Osteo-odonto-keratoprosthesis According to Strampelli Original Technique: A Retrospective Study With Up to 30 Years of Follow-up.

PURPOSE: To describe clinical, anatomical, and visual outcomes obtained from a long-term follow-up of 59 patients who underwent osteo-odonto-keratoprosthesis (OOKP) using the Strampelli original technique. DESIGN: Retrospective clinical cohort study. METHODS: The study included 82 eyes of 59 patients who underwent OOKP surgery between 1969 and 2011. Patients' clinical characteristics before surgery as well as complications and further surgeries until the end of follow-up were recorded. Best-corrected visual acuity (BCVA) was revised before surgery and at 1 month, 1 year, and every 5 years until the 30th year of follow-up. RESULTS: Mean follow-up post-OOKP was 27.4 ± 11.2 years (range, 2.4-52). The most frequent cause of blindness was chemical injuries (71%). OOKP integrity was maintained in 77 of 82 eyes (94%) until the end of follow-up. Excluding cataract, acquired glaucoma was the most frequent complication, with a prevalence at 10 years of 36%. Mean BCVA improved from 2.60 ± 0.32 at presentation to 0.40 ± 0.65 at 1 year and 1.21 ± 1.19 logMAR at 30 years. Overall, 51% of the included eyes attained a BCVA better than 0.05 logMAR, and stabilization of BCVA was observed for the first 10 years of follow-up post-OOKP. Better BCVA outcomes were observed in the Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN) group, whereas glaucoma was found not to significantly affect visual acuity. CONCLUSIONS: The original OOKP still represents a valid surgical choice, which is durable over time, for restoring vision in end-stage corneal blindness patients who are not eligible for a corneal transplant.

Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.

Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder of craniofacial morphogenesis. Its etiology is unclear, but assumed to be complex and heterogeneous, with contribution of both genetic and environmental factors. We assessed the occurrence of copy number variants (CNVs) in a cohort of 19 unrelated OAVS individuals with congenital heart defect. Chromosomal microarray analysis identified pathogenic CNVs in 2/19 (10.5%) individuals, and CNVs classified as variants of uncertain significance in 7/19 (36.9%) individuals. Remarkably, two subjects had small intragenic CNVs involving DACH1 and DACH2, two paralogs coding for key components of the PAX-SIX-EYA-DACH network, a transcriptional regulatory pathway controlling developmental processes relevant to OAVS and causally associated with syndromes characterized by craniofacial involvement. Moreover, a third patient showed a large duplication encompassing DMBX1/OTX3, encoding a transcriptional repressor of OTX2, another transcription factor functionally connected to the DACH-EYA-PAX network. Among the other relevant CNVs, a deletion encompassing HSD17B6, a gene connected with the retinoic acid signaling pathway, whose dysregulation has been implicated in craniofacial malformations, was also identified. Our findings suggest that CNVs affecting gene dosage likely contribute to the genetic heterogeneity of OAVS, and implicate the PAX-SIX-EYA-DACH network as novel pathway involved in the etiology of this developmental trait.

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).

Oculo-auriculo-vertebral-spectrum (OAVS; OMIM 164210) is a rare disorder originating from abnormal development of the first and second branchial arch. The clinical phenotype is extremely heterogeneous with ear anomalies, hemifacial microsomia, ocular defects, and vertebral malformations being the main features. MYT1, AMIGO2, and ZYG11B gene variants were reported in a few OAVS patients, but the etiology remains largely unknown. A multifactorial origin has been proposed, including the involvement of environmental and epigenetic mechanisms. To identify the epigenetic mechanisms contributing to OAVS, we evaluated the DNA-methylation profiles of 41 OAVS unrelated affected individuals by using a genome-wide microarray-based methylation approach. The analysis was first carried out comparing OAVS patients with controls at the group level. It revealed a moderate epigenetic variation in a large number of genes implicated in basic chromatin dynamics such as DNA packaging and protein-DNA organization. The alternative analysis in individual profiles based on the searching for Stochastic Epigenetic Variants (SEV) identified an increased number of SEVs in OAVS patients compared to controls. Although no recurrent deregulated enriched regions were found, isolated patients harboring suggestive epigenetic deregulations were identified. The recognition of a different DNA methylation pattern in the OAVS cohort and the identification of isolated patients with suggestive epigenetic variations provide consistent evidence for the contribution of epigenetic mechanisms to the etiology of this complex and heterogeneous disorder.

Orthognathic surgery: a randomized study comparing Piezosurgery and Saw techniques.

