Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.

The aim of this work was to identify the underlying genetic cause in a four-generation family segregating an unusual phenotype comprising a severe form of skeletal Class II malocclusion with gingival hyperplasia. SNP array identified a copy number gain on chromosome 1 (chr1); however, this chromosomal region did not segregate correctly in the extended family. Exome sequencing also failed to identify a candidate causative variant but highlighted co-segregating genetic markers on chr17 and chr19. Short- and long-read genome sequencing allowed us to pinpoint and characterize at nucleotide-level resolution a chromothripsis-like complex rearrangement (CR) inserted into the chr17 co-segregating region at the KCNJ2-SOX9 locus. The CR involved the gain of five different regions from chr1 that are shuffled, chained, and inserted as a single block (∼828 kb) at chr17q24.3. The inserted sequences contain craniofacial enhancers that are predicted to interact with KCNJ2/KCNJ16 through neo-topologically associating domain (TAD) formation to induce ectopic activation. Our findings suggest that the CR inserted at chr17q24.3 is the cause of the severe skeletal Class II malocclusion with gingival hyperplasia in this family and expands the panoply of phenotypes linked to variation at the KCNJ2-SOX9 locus. In addition, we highlight a previously overlooked potential role for misregulation of the KCNJ2/KCNJ16 genes in the pathomechanism of gingival hyperplasia associated with deletions and other rearrangements of the 17q24.2-q24.3 region (MIM 135400).

Zimmermann-Laband syndrome and infantile systemic hyalinosis: an enigma with two separate terms with overlapping features: a case report.

BACKGROUND: Zimmermann-Laband Syndrome (ZLS) and infantile systemic hyalinosis (ISH) are rare genetic disorders. They are characterized by various spectrum manifestations. In spite of other case reports, this case with features of both syndromes was reported by oral medicine specialists and oral and maxillofacial surgeons. CASE PRESENTATION: In this study, we reported an 18-months old female patient with gingival overgrowth. This phenomenon completely embedded all the erupted teeth. In this case, the presence of multiple papulonodular cutaneous lesions is a newly observed aspect that has rarely been reported in the existing literature. Gingival overgrowth was excised under general anesthesia. At six months of follow-up after surgery, mastication and breathing problems were improved. Aesthetic aspects were ameliorated in terms of gingival appearance. CONCLUSIONS: To date, due to the ambiguous presentations, both syndromes remain an enigma for specialists. A timely diagnosis could be crucial for prognosis and preventing severe further surcharge. Dentists could play an important role in the diagnosis of rare disorders.

The efficacy of teriparatide (Cinnopar®) on bone repair in mandibular fractures: A single blinded randomized clinical trial.

This study focused on the effects of teriparatide (CinnoPar) on healing and postoperative complications in mandibular bone fractures. In this single-blind randomized controlled trial, 30 patients with a mandibular fracture hospitalized for open reduction internal fixation were randomly assigned to the intervention (I) (n = 15) and control (C) (n = 15) groups. Both groups received daily acetaminophen and cephalexin for 1 week. For 1 month, Group I received daily subcutaneous teriparatide injections. The Radiographic Union Scale of the Mandible (RUSM) was used to assess mandibular bone fusion subjectively, and the Hounsfield unit (HU) was used to objectively assess radiodensity in a computed tomography (CT) scan. In both groups, the visual analog scale (VAS) score was used to assess postoperative complications such as pain, swelling, wound opening, pus secretion, and bitter taste. There was no significant difference in bone repair between the two groups in this study (P > 0.05). Teriparatide also had no effect on the postoperative complication rate in the control group (P > 0.05). Within the limitations of the study it seems that in mandibular fractures, teriparatide did not affect bone fusion or postoperative complications, so its use is not recommended for better bone fusion and fewer postoperative complications of mandibular fracture during the first month.

A non-classic form of McCune Albright syndrome with different presentations and review of the literatures.

BACKGROUND: McCune Albright syndrome (MAS) is a rare heterogeneous clinical syndrome without any predilection for ethnic group. Classic form includes triad of fibrous dysplasia, café au late spots and autonomous hyper function of one or more endocrine pathways. CASE REPORT: We report the case of an 18-year old girl with non-classic form of MAS .New aspect of this case report attributed to multiple sebaceous adenoma. CONCLUSION: The new finding of our case of MAS was not reported before. Periodic follow-up with different radiologic and laboratory tests should be considered after suspicion to MAS.

