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1.
Eur Heart J Acute Cardiovasc Care ; : 2048872620907539, 2020 Feb 18.
Artigo em Inglês | MEDLINE | ID: mdl-32067483

RESUMO

BACKGROUND: Undetectable high-sensitivity cardiac troponin (hs-cTn) in a single determination upon admission may rule out acute coronary syndrome. We investigated undetectable hs-cTnT (

2.
J Am Heart Assoc ; 9(4): e014254, 2020 Feb 18.
Artigo em Inglês | MEDLINE | ID: mdl-32067585

RESUMO

Background Intravenous ferric carboxymaltose (FCM) improves symptoms, functional capacity, and quality of life in heart failure and iron deficiency. The mechanisms underlying these effects are not fully understood. The aim of this study was to examine changes in myocardial iron content after FCM administration in patients with heart failure and iron deficiency using cardiac magnetic resonance. Methods and Results Fifty-three stable heart failure and iron deficiency patients were randomly assigned 1:1 to receive intravenous FCM or placebo in a multicenter, double-blind study. T2* and T1 mapping cardiac magnetic resonance sequences, noninvasive surrogates of intramyocardial iron, were evaluated before and 7 and 30 days after randomization using linear mixed regression analysis. Results are presented as least-square means with 95% CI. The primary end point was the change in T2* and T1 mapping at 7 and 30 days. Median age was 73 (65-78) years, with N-terminal pro-B-type natriuretic peptide, ferritin, and transferrin saturation medians of 1690 pg/mL (1010-2828), 63 ng/mL (22-114), and 15.7% (11.0-19.2), respectively. Baseline T2* and T1 mapping values did not significantly differ across treatment arms. On day 7, both T2* and T1 mapping (ms) were significantly lower in the FCM arm (36.6 [34.6-38.7] versus 40 [38-42.1], P=0.025; 1061 [1051-1072] versus 1085 [1074-1095], P=0.001, respectively). A similar reduction was found at 30 days for T2* (36.3 [34.1-38.5] versus 41.1 [38.9-43.4], P=0.003), but not for T1 mapping (1075 [1065-1085] versus 1079 [1069-1089], P=0.577). Conclusions In patients with heart failure and iron deficiency, FCM administration was associated with changes in the T2* and T1 mapping cardiac magnetic resonance sequences, indicative of myocardial iron repletion. Clinical Trial Registration URL: http://www.clinicaltrials.gov. Unique identifier: NCT03398681.

3.
Coron Artery Dis ; 2020 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-32040026

RESUMO

BACKGROUND: In established ischemic heart disease, the relationship between lipoprotein(a) and new cardiovascular events showed contradictory results. Our aim was to assess the relationship between lipoprotein(a) and very long-term recurrent myocardial infarction (MI) after an index episode of ST-segment elevation acute myocardial infarction (STEMI). METHODS: We included 435 consecutive STEMI patients discharged from October 2000 to June 2003 in a single teaching center. The relationship between lipoprotein(a) at discharge and recurrent MI was evaluated through negative binomial regression and Cox regression analysis. RESULTS: The mean age was 65 years (55-74 years), 25.5% were women, 34.7% were diabetic, and 66% had a MI of anterior location. Fibrinolysis, rescue, or primary angioplasty was performed in 215 (49.4%), 19 (4.4%), and 18 (4.1%) patients, respectively. The median lipoprotein(a) was 30.4 mg/dL (12-59.4 mg/dL). After a median follow-up of 9.6 years (4.1-15 years), 180 (41.4%) deaths and 187 MI in 133 (30.6%) patients were recorded. After a multivariate adjustment, the risk gradient of lipoprotein(a) showed a neutral effect along most of the continuum and only extreme higher values identified those at higher risk of recurrent MI (P = 0.020). Those with lipoprotein(a) values >95th percentile (≥135 mg/dL) showed a higher risk of recurrent MI (incidence rate ratio, 2.34; 95% confidence interval, 1.37-4.02; P = 0.002). Lipoprotein(a) was not related to the risk of mortality (P = 0.245). CONCLUSIONS: After an episode of STEMI, only extreme high values of lipoprotein(a) were associated with an increased risk of long-term recurrent MI.

