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Background Chronic respiratory failure and heart involvement may occur in Duchenne muscular dystrophy. We aimed to assess the prognostic value of the right ventricular (RV) systolic dysfunction in patients with Duchenne muscular dystrophy. Methods and Results We studied 90 genetically proven patients with Duchenne muscular dystrophy from 2010 to 2019, to obtain respiratory function and Doppler echocardiographic RV systolic function. Prognostic value was assessed in terms of death and cardiac events. The median age was 27.5 years, and median forced vital capacity was at 10% of the predicted value: 83 patients (92%) were on home mechanical ventilation. An RV systolic dysfunction was found in 46 patients (51%). In patients without RV dysfunction at inclusion, a left ventricular systolic dysfunction at inclusion was associated with a higher risk of developing RV dysfunction during follow-up with an odds ratio of 4.5 (P=0.03). RV systolic dysfunction was significantly associated with cardiac events, mainly acute heart failure (62%) and cardiogenic shock (23%). In a multivariable Cox model, the adjusted hazard ratio was 4.96 (95% CI [1.09-22.6]; P=0.04). In terms of death, we found a significant difference between patients with RV dysfunction versus patients without RV dysfunction in the Kaplan-Meier curves (log-rank P=0.045). Conclusions RV systolic dysfunction is frequently present in patients with Duchenne muscular dystrophy and is associated with increased risk of cardiac events, irrespective of left ventricular dysfunction and mechanical ventilation. Registration URL: https://www.clinicaltrials.org; unique identifier: NCT02501083.
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Cardiomiopatías , Distrofia Muscular de Duchenne , Disfunción Ventricular Izquierda , Disfunción Ventricular Derecha , Adulto , Humanos , Cardiomiopatías/complicaciones , Ecocardiografía Doppler , Corazón , Distrofia Muscular de Duchenne/complicaciones , Pronóstico , Volumen Sistólico , Disfunción Ventricular Izquierda/etiología , Disfunción Ventricular Izquierda/complicaciones , Disfunción Ventricular Derecha/etiología , Disfunción Ventricular Derecha/complicaciones , Función Ventricular DerechaRESUMEN
Optimal pain management is challenging in Tactical Combat Casualty Care (TCCC), particularly in remote and austere settings. In these situations, appropriate treatment for prehospital analgesia can be limited or delayed due to the lack of intravenous access. Several guidelines suggest to implement intranasal (IN) analgesia in French Armed Forces for forward combat casualty care (Sauvetage au Combat), similar to the US TCCC. Four medical teams from the French Medical Military Service were deployed to the Middle East and Sahel from August 2017 to March 2019 and used IN ketamine for analgesia in 76 trauma patients, out of a total of 259 treated casualties. IN administration of ketamine 50mg appeared to be safe and effective, alone or in addition to other opioid analgesics. It also had minimal side effects and led to a reduction in the doses of ketamine and morphine used by the intravenous (IV) route. The French Military Medical Service supports current developments for personal devices delivering individual doses of IN ketamine. However, further studies are needed to analyze its efficacy and safety in combat zones.
