Hospital de Santa Maria
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Quantitative Genetics Validates Previous Genetic Variants and Identifies Novel Genetic Players Influencing Alzheimer's Disease Cerebrospinal Fluid Biomarkers
Get PDFCerebrospinal fluid (CSF) biomarkers have been extensively investigated in the Alzheimer's disease (AD) field, and are now being applied in clinical practice. CSF amyloid-beta (Aβ1-42), total tau (t-tau), and phosphorylated tau (p-tau) reflect disease pathology, and may be used as quantitative traits for genetic analyses, fostering the identification of new genetic factors and the proposal of novel biological pathways of the disease. In patients, the concentration of CSF Aβ1-42 is decreased due to the accumulation of Aβ1-42 in amyloid plaques in the brain, while t-tau and p-tau levels are increased, indicating the extent of neuronal damage. To better understand the biological mechanisms underlying the regulation of AD biomarkers, and its relation to AD, we examined the association between 36 selected single nucleotide polymorphisms (SNPs) and AD biomarkers Aβ1-42, t-tau, and p-tau in CSF in a cohort of 672 samples (571 AD patients and 101 controls) collected within 10 European consortium centers.Our results highlighted five genes, APOE, LOC100129500, PVRL2, SNAR-I, and TOMM40, previously described as main players in the regulation of CSF biomarkers levels, further reinforcing a role for these in AD pathogenesis. Three new AD susceptibility loci, INPP5D, CD2AP, and CASS4, showed specific association with CSF tau biomarkers. The identification of genes that specifically influence tau biomarkers point out to mechanisms, independent of amyloid processing, but in turn related to tau biology that may open new venues to be explored for AD treatment.info:eu-repo/semantics/publishedVersio
Bilateral knee dislocation with associated bilateral popliteal arterial injury
Get PDFTibiofemoral unilateral knee dislocations are uncommon, making bilateral dislocations even rarer injuries. Knee dislocation is considered one of the most serious injuries that can affect this joint. Associated complications such as popliteal artery injury are responsible for the important morbidity in these patients. The authors report the case of a 52-year-old man with a traumatic bilateral knee dislocation with associated bilateral popliteal arterial injury. His clinical presentation along with radiographic and angiographic findings are described. Surgical and non-surgical treatment and functional outcomes are also reported.info:eu-repo/semantics/publishedVersio
High congenital hip dislocation in adults - arthroplasty and functional results
Get PDFObjective: Retrospective case-control study on the authors' experience regarding arthroplasty in high congenital dislocations of the hip in adults.
Methods: Sample with 11 high congenital hip dislocations (Hartofilakidis type C) that occurred in seven patients, who were submitted to hip arthroplasty by the same surgeon and with the same surgical technique. Mean follow-up period was 4.32 ± 2.67 years (minimum one year) and all patients were evaluated by the same examiner.
Results: All the arthroplasties had cementless fixation, with application of screwed acetabular cups, conical femoral stems, and a metal-polyethylene articular pars. In every patient, shortening femoral osteotomies were performed at subtrochanteric or supracondylar locations. The mean Harris Hip Score at the last evaluation was 88.55 ± 4.50 (range 81-94). The mean time with high dislocation of the hip (42.91 ± 14.59 years, range 19-68) showed a significant inverse correlation with Harris Hip Score (r = 0.80; p = 0.003). All patients reported important relief of pain complaints and are capable of ambulation without any external support. In the unilateral dislocations, leg length discrepancies were fully corrected; in the bilateral cases, isometric limbs were achieved in all patients. All osteotomies consolidated, with a mean interval of 3.27 ± 0.47 months. There were complications in 18.18% of the sample: one iatrogenic intraoperative fracture of the greater trochanter and a transitory sciatic neurapraxia.
