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1.
Cardiol Young ; 32(11): 1860-1861, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35301968

RESUMO

A 27-year-old man applied for routine control due to aortic coarctation stent. During routine control, a late in-stent thrombus was detected. The patient was asymptomatic. Thrombus resolution was achieved with anticoagulant therapy. Anticoagulant therapy is one of the options in the treatment of aortic stent graft-associated asymptomatic thrombus. Surgical intervention might be required in case of thromboembolism, haemodynamic deterioration, and intra-aortic gradient with high blood pressure in the upper extremity.


Assuntos
Coartação Aórtica , Trombose , Masculino , Humanos , Adulto , Coartação Aórtica/complicações , Coartação Aórtica/cirurgia , Stents/efeitos adversos , Trombose/diagnóstico por imagem , Trombose/etiologia , Aorta , Anticoagulantes , Resultado do Tratamento
2.
Toxicol Appl Pharmacol ; 423: 115575, 2021 07 15.
Artigo em Inglês | MEDLINE | ID: mdl-34000265

RESUMO

AIMS: IQOS is a novel tobacco product claimed to be safer than conventional cigarette smoking due to the heat-not-burn system. This study aimed to evaluate the acute effects of IQOS smoking on myocardial systolic and diastolic functions and also compare the acute impacts of IQOS with cigarette smoking. METHODS: In this prospective study, twenty-seven healthy participants who were using IQOS were included. Transthoracic echocardiography was performed three times for each participant; before smoking any tobacco product (group1), after IQOS smoking (group 2), after cigarette smoking (group3). In addition to conventional echocardiographic measurements, left ventricle (LV) and right ventricle (RV) strain analyses were performed by speckle tracking echocardiography. RESULTS: In comparison with non-smoking status, LV global longitudinal strain (GLS) decreased after IQOS and cigarette smoking (-18.9 ± 2.4% in baseline vs. -17.9 ± 2.4% in IQOS vs. -17.9 ± 2.8% in cigarette smoking; p = 0.003, p = 0.001; respectively). LV global circumferential strain (GCS) reduced after IQOS and cigarette smoking (-19.8 ± 4.4% in baseline vs. -18.3 ± 3.9% in IQOS vs. -17.5 ± 3.9% in cigarette smoking; p = 0.005, p < 0.001; respectively). RV GLS was significantly lower in groups smoking IQOS and cigarette (-23.2 ± 4.6% in baseline vs. -21.4 ± 4.1% in IQOS vs. -19.4 ± 4.1% in cigarette smoking; p < 0.001, p = 0.001; respectively). CONCLUSION: IQOS (heat-not-burn) tobacco smoking impairs myocardial systolic and diastolic functions in the acute phase like conventional cigarette smoking. The use of IQOS is rising among young adults in recent years, so further studies should be designed to evaluate the chronic effects of IQOS on myocardial function.


Assuntos
Pressão Sanguínea/efeitos dos fármacos , Fumar Cigarros/efeitos adversos , Ecocardiografia/métodos , Frequência Cardíaca/efeitos dos fármacos , Produtos do Tabaco/efeitos adversos , Adulto , Pressão Sanguínea/fisiologia , Feminino , Coração/diagnóstico por imagem , Coração/efeitos dos fármacos , Testes de Função Cardíaca/métodos , Frequência Cardíaca/fisiologia , Temperatura Alta/efeitos adversos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos
3.
Echocardiography ; 37(12): 1989-1999, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-33070385