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Analgesia , Servicios Médicos de Urgencia , Ketamina , Medicina Militar , Humanos , Manejo del Dolor , Ketamina/uso terapéutico , Analgésicos/uso terapéutico , Dolor/tratamiento farmacológicoRESUMEN
BACKGROUND: The aim of this study was to assess the prevalence of prediabetes and unknown diabetes and its long-term change in a large middle-aged urban population. METHODS: We conducted a screening campaign between 2007 and 2018 for cardiovascular risk factors in the western suburbs of Paris including subjects aged 40-70 (CARVAR 92). Among subjects who reported no previous diabetes, prediabetes and undiagnosed diabetes were defined as follows: fasting plasma glucose (FPG) ≥ 6.1 mmol/l (110 mg/dl) and < 7 mmol/l (126 mg/dl) for prediabetes according to WHO criteria (FPG between 5.6 and 6.9 mmol/l according to ADA criteria) and FPG ≥ 7.0 mmol/l for undiagnosed diabetes. RESULTS: Of the 32,721 subjects in the CARVAR 92 cohort, 32,675 were included in this analysis. The median age of the patients was 56 years [30, 94], 45.4% were male, 5.9% had known diabetes, 36.4% were overweight and 18.7% obese. Among patients without previously known diabetes (n = 30,759), 8.1% had prediabetes according to WHO criteria (27.2% according to ADA criteria) and 2.3% had diabetes. Subjects with prediabetes and unknown diabetes were more likely to be male, older, and overweight or obese than non-diabetic subjects. From 2007 to 2018, the prevalence of prediabetes, unknown diabetes, and known diabetes decreased, except for prediabetes which remained stable for people aged 55-64. CONCLUSION: The prevalence of prediabetes and unknown diabetes remains high but decreased during a 12-year period. About one-quarter of diabetes cases remain undiagnosed. Our results highlight that there is still a room for screening and cardiovascular prevention campaigns. TRIAL REGISTRATION: IRB00012437.
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Diabetes Mellitus , Estado Prediabético , Persona de Mediana Edad , Humanos , Masculino , Femenino , Estado Prediabético/diagnóstico , Estado Prediabético/epidemiología , Sobrepeso , Prevalencia , Población Urbana , Glucemia , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/epidemiología , Obesidad , Ayuno , Factores de RiesgoRESUMEN
Background: COVID-19 is a major pandemic with potential cardiovascular complications. Few studies have focused on electrocardiogram (ECG) modifications in COVID-19 patients. Method and results: We reviewed from our database all patients referred to our hospital for COVID-19 between January 1st, 2020, and December 31st, 2020: 669 patients were included and 98 patients died from COVID-19 (14.6%). We systematically analyzed ECG at admission and during hospitalization if available. ECG was abnormal at admission in 478 patients (71.4%) and was more frequently abnormal in patients who did not survive (88.8 vs. 68.5%, p < 0.001). The most common ECG abnormalities associated with death were left anterior fascicular block (39.8 vs. 20.0% among alive patients, p < 0.001), left and right bundle branch blocks (p = 0.002 and p = 0.02, respectively), S1Q3 pattern (14.3 vs. 6.0%, p = 0.006). In multivariate analysis, at admission, the presence of left bundle branch block remained statistically related to death [OR = 3.82, 95% confidence interval (CI): 1.52-9.28, p < 0.01], as well as S1Q3 pattern (OR = 3.17, 95% CI: 1.38-7.03, p < 0.01) and repolarization abnormalities (OR = 2.41, 95% CI: 1.40-4.14, p < 0.01).On ECG performed during hospitalization, the occurrence of new repolarization abnormality was significantly related to death (OR = 2.72, 95% CI: 1.14-6.54, p = 0.02), as well as a new S1Q3 pattern (OR = 13.23, 95% CI: 1.49-286.56, p = 0.03) and new supraventricular arrhythmia (OR = 3.8, 95% CI: 1.11-13.35, p = 0.03). Conclusion: The presence of abnormal ECG during COVID-19 is frequent. Physicians should be aware of the usefulness of ECG for risk stratification during COVID-19.
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Enfermedades Cardiovasculares , Humanos , Población Urbana , Enfermedades Cardiovasculares/diagnóstico , Enfermedades Cardiovasculares/epidemiología , Estatus Económico , Factores de Riesgo , Características de la Residencia , Factores de Riesgo de Enfermedad Cardiaca , Factores SocioeconómicosRESUMEN
BACKGROUND: Air medical evacuations by tactical aircraft are mandatory in every country, particularly in deployments abroad where hospital resources are limited. In the overseas French departments, it can be particularly useful for military and civilian scientists stationed on the very remote islands of the French Southern and Antarctic Lands. This priority medical support mission uses fixed wing CASA CN235 aircraft and is led by the French Air Force and the French Military Medical Service, in cooperation with the civilian health service.CASE REPORT: The authors present the case of a French soldier with chest trauma on an isolated island who benefited from continuum of care during his air evacuation to Reunion Island.DISCUSSION: This case illustrates that the "CASA Medevac" concept has become a crucial link in the French medical evacuation chain in remote areas. The complex organization, the human material resources, and, finally, the training program are briefly presented.Guénot P, Dubecq C, Colleu F, Dubourg O, Lec C, Bertran P-E. CASA Medevac operations proof of concept in the southern Indian Ocean zone. Aerosp Med Hum Perform. 2022; 93(6):536-539.
