ACTN3R577X polymorphism and long-term survival in patients with chronic heart failure

Abstract Background Previous studies have shown the occurrence of actinin-3 deficiency in the presence of the R577X polymorphism in the ACTN3 gene. Our hypothesis is that this deficiency, by interfering with the function of skeletal muscle fiber, can result in a worse prognosis in patients with chronic heart failure. Methods A prospective cohort study was conducted from 2002 to 2004. The eligibility criteria included diagnosis of chronic heart failure stage C from different etiologies. We excluded all patients with concomitant disease that could be related to poor prognosis. ACTN3 rs1815739 (R577X) polymorphism was detected by high resolution melting analysis. Survival curves were calculated with the Kaplan-Meier method and evaluated with the log-rank statistic. The relationship between the baseline variables and the composite end-point of all-cause death was assessed using a Cox proportional hazards survival model. Results A total of 463 patients were included in this study. The frequency of the ACTN3 577X variant allele was 39.0%. The LVEF mean was 45.6 ± 18.7% and the most common etiology of this study was hypertensive. After a follow-up of five years, 239 (51.6%) patients met the pre-defined endpoint. Survival curves showed higher mortality in patients carrying RX or XX genotypes compared with patients carrying RR genotype (p = 0.01). Conclusion R577X polymorphism in the ACTN3 gene was independently associated with worse survival in patients with chronic heart failure. Further studies are necessary to ensure its use as a marker of prognosis for this syndrome

Time For Chocolate: Current Understanding And New Perspectives On Cacao Witches' Broom Disease Research

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Theobroma cacao is a tropical understory tree that is one of the most important perennial crops in agriculture. Treasured by ancient civilizations in Mesoamerica for over 3,000 years, the cocoa bean now supports a multibillion-dollar industry that is involved in the production and commercialization of chocolate, a treat appreciated worldwide. The cacao tree is originally from the Amazon rainforest and is currently grown in more than 50 countries throughout the humid tropics, serving as a major source of income for over 40 million people. Each year, more than 3 million tons of cocoa beans are produced, mostly by smallholder farmers in areas of high biodiversity. Notably, the cacao tree does not require direct sunlight and naturally grows under the canopy of other, taller trees. This characteristic often encourages farmers to preserve existing forests and to plant additional trees to shelter their cacao plants [1], thereby reducing the environmental impacts of cacao cultivation. Despite its great importance, the cacao tree is affected by a number of untreatable diseases that reduce fruit production and threaten our global supply of cacao. Among them, witches' broom disease (WBD) stands out as one of the most severe problems that affect this crop, accounting for production losses of up to 90%.1110Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)FAPESP [09/50119-9]CNPq [475535/2013-8

Association between UCP2 A55V polymorphism and risk of cardiovascular events in patients with multi-vessel coronary arterial disease

Background\ud UCP2 (uncoupling protein 2) plays an important role in cardiovascular diseases and recent studies have suggested that the A55V polymorphism can cause UCP2 dysfunction. The main aim was to investigate the association of A55V polymorphism with cardiovascular events in a group of 611 patients enrolled in the Medical, Angioplasty or Surgery Study II (MASS II), a randomized trial comparing treatments for patients with coronary artery disease and preserved left ventricular function.\ud \ud Methods\ud The participants of the MASS II were genotyped for the A55V polymorphism using allele-specific PCR assay. Survival curves were calculated with the Kaplan–Meier method and evaluated with the log-rank statistic. The relationship between baseline variables and the composite end-point of cardiac death, acute myocardial infarction (AMI), refractory angina requiring revascularization and cerebrovascular accident were assessed using a Cox proportional hazards survival model.\ud \ud Results\ud There were no significant differences for baseline variables according genotypes. After 2 years of follow-up, dysglycemic patients harboring the VV genotype had higher occurrence of AMI (p=0.026), Death+AMI (p=0.033), new revascularization intervention (p=0.009) and combined events (p=0.037) as compared with patients carrying other genotypes. This association was not evident in normoglycemic patients.\ud \ud Conclusions\ud These findings support the hypothesis that A55V polymorphism is associated with UCP2 functional alterations that increase the risk of cardiovascular events in patients with previous coronary artery disease and dysglycemia.Financial support provided in part by a research grant from the Zerbini Foundation, Sao Paulo, Brazil. PCJLS is recipient from fellowship from FAPESP, Proc. 2010-17465-8, Sao Paulo, Brazil

