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Although plant-soil feedback (PSF) is being recognized as an important driver of plant recruitment, our understanding of its role in species coexistence in natural communities remains limited by the scarcity of experimental studies on multispecies assemblages. Here, we experimentally estimated PSFs affecting seedling recruitment in 10 co-occurring Mediterranean woody species. We estimated weak but significant species-specific feedback. Pairwise PSFs impose similarly strong fitness differences and stabilizing-destabilizing forces, most often impeding species coexistence. Moreover, a model of community dynamics driven exclusively by PSFs suggests that few species would coexist stably, the largest assemblage with no more than six species. Thus, PSFs alone do not suffice to explain coexistence in the studied community. A topological analysis of all subcommunities in the interaction network shows that full intransitivity (with all species involved in an intransitive loop) would be rare but it would lead to species coexistence through either stable or cyclic dynamics.
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Ecosistema , Suelo , Retroalimentación , Plantas , MaderaRESUMEN
The p.Arg301Gln variant in the α -galactosidase A gene (GLA) has been poorly described in the literature. The few reports show controversial information, with both classical and nonclassical Anderson-Fabry Disease (AFD) presentation patterns. The aim of this study was to analyze the penetrance, clinical phenotype, and biochemical profile of an international cohort of patients carrying the p.Arg301Gln genetic variant in the GLA gene. This was an observational, international, and retrospective cohort case series study of patients carrying the p.Arg301Gln variant in the GLA gene associated with AFD disease. Forty-nine p.Arg301Gln GLA carriers, 41% male, were analyzed. The penetrance was 63% in the entire cohort and 1.5 times higher in men. The mean age of symptoms onset was 41 years; compared to women, men presented symptoms earlier and with a shorter delay to diagnosis. The typical clinical triad-cornea verticillate, neuropathic pain, and angiokeratomas-affected only 20% of the cohort, with no differences between genders. During follow-up, almost 20% of the patients presented some type of nonfatal cardiovascular and renal event (stroke, need for dialysis, heart failure, and arrhythmias requiring intracardiac devices), predominantly affecting men. Residual levels were the most common finding of α-GAL A enzyme activity, only a few women had a normal level; a small proportion of men had undetectable levels. The incidence of combined outcomes including all causes of death was 33%, and the cumulative incidence of all-cause mortality was 9% at the follow-up. Patients carrying the p.Arg301Gln GLA variant have a high penetrance, with predominantly cardiorenal involvement and clinical onset of the disease in middle age. Only a small proportion showed the classic clinical presentation of AFD. As in other X-linked diseases, males were more affected by severe cardiovascular and renal events. This genotype-phenotype correlation could be useful from a practical clinical point of view and for future decision making.
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Enfermedad de Fabry , Fenotipo , alfa-Galactosidasa , Humanos , Enfermedad de Fabry/genética , Masculino , alfa-Galactosidasa/genética , Femenino , Persona de Mediana Edad , Adulto , Estudios Retrospectivos , Anciano , PenetranciaRESUMEN
Epicrania fugax (EF) is a primary headache consisting of brief paroxysms of pain, lasting 1-10 s, that move through different nerve territories of one hemicranium with a linear or zigzag trajectory, although there are some clinical variants. Preventive therapy with anti-seizure medication such as gabapentin and lamotrigine are most commonly used in patients presenting with frequent and non-remitting attacks. In some cases, greater occipital nerve blockades are used for short- or long-term relief. Here, we report two patients with a paroxysmal EF-type pain who meet the criteria for EF of the International Classification of Headache Disorders, 3rd edition, with clear triggers and autonomic ocular signs and who failed multiple preventive treatments, but had a sustained response to onabotulinumtoxinA.
