PABPN1 gene therapy for oculopharyngeal muscular dystrophy.

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disorder characterized by ptosis, swallowing difficulties, proximal limb weakness and nuclear aggregates in skeletal muscles. OPMD is caused by a trinucleotide repeat expansion in the PABPN1 gene that results in an N-terminal expanded polyalanine tract in polyA-binding protein nuclear 1 (PABPN1). Here we show that the treatment of a mouse model of OPMD with an adeno-associated virus-based gene therapy combining complete knockdown of endogenous PABPN1 and its replacement by a wild-type PABPN1 substantially reduces the amount of insoluble aggregates, decreases muscle fibrosis, reverts muscle strength to the level of healthy muscles and normalizes the muscle transcriptome. The efficacy of the combined treatment is further confirmed in cells derived from OPMD patients. These results pave the way towards a gene replacement approach for OPMD treatment.

Generalized aggressive periodontitis in prepubertal age: description and comparison of two cases.

Aggressive periodontitis is a rare form of periodontal disease and it can involve both the deciduous dentition and the permanent one. It causes a rapid loss of periodontal attachment. The paper aims to describe two cases of severe generalized prepubertal periodontitis: the first child doesn't suffer from neither systemic diseases nor alteration of functionality of polymorphonuclear and periodontal disease involved both his deciduous dentition and the first permanent molars. The second child had a deficiency of functionality of polymorphonuclear but periodontal disease involved only primary dentition thanks to his immediate improvement of home dental hygiene. This comparison shows the importance of early diagnosis and especially of optimal dental oral hygiene. Infant healthcare professionals, as pediatric dentists and pediatricians, should have the necessary knowledge for early and correct diagnosis and clinical management of disease.

Caries prevention during pregnancy: results of a 30-month study.

The purpose of this 30-month study was to explore the effectiveness of a caries-preventive regimen in lowering the salivary mutans streptococci level in pregnant women and, subsequently, in inhibiting the growth of these bacteria in their young children. Beginning at the end of the sixth month of pregnancy and continuing until delivery, subjects rinsed daily with 0.05 percent sodium fluoride and 0.12 percent chlorhexidine. The authors monitored the salivary mutans streptococci levels during the last six months of pregnancy and every six months thereafter for 24 months. They also measured bacterial levels in the children every six months until they reached age 24 months. The results show that treatment significantly reduced salivary mutans streptococci levels in mothers and delayed the colonization of bacteria in their children for about four months.

The effect of biannual applications of amine fluoride solution on caries incidence in permanent first molars: a 5-year study.

A randomized double-blind clinical trial was undertaken in a non-fluoridated community to assess the effectiveness of a minimal preventive intervention based on biannual applications of an amine fluoride (AmF) solution containing 1% fluoride. A total of 284 schoolchildren aged 6 years were recruited from a primary school in Milan, Italy, and randomly assigned to an experimental or a control group. The subjects of the experimental group received two applications each year of AmF to the permanent first molars and the control group subjects received similar applications of a placebo solution. Both in the experimental and control groups caries experience (DMFT) of the first molars was recorded every 6 months for 5 years. The mean DMFT scores in the experimental and control group were, respectively, 0.56 and 0.22 at the beginning and 1.14 and 1.75 at the end of the study. The preventive effect of the treatment became statistically significant only after 3 years. Survival analysis performed on the first molars that were sound at baseline showed that the topical AmF treatment caused, after 5 years, a significant reduction of caries incidence. This result confirms observations found in the international literature on the anticaries action of AmF. The administration rate used in this study seems to be useful for community preventive applications as it reduces the total amount of fluoride administered and the potential risks, and involves few personnel.

Oral administration of fluoride in pregnant women, and the relation between concentration in maternal plasma and in amniotic fluid.

The aim was to measure the ionic fluoride concentration in maternal plasma and in amniotic fluid after oral administration of different doses of sodium fluoride (NaF) to 121 pregnant women. They were divided into six groups, according to the dose administered; 0 for the control group and 0.25, 0.50, 0.75, 1.00 or 1.25 mg of F- for the others. The subjects were instructed to take the corresponding NaF dose both 24 and 3 h before amniocentesis. Amniotic fluid (5 ml) and venous blood (5 ml) were obtained from each subject. Ionic fluoride concentration was measured with an expanded-scale potentiometer and a selective fluoride electrode. The results showed that F- concentration in amniotic fluid and, presumably, in fetal circulation, was not significantly different in groups taking 0.25, 0.50, 0.75 or 1.00 mg/day of F-. The F- concentration in amniotic fluid of the 1.25 mg/day group was, however, significantly higher than in all the other groups.

[Nutrition and health (not only dental)]. / Alimentazione e salute (non soltanto) dentale.

A correct alimentary education is a very important way to keep oneself in good health. From this statement, the Authors briefly illustrate the characteristics of a balanced diet and the effects of wrong nutritional habits, which are related to the most common oral diseases, dental caries in particular.

[Prevalence of Streptococcus mutans in a school group]. / Prevalenza di Streptococcus mutans in un campione di popolazione scolastica.

In the present study, S. mutans colony morphotypes has been investigated in salivary specimens obtained from 67 schoolchildren. Prevalence of these bacteria has been matched with DMFS in order to obtain information on cariogenicity of single morphotypes. Our data seems to suggest a correlation between total count of S. mutans colonies and caries experience, with major evidence for two colony morphotypes.

[Fluoridation of water in Europe. Review of the literature]. / La fluorizzazione delle acque in Europa. Revisione della letteratura.

The numerous studies proving that fluoride administration, mainly via fluoridated water, is undoubtedly the most reliable, efficient and economic technique for the prevention of dental decay are considered. However we should not underestimate the existence of a certain degree of distrust among the public or certain technical and bureaucratic problems which can interfere with the diffusion of this method. The experiments conducted in some countries where water fluoridation has been introduced are also reviewed.