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1.
Am J Med Genet A ; : e63654, 2024 May 13.
Artículo en Inglés | MEDLINE | ID: mdl-38738944

RESUMEN

Filippi syndrome is a rare genetic disorder characterized by growth and neurodevelopmental delays, dysmorphism, and selective limb abnormalities. Although the syndrome was described approximately four decades ago, only a few families with molecularly confirmed diagnoses have been reported. In this article, we present three new patients of Filippi syndrome with unusual clinical and genetic aspects. These patients exhibited novel clinical features that have not previously been associated with Filippi syndrome, including renal hypoplasia/aplasia, renal cysts, renal cortical thinning, hypomelanotic, and hypermelanotic macules. All three patients had homozygous frameshift variants of the CKAP2L gene, specifically NM_152515.3: c.554_555del, c.981_982del, and c.1463_1467del, with the second being a novel variant. Given the limited number of reported Filippi syndrome patients to date and the ongoing discovery of new clinical aspects of the disease, exploring its potential connection with kidney and skin pigmentation abnormalities could be valuable for future research.

2.
Anatol J Cardiol ; 2024 Jan 07.
Artículo en Inglés | MEDLINE | ID: mdl-38168008

RESUMEN

BACKGROUND: Atrial fibrillation (AF) is the most prevalent cardiac arrhythmia worldwide and is associated with an increased risk of thromboembolism, ischemic stroke, impaired quality of life, and mortality. The latest research that shows the prevalence and incidence of AF patients in Türkiye was the Turkish Adults' Heart Disease and Risk Factors study, which included 3,450 patients and collected data until 2006/07.The Turkish Real Life Atrial Fibrillation in Clinical Practice (TRAFFIC) study is planned to present current prevalence data, reveal the reflection of new treatment and risk approaches in our country, and develop new prediction models in terms of outcomes. METHODS: The TRAFFIC study is a national, prospective, multicenter, observational registry. The study aims to collect data from at least 1900 patients diagnosed with atrial fibrillation, with the participation of 40 centers from Türkiye. The following data will be collected from patients: baseline demographic characteristics, medical history, vital signs, symptoms of AF, ECG and echocardiographic findings, CHADS2-VASC2 and HAS-BLED (1-year risk of major bleeding) risk scores, interventional treatments, antithrombotic and antiarrhythmic medications, or other medications used by the patients. For patients who use warfarin, international normalized ratio levels will be monitored. Follow-up data will be collected at 6, 12, 18, and 24 months. Primary endpoints are defined as systemic embolism or major safety endpoints (major bleeding, clinically relevant nonmajor bleeding, and minor bleeding as defined by the International Society on Thrombosis and Hemostasis). The main secondary endpoints include major adverse cardiovascular events (systemic embolism, myocardial infarction, and cardiovascular death), all-cause mortality, and hospitalizations due to all causes or specific reasons. RESULTS: The results of the 12-month follow-up of the study are planned to be shared by the end of 2023. CONCLUSION: The TRAFFIC study will reveal the prevalence and incidence, demographic characteristics, and risk profiles of AF patients in Türkiye. Additionally, it will provide insights into how current treatments are reflected in this population. Furthermore, risk prediction modeling and risk scoring can be conducted for patients with AF.

3.
Turk J Gastroenterol ; 34(12): 1240-1248, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37823318

RESUMEN

BACKGROUND/AIMS: Pancreatitis is one of the leading causes of digestive system-related hospital admissions, and it has a genetic background in a considerable portion of the patients. In this study, we aimed to investigate the genetic risk factors of idiopathic pancreatitis in Turkish patients and the contribution of copy number variations to the pathogenesis. MATERIALS AND METHODS: Idiopathic pancreatitis is defined as failure to detect risk factors despite comprehensive clinical assessments. Next-generation sequencing and multiple ligand-dependent probe amplification of PRSS1, SPINK1, CTRC, and CFTR were performed. For further genotype-phenotype correlations, patients were also questioned for the age of onset, family history, and pancreatic divisum. RESULTS: A total of 68 idiopathic pancreatitis cases were enrolled. Variants with potential clinical significance of PRSS1 were identified in 13.4%, SPINK1 in 6.3%, CTRC in 4.7%, and CFTR in 26.5% of the patients. No copy number variants were seen in any of these genes. At least 7.4% of the participants had complex genetic etiology involving 2 genes. CONCLUSIONS: At least 42.6% of the participants had a potential genetic risk factor. Five novel genetic variants were identified, and distinctive genetic risk factors of Turkish population were shown. The results showed that genetic etiology was frequent in pancreatitis and it was even more prominent in patients with early-onset disease. Considering that genetic risk factors may be informative for decisionmaking in the treatment options in addition to providing extensive prognostic value and familial genetic consultation; clinicians need to be more eager to offer genetic tests to pancreatitis patients.


