536 research outputs found

    Following the LINEs: An analysis of primate genomic variation at human-specific LINE-1 insertion sites

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    The L1 Ta subfamily of long interspersed elements (LINEs) consists exclusively of human-specific L1 elements. Polymerase chain reaction-based screening in nonhuman primate genomes of the orthologous sites for 249 human L1 Ta elements resulted in the recovery of various types of sequence variants for approximately 12% of these loci. Sequence analysis was employed to capture the nature of the observed variation and to determine the levels of gene conversion and insertion site homoplasy associated with LINE elements. Half of the orthologous loci differed from the predicted sizes due to localized sequence variants that occurred as a result of common mutational processes in ancestral sequences, often including regions containing simple sequence repeats. Additional sequence variation included genomic deletions that occurred upon L1 insertion, as well as successive mobile element insertions that accumulated within a single locus over evolutionary time. Parallel independent mobile element insertions at orthologous loci in distinct species may introduce homoplasy into retroelement-based phylogenetic and population genetic data. We estimate the overall frequency of parallel independent insertion events at L1 insertion sites in seven different primate species to be very low (052%). In addition, no cases of insertion site homoplasy involved the integration of a second L1 element at any of the loci, but rather largely involved secondary insertions of Alu elements. No independent mobile element insertion events were found at orthologous loci in the human and chimpanzee genomes. Therefore, L1 insertion polymorphisms appear to be essentially homoplasy free characters well suited for the study of population genetics and phylogenetic relationships within closely related species

    Reasons for cessation of clean intermittent catheterization after spinal cord injury: Results from the Neurogenic Bladder Research Group spinal cord injury registry

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    IntroductionClean intermittent catheterization (CIC) is recommended for bladder management after spinal cord injury (SCI) since it has the lowest complication rate. However, transitions from CIC to other less optimal strategies, such as indwelling catheters (IDCs) are common. In individuals with SCI who stopped CIC, we sought to determine how individual characteristics affect the bladder‐related quality of life (QoL) and the reasons for CIC cessation.MethodsThe Neurogenic Bladder Research Group registry is an observational study, evaluating neurogenic bladder‐related QoL after SCI. From 1479 participants, those using IDC or urinary conduit were asked if they had ever performed CIC, for how long, and why they stopped CIC. Multivariable regression, among participants discontinuing CIC, established associations between demographics, injury characteristics, and SCI complications with bladder‐related QoL.ResultsThere were 176 participants who had discontinued CIC; 66 (38%) were paraplegic and 110 (63%) were male. The most common reasons for CIC cessation among all participants were inconvenience, urinary leakage, and too many urine infections. Paraplegic participants who discontinued CIC had higher mean age, better fine motor scores, and lower educational attainment and employment. Multivariable regression revealed years since SCI was associated with worse bladder symptoms (neurogenic bladder symptom score), ≥4 urinary tract infections (UTIs) in a year was associated with worse satisfaction and feelings about bladder symptoms (SCI‐QoL difficulties), while tetraplegia was associated better satisfaction and feelings about bladder symptoms (SCI‐QoL difficulties).ConclusionsTetraplegics who have discontinued CIC have an improved QoL compared with paraplegics. SCI individuals who have discontinued CIC and have recurrent UTIs have worse QoL.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/153674/1/nau24172_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/153674/2/nau24172.pd

    Predictors of low urinary quality of life in spinal cord injury patients on clean intermittent catheterization