Práticas com simulações computacionais para melhoria de desempenho para luidar com situações emergênciais

Este artigo é um recorte de uma proposta de pesquisa que visa utilizar a simulação computacional como ferramenta de apoio para o processo ensino-aprendizagem. A pesquisa envolveu 48 participantes. Na fase de diagnóstico preliminar, aproximadamente 80% dos estudantes avaliaram que o uso das simulações facilitaria ou facilitaria muito o aprendizado teórico-prático, 16% já utilizaram esse recurso durante os estudos e todos gostariam de ter acesso aos mesmos durante às aulas, porém 62% relataram que entendem pouco sobre o uso dessas ferramentas no processo de aprendizado. Já na fase de protótipo da simulação, os participantes foram submetidos a um pré-teste e um pós-teste com onze questões objetivas referentes a situações emergenciais relacionadas à crise convulsiva e crise asmática. A média de acertos no pré-teste, ou seja, antes de participar da simulação foi 5,15 (DP:1,77). Após participarem das simulações a média de acertos passou para 8,93 (DP:1,6; p<0,01). Concluiu-se que simulação não está sendo utilizada no contexto educacional dos participantes desta pesquisa. Os resultados da aplicação do experimento mostraram uma melhoria de desempenho dos participantes de modo a poder afirmar que as simulações podem contribuir para o aprendizado sobre atendimento pré-hospitalar nas emergências médicas do tipo crise convulsiva e crise asmática.This paper is a clipping of a research proposal that aims to use computational simulation as a support tool for the teaching-learning process. The survey involved 48 participants. In the preliminary diagnostic phase, approximately 80% of the students evaluated that the use of the simulations would facilitate or greatly facilitate the theoretical-practical learning, 16% already used this during the studies and everyone would like to have access to them during the classes, but 62 % reported that they understand little about the use of these tools in the learning process. Already in the prototype phase of the simulation, the participants were submitted to a pre-test and a post-test with eleven objective questions regarding emergency situations related to the convulsive crisis and asthmatic crisis. The average of pre-test hits, that is, before participating in the simulation was 5.15 (DP: 1.77). After participating in the simulations, the mean number of hits increased to 8.93 (DP: 1.6, p <0.01). It was concluded that simulation is not being used in the educational context of the participants of this research. The results of the application of the experiment showed an improvement in the performance of the participants in order to be able to affirm that the simulations can contribute to the learning about prehospital care in the medical emergencies of type convulsive crisis and asthmatic crisis