Asunto(s)
Pancreatitis Crónica , Inhibidor de Tripsina Pancreática de Kazal , Humanos , Mutación , Inhibidor de Tripsina Pancreática de Kazal/genética , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Variaciones en el Número de Copia de ADN , Tripsina/genética , Predisposición Genética a la Enfermedad
4.
Rev Assoc Med Bras (1992) ; 68(10): 1369-1375, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36417638

RESUMEN

OBJECTIVE: This study aimed to evaluate the association between left ventricular ejection fraction recovery and the total oxidant status, total antioxidant capacity, and high-sensitivity C-reactive protein levels. METHODS: A total of 264 ST-elevation myocardial infarction patients were classified into two groups according to baseline and 6-month follow-up left ventricular systolic function: reduced and recovery systolic function. Predictors of the recovery of left ventricular ejection fraction were determined by multivariate regression analyses. RESULTS: Multivariable analysis indicated that oxidative status index, baseline left ventricular ejection fraction and peak creatine-kinase myocardial bundle level, and high-sensitivity C-reactive protein were independently associated with the decreased of left ventricular ejection fraction at 6-month follow-up. CONCLUSION: Oxidative stress and inflammation parameters were detrimental to the recovery of left ventricular ejection fraction in patients with ST-elevation myocardial infarction.


Asunto(s)
Infarto del Miocardio , Intervención Coronaria Percutánea , Infarto del Miocardio con Elevación del ST , Humanos , Infarto del Miocardio con Elevación del ST/cirugía , Infarto del Miocardio con Elevación del ST/complicaciones , Volumen Sistólico , Antioxidantes , Función Ventricular Izquierda , Proteína C-Reactiva , Infarto del Miocardio/cirugía , Infarto del Miocardio/complicaciones , Estrés Oxidativo
5.
Am J Med Genet A ; 188(1): 326-331, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-34562061

RESUMEN

NudE Neurodevelopment Protein 1 (NDE1) gene encodes a protein required for microtubule organization, mitosis, and neuronal migration. Biallelic pathogenic variants of NDE1 gene are associated with structural central nervous system abnormalities, specifically microlissencephaly and microhydranencephaly. The root of these different phenotypes remains unclear. Here, we report a 20-year-old male patient referred to our clinics due to severe microcephaly, developmental delay, spastic quadriplegia, and dysmorphic features. The cranial computed tomography revealed abnormal brain structure and excess of cerebrospinal fluid, consistent with microhydranencephaly. A homozygous c.684_685del, p.(Pro229TrpfsTer85) change in NDE1 gene was found by clinical exome analysis. The variant has previously been reported in individuals with microlissencephaly, therefore we propose that the same variant within the gene may cause either microlissencephaly or microhydranencephaly phenotypes. There are only a few papers about NDE1-related disorders in the literature and the patient we described is important to clarify the phenotypic spectrum of the disease.


Asunto(s)
Hidranencefalia , Lisencefalia , Microcefalia , Humanos , Hidranencefalia/diagnóstico , Hidranencefalia/genética , Lisencefalia/diagnóstico , Lisencefalia/genética , Masculino , Microcefalia/diagnóstico , Microcefalia/genética , Proteínas Asociadas a Microtúbulos/genética
6.
Angiology ; 73(3): 218-224, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-34247536

RESUMEN

The aim of this study was to investigate the predictive capacity of a systemic immune-inflammation index (SII) in the detection of contrast-induced nephropathy (CIN) following ST-segment elevation myocardial infarction (STEMI). A total of 477 STEMI patients were enrolled in the study. The patients were divided into 2 groups according to CIN development. A cutoff point of 5.91 for logarithm-transformed SII was identified with 73.0% sensitivity and 57.5% specificity to predict CIN following STEMI. According to a pairwise analysis of receiver operating characteristic curve analysis, the predictive power of SII in detecting CIN following STEMI was similar to that of high-sensitivity C-reactive protein and better than the neutrophil/lymphocyte ratio or platelet/lymphocyte ratio. As a result, SII can be used as one of the independent predictors of CIN after STEMI.


Asunto(s)
Enfermedades Renales , Intervención Coronaria Percutánea , Infarto del Miocardio con Elevación del ST , Medios de Contraste/efectos adversos , Humanos , Inflamación/inducido químicamente , Inflamación/diagnóstico , Enfermedades Renales/inducido químicamente , Enfermedades Renales/diagnóstico , Intervención Coronaria Percutánea/efectos adversos , Factores de Riesgo , Infarto del Miocardio con Elevación del ST/diagnóstico por imagen
7.
Rev Port Cardiol (Engl Ed) ; 40(7): 489-497, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-34274095

RESUMEN

BACKGROUND: Contrast-induced nephropathy (CIN) is a life-threatening complication after primary percutaneous coronary intervention (p-PCI). Oxidative stress and inflammation may play an important role in the development of CIN. OBJECTIVE: We aimed to assess the relationship between total oxidant status, total antioxidant capacity, high-sensitivity C-reactive protein (hs-CRP), gamma-glutamyltransferase and uric acid (UA) in the development of CIN in patients presenting with ST-elevation myocardial infarction (STEMI). METHODS: This prospective cohort study consisted of 341 patients with STEMI. Patients were divided into two groups: those with and those without CIN. Predictors of CIN were determined by multivariate regression analyses. RESULTS: Multivariate regression analysis showed that initial glucose level, contrast media volume/glomerular filtration ratio (eGFR) ratio, hs-CRP, UA and oxidative status index were associated with the development of CIN in patients with STEMI. CONCLUSION: The main finding of this study is that increased oxidative stress and inflammation parameters were associated with the development of CIN in patients with STEMI. Other independent predictors of CIN were contrast media volume/eGFR ratio, initial glucose level, UA and hs-CRP.


