A telehealth strategy for increasing adherence in the treatment of hypertension in primary care.

OBJECTIVE: This study describes and analyzes a telehealth strategy for Family Health Teams (FHTs) providing primary care services. This strategy aimed to increase the adherence to the treatment of hypertension. SUBJECTS AND METHODS: We conducted a before-after study that enrolled 21 professionals and 502 hypertensive patients in two of the Family Health Units connected to our Telehealth Center Network. Seminars addressing the treatment adherence of hypertension were offered by Web conferences, for a period of 6 months, to the FHTs. The adherence to antihypertensive drugs, low salt diet, and physical activity was measured by specific questionnaires. The rates of adherence were assessed before and after a continuing education program (CEP). After the telehealth intervention, 17 professionals and 465 patients were re-evaluated. RESULTS: The participation in the question and answer session, after the seminar, was significant. The qualitative evaluation of the sessions by FHTs showed 87.5% of great/good. There was a trend toward a greater critical understanding of the results and targets set for the team, although at insignificant levels. The rates of adherence to antihypertensive medication, physical activity, and sodium control, before and after the CEP, were 37.8% versus 46.7% (p<0.004), 90.3% versus 89.9% (p=0.90), and 92.2% versus 96.3% (p<0.001), respectively. CONCLUSIONS: The adherence to antihypertensive drugs and low salt diet improved after the CEP. Preliminarily, this telehealth strategy suggests a positive impact on hypertensive patients.

Decreased Serum Levels of Soluble Oncostatin M Receptor (sOSMR) and Glycoprotein 130 (sgp130) in Patients with Coronary Artery Disease. / Diminuição dos Níveis Séricos do Receptor Solúvel da Oncostatina M (sOSMR) e Glicoproteína 130 (sgp130) em Pacientes com Doença Arterial Coronariana.

BACKGROUND: Oncostatin M (OSM) is a pleiotropic cytokine which, after arterial injury, has proven to be to be rapidly expressed. OBJECTIVES: To correlate the serum levels of OSM, soluble OSM receptor (sOSMR), and soluble fraction of glycoprotein 130 (sgp130) in patients with coronary artery disease (CAD) with clinical parameters. METHODS: Levels of sOSMR and sgp130 were evaluated by ELISA and OSM by Western Blot, in patients with CCS (n=100), patients with ACS (n=70), and 64 control volunteers without clinical manifestations of the disease. P-values < 0.05 were considered to be statistically significant. RESULTS: CAD patients exhibited significantly lower levels of sOSMR and sgp130 and higher levels of OSM when compared to the controls (both p < 0.0001). Clinical analysis displayed, lower levels of sOSMR in men ([OR] = 2.05, p = 0.026), youth (OR = 1.68, p = 0.0272), hypertensives (OR = 2.19, p = 0.041), smokers (OR = 2.19, p = 0.017), patients that did not present dyslipidemia (OR = 2.32, p = 0.013), patients with Acute Myocardial Infarction [AMI] (OR = 3.01, p = 0.001) and patients not treated with statin (OR = 1.95, p = 0.031), antiplatelet agent (OR = 2.46, p = 0.005), inhibitors of calcium channels (OR = 3.15, p = 0.028), and antidiabetic drugs (OR = 2.97, p = 0.005). The levels of sOSMR were also correlated with gender, age, hypertension, and use of medications in multivariate analysis. CONCLUSIONS: Our data suggest that the enhanced serum levels of OSM, and decreased levels of sOSMR and sGP130 in patients with cardiac injury may play an important role in the pathophysiological mechanism of the disease. Furthermore, lower levels of sOSMR were associated with gender, age, hypertension, and the use of medications.

FUNDAMENTO: A oncostatina M (OSM) é uma citocina pleiotrópica que, após lesão arterial, demonstra ser expressa rapidamente. OBJETIVOS: Correlacionar os níveis séricos da OSM, do receptor solúvel de oncostatina M (sOSMR) e da fração solúvel de glicoproteína 130 (sgp130) em pacientes com doença arterial coronariana (DAC) a parâmetros clínicos. MÉTODOS: Os níveis de sOSMR e sgp130 foram avaliados por ELISA, enquanto os de OSM foram avaliados por Western Blot, em pacientes com SCC (n=100), pacientes com SCA (n=70) e 64 voluntários do grupo de controle sem manifestações clínicas da doença. Valores de p <0,05 foram considerados estatisticamente significativos. RESULTADOS: Pacientes com DAC exibiram níveis significativamente mais baixos de sOSMR e sgp130 e níveis mais altos de OSM em comparação ao grupo de controle (ambos p <0,0001). A análise clínica mostrou níveis mais baixos de sOSMR em homens ([OR] = 2,05, p = 0,026), jovens (OR = 1,68, p = 0,0272), hipertensos (OR = 2,19, p = 0,041), fumantes (OR = 2,19, p = 0,017), pacientes que não apresentavam dislipidemia (OR = 2,32, p = 0,013), pacientes com infarto agudo do miocárdio [IAM] (OR = 3,01, p = 0,001) e pacientes não tratados com estatina (OR = 1,95, p = 0,031), antiplaquetário (OR = 2,46, p = 0,005), inibidores dos canais de cálcio (OR = 3,15, p = 0,028) e antidiabéticos (OR = 2,97, p = 0,005). Os níveis de sOSMR também foram correlacionados a sexo, idade, hipertensão e uso de medicamentos na análise multivariada. CONCLUSÕES: Nossos dados sugerem que o aumento dos níveis séricos de OSM e a diminuição dos níveis de sOSMR e sGP130 em pacientes com injúria cardíaca podem desempenhar um papel importante no mecanismo fisiopatológico da doença. Além disso, níveis mais baixos de sOSMR foram associados a sexo, idade, hipertensão e uso de medicamentos.