Comparison of Visual Analog Scale Scores in Pain Assessment during Pulpotomy using Different Injection Materials in Children Aged 6 to 8 and 8 to 10 Years.

AIM: Proper anesthesia and pain management during treatment are most important concerns in dentistry for people of all ages, especially children. This study compared the success rate of lidocaine block with articaine buccal infiltration during anesthesia of the primary mandibular second molars in children aged 6 to 8 and 8 to 10 years. MATERIALS AND METHODS: The present clinical trial was conducted on 40 children aged 6 to 8 and 8 to 10 years who were referred to the Department of Pediatrics of the Faculty of Dentistry at Shahid Sadoughi University of Medical Sciences in Yazd (Islamic Republic of Iran) and needed to be treated with pulpotomy on both primary mandibular second molars. The patients were randomly divided into two groups. At the first session, a group received articaine buccal infiltration and the other group experienced inferior alveolar nerve (IAN) block. At the next visit, this trend was reversed. Visual analog scale (VAS) was used to evaluate the pain during pulpotomy. RESULTS: Data were analyzed by Statistical Package for the Social Sciences (version 17) software using Mann-Whitney test. According to the results of this test, the pain during pulpotomy was significantly lower in the articaine group (p < 0.001). CONCLUSION: Articaine buccal infiltration can be employed for pulpotomy treatment in primary mandibular second molars. CLINICAL SIGNIFICANCE: This research will eliminate block injection of lidocaine in children and utilize infiltration of articaine for pulpotomy treatment of mandibular teeth, hence preventing lingual nerve damage and prolonging paresthesia of IAN, lip, and cheek bite due to IAN block anesthesia.

Aggressive Adenoid Cystic Carcinoma of Maxillary Sinus in a 43-Year-Old Male: Rare Case Report and Review of Literature.

Adenoid cystic carcinoma (ACC) is a rare malignant tumor, mostly involving the minor salivary glands. Herein, we present a case of ACC in a 43-year-old man with symptoms of dental abscess as the initial presentation of the tumor. In spiral computed tomography (CT) scan, soft tissue mass with the erosion of maxillary sinus wall on the right side of the alveolar ridge was evident. Histopathological examination of the excised tumor with immunohistochemical studies (C-kit, Vimentin, pan-cytokeratin, p53, p63, and ki67 positive reaction) confirmed grade 2 ACC in the maxillary sinus. The patient underwent hemimaxillectomy and right-neck dissection. Due to the extension of tumor cells excessively into the surrounding tissues and involvement of orbital bone, complete and total resection of the tumor with safe margins could not be done. After surgery, adjuvant radiotherapy was considered for the patient. At the end of treatment, the patient lost his eye vision. Seventeen months from initial diagnosis, he was still alive without lung or distant metastasis.

Three-dimensional printer-assisted reduction genioplasty; surgical guide fabrication.

Genioplasty is a common operation to enhance function and appearance of the chin, the most prominent part of the lower third of the face, which has major impact on character impressions and facial beauty. However, since transference of preconfigured accurate treatment plans to patients during operation is difficult, sometimes it can be challenging, especially for inexperienced surgeons. This article represents a simplified technique to perform reduction genioplasty by utilizing a customized genioplasty guide manufactured with three-dimensional printing technology. This approach is helpful to achieve more precise and safer outcomes with fewer complications.

Comparing the effects of chlorhexidine and persica on alveolar bone healing following tooth extraction in rats, a randomised controlled trial.