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    ObjectiveClean intermittent catheterization (CIC) is a preferred method of bladder management for many patients with spinal cord injury (SCI), but long‐term adherence is low. The aim of this study is to identify factors associated with low urinary quality of life (QoL) in SCI adults performing CIC.MethodsOver 1.5 years, 1479 adults with SCI were prospectively enrolled through the Neurogenic Bladder Research Group registry, and 753 on CIC with no prior surgeries were included. Injury characteristics, complications, hand function, and Neurogenic Bladder Symptom Score (NBSS) were analyzed. The NBSS QoL question (overall satisfaction with urinary function) was dichotomized to generate comparative groups (dissatisfied vs neutral/satisfied).ResultsThe cohort was 32.9% female with a median age of 43.2 (18‐86) years, time since the injury of 9.8 (0‐48.2) years, and 69.0% had an injury at T1 or below. Overall 36.1% were dissatisfied with urinary QoL. On multivariable analysis, female gender (odds ratio [OR], 1.63; 95% confidence interval [CI], 1.15‐2.31; P = 0.016), earlier injury (OR, 0.95 per year; 95% CI, 0.93‐0.97; P < 0.001), ≥4 urinary tract infections (UTIs) per year (OR, 2.36; 95% CI, 1.47‐3.81; P = 0.001), and severe bowel dysfunction (OR, 1.42; 95% CI, 1.02‐1.98; P = 0.035) predicted dissatisfaction. Level of injury, fine motor hand function, and caregiver dependence for CIC were not associated with dissatisfaction.ConclusionsIn a mature SCI cohort, physical disability does not predict dissatisfaction with urinary QoL but severe bowel dysfunction and recurrent UTIs have a significant negative impact. With time the rates of dissatisfaction decline but women continue to be highly dissatisfied on CIC and may benefit from early intervention to minimize the burden of CIC on urinary QoL.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/149763/1/nau23983.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/149763/2/nau23983_am.pd

    Gunshot wounds to the penis and scrotum : a narrative review of management in civilian and military settings

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    CITATION: Goldman, Charlotte et al. 2021. Gunshot wounds to the penis and scrotum : a narrative review of management in civilian and military settings. Translational Andrology and Urology, 10(6):2596-2608, doi:10.21037/tau-20-1175.The original publication is available at: https://pubmed.ncbi.nlm.nih.govENGLISH ABSTRACT: Gunshot wounds (GSW) to the penis and scrotum are present in two thirds of all genitourinary (GU) trauma, with a growing proportion of blast injuries in the military setting. Depending on the energy of the projectile, the injury patterns present differently for military and civilian GSWs. In this review, we sought to provide a detailed overview of GSWs to the external genitalia, from mechanisms to management. We examine how ballistic injury impacts tissues, as well as the types of injuries that occur, and how to assess these injuries to the external genitalia. If there is concern for injury to the deep structures of the penis or scrotum, operative exploration and repair is warranted. Relevant history and physical examination, role of imaging, and choice of conservative or surgical treatment options in the civilian and military setting are discussed, as well as guidelines for management set forth by the American Urological Association (AUA) and European Association of Urology (EAU).Publisher's versio

    Fuzzy Spheres in pp Wave Matrix String Theory

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    The behaviour of matrix string theory in the background of a type IIA pp wave at small string coupling, g_s << 1, is determined by the combination M g_s where M is a dimensionless parameter proportional to the strength of the Ramond-Ramond background. For M g_s << 1, the matrix string theory is conventional; only the degrees of freedom in the Cartan subalgebra contribute, and the theory reduces to copies of the perturbative string. For M g_s >> 1, the theory admits degenerate vacua representing fundamental strings blown up into fuzzy spheres with nonzero lightcone momenta. We determine the spectrum of small fluctuations around these vacua. Around such a vacuum all N-squared degrees of freedom are excited with comparable energies. The spectrum of masses has a spacing which is independent of the radius of the fuzzy sphere, in agreement with expected behaviour of continuum giant gravitons. Furthermore, for fuzzy spheres characterized by reducible representations of SU(2) and vanishing Wilson lines, the boundary conditions on the field are characterized by a set of continuous angles which shows that generically the blown up strings do not ``close''.Comment: 45 pages REVTeX 4 and AMSLaTeX. 1 figure. v2: references added. Figure redrawn using LaTe
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