4.
Genet Med ; 2020 Feb 18.
Artigo em Inglês | MEDLINE | ID: mdl-32066871

RESUMO

PURPOSE: Spinal muscular atrophy (SMA), caused by loss of the SMN1 gene, is a leading cause of early childhood death. Due to the near identical sequences of SMN1 and SMN2, analysis of this region is challenging. Population-wide SMA screening to quantify the SMN1 copy number (CN) is recommended by the American College of Medical Genetics and Genomics. METHODS: We developed a method that accurately identifies the CN of SMN1 and SMN2 using genome sequencing (GS) data by analyzing read depth and eight informative reference genome differences between SMN1/2. RESULTS: We characterized SMN1/2 in 12,747 genomes, identified 1568 samples with SMN1 gains or losses and 6615 samples with SMN2 gains or losses, and calculated a pan-ethnic carrier frequency of 2%, consistent with previous studies. Additionally, 99.8% of our SMN1 and 99.7% of SMN2 CN calls agreed with orthogonal methods, with a recall of 100% for SMA and 97.8% for carriers, and a precision of 100% for both SMA and carriers. CONCLUSION: This SMN copy-number caller can be used to identify both carrier and affected status of SMA, enabling SMA testing to be offered as a comprehensive test in neonatal care and an accurate carrier screening tool in GS sequencing projects.

5.
Int J Cardiol ; 302: 30-33, 2020 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-31924393

RESUMO

BACKGROUND: The potential sex-differential effect of frailty in patients with acute coronary syndromes (ACS) has not been well-evaluated. We sought to examine the sex-differential association between frailty status on long-term mortality in elderly patients with an ACS. METHODS AND RESULTS: This is a prospective observational single-center study that included 488 elderly patients (>65 years) hospitalized for ACS who survived the index hospitalization. Multivariate Cox regression was used to determine the association among the exposures (interaction of sex with Fried score and sex with Fried ≥ 3) and all-cause mortality. The mean age of the sample was 78 ±â€¯7 years; 41% were female and the median Fried score was higher in women [3 (2-3) vs. 2 (1-2) points, p < 0.001]. At a median follow-up of 3.12 years (IQR:1.38-5.13), 182 deaths (37.3%) were registered. The association of Fried ≥ 3 with mortality varied across sex (p-value for interaction = 0.022). In males, Fried ≥ 3 was independently associated with all-cause death (HR = 1.89; CI 95%:1.25-2.85, p = 0.003). However, it showed a neutral effect on women (HR = 0.92; CI 95%:0.57-1.49, p = 0.726). CONCLUSIONS: In this work, we found that the frailty status assessed by Fried score was independently associated with mortality in elderly males but not in females with ACS.

8.
ESC Heart Fail ; 2020 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-31903686

RESUMO

AIMS: Proprotein convertase subtilisin/kexin type 9 (PCSK9) has emerged as a therapeutic target for reducing plasma low-density lipoprotein cholesterol. Beyond lipid control, recent findings suggest a deleterious effect of this protein in the pathogenesis of postmyocardial infarction left ventricle remodelling and heart failure-related complications. The aim of this study was to assess the relationship between circulating PCSK9 and 6 month cardiac magnetic resonance imaging-derived left ventricular ejection fraction (LVEF) after a first ST-segment elevation myocardial infarction (STEMI). METHODS AND RESULTS: We prospectively evaluated 40 patients with a first STEMI, LVEF < 50% and treated with primary percutaneous coronary intervention in which PCSK9 was measured 24 h postreperfusion. All patients underwent cardiac magnetic resonance imaging 1 week and 6 months after STEMI. Baseline characteristics were compared across median values of PCSK9. The association between PCSK9 levels and LVEF at 6 months was evaluated by analysis of covariance. The mean age of the sample was 60 ± 12 years and 33 (82.5%) were male patients. The infarct location was anterior in 27 patients (67.5%), and 9 patients (22.5%) were Killip class ≥ II. The mean 1 week and 6 month LVEF were 41 ± 7% and 48 ± 10%, respectively. The mean PCSK9 was 1.93 ± 0.38 U/mL. Testing the association between serum PCSK9 and 6 month LVEF with analysis of covariance revealed an inverse relationship (r = -0.35, P = 0.028). After multivariate adjustment, circulating PCSK9 remained significant and inversely associated with 6 month LVEF (P = 0.002). CONCLUSIONS: In patients with a first STEMI with reduced ejection fraction at index admission and treated with primary percutaneous coronary intervention, circulating PCSK9 was associated with lower LVEF at 6 months.

