Project description:We present an evidence-based approach to optimize the biologic incorporation of osteochondral allografts: (1) The donor graft is gradually rewarmed to room temperature to reverse the metabolic suppression from cold storage. (2) The graft is harvested while submerged in saline to limit thermal necrosis. (3) Subchondral bone depth is preferred at 4 to 6 mm depth (total plug depth ∼5-8 mm including articular cartilage) to reduce graft immunogenicity and to promote incorporation. (4) The bone is prepared with grooves/beveling to decrease impaction forces, increase access to subchondral deep zones during preparation, and promote graft-host interface healing. (5) High-pressure pulsed lavage is used to reduce antigenicity by removing marrow elements. (6) Pressurized carbon dioxide following pulsed lavage further reduces marrow elements and improves graft porosity for orthobiologic incorporation. (7) Orthobiologic substances (e.g., concentrated bone marrow aspirate) may enhance incorporation on imaging and result in greater osteogenic potential. (8) A suture is placed behind the graft to facilitate removal and repositioning; atraumatic graft insertion without high impaction forces maintains chondrocyte viability. These evidence-based pearls for osteochondral allograft handling optimize metabolic activity, reduce thermal necrosis, reduce antigenicity with removal of marrow elements, enhance biologic potential, and maintain chondrocyte viability to optimize biologic healing and clinical success.
Project description:Introduction: Adult polyglucosan body disease (APBD) has long been regarded as the adult-onset form of glycogen storage disease type IV (GSD IV) and is caused by biallelic pathogenic variants in GBE1. Advances in the understanding of the natural history of APBD published in recent years have led to the use of discrete descriptors ("typical" versus "atypical") based on adherence to traditional symptomatology and homozygosity for the p.Y329S variant. Although these general descriptors are helpful in summarizing common findings and symptoms in APBD, they are inherently limited and may affect disease recognition in diverse populations. Methods: This case series includes three American patients (cases 1-3) and four Brazilian patients (cases 4-7) diagnosed with APBD. Patient-reported outcome (PRO) measures were employed to evaluate pain, fatigue, and quality of life in cases 1-3. Results: We describe the clinical course and diagnostic odyssey of seven cases of APBD that challenge the utility and efficacy of discrete descriptors. Cases 1-3 are compound heterozygotes that harbor the previously identified deep intronic variant in GBE1 and presented with "typical" APBD phenotypically, despite lacking two copies of the pathogenic p.Y329S variant. Patient-reported outcome measures in these three cases revealed the moderate levels of pain and fatigue as well as an impacted quality of life. Cases 4-7 have unique genotypic profiles and emphasize the growing recognition of presentations of APBD in diverse populations with broad neurological manifestations. Conclusion: Collectively, these cases underscore the understanding of APBD as a spectrum disorder existing on the GSD IV phenotypic continuum. We draw attention to the pitfalls of commonly used genetic testing methods when diagnosing APBD and highlight the utility of patient-reported outcome questionnaires in managing this disease.
Project description:This manuscript does a review of the more frequent issues published at Autoimmunity Reviews, Journal of Autoimmunity and Autoimmunity in the period of January-December 2009. The following topics were commented: (1) multiple sclerosis (MS) and its relationships with Epstein Barr infection, with vitamin D polymorphism and the new modalities of MS treatment. (2) Type 1 diabetes and genetic discovers, studies with GAD 65 and IA-2 autoantigen and the association T1D and autoimmune organ-specific diseases. (3) Autoimmune thyroid disorders and its association with susceptibility genes and polymorphisms. (4) Multiplex autoantibody profiling approaches in MS and rheumatoid arthritis. (5) Th17 cytokine in primary biliary cirrhosis, experimental autoimmune encephalomyelitis and celiac disease. (6) Vitamin D and experimental autoimmune prostatitis and pulmonary alveolar proteinosis.