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Ambulancias Aéreas , Personal Militar , Aeronaves , Regiones Antárticas , Humanos , Océano ÍndicoRESUMEN
Background. We assessed the usefulness of a longitudinal strain adjusted to regional thickness in hypertrophic cardiomyopathy (HCM). Indeed, with conventional software, the width of the region of interest (ROI) is the same over the entire myocardial wall, wherein the software analyzes only partially the left ventricular (LV) hypertrophic segments. Methods. We included 110 patients: 55 patients with HCM (HCM group) and 55 healthy subjects (age- and sex-matched control group). The global longitudinal strain (GLS) and regional strain for each of the 17 segments was calculated with standard software (for two groups) and with software adjusted to the myocardial wall thickness (for the HCM group). Results. GLS was significantly decreased in the HCM group compared to the control group (−15.1 ± 4.8% versus −20.5 ± 4.3%, p < 0.0001). In the HCM group, GLS (standard method versus adjusted to thickness) measurements were not significantly different (p = 0.34). Interestingly, the regional strain adjusted to thickness was significantly lower than the standard strain in the hypertrophic segments, especially in the basal inferoseptal segment (p = 0.0002), median inferoseptal segment (p < 0.001) and median anteroseptal segment (p = 0.02). The strain adjusted to thickness was still significantly lower in the most hypertrophic segments (≥20 mm) (−3.7 ± 3%, versus −5.9 ± 4.4%, p = 0.049 in the basal inferoseptal segment and −5.7 ± 3.5% versus −8.3 ± 4.5%, p = 0.0007 in the median inferoseptal segment). In the segments with significant myocardial fibrosis, the longitudinal strain adjusted to thickness was significantly lower than the conventional strain (−8.3 ± 3.3% versus −11.4 ± 4.5%, p = 0.002). The analysis of the strain adjusted to thickness had a better feasibility (97.5% versus 99%, p = 0.01). Conclusions. The analysis of a longitudinal strain adjusted to regional thickness is feasible in HCM and allows a better evaluation of myocardial deformation, especially in the most LV hypertrophic segments.
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BACKGROUND: Cardiovascular disease is the leading cause of death and disability in older people. Traditional cardiovascular risk factors (CVRFs) still have an impact on cardiovascular risk among older people. Nevertheless, screening campaigns rarely target subjects aged over 65 years. This study aimed to assess the distribution and relevance of conventional CVRF screening in people aged over 65 years. METHODS: Between 2007 and 2018, among a screening CVRF campaign in the western suburbs of Paris (32,692 subjects), we individualized 6,577 subjects aged 65 years and over. All conventional CVRFs have been systematically assessed. RESULTS: The screening allowed to suspect hypertension in a larger proportion of subjects over 65 years compared to subjects under 65 years (27% vs. 18%, p < 0.0001). Hypertension control was higher in women compared to men but not significantly different in the age-groups (p = 0.91). Screening for diabetes mellitus was positive in 3% of older subjects and 2.4% in younger (p = 0.005). Risk assessment with dedicated score (SCORE O.P.) allowed to move toward a low-risk estimation, resulting in the diminution of intermediate risk group in women over 65 years (from 68 to 61%, p < 0.001). CONCLUSIONS: Screening CVRFs especially hypertension remains relevant in people aged over 65 years as it enables to detect unknown CVRFs in numerous subjects. Increasing awareness of CVRFs may be the first step to CVRF control, which is known to be efficient on cardiovascular mortality and functional autonomy in later life.