9.
Am J Cardiol ; 2020 Jan 07.
Artigo em Inglês | MEDLINE | ID: mdl-31959430

RESUMO

Low lymphocyte count, as a marker of inflammation and immunosuppression, may be useful for identifying frail patients. In this work, we aimed to evaluate the association between low-relative lymphocyte count (Lymph%) and frailty status in patients >65 years old with acute coronary syndromes (ACS), and whether Lymph% is associated with morbimortality beyond standard prognosticators and frailty. In this prospective observational study, we included 488 hospital survivors of an episode of an ACS >65 years old. Total and differential white blood cells and frailty status were assessed at discharge. Frailty was evaluated using the Fried score at discharge and defined as Fried≥3. The independent association between Lymph% and Fried≥3 was evaluated by multivariate logistic regression analysis. The associations between Lymph% with long-term all-cause mortality and recurrent admission were evaluated with Cox regression and shared frailty regression, respectively. The mean age of the sample was 78 ± 7 years and 41% were females. The median (interquartile range) of the Lymph% was 21% (15 to 27) and 41% showed Fried≥3. In multivariate analysis, Lymph% was inversely related to the odds of frailty with an exponential increase risk from values below 15% (p = 0.001). Likewise, Lymph% was inverse and independently associated with a higher risk of long-term mortality (p = 0.011), recurrent all-cause (p = 0.020), and cardiovascular readmissions (p = 0.024). In conclusion, in patients >65 years with a recent ACS, low Lymph% evaluated at discharge is associated with a higher risk of frailty. Low Lymph% was also associated with a higher risk of long-term mortality and recurrent admissions beyond standard prognosticators and Fried score.

10.
J Cardiovasc Med (Hagerstown) ; 21(1): 27-33, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31652170

RESUMO

AIMS: Anemia is associated with poorer outcomes in patients with acute coronary syndromes (ACS), but the magnitude of this association in elderly patients remains poorly understood. No study has assessed the prognostic impact of anemia according to frailty status in this setting. METHODS: The LONGEVO-SCA registry included unselected ACS patients aged at least 80 years. A geriatric assessment was performed during hospitalization, including frailty assessment using the FRAIL scale. Anemia was defined by the WHO criteria. We evaluated the impact of anemia on 6-month mortality according to the presence of frailty. RESULTS: A total of 517 patients were assessed. Mean age was 84.3 years, and a total of 236 patients (45.6%) had anemia. Patients with anemia had a higher prevalence of comorbidities and higher prevalence of frailty (30.6 vs. 22.3%, P = 0.007). A total of 60 patients (12.1%) died at 6 months [40 with anemia (17.5%) and 20 without anemia (7.5%), P = 0.001]. Anemia was independently associated with mortality at 6 months in the whole cohort (hazard ratio 2.28, 95% CI 1.13-457, P = 0.021). The association of anemia and mortality was different according to frailty status, being significant in patients without frailty (hazard ratio 3.94, 95% CI 1.84-8.45, P = 0.001), but not in frail patients (hazard ratio 1.17, 95% CI 0.53-2.57, P = 0.705), (P value for interaction = 0.035). CONCLUSION: A high proportion of elderly patients with ACS have anemia, leading to a worse prognosis in the whole cohort. The association between anemia and mortality was especially significant in robust patients, whereas the poorer prognosis in frail patients was not modified by the presence of anemia.