Orthostatic changes in blood pressure and survival in elderly cardiopaths.

OBJECTIVE: The objective of this study was to analyze the association between orthostatic changes in blood pressure and mortality in elderly cardiopath patients. METHODS: A cohort of 455 elderly cardiopath patients, monitored at a referral outpatient cardiology clinic in Pernambuco, Brazil, from October 2015 to July 2018. The exposure groups were formed according to their orthostatic changes in blood pressure following the requirements of the Brazilian Guidelines for Hypertension. RESULTS: Orthostatic hypotension was present in 46 patients (10.1%), 91 had orthostatic hypertension (20%), and 318 had no orthostatic alterations (69.9%). There were 52 deaths during follow-up. The results demonstrated that there was no statistically significant association between orthostatic hypotension and overall mortality (HR 1.30; 95%CI 0.53-3.14; p=0.567) nor between orthostatic hypertension and overall mortality (HR 0.95; 95%CI 0.65-1.39; p=0.34). Survival in relation to the exposure groups presented no statistically significant difference (p=0.504). CONCLUSION: There was a low frequency of orthostatic hypotension and a mild high frequency of orthostatic hypertension when compared with previous studies, and no association was observed with overall mortality or with the survival time of elderly patients with heart disease.

ICD indication in hypertrophic cardiomyopathy: which algorithm to use?

OBJECTIVE: This study aimed to evaluate the agreement in the indication of implantable cardioverter-defibrillators in patients with Hypertrophic cardiomyopathy, as per the 2014 European Society of Cardiology and 2020 American Heart Association recommendations, and evaluate fragmented QRS as a predictor of cardiovascular outcome. METHODS: Retrospective cohort with 81 patients was evaluated between 2019 and 2021. Patients with hypertrophic cardiomyopathy ≥16 years old were included. Exclusion criteria include secondary myocardiopathy and follow-up <1 year. Kappa coefficient was used to determine the agreement. Survival and incidence curves were determined by Kaplan-Meier method. A p<0.05 was considered significant. RESULTS: The fragmented QRS was identified in 44.4% of patients. There were no differences between patients with and without fragmented QRS regarding clinical parameters, echocardiography, fibrosis, and sudden cardiac death risk. During follow-up of 4.8±3.4 years, there was no sudden cardiac death, but 20.6% patients with implantable cardioverter-defibrillator had at least one appropriate shock. Three of the seven appropriate shocks occurred in European Society of Cardiology low- to moderate-risk patients. Three shocks occurred in moderate-risk patients and four in American Heart Association high-risk patients. Overall recommendations agreement was 64% with a kappa of 0.270 (p=0.007). C-statistic showed no differences regarding the incidence of appropriate shock (p=0.644). CONCLUSION: sudden cardiac death risk stratification algorithms present discrepancies in implantable cardioverter-defibrillator indication, both with low accuracy.

Triggering receptor expressed on myeloid cells-1 as pediatric sepsis biomarker.

OBJECTIVE: Triggering receptor expressed on myeloid cells-1 concentration can be used as a predictive, diagnostic, and prognostic marker in patients with sepsis. The objective of this study was to determine the validity of triggering receptor expressed on myeloid cells-1 levels as a biomarker of sepsis in pediatric patients. METHODS: This was an integrative literature review. PubMed, ScienceDirect, LILACS, MEDLINE, and VHL databases were searched for papers published between 2015 and 2020, using the keywords triggering receptor expressed on myeloid cells-1, sepsis, and child. RESULTS: The review included ten studies, of which four used triggering receptor expressed on myeloid cells-1 as a predictive biomarker; four, as a diagnostic biomarker; and two, as a prognostic biomarker. A total of 1,409 and 1,628 patients were included in primary and review studies, respectively. There was a predominance of significant results for the validity of triggering receptor expressed on myeloid cells-1 levels in the prediction, diagnosis, and prognosis of sepsis in pediatric patients. CONCLUSIONS: Triggering receptor expressed on myeloid cells-1 is a valid predictive, diagnostic, and prognostic biomarker of sepsis with good sensitivity and specificity in the pediatric population.

GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?

BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the alpha galactosidase A gene (GLA) that lead to the enzymatic deficiency of alpha galactosidase (α-Gal A), resulting in the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), causing multiple organ dysfunctions. OBJECTIVE: To perform GLA gene screening in a group of patients with echocardiographic diagnosis of hypertrophic cardiomyopathy (HCM). METHODS: a cross-sectional study was conducted with HCM patients from a university hospital. Patients with coronary artery disease and valvulopathies were excluded. Mutation analysis of the GLA gene was performed. In male subjects, the analysis was performed after evidence of low α-Gal A activity. RESULTS: 60 patients with echocardiographic diagnosis of HCM were included. Age ranged from 12 to 85 years and 60% were women. Mean myocardial fibrosis percentage on MRI was 10.7 ± 13.1% and mean ventricular thickness was18.7 ± 6.7 mm. Four patients had the following GLA gene mutations: c.967C>A (p.Pro323Thr), not yet described in the literature; c.937G>T (p.Asp313Tyr); and c.352C>T (p.Arg118Cys). All patients had normal levels of lyso-Gb3 and non-ischemic myocardial fibrosis on magnetic resonance imaging; one patient had proteinuria and one patient had ventricular tachycardia. CONCLUSION: in this study, the frequency of mutation in the GLA gene in patients with HCM was 6.7%. A novel mutation in exon 6 of the GLA gene, c.967C>A (p.Pro323Thr), was identified. Patients with HCM may have GLA mutations and FD should be ruled out. Plasma (lyso-Gb3) levels do not seem to be sufficient to attain a diagnosis and organ biopsy should be considered.

Diminuição dos Níveis Séricos do Receptor Solúvel da Oncostatina M (sOSMR) e Glicoproteína 130 (sgp130) em Pacientes com Doença Arterial Coronariana / Decreased Serum Levels of Soluble Oncostatin M Receptor (sOSMR) and Glycoprotein 130 (sgp130) in Patients with Coronary Artery Disease

Resumo Fundamento A oncostatina M (OSM) é uma citocina pleiotrópica que, após lesão arterial, demonstra ser expressa rapidamente. Objetivos Correlacionar os níveis séricos da OSM, do receptor solúvel de oncostatina M (sOSMR) e da fração solúvel de glicoproteína 130 (sgp130) em pacientes com doença arterial coronariana (DAC) a parâmetros clínicos. Métodos Os níveis de sOSMR e sgp130 foram avaliados por ELISA, enquanto os de OSM foram avaliados por Western Blot, em pacientes com SCC (n=100), pacientes com SCA (n=70) e 64 voluntários do grupo de controle sem manifestações clínicas da doença. Valores de p <0,05 foram considerados estatisticamente significativos. Resultados Pacientes com DAC exibiram níveis significativamente mais baixos de sOSMR e sgp130 e níveis mais altos de OSM em comparação ao grupo de controle (ambos p <0,0001). A análise clínica mostrou níveis mais baixos de sOSMR em homens ([OR] = 2,05, p = 0,026), jovens (OR = 1,68, p = 0,0272), hipertensos (OR = 2,19, p = 0,041), fumantes (OR = 2,19, p = 0,017), pacientes que não apresentavam dislipidemia (OR = 2,32, p = 0,013), pacientes com infarto agudo do miocárdio [IAM] (OR = 3,01, p = 0,001) e pacientes não tratados com estatina (OR = 1,95, p = 0,031), antiplaquetário (OR = 2,46, p = 0,005), inibidores dos canais de cálcio (OR = 3,15, p = 0,028) e antidiabéticos (OR = 2,97, p = 0,005). Os níveis de sOSMR também foram correlacionados a sexo, idade, hipertensão e uso de medicamentos na análise multivariada. Conclusões Nossos dados sugerem que o aumento dos níveis séricos de OSM e a diminuição dos níveis de sOSMR e sGP130 em pacientes com injúria cardíaca podem desempenhar um papel importante no mecanismo fisiopatológico da doença. Além disso, níveis mais baixos de sOSMR foram associados a sexo, idade, hipertensão e uso de medicamentos.

Abstract Background Oncostatin M (OSM) is a pleiotropic cytokine which, after arterial injury, has proven to be to be rapidly expressed. Objectives To correlate the serum levels of OSM, soluble OSM receptor (sOSMR), and soluble fraction of glycoprotein 130 (sgp130) in patients with coronary artery disease (CAD) with clinical parameters. Methods Levels of sOSMR and sgp130 were evaluated by ELISA and OSM by Western Blot, in patients with CCS (n=100), patients with ACS (n=70), and 64 control volunteers without clinical manifestations of the disease. P-values < 0.05 were considered to be statistically significant. Results CAD patients exhibited significantly lower levels of sOSMR and sgp130 and higher levels of OSM when compared to the controls (both p < 0.0001). Clinical analysis displayed, lower levels of sOSMR in men ([OR] = 2.05, p = 0.026), youth (OR = 1.68, p = 0.0272), hypertensives (OR = 2.19, p = 0.041), smokers (OR = 2.19, p = 0.017), patients that did not present dyslipidemia (OR = 2.32, p = 0.013), patients with Acute Myocardial Infarction [AMI] (OR = 3.01, p = 0.001) and patients not treated with statin (OR = 1.95, p = 0.031), antiplatelet agent (OR = 2.46, p = 0.005), inhibitors of calcium channels (OR = 3.15, p = 0.028), and antidiabetic drugs (OR = 2.97, p = 0.005). The levels of sOSMR were also correlated with gender, age, hypertension, and use of medications in multivariate analysis. Conclusions Our data suggest that the enhanced serum levels of OSM, and decreased levels of sOSMR and sGP130 in patients with cardiac injury may play an important role in the pathophysiological mechanism of the disease. Furthermore, lower levels of sOSMR were associated with gender, age, hypertension, and the use of medications.

