Effects of ACL Reconstruction Surgery on Vertical Jump

Anterior cruciate ligament (ACL) injuries are one of the most common injuries involving lower extremities among athletes. Due to the severity of the injury and the invasive procedure in reconstructing the ligament, ACL injuries can have a significant impact on muscular strength, flexibility, and endurance. The purpose of this study was to examine differences in ground reaction force (GRF) between lower extremities of subjects who have undergone unilateral ACL reconstructive surgery. Of particular interest is the subjects’ predisposal to future injuries resulting from significant disparities of produced forces between lower extremities and, consequently, the resulting disruption of the body’s kinetic chain. Ten collegiate athletes (n=10) were used for the study: Five having undergone no prior surgery involving lower extremities (control group) and five having undergone unilateral ACL reconstructive surgery (experimental group). Tests were conducted in the Biomechanics’ Laboratory using the force plate to measure GRF (Newtons). Each subject completed a total of 10 vertical jumps: Five jumps were completed with only one leg on the force plate for measurement (GRF), and then five jumps were completed with only the opposite leg on the force plate for measurement (GRF). For the experimental group, the reconstructed leg was tested first, ruling out fatigue as a contributor for the expected decreased force production. Upon completion, subject’s jumps were averaged and combined with their respective groups. A grand mean then was calculated for each group and used for discussion of results. Obtained data exhibited significant differences of force produced between surgically repaired and non-surgically repaired extremities. For the control group, differences were minimal on both the upward and downward phase of the jump, with an average disparity of 5 percent and 7 percent, respectively. For the experimental group, however, the non-reconstructed extremity demonstrated significantly more force on both the upward and downward phase of the jump, with an average disparity of 130 percent and 140 percent, respectively. It can be assumed these imbalances are not only occurring during explosive movements such as the vertical jump; yet, they occur during everyday activities such as walking, standing, sitting, etc. When dealing with such imbalances, the body makes compensatory changes that disrupt the body’s kinetic chain. Over time, these disruptions can manifest into chronic injuries resulting from muscular strength and flexibility imbalances, improper movement patterns, and postural deviations—not to mention, the probability of a traumatic injury also is greatly increased due to the aforementioned problems

Correction to: Evidence-Based Practices for Children, Youth, and Young Adults with Autism: Third Generation

Correction to the article "Evidence-Based Practices for Children, Youth, and Young Adults with Autism: Third Generation Review." The original article can be found online at https://doi.org/10.1007/ s10803-020-04844-2.Autism Spectrum Disorde

AAV6-mediated Systemic shRNA Delivery Reverses Disease in a Mouse Model of Facioscapulohumeral Muscular Dystrophy

Treatment of dominantly inherited muscle disorders remains a difficult task considering the need to eliminate the pathogenic gene product in a body-wide fashion. We show here that it is possible to reverse dominant muscle disease in a mouse model of facioscapulohumeral muscular dystrophy (FSHD). FSHD is a common form of muscular dystrophy associated with a complex cascade of epigenetic events following reduction in copy number of D4Z4 macrosatellite repeats located on chromosome 4q35. Several 4q35 genes have been examined for their role in disease, including FRG1. Overexpression of FRG1 causes features related to FSHD in transgenic mice and the FRG1 mouse is currently the only available mouse model of FSHD. Here we show that systemic delivery of RNA interference expression cassettes in the FRG1 mouse, after the onset of disease, led to a dose-dependent long-term FRG1 knockdown without signs of toxicity. Histological features including centrally nucleated fibers, fiber size reduction, fibrosis, adipocyte accumulation, and inflammation were all significantly improved. FRG1 mRNA knockdown resulted in a dramatic restoration of muscle function. Through RNA interference (RNAi) expression cassette redesign, our method is amenable to targeting any pathogenic gene offering a viable option for long-term, body-wide treatment of dominant muscle disease in humans

HNF1α inhibition triggers epithelial-mesenchymal transition in human liver cancer cell lines

<p>Abstract</p> <p>Background</p> <p>Hepatocyte Nuclear Factor 1α (HNF1α) is an atypical homeodomain-containing transcription factor that transactivates liver-specific genes including albumin, α-1-antitrypsin and α- and β-fibrinogen. Biallelic inactivating mutations of <it>HNF1A </it>have been frequently identified in hepatocellular adenomas (HCA), rare benign liver tumors usually developed in women under oral contraceptives, and in rare cases of hepatocellular carcinomas developed in non-cirrhotic liver. HNF1α-mutated HCA (H-HCA) are characterized by a marked steatosis and show activation of glycolysis, lipogenesis, translational machinery and mTOR pathway. We studied the consequences of HNF1α silencing in hepatic cell lines, HepG2 and Hep3B and we reproduced most of the deregulations identified in H-HCA.</p> <p>Methods</p> <p>We transfected hepatoma cell lines HepG2 and Hep3B with siRNA targeting HNF1α and obtained a strong inhibition of HNF1α expression. We then looked at the phenotypic changes by microscopy and studied changes in gene expression using qRT-PCR and Western Blot.</p> <p>Results</p> <p>Hepatocytes transfected with HNF1α siRNA underwent severe phenotypic changes with loss of cell-cell contacts and development of migration structures. In HNF1α-inhibited cells, hepatocyte and epithelial markers were diminished and mesenchymal markers were over-expressed. This epithelial-mesenchymal transition (EMT) was related to the up regulation of several EMT transcription factors, in particular <it>SNAIL </it>and <it>SLUG</it>. We also found an overexpression of TGFβ1, an EMT initiator, in both cells transfected with HNF1α siRNA and H-HCA. Moreover, TGFβ1 expression is strongly correlated to HNF1α expression in cell models, suggesting regulation of TGFβ1 expression by HNF1α.</p> <p>Conclusion</p> <p>Our results suggest that HNF1α is not only important for hepatocyte differentiation, but has also a role in the maintenance of epithelial phenotype in hepatocytes.</p

