Missense Variants Within GJB2 Gene Locus and the Risk of Hearing Defects in Nonsyndromic Cleft Lip and Palate.

AIM: The aim of the study was to investigate the role of variants in GJB2 gene in the etiology of hearing defects in nonsyndromic cleft lip/palate. METHOD: Saliva samples were obtained from cases (subjects with orofacial clefts) and control (subjects without orofacial clefts) who consented to the study. Deoxyribonucleic acid (DNA) was extracted using standardized protocol at Butali Lab (Iowa, IA). Primers for the coding region of GJB2 was designed using Primer 3 (http://bioinfo.ut.ee/primer3-0.4.0/) and optimized in the Butali lab using a gradient polymerase chain reaction to determine the annealing temperature for each primer set (forward and reverse). We measured the DNA concentration using Qubit and XY genotyping done for quality control. A concentration of 5 ng/µL of DNA was used for Sanger sequencing. RESULTS: A total of 150 subjects were sequenced (66 cases; 84 controls). Mutations in GJB2 gene were detected in 2 individuals with cleft palate. We found p.Arg165Trp variant in 1 case and p.Leu81Val variant in the second case. Although p.Arg165Trp was predicted to be either benign or tolerated by SIFT/POLYPHEN, the single nucleotide change from C>T, that is, CGG>TGG leads to a premature stop codon preventing the protein formation. The p.Leu81Val variant was predicted to be probably damaging/ deleterious. CONCLUSIONS: The present study implicates variants in the GJB2 gene in the etiology of hearing defects in nonsyndromic cleft lip and palate in the Nigerian population. Screening for variations in GJB2 gene is important for genetic counseling especially in high-risk families.

Buccal Fat Pad for Interpositional Arthroplasty in Temporomandibular Joint Ankylosis.

AIM: The buccal fat pad (BPF) is a readily accessible mass of adipose tissue in the oro-maxillofacial region. It is a specialized type of fat tissue that enhances intermuscular motion. It has been used extensively for reconstruction of oral cavity defects with satisfactory outcomes. However, its use as an interpositional material in the management of temporomandibular joint ankylosis is not widespread. This report aims to present our experience with its use as an interpositional tissue in the management of temporomandibular joint ankylosis. MATERIALS AND METHODS: A total of four patients who presented with either unilateral or bilateral temporomandibular joint ankylosis were included in this study. Three patients presented with bilateral temporomandibular joint ankylosis while one patient had right unilateral bony ankylosis of the temporomandibular joint. All the patients were treated under general anaesthesia during which airway was maintained intraoperatively using tracheostomy tubes. In all cases, interpositional arthroplasty using BPF as the interpositional material was done. RESULTS: There were two males and two females with age range between 4 and 24 years and a median age of 12.5 years. Trauma was the aetiological factor in all cases. There were a total of seven ankylosed joints. Autogenous pedicled BPF was used in five joints, while BPF graft was utilized in two joints. Maximal interincisal opening of 35 mm or more was achieved intraoperatively before placement of the BPF in all cases. Immediate postoperative jaw exercise was commenced. Mouth opening remained satisfactory at all postoperative reviews. CONCLUSION: Buccal fat pad is a reliable option for interpositional arthroplasty in the management of TMJ ankylosis, and it can be used either as a free graft or as a pedicled flap.

Buccal Fat Pad: A Useful Adjunct Flap in Cleft Palate Repair.

AIM: The aim of the study is to describe the technique and also the outcome of using buccal fat pad (BFP) as an adjunct flap in cleft palate repair and to report the surgical outcome. MATERIALS AND METHODS: All the surgical repairs with BFP were done under general anaesthesia. The use of BFP was indicated in patients who needed a secondary palatal cleft repair, those with wide palatal clefts or patients whose primary palatal cleft repair was complicated intraoperatively by inadvertent tearing of the nasal mucosa. The raw wound surfaces were dressed with Vaseline gauze instilled with Framycetin. All subjects 4 years of age and below had oral toileting with warm saline-soaked gauze after each meal. The other patients had oral toileting with warm saline mouth bath in addition to conventional toothbrushing. RESULTS: Eight patients were included in this study with an age range of 1-26 years (mean ± SD = 6.1 ± 8.6 years). Three patients presented with wide palatal clefts, another three presented with dehiscence after a primary repair which necessitated a secondary repair, while the remaining two patients had inadvertent iatrogenic tear of the nasal mucosa during the primary surgical repair. For the latter set of patients, repair was completed by the use of BFP as an adjunct at the same surgery. Post-operative evaluation was satisfactory in all cases, with healing of the flaps and complete epithelialization of the BFP in 1 month. All the patients experienced post-operative cheek swelling, signifying the post-operative oedema due to BFP harvest. However, this was usually resolved within 48 h. Healing was satisfactory with full epithelialization, and no complications were observed. CONCLUSIONS: Successful application of BFP as an adjunct flap in palatal cleft closure is demonstrated in these series. It is recommended that cleft surgeons add this technique to their armamentarium in difficult cases, especially in wide palatal cleft repair, secondary palatal cleft repair and in cases of inadvertent tearing of nasal mucosa during primary cleft palate repair.

Oral health-related quality of life following third molar surgery with or without application of ice pack therapy.

AIM: To evaluate the effect of ice pack therapy on oral health-related quality of life (OHRQoL) following third molar surgery. METHODS: All consecutive subjects who required surgical extraction of lower third molars and satisfied the inclusion criteria were randomly allocated into two groups. Subjects in group A were instructed to apply ice packs directly over the masseteric region on the operated side intermittently after third molar surgery. This first application was supervised in the clinic and was repeated at the 24-h postoperative review. Subjects in group A were further instructed to apply the ice pack when at home every one and a half hours on postoperative days 0 and 1 while he/she was awake as described. Group B subjects did not apply ice pack therapy. Facial swelling, pain, trismus, and quality of life (using Oral Health Impact Profile-14 (OHIP-14) instrument) were evaluated both preoperatively and postoperatively. Postoperative scores in both groups were compared. RESULTS: A significant increase in the mean total and subscale scores of OHIP-14 was found in both groups postoperatively when compared with preoperative value. Subjects who received ice pack therapy had a better quality of life than those who did not. Subjects whose postoperative QoL were affected were statistically significantly higher in group B than in group A at all postoperative evaluation points (P < 0.05). Statistically significant differences were also observed between the groups in the various subscales analyzed, with better quality of life seen among subjects in group A. CONCLUSIONS: Quality of life after third molar surgery was significantly better in subjects who had cryotherapy after third molar than those who did not have cryotherapy. Cryotherapy is a viable alternative or adjunct to other established modes of improving the quality of life of patients following surgical extraction of third molars.