IL23R polymorphisms influence phenotype and response to therapy in patients with ulcerative colitis

Objective - We aimed to identify the clinical and genetic [IL23 receptor (IL23R) single nucleotide polymorphisms (SNPs)] predictors of response to therapy in patients with ulcerative colitis. Patients and methods - A total of 174 patients with ulcerative colitis, 99 women and 75 men, were included. The mean age of the patients was 47±15 years and the mean disease duration was 11±9 years. The number of patients classified as responders (R) or nonresponders (NR) to several therapies was as follows: 110 R and 53 NR to mesalazine (5-ASA), 28 R and 20 NR to azathioprine (AZT), 18 R and 7 NR to infliximab. Clinical and demographic variables were recorded. A total of four SNPs were studied: IL23R G1142A, C2370A, G43045A, and G9T. Genotyping was performed by real-time PCR using Taqman probes. Results - Older patients were more prone to respond to 5-ASA (P=0.004), whereas those with pancolitis were less likely to respond to such therapies (P=0.002). Patients with extraintestinal manifestations (EIMs) were less likely to respond to 5-ASA (P=0.001), AZT (P=0.03), and corticosteroids (P=0.06). Carriers of the mutant allele for IL23R SNPs had a significantly higher probability of developing EIMs (P<0.05), a higher probability of being refractory to 5-ASA (P<0.03), but a higher likelihood of responding to AZT (P=0.05). A significant synergism was observed between IL23R C2370A and EIMs with respect to nonresponse to 5-ASA (P=0.03). Conclusion - Besides extent of disease and age at disease onset, the presence of EIMs may be a marker of refractoriness to 5-ASA, corticosteroids, and AZT. IL23R SNPs are associated both with EIMs and with nonresponse to 5-ASA and corticosteroids.

Familial amyloid polyneuropathy (FAP): clinical features, pathophysiology and treatment

In the literature, concepts of “polyneuropathy”, “peripheral neuropathy” and “neuropathy” are often mistakenly used as synonyms. Polyneuropathy is a specific term that refers to a relatively homogenous process that affects multiple peripheral nerves. Most of these tend to present as symmetric polyneuropathies that first manifest in the distal portions of the affected nerves. Many of these distal symmetric polyneuropathies are due to toxic-metabolic causes such as alcohol abuse and diabetes mellitus. Other distal symmetric polyneuropathies may result from an overproduction of substances that result in nerve pathology such as is observed in anti-MAG neuropathy and monoclonal gammopathy of undetermined significance. Other “overproduction” disorders are hereditary such as noted in the Portuguese type of familial amyloid polyneuropathy (FAP). FAP is a manifestation of a group of hereditary amyloidoses; an autosomal dominant, multisystemic disorder wherein the mutant amyloid precursor, transthyretin, is produced in excess primarily by the liver. The liver accounts for approximately 98% of all transthyretin production. FAP is confirmed by detecting a transthyretin variant with a methionine for valine substitution at position 30 [TTR (Met30)]. Familial Amyloidotic Polyneuropathy (FAP) – Portuguese type was first described by a Portuguese neurologist, Corino de Andrade in 1939 and published in 1951. Most persons with this disorder are descended from Portuguese sailors who sired offspring in various locations, primarily in Sweden, Japan and Mallorca. Their descendants emigrated worldwide such that this disorder has been reported in other countries as well. More than 2000 symptomatic cases have been reported in Portugal. FAP progresses rapidly with an average time course from symptom onset to multi-organ involvement and death between ten and twenty years. Treatments directed at removing this aberrant protein such as plasmapheresis and immunoadsorption proved to be unsuccessful. Liver transplantation has been the only effective solution as evidenced by almost 2000 liver transplants performed worldwide. A therapy for FAP with a novel agent, “Tafamidis” has shown some promise in ongoing phase III clinical trials. It is well recognized that regular physical activity of moderate intensity has a positive effect on physical fitness as gauged by body composition, aerobic capacity, muscular strength and endurance and flexibility. Physical fitness has been reported to result in the reduction of symptoms and lesser impairment when performing activities of daily living. Exercise has been advocated as part of a comprehensive approach to the treatment of chronic diseases. Therefore, this chapter concludes with a discussion of the role of exercise training on FAP.

