[PDF] Top 20 Screening for Pompe disease in a Portuguese High Risk Population

... Pompe disease is a rare metabolic disorder with available enzymatic replacement ...followed in Portuguese neuromuscular outpatient clinics with proximal muscle weakness affecting upper and/or ... See full document

... Hansen’s disease is no longer a public health problem in Mozambique, since 2008 (incidence under 1 / 10,000 ...affected in the world and Nampula province’s Murrupula district (incidence ...a ... See full document

... concern in the psycho-oncology ...documented in the ...common in depressed and non-depressed patients, regardless of the stage of the disease (Mitchell, Lord, & Symonds, ...2011). ... See full document

... Introduction: High values of lipoprotein(a), related to atherosclerosis progression, are often considered a marker of ...profile in a group of patients with high vascular risk and no ... See full document

... participated in the fifth Portuguese National Health Interview Survey, conducted in ...2014. In order to project the potential population at highest risk for COVID-19, we used ... See full document

... CV risk of the older age group (60 - 65 years), it is important to point out that SCORE probably overesti- mates the risk because, based on SCORE, the weight of the age factor leads to higher absolute ... See full document

... Traditional risk factors for primary event (smoking, cholesterol levels, hypertension or diabetes) play an important ...role. In our analysis, age, gender, diabetes and tobacco use disorder are among the ... See full document

... lar risk factors that might be related to serum ACE activity are not yet fully ...the risk genotypes (SI = ...large population based study [40] found a positive association between the D allele of ... See full document

... AD. In terms of age of onset, AD can be classified as late-onset and ...mutations in the APP gene, on chromosome 21, have been associated with a subset of early onset (less than 65 years) familial AD ... See full document

... established in view of the fact that participants would be followed up in coming ...functioning in the following academic year were ...helped in the collection of data, as were those on ... See full document

... 1). In that study population having a tattoo was highly associated with IV drug use (OR: ...476). In fact, all subjects in that study who had been incarcerated or admitted IV drug use had ... See full document

... their disease and its specific risks to convey accurate information about the risk of the ...is in line with meta-analyses which have shown that perceptions of risk are an important predictor ... See full document

... cases in terms of gender and ...classical risk factors and ECG was registered, but in doubtful cases complementary exams such as a stress test, and echocardiogram or an angiography, were ...diagnosed ... See full document

... Global risk scores (Society of Thoracic Surgeons [STS] score, EuroSCORE) and MGA-based scores (cogni- tion, nutrition, mobility, activities of daily living [ADL], and frailty index) were assessed as predictors of ... See full document

... periodontal disease. In the remaining periodontal parameters, there are no signifi- cant differences indicating a greater extent or severity of the disease in the study ...group. In ... See full document

... present in 34%. A metabolic abnormality was identified in 54%: hypocitraturia (34%), hypercalcuria (24%), hyperoxaluria (15%), hyperuricosuria (15%) and cystinuria (1%), without age predominance ...lower ... See full document

... categories in each subgroup when adding the new marker (CAD quartile ...(higher in patients than in controls) was calculated to address a potential impact for clinical ...capacity in ... See full document

... involved in pro-oxidative status (rs1801133 (MTHFR 677), rs1801131 (MTHFR 1298), rs705379 (PON 1), rs662 (PON 192), rs854560 (PON 55), rs6922269 (MTHFD1L); genes associated with modifiable risk factors such ... See full document

... genetic risk score to traditional risk factors associated with coronary ...coronary disease were analyzed in a case-control population with 2,888 ...genetic risk score was ... See full document

... when in equilibrium, the SSR is maintained although a combination of two processes can lead to the "death" of the ...it in a blend of unique DNA sequences that includes only short segments of the ... See full document