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Enfermedades Cardiovasculares , Hipertensión , Masculino , Femenino , Humanos , Anciano , Población Urbana , Enfermedades Cardiovasculares/diagnóstico , Enfermedades Cardiovasculares/epidemiología , Factores de Riesgo , Factores de Riesgo de Enfermedad Cardiaca , Hipertensión/diagnóstico , Hipertensión/epidemiologíaRESUMEN
BACKGROUND: Familial hypercholesterolaemia (FH) is responsible for severe hypercholesterolaemia and premature cardiovascular morbidity and mortality. The first clinical event is typically an acute coronary syndrome. Unfortunately, FH is largely underdiagnosed in the general population. AIMS: To assess the prevalence of clinical FH among patients with premature (aged≤50 years) acute myocardial infarction (MI) and compare it with FH prevalence in a control population. METHODS: We reviewed in our database all patients with premature MI (aged≤50 years) referred to Ambroise Paré Hospital from 2014 to 2018. FH prevalence was estimated via the Dutch Lipid Clinic Network score, based on personal and family history of premature cardiovascular disease and low-density lipoprotein cholesterol concentrations. FH was "possible" with a score between 3 and 5 points, "probable" with a score between 6 and 8 and "definite" with a score above 8. FH prevalence in young patients with MI was then compared with FH prevalence in a general population of the same age from the CARVAR 92 prospective cohort. RESULTS: Of the 457 patients with premature MI, 29 (6%) had "probable" or "definite" FH. In the CARVAR 92 cohort, 16 (0.16%) of 9900 subjects aged≤50 years had "probable" or "definite" FH. FH prevalence was 39 times greater among patients with premature MI than in the control population (P<0.0001). In multivariable analysis, FH was strongly associated with MI (adjusted odds ratio 38.4, 95% confidence interval 19.1-79.4). CONCLUSIONS: FH is>30-fold more common in patients referred for premature MI than in the general population; this highlights the need for FH screening after a first MI to enhance lipid-lowering therapy and allow early identification of family members.
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Síndrome Coronario Agudo , Hiperlipoproteinemia Tipo II , Síndrome Coronario Agudo/complicaciones , Síndrome Coronario Agudo/diagnóstico , Síndrome Coronario Agudo/epidemiología , Humanos , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/epidemiología , Hiperlipoproteinemia Tipo II/genética , Persona de Mediana Edad , Prevalencia , Estudios Prospectivos , Factores de RiesgoAsunto(s)
COVID-19 , Trombosis Coronaria , Infarto del Miocardio , Intervención Coronaria Percutánea , COVID-19/complicaciones , Angiografía Coronaria , Trombosis Coronaria/complicaciones , Trombosis Coronaria/diagnóstico por imagen , Trombosis Coronaria/terapia , Humanos , Infarto del Miocardio/terapia , SARS-CoV-2 , Trombectomía , Resultado del TratamientoRESUMEN
BACKGROUND: The authors assessed the performance of pocket-sized transthoracic echocardiography (pTTE) compared with standard transthoracic echocardiography (sTTE) and auscultation for early screening of valvular heart disease (VHD). Early diagnosis of significant VHD is a challenge, but it enables appropriate follow-up and implementation of the best therapeutic strategy. METHODS: sTTE, pTTE, and auscultation were performed by three different experienced physicians on 284 unselected patients. All cases of VHD detected by each of these three techniques were noted. sTTE was the gold standard. Each physician performed one examination and was blinded to the results of other examinations. RESULTS: We diagnosed a total of 301 cases of VHD, with a large predominance of regurgitant lesions: 269 cases (89.3%) of regurgitant VHD and 32 (10.7%) of stenotic VHD. pTTE was highly sensitive (85.7%) and specific (97.9%) for screening for VHD, while auscultation detected only 54.1%. All significant cases of VHD (at least mild severity) were detected on pTTE. The weighted κ coefficient between pTTE and sTTE for the assessment of mitral regurgitation was 0.71 (95% CI, 0.70-0.72), indicating good agreement. The weighted κ coefficients between pTTE and sTTE for the assessment of aortic regurgitation and aortic stenosis were 0.97 (95% CI, 0.96-0.98) and 0.98 (95% CI, 0.97-0.99), respectively, indicating excellent agreement. CONCLUSIONS: pTTE performed by physicians with level III competency in echocardiography is reliable for identifying significant VHD and should be proposed as a new screening tool.