Clinical and functional aspects of work-related musculoskeletal disorders among active workers

OBJECTIVE: To evaluate musculoskeletal disorders among active industrial workers. METHODS: The study was carried out in São Carlos, Southeastern Brazil, in 2005. One hundred and thirty-four female workers were physically evaluated and answered questions about their physical symptoms, filled out a pain scale and gave responses in the Oswestry Disability Questionnaire, and the Work Ability Index questionnaire. The data were analyzed descriptively, and in correlation tests and through applying logistic regression. The outcome was evaluated in relation to the perceptions of pain, symptoms, physical assessment, ability to work and disability. RESULTS: Clinical evaluations and sick leave presented positive correlations with the subjective variables. The Work Ability Index presented a negative correlation with the physical disability index (r=-0.69). Symptoms reported at the time of the assessment presented a good correlation with the results from the pain scale and the clinical findings. Previous sick leave showed an association with disability (OR=1.13; 95% CI:1.08;1.18). CONCLUSION: Symptom reports and pain scales may be useful for assessing current conditions at the time of evaluating individuals with work-related musculoskeletal disorders, as they are easier to apply. In more severe cases of such injuries, clinical and functional evaluations and questionnaires such as those relating to ability to work and disability are preferable. Precise and specific evaluations of these disorders may contribute towards fairer legal and administrative decisions.

HIV testing among pregnant women in Brazil: rates and predictors

OBJECTIVE: To assess rates of offering and uptake of HIV testing and their predictors among women who attended prenatal care. METHODS: A population-based cross-sectional study was conducted among postpartum women (N=2,234) who attended at least one prenatal care visit in 12 cities. Independent and probabilistic samples were selected in the cities studied. Sociodemographic data, information about prenatal care and access to HIV prevention interventions during the current pregnancy were collected. Bivariate and multivariate analyses were carried out to assess independent effects of the covariates on offering and uptake of HIV testing. Data collection took place between November 1999 and April 2000. RESULTS: Overall, 77.5% of the women reported undergoing HIV testing during the current pregnancy. Offering of HIV testing was positively associated with: previous knowledge about prevention of mother-to-child transmission of HIV; higher number of prenatal care visits; higher level of education and being white. HIV testing acceptance rate was 92.5%. CONCLUSIONS: The study results indicate that dissemination of information about prevention of mother-to-child transmission among women may contribute to increasing HIV testing coverage during pregnancy. Non-white women with lower level of education should be prioritized. Strategies to increase attendance of vulnerable women to prenatal care and to raise awareness among health care workers are of utmost importance.

Happiness, hope, and affection as predictors of quality of life and functionality of individuals with heart failure at three-month follow-up

The scientific evidence supporting the management of the chronically ill in a positive psychological perspective in opposition to traditional pathological approach is scarce. This study examines issues associated with recovery of health status in heart failure, in particular hope, affection, and happiness. We use a longitudinal study of 128 symptomatic patients who after medical intervention reported improved quality of life and function at 3-month follow-up. We evaluated the contribution of happiness, hope and affection, individually and as a whole, in the quality of life and functionality of individuals with heart failure. Happiness (Subjective Happiness Scale), Hope (HOPE Scale), and affection (PANAS (positive and negative affect schedule)) were determined before medical intervention. Individually, we found that happiness is correlated with the quality of life and functionality, hope to self-efficacy dimension of the quality of life scale, positive affect to functionality and negative affect with symptoms dimension, quality of life dimension, and overall sum of the quality of life scale. Overall, we found that happiness has a unique contribution to the quality of life, except in self-efficacy dimension where hope takes this contribution and positive affect has a unique contribution to the functionality in this short-term follow-up. The results highlight the importance of positive variables to health outcomes for people with heart failure and should be considered in intervention programs for this syndrome.

Factores psicossociais preditivos de ajustamento à vida de pessoas com doenças crónicas

Doenças crónicas são de longa duração, de progressão lenta e induzem alterações na vida das pessoas, que são confrontadas com um conjunto de fatores que exercem um impacto negativo na sua qualidade de vida (QdV). A QdV é um conceito envolvendo componentes essenciais da qualidade humana: físicas, psicológicas, sociais, culturais e espirituais. Após o diagnóstico e com a doença estabilizada, os doentes procuram novas formas de lidar com esta. Este estudo teve como objetivo identificar fatores psicossociais preditivos (otimismo, afeto positivo e negativo, adesão aos tratamentos, suporte social e espiritualidade) da QdV (bem-estar geral, saúde física, saúde mental) e bem-estar subjetivo (BES) em pessoas com doenças crónicas. Amostra constituída por 774 indivíduos [30% diabetes, 27,1% cancro, 17,2% diabetes, 12% epilepsia, 11,5% esclerose múltipla e 2,2% miastenia, 70,5% do sexo feminino, idade M(DP)=42,9(11,6), educação M(DP)=9,6(4,7), anos diagnóstico M(DP)=12,8(9,7), classificação da doença M(DP)=6,6 (2,8)], recrutados nos hospitais centrais portugueses. Aplicando Modelos de Equações Estruturais e ajustando para variáveis sociodemográficas e clínicas, verificou-se que, pessoas mais otimistas, mais ativas e com uma melhor adesão aos tratamentos apresentam um melhor bem-estar geral, uma melhor saúde mental e um melhor bem-estar subjetivo; uma melhor adesão aos tratamentos contribui para uma melhor saúde física; melhor suporte social reflete-se numa melhor saúde mental; pessoas com mais espiritualidade apresentam uma melhor saúde física e uma melhor saúde mental. Estas conclusões contribuem para a definição de uma terapia que pode ajudar a uma melhor adaptação dos protocolos de tratamento para atender às necessidades dos doentes.

