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Background: Juvenile osteochondritis dissecans of the talus (JOCDT) is a focal idiopathic lesion primarily of the subchondral bone leading to subsequent cartilaginous damage. The majority of the papers dealing with JOCDT reported heterogeneous case studies of patients treated with different cartilage repair techniques. The purpose of this paper is to retrospectively review both clinical and radiologic results among 7 patients affected by JOCDT treated with arthroscopic bone marrow aspirate concentrate (BMAC) transplantation with the 1-step technique., Methods: Both standard anterior-posterior and lateral radiographs and a 1.5 T magnetic resonance imaging of the affected ankle were preoperatively performed in all the patients. The American Orthopaedic Foot and Ankle Society (AOFAS) score and the visual analogue scale were administered to the patients preoperatively and at the final follow-up., Results: Patients were followed up to an average of 48.1±18.4 months. According to the Berndt and Harty classification, 6 lesions were found to be in stage III and 1 lesion in stage IV. The average preoperative AOFAS score was 58.8±7.6 points. At the mean follow-up of 48.1 months the average AOFAS score improved to 95.7±5.4 points (P<0.05). Visual analogue scale improved from 6.3 preoperatively to 0.4 at final follow-up (P<0.05). Complete radiographic healing, in terms of complete bony filling, was observed in 3 of 7 cases. The magnetic resonance imaging analysis showed a complete filling of the osteochondral defect in 4 patients, whereas in 1 patient a hypotrofic tissue was observed., Conclusions: BMAC transplantation is able to provide good to excellent results in the treatment of JOCDT. The 43% of our patients showed a complete radiographic healing, but all the patients were satisfied with the procedure. Because of the rareness of the lesion, further studies involving more patients and with a longer follow-up are required, to establish the advantage of performing a regenerative procedure like the BMAC transplantation in a pediatric population., Level of Evidence: Level IV.

Orofacial clefts are the most common congenital craniofacial anomalies and can occur as an isolated defect or be associated with other anomalies such as posterior fossa anomalies as a part of several genetic syndromes. We report two consecutive voluntary pregnancy interruptions in a nonconsanguineous couple following the fetal ultrasound finding of cleft lip and palate and posterior fossa anomalies confirmed by means of post-termination examination on the second fetus. The quantitative fluorescent PCR, the karyotype, and the comparative genomic hybridization-array analysis after amniocentesis were normal. Exome sequencing on abortive material from both fetuses detected a missense mutation in MID1, resulting in a clinical diagnosis of Opitz G/BBB syndrome. The same mutation was found in the mother and in her brother, who both revealed cerebellar anomalies at an MRI examination. Our study supports the efficacy of exome sequencing in the presence of both a family history suggestive of an inherited disorder and well-documented ultrasound findings. It reveals the importance of a synergistic effort between gynecologists and geneticists aimed at the integration of the most sophisticated ultrasound techniques with the next-generation sequencing tools to provide a definite diagnosis essential to orient the final decision and to estimate a proper recurrence risk.

Particulate bone augmentation is an established clinical alternative to regenerate bone. However, in regions of poor bone quality or previously infected sites, the clinical outcomes are more inconsistent. For that purpose, peptides have been added to particulate materials in an attempt to render them with antibacterial properties or to improve their osseoconductivity. For instance, competence-stimulating peptide (CSP) has been studied to decrease the division rate of Streptococcus mutans. Also, the addition of a specific short amino acid sequence peptide derived from type I collagen (P-15) to the bone substitutes has been introduced in an attempt to increase its osseoconductivity. The present study hypothesized that xenogeneic graft materials with and without CSP would present improved host-to-biomaterial response when used in combination with P-15. Particulate graft materials with and without P-15, OsteoGraf with CSP and OsteoGraf, were implanted in an 8-mm rabbit calvarial defect for 4 weeks, and thereafter, histological and histomorphometrical evaluation was performed. The results showed that both OsteoGraf and CSP groups with the addition of P-15 induced bone growth towards the center of the defect. Furthermore, the addition of CSP to Osteograf showed a tendency to increase its osteoconductivity when combined with P-15. The results of the current study suggested that P-15 had some impact on osteogenesis; however, the effect differed between different bone substitute materials. Further investigation is necessary to clarify its effectiveness when used in combination with bone substitutes.