INTRODUCTION: The purpose of this study was to evaluate specific parameters: intra-operative time, facial swelling, degree of pain (VAS scale), recovery time and neurosensory disturbance in patients who underwent orthognathic surgery either using piezo or saw devices. MATERIAL AND METHODS: We designed a retrospective study, which included 100 patients who underwent bilateral sagittal split osteotomy (BSSO) surgery combined with maxillary Le Fort I. They were separated into 2 groups of 50 patients each. The surgeries were performed between September 2015 and April 2017 by the same surgeon. RESULTS: Intra-op time is unchanged but patients operated with the Piezo devices requested fewer painkilling medication and were dismissed on the second day after the surgery. Neurosensory recovery was statistically significant in the Piezo group. CONCLUSION: Far less post-op swelling and the reduction in the use of painkillers lead to a speedier recovery in patients who underwent orthognathic surgery using Piezosurgery. These patients also recovered more sensitivity in the lower lip area. KEY WORDS: Orthognatic surgery, Piezosurgery, Saw.

Relationship Between the Quantity of Nerve Exposure During Bilateral Sagittal Split Osteotomy Surgery and Sensitive Recovery.

AIM AND OBJECTIVES: The purpose of this study was to evaluate how different exposures of the V3 nerves during orthognathic surgery impact neurosensory disturbances. METHODS: The study included 127 patients who underwent either bilateral sagittal split osteotomy (BSSO) or BSSO with maxillary le Fort 1. They were divided into 6 groups, identified by the quantity of V3 nerve exposure. All patients were examined in a pre-op period and again after 1, 3, 6 months post-op. The standardized tests used were to clarify the objective and subjective neurosensory status of the exposed nerve. Neurosensory evaluation included; a pin prick test, the 2 points discriminator, light touch, warm and cold tests, and blunt discrimination. They were all done bilaterally on the lower lip area. RESULTS: In only 2 patients the nerve was damaged during surgery and thus they were not included in this study. In 10.2% of patients there was no nerve exposure, 25.2% had longitudinal vestibular segment nerve exposed, 22.8% had the longitudinal upper-vestibular segment exposed, 20.5% had the longitudinal lower-vestibular segment exposed, 14.2% had the longitudinal upper-lower-vestibular segment exposed, and in 7.1% of patients the nerve was totally exposed. Given the estimated time of 1 month there was 100% recovery in patients whose nerve was unexposed. Considering the other patients, the authors had a variable number of patients who did not recover completely. CONCLUSION: The authors estimate a correlation between the recovery time and the quantity of the exposed nerve. There is a high incidence of neurosensory disturbance in the lower lip and chin after BSSO and intraoperative quantity of nerve exposure.

Endoscopic endonasal versus transfacial approach for blowout fractures of the medial orbital wall.

In the last decades, the introduction of computed tomography has allowed an increase in the number of diagnosed fractures of the medial orbital wall. To repair medial wall fractures, many surgical techniques have been proposed (1), each one with its advantages and disadvantages. In this study, we compared endoscopic endonasal and transcutaneous reduction approaches in terms of surgery time and clinical outcome. Between 2001 and 2005, 81 patients with orbital wall fractures were treated at our department. Among these 81 patients, 24 (29.63%) were affected by a medial orbital fracture. Patients with fracture to both floor and medial walls underwent floor reduction by a transcutaneous subpalpebral approach (n = 9, 11.1%), whereas patients with isolated medial wall fracture underwent medial wall reduction by a transcutaneous subpalpebral approach using alloplastic implants (n = 8, 9.88%) or were treated by endoscopic approach (n = 5, 6.17%). After surgery, oculomotor function improved in all 22 patients. None of the patients had complications. Computed tomography revealed a well-consolidated site of fracture in both endoscopic endonasal and transcutaneous approaches. The average operating time for endoscopic endonasal and transfacial approach was 50 and 45 minutes, respectively. In this paper, the author proposed a results comparison between the endoscopic approach and the transcutaneous one.

A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum.

Oculo auriculo vertebral spectrum (OAVS; OMIM 164210) is a clinically and genetically heterogeneous disorder originating from an abnormal development of the first and second branchial arches. Main clinical characteristics include defects of the aural, oral, mandibular, and vertebral development. Anomalies of the cardiac, pulmonary, renal, skeletal, and central nervous systems have also been described. We report on a 25-year-old male showing a spectrum of clinical manifestations fitting the OAVS diagnosis: hemifacial microsomia, asymmetric mandibular hypoplasia, preauricular pits and tags, unilateral absence of the auditory meatus, dysgenesis of the inner ear and unilateral microphthalmia. A SNP-array analysis identified a de novo previously unreported microduplication spanning 723 Kb on chromosome 3q29. This rearrangement was proximal to the 3q29 microdeletion/microduplication syndrome region, and encompassed nine genes including ATP13A3 and XXYLT1, which are involved in the organogenesis and regulation of the Notch pathway, respectively. The present observation further expands the spectrum of genomic rearrangements associated to OAVS, underlying the value of array-based studies in patients manifesting OAVS features.

