved in sputum; therefore in order to obtain therapeutic levels in patients with endobronchial infections should be administered high doses with increased likelihood to produce both nephrotoxic and ototoxic effects. Direct aerosol delivery of aminoglycosides to the lower respiratory tract has the advantage to achieve high antibiotic sputum concentrations in the infected area with reduced risk of systemic toxic reactions because of minimal absorption into the circulation. Nowadays, except for patients suffering from cystic fibrosis and bronchiectasis, the administration of antibiotics through inhalers is not very much in use. The aim of this study was to administer nebulized tobramycin in chronic respiratory infections developed during the evolution of Wegener's Granulomatosis in order to obtain data concerning the safety and efficacy of inhaled aminoglycosides. The results obtained underlined an improvement in FEV1, FEF75 and PaO2. The aerosolized tobramycin administered in 300 mg doses three times per day for four weeks, showed itself to be effective and safe, not causing any undesirable clinical or microbiological side-effects. Moreover, a long term treatment has been shown to control the Pseudomonas aeruginosa infection on the bronchial system in Wegener's granulomatosis and reduce the frequency of exacerbations in chronic patients

THE CYSTIC FIBROSIS GENE IS NOT LIKELY TO BE INVOLVED IN CHRONIC OBSTRUCTIVE PULMONARY DISEASE

4nonenoneGASPARINI P; SAVOIA A.; LUISETTI M; PEONA V; PIGNATTI PFGasparini, Paolo; Savoia, Anna; Luisetti, M; Peona, V; Pignatti, P

The cystic fibrosis gene is not likely to be involved in chronic obstructive pulmonary disease

The etiology of chronic obstructive pulmonary disease (COPD) is still unknown, and both genetic and environmental factors may play a role. Some clinical aspects of COPD occur similarly in cystic fibrosis (CF), particularly in adult patients. A DNA polymorphic marker in strong linkage disequilibrium with the CF locus has been used to check the hypothesis that mutations of this locus might be involved in COPD. Its allele frequencies have been found to be in equilibrium in COPD patients as well as in appropriate control subjects. The determinants possibly involved in genetic predisposition to COPD therefore do not seem to comprise CF gene mutations

Diagnosis of enigmatic chronic cough Neurovascular compression in a case of chronic cough progressively leading to compromised quality of life

Chronic cough is a clinical problem that can be linked to multiple disorders stemming from a variety of anatomical sites. Successful treatment depends on determination of the precise cause and initiation of specific therapy. Here we present the case history of a 33-year-old man with chronic cough due to multiple causes. Although the patient’s most common complaints were treated, cough persisted. Long-term clinical follow-up led to a definitive diagnosis of a cranial nerve dysfunction syndrome, and cough resolved after successful specific treatment

The cystic fibrosis gene is not likely to be involved in chronic obstructive pulmonary disease.

The etiology of chronic obstructive pulmonary disease (COPD) is still unknown, and both genetic and environmental factors may play a role. Some clinical aspects of COPD occur similarly in cystic fibrosis (CF), particularly in adult patients. A DNA polymorphic marker in strong linkage disequilibrium with the CF locus has been used to check the hypothesis that mutations of this locus might be involved in COPD. Its allele frequencies have been found to be in equilibrium in COPD patients as well as in appropriate control subjects. The determinants possibly involved in genetic predisposition to COPD therefore do not seem to comprise CF gene mutations

Diagnosis of enigmatic chronic cough Neurovascular compression in a case of chronic cough progressively leading to compromised quality of life

Chronic cough is a clinical problem that can be linked to multiple disorders stemming from a variety of anatomical sites. Successful treatment depends on determination of the precise cause and initiation of specific therapy. Here we present the case history of a 33-year-old man with chronic cough due to multiple causes. Although the patient’s most common complaints were treated, cough persisted. Long-term clinical follow-up led to a definitive diagnosis of a cranial nerve dysfunction syndrome, and cough resolved after successful specific treatment