Search results for "VARIATION"
showing 10 items of 2124 documents
Prevalence of anatomic variations of the atlas vertebra
2018
Abstract BACKGROUND CONTEXT The retrotransverse foramen (RTF), arcuate foramen (AF), unclosed transverse foramen (UTF) and posterior atlas arch defects (PAAD) are anatomic variations of the atlas vertebra that surgeons must be aware of before spine surgery is performed. PURPOSE To analyze the prevalence of the AF, RTF, UTF, and PAAD. STUDY DESIGN Ex-vivo anatomical study. PATIENT SAMPLE Two hundred eighteen atlas vertebrae obtained from 100 Caucasian subjects and 118 sub-Saharan African subjects (48 Sotho subjects, 35 Xhosa subjects and 35 Zulu subjects). METHODS We studied 218 atlas vertebrae from skeletons of the Raymond A. Dart Collection in order to analyze the prevalence of AF, RTF, UT…
Mean Platelet Volume and Arterial Stiffness - Clinical Relationship and Common Genetic Variability
2017
AbstractVessel wall stiffening is an important clinical parameter, but it is unknown whether platelets, key elements in the pathogenesis of arterial thrombosis, are associated with arterial stiffness. The present studies sought to determine whether mean platelet volume (MPV), a potential marker of platelet activation, is linked to vascular elasticity as assessed by the augmentation index (AIx), in 15,010 individuals from the population-based Gutenberg Health Study. Multivariable analysis showed that MPV in both males (β 0.776; 95thCI [0.250;1.16]; p = 0.0024) and females (β 0.881[0.328;1.43]; p = 0.0018) is strongly associated with AIx. Individuals with MPV and AIx above the sex-specific me…
Meta-analytical review of teacher burnout across 36 societies: the role of national learning assessments and gender egalitarianism
2019
Teacher burnout has hardly been compared across countries, although it has become a global health issue. This review aimed to examine teacher burnout (effect size) and its variation across countries by testing the effects of gender, gender egalitarianism, and national learning assessments (NLAs).A systematic literature search was carried out using keywords. In all, 156 studies from 36 countries were included that used quantitative methodology. Meta-analytical procedures were used to estimate effect sizes of three dimensions of burnout. Two-level multilevel mixed-effect model tested moderator variables at the country level.The overall effect size found for emotional exhaustion was 38.29 (95%…
A new methodology based on functional principal component analysis tostudy postural stability post-stroke
2018
[EN] Background. A major goal in stroke rehabilitation is the establishment of more effective physical therapy techniques to recover postural stability. Functional Principal Component Analysis provides greater insight into recovery trends. However, when missing values exist, obtaining functional data presents some difficulties. The purpose of this study was to reveal an alternative technique for obtaining the Functional Principal Components without requiring the conversion to functional data beforehand and to investigate this methodology to determine the effect of specific physical therapy techniques in balance recovery trends in elderly subjects with hemiplegia post-stroke. Methods: A rand…
A low-intensity internet-based intervention focused on the promotion of positive affect for the treatment of depression in Spanish primary care: Seco…
2020
Background: A large number of low-intensity Internet-based interventions (IBIs) for the treatment of depression have emerged in Primary Care
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations
2019
IntroductionAnorectal malformations (ARM) are rare congenital malformations, resulting from disturbed hindgut development. A genetic etiology has been suggested, but evidence for the involvement of specific genes is scarce. We evaluated the contribution of rare and low-frequency coding variants in ARM etiology, assuming a multifactorial model.MethodsWe analyzed 568 Caucasian ARM patients and 1,860 population-based controls using the Illumina Human Exome Beadchip array, which contains >240,000 rare and low-frequency coding variants. GenomeStudio clustering and calling was followed by re-calling of 'no-calls' using zCall for patients and controls simultaneously. Single variant and gene-bas…
Geo-economic variations in epidemiology, patterns of care, and outcomes in patients with acute respiratory distress syndrome: insights from the LUNG …
2017
Background Little information is available about the geo-economic variations in demographics, management, and outcomes of patients with acute respiratory distress syndrome (ARDS). We aimed to characterise the effect of these geo-economic variations in patients enrolled in the Large Observational Study to Understand the Global Impact of Severe Acute Respiratory Failure (LUNG SAFE). Methods LUNG SAFE was done during 4 consecutive weeks in winter, 2014, in a convenience sample of 459 intensive-care units in 50 countries across six continents. Inclusion criteria were admission to a participating intensive-care unit (including transfers) within the enrolment window and receipt of invasive or non…
Fundamental movement skills in adolescents : secular trends from 2003 to 2010 and associations with physical activity and BMI
2018
The aim of this study was to examine the secular trends in fundamental movement skills (FMS) among 15- to 16-year-old adolescents at 2 assessment points scheduled in 2003 and 2010 and to investigate the associations between FMS, physical activity (PA), and body mass index (BMI). In 2003, self-reported PA, weight and height, and objective FMS scores were collected from 2390 students, and in 2010, similar data were generated from a second sample of 1346 students. FMS were assessed during both assessment phases using 3 identical objective FMS tests that were figure 8 dribbling, jumping laterally, and coordination track tests. This study indicated that the sum index of FMS did not change among …
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
2012
It has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (familial ALS) and frontotemporal dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We have assessed 1,757 Italian sporadic ALS cases, 133 from Sardinia, 101 from Sicily, and 1,523 from mainland Italy. Sixty (3.7%) of 1,624 mainland Italians and Sicilians and 9 (6.8%) of the 133 Sardinian sporadic ALS cases carried the pathogenic repeat expansion. None of the 619 regionally-matched control samples (1,238 chromosomes) carried the expansion. Twenty-five cases (36.2%) had behavioral FTD in addition to ALS. FTD or unspecified d…
Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis
2021
Mastocytosis is a rare myeloid neoplasm characterized by uncontrolled expansion of mast cells, driven in >80% of affected individuals by acquisition of the KIT D816V mutation. To explore the hypothesis that inherited variation predisposes to mastocytosis, we performed a two-stage genome-wide association study, analyzing 1,035 individuals with KIT D816V positive disease and 17,960 healthy control individuals from five European populations. After quality control, we tested 592,007 SNPs at stage 1 and 75 SNPs at stage 2 for association by using logistic regression and performed a fixed effects meta-analysis to combine evidence across the two stages. From the meta-analysis, we identified three …