Unilateral Atrial Ectopic Rhythm in a Golden Retriever

Background: Atrial ectopic rhythm is a type of supraventricular arrhythmia, originating in two distinct points in the atrial region. In the electrocardiographic (ECG) tracing, it is represented by independent depolarizations of sinus P waves and ectopic P waves. The occurrence of this disorder is rare, and the diagnosis criteria are the presence of the described waves within the basal rhythm. In humans, there have been reports related to severe heart failure with an unfavorable prognosis. The present report aimed to describe the clinical case of a dog with unilateral atrial ectopic rhythm without any underlying cardiac disorder.Case: A 8-year-old male golden retriever was brought to a veterinary clinic for a preoperative evaluation for lipoma removal in the right forelimb. On clinical examination, the owner stated that the patient was active, with no signs of easy fatigue or cough. The canine displayed normophagy, normodipsia, normoquezia, and normouria. On physical examination, he demonstrated a lymphatic temperament with tachypnea. The temperature and capillary filling time were within the normal range, with a normokinetic pulse. Cardiac auscultation revealed a mild grade I/VI murmur in mitral focus and an 80-bpm heart rate. Respiratory auscultation revealed the presence of harshy lung sounds. The cough reflex was positive; the Piparote test, negative. The blood test showed no noticeable changes in blood count and serum biochemistry. Systemic systolic blood pressure was 120 mmHg. On radiographic examination, no evidence of heart or lung abnormalities were identified. After the clinical evaluation, an ECG examination was performed; a unilateral atrial ectopic rhythm was observed with different frequencies between atrial and ventricular rhythm and with P (164°) and P waves (80°). On echocardiographic examination, no morphological abnormalities were seen, though trivial mitral insufficiency was identified in a color Doppler study. Blood was collected to measure electrolytes to check for possible electrolytic abnormalities; the results were within the normal range. The patient was released for and remained stable throughout the procedure, maintaining the rhythm detected during the transoperatory time. Upon reassessment in a new ECG examination, the arrhythmia persisted, suggesting that a primary lesion in the atrial tissue was present.Discussion: An atrial ectopic rhythm diagnosis requires a detailed study with the aim of ruling out heart diseases that may affect the propagation of the cardiac stimulus. However, no morphological or functional abnormalities of note that justified triggering stimuli for the ectopic rhythm were observed. In addition, based on the echocardiographic evaluation, myocardial function was preserved, supporting the canine’s release for the procedure. The suspicion of hydroelectrolytic alteration and hypoxia was present after discarding structural causes, though it was discarded due to normal laboratory results. The presence of ectopic P waves was due to the non-interference in the sinus P’ waves; consequently, they were found in the sinus heart rhythm. Upon assessing the ectopic P wave frequency, the atrial rhythm frequency was higher than the heart rate, juxtaposing the different irregular intervals within the atrial cycle. The rhythm alone may explain that its severity can be linked to the physical findings. This indicated that they did not influence the presentation of ectopia since the cardiac output, controlled by the sinus rhythm part, was responsible for maintaining the rhythm and the demand of the organism; the electrical conduction system, responsible for atrial systole, represents 15-25% of the blood ejection for the ventricular filling. Patients with rhythm disorders as described need guidance and follow-up for the early detection of clinical signs resulting from the destabilization of the condition.Keywords: atrial dissociation, supraventricular arrhythmia, electrocardiogram, dogs

Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis

Background: Hereditary hemochromatosis (HH) encompasses a group of autosomal recessive disorders mainly characterized by enhanced intestinal absorption of iron and its accumulation in parenchymal organs. HH diagnosis is based on iron biochemical and magnetic resonance imaging (MRI) assessment, and genetic testing. Questionnaires, such as SF-36 (short form health survey), have been increasingly used to assess the impact of diseases on the patient's quality of life (QL). In addition, different genotypes are identified as results of genetic tests in patients with suspected primary iron overload. In the present study, our aim was to evaluate whether domains of QL are different according to genotypic groups in patients suspected of HH. Methods: Seventy-nine patients with primary iron overload were included and two genotypic groups were formed (group 1: homozygous genotype for the HFE p.Cys282Tyr mutationgroup 2: other genotypes). Results: Group 1 had higher means of plasma transferrin saturation (86 +/- 19%) and serum ferritin (1669 +/- 1209 ng/mL) compared to group 2 (71 +/- 12%, 1252 +/- 750 ng/mL, respectivelyp = 0.001). Four domains were significantly different among groups 1 and 2: physical functioning (p = 0.03), bodily pain (p = 0.03), vitality (p = 0.02) and social functioning (p = 0.01). Conclusions: Our main finding was that patients with p. Cys282Tyr homozygosity had a worse QL scenario assessed by SF-36, compared with patients with iron overload without the same genotype. Being aware of this relationship between genotypes and QL might be helpful in the overall management of patients suspected of hereditary hemochromatosis.Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES) [2013/09295-3]Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP), Brazil [2013/20614-3]Univ Sao Paulo, Heart Inst InCor, Lab Genet & Mol Cardiol, Med Sch, Av Doutor Eneas de Carvalho Aguiar 44, BR-05403900 Sao Paulo, SP, BrazilSanta Casa Med Sch, Hematol & Hemotherapy Sect, Sao Paulo, BrazilAcad Ciencia & Tecnol, Sao Jose Do Rio Preto, BrazilFundacao Pro Sangue, Hemoctr Sao Paulo, Sao Paulo, SP, BrazilUniv Sao Paulo, Sao Paulo, SP, BrazilUniv Sao Paulo, Med Sch, Hosp Clin, Hematol Serv, Sao Paulo, BrazilUniv Sao Paulo, Med Sch, Hosp Clin, Hematol & Hemotherapy Discipline, Sao Paulo, BrazilUniv Rennes, Pontchaillou Univ Hosp, Liver Dis Unit, Rennes, FranceNatl Reference Ctr Rare Iron Overload Dis Genet O, Rennes, FranceUniv Fed Sao Paulo UNIFESP, Dept Pharmacol, Sao Paulo, BrazilUniv Fed Sao Paulo UNIFESP, Dept Pharmacol, Sao Paulo, BrazilCAPES: 2013/09295-3FAPESP: 2013/20614-3Web of Scienc

Impact of diabetes mellitus on arterial stiffness in a representative sample of an urban Brazilian population

Background\ud Independent of other cardiovascular (CV) risk factors, increased arterial stiffness has been established as a predictor of morbidity and mortality. The main aim of this study was to investigate the impact of diabetes on arterial stiffness in a representative sample of an urban Brazilian population plus Amerindians.\ud \ud Methods\ud A total of 1,415 individuals from the general population were randomly selected plus 588 Amerindians from a native community in Brazil. In addition, a sub-sample of 380 individuals from the general population had 5-year follow-up data. Pulse wave velocity (PWV) was measured with a non-invasive automatic device (Complior, Colson; Garges les Gonesses, France) and increased arterial stiffness was defined as PWV ≥ 12 m/s.\ud \ud Results\ud In the overall group, diabetic individuals had higher frequencies of increased arterial stiffness and hypertension. They also had higher values of PWV, body mass index, total cholesterol, triglycerides, systolic and diastolic blood pressures compared to non-diabetic individuals (p < 0.01). In an analysis stratified by hypertension, PWV values and increased arterial stiffness frequency were higher in diabetic individuals in both groups (hypertensive and non-hypertensive) (p < 0.05). Furthermore, higher risk for increased arterial stiffness was observed in the diabetic individuals from the overall group (OR = 2.27; CI = 1.47-3.52, p < 0.001) and from the hypertensive group (OR = 2.70; CI = 1.58-4.75, p < 0.001), adjusted for covariates. Regarding the ethnic stratification, diabetic individuals from Amerindian, White, and Mulatto (mixed-race) groups had higher PWV values and a greater frequency of increased arterial stiffness compared to non-diabetic individuals. Both diabetic and non-diabetic individuals had higher PWV values after 5 years. There was no significant difference in the 5-year PWV progression in diabetic compared to non-diabetic individuals.\ud \ud Conclusions\ud These results confirm, in a sample of Brazilian population, that the presence of diabetes is associated with increased arterial stiffness and it may contribute in part to increased cardiovascular risk in diabetic patients.PCJL Santos is the recipient of a fellowship from FAPESP, Proc. 2010-17465-8, Brazil. The technical assistance of the Laboratory of Genetics and Molecular Cardiology group, Heart Institute group is gratefully acknowledged

User satisfaction on the use of hypermedia in a health-education mobile device application