Asunto(s)
Intervención Coronaria Percutánea , Infarto del Miocardio con Elevación del ST , Antioxidantes , Humanos , Oxidantes , Intervención Coronaria Percutánea/efectos adversos , Estudios Prospectivos , Factores de Riesgo , Infarto del Miocardio con Elevación del ST/cirugía
8.
Clin Exp Hypertens ; 43(8): 707-714, 2021 Nov 17.
Artículo en Inglés | MEDLINE | ID: mdl-34176382

RESUMEN

BACKGROUND: Morning blood pressure surge (MBPS) plays an important role in target organ damage and major adverse cardiac events. The frontal QRS-T [f(QRS-T)] angle is the electrocardiographic marker and index of ventricular arrhythmogenic events. We aimed to investigate the relationship between MBPS and the f(QRS-T) angle, which is an indicator of ventricular repolarization disorder, in patients with newly diagnosed HT. METHODS: Between June 2020 and March 2021, 263 patients with newly diagnosed HT who were admitted to our outpatient clinic were prospectively included in the study. According to ambulatory blood pressure monitoring (ABPM), the patients were categorized into two groups: Group-I: low-value MBPS (<37 mm Hg), and group-II: high-value MBPS (≥37 mm Hg). The f(QRS-T) angle calculated from the 12-lead electrocardiogram and all other data were compared between the groups. RESULTS: A total of 186 newly diagnosed HT patients who met the inclusion criteria were included in the study. The average f(QRS-T) angle in Groups I and 2 was 21° ± 16° and 51° ± 30°, respectively (P < .001). According to multivariate regression analysis, T peak-end and MBPS were found to be independent predictors of the f(QRS-T) angle. CONCLUSIONS: As a result of our study, we found that the f(QRS-T) angle was widened in patients with exaggerated MBPS. The cause of increased cardiovascular outcomes in patients with exaggerated MBPS may be explained by widened in the f(QRS-T) angle that is a ventricular repolarization parameter.


Asunto(s)
Monitoreo Ambulatorio de la Presión Arterial , Hipertensión , Presión Sanguínea , Electrocardiografía , Corazón , Humanos , Hipertensión/diagnóstico
9.
Neurobiol Aging ; 106: 332.e1-332.e11, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34162492

RESUMEN

Just as its clinical heterogeneity, genetic basis of Frontotemporal dementia (FTD) is also diverse and multiple molecular pathways are thought to be involved in disease pathogenesis. In the present study, FTD- related genes were evaluated in a Turkish cohort of 175 index FTD patients with a gene panel including GRN, MAPT, TARDBP, FUS, CHMP2B and VCP genes. Potential genetic associations were prospected in 16 patients (9.1%); five variants (p.(Gly35Glufs) and p.(Cys253Ter) in GRN; p.(Arg95Cys) in VCP; p.(Met405Val) in TARDBP and p.(Pro636Leu) in MAPT) were classified as pathogenic (P) or likely pathogenic (LP), in four familial and one sporadic patients. Three novel variants in MAPT, CHMP2B and FUS were also identified in familial cases. The most common pathogenic variants were observed in the GRN gene with a frequency of 1.14% (2/175) and this rate was 4.57% (8/175), including variants of uncertain significance (VUS). In this study with the largest cohort of Turkish FTD patients, GRN and MAPT variants were identified as the most common genetic associations; and rare causes like VCP, TARDBP, CHMP2B and FUS variants are recommended to be considered in patients with compatible clinical findings.


Asunto(s)
Demencia Frontotemporal/epidemiología , Demencia Frontotemporal/genética , Frecuencia de los Genes/genética , Estudios de Asociación Genética/métodos , Variación Genética/genética , Progranulinas/genética , Proteínas tau/genética , Anciano , Estudios de Cohortes , Proteínas de Unión al ADN/genética , Complejos de Clasificación Endosomal Requeridos para el Transporte/genética , Femenino , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Humanos , Masculino , Persona de Mediana Edad , Proteína FUS de Unión a ARN/genética , Turquía/epidemiología , Proteína que Contiene Valosina/genética
10.
Clin Exp Hypertens ; 43(7): 642-646, 2021 Oct 03.
Artículo en Inglés | MEDLINE | ID: mdl-34018865

