Cornelia de Lange syndrome: description of the orofacial features and case report.

Cornelia de Lange Syndrome (CdLS) is a very rare syndrome characterised by multiple congenital anomaly affecting various organs and severe mental retardation. Incidence has been reported to be 1: 10.000-20.000 among the general population, with no racial predilection. The aetiology is still unknown but researchers, in 2004, discovered a mutation of the NIPBL gene located on chromosome 5 which is considered to be responsible of the disease. The main clinical features of the syndrome regard distinctive facial features, severe growth retardation, developmental and mental delay, hirsutism, structural limb abnormalities. The authors describe the main features of the syndrome focusing on oral and facial malformations and report a case of a three years old patient with CdLS.

Two cases of familial hypomagnesemia with hypercalciuria and nephrocalcinosis: dental findings.

BACKGROUND: The authors describe dental and periodontal conditions of two Chinese sisters affected by familial hypomagnesemia with hypercalciuria and nefrocalcinosis (FHHNC). FHHNC is a rare syndrome, genetically investigated since 1999, transmitted as an autosomal recessive disease. It is related to a mutation of PCN-1 gene which encodes for a tight junction protein named paracellin. CASE REPORT: Oral examination of two Chinese patients showed marked enamel hypoplasia, acute gingivitis and periodontal bone loss and severe malocclusion. The literature does not report previous investigations about the dental conditions of FHHNC patients. The syndrome is not definitely described from the clinical point of view. CONCLUSION: Further researches are necessary to understand the linkage between bone loss and enamel structure anomalies in FHHNC and to discover the relationships between nefrocalcinosis, hypomagnesemia, hypercalciuria and amelogenesis imperfecta.

Pain and anxiety control in Down syndrome.

The most recent pain and anxiety control techniques employed in patients with Down syndrome are described in relation to how cooperative the patient is and what assessment is made of his or her general condition. The growing deinstitutionalization of these patients and the growing social opportunities for them are matched by an increasing demand for dental treatment. Down syndrome is thus one of the disabilities with which the dentist is most likely to come into contact in his own surgery. Pain control is one of the keys to building the relationship between physician and patient and obtaining patient compliance in the conviction that only regular controls can maintain the oral health of these patients. A local anaesthetic, combined when possible with psychological techniques, remains the approach of choice and only a level of compliance that is really wanting or the need to carry out numerous operations in a single session should lead the dentist to choose conscious sedation or a general anaesthetic. The choice of technique, however, should take into account any systemic disease present, such as congenital heart and neurological diseases, bearing in mind that conscious or deep sedation and general anaesthesia should only be adopted in a hospital environment and require the presence of an anaesthesiologist.

[The CO2 laser and endodontic surgery: an epicritical evaluation]. / Laser CO2 e chirurgia endodontica: valutazione epicritica.

The authors analyse the use of laser CO2 in endodontic surgery. They describe the laser biological effects on teeth, comprehending immediate structural changes (coagulation, carbonization, volatilization, fusion of dental tissue), and side effects (sterilization, modification of biomechanical properties and biostimulation). A surgical technique joining traditional aspects and laser radiation, restoring the apical shape to the anatomical origin is described. The employment of the laser in a defocalized way allows the sterilization of the apical region even in zones normally not reachable by the usual instruments. These devices are connected with laser irradiation and could improve the clinical results either improving bone restoration on raising dental tissue resistance to acidity. The authors emphasize that, whereas the clinical follow-up is in fact similar to the results obtained in a previous traditionally treated control group an accurate surgical technique will be the real important aspect to reach the recovery and the laser irradiation can help in it.

Proliferative response of human marginal gingiva to phlogistic process and titanium implant.

In order to detect proliferative processes in human marginal gingiva in pathological conditions and after externalization of titanium implants, we have attempted BrdU incorporation after "in vitro" incubation of tissue fragments. In comparison with healthy controls, immunocytochemical detection of samples from patients affected by hypertrophic gengivitis shows a good number of proliferating cells in the basal layer of the epithelium, while only in one case can positiveness be detected after externalization of titanium implants. Since after reduction of inflammation by hygienic treatment a low number of proliferating cells can be observed only in the regions where pathological alterations are also present, we suggest that the increase in tissue proliferation may be closely dependent on the intensity of the inflammatory process. All these data demonstrate that in vitro BrdU incubation of tissue fragments represents a suitable method to evaluate cell proliferation in human tissue.