Development and validation of a multiplex-PCR assay for X-linked intellectual disability

BACKGROUND: X-linked intellectual disability is a common cause of inherited cognitive deficit affecting mostly males. There are several genetic causes implicated in this condition, which has hampered the establishment of an accurate diagnosis. We developed a multiplex-PCR assay for the mutational hotspot regions of the FMR1, AFF2 and ARX genes. METHODS: The multiplex-PCR was validated in a cohort of 100 males selected to include known alleles for the FMR1 repetitive region: five full mutations (250-650 CGGs), ten premutations (70-165 CGGs) and eighty-five in the normal range (19-42 CGGs). Sequencing or Southern blotting was used to confirm the results, depending on the allele class. In this cohort, with the exception of one sample showing an AFF2 intermediate-sized allele, all other samples were normal (8-34 CCGs). No ARX variant was found besides the c.429_452dup. The validated assay was applied to 5000 samples (64.4% males and 35.6% females). RESULTS: The normal-allelic range of both FMR1 and AFF2 genes as well as the nature of ARX variants identified was similar in both genders. The rate of homozygosity observed in female samples, 27.5% for FMR1 and 17.8% for AFF2 alleles, is comparable to that published by others. Two FMR1 premutations were identified, in a male (58 CGGs) and a female case [(CGG)(47)/(CGG)(61)], as well as several FMR1 or AFF2 intermediate-sized alleles. One AFF2 premutation (68 CCGs) and two putative full expansions were picked up in male subjects, which seems relevant considering the rarity of reported AFF2 mutations found in the absence of a family history. CONCLUSIONS: We developed a robust multiplex-PCR that can be used to screen the mutational hotspot regions of FMR1, AFF2 and ARX genes. Moreover, this strategy led to the identification of variants in all three genes, representing not only an improvement in allele-sizing but also in achieving a differential diagnosis. Although the distinction between females who are truly homozygous and those with a second pre- or full mutation sized allele, as well as a definitive diagnosis, requires a specific downstream technique, the use of this multiplex-PCR for initial screening is a cost-effective approach which widens the scope of detection

Biophysical probing of Spartina maritima photo-system II changes during prolonged tidal submersion periods

Submergence is one of the major constrains affecting wetland plants, with inevitable impacts on their physiology and productivity. Global warming as a driving force of sea level rise, tend to increase the submersion periods duration. Photosynthesis biophysical probing arise as an important tool to understand the energetics underlying plant feedback to these constrains. As in previous studies with Spartina maritima, there was no inhibition of photosynthetic activity in submerged individuals. Comparing both donor and acceptor sides of the PSII, the first was more severely affected during submersion, driven by the inactivation of the OEC with consequent impairment of the ETC. Although this apparent damage in the PSII donor side, the electron transport per active reaction centre was not substantially affected, indicating that this reduction in the electron flow is accompanied by a proportional increase in the number of active reaction centres. These conditions lead to the accumulation of excessive reducing power, source of damaging ROS, counteracted by efficient energy dissipation processes and anti-oxidant enzymatic defences. This way, S. maritima appears as a well-adapted species with an evident photochemical plasticity towards submersion, allowing it to maintain its photosynthetic activity even during prolonged submersion periods.The authors would like to thank to the “ Fundação para a Ciência e Tecnologia (FCT)” for funding the research in the Centre of Oceanography (CO) throughout the project PEst-OE/MAR/UI0199/ 2011, the Institute of Marine Research (IMAR) throughout the project PEst-C/MAR/UI0284/2011 and this specific work throughout the ECOSAM project (PTDC/AAC-CLI/104085/2008). B. Duarte investigationwas supported by FCT throughout a PhD grant (SFRH/BD/75951/2011)

Prevalence of personal weight control attempts in adults: a systematic review and meta-analysis