11.
NPJ Genom Med ; 4: 31, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31814998

RESUMO

The developmental and epileptic encephalopathies (DEE) are a group of rare, severe neurodevelopmental disorders, where even the most thorough sequencing studies leave 60-65% of patients without a molecular diagnosis. Here, we explore the incompleteness of transcript models used for exome and genome analysis as one potential explanation for a lack of current diagnoses. Therefore, we have updated the GENCODE gene annotation for 191 epilepsy-associated genes, using human brain-derived transcriptomic libraries and other data to build 3,550 putative transcript models. Our annotations increase the transcriptional 'footprint' of these genes by over 674 kb. Using SCN1A as a case study, due to its close phenotype/genotype correlation with Dravet syndrome, we screened 122 people with Dravet syndrome or a similar phenotype with a panel of exon sequences representing eight established genes and identified two de novo SCN1A variants that now - through improved gene annotation - are ascribed to residing among our exons. These two (from 122 screened people, 1.6%) molecular diagnoses carry significant clinical implications. Furthermore, we identified a previously classified SCN1A intronic Dravet syndrome-associated variant that now lies within a deeply conserved exon. Our findings illustrate the potential gains of thorough gene annotation in improving diagnostic yields for genetic disorders.

12.
ESC Heart Fail ; 2019 Dec 12.
Artigo em Inglês | MEDLINE | ID: mdl-31833193

RESUMO

Refractory congestive heart failure is associated with an ominous prognosis in which the treatments strategies remain scarce and not well validated. In the last years, continuous ambulatory peritoneal dialysis (CAPD) has emerged as a therapeutic alternative in this subset of patients. So far, it has been associated with a significant improvement in functional capacity and quality of life, together with a striking reduction in the risk of readmissions. We present the case of an elderly patient with severe left ventricular dysfunction and severe mitral and tricuspid regurgitation who presents recurrent admissions for anasarca. After its inclusion in a CAPD programme, the patient experienced a marked clinical and biochemical improvement despite the persistence of cardiac abnormalities. CAPD onset translates into greater sodium removal. We want to emphasize the usefulness of this therapy in the management of volume excess in patients with refractory heart failure and renal failure promoting a greater sodium removal compared with traditional diuretic strategies.

13.
J Am Med Dir Assoc ; 2019 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-31780414

RESUMO

OBJECTIVES: No previous studies have assessed the role of the FRAIL scale in predicting long-term outcomes in older patients with acute coronary syndromes (ACS). DESIGN, SETTING AND PARTICIPANTS: The multicenter observational LONGEVO-SCA registry included unselected patients ≥80 years of age with ACS from 44 centers. A comprehensive geriatric assessment was performed during hospitalization. MEASURES: Frailty was measured by the FRAIL scale. For the purpose of this study, main outcome measured was mortality or readmission at 24 months. RESULTS: A total of 498 patients were included. Mean age was 84.3 years. A total of 198 patients (33.1%) were prefrail and 135 (27.1%) frail. Patients who were prefrail and frail had a higher degree of comorbidities, and higher prevalence of disability, cognitive impairment, and nutritional risk. A total of 165 out of 498 patients (33.1%) died, and 331 patients (66.7%) died or were readmitted at 24 months. Both prefrailty and frailty were associated with a higher mortality compared with robust patients (P < .001). The incidence of mortality or readmission was also higher in patients who were prefrail or frail (P < .001). After adjusting for potential confounders, the association between frailty and mortality or readmission remained significant (hazard ratio 1.28 for prefrailty and hazard ratio 1.96 for frailty, P < .001). The FRAIL scale showed an optimal ability for predicting mortality or readmission (area under the receiver operating characteristics curve 0.86, 95% confidence interval 0.83‒0.89). The area under the receiver operating characteristics curve from the  Global Registry of Acute Coronary Events risk score was 0.89. No significant differences were observed between both AUC values (P = .163). CONCLUSIONS AND IMPLICATIONS: The FRAIL scale independently predicted long-term outcomes in older patients with ACS. The predictive ability of this scale was comparable to the strongly recommended Global Registry of Acute Coronary Events risk score. Frailty assessment is mandatory for improving risk prediction in these complex patients.

