6,197 research outputs found

    Morbilidade da zona dadora apĂłs ligamentoplastia do LCA

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    After anterior cruciate ligamentoplasty, anterior knee pain, sensibility and muscular strength deficits are one of the most important variables affecting the final result on a well positioned neo-ligament, being this outcomes intrinsically related to the type and location of the graft utilized Após ligamentoplastia do cruzado anterior, a dor anterior do joelho e o défice de força muscular e sensitivo são das mais importantes variáveis a influenciar o resultado final de uma cirurgia tecnicamente correcta, estando estas intrinsecamente relacionadas com o tipo e localização do enxerto utilizado

    Multiple phenotypic domains of fabry disease and their relevance for establishing genotype-phenotype correlations

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    Fabry disease (FD) is a rare X-linked glycosphingolipidosis resulting from deficient a-galactosidase A (AGAL) activity, caused by pathogenic mutations in the GLA gene. In males, the multisystemic involvement and the severity of tissue injury are critically dependent on the level of AGAL residual enzyme activity (REA) and on the metabolic load of the disease, but organ susceptibility to damage varies widely, with heart appearing as the most vulnerable to storage pathology, even with relatively high REA. The expression of FD can be conceived as a multidomain phenotype, where each of the component domains is the laboratory or clinical expression of the causative GLA mutation along a complex pathophysiologic cascade pathway. The AGAL enzyme activity is the most clinically useful marker of the protein phenotype. The metabolic phenotype and the pathologic phenotype are diverse expressions of the storage pathology, respectively, assessed by biochemical and histological/ultrastructural methods. The storage phenotypes are the direct consequences of enzyme deficiency and hence, together with the enzymatic phenotype, constitute the more specific diagnostic markers of FD. In the pathophysiology cascade, the clinical phenotypes are most distantly linked to the underlying genetic causation, being critically influenced by the patients’ gender and age, and modulated by the effects of variation in other genetic loci, of polygenic inheritance and of environmental risk factors. A major challenge in the clinical phenotyping of patients with FD is the differential diagnosis between its nonspecific, later-onset complications, particularly the cerebrovascular, cardiac and renal, and similar chronic illnesses that are common in the general population. Comprehensive phenotyping, whenever possible performed in hemizygous males, is therefore crucial for grading the severity of pathogenic GLA variants, to clarify the phenotypic correlations of hypomorphic alleles, to define benign polymorphisms, as well as to establish the pathogenicity of variants of uncertain significance

    Associations between vitamin D levels and depressive symptoms in later life: evidence from the English Longitudinal Study of Ageing (ELSA)

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    BACKGROUND: A possible role of vitamin D in depression has received considerable attention, especially given the significant disability, mortality, and healthcare costs associated to depression and the high prevalence of vitamin D deficiency. METHODS: We investigated the cross-sectional associations between serum 25-hydroxyvitamin D (25OHD) levels and depressive symptoms (CES-D) in 5,607 older adults from the English Longitudinal Study of Ageing (ELSA). RESULTS: Overall, there was a significant association between low 25OHD levels and elevated depressive symptoms (odds ratio [OR] = 1.58, 95% confidence interval [CI] = 1.20–2.07 for the lowest quartile; OR = 1.45, 95% CI = 1.15–1.83 for <30 nmol/L cut-off and OR = 1.34, 95% CI = 1.10–1.62 for the ≤50 nmol/L cut-off) after adjustment for a wide range of covariates of clinical significance. Fully adjusted models showed that women in the lowest (OR = 1.67, 95% CI = 1.20–2.34) and second lowest (OR = 1.68, 95% CI = 1.20–2.35) quartiles of 25OHD as well as those with 25OHD levels <30 nmol/L (OR = 1.40, 95% CI = 1.06–1.86) and ≤50 nmol/L (OR = 1.35, 95% CI = 1.07–1.72) were more likely to report elevated depressive symptoms. For men, however, this association only remained significant for those with 25OHD levels of <30 nmol/L (OR = 1.60, 95% CI = 1.06–2.42) in the fully adjusted models. CONCLUSIONS: The independent and inverse association found between low 25OHD levels and elevated depressive symptoms suggests that vitamin D deficiency may be a risk factor for late-life depression, particularly among women. Whether our findings have any clinical meaning or not, additional data are needed from well-designed randomized controlled trials of vitamin D for the prevention and treatment of late-life depression

