Proteinúria na fibrose cística: possível correlação entre genótipo e fenótipo renal

OBJECTIVE: To assess proteinuria in patients with cystic fibrosis (CF), and to correlate proteinuria with genotype, CF-related diabetes and disease severity. METHODS: A prospective study was carried out over a six-month period and involving 22 CF patients. After the collection and analysis of 24-h urine samples, the patients were divided into two subgroups: protein excretion 150 mg/day (highproteinuria). Patient charts were reviewed to obtain data on genotype and CF-related diabetes. Disease severity was assessed based on acute exacerbations in the last six months and FEV1 measured during the study period. To assess the correlation between genotype and proteinuria, the two main mutations (DeltaF508 and R334W) were evaluated. Due to the existence of genotype DeltaF508/R334W, two categories were created to enable statistical analysis, DeltaF508 being evaluated in category 1 and R334W being evaluated in category 2. RESULTS: The DeltaF508 mutation tended to be associated with normal protein excretion: 100% of the low-proteinuria subgroup patients were considered DeltaF508 in category 1, compared with 86.7% in category 2. Protein excretion tended to be higher in patients with the R334W mutation: 60.0% of the high-proteinuria subgroup patients were considered R334W in category 1, compared with 80.0% in category 2 (p = 0.009 and p = 0.014, respectively). No significant association was found for any of the other variables. CONCLUSIONS: The results suggest that genotype is associated with renal phenotype, depending on the mechanism by which the genotype alters the function of the cystic fibrosis transmembrane conductance regulator gene

Evaluation of bone mineral density in cystic fibrosis patients

Patients with cystic fibrosis (CF) have an increasing life span and osteoporosis has become a more recognised problem in these patients. The pathogenesis of low bone mineral density (BMD) in CF seems to be multifactorial and the aim of this study was to assess the prevalence of low BMD in a group of CF outpatients and to relate the findings with the variables studied. The study included 22 patients aged between 14 and 45 years (mean age 26.3). Two of the subjects were lung transplant patients. BMD was assessed by dual-energy X-ray absorptiometry (DEXA) at the lumbar spine (LS) and femoral neck (FN). This data was correlated with serum 25-hydroxy vitamin D (25-OHD) levels, BMI and the forced expiratory volume in one second (FEV1). BMD (Z-score and T-score) ranged from 0.6 to -6 and from 0.5 to -6.7 at LS; at FN the scores ranged from 0.6 to -3.9 and from 0.6 to -4.1. The mean serum 25-OHD concentration (12,57 ng/ml) was at the low end of the normal range (10-60 ng/ml). On average patients did not present with malnutrition, however BMI ranged from 15.2 to 33.7 kg/m2. Lung function status was assessed by FEV1; 64% of patients had FEV1 below 80% and within this group four patients had a FEV1 under 40%. There was a positive correlation between low BMD and 25-OHD concentrations and also between BMD and FEV1. There was no linear correlation between BMD and BMI

Bronchoalveolar lavage in occupational lung diseases

Occupational lung diseases (OLDs) are related to the exposure and inhalation of organic, inorganic, and synthetic particles, fumes, gases, or infectious agents. From the long list of OLDs this article focuses the discussion on bronchoalveolar lavage (BAL) in parenchymal immunoinflammatory conditions, such as hypersensitivity pneumonitis (HP) and pneumoconiosis. Several antigens may cause HP, including products of plant or animal origin, aerosolized microorganisms, and organic chemicals. BAL is used not only to assess the pathogenesis of these diseases but also to identify the typical pattern of intense lymphocytic alveolitis, usually with a CD4:CD8 ratio below normal and frequently with the presence of mast cells, plasma cells, and foamy macrophages. Pneumoconioses are chronic interstitial lung diseases caused by the inhalation of mineral and metallic inorganic particles/dusts in an occupational setting, showing a decreasing prevalence in recent years. BAL is a useful tool not only to express the complex pathogenic mechanisms of these entities but also in excluding other diagnoses and causes of alveolitis, and to document specific exposures, such as the identification of asbestos bodies (ABs) in asbestosis or the proliferative response of BAL lymphocytes to beryllium in chronic beryllium disease (CBD)

Sarcoidosis: a less common presentation.

The clinical presentation of sarcoidosis is diverse and in over 90% of patients there is pulmonary involvement. The most common features of the radiographic findings at the time of diagnosis are bilateral hilar lymphadenopathy and pulmonary infiltration. The authors report the case of a young female patient who presented with multiple bilateral nodular shadows on chest radiograph. Surgical biopsy revealed non-necrotizing granulomas with occasional multinucleated giant cells compatible with sarcoidosis. Although this was a case of stage III pulmonary disease, the patient was asymptomatic, lung function tests were normal and there were no signs of extrathoracic involvement. Spontaneous remission occurred without treatment as shown on high resolution CT scan follow-up, one year later

Body mass index and airway hyper-responsiveness in individuals without respiratory disease