RESUMEN

Background: Tp-e interval, Tp-e/QT ratio and Tp-e/QTc ratio are electrocardiographic markers and indices of ventricular arrhythmogenic events. We aimed to investigate ventricular repolarization in normal weight, overweight, obese and morbidly obese individuals by using ECG parameters including the above markers.Methods: A total of 310 obese patients with various cardiac complaints, who were admitted to our outpatient clinic between May 2020 and January 2021, were prospectively included in the study. Using the World Health Organization (WHO) body mass index (BMI) classification, patients were divided into four groups: normal weight (18.5-24.9 kg/m2, n = 48), overweight (25-29.9 kg/m2, n = 98), obese (30-39.9 kg/m2, n = 119), and morbidly obese (>40 kg/m2, n = 45).Results: The morbidly obese and normal groups were younger in age than the other two groups. The Tp-e interval values for Groups I-IV were 72.1 ± 6.9, 73.1 ± 6.2, 75.7 ± 7.3 and 81.1 ± 6.9, respectively, and significantly different (P < .001). We found that age, BMI, systolic blood pressure (BP) and diastolic BP were independent predictors of a prolonged Tp-e interval.Conclusions: The principal finding of our study was the gradual increase in Tp-e interval, Tp-e/QT ratio and Tp-e/QTc ratio starting from the overweight stage and these parameters gradually increase in obese and morbidly obese patients. Additionally, systolic and diastolic blood pressure predicted Tp-e interval, Tp-e/QT ratio and Tp-e/QTc ratio.


Asunto(s)
Hipertensión , Presión Sanguínea , Índice de Masa Corporal , Electrocardiografía , Humanos , Obesidad Mórbida , Organización Mundial de la Salud
11.
Rev Assoc Med Bras (1992) ; 66(6): 800-805, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32696878

RESUMEN

In patients with atrial fibrillation, standard anticoagulation with a vitamin K antagonist plus dual antiplatelet therapy with a P2Y12 inhibitor and aspirin is the standard of care after percutaneous coronary intervention (PCI). While this therapy reduces the risk of thrombosis and stroke, it increases the risk of bleeding. It is unclear whether the antiplatelet effect of aspirin and clopidogrel may worsen atrial fibrillation (AF). OBJECTIVE Thus we aimed to analyze platelet aspirin resistance (AR) and clopidogrel resistance (CR) in acute coronary (ACS) patients based on sinus rhythm (SR) and AF. METHODS In this prospective trial, we included 543 patients (mean age: 62± 12 years; range: 26 - 89 years) who were on aspirin and clopidogrel therapy after the diagnosis of acute coronary syndrome. AR and CR were analyzed by a Multiplate® MP-0120 device by using the method of whole blood aggregometry. RESULTS AF patients had significantly higher age, mean platelet volume, and High-Sensitivity C-Reactive Protein (p< 0.01 for each parameter). Similarly, Arachidonic-acid induced (ASPI) aggregation was higher in AF patients compared to SR patients (666±218 vs. 187±179, p<0.001). Among the ACS patients, significantly more female patients had AF (p<0.001). The incidence of hypertension in the AF group was higher compared to the SR group (p<0.001). However, adenosine diphosphate levels were not at a significant level in the two groups. CONCLUSION Our findings indicate that the platelet inhibitory effect of Aspirin was worse for patients with AF, suggesting that the effectiveness of aspirin may be less in the prophylaxis of thromboembolism and more a bleeding risk.


Asunto(s)
Síndrome Coronario Agudo , Aspirina/uso terapéutico , Fibrilación Atrial , Resistencia a Medicamentos/fisiología , Adulto , Anciano , Anciano de 80 o más Años , Anticoagulantes , Quimioterapia Combinada , Femenino , Humanos , Incidencia , Persona de Mediana Edad , Intervención Coronaria Percutánea , Inhibidores de Agregación Plaquetaria , Estudios Prospectivos
12.
Rev. Assoc. Med. Bras. (1992) ; 66(6): 800-805, June 2020. tab
Artículo en Inglés | Sec. Est. Saúde SP, LILACS | ID: biblio-1136291

