The Muller F element (4.2 Mb, ~80 protein-coding genes) is an unusual autosome of Drosophila melanogaster; it is mostly heterochromatic with a low recombination rate. To investigate how these properties impact the evolution of repeats and genes, we manually improved the sequence and annotated the genes on the D. erecta, D. mojavensis, and D. grimshawi F elements and euchromatic domains from the Muller D element. We find that F elements have greater transposon density (25–50%) than euchromatic reference regions (3–11%). Among the F elements, D. grimshawi has the lowest transposon density (particularly DINE-1: 2% vs. 11–27%). F element genes have larger coding spans, more coding exons, larger introns, and lower codon bias. Comparison of the Effective Number of Codons with the Codon Adaptation Index shows that, in contrast to the other species, codon bias in D. grimshawi F element genes can be attributed primarily to selection instead of mutational biases, suggesting that density and types of transposons affect the degree of local heterochromatin formation. F element genes have lower estimated DNA melting temperatures than D element genes, potentially facilitating transcription through heterochromatin. Most F element genes (~90%) have remained on that element, but the F element has smaller syntenic blocks than genome averages (3.4–3.6 vs. 8.4–8.8 genes per block), indicating greater rates of inversion despite lower rates of recombination. Overall, the F element has maintained characteristics that are distinct from other autosomes in the Drosophila lineage, illuminating the constraints imposed by a heterochromatic milieu.
ABBREVIATIONS AISASIA Impairment Scale DVT Deep venous thrombosis SCI Spinal cord injury SCIWORA Spinal cord injury without radiological abnormalities AIM To determine the epidemiology and complications of spinal cord injuries (SCIs) in children injured at 5 years of age and younger who were seen between 1981 and 2008 at a children's hospital in the USA.METHOD Complications studied were scoliosis, hip dysplasia, latex allergies, autonomic dysreflexia, pressure ulcers, spasticity, deep venous thrombosis, and kidney stones. Demographic and injury-related factors included age at injury, etiology, level of injury, American Spinal Injury Association Impairment Scale (AIS), and SCIs without radiological abnormalities (SCIWORA). RESULTSOf the 159 individuals seen (92 males, 67 females) median age at injury was 2 years (range 0y-5y 11mo). Forty-nine percent were injured in vehicular accidents, 60% had complete injuries, 66% had paraplegia, and 72% had SCIWORA. Ninety-six percent developed scoliosis, 57% had hip dysplasia, and 7% had latex allergy. Thirty-four percent with injuries at or above T6 experienced autonomic dysreflexia, 41% developed pressure ulcers, and 61% experienced spasticity. Of those without bowel or bladder control, 82% were on intermittent catheterization and 69% were on a bowel program. Median age of initiating wheelchair use was 3 years 4 months (range 1y 2mo-12y 5mo). Twenty-four were community ambulators, and they were more likely to have AIS D lesions (half the key muscle functions below the level of injury have a muscle grade 3 or greater) and less likely to have skeletal complications. INTERPRETATIONThe epidemiology, complications, and manifestations of SCIs in children injured at a young age are unique and differ distinctively from adolescent and adult-onset SCIs.Spinal cord injuries (SCIs) are an uncommon occurrence in children aged 5 years and younger but can have a devastating effect on the children and their families. The impact of an SCI in all spheres of life in such young children is immense in view of their relatively long life span and the mutual interaction of SCIs and growth and development. Younger children have relatively unique etiologies for their SCI, such as lap belt or birth injuries, and unique pathophysiology of their injuries, including SCIs without radiographic abnormalities (SCIWORA). Compared with adults and adolescents, younger children who sustain SCIs are more likely to have paraplegia or complete injuries. 1,2 Children who sustain an SCI at a young age are at high risk of a variety of complications such as scoliosis and hip dysplasia.2 In addition, because of their young age at injury and relatively long lifespan, they will most likely be at risk for a variety of aging-related complications throughout their life, including overuse syndromes and cardiovascular disease. 3,4 The purpose of this study is to describe injury-related factors, demographic information, and the incidence of secondary complications that develop in children who sustained an SCI at 5 years of ag...
Background:Mobility is an important aspect of the rehabilitation of children with spinal cord injury (SCI), is a necessary component of life, and is critical in a child's development. Depending upon the individual's age and degree of neurological impairment, the nature of mobility may vary. Objectives: The objective of this article is to establish recommendations surrounding the selection of mobility for children with SCI. Methods: Extensive literature review and multidisciplinary peer review. Results: Types of mobility including power, manual, upright, and community are discussed, and recommendations are made based on medical necessity, neurological level, ASIA Impairment Scale score, and developmental considerations and challenges. Conclusion: Mobility is critical for proper development to occur in the pediatric population, and it may be challenging to make recommendations for mobility in children with SCI. It is essential for clinicians providing care to children with SCI to address mobility in a comprehensive and longitudinal manner across the children's environments.
Objective: To delineate the natural history of ambulation of children and youth with spinal cord injuries (SCIs).Design: Retrospective single-center.Participants/Methods: One hundred sixty-nine subjects who sustained SCI at 18 years of age or younger and who were followed up for at least 4 years.Results: Ambulation was significantly associated with age at injury and neurological impairment but not gender. Younger age at injury was associated with greater likelihood of ambulation, higher level of ambulation, and greater duration of ambulation. Lesser severity of neurological impairment was associated with greater likelihood of ambulation. Excluding ASIA D lesions, household ambulation was noted in 5% of subjects with tetraplegic, 26% with high thoracic, 30% with low thoracic, 44% with upper lumbar, and 33% with lower lumbar lesions. Of the 7 community-level ambulators with non-ASIA D lesions, none had cervical or high thoracic injuries, 3 had low thoracic, 1 had upper lumbar, and 3 had lower lumbar lesions. Using multiple regression analysis, predictive factors for ambulation were younger age at injury, total ASIA motor score, and ASIA impairment scale score. Less cumbersome orthotics were associated with higher levels of ambulation. Conclusion:Ambulation status is a function of neurological impairment, age at injury, and type of orthotic.
Background:The predictors and patterns of upright mobility in children with a spinal cord injury (SCI) are poorly understood. Objective: The objective of this study was to develop a classification system that measures children's ability to integrate ambulation into activities of daily living (ADLs) and to examine upright mobility patterns as a function of their score and classification on the International Standards for Neurological Classification of Spinal Cord Injury (ISNCSCI) exam. Methods: This is a cross-sectional, multicenter study that used a convenience sample of subjects who were participating in a larger study on the reliability of the ISNCSCI. A total of 183 patients between 5 and 21 years old were included in this study. Patients were asked if they had participated in upright mobility in the last month and, if so, in what environment and with what type of bracing. Patients were then categorized into 4 groups: primary ambulators (PrimA), unplanned ambulators (UnPA), planned ambulators (PlanA), and nonambulators. Results: Multivariate analyses found that only lower extremity strength predicted being a PrimA, whereas being an UnPA was predicted by both lower extremity strength and lack of preservation of S45 pinprick sensation. PlanA was only associated with upper extremity strength. Conclusions: This study introduced a classification system based on the ability of children with SCI to integrate upright mobility into their ADLs. Similar to adults, lower extremity strength was a strong predictor of independent mobility (PrimA and UnPA). Lack of pinprick predicted unplanned ambulation, but not being a PrimA. Finally, upper extremity strength was a predictor for planned ambulation.
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