BACKGROUND: Overweight and obesity are major health issues in Western societies. They are related with a higher risk of different co-morbidities but their relationship with airway hyperresponsiveness (AHR) is still under discussion. Nevertheless, they are related to higher severity in asthma and other respiratory diseases. The aim of the study was to analyze the AHR in individuals with normal lung function without respiratory disorders, according to body mass index (BMI) calculation. METHODS: We performed clinical observation and basal lung function tests (LFT) in 595 consecutive individuals in order to exclude respiratory disease. 377 individuals fulfilled the criteria of normal values according international guidelines. They were submitted to standardized treadmill exercise test followed by bronchodilator test. FVC, FEV1, FEF 25/75, RV and Raw were obtained at different conditions according to BMI groups (I: lean; II: normal; III: overweight; IV obese). RESULTS: 55.2% of the sample was overweight or obese, and a signficant relationship was found with female gender and older ages (p=0.0046 and p<0.0001 respectively). The positive response to exercise test or bronchodilator beta2 agonists was not significantly frequent compared with the other groups. In obese individuals the exercise markedly reduced basal Raw and increased FEF 25/75. Lean individuals showed higher basal values of RV that was reduced upon exercise. Response to 12 agonists showed no differences according to weight biotypes. CONCLUSION: BMI hampers lung function in normal individuals, and seems not to be related to AHR. Regular exercise should be encouraged in overweight and obese individuals, since it increases their bronchial permeability as shown in lower frequency of positive exercise tests. The same is advisable for lean individuals for different reasons. Their increased basal RV and Raw improve upon exercise. Despite overweight and obesity are being related to a low-grade of basal systemic inflammation, there was no association with a higher basal bronchial hyperresponsiveness in these individuals

Beyond Legalism in Turbulent Times: Re-grounding UK Social Work in a Richer International Human Rights Perspective

Human rights have always been intrinsically woven into social work, but in the UK, often in a way that is either vague or wholly legalistic. In this article, we make a case for embedding a broader and richer concept of human rights in UK social work practice and education. We contrast the international social work perspective on human rights with that of UK professional codes and suggest that the narrow and uninterrogated conceptualisation of human rights in the UK may be acting as a barrier to UK social workers fully understanding and engaging with broader human rights agendas of the sort found in international practice. We argue for the merits of regrounding UK social work in this broader human rights concept, in which radical and emancipatory approaches can be underpinned by a common and unifying rights-orientated perspective. We make this argument, initially, in the context of the Human Rights Act 1998 remaining in UK law, which we see as entirely necessary for the protection of human rights in social work in the country, but insufficient for a broader, richer concept. We also, however, consider a scenario in which the Act is replaced by a British Bill of Rights and argue that such a development would present a further urgent need for embedding a broader human rights concept in UK social work. We close by setting out some of what such a concept might involve

Community engagement to enhance trust between Gypsy/Travellers, and maternity, early years’ and child dental health services: protocol for a multimethod exploratory study

Gypsy/Travellers have poor health and experience discrimination alongside structural and cultural barriers when accessing health services and consequently may mistrust those services. Our study aims to investigate which approaches to community engagement are most likely to be effective at enhancing trust between Gypsy/Travellers and mainstream health services. Methods This multi-method 30-month study, commenced in June 2015, and comprises four stages. 1. Three related reviews: a) systematic review of Gypsy/Travellers’ access to health services; b) systematic review of reviews of how trust has been conceptualised within healthcare; c) realist synthesis of community engagement approaches to enhance trust and increase Gypsy/Travellers’ participation in health services. The reviews will consider any economic literature; 2. Online consultation with health and social care practitioners, and civil society organisations on existing engagement activities, including perceptions of barriers and good practice; 3. Four in-depth case studies of different Gypsy/Traveller communities, focusing on maternity, early years and child dental health services. The case studies include the views of 32–48 mothers of pre-school children, 32–40 healthcare providers and 8–12 informants from third sector organisations. 4. Two stakeholder workshops exploring whether policy options are realistic, sustainable and replicable. Case study data will be analysed thematically informed by the evaluative framework derived from the realist synthesis in stage one. The main outputs will be: a) an evaluative framework of Gypsy/Travellers’ engagement with health services; b) recommendations for policy and practice; c) evidence on which to base future implementation strategies including estimation of costs. Discussion Our novel multi-method study seeks to provide recommendations for policy and practice that have potential to improve uptake and delivery of health services, and to reduce lifetime health inequalities for Gypsy/Travellers. The findings may have wider resonance for other marginalised populations. Strengths and limitations of the study are discussed

Improving equity and cultural responsiveness with marginalized communities: a position paper.

Aim: The aim of this paper is to explore the impact of culture on health, healthcare provision and its contribution towards health inequity experienced by some marginalised communities. Background: Health inequity is a global issue, which occurs across and within countries, and is the greatest barrier to worldwide health and the development of the human race. In response to this challenge, there is an international commitment to ensure universal health coverage based on the fundamental principle that individuals should be able to access healthcare services they need. Despite this, there is clear evidence that indigenous and other cultural minorities such as New Zealand Māori and Gypsy Roma Travellers still experience far poorer health outcomes when compared to the majority population. Furthermore, when they do access health care, their experiences are often not positive and this in turn results in reluctance to access preventative health care, instead accessing health services much later, reducing treatment options and compounding higher mortality rates. What is often not explored or examined is the impact of the different cultural beliefs of individuals in these communities and the nurses caring for them. Design: This is a position paper drawing upon research experience with New Zealand Māori and Gypsy Roma Travellers. We critically review the experiences of health inequity of marginalised communities. It does so by examining how these communities may have a different world view to the nurses caring for them and it is this lack of understanding and valuing of alternative worldviews that contributes to the poorer health outcomes both communities face. Conclusion and relevance to clinical practice: As nurses work with many different individuals and groups we have to find ways of ensuring a more embracing, culturally responsive health care environment which respects and values the beliefs of others