RESUMO

BACKGROUND: Regular physical activity is associated with cardiovascular health; however, intensive exercise can have harmful effects on the heart. Two-dimensional (2D) speckle tracking echocardiography (STE) is a well-established diagnostic tool to evaluate subclinical myocardial dysfunction and has been widely used in athletes in recent years. This study is designed to evaluate whether low-intensity exercise has beneficial effects on myocardial performance. We aimed to evaluate systolic and diastolic functions of myocardium derived from STE in sports practitioners in a low-intensity exercise training program. METHOD: Eighty-four sports practitioners and eighty-two sedentary healthy controls were prospectively included in our study. In addition to standard 2D echocardiographic measurements, left ventricular (LV) global longitudinal strain (GLS), right ventricular (RV) GLS, RV-free wall strain (FWS), left atrium (LA) strain, and strain rate were analyzed. RESULTS: Mean LV GLS was significantly higher in sports practitioners compared with sedentary population (-19.21 ± 2.61% vs -18.37 ± 2.75%, P = .044). RV GLS was significantly higher in sports practitioners than sedentary population (-21.82 ± 4.86% vs -20.04 ± 4.62%, P = .016). Longitudinal strain and strain rate of LA conduit phase were significantly higher in sports practitioners than sedentary participants (-23.60 ± 6.83% vs -20.20 ± 6.64%, P = .001; -2.45 ± 0.81 L/s vs -2.10 ± 0.89 L/s, P = .010; respectively). Also, LA conduit phase strain/contraction phase strain and conduit phase strain rate/contraction phase strain rate ratios were higher in sports practitioners (1.88 ± 0.93 vs 1.48 ± 0.63, P = .001; 1.42 ± 0.65 vs 1.16 ± 0.53, P = .005; respectively). CONCLUSION: The findings in the current study suggest that regular low-intensity exercise may have a beneficial effect on both systolic and diastolic functions of the myocardium.


Assuntos
Ecocardiografia , Ventrículos do Coração , Diástole , Exercício Físico , Ventrículos do Coração/diagnóstico por imagem , Humanos , Sístole , Função Ventricular Esquerda
4.
Pacing Clin Electrophysiol ; 42(9): 1213-1218, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31390077

RESUMO

BACKGROUND: There is no consensus in the literature regarding what is the responsible mechanism of left ventricular dyssynchrony; septal dyskinesia or late movement of left ventricle (LV) lateral wall. We aim to evaluate the abnormal systolic motion in each myocardial segment and the improvement of LV systolic function with pulsed tissue Doppler imaging (TDI) in patients undergoing cardiac resynchronization therapy (CRT) with left bundle branch block (LBBB). METHODS: A total of 26 patients undergoing CRT implantation with LBBB, wide QRS duration (≥120 ms), and low ejection fraction (EF) (<35%) were included. Pulsed TDI was taken from apical 4-chamber view and parasternal short axis view (PSAX). All echocardiographic parameters were measured when CRT is on and off. RESULTS: Systolic ejection time (ET) of anteroseptal and posterolateral wall of LV in PSAX was statistically significantly longer in CRT on group (321.6 ± 62.7 vs 237.5 ± 59.3 ms, P < .001; 323.9 ± 58.0 vs 289.4 ± 43.7 ms, P = .015, respectively). In apical 4-chamber view, septal annulus systolic ET is significantly longer in CRT on group than CRT off group (315.8 ± 57.2 vs 287.3 ± 42.2, P = .014). Also, there was a strong correlation between systolic ET of the septum in PSAX with aortic velocity time integral (VTI), QRS duration and EF (r = .587, P = .002; r = .479, P = .013; r = .440, P = .025; respectively). CONCLUSION: Circumferential contraction of septal myocardial fibers is improved with CRT and it is strongly correlated with increase of aortic VTI and shortening of QRS duration. These findings predict the deterioration of septal contraction as the main mechanism in patients with LBBB pattern and, CRT may improves myocardial contraction by correcting septal systolic motion.


Assuntos
Bloqueio de Ramo/fisiopatologia , Bloqueio de Ramo/terapia , Terapia de Ressincronização Cardíaca , Septo Interventricular/fisiopatologia , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sístole , Função Ventricular Esquerda
5.
Echocardiography ; 36(11): 2026-2032, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31682035

RESUMO

BACKGROUND: Cigarette smoking causes myocardial damage with several mechanisms such as sympathetic nervous system activation, oxidative stress, and endothelial dysfunction. Chronic smokers have an increased risk of morbidity and mortality associated with cardiac events. We aimed to compare the myocardial deformation parameters between chronic smokers and nonsmoker healthy population. METHOD: Forty-two healthy participants (mean age 33.48 ± 10.00 years) without smoking history, 40 participants (mean age 33.98 ± 9.27 years) who had been smoking were prospectively included. In addition to conventional echocardiographic measurements, global longitudinal strain (GLS) of left ventricle (LV), GLS of right ventricle (RV), left atrial strain, and strain rate were analyzed. RESULTS: Smokers had lower peak early diastolic velocity (E) and E/a (early diastolic velocity/late diastolic velocity) ratio in mitral inflow (70.0 ± 13.9 cm/sec vs 77.1 ± 13.3 cm/sec, P = .023; 1.4 ± 0.4 vs 1.7 ± 0.4, P = .011; respectively). Peak early diastolic velocity of mitral valve septal annulus (Em) and Em/Am ratio (peak early diastolic velocity of mitral valve/late diastolic velocity of mitral valve) (11.0 ± 2.1 cm/sec vs 12.1 ± 2.4 cm/sec, P = .023; 1.2 ± 0.3 vs 1.4 ± 0.4, P = .039; respectively) were lower in smokers. LV GLS and RV GLS were significantly lower in smokers (-17.6% ± 3.01 vs -19.2% ± 2.5; P = .013, -18.9% ± 4.4 vs -21.0% ± 4.5; P = .039; respectively). CONCLUSION: Impaired LV and RV deformation were found in chronic smokers in our study. Although there was no statistically significant difference with left ventricular ejection fraction, LV GLS which is the early indicator of LV systolic dysfunction was lower in chronic smokers. The assessment of early harmful effects of smoking on left and right ventricle might be evaluated with speckle tracking echocardiography.


