Management of patellar problems in skeletally mature patients with nail-patella syndrome

Purpose Nail-patella syndrome (NPS) or hereditary onychoosteodysplasia is a rare autosomal dominant disease, characterized by a tetrad of findings, which include fingernail abnormalities, hypoplasia of the patellae, radial head dislocation and prominent iliac horns. Most of the literature on the treatment of patellar problems in NPS concerns paediatric patients, and there is no standard treatment algorithm for adult patients. Methods We reviewed the charts of skeletally mature patients with NPS who presented to our clinic. We reviewed the presenting complaints, the physical examination findings and the radiographic imaging. Results We identified seven skeletally mature patients with NPS who presented with patellofemoral complaints. Their symptoms were instability, pain, or a combination of the two. Examination and imaging revealed a wide range of severity but included patellar instability and patellar arthritis. In our series, milder forms of the disease were treated with non-operative measures, but the majority of our patients required surgery including medial patellofemoral ligament reconstruction, tibial tuberosity transposition, patellofemoral and total knee arthroplasty. At midterm follow- up, most patients had good results. Conclusion Nail-patella syndrome has a wide range of presentations and severity in skeletally mature patients. Knee surgeons should be familiar with the spectrum of clinical presentation and the range of treatment options available in order to provide optimum treatment for patients with this disorder

Letter to the Editor: Is Isolated Mobile Component Exchange an Option in the Management of Intraprosthetic Dislocation of a Dual Mobility Cup?

The main goal of the article was to define the surgical strategy for the cup in patients with intraprosthetic dislocation. The article also provided a descriptive analysis of intraprosthetic dislocation in this population. This is in fact the paradox of the dual-mobility system. We believe that it is the best option for preventing dislocation, such as may occur with conventional THA implants

Long-term survivorship of the Corail? standard stem

Introduction The Corail? stem, which was first introduced in 1986, has since been modified twice: first to make the neck thinner and then to change the location of the laser markings. The survival and complications of the first-generation straight, titanium, hydroxyapatite-coated stem are known; however, there is little specific information about the latest-generation stem. This led us to conduct a retrospective study to determine the: (1) long-term survival; (2) clinical and radiographic outcomes; (3) complications; and (4) risk factors for revision of the newest Corail? stem. Hypothesis The newest Corail? AMT (Articul/EZE? Mini Taper) standard stem has comparable survival to prior models. Patients and methods This single-center, retrospective study included 133 patients (140 hips), who underwent primary total hip arthroplasty (THA), between January and December 2004, in which a Corail? Standard stem was implanted using a posterolateral approach. Patients who underwent revision THA, THA due to femoral neck fracture or who received lateralized (offset) stems were excluded. The mean age at the time of THA was 69±13 years [35-92] in 85 men (61%) and 55 women (39%) who had a mean BMI of 27kg/m2±11 [16-39]. At the latest follow-up, 32 patients (32 hips) had died and 8 patients (8 hips) had less than 3 years' follow-up, thus were not included in the clinical evaluation. The Merle d'Aubigné (PMA) score was collected. The stem's survivorship was calculated using the Kaplan-Meier method with revision for aseptic loosening and revision or implant removal for any reason as the end-points. The Cox model was used to analyze risk factors for revision. The mean follow-up was 10±3 years [3-12]. Results The PMA score was 12±2.6 [5-17] preoperatively and 16±2.7 [7-18] at the last follow-up (

Does healing of both greater and lesser tuberosities improve functional outcome after reverse shoulder arthroplasty for fracture? A retrospective study of twenty-eight cases with a computed tomography scan at a minimum of one-year follow-up

PURPOSE: Reverse shoulder arthroplasty (RSA) is often indicated in elderly patients with displaced proximal humerus fractures (PHF). The rate of greater tuberosity (GT) healing varies from 37 to 90% in this population. The aim of this study was to assess greater and lesser tuberosity (LT) fixation and healing on CT scan after RSA for PHF. Our hypothesis was that both GT and LT healing leads to better functional results after RSA for fracture. METHODS: Our retrospective cohort consisted of 28 patients treated with an RSA for a four-part PHF during the inclusion period. The mean age at surgery was 77 years. Clinical examination and CT scan were performed at a minimum one year follow-up to assess tuberosity position and healing. RESULTS: The GT healed in 22 patients (78.5%), the LT in 24 patients (87.5%) and both tuberosities were healed in 20 patients (71.5%). Constant score was significantly improved with GT, LT and both tuberosity healing (p = 0.05, p = 0.04 and p = 0.02 respectively). Motion in anterior elevation was improved with GT and both tuberosity healing (p = 0.01 and p = 0.04 respectively). Motion in external rotation was improved with GT and both tuberosity healing (p = 0.01 and p = 0.02 respectively). CONCLUSION: GT and LT healing was associated with better functional results and active motion. Anatomical reduction and consolidation of both tuberosities is beneficial with a cumulative effect for functional recovery

Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?

International audienceMEN1 is an autosomal dominant hereditary syndrome characterized by several endocrine tumors, in most cases affecting the parathyroid glands, pancreas, and anterior pituitary. It is the result of inactivating mutations in the tumor suppressor gene MEN1. More than 1300 different mutations have been identified in this gene. Mosaic MEN1 mutations have been previously described in only a few patients in the literature. In this paper, we provide a review of six cases of MEN1 mosaicism reported in the literature supplemented with six additional cases described by the French TENgen network of laboratories. This review highlights that (i) MEN1 mosaicism is not associated with a mild phenotype and results in the same natural history as heterozygous MEN1 mutation and (ii) that more systematic detection of MEN1 mosaic mutation enables improvements in both patient monitoring and genetic counseling

Population pharmacokinetics of daptomycin in patients with bone and joint infection: minimal effect of rifampicin co-administration and confirmation of a sex difference

International audienceBackground Daptomycin is increasingly used in the treatment of bone and joint infection (BJI), but its pharmacokinetics (PK) and dosage requirements have not been thoroughly investigated in this indication. Daptomycin may be co-administered with rifampicin, which raises questions about a potential drug interaction. Objectives To investigate the population PK and dosage requirements of daptomycin in patients with BJI, and examine the influence of rifampicin co-administration. Methods A population approach was used to analyse PK data from patients who received daptomycin in our regional reference for BJI. We examined the influence of available covariates, including rifampicin co-administration on daptomycin PK. Simulations performed with the final model investigated the influence of dosages and covariates on PTA for both efficacy and safety. Results A total of 1303 daptomycin concentrations from 183 patients were analysed. A two-compartment model best described the data. Significant intra-individual variability was observed. Daptomycin clearance was influenced by renal function and sex, with females having a 26% lower typical clearance than males. Central volume of distribution (V1) was influenced by body weight, age, sex and rifampicin co-administration. Typical V1 was 11% lower in patients who were co-administered rifampicin. In PK/PD simulations, sex influenced the probability of AUC24/MIC target attainment, while rifampicin had a marginal effect. Conclusions A daptomycin dosage of 8 mg/kg/24 h in women and 10 mg/kg/24 h in men should optimize efficacy but may lead to excessive trough concentrations in many patients, especially in women. Therapeutic drug monitoring appears necessary for precision dosing of daptomycin