The purpose of this systematic review and meta-analysis was to estimate the prevalence of personal weight control attempts (weight loss and/or maintenance) worldwide and to identify correlates, personal strategies used and the underlying motives. We included epidemiological/observational studies of adults (≥18 years) reporting prevalence of weight control attempts in the past-year. Seventy-two studies (n = 1,184,942) met eligibility criteria. Results from high quality studies showed that 42% of adults from general populations and 44% of adults from ethnic-minority populations reported trying to lose weight, and 23% of adults from general populations reported trying to maintain weight annually. In general population studies, higher prevalence of weight loss attempts was observed in the decade of 2000–2009 (48.2%), in Europe/Central Asia (61.3%) and in overweight/obese individuals and in women (p < 0.01). Of the 37 strategies (grouped in 10 domains of the Oxford Food and Activity Behaviours Taxonomy) and 12 motives reported for trying to control weight, exercising and dieting (within the energy compensation and restraint domains, respectively) and wellbeing and long-term health were the most prevalent. To our knowledge, this is the first systematic review to investigate weight control attempts worldwide. Key strategies and motives were identified which have implications for future public health initiatives on weight control

Pulmonary Asymmetry on Chest X-Ray

A ausência unilateral de uma artéria pulmonar é uma anomalia congénita rara. Os autores descrevem o caso de um rapaz de dois anos, sem antecedentes patológicos prévios e que é referenciado para avaliação após a detecção na telerradiografia de tórax de assimetria dos campos pulmonares com desvio do mediastino para a direita. A tomografia axial computorizada e a cintigrafia de perfusão pulmonar entretanto efectuadas, indicavam para a ausência da artéria pulmonar direita que foi comprovada no cateterismo cardíaco e em ressonância magnética. Esta é uma patologia relevante pois o seu diagnóstico precoce e a sua correcção atempada podem evitar morbilidades no futuro. Dada a idade e o facto de o doente estar de momento assintomático, optou-se por uma atitude conservadora e vigilância em ambulatório

Gestational weght gain and body mass index in pre-school children

To examine the association between gestational weight gain (GWG) and body mass index (BMI) in pre-school children.info:eu-repo/semantics/publishedVersio

HEALTH-STATE UTILITIES IN CHRONIC IMMUNE DISEASES: PILOT STUDY

HEALTH-STATE UTILITIES IN CHRONIC IMMUNE DISEASES: PILOT STUDY Claúdia Ribeiro1,2,3, Augusta Silveira4,3, Augusta Marques5, Catarina Ribeiro4, Isabel Santos6,2,3, Carlos Vasconcelos2,3 1UCP, 2HSA/CHP, 3ICBAS/UP, 4UFP, 5HPA e 6HSMF. Universidade Católica Portuguesa (UCP), Porto Hospital de Santo António, Centro Hospitalar do Porto (HSA/CHP), Porto. Instituto Ciências Biomédicas Abel Salazar, Universidade do Porto (ICBAS/UP), Porto. Universidade Fernando Pessoa (UFP), Porto. Hospital Privado da Arrábida (HPA), Porto. Hospital Santa Maria da Feira (HSMF), Porto. Background Utility scores are used to estimate Quality Adjusted Life Years (QALYs), applied in determining the cost-effectiveness of health care interventions. In studies where no preference based measures are collected, indirect methods have been developed to estimate utilities from clinical instruments. Aim The aim of this study was to evaluate a published method of estimating the Short Form-6D (SF-6D) (preference based) in patients with chronic immune diseases from Unidade de Imunologia Clínica do Hospital de Santo António - Centro Hospitalar do Porto and evaluate the impact of socio demographics economics and clinical characteristics on quality of life (QoL) and potential predictors for QoL improvements. Methods We enrolled 320 patients with chronic immune diseases (104 men and 226 women with a mean age: 45.21; 84 people living with HIV and 236 with chronic autoimmune diseases. All responders to the Portuguese SF-36 version 2.0 questionnaire can be assigned an SF-6D score provided the 11 items used in the SF-6D have been completed using a computerized administration. To assess socioeconomic status, we use the Graffer’s scale, clinical and demographic variables were assessed by a questionnaire specifically designed for the present study. Results The mean utility value was .595. Male, gender, young, single, individuals with high educational attainment level and Graffer’s scale Class high reported higher utility levels. As expected, those who takes therapeutics’ or have a higher length disease reported lower mean utility levels than those who were in a less severe stadium of the disease or without therapeutic. Conclusion This paper provides the first utilities obtained from a populations leave with chronic immune diseases. The preference-based measures used in this study distinguish patient groups with chronic immune diseases’ in terms of socio-demographics characteristics and clinical groups. The normative values can be used economic evaluation and clinical studies as they incorporate patient’s preferences and translate the value attribute to patients´ health state. Apresentador: Cláudia Ribeiro, Médica Dentista. Doutoranda, Faculdade de Medicina da Universidade de Santiago de Compostela