ICD indication in hypertrophic cardiomyopathy: which algorithm to use?

SUMMARY OBJECTIVE: This study aimed to evaluate the agreement in the indication of implantable cardioverter-defibrillators in patients with Hypertrophic cardiomyopathy, as per the 2014 European Society of Cardiology and 2020 American Heart Association recommendations, and evaluate fragmented QRS as a predictor of cardiovascular outcome. METHODS: Retrospective cohort with 81 patients was evaluated between 2019 and 2021. Patients with hypertrophic cardiomyopathy ≥16 years old were included. Exclusion criteria include secondary myocardiopathy and follow-up <1 year. Kappa coefficient was used to determine the agreement. Survival and incidence curves were determined by Kaplan-Meier method. A p<0.05 was considered significant. RESULTS: The fragmented QRS was identified in 44.4% of patients. There were no differences between patients with and without fragmented QRS regarding clinical parameters, echocardiography, fibrosis, and sudden cardiac death risk. During follow-up of 4.8±3.4 years, there was no sudden cardiac death, but 20.6% patients with implantable cardioverter-defibrillator had at least one appropriate shock. Three of the seven appropriate shocks occurred in European Society of Cardiology low- to moderate-risk patients. Three shocks occurred in moderate-risk patients and four in American Heart Association high-risk patients. Overall recommendations agreement was 64% with a kappa of 0.270 (p=0.007). C-statistic showed no differences regarding the incidence of appropriate shock (p=0.644). CONCLUSION: sudden cardiac death risk stratification algorithms present discrepancies in implantable cardioverter-defibrillator indication, both with low accuracy.

Orthostatic changes in blood pressure and survival in elderly cardiopaths

SUMMARY OBJECTIVE: The objective of this study was to analyze the association between orthostatic changes in blood pressure and mortality in elderly cardiopath patients. METHODS: A cohort of 455 elderly cardiopath patients, monitored at a referral outpatient cardiology clinic in Pernambuco, Brazil, from October 2015 to July 2018. The exposure groups were formed according to their orthostatic changes in blood pressure following the requirements of the Brazilian Guidelines for Hypertension. RESULTS: Orthostatic hypotension was present in 46 patients (10.1%), 91 had orthostatic hypertension (20%), and 318 had no orthostatic alterations (69.9%). There were 52 deaths during follow-up. The results demonstrated that there was no statistically significant association between orthostatic hypotension and overall mortality (HR 1.30; 95%CI 0.53-3.14; p=0.567) nor between orthostatic hypertension and overall mortality (HR 0.95; 95%CI 0.65-1.39; p=0.34). Survival in relation to the exposure groups presented no statistically significant difference (p=0.504). CONCLUSION: There was a low frequency of orthostatic hypotension and a mild high frequency of orthostatic hypertension when compared with previous studies, and no association was observed with overall mortality or with the survival time of elderly patients with heart disease.

Intima-Media Thickness in the Carotid and Femoral Arteries for Detection of Arteriosclerosis in Human Immunodeficiency Virus-Positive Individuals.

BACKGROUND: The prevalence of atherosclerosis is higher in HIV-positive people, who also experience it earlier than the general population. OBJECTIVES: To assess and compare the prevalence of atherosclerosis evaluated by the intima-media thickness of carotid and femoral arteries, and by the ankle-brachial pressure index (ABPI) in HIV patients treated or not treated with protease inhibitors (PIs) and controls. METHODS: Eighty HIV+ subjects (40 using PIs and 40 not using PIs) and 65 controls were included in the study. Atherosclerosis was diagnosed by (carotid and femoral) ITM measurement and ABPI. Classical risk factors for atherosclerosis and HIV were compared between the groups by statistical tests. A p ≤ 0.05 was considered significant. RESULTS: An IMT > P75 or the presence of plaque was higher in the HIV+ than in the control group (37.5% vs 19%, p = 0.04). Comparative analysis showed a significant difference (p=0.014) in carotid IMT between HIV+ with PIs (0.71 ± 0.28 mm), without PIs 0.63 ± 0.11 mm and, and controls (0.59 ± 0.11 mm). There was no significant difference in femoral IMT between the groups or in ABPI between HIV+ subjects and controls. However, a significant difference (p=0.015) was found between HIV+ patients not treated with PIs (1.17 [1.08 - 1.23]), and controls 1.08 [1.07 - 1.17]). CONCLUSION: In HIV patients, atherosclerosis is more prevalent and seems to occur earlier with particular characteristics compared with HIV-negative subjects.

Use of honey associated with Ananas comosus (Bromelin) in the treatment of acute irritative cough. / Uso do mel de abelha associado ao Ananas comosus (Bromelin) no tratamento da tosse irritativa aguda.