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Toxinas Botulínicas Tipo A , Trastornos de Cefalalgia , Humanos , Toxinas Botulínicas Tipo A/farmacología , Toxinas Botulínicas Tipo A/uso terapéutico , Cefalea/diagnóstico , Dolor , GabapentinaRESUMEN
INTRODUCTION: The frequency of visits to emergency department for asthma is a significant public health problem in pediatrics. This study aimed to identify the characteristics of children who visited the pediatric emergency department for asthma exacerbation and evaluated their therapeutic management prior to admission. METHODS: A prospective study was conducted over a 6-month period in the pediatric emergency departments of five hospitals involving children aged 1-16 years admitted to the department with a clinical diagnosis of asthma exacerbation. RESULTS: In all, 143 patients were enrolled in the study. Asthma episodes were moderate to severe in 69.2% of cases (n = 99). Initial treatment prior to admission to the emergency department was adequate in only 17.5% of cases (n = 25). Hospitalization for more than 24 h occurred in 18.2% (n = 26) patients. In children aged <3 years, viral infection was present in 91.4% cases (n = 64) and exacerbations were more severe in younger patients (P = 0.002) and children belonging to low-income stratum (P = 0.025). Only 17.4% (n = 25) were positive for SARS-CoV-2 (antigen test or polymerase chain reaction test), suggesting that the involvement of traditional respiratory viruses in asthma exacerbation continued even during pandemic. Regarding the pre-hospital care, 70.6% (n = 101) had received prior treatment, but this treatment was inadequate in 53.1% cases (n = 76). CONCLUSION: This study showed that asthmatic children and their families had little knowledge about the disease and that physicians must be sufficiently aware of current recommendations for managing asthmatic children. Admission to the emergency department for asthma could be avoided partially by better diagnosis and therapeutic education.
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Asma , Niño , Humanos , Estudios Prospectivos , Asma/diagnóstico , Asma/epidemiología , Asma/terapia , Hospitalización , Servicio de Urgencia en Hospital , HospitalesRESUMEN
This work summarizes recent studies evaluating the torsion and curvature parameters in flocculation efficiency using a hydraulic plug flow flocculator known as a Flocs Generator Reactor (FGR). Colloidal Fe(OH)3 and coal particles were used as suspension models and a cationic polyacrylamide was used for the flocculation. The effectiveness of the aggregation process (in the distinct curvature and torsion parameters, and hydrodynamic conditions) was evaluated by the settling rate of the Fe(OH)3 flocs, and flocs size by photographic analysis. As a result of curvature, a secondary flow is induced and the profiles of the flow quantities differ from those for a straight pipe. Results showed that the differences in the flocculator design influences the Fe(OH)3 flocs size and settling rates, reaching values of about 13 and 4 m/h, for the coiled and straight pipes respectively. Coal flocs generation was also shown to be dependent on the flocculator design and shear rate. Results showed that turbulent kinetic energy increases because of curvature when the torsion parameter is kept constant (pitch close to zero), enhancing the flocs formation.
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Tamaño de la Partícula , Eliminación de Residuos Líquidos , Purificación del Agua/instrumentación , Purificación del Agua/métodos , Compuestos Férricos/química , FloculaciónRESUMEN
BACKGROUND: Hypothermia is common in many plastic surgery procedures, but few measures to prevent its occurrence are taken. OBJECTIVES: This study evaluated the effect of hypothermia in patients undergoing plastic surgery procedures and the effect of utilizing simple and inexpensive measures to prevent patient hypothermia during surgery. METHODS: A randomized controlled clinical trial was performed among 3 groups of patients who underwent body contouring surgery for longer than 3.5 hours. In group 1, no protective measures were taken to prevent hypothermia; in group 2, maneuvers were applied intraoperatively for the duration of the entire surgical procedure; and in group 3, measures were taken preoperatively and intraoperatively. The results were quantified and analyzed through a bivariate analysis, including degree of hypothermia, anesthesia recovery time, time spent in the recovery area, intensity of pain, cold perception, response to opioids, and nausea. RESULTS: There were 122 patients included in the study: 43 in group 1, 39 in group 2, and 40 in group 3. All patients in group 1 had a higher degree of hypothermia, longer recovery time from anesthesia, longer overall recovery time, increased pain, increased feeling of cold, and more nausea. These patients also required a greater amount of opioids compared with the patients in groups 2 and 3. Many of the results were statistically significant. CONCLUSIONS: The adoption of simple and inexpensive measures before and during plastic surgery can prevent patient hypothermia during the procedures, leading to a shorter anesthesia recovery time and avoiding the undesirable effects associated with hypothermia. In addition, these measures may have significant economic savings.