Molecular screening of 246 Portuguese Aspergillus isolates among different clinical and environmental sources

Clinical and environmental samples from Portugal were screened for the presence of Aspergillus and the distributions of the species complexes were determined in order to understand how their distributions differ based on their source. Fifty-seven Aspergillus isolates from clinical samples were collected from 10 health institutions. Six species complexes were detected by internal transcribed spacer sequencing; Fumigati, Flavi, and Nigri were found most frequently (50.9%, 21.0%, and 15.8%, respectively). β-tubulin and calmodulin sequencing resulted in seven cryptic species (A. awamorii, A. brasiliensis, A. fructus, A. lentulus, A. sydowii, A. tubingensis, Emericella echinulata) being identified among the 57 isolates. Thirty-nine isolates of Aspergillus were recovered from beach sand and poultry farms, 31 from swine farms, and 80 from hospital environments, for a total 189 isolates. Eleven species complexes were found in these 189 isolates, and those belonging to the Versicolores species complex were found most frequently (23.8%). There was a significant association between the different environmental sources and distribution of the species complexes; the hospital environment had greater variability of species complexes than other environmental locations. A high prevalence of cryptic species within the Circumdati complex was detected in several environments; from the isolates analyzed, at least four cryptic species were identified, most of them growing at 37ºC. Because Aspergillus species complexes have different susceptibilities to antifungals, knowing the species-complex epidemiology for each setting, as well as the identification of cryptic species among the collected clinical isolates, is important. This may allow preventive and corrective measures to be taken, which may result in decreased exposure to those organisms and a better prognosis.

Relação entre bem-estar, adesão ao tratamento e funcionamento sexual na epilepsia

Cada vez mais os profissionais de saúde aspiram contribuir para o maior bem-estar possível dos seus doentes. Neste contexto, torna-se indispensável identificar variáveis, idealmente passíveis de ser modificadas, que estejam relacionadas com o bem-estar dos doentes. Assim, o objectivo do presente estudo é explorar a relação entre bem-estar geral (BEG), adesão ao tratamento (AT) e funcionamento sexual (FS) em indivíduos com epilepsia. Foram avaliados 79 indivíduos com epilepsia (59,5% do sexo feminino; idade: M = 36,10, DP = 11,09; diagnóstico (anos): M = 19,72, DP = 11,50), recorrendo a um Questionário Sócio-demográfico e Clínico, ao Índice de Bem-estar Pessoal, à Medida de Adesão aos Tratamentos e à Escala de Funcionamento Sexual da Multiple Sclerosis Quality of Life Scale com 54 itens (MSQOL-54). Verificaram-se bons indicadores globais de BEG, AT e FS na amostra. Verificaram-se correlações estatisticamente significativas entre o BEG e: a AT (rs(75) = 0,37, p ≤ 0,001) e o FS feminino (rs(35) = -0,44, p ≤ 0,008). Não se verificou uma correlação estatisticamente significativa entre BEG e FS masculino. Ao analisar os indicadores parciais, verificou-se que o FS masculino se correlacionava apenas com a satisfação com a segurança do seu futuro (rs(31) = -0,40, p ≤ 0,03), enquanto o FS feminino se correlacionava com este indicador (rs(35) = -0,36, p ≤ 0,04), com a satisfação com o seu nível de vida (rs(34) = -0,37, p ≤ 0,04) e com a satisfação com a sua vida espiritual ou com a sua religião (rs(35) = -0,40, p ≤ 0,02). Sem esquecer o efectivo da amostra e os indicadores genericamente positivos da mesma, os presentes resultados sugerem que a promoção da AT pode saldar-se por melhorias no BEG dos indivíduos com epilepsia. Já a intervenção ao nível do FS parece apenas promissora, ao nível do BEG, para as doentes. Novas variáveis devem ser exploradas, para que se consigam identificar os melhores preditores do BEG (de amostras mais amplas) destes doentes.