Giant palatal schwannoma.

Schwannoma is a benign tumor that arises from nerves that contain Schwann cells. We report a case of giant schwannoma of the hard palate, which originated from the greater palatine nerve and is interesting for its large dimensions.

Conservative surgical and microsurgical techniques for the management of dental implants that impinge on the inferior alveolar nerve.

Loss of sensation in the lip after insertion of an implant is annoying. The aim of this paper was to describe two techniques for management of osseointegrated dental implants that impinge on the mandibular nerve, the purpose of which is to improve sensation without unscrewing the dental implant.

Transoral endoscopic resection of low-grade, cricoid chondrosarcoma : endoscopic management of a series of seven patients with low-grade cricoid chondrosarcoma.

BACKGROUND: Low-grade chondrosarcomas account for 1 % of all laryngeal tumors and typically arise in the cricoid cartilage. They are usually indolent, slow-growing cancers that are locally invasive and rarely metastasize. Surgical excision is considered the treatment of choice. Radiotherapy and chemotherapy generally are ineffective. Surgical management must balance tumor clearance with preservation of laryngeal functions (swallowing, voice, and respiration). METHODS: Prospective outcome analysis of seven patients operated with endoscopic resection for low grade cricoid chondrosarcomas. RESULTS: Mean age at presentation was 61 years (range 49-75), male:female ratio was 4:3. All patients are currently alive and free of disease with an average follow-up of 80 months (range 63-138). Overall 5-year survival is 100 %, 5-year disease-free survival rate 85.7 %, and overall recurrence rates 14.3 %. One of the seven patients developed a limited recurrence at 21 months and underwent a second endoscopic resection. During initial management two patients needed temporary tracheotomy. Successful decannulation and normal breathing were obtained within 3 months with no long-term sequelae. The airway calibre of the remaining patients was minimally affected. All patients have normal postoperative swallowing function and adequate voice that is unassisted by amplification. CONCLUSIONS: These findings support the use of endoscopic resection for managing selected newly diagnosed cases of cricoid chondrosarcoma as well as the role of repeated endoscopic resection for managing cases of recurrent cricoid chondrosarcoma.

LEOPARD syndrome: maxillofacial care.

This article reports a case of a boy with LEOPARD syndrome with unusual mandibular osteolytic osteoclastic-like lesions and eruption disorder. The patient was referred to our department for bilateral facial swelling: systemic examinations, diagnosis, and dental and maxillofacial care are reported.

Temporomandibular synovial chondromatosis with numerous nodules.

Synovial chondromatosis of the temporomandibular joint is an uncommon disorder with an indolent clinical course and a slow progression. We report a rare case of unilateral early synovial chondromatosis of the temporomandibular joint with numerous nodules and discuss possible etiologies for the entity of loose bodies and the evolution of this disease.

Management of a bulky capillary hemangioma in the parapharyngeal space with minimally invasive surgery.

In this article, the authors report their management with minimally invasive surgery of a bulky capillary hemangioma in the parapharyngeal space. Parapharyngeal space capillary hemangioma is a rare tumor in adults. Because of its rarity and difficulty to treat, we suggest a multidisciplinary approach in choosing the best treatment, with an accurate follow-up.

A novel osteogenic distraction device for the transversal correction of temporozygomatic hypoplasia.

BACKGROUND: Hemifacial microsomia (HFM) is a congenital disorder characterized by craniofacial malformation of one or both sides of the lower face. Since these anomalies are associated with soft-tissue deficiencies, corrective surgery is often difficult. Bone grafts have typically been used for augmentation, but distraction osteogenesis now offers an alternative for many craniofacial deficiencies, but there are few if any appropriate distraction devices and surgical procedures for the augmentation of craniofacial transversal dimensions. METHODS: The aim of this study was to evaluate a technique for guided augmentation of craniofacial transversal dimensions through distraction osteogenesis. We tested the efficacy of a prototype distractor, developed in collaboration with Medartis, using cadavers and demonstrated its application for the correction of the transverse dimension of the temporozygomatic region in a patient with Goldenhar syndrome. RESULTS: CT scans showed a 4-mm transverse augmentation of the bony surface after 9 days and a 10-mm increase after 30 days. Upon removal of the distractor (60 days after the first surgery) CT indicated good bony fusion and a stable result in the transverse plane. Six months after removal of the distractor, 3D computed tomography confirmed the success of the transverse augmentation, as it appeared to be stable and reliable. CONCLUSIONS: Distraction osteogenesis, using our device, can be used to correct the transverse dimension of the temporozygomatic region in HFM patients. It should also be considered for the correction of residual postsurgical skeletal deficiency due to surgical relapse or deficient growth, and unsatisfactory skeletal contour.