OBJECTIVE: To evaluate the immediate improvement rate of irritative cough in patients treated with the combination of Ananas comosus extract and honey (Bromelin®) compared with the use of honey alone (placebo group). METHODS: Pragmatic, double-blind, randomized, parallel-group study with children aged between 2 and 15 years, with irritative cough for at least 24hours. The double-blind assessment of cough was through the number of observed coughing episodes and intensity score for a period of 10minutes of observation. The decrease of one point in the mean total score was considered as a therapeutic effect. RESULTS: There was a reduction in coughing episodes in both groups, as well as in the cough score after 30minutes of drug or honey administration. The change in clinical score above two points, which could indicate marked improvement, occurred in five patients in the bromelin group and only in one in the placebo group, but without significant difference. There were no adverse events. CONCLUSIONS: The immediate improvement rate of irritative cough was similar in patients treated with combination of Ananas comosus extract and honey (Bromelin®) compared with the use of honey alone (placebo group). It is possible that honey has a therapeutic effect on mucus and cough characteristics (Clinical Trials: NCT01356693).

Impact of topical nifedipine on wound healing in animal model (pig) / Impacto da nifedipina tópica na cicatrização de feridas em modelo animal (porco)

Abstract Background The human skin is an extremely sophisticated and evolved organ that covers the whole body. External agents or the patient's own diseases can cause skin injuries that can challenge healthcare professionals and impose high social, economic and emotional costs. Objectives To evaluate the impact of topical nifedipine on skin wound healing, specifically on polymorphonuclear cells, vascular proliferation, and collagen. Methods We used three pigs, and created eight injuries in the dorsal region of each animal. We applied 1%, 10%, and 20% concentration nifedipine creams to four of the wounds in animals 1, 2, and 3 respectively and treated the other twelve wounds with saline solution 0.9% only. We analyzed the presence of polymorphonuclear cells, vascular proliferation, and collagen at six different times (days 1, 3, 7, 14, 21, and 28). Results The evaluation of polymorphonuclear levels showed mild cell activity at all times in the control group, while in the nifedipine groups, marked levels were more frequent at all times during the experiment. There was a 4.84-fold increase in the chance of marked vascular proliferation (p = 0.019) and, at the same time, a decrease in collagen formation (OR 0.02 / p = 0.005) in animal 3. Conclusions Topical NFD may have an impact on skin wound healing mechanisms. Our study showed that polymorphonuclear cells and vascular proliferation increased. We also demonstrated that collagen formation decreased. Therefore, topical NFD may have a positive impact on skin wound healing. Additional studies are needed to confirm our results.

Resumo Contexto A pele humana é um órgão extremamente sofisticado e evoluído que cobre todo o corpo. As lesões cutâneas podem ser causadas por agentes externos ou pelas próprias doenças do paciente, e podem representar um desafio para os profissionais de saúde com altos custos sociais, econômicos e emocionais. Objetivos Avaliar o impacto da nifedipina tópica na cicatrização de feridas cutâneas, especialmente em relação a polimorfonucleares, proliferação vascular e colágeno. Métodos Utilizamos três porcos e realizamos oito ferimentos na região dorsal de cada animal. Aplicamos as concentrações de nifedipina creme a 1%, 10% e 20% para os animais 1, 2 e 3, respectivamente, sendo que, em quatro ferimentos, aplicamos o creme e, nos outros quatro ferimentos, apenas soro fisiológico a 0,9%. Analisamos a presença de polimorfonucleares, proliferação vascular e colágeno em seis momentos diferentes (dias 1, 3, 7, 14, 21 e 28). Resultados A avaliação dos níveis polimorfonucleares mostrou atividade celular discreta em todos os momentos no grupo controle, enquanto nos grupos nifedipina, os níveis marcados foram mais frequentes em todos os momentos do experimento. Houve aumento de 4,84 vezes na chance de uma produção marcada (p = 0,019) da proliferação vascular e, ao mesmo tempo, diminuição da formação do colágeno (odds ratio, OR 0,02; p = 0,005) no animal 3. Conclusões A nifedipina tópica pode ter impacto no mecanismo de cicatrização cutânea. Nosso estudo mostrou que há aumento dos polimorfonucleares e da proliferação vascular. Além disso, há diminuição da formação do colágeno. Assim, a nifedipina tópica pode ter impacto positivo na cicatrização das feridas cutâneas. Estudos adicionais são necessários para confirmar nossos resultados.

GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease? / Mutação do Gene GLA na Cardiomiopatia Hipertrófica com Descrição de Nova Variante: É Doença de Fabry?

