Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare coronary anomaly that can present in childhood or adulthood with a multitude of symptoms depending on the age of presentation. It should be suspected in infants presenting with heart failure in the setting of left ventricular systolic dysfunction and associated mitral regurgitation from papillary muscle ischemia. Adults with ALCAPA may present with cardiac ischemic symptoms.
View Article and Find Full Text PDFObjective: We aimed to develop a risk prediction model using a machine learning to predict survival and graft failure (GF) 5 years after orthotopic heart transplant (OHT).
Methods: Using the International Society of Heart and Lung Transplant (ISHLT) registry data, we analyzed 15,236 patients who underwent OHT from January 2005 to December 2009. 342 variables were extracted and used to develop a risk prediction model utilizing a gradient-boosted machine (GBM) model to predict the risk of GF and mortality 5 years after hospital discharge.
Eccrine angiomatous hamartoma (EAH) is a rare benign vascular hamartoma characterized histologically by an increased size and number of mature eccrine glands associated with multiple foci of dilated capillaries in the dermis and subcutis. EAH typically presents in children as discrete, solitary nodules, or plaques most commonly located on the extremities. Some cases of EAH have an agminated distribution involving classic locations, or present as solitary lesions in less common locations such as the face, scalp, or trunk.
View Article and Find Full Text PDFAncient DNA (aDNA) studies often rely on standard methods of mutation calling, optimized for high-quality contemporary DNA but not for excessive contamination, time- or environment-related damage of aDNA. In the absence of validated datasets and despite showing extreme sensitivity to aDNA quality, these methods have been used in many published studies, sometimes with additions of arbitrary filters or modifications, designed to overcome aDNA degradation and contamination problems. The general lack of best practices for aDNA mutation calling may lead to inaccurate results.
View Article and Find Full Text PDFp53 is an important tumor-suppressor protein that is mutated in more than 50% of cancers. Strategies for restoring normal p53 function are complicated by the oncogenic properties of mutant p53 and have not met with clinical success. To counteract mutant p53 activity, a variety of drugs with the potential to reconvert mutant p53 to an active wildtype form have been developed.
View Article and Find Full Text PDFCurrent human whole genome sequencing projects produce massive amounts of data, often creating significant computational challenges. Different approaches have been developed for each type of genome variant and method of its detection, necessitating users to run multiple algorithms to find variants. We present Genome Rearrangement OmniMapper (GROM), a novel comprehensive variant detection algorithm accepting aligned read files as input and finding SNVs, indels, structural variants (SVs), and copy number variants (CNVs).
View Article and Find Full Text PDFComparative genomics studies typically limit their focus to single nucleotide variants (SNVs) and that was the case for previous comparisons of woolly mammoth genomes. We extended the analysis to systematically identify not only SNVs but also larger structural variants (SVs) and indels and found multiple mammoth-specific deletions and duplications affecting exons or even complete genes. The most prominent SV found was an amplification of RNase L (with different copy numbers in different mammoth genomes, up to 9-fold), involved in antiviral defense and inflammasome function.
View Article and Find Full Text PDFContinuous loop cortical suspension devices have been demonstrated to be more consistent and biomechanically superior compared to adjustable loop devices; however, continuous loop devices present unique challenges compared to adjustable loop devices, especially in short tunnel reconstruction applications. Specifically, adjustable loop devices have the advantage of a "one size fits all" approach, and the ability to tension these devices following button flipping allows for the intratunnel graft length to be maximized. Nevertheless, the reliability of continuous loop devices has sustained their widespread use.
View Article and Find Full Text PDFAmplifications or deletions of genome segments, known as copy number variants (CNVs), have been associated with many diseases. Read depth analysis of next-generation sequencing (NGS) is an essential method of detecting CNVs. However, genome read coverage is frequently distorted by various biases of NGS platforms, which reduce predictive capabilities of existing approaches.
View Article and Find Full Text PDFBackground: In cases where the acetabular labrum is severely damaged and irreparable, labral reconstructions are becoming an increasingly preferred means of preserving the fluid seal effect of the labrum. However, the graft that most closely replicates the biomechanical properties of the native labrum remains undetermined.
Purpose: To characterize the tensile properties and geometry of the labrum, as well as iliotibial band, semitendinosus, gracilis, and anterior tibialis grafts.
Background: Posterior medial meniscal root tears have been reported to extrude with the meniscus becoming adhered posteromedially along the posterior capsule. While anatomic repair has been reported to restore tibiofemoral contact mechanics, it is unknown whether nonanatomic positioning of a meniscal root repair to a posteromedial location would restore the loading profile of the knee joint.
Purpose/hypothesis: The purpose of this study was to compare the tibiofemoral contact mechanics of a nonanatomic posterior medial meniscal tear with that of the intact knee or anatomic repair.
Background: Current techniques for resurfacing of the glenoid in the treatment of arthritis are unpredictable. Computed tomography (CT) studies have demonstrated that the medial tibial plateau has close similarity to the glenoid. The purpose of this study was to assess contact pressures of transplanted massive tibial osteochondral allografts to resurface the glenoid without and with CT matching.
View Article and Find Full Text PDFBackground: Several internal fixation surgical techniques have been described for the treatment of symptomatic os acromiale. The purpose of this study was to compare the biomechanical characteristics of different internal fixation techniques for the operative treatment of unstable meso-type os acromiale in a cadaveric model.