Rapid and objective assessment of neural function in autism spectrum disorder using transient visual evoked potentials

OBJECTIVE: There is a critical need to identify biomarkers and objective outcome measures that can be used to understand underlying neural mechanisms in autism spectrum disorder (ASD). Visual evoked potentials (VEPs) offer a noninvasive technique to evaluate the functional integrity of neural mechanisms, specifically visual pathways, while probing for disease pathophysiology. METHODS: Transient VEPs (tVEPs) were obtained from 96 unmedicated children, including 37 children with ASD, 36 typically developing (TD) children, and 23 unaffected siblings (SIBS). A conventional contrast-reversing checkerboard condition was compared to a novel short-duration condition, which was developed to enable objective data collection from severely affected populations who are often excluded from electroencephalographic (EEG) studies. RESULTS: Children with ASD showed significantly smaller amplitudes compared to TD children at two of the earliest critical VEP components, P60-N75 and N75-P100. SIBS showed intermediate responses relative to ASD and TD groups. There were no group differences in response latency. Frequency band analyses indicated significantly weaker responses for the ASD group in bands encompassing gamma-wave activity. Ninety-two percent of children with ASD were able to complete the short-duration condition compared to 68% for the standard condition. CONCLUSIONS: The current study establishes the utility of a short-duration tVEP test for use in children at varying levels of functioning and describes neural abnormalities in children with idiopathic ASD. Implications for excitatory/inhibitory balance as well as the potential application of VEP for use in clinical trials are discussed

Sex Differences in Social Participation of High School Students with Autism Spectrum Disorder

There is lack of consensus in the literature regarding sex differences in social outcomes for individuals on the autism spectrum. Furthermore, little research has focused on the social experiences of high school students with autism spectrum disorder (ASD) during the school day. Using a large racially/ethnically diverse sample of high school students with ASD receiving special education services (n = 547; 76 females, 471 males), we examined sex differences in social interactions of youth both during and after school. We also tested for sex differences in background and phenotypic characteristics including autism severity, IQ, adaptive behavior, and mental health. Results indicated few statistically significant differences between males and females in social interactions and phenotypic characteristics (including raw scores of autism symptom severity). However, analysis of standardized scores of autism symptoms suggested that symptom scores for females with ASD diverged more from same-sex peers in the normed sample than scores of males with ASD. Lack of sex difference in social participation for youth with ASD in this study stands in contrast to patterns of sex differences in the general population. Findings suggest that few differences between males and females with ASD, both in social participation and autism symptom severity, might result in females with ASD being more dissimilar to their same-sex peers than males with ASD. Implications of findings for understanding sex differences in ASD across the life course are discussed. LAY SUMMARY: The present study examined sex differences in social participation in a large, diverse sample of high school students with autism spectrum disorder (ASD). Males and females were very similar in their social interactions both at school and outside of school, based on reports by teachers and parents. Level of autism symptoms was also similar for males and females. However, standardized scores of autism symptoms, which take into account age and sex specific norms, suggested that females with ASD may have behaviors that are more divergent from their same-sex peers than males with ASD

Associations between HIV, antiretroviral therapy and preterm birth in the US Women's Interagency HIV Study, 1995-2018: a prospective cohort

To evaluate the associations of HIV infection with preterm birth (PTB), and of HIV antiretroviral therapy (ART) with PTB. We analysed singleton live-born pregnancies among women from 1995 to 2019 in the Women's Interagency HIV Study, a prospective cohort of US women with, or at risk for, HIV. The primary exposures were HIV status and ART use before delivery [none, monotherapy or dual therapy, or highly active antiretroviral therapy (HAART)]. The primary outcome was PTB < 34 weeks, and, secondarily, < 28 and < 37 weeks. We analysed self-reported birth data, and separately modelled the associations between HIV and PTB, and between ART and PTB, among women with HIV. We used modified Poisson regression, and adjusted for age, race, parity, tobacco use and delivery year, and, when modelling the impact of ART, duration from HIV diagnosis to delivery, nadir CD4 count, and pre-pregnancy viral load and CD4 count. We analysed 488 singleton deliveries (56% exposed to HIV) to 383 women. The risk of PTB < 34 weeks was similar among women with and without HIV, but the risk of PTB < 37 weeks was higher [32% vs. 23%; adjusted risk ratio (aRR) = 1.43; 95% confidence interval (CI): 1.07-1.91] among women with HIV. The risk of PTB < 34 weeks was lower among women with HIV receiving HAART than among those receiving no ART (7% vs. 26%; aRR:0.19; 95% CI: 0.08-0.44). The associations between HAART and PTB < 28 and < 37 weeks were similar. Antiretroviral therapy exposure was associated with a decreased risk of PTB among a US cohort of women with HIV. Given the growing concerns about ART and adverse pregnancy outcomes, this finding that ART may be protective for PTB is reassuring