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.

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?

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.

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.

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.

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.

Estreia da terapia de reparo transcateter edge-to-edge nas valvas tricúspide e mitral em um único procedimento na América Latina: relato de caso / First performance of transcatheter edge-to-edge mitral and tricuspid valve repair in a single procedure in Latin America: case report

Apresentamos o caso debutante na América Latina de reparos transcateteres edge- to-edge nas valvas mitral e tricúspide em um único procedimento em paciente de alto risco para cirurgia. A paciente evoluía com insuficiência cardíaca e limitações em suas atividades diárias quando foi submetida ao procedimento, no qual foram realizados os reparos transcateteres das valvas mitral e tricúspide. Aos 6 meses de evolução, estava assintomática e realizando suas atividades diárias. Debatemos as recomendações mais atualizadas sobre a terapia transcateter para coexistência dessas doenças valvares, assim como expomos as lacunas no conhecimento.

We present the first case in Latin America of transcatheter edge-to-edge mitral and tricuspid valve repair in a single procedure, in a patient at high risk for surgery. The patient progressed to heart failure and limitation in her daily living activities when she was submitted to transcatheter mitral and tricuspid valve repair. Six months later, she was asymptomatic and performing her daily living activities. We discuss the most updated recommendations for transcatheter repair when both valvar conditions coexist, and show the knowledge gaps.

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.

How Can Galectin-3 as a Biomarker of Fibrosis Improve Atrial Fibrillation Diagnosis and Prognosis?

Galectin-3 (Gal-3) is a biomarker of fibrosis that has been associated with atrial remodeling. Acknowledging the presence of a biomarker in patients with atrial fibrillation (AF) can allow for a better clinical treatment. The aim of this study was to assess the association of Gal-3 with atrial fibrosis in patients with AF. This is a systematic review study. From the total number of studies analyzed, 12 demonstrated a relation between atrial fibrosis and Gal-3 in patients with AF and presented statistically significant association values. We conclude that Gal-3 is associated with atrial fibrosis in patients with AF in all types, as well as after the arrhythmia treatment by ablation.

Caveolin-1 (CAV-1) up regulation in metabolic syndrome: all roads leading to the same end.

Metabolic syndrome (MS) is a set of clinical conditions such as insulin resistance, hyperglycemia, systemic arterial hypertension (SAH), dyslipidemia, obesity and high abdominal circumference. Some of these clinical characteristics have been associated with caveolin-1, a caveolae structural protein, responsible for insulin activation, storage and degradation of cholesterol, and so on. Herein we assessed CAV-1 mRNA levels in MS patients comparing to healthy controls (HC) and according patients' clinical features. We included 87 patients in the study, 25 patients with MS, 30 patients with at least one clinical condition (diabetes, SAH, dyslipidemia, obesity and high abdominal circumference), 13 with two clinical conditions and 19 HC. CAV-1 mRNA levels from peripheral blood samples were assessed by Real Time qPCR using specific Taqman probe. The analysis was performed using ∆Cq method and the statistical tests Shapiro-Wilk, One-Way ANOVA and Mann-Whitney. We found CAV-1 increased mRNA levels in patients with MS (1.645 FC, p = 9.794 × 10-20) and even higher in patients with only one or two clinical conditions (2.215 FC, p = 1.215 × 10-32 and 1.716 FC, p = 4.197 × 10-05, respectively). When individual clinical conditions were observed, individuals with high abdominal circumference and obesity present a significantly up regulation when compared to HC (2.956 FC, p = 0.0004 and 3.643 FC, p = 0.002, respectively). This work indicates that CAV-1 gene expression from whole blood samples is associated to MS clinical conditions and may become a potential target for MS treatment and prevention.

Impact of topical nifedipine on wound healing in animal model (pig).

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.

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.

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?

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.

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.

Coronary Artery Thromboses, Stent Thrombosis and Antiphospholipid Antibody Syndrome: Case Report.

The antiphospholipid antibody syndrome (APS) is defined by a state of hypercoagulability secondary to an autoimmune disorder. There are evidences that approximately 2.8-5.5% of cases of acute myocardial infarction (AMI) in young individuals are secondary to APS. In this case report, three coronary artery thromboses occurring within a short period are described. Initially, there was an ST-segment elevation (STEMI) in the presence of coronary artery disease (CAD), with the vessel being treated with stent implantation. Thereafter, a subacute stent thrombosis occurred (high thrombotic load in almost all coronary arteries), which was treated with implantation of two stents. Subsequently, there was a new infarction owing to a new thrombosis in the native coronary artery. The treatment of APS in patients who developed thrombotic events is full anticoagulation from the initial stages maintained throughout life. The standard anticoagulant therapy is administration of vitamin K antagonists, such as warfarin.

Razões para não adesão a fármacos em pacientes com doença arterial coronariana / Reasons for medication noncompliance in patients with coronary artery disease

OBJETIVO: Descrever as razões da não adesão ao tratamento medicamentoso em pacientes com doença arterial coronariana crônica; a prevalência de não adesão às drogas; e os perfis clínico, social e econômico dos pacientes. MÉTODOS: Estudo transversal, prospectivo e descritivo realizado de julho a dezembro de 2015, com 130 pacientes (75% homens; idade 60,8±10,3 anos). As características clínicas dos pacientes foram coletadas por questionário clínico e a adesão medicamentosa por questionário de Morisky-Green. Foram realizadas análises estatísticas descritivas das variáveis. RESULTADOS: Noventa e seis pacientes (74%) foram não aderentes. A principais razões para não adesão foram: dificuldade em identificar o medicamento tomado em 86,4%% dos pacientes; destes, 43,3% relataram não saber o nome da medicação de que faziam uso contínuo, 27,7% relataram que o controle era feito pelo familiar, 15,6% identificavam o medicamento pelo tamanho e pela cor. Dos 96 pacientes não aderentes, 40% citaram o esquecimento como o maior motivo para a não aderência à terapia farmacológica, 11,4% citaram as condições financeiras. CONCLUSÃO: A prevalência de não adesão medicamentosa foi elevada, e as principais razões para não tomada adequada das medicações pelos pacientes foram: dificuldade na identificação dos medicamentos, esquecimento de tomar o remédio e dificuldade em aquisição das drogas.(AU)

OBJECTIVES: To describe the reasons for noncompliance to drug therapy in patients with chronic coronary artery disease; the prevalence of noncompliance to drugs; and patients' clinical, social and economic profile. METHODS: This is a cross-sectional, prospective and descriptive study carried out from July to December 2015, including 130 patients (75% of men, age 60.8±10.3 years). Patients' clinical characteristics were collected through a clinical questionnaire, and drug adherence through the Morisky-Green questionnaire. Descriptive statistical analyzes of the variables were performed. RESULTS: Ninetysix patients (74%) were noncomplaint to the pharmacological treatment. The main reasons for noncompliance were: difficulty in identifying the medication taken in 86.4% of the patients; of these, 43.3% reported not knowing the name of the medication they are taking; 27.7% reported that the control was done by a relative, 15.6% identified the medication by size and color. Of the 96 noncompliant patients, 40% reported forgetting as the main reason for noncompliance to pharmacological therapy, 11.4% mentioned financial conditions. CONCLUSION: The prevalence of noncompliance to drug therapy was high; in addition, the main reasons for not taking adequate medications were: difficulty in identifying medications, forgetting to take the medication, and difficulty in purchasing the drugs.(AU)