RESUMEN

SUMMARY In patients with atrial fibrillation, standard anticoagulation with a vitamin K antagonist plus dual antiplatelet therapy with a P2Y12 inhibitor and aspirin is the standard of care after percutaneous coronary intervention (PCI). While this therapy reduces the risk of thrombosis and stroke, it increases the risk of bleeding. It is unclear whether the antiplatelet effect of aspirin and clopidogrel may worsen atrial fibrillation (AF). OBJECTIVE Thus we aimed to analyze platelet aspirin resistance (AR) and clopidogrel resistance (CR) in acute coronary (ACS) patients based on sinus rhythm (SR) and AF. METHODS In this prospective trial, we included 543 patients (mean age: 62± 12 years; range: 26 - 89 years) who were on aspirin and clopidogrel therapy after the diagnosis of acute coronary syndrome. AR and CR were analyzed by a Multiplate® MP-0120 device by using the method of whole blood aggregometry. RESULTS AF patients had significantly higher age, mean platelet volume, and High-Sensitivity C-Reactive Protein (p< 0.01 for each parameter). Similarly, Arachidonic-acid induced (ASPI) aggregation was higher in AF patients compared to SR patients (666±218 vs. 187±179, p<0.001). Among the ACS patients, significantly more female patients had AF (p<0.001). The incidence of hypertension in the AF group was higher compared to the SR group (p<0.001). However, adenosine diphosphate levels were not at a significant level in the two groups. CONCLUSION Our findings indicate that the platelet inhibitory effect of Aspirin was worse for patients with AF, suggesting that the effectiveness of aspirin may be less in the prophylaxis of thromboembolism and more a bleeding risk.


RESUMO Em pacientes com fibrilação atrial, a anticoagulação padrão com antagonista da vitamina K mais terapia antiplaquetária dupla (DAPT) com inibidor de P2Y12 e aspirina é o padrão de tratamento após intervenção coronária percutânea (ICP). Enquanto essa terapia reduz o risco de trombose e derrame, aumenta o risco de sangramento. Não está claro se o efeito antiplaquetário da aspirina e do clopidogrel pode piorar a fibrilação atrial (FA). OBJETIVO Analisar a resistência à aspirina plaquetária (AR) e ao clopidogrel (CR) em pacientes coronarianos agudos (SCA) com base no ritmo sinusal (SR) e na FA. MÉTODOS Neste estudo prospectivo, foram incluídos 543 pacientes (idade média: 62±12 anos; intervalo: 26-89 anos) em uso de aspirina e clopidogrel após o diagnóstico de síndrome coronariana aguda. AR e CR foram analisados por um dispositivo Multiplate® MP-0120, utilizando o método de agregometria de sangue total. RESULTADOS Os pacientes com FA apresentaram valores significativamente maiores para idade, volume médio de plaquetas e proteína C reativa de alta sensibilidade (p<0,01 para cada parâmetro). Da mesma forma, a agregação induzida por ácido araquidônico (Aspi) foi maior nos pacientes com FA em comparação com os pacientes com SR (666±218 vs. 187±179, p<0,001). Entre os pacientes com SCA, significativamente mais pacientes do sexo feminino apresentaram FA (p<0,001). A incidência de hipertensão no grupo FA foi maior em comparação com o grupo SR (p<0,001). No entanto, os níveis de difosfato de adenosina não foram expressivamente significativos nos dois grupos. CONCLUSÃO Nossos achados indicam que o efeito inibitório plaquetário da aspirina foi pior em pacientes com FA, sugerindo que a eficácia da aspirina pode ser menor na profilaxia do tromboembolismo, com maior risco de sangramento.


Asunto(s)
Humanos , Femenino , Adulto , Anciano , Anciano de 80 o más Años , Fibrilación Atrial , Resistencia a Medicamentos/fisiología , Aspirina/uso terapéutico , Síndrome Coronario Agudo , Inhibidores de Agregación Plaquetaria , Incidencia , Estudios Prospectivos , Quimioterapia Combinada , Intervención Coronaria Percutánea , Persona de Mediana Edad , Anticoagulantes
13.
Am J Med Genet A ; 182(4): 740-745, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-31957987

RESUMEN

S-adenosylhomocysteine hydrolase deficiency is an autosomal recessive neurometabolic disorder affecting the muscles, liver, and nervous system. The disease occurs by pathogenic variants of AHCY gene encoding S-adenosylhomocysteine hydrolase (AHCY) enzyme. This article reports a patient with presumed AHCY deficiency who was diagnosed by whole exome sequencing due to compound heterozygosity of novel p.T57I (c.170C>T) and p.V217M (c.649G>A) variants of AHCY gene. The patient had diffuse edema, coagulopathy, central nervous system abnormalities, and hypotonia. She died in 3 months due to cardiovascular collapse. Clinical findings of the present case were compatible with previously reported AHCY deficiency patients and the novel variants we found are considered to be the cause of the symptoms. This article also compiles the previous reports and expands clinical spectrum of AHCY deficiency by adding new features.


Asunto(s)
Adenosilhomocisteinasa/genética , Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico , Glicina N-Metiltransferasa/deficiencia , Mutación , Errores Innatos del Metabolismo de los Aminoácidos/genética , Femenino , Glicina N-Metiltransferasa/genética , Humanos , Recién Nacido , Pronóstico
14.
Braz J Cardiovasc Surg ; 34(5): 535-541, 2019 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-31719007

