Association between oral cleft and transcobalamin 2 polymorphism in a sample study from Nassiriya, Iraq.

Orofacial clefts are common congenital defects whose prevalence differs between geographical regions and ethnic groups. The inheritance is complex, involving the contribution of both genetic and environmental factors. The involvement of genes belonging to the folate pathway is still matter of debate, with strong evidences of association and conflicting results. After demonstrating the contribution, for a sample from the Italian population, of common mutations mapping on three genes of the folate pathway, our group tried to unravel their contribution in independent sample studies with different ethnicity. In the present investigation a set of 34 triads with oral cleft from Nassiriya, Iraq, has been genotyped for rs1801133 of MTHFR, rs1801198 of TCN2, and rs4920037 of CBS polymorphisms. Association analysis evidenced a decreased risk of cleft for children carrying the 667G allele at TCN2 gene (P = 0.02). This evidence further supported the relationship between polymorphisms of folate related genes and oral clefts, and outlined the relevance of studying populations having different ethnicity.

Non-syndromic cleft palate: Association analysis on three gene polymorphisms of the folate pathway in Asian and Italian populations.

Periconceptional folic acid supplementation can reduce the risk of inborn malformations, including orofacial clefts. Polymorphisms of MTHFR, TCN2, and CBS folate-related genes seem to modulate the risk of cleft lip with or without cleft palate (CL/P) in some populations. CL/P and cleft palate only (CPO) are different malformations that share several features and possibly etiological causes. In the present investigation, we conducted a family-based, candidate gene association study of non-syndromic CPO. Three single nucleotide polymorphisms, namely, rs1801133 of MTHFR, rs1801198 of TCN2, and rs4920037 of CBS, were investigated in a sample that included 129 Italian and 65 Asian families. No evidence of association between the three genotyped polymorphisms and CPO was found in the Italian and Asian cases, indeed the transmission disequilibrium test did not detect any asymmetry of transmission of alleles. This investigation, although with some limitation, further supports that CL/P and CPO diverge in their genetic background.

Otogenic temporomandibular septic arthritis in a child: a case report and a review of the literature.

BACKGROUND: Acute otitis media is one of the most common infectious diseases in the paediatric age and although its complications such as acute mastoiditis have become rare thanks to improvements in therapeutic approaches, possible serious complications such as septic arthritis of the temporomandibular joint may develop. A prompt diagnosis and adequate treatment are essential to achieving the best outcome and avoiding serious sequelae. We describe a case occurring in a previously healthy 6-year-old female and review the literature currently available on this topic. CASE PRESENTATION: The patient presented a right temporomandibular septic arthritis with initial mandibular bone involvement secondary to acute otitis media. She presented with torcicollis, trismus, right preauricular swelling over the temporomandibular joint and was successfully treated with antibiotic treatment alone. CONCLUSIONS: Septic arthritis of the temporomandibular joint is a rare complication of acute otitis media or acute mastoiditis in children. It should be suspected in patients presenting with trismus, preauricular swelling or fever. No guidelines on the diagnosis and treatment of this infectious disease are currently available.

Prompt clinical and biochemical response to denosumab in a young adult patient with craniofacial fibrous dysplasia.

BACKGROUND: We report on the clinical and biochemical outcomes in a 20-year-old male suffering from active craniofacial monostotic fibrous dysplasia (MFD) of the left mandible treated with the RANK-L inhibitor, denosumab, following unsatisfactory responses to prior long-term bisphosphonates therapy. RESULTS: The patient had been treated over 9 years with pamidronate (cumulative dose of 810 mg) with incomplete control of pain. Following initiation of denosumab 60 mg subcutaneously, bone pain and bone turnover markers (osteocalcin, total and bone alkaline phosphatase and carboxy-terminal cross-linking telopeptide of type I collagen) were monitored over a 27 months period. Few hours after the first administration, the patient demonstrated a complete pain disappearance and after 4 weeks bone turnover markers fell within the normal range. Three months after denosumab initiation the patient reported a pain reactivation that required a second administration, which again led to the pain disappearance. Subsequently, denosumab was administered according to the pain reappearance and the injection was always followed by complete pain relief. However, a gradual shortening of the pain-free interval between administrations was observed, ranging from 90 to 75 days. All bone turnover markers stayed in the lower half of the normal range, even at the moment of pain reappearance, suggesting that the effect of denosumab on pain depends on mechanisms other than bone resorption suppression. No side effects were reported by the patient during the follow-up. CONCLUSION: Denosumab appears to be effective in reducing bone turnover and bone pain in adult patients with active MFD.