14.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31629690

RESUMO

INTRODUCTION AND OBJECTIVES: Type 2 diabetes mellitus (DM2) is a common comorbidity in patients with heart failure (HF) with preserved ejection fraction (HFpEF). Previous studies have shown that diabetic women are at higher risk of developing HF than men. However, the long-term prognosis of diabetic HFpEF patients by sex has not been extensively explored. In this study, we aimed to evaluate the differential impact of DM2 on all-cause mortality in men vs women with HFpEF after admission for acute HF. METHODS: We prospectively included 1019 consecutive HFpEF patients discharged after admission for acute HF in a single tertiary referral hospital. Multivariate Cox regression analysis was used to evaluate the interaction between sex and DM2 regarding the risk of long-term all-cause mortality. Risk estimates were calculated as hazard ratios (HR). RESULTS: The mean age of the cohort was 75.6±9.5 years and 609 (59.8%) were women. The proportion of DM2 was similar between sexes (45.1% vs 49.1, P=.211). At a median (interquartile range) follow-up of 3.6 (1-4-6.8) years, 646 (63.4%) patients died. After adjustment for risk factors, comorbidities, biomarkers, echo parameters and treatment at discharge, multivariate analysis showed a differential prognostic effect of DM2 (P value for interaction=.007). DM2 was associated with a higher risk of all-cause mortality in women (HR, 1.77; 95%CI, 1.41-2.21; P <.001) but not in men (HR, 1.23; 95%CI, 0.94-1.61; P=.127). CONCLUSIONS: After an episode of acute HF in HFpEF patients, DM2 confers a higher risk of mortality in women. Further studies evaluating the impact of DM2 in women with HFpEF are warranted.

16.
Am J Med ; 2019 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-31422111

RESUMO

BACKGROUND: The optimal diuretic treatment strategy for patients with acute heart failure and renal dysfunction remains unclear. Plasma carbohydrate antigen 125 (CA125) is a surrogate of fluid overload and a potentially valuable tool for guiding decongestion therapy. The aim of this study was to determine if a CA125-guided diuretic strategy is superior to usual care in terms of short-term renal function in patients with acute heart failure and renal dysfunction at presentation. METHODS: This multicenter, open-label study randomized 160 patients with acute heart failure and renal dysfunction into 2 groups (1:1). Loop diuretics doses were established according to CA125 levels in the CA125-guided group (n = 79) and in clinical evaluation in the usual-care group (n = 81). Changes in estimated glomerular filtration rate (eGFR) at 72 and 24 hours were the co-primary endpoints, respectively. RESULTS: The mean age was 78 ± 8 years, the median amino-terminal pro-brain natriuretic peptide was 7765 pg/mL, and the mean eGFR was 33.7 ± 11.3 mL/min/1.73m2. Over 72 hours, the CA125-guided group received higher furosemide equivalent dose compared to usual care (P = 0.011), which translated into higher urine volume (P = 0.042). Moreover, patients in the active arm with CA125 >35 U/mL received the highest furosemide equivalent dose (P <0.001) and had higher diuresis (P = 0.013). At 72 hours, eGFR (mL/min/1.73m2) significantly improved in the CA125-guided group (37.5 vs 34.8, P = 0.036), with no significant changes at 24 hours (35.8 vs 39.5, P = 0.391). CONCLUSION: A CA125-guided diuretic strategy significantly improved eGFR and other renal function parameters at 72 hours in patients with acute heart failure and renal dysfunction.

