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1.
Phytopathology ; 113(8): 1387-1393, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37081724

RESUMEN

Strains of Xanthomonas citri pv. malvacearum cause bacterial blight of cotton, a potentially serious threat to cotton production worldwide, including in sub-Saharan countries. Development of disease symptoms, such as water soaking, has been linked to the activity of a class of type 3 effectors, called transcription activator-like (TAL) effectors, which induce susceptibility genes in the host's cells. To gain further insight into the global diversity of the pathogen, to elucidate their repertoires of TAL effector genes, and to better understand the evolution of these genes in the cotton-pathogenic xanthomonads, we sequenced the genomes of three African strains of X. citri pv. malvacearum using nanopore technology. We show that the cotton-pathogenic pathovar of X. citri is a monophyletic lineage containing at least three distinct genetic subclades, which appear to be mirrored by their repertoires of TAL effectors. We observed an atypical level of TAL effector gene pseudogenization, which might be related to resistance genes that are deployed to control the disease. Our work thus contributes to a better understanding of the conservation and importance of TAL effectors in the interaction with the host plant, which can inform strategies for improving resistance against bacterial blight in cotton.

3.
Rev. colomb. cardiol ; 29(4): 404-411, jul.-ago. 2022. tab, graf
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1408000

RESUMEN

Resumen Introducción: la hipertensión arterial es uno de los factores principales de morbimortalidad cardiovascular, con una prevalencia en aumento, por lo cual se considera como uno de los factores principales prevenibles y tratables de mortalidad1. En Colombia no se cuenta con datos que correlacionen cambios ecocardiográficos con los valores obtenidos en el monitoreo ambulatorio de presión arterial en 24 horas. Objetivo: evaluar las posibles relaciones entre la presión arterial sistólica y diastólica promedio en 24 horas con los desenlaces: grosor relativo de pared (GRP), volumen auricular izquierdo indexado, fracción de eyección ventricular izquierda (FEVI) y masa ventricular indexada. Materiales y métodos: estudio observacional, descriptivo, de corte transversal, en pacientes colombianos con datos ecocardiográficos y resultados de MAPA del servicio de cardiología del Hospital de San José, entre junio de 2018 y diciembre de 2019. Resultados: se incluyeron 70 pacientes; se encontró posible relación entre la presión arterial sistólica promedio en 24 horas y el volumen auricular izquierdo indexado (p = 0.004), la presión arterial diastólica promedio en 24 horas y el grosor relativo de pared (p = 0.032). Conclusión: en este estudio se encontró una posible asociación entre volumen auricular izquierdo y presión arterial sistólica promedio en 24 h, GRP y presión arterial diastólica promedio en 24 h. Se hacen necesarios más estudios para confirmar estos hallazgos.


Abstract Introduction: Arterial hypertension is one of the main factor associated with cardiovascular morbidity and mortality with increasing prevalence, so it is considered as a key factor to treat to decrease cardiovascular disease. There is no data in Colombia that correlates echocardiographic parameters with meassures of blood pressure obtained by a 24 h ambulatory blood pressure monitoring. Objective: To evaluate possible relations between 24 hour blood pressure monitoring and relative wall thickness, left atrial volume index, left ventricular ejection fraction and ventricular mass index. Materials and methods: A cross sectional, observational, descriptive trial in Colombian patients between june 2018 to dicember 2019 with echocardiographic and 24 h blood pressure monitoring data from the cardiology deparment of the Hospital de San José. Results: 70 patients were included. a possible relation was found between 24 h systolic blood pressure monitoring and 24 h diastolic pressure monitoring with left atrial volume index (p = 0.004) and relative wall thickness (p = 0.032) respectively. Conclusion: A possible association was found between 24 h systolic blood pressure monitoring and 24 h diastolic blood pressure monitoring with left atrial volume index and relative wall thickness respectively. It is necessary to conduct more studies to confirm this finding.