Abstract Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the alpha galactosidase A gene (GLA) that lead to the enzymatic deficiency of alpha galactosidase (α-Gal A), resulting in the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), causing multiple organ dysfunctions. Objective: To perform GLA gene screening in a group of patients with echocardiographic diagnosis of hypertrophic cardiomyopathy (HCM). Methods: a cross-sectional study was conducted with HCM patients from a university hospital. Patients with coronary artery disease and valvulopathies were excluded. Mutation analysis of the GLA gene was performed. In male subjects, the analysis was performed after evidence of low α-Gal A activity. Results: 60 patients with echocardiographic diagnosis of HCM were included. Age ranged from 12 to 85 years and 60% were women. Mean myocardial fibrosis percentage on MRI was 10.7 ± 13.1% and mean ventricular thickness was18.7 ± 6.7 mm. Four patients had the following GLA gene mutations: c.967C>A (p.Pro323Thr), not yet described in the literature; c.937G>T (p.Asp313Tyr); and c.352C>T (p.Arg118Cys). All patients had normal levels of lyso-Gb3 and non-ischemic myocardial fibrosis on magnetic resonance imaging; one patient had proteinuria and one patient had ventricular tachycardia. Conclusion: in this study, the frequency of mutation in the GLA gene in patients with HCM was 6.7%. A novel mutation in exon 6 of the GLA gene, c.967C>A (p.Pro323Thr), was identified. Patients with HCM may have GLA mutations and FD should be ruled out. Plasma (lyso-Gb3) levels do not seem to be sufficient to attain a diagnosis and organ biopsy should be considered.

Resumo Fundamento: A doença de Fabry (DF) é uma doença de armazenamento lisossômico ligada ao cromossomo X, devido a mutações no gene da alfa galactosidase A (GLA), levando a deficiência enzimática de alfa-galactosidase (α-Gal A) e acúmulo de globotriaosilceramida (Gb3) e globotriaosilsulfingosina (liso-Gb3), causando disfunção de múltiplos órgãos. Objetivo: realizar a triagem do gene GLA em um grupo de pacientes com diagnóstico ecocardiográfico de cardiomiopatia hipertrófica (CMH). Métodos: estudo transversal realizado com pacientes com CMH em um hospital universitário. Pacientes com doença arterial coronariana e valvopatias foram excluídos. Foi realizada análise de mutação do gene GLA. Em indivíduos do sexo masculino, a análise foi realizada após evidência de baixa atividade de α-Gal A. Resultados: Foram incluídos 60 pacientes com diagnostico ecocardiográfico de CMH. A idade variou de 12 a 85 anos e 60% eram mulheres. O percentual médio de fibrose miocárdica na RM foi 10,7 ± 13,1% e a espessura ventricular média foi 18,7 ± 6,7 mm. Quatro pacientes tinham as seguintes mutações do GLA: c.967C>A (p.Pro323Thr), ainda não descrita na literatura; c.937G>T (p.Asp313Tyr); e c.352C>T (p.Arg118Cys). Todos os pacientes apresentavam níveis normais de liso-Gb3 e fibrose miocárdica não isquêmica na ressonância magnética; um paciente apresentou proteinúria; um paciente apresentou taquicardia ventricular. Conclusão: Neste estudo, a frequência de mutação no gene GLA em pacientes com CMH foi 6,7%. Uma nova mutação no exon 6 do gene GLA, c.967C>A (p.Pro323Thr), foi identificada. Pacientes com CMH podem ter mutações do GLA e a DF deve ser excluída. Os níveis plasmáticos de (liso-Gb3) não parecem ser suficientes para fazer um diagnóstico e biópsia de órgãos deve ser considerada.

Association between ankle-brachial index and carotid atherosclerotic disease.

BACKGROUND: The association between the ankle brachial index (ABI) and the measurement of intimal medial thickness (IMT) has not been fully studied. OBJECTIVE: We aimed to evaluate whether the prevalence of carotid atherosclerosis was higher in patients with ABI < 0.9 than in those with ABI > 0.9. METHODS: From January 2011 to December 2011, 118 patients (48 men and 70 women) were enrolled. ABI and IMT Measurements were performed in all patients. Patients were divided in Group 1 (ABI < 0.9) and Group 2 (ABI > 0.9) according to ABI values. Mann-Whitney, Chi-square and Fischer tests were used for comparison among the groups. Pearson's correlation was used to assess correlation between ABI and IMT. RESULTS: The prevalence of ABI < 0.9 was 29.7%, whereas carotid atherosclerosis > 1.5 mm was 34.7 %. Clinical characteristics were similar between groups 1 and 2: mean age (64 ± 9 vs. 62 ± 7.2 years, p = 0.1), male gender (40% vs. 41%, p = 0.9), hypertension (74% vs. 59%, p = 0.1), diabetes mellitus (54% vs. 35%, p = 0.051), dyslipidemia (26% vs. 24%, p = 0.8), smoking (57% vs. 65%, p = 0.4). The prevalence of carotid atherosclerosis was higher in group 1 (48.6% vs. 28.9%, p = 0.04). Pearson's correlation between ABI and IMT was -0.235, with a p value = 0.01. CONCLUSION: Patients with ABI < 0.9 showed a higher prevalence of carotid atherosclerosis. There was a negative correlation between ABI and IMT.

