Development of a regional database for studying epidemiology of maxillofacial trauma.

This article discusses the development of the first regional computerized database for the epidemiological evaluation of maxillofacial trauma and tests its usefulness by evaluating the appropriateness and completeness of the resulting information.The database was developed using Microsoft Access, implemented using Visual Basic. Data were entered in the database by 4 different maxillofacial specialists, one from each of the 4 main regional hospitals where maxillofacial trauma is treated. Clinical information was taken from 100 complete records of patients hospitalized for maxillofacial fractures at the Maxillofacial Division of San Giovanni Battista Hospital in Turin from January to June 2009.Thirteen database fields were used: general information, cause and mechanism of injury, fracture site, Facial Injury Severity Scale, head and neck examination, associated injuries, timing and type of surgery, and days of hospitalization.Overall, the data entered were 99.45% complete and 99.5% accurate. Thus, our regional maxillofacial database can be considered complete and accurate. Some of the errors, mainly in the fields "fracture site" and "Facial Injury Severity Scale," were attributable to an incorrect interpretation of facial fracture diagnoses, based on the medical records that were provided.

Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.

Identifying the genetic variants that regulate fasting glucose concentrations may further our understanding of the pathogenesis of diabetes. We therefore investigated the association of fasting glucose levels with SNPs in 2 genome-wide scans including a total of 5,088 nondiabetic individuals from Finland and Sardinia. We found a significant association between the SNP rs563694 and fasting glucose concentrations (P = 3.5 x 10(-7)). This association was further investigated in an additional 18,436 nondiabetic individuals of mixed European descent from 7 different studies. The combined P value for association in these follow-up samples was 6.9 x 10(-26), and combining results from all studies resulted in an overall P value for association of 6.4 x 10(-33). Across these studies, fasting glucose concentrations increased 0.01-0.16 mM with each copy of the major allele, accounting for approximately 1% of the total variation in fasting glucose. The rs563694 SNP is located between the genes glucose-6-phosphatase catalytic subunit 2 (G6PC2) and ATP-binding cassette, subfamily B (MDR/TAP), member 11 (ABCB11). Our results in combination with data reported in the literature suggest that G6PC2, a glucose-6-phosphatase almost exclusively expressed in pancreatic islet cells, may underlie variation in fasting glucose, though it is possible that ABCB11, which is expressed primarily in liver, may also contribute to such variation.

IRAK-M is involved in the pathogenesis of early-onset persistent asthma.

Asthma is a multifactorial disease influenced by genetic and environmental factors. In the past decade, several loci and >100 genes have been found to be associated with the disease in at least one population. Among these loci, region 12q13-24 has been implicated in asthma etiology in multiple populations, suggesting that it harbors one or more asthma susceptibility genes. We performed linkage and association analyses by transmission/disequilibrium test and case-control analysis in the candidate region 12q13-24, using the Sardinian founder population, in which limited heterogeneity of pathogenetic alleles for monogenic and complex disorders as well as of environmental conditions should facilitate the study of multifactorial traits. We analyzed our cohort, using a cutoff age of 13 years at asthma onset, and detected significant linkage to a portion of 12q13-24. We identified IRAK-M as the gene contributing to the linkage and showed that it is associated with early-onset persistent asthma. We defined protective and predisposing SNP haplotypes and replicated associations in an outbred Italian population. Sequence analysis in patients found mutations, including inactivating lesions, in the IRAK-M coding region. Immunohistochemistry of lung biopsies showed that IRAK-M is highly expressed in epithelial cells. We report that IRAK-M is involved in the pathogenesis of early-onset persistent asthma. IRAK-M, a negative regulator of the Toll-like receptor/IL-1R pathways, is a master regulator of NF- kappa B and inflammation. Our data suggest a mechanistic link between hyperactivation of the innate immune system and chronic airway inflammation and indicate IRAK-M as a potential target for therapeutic intervention against asthma.

Telemedicine in maxillofacial trauma: a 2-year clinical experience.

PURPOSE: The authors report the 2-year experience of use of the PATATRAC telemedicine system in managing maxillofacial trauma. MATERIALS AND METHODS: Thirty-five regional hospitals on-line with PATATRAC in the period from January 2002-January 2004 have sent 18 consultations (11 men and 7 women) to the Maxillofacial Surgery Division of San Giovanni Battista Hospital in Turin for telemedicine evaluation of patients with maxillofacial trauma. RESULTS: Only 50% of the consultations (9 patients) sent via PATATRAC indicated maxillofacial treatment, and only one case resulted in immediate transfer. Of the remaining 8 transfers, 2 patients were transferred after treatment of associated lesions in the receiving hospital, and the other 6 patients were transferred as scheduled based on the availability of beds in the specialist center. CONCLUSIONS: The results obtained, despite the poor number of telemedicine maxillofacial consultations, have mainly proved the usefulness of PATATRAC in drastically reducing expensive and unnecessary transfers of maxillofacial patients, without indications for either immediate or deferred treatment, thus also avoiding discomfort to the patient with other injuries.

Growth-associated protein-43 immunoreactivity in human oral mucosa in dentate subjects, in edentulous patients and after implant-anchored rehabilitation.

OBJECTIVES: This study investigates expression of the neural growth-associated protein 43 (GAP-43) in the oral mucosa of (A) normal dentate subjects, (B) edentulous patients rehabilitated with conventional denture and (C) those rehabilitated with mandibular implant-retained overdentures (MIR-OVD), in the long term. This study evaluates morphological changes in the distribution and representation of sensory terminations and corpuscles in the alveolar mucosa under the action of different masticatory or prosthetic loads, in the three clinical groups. MATERIAL AND METHODS: GAP-43 immunoreactivity (-ir) was compared with the distribution of nerves fibres in the mucosa, as visualised using anti-protein gene product 9.5 (PGP 9.5), a general marker for peripheral nerves and terminals. RESULTS: GAP-43-ir was found to be highly expressed in the corium and submucosa in specimens from edentulous subjects wearing conventional denture and presenting a reduced number of PGP 9.5-ir nerves in the mucosa, but not in specimens from control subjects or patients wearing MIR-OVD, which on the contrary show a higher number of PGP 9.5-ir mucosal sensory fibres. CONCLUSION: As the mucosa under traditional denture has been shown to possess reduced innervation and the histological aspect of chronic overloading, these results may be considered indicative of a tentative induction to nerve re-growth in the under-innervated epithelium, or as a response to chronic inflammation. The detection of GAP-43-ir suggests that human oral mucosa presents signs of potential nerve plasticity also in the elderly, and that the type of rehabilitation and the condition of masticatory load transfer to the mucosa have important effects on the nerves underneath.