Two siblings with an early onset of a neurodegenerative disease were presented with muscular hypotonia, secondary microcephaly, and severe developmental delay. Seizures were refractory to treatment but could be controlled with a ketogenic diet. Over the course of 5 years, whole exome sequencing (WES) was performed twice in both children. The first time the diagnosis was missed. The next one revealed compound heterozygous mutations in the gene coding for the tubulin folding cofactor D. Technical improvements in WES mandated a new investigation after a few years in children where the diagnosis has not been found.
Health care workers are at a higher risk of getting infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) than the general population. Knowledge about medical students' exposure to SARS-CoV-2 is lacking. Thus, we measured the prevalence of SARS-CoV-2 antibodies in a cohort of Danish medical students.

We invited all medical students at the University of Copenhagen (UCPH) to participate. Students underwent venous blood sampling and a questionnaire about work-life behaviors possibly associated with SARS-CoV-2 exposure and coronavirus disease 2019 (COVID-19) symptoms. Samples were analyzed for total immunoglobulin G (IgG) antibodies against SARS-CoV-2, and seropositive samples were screened for IgG, immunoglobulin M, and immunoglobulin A antibodies. We determined associations between seropositivity and clinical and social activities and self-reported symptoms.

Between October 19 and 26, 1120 students participated in the questionnaire and 1096 were included. Of all included, 379 (34.58%)UCPH, seropositivity was associated with social behavior markers and, to a lesser extent, with self-reported contact with SARS-CoV-2-infected patients.
Recent evidence suggests that there may be an increased risk of infection for patients undergoing a corticosteroid injection before, during, or after knee arthroscopy.

To systematically review the literature to evaluate the risk of postoperative infection in patients undergoing intra-articular corticosteroid injections (CSI) before, during, or after knee arthroscopy.

Systematic review; Level of evidence, 3.

A systematic review was performed by searching the PubMed, Cochrane Library, and Embase databases to identify studies that evaluated the rate of postoperative infection in patients undergoing knee arthroscopy who received an intra-articular CSI during the perioperative period. The search phrase used was "knee AND arthroscopy AND injection AND (infection OR revision)." A subanalysis was also performed to analyze infection rates based on the timing of the corticosteroid injection in relation to arthroscopy.

Four studies met the inclusion criteria, representing 11,925 patients undergoing knee arthroa corticosteroid injection pre- or intraoperatively may experience significantly higher rates of postoperative infection when compared with patients receiving an injection postoperatively.
Patients undergoing knee arthroscopy who receive an intra-articular CSI during the perioperative period can be expected to experience significantly higher postoperative infection rates when compared with patients not receiving an injection. Furthermore, patients receiving a corticosteroid injection pre- or intraoperatively may experience significantly higher rates of postoperative infection when compared with patients receiving an injection postoperatively.
The Anterior Cruciate Ligament Return to Sport After Injury (ACL-RSI) scale is a reliable and valid tool for evaluation of psychological readiness to return to sport after ACL injury, but its responsiveness to change has not been extensively evaluated.

To determine the responsiveness of the ACL-RSI scale.

Cohort study (diagnosis); Level of evidence, 2.

The ACL-RSI scale and the knee confidence question from the Knee injury and Osteoarthritis Outcome Score-Quality of Life subscale was completed at 6 and 12 months after ACL reconstruction surgery. Responsiveness was assessed using distribution and anchor-based methods for the full- and short-form versions of the scale and subgroup analyzed for sex. From distribution statistics, the standardized response mean (SRM) and the smallest detectable change (SDC) were calculated. Using the anchor-based method, the minimally important change (MIC) that was associated with an improvement in knee confidence was determined using receiver operating characteristic analysis.

A total of 441 patients (257 men, 184 women; mean age of 25 years) were included in this study. An SRM of 0.7 was found for both versions, indicating a moderate level of responsiveness. The MIC was 13.4 points for the full-form version and 15.1 points for the short-form version. These values were larger than SDC values at the group level but not at the individual patient level. Responsiveness was similar between male and female patients.

The ACL-RSI scale had sufficient responsiveness to investigate the efficacy of an intervention at a group level, but it may be more limited at an individual patient level.
The ACL-RSI scale had sufficient responsiveness to investigate the efficacy of an intervention at a group level, but it may be more limited at an individual patient level.
While the incidence of ulnar collateral ligament reconstruction (UCLR) has increased across all levels of play, few studies have investigated the long-term outcomes in nonprofessional athletes.

To determine the rate of progression to higher levels of play, long-term patient-reported outcomes (PROs), and long-term patient satisfaction in nonprofessional baseball players after UCLR.

Case series; Level of evidence, 4.

We evaluated UCLR patients who were nonprofessional baseball athletes aged <25 years at a minimum of 5 years postoperatively. Patients were assessed with the Kerlan-Jobe Orthopaedic Clinic Shoulder and Elbow Score (KJOC), the Timmerman-Andrews (T-A) Elbow score, the Mayo Elbow Performance Score (MEPS), and a custom return-to-play questionnaire.

