Odontogenic tumours in children and adolescents: a collaborative study of 431 cases

This study describes the oral and maxillofacial pathological characteristics of a series of odontogenic tumours in children and adolescents from three Brazilian reference centres. The records were reviewed for all odontogenic tumours in patients up to 18 years old based on criteria proposed by the World Health Organization (WHO) in 2005. Data concerning sex, age, skin colour and tumour location were collected and plotted. Four hundred and thirty one odontogenic tumours in children and adolescents were found, accounting for 37.5% of the total number of odontogenic tumours diagnosed. Benign tumours were predominant (99.8% of the cases), and odontoma was the most frequent type (41.4%), followed by keratocystic odontogenic tumours (25.5%) and ameloblastoma (14.6%). Odontogenic tumours were rarely detected in early childhood, and their prevalence increased with age. An almost equal distribution was observed with respect to sex and the site of the lesions. This study is the largest reported retrospective analysis describing odontogenic tumours in children and adolescents to date. The authors detected some variation in the relative frequency of odontogenic tumours compared with similar reports. Additional studies should be conducted based on the new WHO classification and predetermined age parameters to enable comparative analysis among different worldwide populations.     

10‐Year Follow‐Up of Immediately Loaded Implants with TiUnite Porous Anodized Surface

Background: The immediate loading of implants with a porous anodized surface is a well‐described technique. Few data are however available on the long‐term outcomes. Purpose: The aim of this prospective study was to assess the 10‐year performance of TiUnite implants supporting fixed prostheses placed with an immediate loading approach in both postextractive and healed sites. Materials and Methods: All patients received a fixed provisional restoration supported by immediately loaded parallel design, self‐tapping implants with a porous anodized TiUnite surface, and an external‐hexagonal connection. Both healed and postextractive cases were included. Success and survival rate for restorations and implants, changes in marginal peri‐implant bone level, probing depth measurements, biological or technical complications, and any other adverse event were recorded at yearly follow‐up up to 10 years after surgery. Results: A total of 210 implants fulfilled the inclusion criteria and were consecutively placed in 59 patients. Forty‐seven (22.38%) implants were lost because of the recalled patient refused to attend the planned 10‐year follow‐up. Five over 210 (2.38%) implants were lost. At the final follow‐up, the accumulated mean marginal bone loss and probing depth were, respectively, 1.93 mm (SD 0.40) and 2.54 mm (SD 0.44) for the implants placed in healed sites (n = 84); 1.98 mm (SD 0.37) and 2.63 mm (SD 0.39) for the implants placed in postextractive sites (n = 74). The restorations examined achieved a cumulative 65.26% success rate and 97.96% survival rate. The implants placed in healed and postextractive sites, respectively, achieved a 98.05% and a 96.52% cumulative survival rate. Conclusions: Positive results in terms of bone maintenance in the long‐term perspective are to be expected using immediately loaded implants with a TiUnite porous anodized surface in both postextractive and healed sites when adequate levels of oral hygiene are kept.     

The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms

Based on our previous finding of the p.A382T founder mutation in ALS patients with concomitant parkinsonism in the Sardinian population, we hypothesized that the same variant may underlie Parkinson's disease (PD) and/or other forms of degenerative parkinsonism on this Mediterranean island. We screened a cohort of 611 patients with PD (544 cases) and other forms of degenerative parkinsonism (67 cases) and 604 unrelated controls for the c.1144G > A (p.A382T) missense mutation of the TARDBP gene. The p.A382T mutation was identified in nine patients with parkinsonism. Of these, five (0.9 % of PD patients) presented a typical PD (two with familiar forms), while four patients (6.0 % of all other forms of parkinsonism) presented a peculiar clinical presentation quite different from classical atypical parkinsonism with an overlap of extrapyramidal–pyramidal–cognitive clinical signs. The mutation was found in eight Sardinian controls (1.3 %) consistent with a founder mutation in the island population. Our findings suggest that the clinical presentation of the p.A382T TARDBP gene mutation may include forms of parkinsonism in which the extrapyramidal signs are the crucial core of the disease at onset. These forms can present PSP or CBD-like clinical signs, with bulbar and/or extrabulbar pyramidal signs and cognitive impairment. No evidence of association has been found between TARDBP gene mutation and typical PD.     

