Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

We report 24 unrelated individuals with deletions and 17 additional cases with duplications at 10q11.21q21.1 identified by chromosomal microarray analysis. The rearrangements range in size from 0.3 to 12 Mb. Nineteen of the deletions and eight duplications are flanked by large, directly oriented segmental duplications of >98% sequence identity, suggesting that nonallelic homologous recombination (NAHR) caused these genomic rearrangements. Nine individuals with deletions and five with duplications have additional copy number changes. Detailed clinical evaluation of 20 patients with deletions revealed variable clinical features, with developmental delay (DD) and/or intellectual disability (ID) as the only features common to a majority of individuals. We suggest that some of the other features present in more than one patient with deletion, including hypotonia, sleep apnea, chronic constipation, gastroesophageal and vesicoureteral refluxes, epilepsy, ataxia, dysphagia, nystagmus, and ptosis may result from deletion of the CHAT gene, encoding choline acetyltransferase, and the SLC18A3 gene, mapping in the first intron of CHAT and encoding vesicular acetylcholine transporter. The phenotypic diversity and presence of the deletion in apparently normal carrier parents suggest that subjects carrying 10q11.21q11.23 deletions may exhibit variable phenotypic expressivity and incomplete penetrance influenced by additional genetic and nongenetic modifiers.     

Protective effect of curcumin on cypermethrin-induced oxidative stress in Wistar rats

The aim of present study was to investigate the protective effect of curcumin on cypermethrin-induced changes in blood biochemical markers and tissue antioxidant enzyme in rats. Rats were divided into six groups of six each: group I used as control and II and III groups were used as vehicle control. While, groups IV, V and VI were orally treated with curcumin (100 mg/kg body weight), cypermethrin (25 mg/kg body weight) and cypermethrin plus curcumin, respectively for 28 days. Serum biochemical markers were measured in the serum, and the levels of lipid peroxidation and antioxidant enzyme activity were determined in the liver, kidney and brain. Cypermethrin administration caused elevated level of blood biochemical markers in serum and lipid peroxidation in liver, kidney and brain. While the activities of non-enzymatic and enzymatic antioxidants levels were decreased except superoxide dismutase in liver, kidney and brain tissues. The presence of curcumin with cypermethrin significantly decreased the blood biochemical markers and lipid peroxidation but significantly increased the reduced glutathione, catalase and glutathione peroxidase level and preserved the normal histological architecture of the liver, kidney and brain. Our results indicate that curcumin can be potent protective agent against cypermethrin-induced biochemical alterations and oxidative damage in rats.     

Patients on HAART often have an excess of unintegrated HIV DNA: implications for monitoring reservoirs

HIV establishes a latent reservoir early in infection that is resistant to anti-retroviral therapy and has a slow rate of decay. It is thought that the majority of HIV DNA in treated patients is integrated since unintegrated HIV DNA appears to be unstable. Thus, to monitor the HIV latent reservoir, total HIV DNA is commonly measured in PBMC from infected individuals. We investigated how often total approaches integrated HIV DNA in treated patients. To do this, we first assessed how accurate our integration assay is and determined the error in our measurements of total and integrated HIV DNA. We demonstrated an excess of total over integrated HIV DNA was present in a subset of patients, suggesting that measurements of total HIV DNA do not always correlate to the level of integration. Determining the cause of this excess and its frequency may have important implications for understanding HIV latent reservoir maintenance.     

Resolution and noise trade-off analysis for volumetric CT

Until recently, most studies addressing the trade-off between spatial resolution and quantum noise were performed in the context of single-slice CT. In this study, we extend the theoretical framework of previous works to volumetric CT and further extend it by taking into account the actual shapes of the preferred reconstruction kernels. In the experimental study, we also attempt to explore a three-dimensional approach for spatial resolution measurement, as opposed to the conventional two-dimensional approaches that were widely adopted in previously published studies. By scanning a finite-sized sphere phantom, the MTF was measured from the edge profile along the spherical surface. Cases of different resolutions (and noise levels) were generated by adjusting the reconstruction kernel. To reduce bias, the total photon fluxes were matched: 120 kVp, 200 mA, and 1 s per gantry rotation. All data sets were reconstructed using a modified FDK algorithm under the same condition: Scan field-of-view (SFOV) = 10 cm, and slice thickness = 0.625 mm. The theoretical analysis indicated that the variance of noise is proportional to > 4th power of the spatial resolution. Our experimental results supported this conclusion by showing the relationship is 4.6th (helical) or 5th (axial) power.     

Androgen receptor gene and sex-specific Alzheimer's disease

Women are at a 2-fold risk of developing late-onset Alzheimer's disease (AD) (onset at 65 years of age or older) compared with men. During perimenopausal years, women undergo hormonal changes that are accompanied by metabolic, cardiovascular, and inflammatory changes. These all together have been suggested as risk factors for late-onset AD. However, not all perimenopausal women develop AD; we hypothesize that certain genetic factors might underlie the increased susceptibility for developing AD in postmenopausal women. We investigated the Androgen Receptor gene (AR) in a clinical cohort of male and female AD patients and normal control subjects by sequencing all coding exons and evaluating the length and distribution of the CAG repeat in exon 1. We could not establish a correlation between the repeat length, sex, and the disease status, nor did we identify possible pathogenic variants. AR is located on the X chromosome; to assess its role in AD, X-inactivation patterns will need to be studied to directly correlate the actual expressed repeat length to a possible sex-specific phenotypic effect.     

