| 1. |
- Madeira, Teresa, et al.
(författare)
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Malnutrition among older adults living in Portuguese nursing homes : the PEN-3S study
- 2019
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Ingår i: Public Health Nutrition. - 1368-9800 .- 1475-2727. ; 22:3, s. 486-497
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To characterise the nutritional status and to identify malnutrition-associated variables of older adults living in Portuguese nursing homes.DESIGN: Cross-sectional study. Data on demographic and socio-economic characteristics, self-reported morbidity, eating-related problems, nutritional status, cognitive function, depression symptoms, loneliness feelings and functional status were collected by trained nutritionists through a computer-assisted face-to-face structured interview followed by standardised anthropometric measurements. Logistic regression was used to identify factors associated with being at risk of malnutrition/malnourished.SETTING: Portuguese nursing homes.SUBJECTS: Nationally representative sample of the Portuguese population aged 65 years or over living in nursing homes.RESULTS: A total of 1186 individuals (mean age 83·4 years; 72·8 % women) accepted to participate. According to the Mini Nutritional Assessment, 4·8 (95 % CI 3·2, 7·3) % were identified as malnourished and 38·7 (95 % CI 33·5, 44·2) % were at risk of malnutrition. These percentages increased with age and were significantly higher for women. Logistic regression showed (OR; 95 % CI) that older adults reporting no or little appetite (6·5; 2·7, 15·3), those revealing symptoms of depression (2·6; 1·6, 4·2) and those who were more dependent in their daily living activities (4·7; 2·0, 11·1) were also at higher odds of being malnourished or at risk of malnutrition.CONCLUSIONS: Malnutrition and risk of malnutrition are prevalent among nursing home residents in Portugal. It is crucial to routinely screen for nutritional disorders, as well as risk factors such as symptoms of depression and lower functional status, to prevent and treat malnutrition.
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| 2. |
- Amaral, Rita, et al.
(författare)
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Profiling Persistent Asthma Phenotypes in Adolescents : A Longitudinal Diagnostic Evaluation from the INSPIRERS Studies
- 2021
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Ingår i: International Journal of Environmental Research and Public Health. - : MDPI. - 1661-7827 .- 1660-4601. ; 18:3
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Tidskriftsartikel (refereegranskat)abstract
- We aimed to identify persistent asthma phenotypes among adolescents and to evaluate longitudinally asthma-related outcomes across phenotypes. Adolescents (13-17 years) from the prospective, observational, and multicenter INSPIRERS studies, conducted in Portugal and Spain, were included (n = 162). Latent class analysis was applied to demographic, environmental, and clinical variables, collected at a baseline medical visit. Longitudinal differences in clinical variables were assessed at a 4-month follow-up telephone contact (n = 128). Three classes/phenotypes of persistent asthma were identified. Adolescents in class 1 (n = 87) were highly symptomatic at baseline and presented the highest number of unscheduled healthcare visits per month and exacerbations per month, both at baseline and follow-up. Class 2 (n = 32) was characterized by female predominance, more frequent obesity, and uncontrolled upper/lower airways symptoms at baseline. At follow-up, there was a significant increase in the proportion of controlled lower airway symptoms (p < 0.001). Class 3 (n = 43) included mostly males with controlled lower airways symptoms; at follow-up, while keeping symptom control, there was a significant increase in exacerbations/month (p = 0.015). We have identified distinct phenotypes of persistent asthma in adolescents with different patterns in longitudinal asthma-related outcomes, supporting the importance of profiling asthma phenotypes in predicting disease outcomes that might inform targeted interventions and reduce future risk.
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| 3. |
- Mur, Pilar, et al.
(författare)
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Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis
- 2018
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 39:9, s. 1214-1225
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Tidskriftsartikel (refereegranskat)abstract
- The causal association of NUDT1 (=MTH1) and OGG1 with hereditary colorectal cancer (CRC) remains unclear. Here, we sought to provide additional evidence for or against the causal contribution of NUDT1 and OGG1 mutations to hereditary CRC and/or polyposis. Mutational screening was performed using pooled DNA amplification and targeted next-generation sequencing in 529 families (441 uncharacterized MMR-proficient familial nonpolyposis CRC and 88 polyposis cases). Cosegregation, in silico analyses, in vitro functional assays, and case-control associations were carried out to characterize the identified variants. Five heterozygous carriers of novel (n=1) or rare (n=4) NUDT1 variants were identified. In vitro deleterious effects were demonstrated for c.143G>A p.G48E (catalytic activity and protein stability) and c.403G>T p.G135W (protein stability), although cosegregation data in the carrier families were inconclusive or nonsupportive. The frequency of missense, loss-of-function, and splice-site NUDT1 variants in our familial CRC cohort was similar to the one observed in cancer-free individuals, suggesting lack of association with CRC predisposition. No OGG1 pathogenic mutations were identified. Our results suggest that the contribution of NUDT1 and OGG1 germline mutations to hereditary CRC and to polyposis is inexistent or, at most, negligible. The inclusion of these genes in routine genetic testing is not recommended.
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