Associação entre Disfunção Erétil e Piora na Qualidade de Vida de Pacientes com Doença Arterial Coronariana / Association between Erectile Dysfunction and Quality of Life in Patients with Coronary Artery Disease

Fundamentos: A disfunção erétil (DE) e a doença arterial coronariana (DAC) compartilham os mesmos fatores de risco e as associações entre DE, qualidade de vida (QV) e DAC têm sido motivo de estudos recentes. Objetivo: Avaliar se a DE está associada a piora da QV em pacientes com DAC. Métodos: Estudo transversal, multicêntrico, prospectivo e analítico, realizado de dezembro de 2014 a abril de 2016, que recrutou 304 homens (idade média: 57 ± 9,9 anos) com diagnóstico clínico de DAC. A QV foi avaliada através do Short Form-36 e a DE pelo Índice Internacional de Função Erétil. Foram realizadas análises estatísticas descritiva e analítica, sendo que o teste não paramétrico Kruskal-Wallis foi usado para analisar se existem diferenças significativas em cada domínio de qualidade de vida quando se comparam os diferentes tipos de DE. Para todos os testes, valor de p ≤ 0,05 foi considerado significante. Resultados: A prevalência de DE foi de 76,3%. As medianas e percentis 25 e 75 de cada domínio de qualidade de vida de acordo com a ausência de DE, DE leve, leve a moderada, moderada e grave, respectivamente, foram: Capacidade funcional: 85 (63-100), 75 (50-95), 60 (32-85), 55 (35-75), 50 (30-70), p < 0,001; Aspectos físicos: 87 (0-100), 40 (0-100), 0 (0-100), 0 (0-31), 0 (0-12), p < 0,001; Dor: 72 (51-100), 66 (51-100), 74 (51-100), 62 (51-100), 51 (31-62), p = 0,001; Estado geral de saúde: 77 (62-87), 72 (57-77), 67 (55-82), 67 (59-75), 52 (37-68), p < 0,001; Vitalidade: 75 (60-85), 65 (50-75), 65 (55-75), 60 (43-75), 50 (32-65), p < 0,001; Aspectos sociais: 87 (62-100), 87 (62-100), 87 (68-100), 75 (62-100), 75 (50-93), p = 0,139; Aspectos emocionais: 100 (58-100), 100 (33-100), 100 (33-100), 100 (0-100), 0 (0-100), p = 0,001; Saúde mental: 80 (67-89), 72 (60-84), 72 (66-80), 68 (58-80), 56 (50-74), p < 0,001. Conclusões: A prevalência de disfunção erétil foi elevada. A DE esteve associada a piora da QV em pacientes com DAC

Background: Erectile dysfunction (ED) and coronary artery disease (CAD) share the same risk factors and the associations between ED, quality of life (QoL) and CAD have been the subject of recent studies. Objective: To evaluate whether ED is associated with worsening QoL in patients with CAD. Methods:A cross-sectional, multicenter, prospective and analytic study was carried out from EDcember 2014 to April 2016, which recruited 304 men (mean age: 57 ± 9.9 years) with clinical diagnosis of CAD. QoL was assessed using Short Form-36 and ED by the International Erectile Function InEDx. EDscriptive and analytical statistical analyzes were performed, and the Kruskal-Wallis non-parametric test was used to test whether there are significant differences in each quality of life domain when comparing different types of ED. For all tests, p ≤ 0.05 was consiEDred significant. Results: The prevalence of ED was 76.3%. The median and percentiles 25 and 75 of each life quality domain according to the absence of ED; mild ED, mild to moderate, moderate and severe ED and severe ED, respectively, were: Functional capacity: 85 (63-100), 75 (50 -95), 60 (32-85), 55 (35-75), 50 (30-70), p < 0.001; Physical aspects: 87 (0-100), 40 (0-100), 0 (0-100), 0 (0-31), 0 (0-12), p < 0.001; Pain: 72 (51-100), 66 (51-100), 74 (51-100), 62 (51-100), 51 (31-62), p = 0.001; General state of health: 77 (62-87), 72 (57-77), 67 (55-82), 67(59-75), 52 (37-68), p < 0.001; Vitality: 75 (60-85), 65 (50-75), 65 (55-75), 60 (43-75), 50 (32-65), p < 0.001; Social Aspects: 87 (62-100), 87 (62-100), 87 (68-100), 75 (62-100), 75 (50-93), p = 0.139; Emotional Aspects: 100 (58-100), 100 (33-100), 100 (33-100), 100 (0-100), 0 (0-100), p = 0.001; Mental health: 80 (67-89), 72 (60-84), 72 (66-80), 68 (58-80), 56 (50-74), p < 0.001. Conclusions: The prevalence of erectile dysfunction was high. ED was associated with worsening of QoL in patients with CAD

Intima-Media Thickness in the Carotid and Femoral Arteries for Detection of Arteriosclerosis in Human Immunodeficiency Virus-Positive Individuals / Espessamento Mediointimal nas Carótidas e Femorais para Detectar Aterosclerose em Pessoas que Vivem com o Vírus da Imunodeficiência Humana