Pregnancy rates and predictors in women with HIV/AIDS in Rio de Janeiro, Southeastern Brazil

OBJECTIVE: To assess incidence and predictors of first pregnancy among women with HIV/AIDS. METHODS: Prospective cohort study was conducted in Rio de Janeiro, southeastern Brazil, between 1996 and 2003. This study comprised 225 women with HIV/AIDS followed up until their first pregnancy or first censored event (hysterectomy, tubal ligation, menopause, 50 years of age, loss to follow-up, death or the end of December 2003). Pregnancy and abortion rates were estimated, and Cox proportional hazards models were used to identify baseline characteristics associated with pregnancy risk. RESULTS: The women were followed up for 565 person/years with a median follow-up of 3 years per women. The mean age was 32 years (SD: 7), and 54.7% were white. There were 60 pregnancies in 39 women, and 18 were terminated (induced abortions), accounting for a rate of 6.9% and 2.1% women/year, respectively. Repeated pregnancies occurred in 33.3% of the women (13/39). Higher pregnancy risk was seen among younger women (HR=3.42; 95%CI: 1.69;6.95) and those living with their partners (HR=1.89; 95%CI: 1.00;3.57). Lower pregnancy risk was associated with higher education level (HR=0.43; 95%CI: 0.19;0.99) and use of antiretroviral therapy (HR=061; 95%CI: 0.31;1.17). CONCLUSIONS: Lower pregnancy rates were found in our cohort than in the general population. Sociodemographic characteristics should be taken into consideration in the management of reproductive health in HIV-positive childbearing age women. Reproductive and family planning counseling must be incorporated into HIV/AIDS programs for women to help preventing HIV transmission to their partners and offspring.

Indicadores prognósticos na hipertensão pulmonar

Mestrado em Tecnologia de Diagnóstico e Intervenção Cardiovascular - Ramo de especialização: Intervenção Cardiovascular

Relatório de estágio de natureza profissional em PET/CT: Clinical Imaging Sciences Centre, Sussex

Mestrado em Medicina Nuclear - Ramo de especialização: Tomografia por Emissão de Positrões

An electrochemical deamidated gliadin antibody immunosensor for celiac disease clinical diagnosis

The first electrochemical immunosensor (EI) for the detection of antibodies against deamidated gliadin peptides (DGP) is described here. A disposable nanohybrid screen-printed carbon electrode modified with DGP was employed as the transducer's sensing surface. Real serumsampleswere successfully assayed and the results were corroborated with an ELISA kit. The presented EI is a promising analytical tool for celiac disease diagnosis.

Tissue composition and density impact on the clinical parameters for 125I prostate implants dosimetry

The MCNPX code was used to calculate the TG-43U1 recommended parameters in water and prostate tissue in order to quantify the dosimetric impact in 30 patients treated with (125)I prostate implants when replacing the TG-43U1 formalism parameters calculated in water by a prostate-like medium in the planning system (PS) and to evaluate the uncertainties associated with Monte Carlo (MC) calculations. The prostate density was obtained from the CT of 100 patients with prostate cancer. The deviations between our results for water and the TG-43U1 consensus dataset values were -2.6% for prostate V100, -13.0% for V150, and -5.8% for D90; -2.0% for rectum V100, and -5.1% for D0.1; -5.0% for urethra D10, and -5.1% for D30. The same differences between our water and prostate results were all under 0.3%. Uncertainties estimations were up to 2.9% for the gL(r) function, 13.4% for the F(r,θ) function and 7.0% for Λ, mainly due to seed geometry uncertainties. Uncertainties in extracting the TG-43U1 parameters in the MC simulations as well as in the literature comparison are of the same order of magnitude as the differences between dose distributions computed for water and prostate-like medium. The selection of the parameters for the PS should be done carefully, as it may considerably affect the dose distributions. The seeds internal geometry uncertainties are a major limiting factor in the MC parameters deduction.

Failure on clinical image quality criteria in digital mammography: how can radiographers do better?

Purpose: To assess image quality using PGMI (perfect, good, moderate, inadequate) scale in digital mammography examinations acquired in DR systems. Identify the main failures and propose corrective actions. Evaluate the most typical breast density. Methods and Materials: Clinical image quality criteria were evaluated considering mammograms acquired in 13 DR systems and classified according to PGMI scale using the criteria described in European Commission guidelines for radiographers. The breast density was assessed according to ACR recommendations. The data were collected on the acquisition system monitor to reproduce the daily practice of the radiographer. Results: The image quality criteria were evaluated in 3044 images. The criteria were fully achieved in 41% of the images that were classified as P (perfect), 31 % of the images were classified as M (moderate), 20% G (good) and 9% I (inadequate). The main cause of inadequate image quality was absence of all breast tissue in the image, skin folders in the pectoral muscle and in the infra-mammary angle. The higher number of failures occurred in MLO projections (809 out of 1022). The most represented (36%) breast type was type 2 (25-50% glandular tissue). Conclusion: Incorrect radiographic technique was frequently detected suggesting potential training needs and poor communication between the team members (radiographer and radiologists). Further correlations are necessary to identify the main causes for the failures, namely specific education and training in digital mammography and workload.