Assuntos
Ecocardiografia/métodos , Ventrículos do Coração/diagnóstico por imagem , Contração Miocárdica/fisiologia , Fumar/efeitos adversos , Disfunção Ventricular Esquerda/diagnóstico , Função Ventricular Esquerda/fisiologia , Adulto , Velocidade do Fluxo Sanguíneo/fisiologia , Doença Crônica , Diástole , Progressão da Doença , Feminino , Seguimentos , Ventrículos do Coração/fisiopatologia , Humanos , Masculino , Prognóstico , Estudos Prospectivos , Sístole , Disfunção Ventricular Esquerda/etiologia , Disfunção Ventricular Esquerda/fisiopatologia
6.
Turk Kardiyol Dern Ars ; 43(8): 699-704, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26717331

RESUMO

OBJECTIVE: Percutaneous closure of perimembranous ventricular septal defects (pmVSD) has become an accepted alternative to surgical closure in selected cases. However, closure of pmVSDs associated with septal aneurysm is more challenging. We report our experience of device closure of pmVSDs associated with septal aneurysm. METHODS: Between 2008 and 2012, percutaneous closure of pmVSD associated with septal aneurysm was attempted in 11 adult patients in our institution. The patients were followed up at 1, 3, 6, and 12 months after the procedure. RESULTS: Mean age of the patients (64% male, 36% female) was 36.2±1.3 years. Diameter of the left and right ventricular openings of the aneurysm measured by ventriculography was 13.5±5.6 mm and 5.9±2.2 mm, respectively. The defect was occluded with Amplatzer pmVSD Occluder in 4 patients, Amplatzer Muscular Ventricular Septal Defect Occluder in 4 patients, Amplatzer Duct Occluder I in 1 patient, and Amplatzer Duct Occluder II in 2 patients (AGA Medical Corp., Plymouth, MN, USA). The procedure was succesfull in all patients. Mean follow-up time was 22±1.9 months. There was no device- or procedure-related complications at the acute setting or mid-term follow-up. CONCLUSION: Percutaneous closure of pmVSDs associated with aneurysm is more challenging than that of simple defects. The selection of the device type and size should be made according to the configuration and size of the aneurysm and defect.


Assuntos
Procedimentos Endovasculares/efeitos adversos , Procedimentos Endovasculares/métodos , Aneurisma Cardíaco/cirurgia , Comunicação Interventricular/cirurgia , Adolescente , Adulto , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Adulto Jovem
7.
Turk Kardiyol Dern Ars ; 43(4): 350-5, 2015 Jun.
Artigo em Turco | MEDLINE | ID: mdl-26142788

RESUMO

OBJECTIVE: In recent years, there has been an increase in clinical situations requiring extraction of leads of implanted cardiac devices. This study aimed to evaluate the Evolution Mechanical Dilator Sheath system, presently in use in our clinic for lead extraction procedures. METHODS: Lead extraction procedures carried out on 20 patients (14 men, 6 women; mean age 61±19; range 23 to 85 years) between 2008 and 2013 using the Evolution system were retrospectively evaluated. Procedural success, and major and minor complications were determined by previously published guidelines. RESULTS: Mean implantation duration of the leads was 97±65 months (8-204). Fifteen (75%) patients had undergone pacemaker implantation and 5 (25%) had been implanted with a defibrillator. A total of 35 leads were removed from the patients. Seventeen (49%) were ventricular and 12 (34%) were atrial. Five (14%) were defibrillator coils and 1 a coronary sinus lead. Indications for lead extraction were device infection in 18 (90%) patients and lead dysfunction in 2 (10%). Complete procedural success was 95%. Failure occurred in 1 patient. The major complication rate was 5% and minor complications were seen in 25% of patients. No case of mortality was present. CONCLUSION: In this single centre study, it was shown that extraction of pacemaker and defibrillator leads of longer implant duration may be successfully carried out using the Evolution system. However, due to potentially serious complications it is advised that extraction be done by an experienced operator in centres with cardiovascular surgery facilities.