17.
Cardiology ; 143(1): 14-21, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31390616

RESUMO

BACKGROUND: Statins are recommended for secondary prevention. Our aims were to describe the proportion of very elderly patients receiving statins after non-ST segment elevation acute coronary syndrome (NST-ACS) and to determine the prognostic implications of statins use. METHODS: This prospective registry was performed in 44 hospitals that included patients ≥80 years discharged after a NST-ACS from April 2016 to September 2016. RESULTS: We included 523 patients, the mean age was 84.2 ± 4.0 years and 200 patients (38.2%) were women. Previous statin treatment was recorded in 282 patients (53.4%), and 135 (32.5%) had LDL cholesterol levels >2.6 mmol/L. Mean LDL cholesterol levels during admission were 2.3 ± 0.9 mmol/L. Statins were prescribed at discharge to 474 patients (90.6%). Compared with patients discharged on statins, those that did not receive statins were more often frail (22 [47.8%] vs. 114 [24.4%], p < 0.01) and underwent an invasive approach less frequently (30 [61.2%] vs. 374 [78.9%], p = 0.01). During a 6-month follow-up, 50 patients died (9.5%). There was a nonsignificant trend to higher mortality in patients not treated with statins (6 [15%] vs. 44 [9.6%], p = 0.30), but statins were not independently associated with lower mortality (hazard ratio [HR] 0.79; 95% confidence interval [CI] 0.30-2.11, p = 0.65), nor with a reduction in the combined endpoint mortality/hospitalizations (HR 0.89; 95% CI 0.52-1.55, p = 0.69). CONCLUSIONS: Although most octogenarians presenting a NST-ACS are already on statins before the episode, their LDL cholesterol is frequently >2.6 mmol/L. Octogenarians who do not receive statins have a high-risk profile, with significant frailty and comorbidity.


Assuntos
Síndrome Coronariana Aguda/mortalidade , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Infarto do Miocárdio sem Supradesnível do Segmento ST/mortalidade , Síndrome Coronariana Aguda/terapia , Idoso de 80 Anos ou mais , LDL-Colesterol/sangue , Comorbidade , Feminino , Seguimentos , Idoso Fragilizado , Humanos , Masculino , Infarto do Miocárdio sem Supradesnível do Segmento ST/terapia , Alta do Paciente , Prognóstico , Estudos Prospectivos , Sistema de Registros , Espanha/epidemiologia
18.
Rev. esp. cardiol. (Ed. impr.) ; 72(8): 616-624, ago. 2019. tab, graf
Artigo em Espanhol | IBECS-Express | ID: ibc-ET1-4480

RESUMO

Introducción y objetivos: Los pacientes con insuficiencia cardiaca en tratamiento con antagonistas de la vitamina K (AVK) por fibrilación auricular no valvular (FANV) a menudo presentan valores alterados de la razón internacional normalizada (INR). El objetivo es evaluar la asociación entre la INR al ingreso por insuficiencia cardiaca y el riesgo de mortalidad en el seguimiento. Métodos: Estudio observacional retrospectivo en el que se evaluó la INR al ingreso de 1.137 pacientes consecutivos con insuficiencia cardiaca aguda en tratamiento con AVK por FANV. Esta se categorizó en: INR en rango óptimo (INR = 2-3, n = 210), infraterapéutica (INR < 2, n = 660) o supraterapéutica (INR > 3, n = 267). La asociación independiente entre INR y mortalidad se evaluó mediante cálculo restringido de las diferencias en tiempos de supervivencia media, dado que la INR no cumple la condición de proporcionalidad de riesgos de mortalidad. Resultados: Tras una mediana de 2,15 [0,71-4,29] años, fallecieron 495 pacientes (43,5%). En el análisis multivariable, tanto la INR infraterapéutica como la supraterapéutica se asociaron con un mayor riesgo de mortalidad, con unas diferencias en tiempos de supervivencia media a 5 años de -0,50 años (IC95%,-0,77 a -0,23; p < 0,001) y -0,40 años (IC95%, -0,70 a -0,11; p = 0,007) con respecto a los pacientes con INR 2-3. Conclusiones: La INR fuera de rango óptimo al ingreso de los pacientes con insuficiencia cardiaca aguda en tratamiento con AVK por FANV se asocia de manera independiente con un mayor riesgo de mortalidad en el seguimiento a largo plazo