Abstract Background: The prevalence of atherosclerosis is higher in HIV-positive people, who also experience it earlier than the general population. Objectives: To assess and compare the prevalence of atherosclerosis evaluated by the intima-media thickness of carotid and femoral arteries, and by the ankle-brachial pressure index (ABPI) in HIV patients treated or not treated with protease inhibitors (PIs) and controls. Methods: Eighty HIV+ subjects (40 using PIs and 40 not using PIs) and 65 controls were included in the study. Atherosclerosis was diagnosed by (carotid and femoral) ITM measurement and ABPI. Classical risk factors for atherosclerosis and HIV were compared between the groups by statistical tests. A p ≤ 0.05 was considered significant. Results: An IMT > P75 or the presence of plaque was higher in the HIV+ than in the control group (37.5% vs 19%, p = 0.04). Comparative analysis showed a significant difference (p=0.014) in carotid IMT between HIV+ with PIs (0.71 ± 0.28 mm), without PIs 0.63 ± 0.11 mm and, and controls (0.59 ± 0.11 mm). There was no significant difference in femoral IMT between the groups or in ABPI between HIV+ subjects and controls. However, a significant difference (p=0.015) was found between HIV+ patients not treated with PIs (1.17 [1.08 - 1.23]), and controls 1.08 [1.07 - 1.17]). Conclusion: In HIV patients, atherosclerosis is more prevalent and seems to occur earlier with particular characteristics compared with HIV-negative subjects.

Resumo Fundamento: Pessoas que vivem com o HIV (HIV +) têm maior prevalência de aterosclerose e a desenvolvem mais precocemente do que a população geral. Objetivos: Foi avaliar e comparar as prevalências de aterosclerose avaliada pela medida da espessura mediointimal (EMI) das carótidas comuns e femorais, e do índice tornozelo-braquial (ITB) nos grupos controle e HIV com e sem inibidores de protease (IPs). Métodos: Foram incluídas 80 pessoas com HIV + [40 usavam IPs e 40 não] e 65 controles. O diagnóstico de aterosclerose foi determinado pela medição da EMI (carótidas e femorais) e do ITB. Fatores de risco clássicos para aterosclerose e específicos para o HIV foram comparados entre os grupos, usando testes estatístcos. O valor de p ≤ 0,05 foi cosiderado significativo. Resultados: A EMI > P75 ou presença de placa foi mais elevada no grupo de HIV sem IP que no controle (37,5% vs 19%, p = 0,04). A análise comparativa mostrou diferença significativa (p=0,014) na EMI nas artérias carótidas entre HIV + com IPs (0,71 ± 0,28 mm), sem IPs (0,63 ± 0,11 mm) e controles (0,59 ± 0,11 mm), A EMI na femoral não teve diferença significante entre os grupos. Não houve diferença significante entre os grupos controle e de HIV + quanto ao ITB. No entanto, observou-se uma diferença significativa (p=0,015) no ITB entre os grupos HIV + sem IPs (1,17 [1,08 - 1,23]), e controles [1,08 (1,07 - 1,17)]. Conclusão: Em pacientes com HIV, a aterosclerose é mais prevalente e parece ocorrer mais precocemente, com características distintas, em comparação a indivíduos HIV-negativos.

Interleukin 17 A, hepatosplenic mansonic schistosomiasis and atherosclerosis / Interleucina 17 A, esquistossomose mansônica forma hepatoesplênica e aterosclerose

Objective: To evaluate serum concentrations of interleukin 17A (IL17A) in mansonic schistosomiasis patients, while the secondary objectives were to detect atherosclerotic disease, and to evaluate serum concentrations of interleukin 22 (IL22). Methods: This study included 30 patients with an established diagnosis of hepatosplenic mansonic schistosomiasis and 10 healthy volunteers. Comparative analyses of IL17A and IL22 concentrations were performed on the sera of patients and controls. Atherosclerosis was evaluated through carotid artery intima-media thickness measurement of the first 15 patients enrolled. Results: There were no differences in IL17 A concentrations (15.63±0.00pg/mL vs. 15.63±0.00pg/mL; p=1) and in IL22 concentrations (7.81±0.00pg/mL vs. 7.81±0.00pg/ mL, p=1) between patients and controls. The overall mean of intima-media thickness was 0.7±0.2mm. Conclusions: Serum concentrations of IL17A and IL22 were equal between patients and controls (undetectable or low concentrations). No patients had atheroma.

Objetivo: Avaliar as concentrações séricas de interleucina 17A (IL17A) em pacientes com esquistossomose mansônica, enquanto os objetivos secundários foram detectar a doença aterosclerótica e avaliar as concentrações séricas de interleucina 22 (IL22). Métodos: Este estudo incluiu 30 pacientes com diagnóstico estabelecido de esquistossomose mansônica em sua forma hepatoesplênica e 10 voluntários saudáveis. Análises comparativas de concentrações de IL17A e IL22 foram realizadas em soros de pacientes e controles. A aterosclerose foi avaliada pela medida do complexo íntima-média dos primeiros 15 pacientes recrutados. Resultados: Não houve diferença nas concentrações de IL17A (15,63±0,00pg/mL vs. 15,63±0,00pg/mL; p=1) e nas concentrações IL 2 (7,81±0,00pg/mL vs. 7,81±0,00pg/mL; p=1) entre os pacientes e controles. A média geral da espessura da camada média da íntima foi de 0,7±0,2mm. Conclusões: As concentrações séricas de IL17A e IL22 foram iguais entre pacientes e controles (concentrações indetectáveis ou baixa). Nenhum dos pacientes apresentou ateroma.