A total of 91 baseball players met the inclusion criteria, and 67 (74%) patients were available to complete the follow-up surveys at a mean follow-up of 8.9 years (range, 5.5-13.9 years). At the time of the surgery, the mean age was 18.9 ± 1.9 yseball players after UCLR, there was a high rate of progression to higher levels of play. Long-term PRO scores and patient satisfaction were high. The large majority of patients who underwent UCLR would undergo surgery again at long-term follow-up, regardless of career advancement.
Patients and clinicians often struggle to choose the optimal management strategy for posttraumatic knee osteoarthritis (OA) after an anterior cruciate ligament (ACL) injury. An evaluation of radiographic outcomes after a decision-making and treatment algorithm applicable in clinical practice can help to inform future recommendations and treatment choices.

To describe and compare 5-year radiographic outcomes and knee pain in individuals who had gone through our decision-making and treatment algorithm and chosen (1) early (<6 months) ACL reconstruction (ACLR) with pre- and postoperative rehabilitation, (2) delayed (>6 months) ACLR with pre- and postoperative rehabilitation, or (3) progressive rehabilitation alone.

Cohort study; Level of evidence, 2.

We included 276 patients with unilateral ACL injury from a prospective cohort study. Patients chose management using a shared decision-making process and treatment algorithm, and 5-year postoperative radiographs of the index and contralateral knees werfferences in any radiographic outcomes or knee pain among the 3 management groups.

There were no statistically significant differences in any 5-year radiographic outcomes or knee pain among the 3 management groups. Very few of the patients who participated in our decision-making and treatment algorithm had knee OA or knee pain at 5 years.
There were no statistically significant differences in any 5-year radiographic outcomes or knee pain among the 3 management groups. Very few of the patients who participated in our decision-making and treatment algorithm had knee OA or knee pain at 5 years.
In a sheep rotator cuff model, tenotomy predominantly induces fatty infiltration, and denervation induces mostly muscle atrophy. In clinical practice, myotendinous retraction after tendon tear or lateralization after tendon repair tear may lead to traction injury of the nerve.

To analyze whether an additional nerve lesion during rotator cuff repair leads to further degeneration of the rotator cuff muscle in the clinical setting. We hypothesized that neurectomy after tendon tear would increase atrophy as well as fatty infiltration and that muscle paralysis after neurectomy would prevent myotendinous retraction after secondary tendon release.

Controlled laboratory study.

Twelve Swiss alpine sheep were used for this study. For the 6 sheep in the tenotomy/neurectomy (T/N) group, the infraspinatus tendon was released; 8 weeks later, the suprascapular nerve was transected. For the 6 sheep in the neurectomy/tenotomy (N/T) group, neurectomy was performed, and the infraspinatus was tenotomized 8 weeks later. Action but not with an increase of fatty infiltration to the level of the tenotomy first group.

Substantial retraction, which is associated with hitherto irrecoverable fatty infiltration, should be prevented, and additional neurogenic injury during repair should be avoided to limit the development of further atrophy.
Substantial retraction, which is associated with hitherto irrecoverable fatty infiltration, should be prevented, and additional neurogenic injury during repair should be avoided to limit the development of further atrophy.
Prospective studies evaluating second-look imaging of meniscus root repair using a transtibial pull-out technique are limited; therefore, optimal surgical indications and the technique for meniscus root repair remain uncertain.

It was hypothesized that there would be a high rate of healing, improvement in meniscal extrusion, and prevention of articular cartilage degeneration and subchondral bone abnormalities after meniscus root repair.

Case series; Level of evidence, 4.

Consecutive patients undergoing transtibial root repair were prospectively enrolled at 2 orthopaedic centers between March 2017 and January 2019. Pre- and postoperative magnetic resonance imaging (MRI) scans were reviewed by a musculoskeletal radiologist in a blinded fashion for meniscal healing, quantification of extrusion, articular cartilage grade, subchondral bone changes, and coronary/meniscotibial ligament abnormalities. Given persistent extrusion observed on postoperative MRI scans, an additional 10 patients gave consent and wef cartilage degeneration or subchondral bone abnormalities at the short-term follow-up. https://www.selleckchem.com/products/brr2-inhibitor-c9.html However, meniscal extrusion worsened in the first 6 months after surgery.

NCT03037242 (ClinicalTrials.gov identifier).
NCT03037242 (ClinicalTrials.gov identifier).
Comminuted inferior pole patellar fractures can be treated in numerous ways. To date, there have been no studies comparing the biomechanical properties of transosseous tunnels versus suture anchor fixation for partial patellectomy and tendon advancement of inferior pole patellar fractures.

Suture anchor repair will result in less gapping at the repair site. We also hypothesize no difference in load to failure between the groups.

Controlled laboratory study.

Ten cadaveric knee extensor mechanisms (5 matched pairs; patella and patellar tendon) were used to simulate a fracture of the extra-articular distal pole of the patella. The distal simulated fracture fragment was excised, and the patellar tendon was advanced and repaired with either transosseous bone tunnels through the patella or 2 single-loaded suture anchors preloaded with 1 suture per anchor. Load to failure and elongation from cycles 1 to 250 between 20 and 100 N of force were measured, and modes of failure were recorded. Statistical analysis was performed using a paired 2-tailed Student
test.