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: Rare association with pulmonary valve stenosis

Microdeletion 1q21.1 (del 1q21.1) and the reciprocal microduplication 1q21.1 (dup 1q21.1) are newly recognized genomic disorders, characterized by developmental delay, dysmorphic features and congenital malformations. Congenital heart defect (CHD) is a major feature of del 1q21.1, and has been occasionally reported in dup 1q21.1. We report here a family segregating del 1q21.1 in 3 members. Two of the affected family members had CHD, including the proband with syndromic atrial septal defect, pulmonary valve stenosis (PVS), and muscular ventricular septal defects, and the maternal uncle with non-syndromic PVS. This finding prompted investigation of the role of recurrent rearrangements of chromosome 1q21.1 in the pathogenesis of PVS. We gathered 38 patients with PVS (11 syndromic and 27 non-syndromic), and searched for genomic rearrangements of 1q21.1. A dup 1q21.1 was detected in a single sporadic non-syndromic patient. Review of the CHDs in published del 1q21.1 and dup 1q21.1 subjects showed a great heterogeneity in anatomic types. In conclusion, the present family illustrates recurrent CHD in del 1q21.1, expressing either as syndromic in one family member or as non-syndromic in the another one. The spectrum of CHDs associated with del 1q21.1 and dup 1q21.1 can occasionally include PVS.     

Bone‐to‐Implant Contact Around Immediately Loaded Direct Laser Metal‐Forming Transitional Implants in Human Posterior Maxilla

Objective: Direct laser metal forming (DLMF) is a procedure in which a high‐power laser beam is directed onto a metal powder bed and programmed to fuse particles according to a computer‐aided design file, generating a thin metal layer. This histologic study evaluated the bone‐to‐implant contact (BIC%) around immediately loaded DLMF transitional implants retrieved after 2 months from posterior human maxillae. Methods: Twelve totally edentulous individuals (mean age, 66.14 ± 2.11 years) received DLMF transitional implants divided in twelve immediately loaded (IL) and twelve unloaded (UI) implants. These transitional implants were placed between conventional implants to support the interim complete maxillary denture during the healing period. After 8 weeks, the transitional implants and the surrounding tissue were removed and prepared for histomorphometric analysis. Results: Mature woven preexisting bone lined by newly formed bone in early stages of maturation were found around all retrieved implants. Histometric evaluation indicated that the mean BIC% was 45.20 ± 7.68% and 34.10 ± 7.85% for IL and UI, respectively (P <0.05). Conclusion: The present data obtained in humans showed that, although both IL and UI presented good BIC%, IL DLMF implants had a higher BIC% in the posterior maxilla.     

Augmentation of the floor of the maxillary sinus with recombinant human bone morphogenetic protein-7: a pilot radiological and histological study in humans

The aim of this study was to evaluate the quantity and quality of bony regeneration after we had used recombinant human bone morphogenetic protein-7 (rhBMP-7 to augment the floor of the maxillary sinus. Nine consecutive patients with bilateral posterior maxillary atrophy who required augmentation of the sinus for interposition of implants were treated simultaneously with rhBMP-7 (Osigraft) with deproteinised bone substitute (0.5 g on the test side) and with deproteinised bone alone (2.0 g on the control side). Computed tomographic images preoperatively, immediately postoperatively, and at 4 months postoperatively showed a mean (SD) postoperative gain of 10.8 (3.0) mm on the test side and of 10.2 (1.8) mm on the control side. Histological and histomorphometric analyses of biopsy specimens showed that there was significantly more new bone on the control side (19.9 (6.8)%) than on the test side (6.6 (4.8)%). In this pilot controlled trial of the use of rhBMP-7, histological analyses showed that it resulted in the formation of less bone than treatment with inorganic bovine hydroxyapatite.