Assuntos
Desfibriladores Implantáveis/estatística & dados numéricos , Remoção de Dispositivo , Marca-Passo Artificial/estatística & dados numéricos , Adulto , Idoso , Idoso de 80 Anos ou mais , Remoção de Dispositivo/efeitos adversos , Remoção de Dispositivo/métodos , Remoção de Dispositivo/mortalidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/epidemiologia , Adulto Jovem
8.
Turk Kardiyol Dern Ars ; 43(4): 356-60, 2015 Jun.
Artigo em Turco | MEDLINE | ID: mdl-26142789

RESUMO

OBJECTIVE: Atrioventricular nodal reentrant tachycardia (AVNRT) attacks is one of the common arrhythmias adversely affecting quality of life. The Umea 22 (U22) is a questionnaire developed for the assessment of symptoms associated with supraventricular tachycardia (SVT), and it is found to be effective in evaluation of quality of life after radiofrequency ablation. Using this questionnaire, the study aimed to assess quality of life among Turkish patients with ANRT before and after the successful RFA. METHODS: The study was conducted between January 2011 and September 2013, and included 57 patients who had undergone RFA due to AVNRT. The U22 questionnaire was administered pre-procedure and at 6 months post-procedure. The participants were asked to report on their general well-being, arrhythmia effects on their wellbeing, and intensity of discomfort associated with episodes. They were asked to provide a score from 1 to 10 in order to determine to severity of discomfort, and the quantity of symptoms was then assessed according to the visual analogue scale (VAS). RESULTS: Patients' general wellbeing (7.5±2.3 vs. 8.7±1.8, p<0.001), the effects of arrhythmia episodes on general well-being (8.1±1.7 vs. 1.0±2.1, p<0.001), frequency of symptoms (2.8±0.8 vs. 0.4±0.9, p<0.001) and duration of symptoms were reduced significantly after RFA. The rate of drug use among patients also decreased after RFA (70% vs. 23%, p=0.017). CONCLUSION: Treatment success was high in patients undergoing RFA due to AVNRT according to the U22 quality of life questionnaire. General and arrhythmia-associated quality of life had improved significantly by the 6th month post-procedure.


Assuntos
Ablação por Cateter/estatística & dados numéricos , Qualidade de Vida/psicologia , Taquicardia por Reentrada no Nó Atrioventricular/epidemiologia , Taquicardia por Reentrada no Nó Atrioventricular/psicologia , Taquicardia por Reentrada no Nó Atrioventricular/cirurgia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários
9.
Turk Kardiyol Dern Ars ; 42(6): 556-9, 2014 Sep.
Artigo em Turco | MEDLINE | ID: mdl-25362947

RESUMO

Transcatheter aortic valve implantation is becoming increasingly popular as an alternative treatment technique for symptomatic patients with severe aortic stenosis, who are at high risk for surgery. However, with this revolutionary treatment modality, some fatal complications have also emerged. One of these fatal complications is the occlusion of the left main coronary artery at the time of procedure. In this case report, we report a case of a transcatheter aortic valve implantation complicated by acute left main trunk subtotal occlusion and hemodynamic collapse, which was successfully recovered by balloon angioplasty and stent implantation.


