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Most neoplasia-associated gene fusions are formed through the fusion of the 5′-part of one gene with the 3′-part of another. We here describe a unique mechanism, by which a part of the KMT2A gene through an insertion replaces part of the YAP1 gene. The resulting YAP1::KMT2A::YAP1 (YKY) fusion was verified by RT-PCR in three cases of sarcoma morphologically resembling sclerosing epithelioid fibrosa

Background: Pain is a common symptom of hemophilia that may adversely affect patients’ quality of life (QoL). Previous post hoc analyses of prophylaxis with recombinant factor IX Fc fusion protein (rFIXFc) have been published for adults and adolescents, demonstrating improvements in health-related QoL (HRQoL) when assessed by the haemophilia-specific QoL (HaemAQoL) questionnaire. Objective: To des

Dysregulated NLRP3 inflammasome activation drives a wide variety of diseases, while endogenous inhibition of this pathway is poorly characterised. The serum protein C4b-binding protein (C4BP) is a well-established inhibitor of complement with emerging functions as an endogenously expressed inhibitor of the NLRP3 inflammasome signalling pathway. Here, we identified that C4BP purified from human pla

Climate change affects the functioning of all of the components of food systems, often in ways that exacerbate existing predicaments and inequalities among regions of the world and groups in society. At the same time, food systems are a major cause of climate change, accounting for a third of all greenhouse gas (GHG) emissions. Therefore, food systems can and should play a much bigger role in clim

In this study I explore discourses of contraception and reproduction, which are drawn upon and reproduced in Swedish official online sources on contraceptive advice, through the theoretical frameworks of biomedicalization and reproductive justice. The analysis yielded three interwoven themes: 1) women in need of contraceptives have to balance discourses of exogenous hormones as both an “unnatural”

Rationale: Amyloid-β (Aβ) pathology is one of the earliest detectable brain changes in Alzheimer’s disease pathogenesis. In clinical practice, trained readers will visually categorise positron emission tomography (PET) scans as either Aβ positive or negative. However, adjunct quantitative analysis is becoming more widely available, where regulatory approved software can currently generate metrics

The Auditory Brainstem Response (ABR) can be used to measure the early temporal activity of the auditory system. A gapin- noise ABR has been developed to measure the electrophysiological response to auditory stimulation without attending to the task. In the present study, young adults passively listened to stimuli of various gap widths in separate sequences. In a single sequence, two identical 15

The purpose of this study was to use an electromyography (EMG) based muscle model to investigate the performance enhancement of stretch-shortening cycle (SSC) tasks at different elbow flexion-extension velocities. A torque motor was used to oscillate the forearms of seven healthy male subjects (23-40 years) during SSC and non-SSC contractions at four frequencies of movement (.58, 1.5, 2.4 and 3.3

The purpose of this study was to investigate postural control in women with and without premenstrual symptoms (PMS) in three hormonally verified phases of the menstrual cycle. Thirty-two women were recruited to participate in the study and 25 of these women were included in the results. Menstrual cycle phases were determined by sex hormone analyses in serum and LH detection in urine. A prospective

Neuromuscular control is critical for maintaining dynamic joint stability and mitigating the risk of anterior cruciate ligament (ACL) injury. Given the increased risk of ACL injury in females, sex-based differential muscle activation strategies are often associated with this risk. For example, the quadriceps-dominant muscle activation strategy sometimes observed in females has been discussed as a

Background: Sex-related neuromuscular differences have been linked to greater risk of anterior cruciate ligament injuries in females. Despite this, it remains unclear if sex-related differences are present after injury. This study sought to determine if sex differences are present in the functional roles of knee joint muscles in an anterior cruciate ligament deficient population. Methods: An isome

Background: Voluntary activation deficit of the quadriceps muscle group is a common symptom in populations with knee joint injury. Musculoskeletal modeling and simulations can improve our understanding of pathological conditions; however, they are mathematically complex which can limit their clinical application. A practical subject-specific modeling framework is introduced to evaluate knee extens

This commentary describes a program developed to help reduce the incidence of anterior cruciate ligament injuries in soccer players. The basic principles underlying the injury prevention protocol are described with respect to the proprioceptive control mechanisms at the knee joint. This is followed by a detailed description of the program.

Background: Females exhibit significantly greater incidence, prevalence, and severity of osteoarthritis (OA) compared to males. Despite known biological, morphological, and functional differences between males and females, there has been little sex-related investigation into sex-specific biomechanical and neuromuscular responses to OA. Objective: To identify sex-related differences in OA-affected

The purpose of this study was to describe neuromuscular and kinematic differences during failed and successful drop-vertical jumps in a pediatric population. Healthy young athletes (n = 32) completed single-leg drop vertical jump landings where the required landing leg was unanticipated. Trials were categorized as failed if the participant shifted their base of support during the landing. Joint ki

The modern rigid alpine ski boot has been associated with an increase in severe knee joint injuries. A new design that allows the rear portion of the upper cuff of the boot (rear spoiler) to open when a posterior directed force is applied to it (similar to when a skier falls back on the ski) is investigated. Motion analysis was combined with kinetic measures to estimate the shear and compressive f

This study investigated the clinical interpretation of three electromyographic (EMG) normalisation techniques to detect neuromuscular alterations in patients diagnosed with anterior cruciate ligament knee injury during treadmill walking. The EMG signal was normalised using the mean value during the gait cycles (MEA), the maximum value during the gait cycles (MAX), and a maximum voluntary isometric

Sex-related differences in neuromuscular activation have been previously identified and are thought to be an underlying contributor to the ACL injury mechanism. During dynamic tasks evaluating the role of muscle action as it relates to joint stability is difficult since individual muscle contributions to force generation are confounded by biomechanical factors of movement. The purpose of this stud

The auditory brainstem response (ABR) in tinnitus subjects has been extensively investigated over the last decade with the hopes of finding possible abnormalities related to the pathology. Despite this effort, the use of the ABR for tinnitus diagnosis or as an outcome measure is under debate. The present study reviewed published literature on ABR and tinnitus. The authors searched PubMed, MedLine,

Anterior cruciate ligament (ACL) injury rates in female adolescents are increasing. Irrespective of treatment options, approximately 1/3 will suffer secondary ACL injuries following their return to activity (RTA). Despite this, there are no evidence-informed RTA guidelines to aid clinicians in deciding when this should occur. The first step towards these guidelines is to identify relevant and feas