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.     

Biomedical Ti–Mo Alloys with Surface Machined and Modified by Laser Beam: Biomechanical,Histological, and Histometric Analysis in Rabbits

Purpose: In vivo bone response was assessed by removal torque, hystological and histometrical analysis on a recently developed biomedical Ti‐15Mo alloy, after surface modification by laser beam irradiation, installed in the tibia of rabbits. Materials and Methods: A total of 32 wide cylindrical Ti‐15Mo dental implants were obtained (10 mm × 3.75 mm). The implants were divided into two groups: 1) control samples (Machined surface – MS) and 2) implants with their surface modified by Laser beam‐irradiation (Test samples – LS). Six implants of each surface were used for removal torque test and 10 of each surface for histological and histometrical analysis. The implants were placed in the tibial metaphyses of rabbits. Results: Average removal torque was 51.5 Ncm to MS and >90 Ncm to LS. Bone‐to‐implant‐contact percentage was significantly higher for LS implants both in the cortical and marrow regions. Conclusions: The present study demonstrated that laser treated Ti‐15Mo alloys are promising materials for biomedical application.     

Femtosecond laser-assisted implantation of corneal stroma lenticule for keratoconus

International Ophthalmology - To review recent progress, challenges, and future perspectives of stromal keratophakia for the treatment of advanced keratoconus. We systematically reviewed the...     

Immediate loading of mandibular overdentures supported by unsplinted direct laser metal-forming implants: results from a 1-year prospective study

Background: At present, only some studies have dealt with immediate loading of unsplinted implants supporting mandibular overdentures. The aim of this prospective study is to evaluate treatment outcomes of mandibular overdentures supported by four one‐piece, unsplinted, immediately loaded, direct laser metal‐forming (DLMF) implants by assessing implant survival rate, implant success, marginal bone loss, and prosthetic complications. Methods: A total of 96 one‐piece DLMF implants were inserted in the edentulous mandible of 24 patients. Four implants were placed in each edentulous mandible. Immediately after implant placement, a mandibular overdenture was connected to the implants. At 1‐year follow‐up, clinical, radiographic, and prosthetic parameters were assessed. Success criteria included absence of pain, suppuration, and implant mobility; absence of continuous peri‐implant radiolucency; and distance between the implant shoulder and the first visible bone contact <1.5 mm. Results: After a 1‐year loading time, the overall implant survival rate was 98.9%, with only one implant lost. Among the surviving 95 implants, two did not fulfill the success criteria; therefore, the implant success rate was 97.8%. The mean distance between the implant shoulder and the first visible bone contact was 0.28 ± 0.30 mm (95% confidence interval, 0.24 to 0.32). Some prosthetic complications were reported. Conclusion: Based on the present results and within the limits of this study, the immediate loading of four unsplinted DLMF implants by means of ball attachment–supported mandibular overdentures seems to represent a safe and successful procedure.     

Peri-implant collagen fibers around human cone Morse connection implants under polarized light: a report of three cases

Most of the histologic studies found in the literature on the peri-implant soft tissues have been done in animals and usually have been confined to mandibular implants fitted with healing or standard abutments. Few studies have investigated human peri-implant soft tissues. Moreover, the structure and dimensions of the peri-implant soft tissues in immediately loaded implants have not been investigated in depth. Human histologic data are valuable to validate animal models. This histologic and histomorphometric study evaluated the peri-implant soft tissues around three immediately loaded implants in humans. The implants were retrieved using a trephine and treated to obtain thin, ground sections. The sulcular epithelium was composed of approximately four to five layers of parakeratinized epithelial cells and had a length of approximately 1.2 to 1.3 mm. The junctional epithelium was composed of approximately three to four layers of epithelial cells and had a length of approximately 1.0 to 1.5 mm. Connective tissue attachment had a width of between 400 and 800 μm. Peri-implant collagen fibers, in the form of bundles (1- to 5-μm thick), began at the crestal bone and were oriented perpendicular to the abutment surface until 200 μm from the surface, where they became parallel running in several directions. Collagen fibers appeared to form a three-dimensional network around the abutment. No acute or chronic inflammatory cell infiltrate was present. Collagen fibers oriented in a perpendicular manner and in direct contact with the abutment surface were not observed in any of the specimens. This differentiated network of fibers may have clinical relevance as a mechanical protection of the underlying bone. These human histologic data are extremely valuable to validate and confirm those obtained from studies performed on animal models. Moreover, immediate loading of the implants did not compromise soft tissue integration.