Purpose: Current diagnostic testing for genetic disorders involves serial use of specialized assays spanning multiple technologies. In principle, whole genome sequencing (WGS) has the potential to detect all genomic mutation types on a single platform and workflow. Here we sought to evaluate copy number variant (CNV) calling as part of a clinically accredited WGS test.Methods: Using a depth-based copy number caller we performed analytical validation of CNV calling on a reference panel of 17 samples, compared the sensitivity of WGS-based variants to those from a clinical microarray, and set a bound on precision using orthogonal technologies. We developed a protocol for familybased analysis, annotation, filtering, visualization of WGS based CNV calls, and deployed this across a clinical cohort of 79 rare and undiagnosed cases.
Introduction: Knee osteoarthritis (OA) is a chronic, progressive degenerative disease with joint pain, stiffness, and deformity. Knee OA is a common joint disease, with an incidence of 30% of the population older than 60 years. High tibial osteotomy and total knee arthroplasty are the 2 commonly used methods for treating knee OA. Total knee Arthroplasty (TKA), which aims to relieve pain and improve joint function and mobility, primal fibular osteotomy (PFO) is the main surgical alternative in this patient population. Materials and Methods: From September 2017 to September 2019, the PFO was performed for patients presenting with medial compartment osteoarthritis. Preoperative and postoperative weight-bearing whole lower extremity radiographs were obtained to analyze the alignment of the lower extremity and the ratio of the knee joint spaces (medial/lateral compartment) were ascertained. Knee pain was assessed using a visual analog scale (VAS), and knee ambulation activities were evaluated using the Knee Society Score (KSS).Results: A total of 20 patients and 26 knees were followed-up for a minimum period of one year. Of these, 7 were male and 13 were female patient. The average age was 57 years. According to Kellgren Lawrence grading, there were 18 knees of grade 2 and 2 knees of grade 3. The average preoperational VAS score and KSS were 6.3 and 33.5 respectively. The average postoperative VAS score and KSS improved significantly to 2.8 (P<0.01) and 83.7 (p=0.002) respectively. The medial joint space opening has improved significantly from preoperatively 1.15mm to postoperatively 3.4mm. Conclusion : PFO is a promising alternative procedure in the management of medial compartment osteoarthritis of the knee being a simple and cost-effective alternative to the traditional total knee or unicondylar knee replacements. A longer period of follow-up is necessary to evaluate whether the beneficial effects of PFO are sustained over a period of time. This is an Open Access (OA) journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
: The inception of the COVID-19 pandemic has jeopardized humanity with markedly dampening of worldwide resources. The viral infection may present with varying signs and symptoms, imitating pneumonia and seasonal flu. With a gradual course, this may progress and result in the deadliest state of acute respiratory distress syndrome (ARDS) and acute lung injury (ALI). Moreover, following recovery from the severe brunt of COVID-19 infection, interstitial portions of alveoli have been found to undergo residual scarring and further to have compromised air exchange. Such alterations in the lung microenvironment and associated systemic manifestations have been recognized to occur due to the extensive release of cytokines. The mortality rate increases with advancing age and in individuals with underlying co-morbidity. Presently, there is no availability of specific antiviral therapy or any other definitive modality to counter this progressive worsening. However, we believe principles and advancing cell-based therapy may prove fruitful in subjugating such reported worsening in these patients. This article reviews eminent knowledge and relevant advancements about the amelioration of lung damage due to COVID-19 infection using adipose tissue-derived – total stromal fraction (TSF).
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