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Insuficiencia de la Válvula Aórtica , Estenosis de la Válvula Aórtica , Enfermedades de las Válvulas Cardíacas , Insuficiencia de la Válvula Mitral , Estenosis de la Válvula Aórtica/diagnóstico por imagen , Ecocardiografía/métodos , Enfermedades de las Válvulas Cardíacas/diagnóstico por imagen , Humanos , Insuficiencia de la Válvula Mitral/diagnóstico por imagenRESUMEN
BACKGROUND: The radiological or interventional use of contrast medium exposes patients to a risk of contrast-induced nephropathy. Pre-existing kidney failure is a major risk factor. Point-of-Care Capillary blood creatinine tests are promising; their speed might help to optimize treatment decisions and patient care in these situations. METHODS: The objective of the present study was to assess the ability of a new point of care capillary blood creatinine test (Stat Sensor X-press, Nova Biomedical Cooperation, Waltham, MA, USA) to diagnose kidney failure, relative to a standard lab-based plasma creatinine assay. A total of 113 patients 33 women (29.2%) were included. The capillary blood creatinine concentration was significantly correlated with the plasma creatinine concentration in both men (Pearson's r [95% Confidence Interval (CI)] = 0.84 [0.75 - 0.89]; p<0.001) and women (Pearson's r [95%CI] = 0.95 [0.89 - 0.97]; p<0.001). The test's diagnostic performance was satisfactory, its sensitivity was 70% [35 - 93] in women and 78% [52 - 94] in men, and its specificity was 91% [72 - 99] in woman and 93% [84 - 98] in men. CONCLUSION: Rapid Point-of Care Capillary creatinine test is an easy-to-use, accurate tool for detecting kidney failure before a patient is exposed to procedures involving contrast medium. The POC test performed less well in patients over the age of 75 and in patients with high plasma creatinine level.
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Background The development of carcinoid heart disease (CaHD) is still relatively unclear. It is difficult to define an optimal follow-up for patients without any cardiac involvement at baseline. The aim of this study was to assess the prevalence and natural history of CaHD by annual echocardiographic examinations. Methods and Results We studied 137 consecutive patients (61±12 years, 53% men) with proven digestive endocrine tumor and carcinoid syndrome between 1997 and 2017. All patients underwent serial conventional transthoracic echocardiographic studies. Right-sided and left-sided CaHD were systematically assessed. We used a previous validated echocardiographic scoring system of severity for the assessment of CaHD. An increase of 25% of the score was considered to be significant. Mean follow-up was 54±45 months. Prevalence of CaHD was 27% at baseline and 32% at 5-year follow-up. Disease progression was reported in 28% of patients with initial CaHD followed up for >2 years (n=25). In patients without any cardiac involvement at baseline, occurrence of disease was 21%. CaHD occurred >5 years from the initial echocardiographic examination in 42% of our cases, especially in patients presenting with new recurrence of a digestive endocrine tumor. An increase of urinary 5-hydroxyindoleacetic acid by 25% during follow-up was identified as an independent predictor of CaHD occurrence during follow-up (hazard ratio [HR], 5.81; 95% CI, 1.19-28.38; P=0.03), as well as a maximum value of urinary 5-hydroxyindoleacetic acid >205 mg/24 h during follow-up (HR, 8.41; 95% CI, 1.64-43.07; P=0.01). Conclusions Our study demonstrates that in patients without initial CaHD, cardiac involvement may occur late and is related to serotonin. Our data emphasize the need for cardiologic follow-up in patients with recurrence of the tumor process.