RESUMEN

INTRODUCTION: Metabolic syndrome (MetS) is defined as an association between diabetes, hypertension, obesity and dyslipidemia and an increased risk of cardiovascular disease. Mitral annular calcification (MAC) is associated with several cardiovascular disorders, including coronary artery disease, atrial fibrillation (AF), heart failure, ischemic stroke and increased mortality. The CHA2DS2-VASc score is used to estimate thromboembolic risk in AF. However, the association among MAC, MetS and thromboembolic risk is unknown and was evaluated in the current study. METHODS: The study group consisted of 94 patients with MAC and 86 patients with MetS. Patients were divided into two groups: those with and those without MAC. RESULTS: Patients with MAC had a higher MetS rate (P<0.001). In patients with MAC, the CHA2DS2-VASc scores and the rate of cerebrovascular accident and AF were significantly higher compared to those without MAC (P<0.001, for both parameters). The results of the multivariate regression analysis showed that history of smoking, presence of MetS and high CHA2DS2-VASc scores were associated with the development of MAC. ROC curve analyses showed that CHA2DS2-VASc scores were significant predictors for MAC (C-statistic: 0.78; 95% CI: 0.706-0.855, P<0.001). Correlation analysis indicated that MAC was positively correlated with the presence of MetS and CHA2DS2-VASc score (P=0.001, r=0.264; P<0.001, r=0.490). CONCLUSION: We have shown that CHA2DS2-VASc score and presence of MetS rates were significantly higher in patients with MAC compared without MAC. Presence of MAC was correlated with CHA2DS2-VASc score, presence of MetS, AF and left atrial diameter and negatively correlated with left ventricular ejection fraction.


Asunto(s)
Calcinosis/complicaciones , Enfermedades de las Válvulas Cardíacas/complicaciones , Síndrome Metabólico/complicaciones , Válvula Mitral , Tromboembolia/etiología , Anciano , Anciano de 80 o más Años , Fibrilación Atrial/fisiopatología , Calcinosis/fisiopatología , Ecocardiografía , Femenino , Enfermedades de las Válvulas Cardíacas/fisiopatología , Humanos , Modelos Logísticos , Masculino , Síndrome Metabólico/fisiopatología , Persona de Mediana Edad , Válvula Mitral/fisiopatología , Estudios Prospectivos , Medición de Riesgo/métodos , Factores de Riesgo , Sensibilidad y Especificidad , Estadísticas no Paramétricas , Volumen Sistólico/fisiología , Tromboembolia/fisiopatología
15.
Rev. bras. cir. cardiovasc ; 34(5): 535-541, Sept.-Oct. 2019. tab, graf
Artículo en Inglés | LILACS | ID: biblio-1042052

RESUMEN

Abstract Introduction: Metabolic syndrome (MetS) is defined as an association between diabetes, hypertension, obesity and dyslipidemia and an increased risk of cardiovascular disease. Mitral annular calcification (MAC) is associated with several cardiovascular disorders, including coronary artery disease, atrial fibrillation (AF), heart failure, ischemic stroke and increased mortality. The CHA2DS2-VASc score is used to estimate thromboembolic risk in AF. However, the association among MAC, MetS and thromboembolic risk is unknown and was evaluated in the current study. Methods: The study group consisted of 94 patients with MAC and 86 patients with MetS. Patients were divided into two groups: those with and those without MAC. Results: Patients with MAC had a higher MetS rate (P<0.001). In patients with MAC, the CHA2DS2-VASc scores and the rate of cerebrovascular accident and AF were significantly higher compared to those without MAC (P<0.001, for both parameters). The results of the multivariate regression analysis showed that history of smoking, presence of MetS and high CHA2DS2-VASc scores were associated with the development of MAC. ROC curve analyses showed that CHA2DS2-VASc scores were significant predictors for MAC (C-statistic: 0.78; 95% CI: 0.706-0.855, P<0.001). Correlation analysis indicated that MAC was positively correlated with the presence of MetS and CHA2DS2-VASc score (P=0.001, r=0.264; P<0.001, r=0.490). Conclusion: We have shown that CHA2DS2-VASc score and presence of MetS rates were significantly higher in patients with MAC compared without MAC. Presence of MAC was correlated with CHA2DS2-VASc score, presence of MetS, AF and left atrial diameter and negatively correlated with left ventricular ejection fraction.


Asunto(s)
Humanos , Masculino , Femenino , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Tromboembolia/etiología , Calcinosis/complicaciones , Enfermedades de las Válvulas Cardíacas/complicaciones , Válvula Mitral/fisiopatología , Fibrilación Atrial/fisiopatología , Volumen Sistólico/fisiología , Tromboembolia/fisiopatología , Calcinosis/fisiopatología , Ecocardiografía , Modelos Logísticos , Estudios Prospectivos , Factores de Riesgo , Sensibilidad y Especificidad , Estadísticas no Paramétricas , Medición de Riesgo/métodos , Síndrome Metabólico/complicaciones , Síndrome Metabólico/fisiopatología , Enfermedades de las Válvulas Cardíacas/fisiopatología
16.
Sao Paulo Med J ; 137(3): 248-254, 2019 Jul 22.
Artículo en Inglés | MEDLINE | ID: mdl-31340253