Methods: Testing was performed on 12 matched pairs of cadaveric acromia with simulated meso-type os acromiale.
Background: Humeral fracture after subpectoral tenodesis of the long head of biceps tendon (LHB) is a rare but devastating complication.
Purpose: To determine whether malpositioned (laterally eccentric) tenodesis screw placement has an influence on humerus strength reduction compared with central placement.
Study Design: Controlled laboratory study.
Background: The current standard for treating complete tears of the anterior cruciate ligament (ACL) is reconstruction, which requires reaming a tibial tunnel. Based on recent anatomic and biomechanical studies, this reconstruction tunnel may cause injuries to the anterior meniscal root attachments.
Purpose/hypothesis: The purpose was to determine if injuries occurred to the anteromedial (AM) and anterolateral (AL) meniscal root attachments because of reaming a tibial reconstruction tunnel in the anatomic center of the ACL footprint.
Background: Recent emphasis has turned to reconstructing the posterior cruciate ligament (PCL) after injury. However, single-bundle PCL reconstruction of the anterolateral bundle may potentially injure the posterior meniscal roots.
Purpose/hypothesis: The purpose of this study was to determine if posterior meniscal root injuries occurred because of tunnel reaming for single-bundle PCL reconstruction.
Background: Graft healing after soft tissue anterior cruciate ligament (ACL) reconstruction requires rigid fixation to allow for soft tissue healing. Cortical suspension devices for femoral fixation should be biomechanically tested under high loads representative of early rehabilitation to evaluate whether they provide sufficient fixation.
Purpose/hypothesis: To biomechanically compare current fixed-loop and adjustable-loop cortical suspension devices for soft tissue femoral fixation under high loads.
Background: A common treatment for posterior meniscal root tears is transtibial pull-out repair, which has been biomechanically reported to restore tibiofemoral contact mechanics to those of the intact knee. Biomechanical data suggest that there is significant displacement of the repaired meniscal root with cyclic loading, which may be responsible for the poor healing and meniscal extrusion demonstrated in some clinical studies.
Hypothesis/purpose: The purpose of this study was to quantify the time-zero displacement of the posterior meniscal root in response to cyclic loading after transtibial pull-out repair and to quantify the individual contributions to displacement of the following: (1) suture elongation, (2) button-bone interface, and (3) meniscus-suture interface.
Knee Surg Sports Traumatol Arthrosc
October 2015
Purpose: Counteracting posterior translation of the tibia with an anterior force on the posterior proximal tibia has been demonstrated clinically to improve posterior knee laxity following posterior cruciate ligament (PCL) injury. This study quantified forces applied to the posterior proximal tibia by two knee braces designed for treatment of PCL injuries.
Methods: The forces applied by two knee braces to the posterior proximal tibia and in vivo three-dimensional knee kinematics of six adult, male, healthy volunteer subjects (mean ± standard deviation: height, 182.
Robotic testing systems are commonly utilized for the study of orthopaedic biomechanics. Quantification of system error is essential for reliable use of robotic systems. Therefore, the purpose of this study was to quantify a 6-DOF robotic system's repeatability during knee biomechanical testing and characterize the error induced in passive path repeatability by removing and reinstalling the knee.
View Article and Find Full Text PDFBackground: Single- and double-row arthroscopic reconstruction techniques for acute bony Bankart lesions have been described in the literature.
Hypothesis: The double-row fixation technique would provide superior reduction and stability of a simulated bony Bankart lesion at time zero in a cadaveric model compared with the single-row technique.
Study Design: Controlled laboratory study.
Knee Surg Sports Traumatol Arthrosc
September 2015
Purpose: The purpose of this study was to determine the biomechanical effects of placing the biceps tenodesis stitch at the musculotendinous junction versus in the tendon only. Placing the stitch at the musculotendinous junction was hypothesized to result in a significantly weaker repair than stitching in the tendon only.
Methods: Testing was performed on two groups of six matched pairs of long head of the biceps (LHB) with enclosed musculotendinous junction and muscle belly.
Background: Current surgical techniques for meniscal root repair reattach the most prominent, dense portion of the meniscal root and fail to incorporate recently identified peripheral, supplemental attachment fibers. The contribution of supplemental fibers to the biomechanical properties of native meniscal roots is unknown.
Hypothesis/purpose: The purpose was to quantify the ultimate failure strengths, stiffness, and attachment areas of the native posterior medial (PM), posterior lateral (PL), anterior medial (AM), and anterior lateral (AL) meniscal roots compared with the most prominent, dense meniscal root attachment after sectioning of supplemental fibers.
Background: An avulsion of the posterior root attachment of the lateral meniscus or a radial tear close to the root attachment can lead to degenerative knee arthritis. Although the biomechanical effects of comparable injuries involving the medial meniscus have been studied, we are aware of no such study involving the lateral meniscus. We hypothesized that in situ pull-out suture repair of lateral meniscus root avulsions and of complete radial tears 3 and 6 mm from the root attachment would increase the contact area and decrease mean and peak tibiofemoral contact pressures, at all knee flexion angles, relative to the corresponding avulsion or tear condition.
View Article and Find Full Text PDFBackground: Lateral clavicle fractures have been reported after coracoclavicular (CC) ligament reconstructions with bone tunnels through the clavicle.
Purpose: To biomechanically compare clavicle strength following 2 common CC reconstruction techniques with different bone tunnel diameters.
Study Design: Controlled laboratory study.