[Primary ciliary dyskinesia: clinical and genetic aspects]. / Discinesia ciliare primitiva: aspetti clinici e genetici.

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disease, characterized by ciliary disfunction and impaired mucociliary clearance, resulting in a range of clinical manifestations such as chronic bronchitis, bronchiectasis, chronic rhino-sinusitis, chronic otitis media, situs viscerum inversus in almost 40-50% of cases and male infertility. The triad situs viscerum inversus, bronchiectasis and sinusitis is known as Kartagener syndrome. Up to now little is known about genetic, diagnostic and therapeutic aspects of primary motile ciliary diseases in children: for this reason, diagnosis is generally delayed and almost all treatments for PCD are not based on randomized studies but extrapolated from cystic fibrosis guidelines. The aim of this review is to propose to pediatricians a summary of current clinical and diagnostic evidence to obtain better knoledwge of this condition. The earlier diagnosis and the right treatment are both crucial to improve the prognosis of PCD.

Tuberculosis of the oral cavity: a systematic review.

The recent increase in the incidence of tuberculosis, combined with an emerging global resistance to antituberculous drugs, warrants an increased awareness of the involvement of Mycobacterium tuberculosis in persistent or atypical lesions in the oral cavity. We sought to review the published reports of mycobacterial infection of the oral cavity found in the literature in otherwise uncompromised patients, from 1950 to the present day, and analyzed the documented manifestations. M. tuberculosis infects all parts of the mouth (soft and hard palate, uvula, buccal mucosa, gingivae, lips, tongue, maxilla, and mandible) more often in men than in women, appearing predominantly in the form of ulcerative lesions. It was found as a secondary infection in 58% (54% pulmonary, 4% extrapulmonary) of patients and as a primary infection in 42% of patients. Carcinomas are found to co-exist in the same lesion site in 3% of patients. In approximately 50% of patients, an oral manifestation of TB has led to the diagnosis of a previously unknown systemic infection, which resulted in a timely and effective treatment. The investigation for tuberculosis should therefore be actively pursued in the dental surgery. Diagnostic work-up for systemic involvement and control of healthcare-associated spread is important, while therapeutic options are still considered adequate.

Observation of the suppression of the flux of cosmic rays above 4 x 10 (19) eV.

The energy spectrum of cosmic rays above 2.5 x 10;{18} eV, derived from 20,000 events recorded at the Pierre Auger Observatory, is described. The spectral index gamma of the particle flux, J proportional, variantE;{-gamma}, at energies between 4 x 10;{18} eV and 4 x 10;{19} eV is 2.69+/-0.02(stat)+/-0.06(syst), steepening to 4.2+/-0.4(stat)+/-0.06(syst) at higher energies. The hypothesis of a single power law is rejected with a significance greater than 6 standard deviations. The data are consistent with the prediction by Greisen and by Zatsepin and Kuz'min.

Upper limit on the diffuse flux of ultrahigh energy tau neutrinos from the Pierre Auger Observatory.

The surface detector array of the Pierre Auger Observatory is sensitive to Earth-skimming tau neutrinos that interact in Earth's crust. Tau leptons from nu(tau) charged-current interactions can emerge and decay in the atmosphere to produce a nearly horizontal shower with a significant electromagnetic component. The data collected between 1 January 2004 and 31 August 2007 are used to place an upper limit on the diffuse flux of nu(tau) at EeV energies. Assuming an E(nu)(-2) differential energy spectrum the limit set at 90% C.L. is E(nu)(2)dN(nu)(tau)/dE(nu)<1.3 x 10(-7) GeV cm(-2) s(-1) sr(-1) in the energy range 2 x 10(17) eV< E(nu)< 2 x 10(19) eV.

Correlation of the highest-energy cosmic rays with nearby extragalactic objects.

Using data collected at the Pierre Auger Observatory during the past 3.7 years, we demonstrated a correlation between the arrival directions of cosmic rays with energy above 6 x 10(19) electron volts and the positions of active galactic nuclei (AGN) lying within approximately 75 megaparsecs. We rejected the hypothesis of an isotropic distribution of these cosmic rays with at least a 99% confidence level from a prescribed a priori test. The correlation we observed is compatible with the hypothesis that the highest-energy particles originate from nearby extragalactic sources whose flux has not been substantially reduced by interaction with the cosmic background radiation. AGN or objects having a similar spatial distribution are possible sources.