RESUMEN

BACKGROUND: Atrial fibrillation (AF) is the most common form of supraventricular arrhythmia following ST-elevation myocardial infarction (STEMI). The CHA2DS2-VASc and CHADS2 scores are used to estimate thromboembolic risk in cases of AF. Their usefulness in predicting the development of AF in patients presenting STEMI is unknown. OBJECTIVE: To evaluate the predictive value of the CHADS2 and CHA2DS2-VASc scores in patients with AF following STEMI. DESIGN AND SETTING: This prospective cohort study on 696 patients with STEMI was conducted at a tertiary-level cardiology clinic in a public university hospital. METHODS: Models including clinical and laboratory parameters were constructed to test the predictive value of CHADS2 and CHA2DS2-VASc scores. Patients were divided into two groups: with and without AF. Predictors of AF were determined using multivariate regression analysis. RESULTS: In the patients with AF, CHADS2 and CHA2DS2-VASc scores were significantly higher than in those without AF (for both P < 0.001). Factors associated with AF in multivariate analyses included CHA2DS2-VASc score (odds ratio, OR: 1.48; 95% confidence interval, CI: 1.25-1.75; P < 0.001), peak creatine kinase-myocardial binding (OR: 1.002; 95% CI: 1.00-1.003; P = 0.0024), duration of the coronary intensive care unit stay (OR: 1.69; 95% CI: 1.24-12.30; P = 0.001) and no use of renin-angiotensin system blockers (OR: 2.16; 95% CI: 1.14-4.10; P = 0.0017). Receiver operating characteristic curve analyses showed that CHA2DS2-VASc scores were significant predictors for new-onset AF (C-statistic: 0.698; 95% CI: 0.631-0.765; P < 0.001). CONCLUSION: CHADS2 and CHA2DS2-VASc scores predicted new AF in patients presenting STEMI.


Asunto(s)
Fibrilación Atrial/sangre , Fibrilación Atrial/etiología , Infarto del Miocardio con Elevación del ST/sangre , Infarto del Miocardio con Elevación del ST/complicaciones , Adulto , Anciano , Anciano de 80 o más Años , Fibrilación Atrial/diagnóstico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Estudios Prospectivos , Curva ROC , Factores de Riesgo , Adulto Joven
17.
São Paulo med. j ; 137(3): 248-254, May-June 2019. tab, graf
Artículo en Inglés | LILACS | ID: biblio-1020955

RESUMEN

ABSTRACT BACKGROUND: Atrial fibrillation (AF) is the most common form of supraventricular arrhythmia following ST-elevation myocardial infarction (STEMI). The CHA2DS2-VASc and CHADS2 scores are used to estimate thromboembolic risk in cases of AF. Their usefulness in predicting the development of AF in patients presenting STEMI is unknown. OBJECTIVE: To evaluate the predictive value of the CHADS2 and CHA2DS2-VASc scores in patients with AF following STEMI. DESIGN AND SETTING: This prospective cohort study on 696 patients with STEMI was conducted at a tertiary-level cardiology clinic in a public university hospital. METHODS: Models including clinical and laboratory parameters were constructed to test the predictive value of CHADS2 and CHA2DS2-VASc scores. Patients were divided into two groups: with and without AF. Predictors of AF were determined using multivariate regression analysis. RESULTS: In the patients with AF, CHADS2 and CHA2DS2-VASc scores were significantly higher than in those without AF (for both P < 0.001). Factors associated with AF in multivariate analyses included CHA2DS2-VASc score (odds ratio, OR: 1.48; 95% confidence interval, CI: 1.25-1.75; P < 0.001), peak creatine kinase-myocardial binding (OR: 1.002; 95% CI: 1.00-1.003; P = 0.0024), duration of the coronary intensive care unit stay (OR: 1.69; 95% CI: 1.24-12.30; P = 0.001) and no use of renin-angiotensin system blockers (OR: 2.16; 95% CI: 1.14-4.10; P = 0.0017). Receiver operating characteristic curve analyses showed that CHA2DS2-VASc scores were significant predictors for new-onset AF (C-statistic: 0.698; 95% CI: 0.631-0.765; P < 0.001). CONCLUSION: CHADS2 and CHA2DS2-VASc scores predicted new AF in patients presenting STEMI.


Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Adulto Joven , Fibrilación Atrial/etiología , Fibrilación Atrial/sangre , Infarto del Miocardio con Elevación del ST/complicaciones , Infarto del Miocardio con Elevación del ST/sangre , Fibrilación Atrial/diagnóstico , Valor Predictivo de las Pruebas , Estudios Prospectivos , Factores de Riesgo , Curva ROC
18.
J Saudi Heart Assoc ; 30(2): 153-156, 2018 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-29910588

RESUMEN

Myocardial bridge is defined as the narrowing of any coronary artery segment in systole but a normal diameter in diastole. It is most frequently seen on left anterior descending (LAD) artery. Left circumflex artery (LCx) is very rare. A 62 year-old male patient presented with severe, squeezing chest pain. The electrocardiogram showed T wave inversion in V1-V4 and ST depression in DII, DIII, aVF. Coronary angiography showed complicated lesion on after S2 branches of LAD and myocardial bridge causing 100% systolic narrowing of fourth obtus marginal branch of LCx. Bare metal stent was placed to LAD lesions with no residual occlusion. The patient was discharged with beta-blocker therapy. He had no recurrent chest pain during six months of follow-up.

