Background: We performed a systematic review on the management of patellar fracture nonunion and report a novel suturebased non-metallic fixation technique associated with platelet-rich plasma and mesenchymal stem cell injections in the management of this injury. Methods: A systematic search was performed up to August 2020 in PubMed and Scopus electronic databases of scholarly articles evaluating different surgical techniques used for nonunion of patellar fractures, with no restrictions on language or year of publication. Furthermore, we describe our novel non-metallic suture fixation technique and a patient in whom this technique was applied. Results: A total of 9 articles were included in the systematic review. Tension band wiring was the most commonly used procedure (62.7%). Nonoperative procedures (8.1%) resulted in nonunion in all patients. The most common complication after open reduction and internal fixation was infection (7.8%). Our patient at the latest follow-up reported full functional recovery and full extension and flexion of the affected knee with no pain and subjectively normal strength. Conclusions The management of patella nonunions is still a challenge. The technique reported here can be used in patellar fracture nonunion, as well as in primary patellar fractures.

Background: We performed a systematic review on the management of patellar fracture nonunion and report a novel suturebased non-metallic fixation technique associated with platelet-rich plasma and mesenchymal stem cell injections in the management of this injury. Methods: A systematic search was performed up to August 2020 in PubMed and Scopus electronic databases of scholarly articles evaluating different surgical techniques used for nonunion of patellar fractures, with no restrictions on language or year of publication. Furthermore, we describe our novel non-metallic suture fixation technique and a patient in whom this technique was applied. Results: A total of 9 articles were included in the systematic review. Tension band wiring was the most commonly used procedure (62.7%). Nonoperative procedures (8.1%) resulted in nonunion in all patients. The most common complication after open reduction and internal fixation was infection (7.8%). Our patient at the latest follow-up reported full functional recovery and full extension and flexion of the affected knee with no pain and subjectively normal strength. Conclusions The management of patella nonunions is still a challenge. The technique reported here can be used in patellar fracture nonunion, as well as in primary patellar fractures.

Angelman syndrome (AS) is a severe neurobehavioural disorder caused by failure of expression of the maternal copy of the imprinted domain located on 15q11-q13. There are different mechanisms leading to AS: maternal microdeletion, uniparental disomy, defects in a putative imprinting centre, mutations of the E3 ubiquitin protein ligase (UBE3A) gene. However, some of suspected cases of AS are still scored negative to all the latter mutations. Recently, it has been shown that a proportion of negative cases bear large deletions overlapping one or more exons of the UBE3A gene. These deletions are difficult to detect by conventional gene-scanning methods due to the masking effect by the non-deleted allele. In this study, we have used for the first time multiplex ligation-dependent probe amplification (MLPA) and comparative multiplex dosage analysis (CMDA) to search for large deletions affecting the UBE3A gene. Using this approach, we identified a novel causative deletion involving exon 8 in an affected sibling. Based on our results, we propose the use of MLPA as a fast, accurate and inexpensive test to detect large deletions in the UBE3A gene in a small but significant percentage of AS patients.
Angelman Syndrome/*genetics ; Child ; Female ; Gene Deletion ; Gene Dosage ; Genetic Testing ; Humans ; Male ; Ubiquitin-Protein Ligases/*genetics