Conclusion: Despite being a demanding surgery with a reportedly high complication rate, total hip arthroplasty in high congenital dislocations, when properly indicated and technically correctly performed, allows an improvement in function and quality of life.info:eu-repo/semantics/publishedVersio
The Montreal Cognitive Assessment (MoCA) as a screening test for cognitive dysfunction in multiple sclerosis
Get PDFThis study investigates the utility of the Portuguese version of Montreal Cognitive Assessment (MoCA) as a screening-method for identifying cognitive dysfunction (CD) in multiple sclerosis (MS). The 118 participants with comprehensive neuropsychological assessment were divided into two subgroups: (I) MS group (n = 59) and (II) control group (n = 59). The MS patients were classified as cognitively intact (n = 26) or impaired (n = 33, 56%). The results indicated that the MoCA is a psychometrically valid instrument in assessment of MS patients. The Multiple Linear Regression analyses highlighted the significant influence of Modified Fatigue Impact Scale and Irregular Word Reading Test on MoCA performance. The MoCA total score showed a good discriminative capacity between cognitively impaired and cognitively intact subjects. In addition, there were significant differences in MoCA cognitive domain scores between groups. The MoCA total score cut-off point for identifying CD in MS patients was a score below 26 points (AUC = 0.837, CI = 0.736-0.937). A proposed EM-MoCA-Subscore for identifying the MS-related cognitive impairment (max. score = 19 points, cut-off <17 points, AUC = 0.871, CI = 0.784-0.958), can reduce administration time for cognitive screening in clinical settings. The MoCA is a useful and sensitive instrument to identify the MS-related cognitive impairment.info:eu-repo/semantics/publishedVersio
Oncologia Urológica - Caso Clínico de Tumor do Testiculo
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MÓDULO 2 - Reanimação, acessos vasculares e outras intervenções emergentes: 3º CURSO DE FORMAÇÃO PARA INTERNOS 2015 - 2016
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Endometrial Cancer Spheres Show Cancer Stem Cells Phenotype and Preference for Oxidative Metabolism
Get PDFThis study aimed to characterize endometrial cancer regarding cancer stem cells (CSC) markers, regulatory and differentiation pathways, tumorigenicity and glucose metabolism. Endometrial cancer cell line ECC1 was submitted to sphere forming protocols. The first spheres generation (ES1) was cultured in adherent conditions (G1). This procedure was repeated and was obtained generations of spheres (ES1, ES2 and ES3) and spheres-derived cells in adherent conditions (G1, G2 and G3). Populations were characterized regarding CD133, CD24, CD44, aldehyde dehydrogenase (ALDH), hormonal receptors, HER2, P53 and β-catenin, fluorine-18 fluorodeoxyglucose ([18F]FDG) uptake and metabolism by NMR spectroscopy. An heterotopic model evaluated differential tumor growth. The spheres self-renewal was higher in ES3. The putative CSC markers CD133, CD44 and ALDH expression were higher in spheres. The expression of estrogen receptor (ER)α and P53 decreased in spheres, ERβ and progesterone receptor had no significant changes and β-catenin showed a tendency to increase. There was a higher 18F-FDG uptake in spheres, which also showed a lower lactate production and an oxidative cytosol status. The tumorigenesis in vivo showed an earlier growth of tumours derived from ES3. Endometrial spheres presented self-renewal and differentiation capacity, expressed CSC markers and an undifferentiated phenotype, showing preference for oxidative metabolism.info:eu-repo/semantics/publishedVersio
Sports activity and hip, knee, shoulder and intervertebral disc arthroplasties
Get PDFThe success of joint replacement surgery has been responsible for raising patients' expectations regarding the procedure. Many of these procedures are currently designed not only to relive the pain caused by arthrosis, but also to enable patients to achieve functional recovery and to engage in some degree of physical activity and sports. However, as physical exercise causes an increase in forces exercised through the articular prosthesis, it can be an important risk factor for its early failure. Scientific literature on sports after arthroplasty is limited to small-scale retrospective studies with short-term follow-up, which are mostly insufficient to evaluate articular prosthesis durability. This article presents a review of the literature on sports in the context of hip, knee, shoulder and intervertebral disc arthroplasty, and puts forward general recommendations based on the current scientific evidence.
Systematic Review, Level of Evidence III.info:eu-repo/semantics/publishedVersio
Incidental adrenal mass: is 4 cm a good cut-off for surgical decision?
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