    Determination of sulfur dioxide in wine using a quartz crystal microbalance

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    A new method for the analysis of both total and bound SO2 in wine is proposed, based on a quartz crystal microbalance (QCM), and it is compared with the widely used Ripper method. The proposed method is faster than the Ripper's, and the instrumentation is either homemade or widely available. When both methods are applied to the same sample, the results obtained using the QCM method are bracketed in an interval less than one-tenth the size of that obtained using the Ripper method. Although the SO2 concentrations found using the QCM method correlate well with the ones obtained with the Ripper method, the results are systematically higher, which can be explained as due to the absence of interferences known to affect the Ripper method

    Single or Combined Maquet III Osteotomy: Long Term Results

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    INTRODUCTION: In 1963, based on biomechanics studies, Maquet proposed the advancement of the patellar tendon insertion as a mean of treating patellofemoral pain. The rationale for this procedure was a reduction in the patellofemoral compression force vector by changing the angular relationship between patella tendon and quadriceps tendon. One of the additional procedures, on a malalign knee, was performing a cupuliform osteotomy above the tibial tuberosity (COATT). OBJECTIVES: Evaluating, on a retrospective and comparative trial, the clinical and radiological long-term outcomes of the patients who underwent a single (M) or combined (MC) Maquet III osteotomy, in order to determine if this surgery as or not fulfilled its initially objectives. METHODS: All surgical records of the Service, between 1970 and 1991, were reviewed. We identify 116 cases registered as “M” or “MC” Maquet III osteotomy. A questionnaire as been prepared for collecting data. We evaluated the preoperative complaints, postoperative complications and range of motion recovery time, as well as the postoperative pain absence period. All patients underwent an objective assessment by the Visual Analog Scale (VAS) and the Kujala Patellofemoral Scoring System (KPFSS). A radiological assessment was also made in order to evaluate the arthrosis degree and compartment affected, the Bicondylo-Patellar Angle (BPA) and the Caton-Deschamps Index (CDI). Mann-Whitney, t-Student and Chi-Square tests were applied for statistical evaluation. p <0.05 was considered statistically significant. RESULTS: According to the study criteria, from the 116 selected patients we could review in our clinics 49 Maquet III osteotomies (n= 25 “M” group vs n=24 “MC” group) . On the “M” group, the average age at surgery was 37.6 ±12.0 years and the postoperative follow-up 27.1 ±3.15 years, versus 56,5 ±6,8 years at surgery and a 23,2 ±3,4 postoperative follow up years on the “MC” group. Prior range of motion was accomplished 4.8 ±3.5 months after surgery on the “M” group versus 6,7 ±3,5 months on the “MC” group (p=0,017). About complications, on the “M” group we have 16,0% (n=4) versus 16,6% (n=4) (p=0,763). The “M” group presented40% (n=10) patients who haven’t referred pain until nowadays versus 38,5% (n=5) (p=0,85), and the average period of of pain absence was 20.5 ±5.7 years on the “M” group versus 11,0 ±1,7 (p=0,001). At the COX score, 58,3% (n=14) of the “M” group had good to excellent outcomes versus 53,8% (n=7) (p=0,793). VAS at rest was 1.7 ±0.7, in activity 4.4±3.0 and KPFSS 61.9 ±22.3 points on the “M” group versus 1,1 ±0,3 (p=0,016), 4,3 ±2,0 (p=0,883) and 54,7 ± 16,9 (p=0,364) points on the “MC” group. Radiologically, BPA was 6.3 ±3.9° and CDI 0.9 ±0.1 on the “M” group versus 11,8 ±3,9 (p=0,000) and 0,9 ±0,2 (p=0,99) on the “MC” group. Nowadays, at the“M” group,58,3% (n=14) had a grade I/II of Kellgren&Lawrence at patellofemoral joint and 79,2.% (n=19) at the femorotibial joint versus 53,8% (n=7) (p=0,793) and 46,2% (n=6) (p=0,041). CONCLUSION: With a cut off follow-up period higher than 20 years, the Maquet III group presented58,3% of good to excellent outcomes with patients presenting a majority of low grade osteoarthritic knee. The COATT procedure hasn’t increased the postoperative complications nor worsen the funcional outcomes. On the other side, the femorotibial grade of arthritis was higher on this group