Assuntos
Estenose da Valva Aórtica/cirurgia , Oclusão Coronária/diagnóstico , Implante de Prótese de Valva Cardíaca/efeitos adversos , Idoso de 80 Anos ou mais , Angioplastia Coronária com Balão , Estenose da Valva Aórtica/complicações , Angiografia Coronária , Oclusão Coronária/diagnóstico por imagem , Oclusão Coronária/etiologia , Oclusão Coronária/terapia , Diagnóstico Diferencial , Feminino , Humanos , Stents
11.
Gynecol Endocrinol ; 29(9): 867-72, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23875965

RESUMO

We aimed to compare the effects of different types of hormone treatment (HT) on endothelial function by means of brachial artery ultrasonographic examination in postmenopausal women. Sixty-two healthy postmenopausal women were included in this study. Subjects were assigned to one of the five groups receiving 6 months of treatment [estrogen (conjugated estrogen), estrogen (conjugated estrogen) plus progesterone (medroxyprogesterone acetate; MPA), raloxifene, tibolone or control]. Endothelial function was assessed by measurement of flow-mediated dilatation (FMD) and nitrate-dependent dilatation in the brachial artery. At the end of 6 months, FMD values were found to be significantly increased in women with HT use than the control group (p = 0.001). In subgroups, FMD increased significantly in the estrogen [12 ± 7 versus 25 ± 8, p = 0.001] and raloxifene groups [7 ± 5 versus 11 ± 3, p < 0.01] compared to tibolone and estrogen plus progesterone groups. In conclusion, endothelial function is impaired in postmenopausal women. Both estrogen and raloxifene regimens may improve endothelial functions in healthy postmenopausal women. The direct protective effects of these HT on the healthy endothelium may be more remarkable than the favorable effects on lipid profile.


Assuntos
Artéria Braquial/efeitos dos fármacos , Endotélio Vascular/efeitos dos fármacos , Terapia de Reposição de Estrogênios/métodos , Estrogênios Conjugados (USP)/farmacologia , Acetato de Medroxiprogesterona/farmacologia , Pós-Menopausa , Cloridrato de Raloxifeno/farmacologia , Adulto , Artéria Braquial/diagnóstico por imagem , Artéria Braquial/fisiologia , Combinação de Medicamentos , Endotélio Vascular/diagnóstico por imagem , Endotélio Vascular/fisiologia , Terapia de Reposição de Estrogênios/efeitos adversos , Feminino , Saúde , Humanos , Pessoa de Meia-Idade , Norpregnenos/farmacologia , Pós-Menopausa/efeitos dos fármacos , Pós-Menopausa/fisiologia , Ultrassonografia , Vasodilatação/efeitos dos fármacos
12.
Turk Kardiyol Dern Ars ; 41(7): 625-8, 2013 Oct.
Artigo em Turco | MEDLINE | ID: mdl-24164994

RESUMO

Left ventricular (LV) thrombi usually occur in the presence of impaired LV function, such as in dilated cardiomyopathy, aneurysm or following myocardial infarction. Thrombus formation in a normally functioning LV is extremely rare. We report a patient with LV thrombus formation despite a normal systolic function. The patient, who was admitted to the emergency service with transient loss of consciousness and diagnosed with cerebral embolism, was found to have a pedunculated and hypermobile mass in the LV apex by echocardiography. The LV mass was excised by urgent surgery due to its high embolic risk. The histopathological examination revealed that the LV mass was a thrombus. This case highlights that although very rare, LV thrombus formation may occur in patients with normal ejection fraction.


Assuntos
Cardiopatias/sangue , Coração/fisiopatologia , Trombose/sangue , Feminino , Cardiopatias/patologia , Cardiopatias/fisiopatologia , Ventrículos do Coração/fisiopatologia , Humanos , Pessoa de Meia-Idade , Volume Sistólico/fisiologia , Trombose/patologia , Trombose/fisiopatologia
13.
Cardiovasc J Afr ; 34(1): 30-34, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-35980461

RESUMO

OBJECTIVE: Anxiety-depressive disorders are more common in patients with coronary artery disease (CAD) and are strongly associated with higher morbidity and mortality rates. The Hospital Anxiety and Depression Scale (HADS) is a wellvalidated diagnostic tool for screening of anxiety-depression disorders. The SYNTAX score (SS) is the angiographic scoring system and is commonly used to evaluate the severity and complexity of CAD. The aim of this study was to evaluate the association between the HADS and SS. METHODS: The HADS questionnaire was filled in by subjects before the coronary angiography procedure. Biochemical, clinical and echocardiographic parameters, and SS were evaluated in all patients. Patients were assessed using the HADS. The patients were divided into two groups according to the SS [≥ 23: high SYNTAX score group (HSSG), < 23 low]. RESULTS: The HADS scale was significantly higher in HSSG (24.8 ± 10.7 vs 11.3 ± 6.4 p < 0.001). There was no significant difference between the groups regarding laboratory parameters. On multivariate analysis, diabetes mellitus, hyperlipidaemia and the HADS were independent predictors of high SYNTAX score. CONCLUSIONS: In our study, we found that diabetes mellitus, hyperlipidaemia and the HADS were independent predictors of a higher SS.