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Contorneado Corporal/efectos adversos , Hipotermia/prevención & control , Complicaciones Intraoperatorias/prevención & control , Atención Perioperativa/métodos , Adulto , Regulación de la Temperatura Corporal , Estudios de Cohortes , Femenino , Humanos , Hipotermia/epidemiología , Hipotermia/etiología , Complicaciones Intraoperatorias/epidemiología , Complicaciones Intraoperatorias/etiología , Persona de Mediana Edad , Tempo Operativo , Factores de Tiempo , Resultado del TratamientoRESUMEN
The objective of this observational, single-center, retrospective study conducted in a Spanish tertiary hospital was to describe the real-world (RW) healthcare resource utilization (HCRU) among patients with advanced non-small-cell lung cancer (aNSCLC) who received chemotherapy (CT) or immunotherapy (IT) as first and second lines of treatment. A total of 173 patients diagnosed with aNSCLC and treated between January 2016 and August 2020 were included. The standardized average costs per patient/year were EUR 40,973.2 and EUR 22,502.4 for first-line CT and IT and EUR 140,601.3 and EUR 20,175.9 for second-line CT and IT, respectively. The average annual costs per patient associated with adverse-event (AE) onset were EUR 29,939.7 and EUR 460.7 for first-line CT and IT and EUR 35,906.4 and EUR 3206.1 for second-line CT and IT, respectively. The costs associated with disease management were EUR 33,178.0 and EUR 22,448.4 for first-line CT and IT and EUR 127,134.2 and EUR 19,663.9 for second-line CT and IT, respectively. In conclusion, IT use showed a lower average annual cost per patient, which was associated with lower HCRU for both disease and AE management, compared to the use of CT. However, these results should be further confirmed in the context of the currently implemented treatment schemes, including the combination of CT with single or dual IT.
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OBJECTIVES: This study aimed to provide information on the training profile and characteristics of injuries sustained by obstacle course racing competitors. METHODS: This research is a nationwide cross-sectional, self-administered online survey conducted in 2023. RESULTS: We analyzed the data collected from 201 obstacle course racing participants (mean age: 33.8 ± 7.1 years; 60.7% men). On average, athletes had 2.9 ± 2.4 years of obstacle course racing experience and participated in approximately four races in the previous year. Most of these races covered distances of 5-10 km (65.2%). Among the participants, 28.4% reported injuries, with the upper extremities being the most frequently affected. Approximately 19% of these injuries required medical supervision, and 2% led to hospitalization. CONCLUSION: Injury risk in obstacle course racing participants was associated with participation in a higher number of obstacle course racing competitions, reduced time between these competitions and having performed specific obstacle training.
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Background: Mechanical preparation and the formation of space for adequate obturation are included in root canal shaping, but the complex root canal anatomy may be affect it. Manufacturers have created different alloys like M-Wire, Blue-Wire, Gold-Wire or R-phase. Objective: This investigation was performed to verify the null hypothesis that there were not significant differences between size 25 instruments ESP Files Thermoflex, Protaper Ultimate, Protaper Next, Blueshaper, One Curve and 2Shape about cyclic fatigue and length of broken fragments. Material and Methods: 180 new size 25 files of the systems investigated were selected (n=30). Files were used with Endo Mate DT endo motor with speed and torque recommended by manufacturers, holding the instruments with clamping mechanism, with passive adjustment, glycerine and without pressure in a stainless-steel block. The time was calculated in seconds until fracture. Number of fatigue cycles was determined as (Resistance (s) x Speed)/60. Separated fragment lengths were calculated with digital Vernier caliper. Statistical analysis was carried out with the SPSS 18 programme at a 95% confidence level, using Levene´s Test to compare variances, Welch's Test to compare means, and Games-Howell´s Test to reveal differences between groups. Results: Levene's Test determined no equal variances (P<0.05). Welch's Test and ANOVA (P<0.05) showed significant differences in cyclic fatigue and separated fragment lengths. Games-Howell's and Bonferroni´s Test established significant differences in multiple comparisons (P<0.05). Conclusions: ESP Files Thermoflex was superior in cyclic fatigue. About separated fragment lengths, ESP Files Thermoflex, Protaper Ultimate and Blueshaper obtained longer lengths. Key words:Cyclic fatigue, continuous movement, separated fragment lengths, rotary systems.
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This paper presents a strategy to design ultrawideband power amplifiers with a fractional bandwidth of approximately 200%. It exploits a simple output matching network, which consists of a series transmission line together with a shunt stub, to compensate the output parasitic network of the device. Following this, a multisection transformer is implemented to obtain the optimal load at the intrinsic drain plane. As design examples, several output matching networks were designed for two different size GaN HEMT devices. One of these examples was implemented and characterized, and a drain efficiency from 52% to 70% and an output power between 40 dBm and 42.5 dBm were obtained, over 67% of the 5G sub-6-GHz band (i.e., 0.1 to 4 GHz). The aforementioned results, to the best of the authors' knowledge, represent the state of the art in broadband power amplifiers.