Introduction and objectives: Heart failure patients with nonvalvular atrial fibrillation (NVAF) on treatment with vitamin K antagonists (VKA) often have suboptimal international normalized ratio (INR) values. Our aim was to evaluate the association between INR values at admission due to acute heart failure and mortality risk during follow-up. Methods: In this observational study, we retrospectively assessed INR on admission in 1137 consecutive patients with acute heart failure and NVAF who were receiving VKA treatment. INR was categorized into optimal values (INR = 2-3, n = 210), subtherapeutic (INR < 2, n = 660), and supratherapeutic (INR > 3, n = 267). Because INR did not meet the proportional hazards assumption for mortality, restricted mean survival time differences were used to evaluate the association among INR categories and the risk of all-cause mortality. Results: During a median [interquartile range] follow-up of 2.15 years [0.71-4.29], 495 (43.5%) patients died. On multivariable analysis, both patients with subtherapeutic and supratherapeutic INR showed higher risks of all-cause mortality, as evidenced by their restricted mean survival time differences at 5 years' follow-up: -0.50; 95%CI, -0.77 to -0.23 years; P < .001; and -0.40; 95%CI, -0.70 to -0.11 years; P = .007, respectively, compared with INR 2-3. Conclusions: In acute heart failure patients on treatment with VKA for NVAF, INR values out of normal range at admission were independently associated with a higher long-term mortality risk

19.
Clin Nutr ; 2019 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-31324416

RESUMO

BACKGROUND & AIMS: The present analysis investigated the prevalence and the prognostic implication of nutritional status in older adults hospitalized for acute coronary syndrome (ACS). METHODS: The analysis is based on older ACS patients included in the FRASER and LONGEVO SCA studies. The Global Risk of Acute Coronary Events (GRACE) risk score was computed in all patients. Nutritional status was assessed with the Mini Nutritional Assessment-Short Form (MNA-SF, normal for values between 12 and 14, at risk of malnutrition for values between 8 and 11, and malnutrition for values ≤ 7). Physical performance was assessed with the Short Physical Performance Battery (SPPB). Primary outcome was all-cause mortality. RESULTS: The study included 908 patients. Overall, 35 patients (4%) were malnourished and 361 (40%) were at risk of malnutrition. After a median follow-up of 288 [187-370] days, the primary endpoint occurred in 94 (10.5%) patients. The mortality rate was 31% in malnourished subjects, 19% in at-risk patients, 3% in patients with a normal nutritional status (p < 0.001). MNA-SF emerged as an independent predictor of all-cause mortality (HR 0.76, 95%CI 0.68-0.84 for single change unit). The MNA-SF score improved the GRACE score's ability to discriminate subjects at risk of death (ΔC-statistic = 0.076, p < 0.001; ΔBIC -28; IDI 0.052, p < 0.001; NRI 0.793, p < 0.001). The prognostic value of MNA-SF was maintained also by including the SPPB score in the predictive model. CONCLUSION: s: The MNA-SF helped to identify malnutrition in older ACS patients. Moreover, the MNA-SF value is an independent predictor of all-cause mortality and it improves the predictive value of the GRACE risk score.

20.
Front Genet ; 10: 578, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31316545

RESUMO

Families with multiple male children with intellectual disability (ID) are usually suspected of having disease due to a X-linked mode of inheritance and genetic studies focus on analysis of segregating variants in X-linked genes. However, the genetic cause of ID remains elusive in approximately 50% of affected individuals. Here, we report the analysis of next-generation sequencing data in 274 affected individuals from 135 families with a family history suggestive of X-linked ID. Genetic diagnoses were obtained for 19% (25/135) of the families, and 24% (33/135) had a variant of uncertain significance. In 12% of cases (16/135), the variants were not shared within the family, suggesting genetic heterogeneity and phenocopies are frequent. Of all the families with reportable variants (43%, 58/135), we observed that 55% (32/58) were in X-linked genes, but 38% (22/58) were in autosomal genes, while the remaining 7% (4/58) had multiple variants in genes with different modes on inheritance. This study highlights that in families with multiple affected males, X linkage should not be assumed, and both individuals should be considered, as different genetic etiologies are common in apparent familial cases.

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