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Cardiopatía Carcinoide , Progresión de la Enfermedad , Anciano , Cardiopatía Carcinoide/diagnóstico por imagen , Cardiopatía Carcinoide/patología , Cardiopatía Carcinoide/terapia , Ecocardiografía , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
Despite an extensive number of existing methods, age estimation of human remains is still an unsolved matter in the field of forensic anthropology, especially when it comes to mature adults. The specific aim of this work was to propose a combined method for age estimation, for forensic purposes, by coupling the Suchey-Brooks method and the measure of the pubic bone density. For this purpose, we used an independent test sample comprising 339 CT scans of living individuals aged 15 to 99 years old. Measurement of bone density and staging according to the Suchey-Brooks phases were performed, followed by estimation of ages based on a combined method and an existing virtual reference sample. Results highlighted a significant negative correlation between bone density and age. Good accuracy was obtained for the measurement of pubic bone density for age estimation of men and women, especially concerning mature adults, with an absolute error ranging from 9 to 16 years for all individuals. The authors propose a practical combined method consisting of, first, allocating phases according to the scannographic approach of the Suchey-Brooks method. For phases I to IV, the age estimation is given using the Suchey-Brooks method. For phases V to VI, the pubic bone density measurement is used. Further study will be needed to assess the reproducibility of these results on cadavers and dry bones, as the post-mortem process could interfere with the measurement of mineral bone density.
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Determinación de la Edad por el Esqueleto/métodos , Densidad Ósea , Hueso Púbico/diagnóstico por imagen , Sínfisis Pubiana/diagnóstico por imagen , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Modelos Estadísticos , Hueso Púbico/crecimiento & desarrollo , Sínfisis Pubiana/crecimiento & desarrollo , Reproducibilidad de los Resultados , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: Assessment and triage in an austere environment represent a major challenge in casualty care. Modern conflicts involve a significant proportion of multiple wounds, either superficial or penetrating, which complicate clinical evaluation. Furthermore, there is often poor accessibility to computed tomography scans and a limited number of surgical teams. Therefore, ultrasound (US) represents a potentially valuable tool for distinguishing superficial fragments or shrapnels from penetrating trauma requiring immediate damage-control surgery. METHODS: This retrospective observational multicenter study assessed casualties treated for 8 months by five medical teams deployed in Africa and Middle East. Two experts, who were experienced in military emergency medicine but did not take part in the missions, carried out an independent analysis for each case, evaluating the contribution of US to the following five items: triage categorization, diagnosis, clinical severity, prehospital therapeutic choices, and priority to operation room. Consensus was obtained using the Delphi method with three rounds. RESULTS: Of 325 casualties, 189 underwent US examination. The mean injury severity scale score was 25.6, and 76% were wounded by an improvised explosive device. Ultrasound was useful for confirming (23%) or excluding (63%) the suspected diagnosis made in the clinical assessment. It also helped obtain a diagnosis that had not been considered for 3% of casualties and was responsible for a major change in procedure or therapy in 4%. Ultrasound altered the surgical priority in 43% of cases. For 30% of cases, US permitted surgery to be temporarily delayed to prioritize another more urgent casualty. CONCLUSION: Ultrasound is a valuable tool for the management of mass casualties by improving treatment and triage, especially when surgical resources are limited. In some situations, US can also correct a diagnosis or improve prehospital therapeutic choices. Field medical teams should be trained to integrate US into their prehospital protocols. LEVEL OF EVIDENCE: Case series (no criterion standard), level V.