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This paper presents a simple method to design wideband Doherty power amplifiers (DPAs) based on the synthesis of a combiner network which can mimic the response of an ideal compensation of the device reactive output equivalent network and exploit the maximum power capabilities of the device. Using the Wolfspeed's CGH40006 and CG2H40025 GaN HEMT devices, two DPAs were designed and simulated to demonstrate the effectiveness of the proposed approach. In both cases, a 1.4 GHz bandwidth was obtained together with an efficiency higher than 44 and 49% at 6 dB OBO. The saturated output power was higher than 41.2 and 47 dBm over the band, for the DPAs using the CGH40006 and CG2H40025 devices, respectively.
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Formulating diets with high AME, especially in the grower and finisher phases, hinders the inclusion of alternative ingredients that are usually cheaper and have lower AME. Moreover, as the chicken grows the feed intake capacity is greater and may be able to maintain BW over a wide range of AME. The objective of this study was to evaluate the performance of chickens fed diets with progressive AME reductions, at constant or increased standardized ileal digestible (SID) lysine:AME ratio (Lys:AME). Treatment 1 (control) was formulated following the SID lysine and AME recommendations for a 4-phase feeding program. Treatment 5 was formulated with -4, -8, and -12% AME in the grower-1, grower-2, and finisher phases, respectively, and with the same Lys:AME compared with the control. Treatment 9 had the same AME as treatment 5 but higher SID lysine, increasing the Lys:AME by 1.5, 3.5, and 5.0% compared with treatment 5. In the grower-1, grower-2, and finisher phases, the final 9 dietary treatments were prepared by mixing the control diet with either treatment 5 or 9 at different proportions (75:25, 50:50, or 25:75). All birds were fed the same starter control diet. Treatments were replicated in 10 pens with 31 male chickens each, and the growth performance of birds was monitored for 42 d. Final BW linearly decreased (P < 0.05) when lowering dietary AME, but it followed a positive quadratic response with higher Lys:AME (P < 0.05). Feed intake increased (P < 0.05) with low AME, independently of the Lys:AME; but the linear regression in the feed conversion ratio (FCR) had a lower slope when the Lys:AME increased. At the end of the study, there were no differences in carcass or breast meat yield (P > 0.10). Progressively reducing AME in the last feeding phases may be a viable nutritional strategy to increase the inclusion of alternative ingredients and potentially reduce feeding costs, despite increments in feed intake and FCR. Adjusting the Lys:AME in low AME diets may help maintain the final BW of birds.
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Lisina , Animales , Masculino , Alimentación Animal/análisis , Fenómenos Fisiológicos Nutricionales de los Animales , Composición Corporal , Pollos , Dieta/veterinaria , Suplementos Dietéticos , Lisina/metabolismoRESUMEN
Hypertrophic cardiomyopathy (HCM) is a genetic disease characterised by increased left ventricle (LV) wall thickness caused by mutations in sarcomeric genes. Finding a causal mutation can help to better assess the proband's risk, as it allows the presence of the mutation to be evaluated in relatives and the follow-up to be focused on carriers. We performed an observational study of patients with HCM due to the novel p.Arg652Lys variant in the MYH7 gene. Eight families and 59 patients are described in the follow-up for a median of 63 months, among whom 39 (66%) carry the variant. Twenty-five (64%) of carriers developed HCM. A median maximum LV wall thickness of 16.5 mm was described. The LV hypertrophy was asymmetric septal in 75% of cases, with LV outflow tract obstruction in 28%. The incidence of a composite of serious adverse cardiovascular events (sudden death, aborted sudden death, appropriate implantable cardiac defibrillator discharge, an embolic event, or admission for heart failure) was observed in five (20%) patients. Given the finding of the p.Arg652Lys variant in patients with HCM, but not in controls, with evident segregation in patients with HCM from eight families and the location in an active site of the protein, we can define this variant as likely pathogenic and associated with the development of HCM.