Assuntos
Doença da Artéria Coronariana , Transtorno Depressivo , Diabetes Mellitus , Humanos , Depressão/diagnóstico , Depressão/epidemiologia , Doença da Artéria Coronariana/diagnóstico , Angiografia Coronária , Ansiedade , Transtorno Depressivo/complicações , Índice de Gravidade de Doença
14.
Acta Cardiol ; 78(1): 17-23, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34565295

RESUMO

BACKGROUND: In acute coronary syndrome (ACS) patients there are mostly studies evaluating prognostic value of admission heart rate. We tried to understand the prognostic value of discharge heart rate in a spectrum of ACS patients. METHODS: A total of 473 consecutive ACS patients were included in the study. Forty-three (9.1%) of them were unstable angina pectoris, 268 (56.7%) were non-ST elevation myocardial infarction and 162 (34.2%) of them were ST elevation myocardial infarction patients. Discharge heart rates of the patients were recorded and the patients were followed-up for 1 year. The primary end-point was all-cause mortality. RESULTS: The mean age of the patients was 64 ± 12. The patients were divided into three subgroups according to discharge heart rates (<78, 78-89, ≥90 beats per minute). Patients with a higher discharge heart rate had higher serum troponin, glucose levels and higher admission heart rates, had lower ejection fraction values and had acute heart failure complication more frequently than the patients with a lower discharge heart rate. A total of 72(16%) patients died during 1 year follow-up. In multivariate logistic regression analysis, an increased discharge heart rate was independently associated with 1-month mortality after ACS, but it was not independently associated with 6-month or 1-year mortality after ACS. Every 1 bpm increase in discharge heart rate resulted in a significant increased risk of 8.2% in 1-month all-cause mortality. CONCLUSION: Increased heart rate at discharge is an independent predictor of 1-month mortality in ACS patients. This relationship disappears after 1-month through 1-year follow-up.


Assuntos
Síndrome Coronariana Aguda , Infarto do Miocárdio sem Supradesnível do Segmento ST , Humanos , Alta do Paciente , Frequência Cardíaca/fisiologia , Hospitalização , Prognóstico , Taquicardia
15.
Genes (Basel) ; 14(10)2023 10 20.
Artigo em Inglês | MEDLINE | ID: mdl-37895316

RESUMO

Whole-exome DNA sequencing is a rich source of clinically useful information for specialists, patients, and their families, as well as elucidating the genetic basis of monogenic and complex diseases in clinical diagnosis. However, interpreting and reporting variants encompassing exome and genome sequence analysis outcome data are one of the greatest challenges of the genomic era. In this study, we aimed to investigate the frequency and allele frequency spectrum of single nucleotide variants accepted as recessive disease carrier status in Turkish Cypriot exomes. The same sequencing platform and data processing line were used for the analysis of data from 100 Turkish Cypriot whole-exome sequence analysis. Identified variants were classified according to ACMG guidelines, and pathogenic variants were confirmed in other databases such as ClinVar, HGMD, Varsome, etc. Pathogenic variants were detected in 68 genes out of 100 whole-exome sequence data. The carriage rate was the highest in the CYP21A2 gene, causing 21-hydroxylase deficiency (14.70%), 11.76% in the HBB gene causing ß-thalassemia, 10.29% in the BTD gene causing biotinidase deficiency, 8.82% in the CFTR gene causing cystic fibrosis, 8.82% in the RBM8A gene causing thrombocytopenia-absent radius syndrome, which is an ultra-rare disease, and 5.88% in the GAA gene causing glycogen storage disease II. The carriage of pathogenic variants in other genes causing the disease (GJB2, PAH, GALC, CYP11B2, COL4A3, HBA1, etc.) was determined as less than 5.00%. Also, the identified variations in the mentioned gene within the examined population were reported. The most prevalent mutation in North Cyprus was a missense variant (c.1360 C>T, p.Pro454Ser) detected in the CYP21A2 gene (rs6445), and the most frequently seen variant in the HBB gene was c.93-21G>A (rs35004220). We investigated reported pathogenic variants by estimating the lower and upper limits of carrier and population frequencies for autosomal recessive diseases, for which exome sequencing may reveal additional medically relevant information. Determining the lower and upper limits of these frequencies will shed light on preventive medicine practices and governmental actions.