    Vitamin D and inflammatory markers: cross-sectional analyses using data from the English Longitudinal Study of Ageing (ELSA)

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    Recent evidence suggests that low vitamin D concentrations are associated with increased levels of inflammatory markers. However, there are limited studies investigating associations between vitamin D levels and inflammatory markers in the general population and much of this evidence in older adults is inconclusive. Therefore, this study investigates the cross-sectional association of serum 25-hydroxyvitamin D (25(OH)D) levels with inflammatory markers in 5870 older English adults from wave 6 (2012-2013) of the English Longitudinal Study of Ageing (ELSA). ELSA is a large prospective observational study of community-dwelling people aged 50 years and over in England. Serum 25(OH)D levels, C-reactive protein (CRP) levels, plasma fibrinogen levels, white blood cell count (WBC), age, season of blood collection, waist circumference, total non-pension household wealth, measures of health and health behaviours that included depression, number of cardiovascular, non-cardiovascular conditions and difficulties in activities of daily living, smoking, and physical activity were measured. There was a significant negative association between low 25(OH)D levels (≤30 nmol/l) and CRP (OR 1·23, 95 % CI 1·00, 1·51) and WBC (OR 1·35, 95 % CI 1·13, 1·60) that remained after adjustment for a wide range of covariates of clinical significance. However, for fibrinogen, the association did not remain significant when waist circumference was entered in the final model. Our findings showed that 25(OH)D levels were associated with two out the three inflammatory markers investigated. The independent and inverse association between serum 25(OH)D levels and inflammation suggests a potential anti-inflammatory role for vitamin D in older English individuals from the general population

    Sprint-interval but not continuous exercise increases PGC-1α protein content and p53 phosphorylation in nuclear fractions of human skeletal muscle

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    Sprint interval training has been reported to induce similar or greater mitochondrial adaptations to continuous training. However, there is limited knowledge about the effects of different exercise types on the early molecular events regulating mitochondrial biogenesis. Therefore, we compared the effects of continuous and sprint interval exercise on key regulatory proteins linked to mitochondrial biogenesis in subcellular fractions of human skeletal muscle. Nineteen men, performed either 24 min of moderate-intensity continuous cycling at 63% of W-Peak (CE), or 4 x 30-s "all-out" cycling sprints (SIE). Muscle samples (vastus lateralis) were collected pre-, immediately (+0 h) and 3 (+3 h) hours postexercise. Nuclear p53 and PHF20 protein content increased at +0 h, with no difference between groups. Nuclear p53 phosphorylation and PGC-1 alpha protein content increased at +0 h after SIE, but not CE. We demonstrate an exercise-induced increase in nuclear p53 protein content, an event that may relate to greater p53 stability - as also suggested by increased PHF20 protein content. Increased nuclear p53 phosphorylation and PGC-1 alpha protein content immediately following SIE but not CE suggests these may represent important early molecular events in the exercise-induced response to exercise, and that SIE is a time-efficient and possibly superior option than CE to promote these adaptations