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Cardiomiopatía Hipertrófica , Miosinas Cardíacas/genética , Cardiomiopatía Hipertrófica/genética , Muerte Súbita , Estudios de Asociación Genética , Humanos , Cadenas Pesadas de Miosina/genética , Fenotipo , Sarcómeros/genéticaRESUMEN
INTRODUCTION: Arrhythmogenic cardiomyopathy (ACM) is an inherited disease characterized by progressive fibroadipose replacement of cardiomyocytes. Its diagnosis is based on imaging, electrocardiographic, histological and genetic/familial criteria. The development of the disease is based mainly on desmosomal genes. Knowledge of the phenotypic expression of each of these genes will help in both diagnosis and prognosis. The objective of this study is to describe the genotype-phenotype association of an unknown PKP2 gene variant in a family diagnosed with ACM. METHODS: Clinical and genetic study of a big family carrying the p.Tyr168* variant in the PKP2 gene, in order to demonstrate pathogenicity of this variant, causing ACM. RESULTS: Twenty-two patients (proband and relatives) were evaluated. This variant presented with high arrhythmic load at an early age, but without evidence of structural heart disease after 20 years of follow-up, with low risk in predictive scores. We demonstrate evidence of its pathogenicity. CONCLUSIONS: The p.Tyr168* variant in the PKP2 gene causes ACM with a high arrhythmic load and with an absence of structural heart disease. This fact emphasizes the value of knowing the phenotypic expression of each variant.
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Cardiomiopatías , Cardiopatías , Arritmias Cardíacas/genética , Electrocardiografía , Estudios de Asociación Genética , HumanosRESUMEN
INTRODUCTION AND OBJECTIVES: Hereditary transthyretin amyloidosis (hATTR) is a disease caused by mutations in the transthyretin gene that frequently shows cardiac involvement due to amyloid deposition in the myocardium. Our objective was to identify cardiac involvement in a Spanish cohort. METHODS: Retrospective multicenter study of patients diagnosed with hATTR with cardiac involvement from Spanish centers. We collected demographic, clinical, and genetic data. RESULTS: A total of 181 patients from 26 centers were included (65.2% men, with a median age at diagnosis of 62 years). The most frequent mutations were Val50Met (67.7%) and Val142Ile (12.4%). The main reason for consultation was extracardiac symptoms (69%), mainly neurological. The mean N-terminal pro-B-type natriuretic peptide level was 2145±3586 pg/mL. The most characteristic electrocardiogram findings were a pseudoinfarct pattern (25.9%) and atrioventricular block (25.3%). Mean ventricular thickness was 15.4±4.1mm. Longitudinal strain was reduced in basal segments by 29.4%. Late diffuse subendocardial enhancement was observed in 58.8%. Perugini grade 2 or 3 uptake was observed in 75% of scintigraphy scans. During follow-up, 24.9% of the patients were admitted for heart failure, 34.3% required a pacemaker, and 31.6% required a liver transplant. One third (32.5%) died during follow-up, mainly due to heart failure (28.8%). The presence of non-Val50Met mutations was associated with a worse prognosis. CONCLUSIONS: HATTR cardiac amyloidosis in Spain shows heterogeneous genetic and clinical involvement. The prognosis is poor, mainly due to cardiac complications. Consequently early diagnosis and treatment are vital.
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Neuropatías Amiloides Familiares , Cardiomiopatías , Insuficiencia Cardíaca , Neuropatías Amiloides Familiares/diagnóstico , Neuropatías Amiloides Familiares/epidemiología , Neuropatías Amiloides Familiares/genética , Cardiomiopatías/diagnóstico , Cardiomiopatías/epidemiología , Cardiomiopatías/genética , Femenino , Insuficiencia Cardíaca/complicaciones , Humanos , Masculino , Persona de Mediana Edad , Prealbúmina/genética , España/epidemiologíaRESUMEN
The NKX2-5 gene encodes for a transcription factor crucial for cardiac cell differentiation and proliferation. It was the first gene associated with congenital heart disease (CHD) in humans and has been linked to conduction disorders or cardiomyopathies. However, an overlapping phenotype is not frequent in the literature. We describe a family with a novel missense mutation in the NKX2-5 gene (p.Gln181Pro) with numerous antecedents with atrial septal defect (ASD), left ventricular non-compaction (LVNC), conduction disease, and sudden cardiac death (SCD).