Assuntos
Hiperplasia Suprarrenal Congênita , Fibrose Cística , Humanos , Mutação , Frequência do Gene , Genômica , Esteroide 21-Hidroxilase
16.
Rev Assoc Med Bras (1992) ; 69(7): e20221424, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37466588

RESUMO

OBJECTIVE: Atherosclerosis is a disease of the arteries that is not practically observed in veins. There are a lot of proposed mechanisms underlying this phenomenon. We aimed to compare the lipoprotein and total cholesterol levels in aortic and venous blood samples. METHODS: A total of 125 patients ≥18 years of age were included in the study. After overnight fasting, we drew blood from the proximal ascending aorta and brachial vein. Serum lipid profiles were compared between these samples. RESULTS: Out of 125 patients, 45 (36%) were females, and 80 (64%) were males. The mean age of the patients was 62 years (24-85 years). Notably, 39 (31%) patients were using statin treatment. Coronary angiography showed that 103 (82%) patients had coronary artery disease. Mean arterial total cholesterol (low-density lipoprotein), high-density lipoprotein, and triglyceride levels were significantly lower than mean venous total cholesterol, low-density lipoprotein, high-density lipoprotein, and triglyceride levels (187.3±45.3 mg/dL vs. 204.5±52.6 mg/dL, p<0.001; 116.7±41.5 mg/dL vs. 128±45 mg/dL, p<0.001; 40.8±12.9 mg/dL vs. 45.3±13.3 mg/dL, p<0.001; and 142.8±81.5 vs. 161.5±100.3 mg/dL, p<0.001, respectively). CONCLUSION: Aortic lipoprotein and total cholesterol levels are significantly lower than venous lipoprotein and total cholesterol levels in patients presenting to the hospital for coronary angiography.


Assuntos
Doença da Artéria Coronariana , Masculino , Feminino , Humanos , Pessoa de Meia-Idade , Doença da Artéria Coronariana/diagnóstico por imagem , Lipoproteínas , Angiografia Coronária , Colesterol , Triglicerídeos , HDL-Colesterol
18.
Minerva Cardiol Angiol ; 69(3): 244-250, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-32472986

RESUMO

BACKGROUND: The aim of this study was to investigate whether the frontal QRS-T angle was different between the athletes and normal healthy people. METHODS: The study included 122 healthy athletes (the mean age was 29.7±7.7 years, of them, were 73.8% male) and a control group consisted of 60 healthy people (the mean age was 29.8±7.8 years, 26% of them were male). Then, the athletes were divided into two groups as who used protein supplements (PS) and those who did not. In the 12-lead ECG, heart rate (HR), P, QRS, QT, corrected QT (QTc) duration, QT and corrected QT dispersion (QTD, QTcD), the sum of V1 or V2S amplitude and V5 or V6R amplitude (V1/2S+V5/6R), frontal QRS-T angle were calculated. RESULTS: There was no significant difference between the athletes and control groups regarding age, gender, smoking, body mass index, systolic blood pressure (SBP) and diastolic blood pressure (DBP), echocardiographic features, P, PR duration, P, QRS, T axis, QTD and QTcD (P>0.05).HR and QTc were significantly lower (P<0.05) and QRS, QT duration was longer in athletes group (P<0.001). The V1/2S+V5/6R and frontal QRS-T angle values were higher in the athlete's group (P<0.001). There was no significant difference between PS users and non PS users regarding demographic characteristics, duration of sports years, SBP and DBP (P>0.05). However, male gender was dominant in the PS users group (P=0.018). The P axis, PR and QRS duration were longer in the PS users group (P<0.05).It was found that the T axis was negatively correlated (r=-0.431,P<0.001) but the QRS axis was positively correlated (r=0.395,P<0.001) with frontal QRS-T angle. CONCLUSIONS: The frontal QRS-T angle, was found to be wider in athletes compared to normal healthy participants. However, there was no significant difference between who used PS and those who did not.