    Generalizations of the genomic rank distance to indels

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    MOTIVATION: The rank distance model represents genome rearrangements in multi-chromosomal genomes as matrix operations, which allows the reconstruction of parsimonious histories of evolution by rearrangements. We seek to generalize this model by allowing for genomes with different gene content, to accommodate a broader range of biological contexts. We approach this generalization by using a matrix representation of genomes. This leads to simple distance formulas and sorting algorithms for genomes with different gene contents, but without duplications. RESULTS: We generalize the rank distance to genomes with different gene content in two different ways. The first approach adds insertions, deletions and the substitution of a single extremity to the basic operations. We show how to efficiently compute this distance. To avoid genomes with incomplete markers, our alternative distance, the rank-indel distance, only uses insertions and deletions of entire chromosomes. We construct phylogenetic trees with our distances and the DCJ-Indel distance for simulated data and real prokaryotic genomes, and compare them against reference trees. For simulated data, our distances outperform the DCJ-Indel distance using the Quartet metric as baseline. This suggests that rank distances are more robust for comparing distantly related species. For real prokaryotic genomes, all rearrangement-based distances yield phylogenetic trees that are topologically distant from the reference (65% similarity with Quartet metric), but are able to cluster related species within their respective clades and distinguish the Shigella strains as the farthest relative of the Escherichia coli strains, a feature not seen in the reference tree. AVAILABILITY AND IMPLEMENTATION: Code and instructions are available at https://github.com/meidanis-lab/rank-indel. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online

    Subjective social status and mortality: the English Longitudinal Study of Ageing

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    Self-perceptions of own social position are potentially a key aspect of socioeconomic inequalities in health, but their association with mortality remains poorly understood. We examined whether subjective social status (SSS), a measure of the self-perceived element of social position, was associated with mortality and its role in the associations between objective socioeconomic position (SEP) measures and mortality. We used Cox regression to model the associations between SSS, objective SEP measures and mortality in a sample of 9972 people aged ≥ 50 years from the English Longitudinal Study of Ageing over a 10-year follow-up (2002-2013). Our findings indicate that SSS was associated with all-cause, cardiovascular, cancer and other mortality. A unit decrease in the 10-point continuous SSS measure increased by 24 and 8% the mortality risk of people aged 50-64 and ≥ 65 years, respectively, after adjustment for age, sex and marital status. The respective estimates for cardiovascular mortality were 36 and 11%. Adjustment for all covariates fully explained the association between SSS and cancer mortality, and partially the remaining associations. In people aged 50-64 years, SSS mediated to a varying extent the associations between objective SEP measures and all-cause mortality. In people aged ≥ 65 years, SSS mediated to a lesser extent these associations, and to some extent was associated with mortality independent of objective SEP measures. Nevertheless, in both age groups, wealth partially explained the association between SSS and mortality. In conclusion, SSS is a strong predictor of mortality at older ages, but its role in socioeconomic inequalities in mortality appears to be complex

    Changes in vitamin D levels and depressive symptoms in later life in England

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    Inadequate vitamin D levels have been associated with increased risk of depression. However, most of these studies are cross-sectional and failed to investigate the effect of changes in vitamin D levels. This study aimed to investigate the longitudinal association of changes in serum 25-hydroxyvitamin D levels with depressive symptoms in 3365 participants of the English Longitudinal Study of Ageing, a large nationally-representative study of older adults. Based on their vitamin D levels at baseline and follow-up (sufficient ≥ 50 nmol/L; insufficient &lt; 50 nmol/L), participants were classified as follows: with sufficient levels at both waves; with sufficient levels at baseline but not at follow-up; with insufficient levels at baseline but ≥ 50 nmol/L at follow-up; and with levels &lt; 50 nmol/L at each time point. Depressive symptoms were measured using the 8-point CES-D scale. Data were analysed using logistic regression models. Compared with those with sufficient levels of vitamin D at both waves, only those with insufficient levels throughout were more likely to report elevated depressive symptoms (OR = 1.39, 95% CI = 1.00–1.93). Becoming or no longer being vitamin D deficient was, in the short term, not associated with elevated depressive symptoms. Further evidence is required on whether vitamin D supplementation might contribute to the prevention or treatment of depression as well as on the duration of time for changes in vitamin D levels to lead to detectable changes in depressive symptoms
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