Comparative efficacy of analgesic gel phonophoresis and ultrasound in the treatment of temporomandibular joint disorders.

AIM: The aim of this study is to determine the efficacy of phonophoresis in patients with temporomandibular disorders. OBJECTIVE: To prove that phonophoresis could be an effective treatment modality in in patients with temporomandibular disorders. PROCEDURE: Fifty patients diagnosed clinically and radiographically as temporomandibular disorder were randomly assigned into either of the two groups, namely, (Group A) plain ultrasound and (Group B) phonophoresis. Acoustic gel containing no pharmacological agent was applied in the ultrasound group, whereas a gel containing aceclofenac was applied in the phonophoresis group. Each group was treated three times a week for 2 weeks. The assessment of pain and inflammation both before and after treatment were done using the visual analog scale (VAS) and Creactive protein (CRP). RESULTS: Intergroup comparison was done and analyzed statistically using independent ttest. Intragroup comparison was done using paired ttest. A significant difference in VAS scores and CRP levels before and after treatment were seen within both ultrasound phonophoresis PH groups. No significant difference was noted statistically between ultrasound and phonophoresis group. CONCLUSION: The results of this study suggests that though plain ultrasound as well as phonophoresis with aceclofenac gel are effective in the management of temporomandibular disorders. Phonophoresis was found be slightly superior as evident in VAS scores and CRP levels though not statistically significant.

A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome.

OBJECTIVE: Kohlschutter-tonz syndrome (KTS) is a rare neurodegenerative disorder that presents with seizures, developmental regression, characteristic hypoplastic dental enamel indicative of amelogenesis imperfecta and dysmorphologies. Genetic analysis has identified loss-of-function mutations within the coding region of the ROGDI gene in KTS patients of European or Jewish decent. In the present study, we have investigated the genetic status of ROGDI in a fourteen year old South Indian patient of Dravidian race born to consanguineous parents, who was clinically diagnosed with KTS STUDY DESIGN: To confirm the clinical diagnosis of KTS in the patient, primers were designed flanking each of the 11 exons of the ROGDI gene. We then used 50 nanograms of chromosomal DNA extracted from peripheral blood of the patient and his parents to amplify with above primers. The PCR amplicons were then subjected to direct sequencing with same set of primers. RESULTS: Genetic analysis identified a novel homozygous nonsense mutation in exon 6 of the ROGDI gene; the mutation caused premature termination of ROGDI translation, resulting in truncation and loss of function of the ROGDI protein. CONCLUSIONS: Taken together, the clinical presentation and loss-of-function mutation in the ROGDI gene confirms the clinical diagnosis of KTS.

Heterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of cathepsin C are associated with Haim-Munk syndrome.

OBJECTIVE: In the present study, we have investigated the genetic status of CTSC gene in a HMS subject, who along with her parents belonged to non-Jewish South Indian Dravidian community. MATERIALS AND METHODS: Genomic deoxyribonucleic acid isolated from the peripheral blood of the subject was amplified with CTSC exon specific primers and were analyzed by direct sequencing. RESULTS: Sequencing analysis identified Ile453Val mutation within exon 7 of CTSC gene in heterozygous condition, and two single nucleotide polymorphisms (SNPs) within intron 2 and 5 in homozygous condition. CONCLUSION: The present study has identified for the first time the association of Ile453Val mutation within exon 7 and the two SNPs in a subject with HMS.