A proposed adaptation of the European Foundation for Quality Management Excellence Model to physical activity programmes for the elderly - development of a quality self-assessment tool using a modified Delphi process

<p>Abstract</p> <p>Background</p> <p>There has been a growing concern in designing physical activity (PA) programmes for elderly people, since evidence suggests that such health promotion interventions may reduce the deleterious effects of the ageing process. Complete programme evaluations are a necessary prerequisite to continuous quality improvements. Being able to refine, adapt and create tools that are suited to the realities and contexts of PA programmes for the elderly in order to support its continuous improvement is, therefore, crucial. Thus, the aim of this study was to develop a self-assessment tool for PA programmes for the elderly.</p> <p>Methods</p> <p>A 3-round Delphi process was conducted via the Internet with 43 national experts in PA for the elderly, management and delivery of PA programmes for the elderly, sports management, quality management and gerontology, asking experts to identify the propositions that they considered relevant for inclusion in the self-assessment tool. Experts reviewed a list of proposed statements, based on the criteria and sub-criteria from the European Foundation for Quality Management Excellence Model (EFQM) and PA guidelines for older adults and rated each proposition from 1 to 8 (disagree to agree) and modified and/or added propositions. Propositions receiving either bottom or top scores of greater than 70% were considered to have achieved consensus to drop or retain, respectively.</p> <p>Results</p> <p>In round 1, of the 196 originally-proposed statements (best practice principles), the experts modified 41, added 1 and achieved consensus on 93. In round 2, a total of 104 propositions were presented, of which experts modified 39 and achieved consensus on 53. In the last round, of 51 proposed statements, the experts achieved consensus on 19. After 3 rounds of rating, experts had not achieved consensus on 32 propositions. The resulting tool consisted of 165 statements that assess nine management areas involved in the development of PA programmes for the elderly.</p> <p>Conclusion</p> <p>Based on experts' opinions, a self-assessment tool was found in order to access quality of PA programmes for the elderly. Information obtained with evaluations would be useful to organizations seeking to improve their services, customer satisfaction and, consequently, adherence to PA programmes, targeting the ageing population.</p

Portuguese airport efficiency analysis: the case study of Oporto

The Oporto Airport located in the northern region in Porto city is crucial because is the only one located in the northern region. This airport had an increasing in number of passengers, sales revenue and accumulated investment during the last two decades, principally after the introduction and the operation of the Low Cost Companies since 2004 to the present. In order to determine if the last changes had an impact in the competitiveness of this airport, the main aims is to analise the evolution of values of the technical efficiency and equate the results before and after the introduction of the LCCs in this airport. The methodology uses the Data Envelopment Analysis. Results show that the Oporto Airport efficiency increases highly after the introduction of LCCs since 2004. The main conclusions suggest the importance of the introduction of LCCs in the increasing efficiency of the Oporto Airport and the potential relation with tourism development in this region, but more strong studies are needed.info:eu-repo/semantics/publishedVersio