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INTRODUCTION AND OBJECTIVES: Sudden cardiac death (SCD) in young people often has a genetic cause. Consequently, the results of "molecular autopsy" may have important implications for their relatives. Our objective was to evaluate the diagnostic yield of a molecular autopsy program using next-generation sequencing. METHODS: We performed a prospective study of a cohort of consecutive patients who died from nonviolent SCD, aged ≤ 50 years, and who underwent molecular autopsy using large panels of next-generation sequencing, with subsequent clinical and genetic family screening. We analyzed demographic, clinical, toxicological, and genetic data. RESULTS: We studied 123 consecutive cases of SCD in persons aged ≤ 50 years. The incidence of SCD was 5.8 cases/100 000 individuals/y, mean age was 36.15±12.7 years, and 95 were men (77%). The cause was cardiac in 53%, unexplained SCD in 24%, toxic in 10.6%, and infant SCD in 4%. Among cardiac causes, ischemic heart disease accounted for 38% of deaths, arrhythmogenic cardiomyopathy for 7%, hypertrophic cardiomyopathy for 5%, and idiopathic left ventricular hypertrophy for 11%. Genetic analysis was performed in 62 cases (50.4%). Genetic variants were found in 42 cases (67.7%), with a mean of 3.4±4 genetic variants/patient, and the variant found was considered to be pathogenic or probably pathogenic in 30.6%. In unexplained SCD, 70% showed some genetic variant. Family screening diagnosed 21 carriers or affected individuals, 5 of whom were at risk, indicating an implantable cardiac defibrillator. CONCLUSIONS: Protocol-based and exhaustive study of SCD from cardiac causes in persons aged ≤ 50 years is feasible and necessary. In a high percentage of cases, the cause is genetic, indicating the existence of relatives at risk who could benefit from early diagnosis and treatment to avoid complications.
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Cardiomiopatía Hipertrófica , Muerte Súbita Cardíaca , Adolescente , Adulto , Autopsia , Cardiomiopatía Hipertrófica/genética , Muerte Súbita Cardíaca/epidemiología , Muerte Súbita Cardíaca/etiología , Femenino , Pruebas Genéticas , Humanos , Lactante , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Adulto JovenRESUMEN
Importance: Truncating variants in the gene encoding filamin C (FLNCtv) are associated with arrhythmogenic and dilated cardiomyopathies with a reportedly high risk of ventricular arrhythmia. Objective: To determine the frequency of and risk factors associated with adverse events among FLNCtv carriers compared with individuals carrying TTN truncating variants (TTNtv). Design, Setting, and Participants: This cohort study recruited 167 consecutive FLNCtv carriers and a control cohort of 244 patients with TTNtv matched for left ventricular ejection fraction (LVEF) from 19 European cardiomyopathy referral units between 1990 and 2018. Data analyses were conducted between June and October, 2020. Main Outcomes and Measures: The primary end point was a composite of malignant ventricular arrhythmia (MVA) (sudden cardiac death, aborted sudden cardiac death, appropriate implantable cardioverter-defibrillator shock, and sustained ventricular tachycardia) and end-stage heart failure (heart transplant or mortality associated with end-stage heart failure). The secondary end point comprised MVA events only. Results: In total, 167 patients with FLNCtv were studied (55 probands [33%]; 89 men [53%]; mean [SD] age at baseline evaluation, 43 [18] years). For a median follow-up of 20 months (interquartile range, 7-60 months), 29 patients (17.4%) reached the primary end point (19 patients with MVA and 10 patients with end-stage heart failure). Eight (44%) arrhythmic events occurred among individuals with baseline mild to moderate left ventricular systolic dysfunction (LVSD) (LVEF = 36%-49%). Univariable risk factors associated with the primary end point included proband status, LVEF decrement per 10%, ventricular ectopy (≥500 in 24 hours) and myocardial fibrosis detected on cardiac magnetic resonance imaging. The LVEF decrement (hazard ratio [HR] per 10%, 1.83 [95% CI, 1.30-2.57]; P < .001) and proband status (HR, 3.18 [95% CI, 1.12-9.04]; P = .03) remained independent risk factors on multivariable analysis (excluding myocardial fibrosis and ventricular ectopy owing to case censoring). There was no difference in freedom from MVA between FLNCtv carriers with mild to moderate or severe (LVEF ≤35%) LVSD (HR, 1.29 [95% CI, 0.45-3.72]; P = .64). Carriers of FLNCtv with impaired LVEF at baseline evaluation (n = 69) had reduced freedom from MVA compared with 244 TTNtv carriers with similar baseline LVEF (for mild to moderate LVSD: HR, 16.41 [95% CI, 3.45-78.11]; P < .001; for severe LVSD: HR, 2.47 [95% CI, 1.04-5.87]; P = .03). Conclusions and Relevance: The high frequency of MVA among patients with FLNCtv with mild to moderate LVSD suggests that higher LVEF values than those currently recommended should be considered for prophylactic implantable cardioverter-defibrillator therapy in FLNCtv carriers.