O uso da tecnologia na área da saúde tem crescido cada vez mais. Os dispositivos móveis possibilitam que as pessoas aprendam em qualquer lugar e a qualquer tempo. OBJETIVO: investigar a satisfação do usuário quanto ao uso de hipermídias para a aprendizagem de educação em saúde por meio de dispositivo móvel. MÉTODO: contou com 4 partes. Na primeira, foi aplicado um questionário pré-teste, em seguida houve a interação com as hipermídias, posteriormente aplicou-se o questionário pós-teste. Por fim, os participantes avaliaram a satisfação quanto ao uso das hipermídias. RESULTADOS: os resultados obtidos demonstraram que os participantes consideraram as hipermídias atraentes, desejadas, que elas promovem o sentimento de integração e aproximação, bem como tem um enorme valor em sua aplicação. CONCLUSÕES: a pesquisa demonstrou que o uso das hipermídias em dispositivos móveis para o aprendizado em cuidados em saúde é uma solução criativa, atrativa e eficaz e aprimora o processo ensino-aprendizagem.The use of technology in healthcare has been growing more each day. Mobile devices make it possible for anyone to learn anywhere, anytime. OBJECTIVE: to investigate user satisfaction regarding the use of hypermedia for learning health education through mobile devices. METHODS: It consisted of 4 parts. At first, a pre-test questionnaire was applied, then there was the interaction with the hypermedia, later the post-test questionnaire was conducted. Finally, participants rated their satisfaction in regard to the use of hypermedia. RESULTS: findings showed that the participants considered the hypermedia appealing, desirable, promoted a feeling of integration and closeness, and had an enormous value in their application. CONCLUSIONS: this study demonstrated that the use of hypermedia on mobile devices for learning in healthcare is a creative, appealing, and effective solution. Also, it improves the teaching-learning process

Pharmaceutical Care Increases Time in Therapeutic Range of Patients With Poor Quality of Anticoagulation With Warfarin

Thromboembolic events are associated with high mortality and morbidity indexes. In this context, warfarin is the most widely prescribed oral anticoagulant agent for preventing and treating these events. This medication has a narrow therapeutic range and, consequently, patients usually have difficulty in achieving and maintaining stable target therapeutics. Some studies on the literature about oral anticoagulant management showed that pharmacists could improve the efficiency of anticoagulant therapy. However, the majority of these studies included general patients retrospectively. The aim of this study was to prospectively evaluate a pharmacist’s warfarin management in patients with poor quality of anticoagulation therapy (Time in the Therapeutic Range- TTR &lt; 50%). We included 268 patients with atrial fibrillation (AF) and without stable dose of warfarin (TTR &lt; 50%, based on the last three values of International Normalized Ratio-INR). We followed them up for 12 weeks, INR values were evaluated and, when necessary, the dose adjustments were performed. During the first four visits, patient’s INR was measured every 7 days. Then, if INR was within the target therapeutic range (INR: 2–3), the patient was asked to return in 30 days. However, if INR was out the therapeutic target, the patient was asked to return in 7 days. Adherence evaluation was measured through questionnaires and by counting the pills taken. Comparison between basal TTR (which was calculated based on the three last INR values before prospective phase) and TTR of 4 weeks (calculated by considering the INR tests from visits 0 to 4, in the prospective phase of the study) and basal TTR and TTR of 12 weeks (calculated based on the INR tests from visits 0 to 12, in the prospective phase of the study) revealed significant statistical differences (0.144 ± 0.010 vs. 0.382 ± 0.016; and 0.144 ± 0.010 vs. 0.543 ± 0.014, p &lt; 0.001, respectively). We also observed that the mean TTR of 1 year before (retrospective phase) was lower than TTR value after 12 weeks of pharmacist-driven treatment (prospective phase) (0.320 ± 0.015; 0.540 ± 0.015, p &lt; 0.001). In conclusion, pharmaceutical care was able to improve TTR values in patients with AF and poor quality of anticoagulation with warfarin