Charnley low-friction arthroplasty of the hip. Five to 25 years survivorship in a general hospital

<p>Abstract</p> <p>Background</p> <p>Some studies have raised the question about whether the good results obtained with the Charnley prosthesis could be replicated at general hospitals when it comes to the frequency of early complications and failure rates, both of which would be higher than those published by centres devoted to hip arthroplasties.</p> <p>Methods</p> <p>We reviewed the results of 404 Low Friction Arthroplasties of the hip implanted between 1976 and 1993 in a general hospital by general orthopaedic surgeons. For the survival analysis, the end-point chosen would be the chirurgical revision of any of the prosthetic components for whatever reason.</p> <p>Results</p> <p>The complications were 16 dislocations (4%), 14 deep infections (3.5%), 2 neurological injuries (0,5%) and 5 clinical deep venous thromboses (1.2%) (2 pulmonary embolisms). The survival rate at 25 years, both for stem and cup, was 83%. Survival was higher in those arthroplasties implanted in patients older than 60 years, with statistical significance.</p> <p>Conclusion</p> <p>Low Friction Arthroplasty undertaken at general hospitals by general orthopaedic surgeons feature similar outcomes to those found in centres devoted to hip surgery.</p

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425 and PI19/00321), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), European Regional Development Fund (FEDER), the Organización Nacional de Ciegos Españoles (ONCE), Fundación Ramón Areces, Fundación Conchita Rábago and the University Chair UAM-IIS-FJD of Genomic Medicine. Irene Perea-Romero is supported by a PhD fellowship from the predoctoral Program from ISCIII (FI17/00192). Ionut F. Iancu is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017-AI/BMD7256). Marta del Pozo-Valero is supported by a PhD grant from the Fundación Conchita Rábago. Berta Almoguera is supported by a Juan Rodes program from ISCIII (JR17/00020). Pablo Minguez is supported by a Miguel Servet program from ISCIII (CP16/00116). Marta Corton is supported by a Miguel Servet program from ISCIII (CPII17/00006). The funders played no role in study design, data collection, data analysis, manuscript preparation and/or publication decisions

Constrained acetabular liners in hip revision surgery. A low cost solution for senile patients

The objective of this study was to analyse the results using a cemented polyethylene model that captures the hip prosthetic head. In a retrospective study we have reviewed 36 cemented constrained acetabular liners implanted in patients older than 75 years (mean 83, SD: 4.4), 30 patients were aged between 80-90 years. The average period of follow-up of our patients was 25.4 months (12-39 months, SD: 7.3). 26 were women. In 26 patients this model was implanted due to recurrent dislocation or instability, in 8 other cases this model was implanted in revision surgery for periprosthetic fractures, aseptic loosening of the acetabular component, wear of the polyethylene or replacement of the implant because of infection. There was a single case of recurrent dislocation (2.8%). Cemented acetabular constrained liners are a good option in revision surgery in senile patients in which the femoral stem is firmly fixed to the bone