Assuntos
Eletrocardiografia , Esportes , Adulto , Atletas , Ecocardiografia , Feminino , Frequência Cardíaca , Humanos , Masculino
19.
Pacing Clin Electrophysiol ; 33(2): 153-8, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19889180

RESUMO

BACKGROUND: The determination of early, accurate, predictive criteria for a positive result would permit a reduction in the duration of the head-up tilt testing (HUTT). Previous studies propounded that existence of early sympathetic overreactivity (rapid and sustained increase in heart rate) during HUTT predicts positive result. However, the exact value of this variable is unknown. We analyzed the early heart rate (HR) responses to HUTT and evaluated their ability to predict HUTT result. METHODS: Consecutive patients referred to the syncope unit of our center for recurrent unexplained syncope were studied. RESULTS: We studied 189 consecutive patients and 67 (35%) patients had a negative HUTT; 122 (65%) patients had a positive HUTT. The early HR increase was defined as the maximum HR during the first 10 minutes of tilting minus the resting HR before tilting. The receiver-operator curves (ROCs) show the overall performance of the HR changes for predicting the HUTT result. For all variables, area under the ROC curve (AUC) was nearly equivalent to 0.50 and early HR increase was not a predictor of the negative result of HUTT (AUC = 0.546). Also there was no any significant correlation between the magnitude of early HR increase and patient age (r =-0.03, P = 0.76). CONCLUSIONS: The results suggest that the early increase in HR during the first 10 minutes of the HUTT may not be a useful parameter for predicting the test result. Many factors, such as late exaggeration in sympathetic activity during HUTT and age-dependent reduction in baroreflex sensitivity, may attenuate the predictive value of early HR increase.


Assuntos
Síncope Vasovagal/diagnóstico , Teste da Mesa Inclinada/métodos , Adulto , Fatores Etários , Barorreflexo , Eletrocardiografia/métodos , Feminino , Frequência Cardíaca , Humanos , Masculino , Pessoa de Meia-Idade , Síncope Vasovagal/fisiopatologia
20.
Turk Kardiyol Dern Ars ; 38(6): 393-9, 2010 Sep.
Artigo em Turco | MEDLINE | ID: mdl-21200117

RESUMO

OBJECTIVES: We prospectively classified patients presenting with acute coronary syndrome (ACS) into two age groups, <70 years and ≥70 years, and investigated the frequency of cardiac catheterization, the predictors of cardiac catheterization in the older patient population, and determined early mortality in patients treated with or without cardiac catheterization. STUDY DESIGN: The study included 1,101 patients admitted with ACS. The patients were prospectively classified in two age groups, <70 years (n=762; mean age 55±9 years) and ≥70 years (n=339; mean age 76±5 years). Data on demographic characteristics, clinical and laboratory findings, and the presence or absence of cardiac catheterization were recorded. The predictors of cardiac catheterization were assessed in the overall patient group and in those ≥70 years of age, and 30-day mortality rates were determined. RESULTS: Compared with the older group, in younger patients cardiac catheterization was more frequent (74.4% vs. 50.7%, p=0.0001) and earlier (p=0.023), and decision for percutaneous coronary intervention was more common (52.7% vs. 40.7%, p=0.010), whereas coronary bypass grafting was performed more frequently in the older group (43% vs. 31.2%, p=0.010). Overall 30-day mortality rates showed significant differences in both groups between patients treated with or without cardiac catheterization (<70 years: 3.7% vs. 18.3%, p<0.0001; ≥70 years: 5.6% vs. 21%, p<0.0001). Logistic regression analysis showed the following as significant predictors of cardiac catheterization in patients ≥70 years of age: heart failure (OR: 3.853, p=0.017), systolic blood pressure <100 mmHg (OR: 3.602, p=0.008), creatinine clearance <60 ml/min (OR: 2.761, p=0.001), and ST-segment elevation ≥1 mm on the electrocardiogram (OR: 2.817, p=0.0001). CONCLUSION: Invasive diagnostic and therapeutic strategies are implemented less frequently in elderly patients. These procedures, which offer obvious mortality benefit, should be considered in elderly patients after meticulous risk evaluation.


Assuntos
Síndrome Coronariana Aguda , Cateterismo Cardíaco/estatística & dados numéricos , Síndrome Coronariana Aguda/diagnóstico , Síndrome Coronariana Aguda/mortalidade , Síndrome Coronariana Aguda/terapia , Fatores Etários , Idoso , Cateterismo Cardíaco/efeitos adversos , Angiografia Coronária , Eletrocardiografia , Feminino , Mortalidade Hospitalar , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Medição de Risco , Resultado do Tratamento
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