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Cardiomiopatía Dilatada/genética , Muerte Súbita Cardíaca/prevención & control , Filaminas/genética , Insuficiencia Cardíaca/genética , Taquicardia Ventricular/genética , Disfunción Ventricular Izquierda/genética , Adulto , Cardiomiopatía Dilatada/mortalidad , Cardiomiopatía Dilatada/fisiopatología , Cardiomiopatía Dilatada/terapia , Codón sin Sentido , Conectina/genética , Desfibriladores Implantables , Femenino , Insuficiencia Cardíaca/mortalidad , Insuficiencia Cardíaca/fisiopatología , Insuficiencia Cardíaca/terapia , Trasplante de Corazón/estadística & datos numéricos , Humanos , Masculino , Persona de Mediana Edad , Mutación , Volumen Sistólico , Taquicardia Ventricular/epidemiología , Taquicardia Ventricular/fisiopatología , Disfunción Ventricular Izquierda/fisiopatologíaRESUMEN
INTRODUCTION AND OBJECTIVES: According to sudden cardiac death guidelines, an implantable cardioverter-defibrillator (ICD) should be considered in patients with LMNA-related dilated cardiomyopathy (DCM) and ≥ 2 risk factors: male sex, left ventricular ejection fraction (LVEF) <45%, nonsustained ventricular tachycardia (NSVT), and nonmissense genetic variants. In this study we aimed to describe the clinical characteristics of carriers of LMNA genetic variants among individuals from a Spanish cardiac-laminopathies cohort (REDLAMINA registry) and to assess previously reported risk criteria. METHODS: The relationship between risk factors and cardiovascular events was evaluated in a cohort of 140 carriers (age ≥ 16 years) of pathogenic LMNA variants (54 probands, 86 relatives). We considered: a) major arrhythmic events (MAE) if there was appropriate ICD discharge or sudden cardiac death; b) heart failure death if there was heart transplant or death due to heart failure. RESULTS: We identified 11 novel and 21 previously reported LMNA-related DCM variants. LVEF <45% (P=.001) and NSVT (P <.001) were related to MAE, but not sex or type of genetic variant. The only factor independently related to heart failure death was LVEF <45% (P <.001). CONCLUSIONS: In the REDLAMINA registry cohort, the only predictors independently associated with MAE were NSVT and LVEF <45%. Therefore, female carriers of missense variants with either NSVT or LVEF <45% should not be considered a low-risk group. It is important to individualize risk stratification in carriers of LMNA missense variants, because not all have the same prognosis.
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Laminopatías , Adolescente , Muerte Súbita Cardíaca/epidemiología , Muerte Súbita Cardíaca/etiología , Desfibriladores Implantables , Femenino , Humanos , Masculino , Sistema de Registros , Factores de Riesgo , Volumen Sistólico , Taquicardia Ventricular , Función Ventricular IzquierdaRESUMEN
BACKGROUND: Soil-transmitted helminths (STHs) comprise a group of helminth parasites that are included in the list of Neglected Tropical Diseases and require a passage through the soil to become infective. Several studies have detected that infection with STHs are associated with certain socioeconomic, environmental and soil characteristics. In Argentina, the presence of these parasites has been detected through a few point studies conducted in localities from 11 of the 23 provinces that comprise the country. METHODS/PRINCIPAL FINDINGS: The most important characteristics previously associated with the presence of STHs were identified and ranked through the use of an expert survey and the Analytical Hierarchy Process (AHP) in order to construct a risk map of STHs specific for Argentina. Prevalence data from previous studies was used to validate the generated risk map. The map shows that half of Argentina, from the Central provinces to the North, contains localities with the characteristics necessary for the development of these parasites. CONCLUSIONS/SIGNIFICANCE: The predicted map should serve as a useful tool for guiding the identification of survey areas for the generation of baseline data, detecting hotspots of infection, planning and prioritizing areas for control interventions, and eventually performing post-implementation surveillance activities.