4.
Pregnancy Hypertens ; 29: 92-97, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35820290

RESUMEN

OBJECTIVE: We sought to determine if soluble levels of C5b-9, the terminal complement complex, correlate with end-organ injury in preeclampsia. STUDY DESIGN: Project COPA (Complement and Preeclampsia in the Americas), a multi-center observational study in Colombia from 2015 to 2016, enrolled hypertensive pregnant women into four groups: chronic hypertension, gestational hypertension, preeclampsia, and preeclampsia with severe features. Trained coordinators collected clinical data, blood and urine. End-organ injury was defined by serum creatinine ≥ 1.0 mg/dl, aspartate transaminase ≥ 70U/L, platelet count < 150,000/µl, or lactate dehydrogenase ≥ 500 U/L. Data were analyzed by χ2 or Fisher's exact test with significance at P < 0.05. MAIN OUTCOME MEASURE: C5b-9 concentrations in plasma and urine, using enzyme linked immunosorbent assays. RESULTS: In total, 298 hypertensive participants were enrolled. Plasma and urine C5b-9 levels were measured in all participants and stratified by quartile (Q1-4), from lowest to highest C5b-9 concentration. Participants with low plasma C5b-9 levels (Q1) were more likely to have end-organ injury compared to those with higher levels (Q2-Q4) [platelet count < 150,000/µl (20.8% vs. 8.4%, P = 0.01); elevated serum creatinine ≥ 1.0 mg/dl (14.9% vs. 4.5%, P = 0.009)]. In contrast, participants with high urinary C5b-9 levels (Q4) were more likely to have end-organ injury compared to those with lower levels (Q1-Q3) [platelet count < 150,000/µl (19.7% vs. 7.4%, P = 0.003); elevated serum creatinine ≥ 1.0 mg/dl (12.3% vs. 4.4%, P = 0.025)]. CONCLUSION: We identified a pattern of increased urine and low plasma C5b-9 levels in patients with preeclampsia and end-organ injury. Soluble C5b-9 levels may be used to identify complement-mediated end-organ injury in preeclampsia.


Asunto(s)
Hipertensión , Preeclampsia , Complejo de Ataque a Membrana del Sistema Complemento/orina , Proteínas del Sistema Complemento , Creatinina , Femenino , Humanos , Hipertensión/orina , Embarazo
5.
Rev. colomb. cardiol ; 29(3): 364-367, mayo-jun. 2022. graf
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1407990

RESUMEN

Resumen Los complejos ventriculares prematuros (CVP) son hallazgos frecuentes en individuos con o sin enfermedad estructural cardiaca. Los CVP cuyo origen se localiza en la región parahisiana son poco frecuentes y su manejo a través de ablación con catéter de radiofrecuencia es un reto, pues su localización favorece un alto riesgo de desarrollo de bloqueo aurículo-ventricular. Se describen dos casos de pacientes con CVP parahisianos llevados a ablación con catéter de radiofrecuencia.


Abstract Premature ventricular complexes (PVC) are common findings in patients with or without structural heart disease. Parahisian PVC are uncommon and their management through radiofrequency catheter ablation remains a challenge, since their location favors a high risk for developing atrioventricular block. Two cases of patients with parahisian PVC undergoing radiofrequency catheter ablation are described.

6.
Curr Probl Cardiol ; 47(10): 100937, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34446272

RESUMEN

Brugada syndrome (BrS) is characterized by ventricular arrhythmias in patients without structural cardiac alteration. Some patients present repeated episodes of ventricular tachycardia. Epicardial catheter ablation makes it possible to decrease arrhythmic recurrence in these patients.


