Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder, characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation. The LMNA gene encoding two nuclear envelope proteins (lamins A and C [lamin A/C]) maps to chromosome 1q21 and has been associated with five distinct pathologies, including Dunnigan-type familial partial lipodystrophy, a condition that is characterized by subcutaneous fat loss and is invariably associated with insulin resistance and diabetes. Since patients with MAD frequently have partial lipodystrophy and insulin resistance, we hypothesized that the disease may be caused by mutations in the LMNA gene. We analyzed five consanguineous Italian families and demonstrated linkage of MAD to chromosome 1q21, by use of homozygosity mapping. We then sequenced the LMNA gene and identified a homozygous missense mutation (R527H) that was shared by all affected patients. Patient skin fibroblasts showed nuclei that presented abnormal lamin A/C distribution and a dysmorphic envelope, thus demonstrating the pathogenic effect of the R527H LMNA mutation.

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The purpose of this study was to report the long-term clinical outcome in a group of 14 patients treated for an avulsion fracture of the tibial spine. On the basis of the Meyers and McKeever classification, there were four type I avulsions, three type II and seven type III. Seven patients were treated nonoperatively and seven patients were operated according to one of the two different protocols: open reduction and internal fixation and arthroscopic reduction and internal fixation. At follow-up, four patients had clinical signs of joint instability, but no subjective instability. One patient with a type III lesion treated nonsurgically showed severe instability. All other patients returned to the same sport activity level that they had had before the fracture. We obtained good results in 13 out of 14 cases. Good results can be obtained when type I fractures are treated nonoperatively. Type II and type III lesions showed better results after arthroscopic reduction and internal fixation. Nonabsorbable suture fixation for osteosynthesis is recommended. The prognosis is strictly related to the type of fracture, anatomic reduction and articular congruity.

We have attempted to identify the most important long-term prognostic factors in Perthes' disease by studying 61 patients affected unilaterally. The average age at diagnosis was 7 years 5 months and at follow-up it was 32 years, an average interval of 25 years. The age at diagnosis, age at follow-up, Catterall group, acetabular coverage, femoral head subluxation and the other head-at-risk signs were statistically correlated with Stulberg, Cooperman and Wallensten (1981) radiographic classes and the Iowa hip score. Statistically significant correlations were found between Stulberg class and Iowa hip score; age at diagnosis and Stulberg class; age at follow-up and Iowa hip score; and between lateral subluxation of the femoral head and Iowa hip score. Three age-groups of patients were found to carry different long-term prognoses. Those below five years of age at diagnosis showed a statistically significant correlation between Catterall group and Stulberg Classes I and II. Patients between five and nine years of age at diagnosis showed a significant correlation between Catterall group and Stulberg aa I, II, III and IV while in patients diagnosed after nine years of age there was no statistical correlation between Catterall group and Stulberg class, all having a poor prognosis and ending up in Stulberg Classes

BackgroundArthroscopic rotator cuff repair has become popular in the last few years because it avoids large skin incisions and deltoid detachment and dysfunction. Earlier arthroscopic single-row (SR) repair methods achieved only partial restoration of the original footprint of the tendons of the rotator cuff, while double-row (DR) repair methods presented many biomechanical advantages and higher rates of tendon-to-bone healing. However, DR repair failed to demonstrate better clinical results than SR repair in clinical trials. MR imaging at 3 Tesla, especially with intra-articular contrast medium (MRA), showed a better diagnostic performance than 1.5 Tesla in the musculoskeletal setting. The objective of this study was to retrospectively evaluate the clinical and 3 Tesla MRA results in two groups of patients operated on for a medium-sized full-thickness rotator cuff tear with two different techniques.MethodsThe first group consisted of 20 patients operated on with the SR technique; the second group consisted of 20 patients operated on with the DR technique. All patients were evaluated at a minimum of 3 years after surgery. The primary end point was the re-tear rate at 3 Tesla MRA. The secondary end points were the Constant-Murley Scale (CMS), the Simple Shoulder Test (SST) scores, surgical time and implant expense.ResultsThe mean follow-up was 40 months in the SR group and 38.9 months in the DR group. The mean postoperative CMS was 70 in the SR group and 68 in the DR group. The mean SST score was 9.4 in the SR group and 10.1 in the DR group. The re-tear rate was 60% in the SR group and 25% in the DR group. Leakage of the contrast medium was observed in all patients.ConclusionsTo the best of our knowledge, this is the first report on 3 Tesla MRA in the evaluation of two different techniques of rotator cuff repair. DR repair resulted in a statistically significant lower re-tear rate, with longer surgical time and higher implant expense, despite no difference in clinical outcomes. We think that leakage of the contrast medium is due to an incomplete tendon-to-bone sealing, which is not a re-tear. This phenomenon could have important medicolegal implications.Level of evidence III. Treatment study: Case–control study.

Incorrect bone tunnel position, particularly on the femoral side, is a frequent cause of failed anterior cruciate ligament reconstruction. Several studies have reported that drilling the femoral tunnel through the anteromedial portal allows a more anatomical placement on the lateral femoral condyle and higher knee stability than does transtibial reconstruction.In the current study, the femoral tunnel was drilled with transtibial (n=6) and anteromedial (n=6) portal techniques in 12 cadaveric knees. With appropriate landmarks inserted into bone tunnels, the direction and length of the tunnels were determined on anteroposterior and lateral radiographs. Knee stability was evaluated with a KT1000 arthrometer (MEDmetric Corporation, San Diego, California) and pivot shift test, comparing the pre- and postoperative values of both techniques. Finally, all knees were dissected to enhance vision of the insertion of the reconstructed ligament. The anteromedial portal technique led to better placement of the femoral tunnel in the coronal and sagittal planes, with higher knee stability according to the pivot shift test but not the KT1000 arthrometer. Anatomical and clinical results reported in the literature on transtibial and anteromedial portal techniques are controversial, but most of studies report better results with the anteromedial portal technique, especially regarding rotational stability. The current cadaveric study showed that the anteromedial portal technique provided better tunnel placement on the lateral femoral condyle in the coronal and sagittal planes, with an improvement in the rotational stability of the knee.