Search

This article, published in the journal Neuropediatrics, discusses a case study of a 12-year-old boy with drug-resistant autoimmune epilepsy caused by glutamate decarboxylase 1 (GAD65) antibodies. GAD65 antibodies are associated with autoimmune diseases and can also lead to neurological disorders such as autoimmune encephalitis and cerebellar ataxia. The patient's seizures were initially treated with medication but recurred, leading to confusion and amnesia. Aggressive immunotherapy, including intravenous methylprednisolone and immunoadsorption, along with the use of the GABA receptor modulator cenobamate, resulted in sustained resolution of symptoms. This case highlights the importance of early intervention and aggressive treatment for GAD65-mediated neurological disorders and suggests cenobamate as a promising treatment option for GAD65-associated autoimmune epilepsy. [Extracted from the article]

Background/aim: Autosomal recessive primary microcephaly (MCPH) is a rare and genetically heterogeneous group of disorders characterized by intellectual disability and microcephaly at birth, classically without further organ involvement. MCPH3 is caused by biallelic variants in the cyclin-dependent kinase 5 regulatory subunit-associated protein 2 gene CDK5RAP2. In the corresponding Cdk5rap2 mutant or Hertwig's anemia mouse model, congenital microcephaly as well as defects in the hematopoietic system, germ cells and eyes have been reported. The reduction in brain volume, particularly affecting gray matter, has been attributed mainly to disturbances in the proliferation and survival of early neuronal progenitors. In addition, defects in dendritic development and synaptogenesis exist that affect the excitation-inhibition balance. Here, we studied proteomic changes in cerebral cortices of Cdk5rap2 mutant mice., Material and Methods: We used large-gel two-dimensional gel (2-DE) electrophoresis to separate cortical proteins. 2-DE gels were visualized by a trained observer on a light box. Spot changes were considered with respect to presence/absence, quantitative variation and altered mobility., Result: We identified a reduction in more than 30 proteins that play a role in processes such as cell cytoskeleton dynamics, cell cycle progression, ciliary functions and apoptosis. These proteome changes in the MCPH3 model can be associated with various functional and morphological alterations of the developing brain., Conclusion: Our results shed light on potential protein candidates for the disease-associated phenotype reported in MCPH3., (© 2022 The Authors. Annals of Human Genetics published by University College London (UCL) and John Wiley & Sons Ltd.)

Introduction: Although various techniques can be used to repair gluteal tendon tears, the long-term outcome is unclear and published studies typically involve only a small number of patients. The goals of this study were to determine (1) if functional improvement can be obtained, (2) if the repairs are continuous based on MRI, and (3) which factors determine success., Hypothesis: Gluteus medius and minimus tears can be repaired effectively with an open double-row technique., Material and Methods: Seventy-three patients were operated on between 2003 and 2010. Of these patients, 67 (62 women, 5 men) were available for review consisting of functional clinical tests and MRI of the hip and pelvis. A double-row repair was performed on all tendon tears, no matter the type of injury. Age, body mass index (BMI), fatty degeneration and muscle atrophy were also evaluated to determine if these variables affected the outcome., Results: The average follow-up was 4.6 years (range 1-8). The pre-operative scores had improved at the last follow-up: (1) pain (VAS): 8.7 ± 1.1 versus 1.7 ± 2.7 at the follow-up, (P<0.001), (2) Lequesne index: 12.3 ± 2.6 versus 4.0 ± 4.0 at the follow-up, (P<0.001), (3) Harris Hip Score: 50.5 ± 8 versus 87.9 ± 15.5 at the follow-up, (P<0.001). There were 11 failures (16%) including two repeat tears that were reoperated successfully. In the other 56 patients, the MRI showed no signs of the initial tear or bursitis. Of the four factors (age, BMI, fatty degeneration, muscle atrophy) that were potential predictors of the outcome, only muscle atrophy had a negative impact on functional outcome (P<0.05)., Conclusion: Using an open double-row technique to repair gluteal tendon tears led to 85% of patients having good clinical results with significant improvement in symptoms and disappearance of abnormal findings on MRI. This technique can be used with all types of tendon tears, but should be performed before muscle atrophy sets in., Level of Proof: Level IV-retrospective study., (Copyright © 2014 Elsevier Masson SAS. All rights reserved.)

Introduction: The three prerequisites for a successful meniscal allograft are fixation, graft sizing and precise positioning. The goal of this study was to demonstrate that lateral meniscal allografts can be reliably positioned using a fully arthroscopic technique., Hypothesis: This surgical technique is feasible and results in good positioning of the meniscal graft., Material and Methods: Twelve fresh cadavers were used in the study. The meniscal graft implantation procedure was performed entirely by arthroscopy. The meniscal horns were fixed with screw-in suture anchors and the meniscal border was fixed to the capsule by arthroscopic meniscus-capsule sutures. The main outcome measure of good implant positioning was based on the distance between the implanted location of the posterior horn of the lateral meniscus (PHLM) and its original location. To accomplish this, aerial photographs of the tibial plateau were used to compare the insertion zones and to calculate the distance between them. These measurements were performed by two surgeons and then compared., Results: Eleven of the 12 procedures (92%) were performed successfully. The posterior horn of the lateral meniscus was positioned an average of 4.3mm in the medial-lateral axis and 1.7 mm in the anterior-posterior axis away from its original location. Thus the position of the implanted PHLM was on average 4.6mm away from its original location., Discussion: This fully arthroscopic technique is feasible. It offers the advantages associated with minimally-invasive surgery and results in good positioning of the posterior horn of the allograft. Two limitations of this study are that the size of the implant was not matched and the chosen fixation method was not subjected to biomechanical evaluation. The lack of a tibial tunnel will make it easier to combine this procedure with ACL reconstruction. In these conditions, the clinical application of this technique seems to be timely., Level of Proof: IV - Controlled experimental study., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)