Chlorhexidine is broadly prescribed by clinicians for treating extraction socket wounds; however, studies have reported adverse effects for chlorhexidine. Persica, a herbal antibacterial agent, could be an alternative for chlorhexidine. The aim of this randomised controlled trial was to investigate the effects of persica and chlorhexidine on alveolar bone healing following tooth extraction in rats. Eighteen Wistar rats were randomly allocated to three study groups: 0.2% chlorhexidine, 10% persica and controls (tap water). The rats were mouth-rinsed for 14 days. On day 8, the mandibular right first molars of all the rats were extracted. On day 21, the rats were euthanized and histological slides of their extraction sockets were prepared. The amount of new bone formation and the number of inflammatory cells in the extraction socket for each rat were recorded. Data were analysed using linear regression and Mann-Whitney tests. There was no significant difference between the control group and the intervention groups in terms of new bone formation and inflammatory cell count. The mean new bone formation was significantly higher in the persica group than in the chlorhexidine group. There was a significant association between new bone formation and inflammatory cell count in the entire sample. In conclusion, there were no significant differences between rinsing with tap water and rinsing with 0.2% chlorhexidine and 10% persica in enhancing extraction socket wound healing in rats. Extraction socket wound healing in rats was better enhanced with 10% persica than 0.2% chlorhexidine.

Histologic evaluation of chitosan as an accelerator of bone regeneration in microdrilled rat tibias.

BACKGROUND: Chitosan compounds have been shown to be suitable bone replacement materials. To evaluate the accelerating effects of chitosan on the bone regeneration process and assessing its histopathological adverse effects, we conducted this study on rat tibias. MATERIALS AND METHODS: In a laboratory experimental study, micro-drilled bone defects were created in the upper tibia of each leg in 15 adult male rats. The defect in the right leg, filled by the chitosan powder, was compared with the untreated defect in the left leg in each rat at 1, 2, and 4 weeks after surgery. Bone repair and inflammation in each specimen was blindly graded by a pathologist. Reaction to the foreign body and the amount of the remaining chitosan were studied in chitosan-treated specimens at the three stages of the study. RESULTS: Bone repair was significantly faster in the chitosan group, 1 week (P = 0.01) and 4 weeks (P = 0.038) after surgery, while the difference was not significant at the 2-week stage (P = 0.197) between chitosan and control groups. Chitosan-induced inflammation was not significant in any stage of the study. Reaction to the foreign body was seen in one case at 2 weeks and one case at 4 weeks postoperation. CONCLUSION: Chitosan significantly accelerated the bone regeneration process in rat tibias. Regarding its biocompatibility and osteoinductivity, it can be studied as a biomaterial in human bone healing.

Comparison of mast cells count in oral reactive lesions.

The purposes of this study were a comparison of mast cells (MCs) count in oral soft-tissue reactive lesions showing different degrees of fibrosis, and also an evaluation of the correlation of mast cells counting with the score of inflammation. In this cross-sectional study, 40 samples, including irritation fibroma (IF), inflammatory fibrous hyperplasia (IFH), peripheral giant cell granuloma (PGCG), and peripheral ossifying fibroma (POF) categories (10 for each), were selected. Five normal gingival tissues were considered as the control group. The number of MCs was counted in 5 HPF containing maximum counts for each deparaffinized section stained with toluidine blue. The degree of inflammation was also evaluated for each case. The data were analyzed statistically, and P values <0.05 were considered as significant. The numbers of MCs were found to be increased in reactive lesions compared to normal gingival tissues (P value <0.05). MC counts were significantly decreased in the PGCG group compared to the IFH and POF groups (P value <0.05). A significant correlation was obtained between inflammation score and MC count in the IF and PGCG groups. (P value <0.05) The findings of this study suggest that MCs may play some role in collagen synthesis and consequently in the variation of microscopic features of oral soft-tissue reactive lesions.

Prevalence of traumatic injuries to maxillary permanent teeth in 9- to 14-year-old school children in Yazd, Iran.

AIM: Trauma to maxillary anterior teeth is a common reason for emergency room visits among children; therefore, the goal of this study was to evaluate the prevalence and related factors of such trauma among 9- to 14-year-old children in Yazd. MATERIALS AND METHODS: A sample of 1440 schoolchildren aged 9-14 years old, consisting of 720 boys and 720 girls, were randomly selected from 24 schools in Yazd. Ellis classification was used to record the dental injuries. RESULTS: The prevalence found was 27.56%. The occurrence of trauma was significantly higher in male patients; furthermore, most of the dental trauma occurred in children between 9 and 10 years of age (47.38%). The most common type of injury was the 'enamel only' fracture; falls being the main cause of trauma. The most affected tooth was the maxillary central incisor. CONCLUSIONS: The prevalence and most common causal factor of traumatic injuries to the maxillary anterior teeth in schoolchildren living in Yazd was approximately the same as that found in other countries.