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Pruebas en el Punto de Atención , Triaje/métodos , Ultrasonografía/métodos , Heridas Relacionadas con la Guerra/diagnóstico por imagen , África , Traumatismos por Explosión/diagnóstico , Traumatismos por Explosión/diagnóstico por imagen , Francia , Humanos , Puntaje de Gravedad del Traumatismo , Medio Oriente , Medicina Militar/métodos , Estudios Retrospectivos , Heridas Relacionadas con la Guerra/diagnóstico , Heridas Relacionadas con la Guerra/terapia , Heridas por Arma de Fuego/diagnóstico , Heridas por Arma de Fuego/diagnóstico por imagenRESUMEN
AIMS: Our objective was to better understand the genetic bases of dilated cardiomyopathy (DCM), a leading cause of systolic heart failure. METHODS AND RESULTS: We conducted the largest genome-wide association study performed so far in DCM, with 2719 cases and 4440 controls in the discovery population. We identified and replicated two new DCM-associated loci on chromosome 3p25.1 [lead single-nucleotide polymorphism (SNP) rs62232870, P = 8.7 × 10-11 and 7.7 × 10-4 in the discovery and replication steps, respectively] and chromosome 22q11.23 (lead SNP rs7284877, P = 3.3 × 10-8 and 1.4 × 10-3 in the discovery and replication steps, respectively), while confirming two previously identified DCM loci on chromosomes 10 and 1, BAG3 and HSPB7. A genetic risk score constructed from the number of risk alleles at these four DCM loci revealed a 3-fold increased risk of DCM for individuals with 8 risk alleles compared to individuals with 5 risk alleles (median of the referral population). In silico annotation and functional 4C-sequencing analyses on iPSC-derived cardiomyocytes identify SLC6A6 as the most likely DCM gene at the 3p25.1 locus. This gene encodes a taurine transporter whose involvement in myocardial dysfunction and DCM is supported by numerous observations in humans and animals. At the 22q11.23 locus, in silico and data mining annotations, and to a lesser extent functional analysis, strongly suggest SMARCB1 as the candidate culprit gene. CONCLUSION: This study provides a better understanding of the genetic architecture of DCM and sheds light on novel biological pathways underlying heart failure.
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Cardiomiopatía Dilatada , Insuficiencia Cardíaca Sistólica , Proteínas Adaptadoras Transductoras de Señales/genética , Animales , Proteínas Reguladoras de la Apoptosis , Cardiomiopatía Dilatada/genética , Cromosomas , Predisposición Genética a la Enfermedad/genética , Estudio de Asociación del Genoma Completo , Insuficiencia Cardíaca Sistólica/genética , Humanos , Polimorfismo de Nucleótido Simple/genéticaRESUMEN
Effect of angiotensin-converting enzyme inhibitors (ACEI) and angiotensin II receptor blockers (ARB) among hypertensive patients with coronavirus disease 2019 (COVID-19) is debated. The aim of the COVIDECA study was to assess the outcome of ACEI and ARB among hypertensive patients presenting with COVID-19. We reviewed from the Assistance Publique-Hôpitaux de Paris healthcare record database all patients presenting with confirmed COVID-19 by RT-PCR. We compared hypertensive patients with ACEI or ARB and hypertensive patients without ACEI and ARB. Among 13,521 patients presenting with confirmed COVID-19 by RT-PCR, 2,981 hypertensive patients (mean age: 78.4 ± 13.6 years, 1,464 men) were included. Outcome of hypertensive patients was similar whatever the use or non-use of ACEI or ARB: admission in ICU (13.4% in patients with ACEI or ARB versus 14.8% in patients without ACEI/ARB, pâ¯=â¯0.35), need of mechanical ventilation (5.5% in patients with ACEI or ARB vs 6.3% in patients without ACEI/ARB, pâ¯=â¯0.45), in-hospital mortality (27.5% in patients with ACEI or ARB vs 26.7% in patients without ACEI/ARB, pâ¯=â¯0.70). In conclusion, the use of ACEI and ARB remains safe and can be maintained in hypertensive patients presenting with COVID-19.