Methods of the National Athletic Treatment,Injury and Outcomes Network Surveillance Program (NATION-SP), 2014–2015 Through 2018–2019

BackgroundThe National Athletic Treatment, Injury and Outcomes Network Surveillance Program (NATION-SP) was established in 2011 to provide a comprehensive appraisal of injuries sustained by high school student-athletes who received services from athletic trainers (ATs). The purpose of this article is to update the surveillance methods of the NATION-SP for data reported during the 2014–2015 through 2018–2019 academic years.Surveillance System StructureThe NATION-SP used a rolling recruitment model to identify a convenience sample of US high schools with access to ATs. The ATs at participating institutions volunteered to contribute data via electronic medical records systems; common data elements were then pushed to and maintained by the Datalys Center for Sports Injury Research and Prevention. The ATs completed detailed reports on each injury, including the condition and circumstances. The treatments component was used to comprehensively assess the services provided to athletes by ATs. The outcomes companion component was developed to monitor patient-reported outcomes after athletic injury.SummaryThe NATION-SP continues to serve a critical purpose in informing injury-prevention and treatment efforts among high school athletes.     

Epidemiology of Injuries in National Collegiate Athletic Association Men's Ice Hockey: 2014–2015 Through 2018–2019

ContextThe National Collegiate Athletic Association has supported men''s ice hockey, a distinct sport that mandates high-velocity gamesmanship, since 1974.BackgroundInjury surveillance systems are designed to identify evolving injury trends and their temporal qualities. Continual monitoring of collegiate men''s ice hockey athletes remains essential.MethodsExposure and injury data collected in the National Collegiate Athletic Association Injury Surveillance Program from 2014–2015 through 2018–2019 were analyzed. Injury counts, rates, and proportions were used to describe injury characteristics, and injury rate ratios (IRR) were used to examine differential injury rates.ResultsThe overall injury rate was 7.65 per 1000 athlete-exposures. Injuries from competition occurred at a rate nearly 7 times that from practice injuries (IRR = 6.54, 95% CI = 6.08, 7.04). The most common specific injury diagnoses were concussions (9.6%), acromioclavicular sprains (7.3%), and medial collateral ligament tears (3.7%).SummaryInjury rates by event type and season segment were higher than previously reported. Contusions accounted for nearly a quarter of all injuries, and acromioclavicular sprain rates increased notably across the study period.     

Can noise reduction filters improve low-radiation-dose chest CT images? Pilot study

Effect of noise reduction filters on chest computed tomographic (CT) images acquired with 50% radiation dose reduction was evaluated. Two sets of images were acquired with multi-detector row CT at standard (220-280 mA) and 50% reduced (110-140 mA) tube current at the level of the carina. After postprocessing with six noise reduction filters, images were compared with baseline standard-dose images for noise, sharpness, and contrast in lungs, mediastinum, and chest wall. Quantitative image noise was measured in descending thoracic aorta. Modulation transfer functions were calculated from CT images of 50-microm wire. Noise reduction filters reduced image noise on low-radiation-dose chest CT images, with some compromise in image sharpness and contrast assessed qualitatively, and slightly altered modulation transfer function at higher spatial frequencies.     

Extracranial meningioma of the parapharyngeal space: report of a case and review of the literature

Parapharyngeal tumours are frequently encountered in clinical practice and are often difficult to diagnose upon clinical examination due to the anatomic complexity of the region. We report a rare case of extracranial meningioma of the parapharyngeal space in a patient with no history of von Recklinghausen's disease, family history of meningioma or central neurofibromatosis (NF-2). The purpose of this report is to reiterate and emphasize the role of CT and MRI in the diagnosis of parapharyngeal masses, and to describe the characteristic radiological features of extracranial meningiomas.     

Effect of compressive follower preload on the flexion-extension response of the human lumbar spine.

Traditional experimental methods are unable to study the kinematics of whole lumbar spine specimens under physiologic compressive preloads because the spine without active musculature buckles under just 120 N of vertical load. However, the lumbar spine can support a compressive load of physiologic magnitude (up to 1200 N) without collapsing if the load is applied along a follower load path. This study tested the hypothesis that the load-displacement response of the lumbar spine in flexion-extension is affected by the magnitude of the follower preload and the follower preload path. Twenty-one fresh human cadaveric lumbar spines were tested in flexion-extension under increasing compressive follower preload applied along two distinctly different optimized preload paths. The first (neutral) preload path was considered optimum if the specimen underwent the least angular change in its lordosis when the full range of preload (0-1200 N) was applied in its neutral posture. The second (flexed) preload path was optimized for an intermediate specimen posture between neutral and full flexion. A twofold increase in flexion stiffness occurred around the neutral posture as the preload was increased from 0 to 1200 N. The preload magnitude (400 N and larger) significantly affected the range of motion (ROM), with a 25% decrease at 1200 N preload applied along the neutral path. When the preload was applied along a path optimized for an intermediate forward-flexed posture, only a 15% decrease in ROM occurred at 1200 N. The results demonstrate that whole lumbar spine specimens can be subjected to compressive follower preloads of in vivo magnitudes while allowing physiologic mobility under flexion-extension moments. The optimized follower preload provides a method to simulate the resultant vector of the muscles that allow the spine to support physiologic compressive loads induced during flexion-extension activities.