19.
Anatol J Cardiol ; 18(5): 340-346, 2018 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-29083326

RESUMEN

OBJECTIVE: Aortic stiffness is an important cardiovascular risk marker, which can be determined using different noninvasive techniques. Aortic propagation velocity (APV) has recently been established as a novel echocardiographic parameter of aortic stiffness. This study aimed to investigate the association between APV and the classical echocardiography-derived aortic stiffness parameters, aortic distensibility (AD) and aortic strain (AS), in a group of otherwise healthy individuals. METHODS: In total, 97 consecutive healthy subjects were recruited in this observational study. APV was measured using color M-mode echocardiography from the suprasternal window in the descending aorta. AS and AD were calculated using clinical blood pressure and the M-mode echocardiography-derived aortic diameters. Correlation analyses were performed between cardiovascular risk factors related to increased aortic stiffness (age, obesity, and blood pressure) and measured stiffness parameters (APV, AS, and AD). Correlation analyses were also performed among the measured stiffness parameters. RESULTS: Good correlation of age, blood pressure, and BMI with AS and AD was observed. One-on-one correlation of age, blood pressure, and BMI with APV was not observed. No correlation was observed between APV and AS (r=-0.05, p=0.6) or between APV and AD (r=-0.17, p=0.8). CONCLUSION: Although APV has been proposed as a novel and practical echocardiographic parameter of aortic stiffness, especially in patients with coronary artery disease, correlations between classical stiffness parameters (AS and AD) and APV were absent in healthy individuals at low-intermediate risk. The clinical and research applicability of APV should be further evaluated.


Asunto(s)
Aorta/fisiopatología , Rigidez Vascular , Adulto , Aorta/diagnóstico por imagen , Velocidad del Flujo Sanguíneo , Presión Sanguínea , Índice de Masa Corporal , Estudios Transversales , Ecocardiografía Doppler en Color , Femenino , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Valores de Referencia , Adulto Joven
20.
Scand J Clin Lab Invest ; 77(2): 77-82, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-27905214

RESUMEN

Atrial fibrillation (AF) is the most common supraventricular arrhythmia following ST elevation myocardial infarction (STEMI). Oxidative stress and inflammation may cause structural and electrical remodeling in the atria making these critical processes in the pathology of AF. In this study, we aimed to evaluate the association between total oxidative status (TOS), total antioxidative capacity (TAC) and high-sensitivity C-reactive protein (hs-CRP) in the development of AF in patients presenting with STEMI. This prospective cohort study consisted of 346 patients with STEMI. Serum TAC and TOS were assessed by Erel's method. Patients were divided into two groups: those with and those without AF. Predictors of AF were determined by multivariate regression analysis. In the present study, 9.5% of patients developed AF. In the patients with AF, plasma TOS and oxidative stress index (OSI) values were significantly higher and plasma TAC levels were significantly lower compared to those without AF (p = .003, p = .002, p < .0001, respectively). Multivariate regression analysis results showed that, female gender (Odds ratio [OR] = 3.07; 95% Confidence Interval [CI] = 1.26-7.47; p = .01), left atrial diameter (OR =1.28; 95% CI =1.12-1.47; p < .0001), hs-CRP (OR =1.02; 95% CI =1.00-1.03; p = .001) and OSI (OR =1.10; 95% CI =1.04-1.18; p = .001) were associated with the development of AF in patients presenting with STEMI. The main finding of this study is that oxidative stress and inflammation parameters were associated with the development of AF in patients presenting with STEMI. Other independent predictors of AF were female gender, left atrial diameter and hs-CRP.


Asunto(s)
Fibrilación Atrial/sangre , Proteína C-Reactiva/metabolismo , Atrios Cardíacos/patología , Miocardio/patología , Infarto del Miocardio con Elevación del ST/sangre , Adulto , Anciano , Anciano de 80 o más Años , Fibrilación Atrial/diagnóstico , Fibrilación Atrial/etiología , Fibrilación Atrial/patología , Biomarcadores/sangre , Femenino , Atrios Cardíacos/metabolismo , Humanos , Inflamación , Masculino , Persona de Mediana Edad , Miocardio/metabolismo , Oportunidad Relativa , Estrés Oxidativo , Estudios Prospectivos , Análisis de Regresión , Factores de Riesgo , Infarto del Miocardio con Elevación del ST/complicaciones , Infarto del Miocardio con Elevación del ST/diagnóstico , Infarto del Miocardio con Elevación del ST/patología , Factores Sexuales
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