Asunto(s)
Síndrome de Brugada , Ablación por Catéter , Taquicardia Ventricular , Arritmias Cardíacas , Electrocardiografía , Ventrículos Cardíacos , Humanos
8.
Sci Rep ; 11(1): 24141, 2021 12 17.
Artículo en Inglés | MEDLINE | ID: mdl-34921170

RESUMEN

Non-coding small RNAs (sRNA) act as mediators of gene silencing and regulate plant growth, development and stress responses. Early insights into plant sRNAs established a role in antiviral defense and they are now extensively studied across plant-microbe interactions. Here, sRNA sequencing discovered a class of sRNA in rice (Oryza sativa) specifically associated with foliar diseases caused by Xanthomonas oryzae bacteria. Xanthomonas-induced small RNAs (xisRNAs) loci were distinctively upregulated in response to diverse virulent strains at an early stage of infection producing a single duplex of 20-22 nt sRNAs. xisRNAs production was dependent on the Type III secretion system, a major bacterial virulence factor for host colonization. xisRNA loci overlap with annotated transcripts sequences, with about half of them encoding protein kinase domain proteins. A number of the corresponding rice cis-genes have documented functions in immune signaling and xisRNA loci predominantly coincide with the coding sequence of a conserved kinase motif. xisRNAs exhibit features of small interfering RNAs and their biosynthesis depend on canonical components OsDCL1 and OsHEN1. xisRNA induction possibly mediates post-transcriptional gene silencing but they do not broadly suppress cis-genes expression on the basis of mRNA-seq data. Overall, our results identify a group of unusual sRNAs with a potential role in plant-microbe interactions.


Asunto(s)
Regulación de la Expresión Génica de las Plantas , Oryza , Enfermedades de las Plantas , Hojas de la Planta , ARN de Planta , ARN Pequeño no Traducido , Regulación hacia Arriba , Xanthomonas/crecimiento & desarrollo , Oryza/genética , Oryza/metabolismo , Oryza/microbiología , Enfermedades de las Plantas/genética , Enfermedades de las Plantas/microbiología , Hojas de la Planta/genética , Hojas de la Planta/metabolismo , Hojas de la Planta/microbiología , ARN de Planta/biosíntesis , ARN de Planta/genética , ARN Pequeño no Traducido/biosíntesis , ARN Pequeño no Traducido/genética
9.
Sci Rep ; 11(1): 21502, 2021 11 02.
Artículo en Inglés | MEDLINE | ID: mdl-34728643

RESUMEN

Biotic stresses, including diseases, severely affect rice production, compromising producers' ability to meet increasing global consumption. Understanding quantitative responses for resistance to diverse pathogens can guide development of reliable molecular markers, which, combined with advanced backcross populations, can accelerate the production of more resistant varieties. A candidate gene (CG) approach was used to accumulate different disease QTL from Moroberekan, a blast-resistant rice variety, into Vandana, a drought-tolerant variety. The advanced backcross progeny were evaluated for resistance to blast and tolerance to drought at five sites in India and the Philippines. Gene-based markers were designed to determine introgression of Moroberekan alleles for 11 CGs into the progeny. Six CGs, coding for chitinase, HSP90, oxalate oxidase, germin-like proteins, peroxidase and thaumatin-like protein, and 21 SSR markers were significantly associated with resistance to blast across screening sites. Multiple lines with different combinations, classes and numbers of CGs were associated with significant levels of race non-specific resistance to rice blast and sheath blight. Overall, the level of resistance effective in multiple locations was proportional to the number of CG alleles accumulated in advanced breeding lines. These disease resistant lines maintained tolerance to drought stress at the reproductive stage under blast disease pressure.


Asunto(s)
Adaptación Fisiológica , Resistencia a la Enfermedad/genética , Sequías , Regulación de la Expresión Génica de las Plantas , Oryza/genética , Enfermedades de las Plantas/genética , Proteínas de Plantas/metabolismo , Resistencia a la Enfermedad/inmunología , Oryza/crecimiento & desarrollo , Oryza/inmunología , Enfermedades de las Plantas/inmunología , Enfermedades de las Plantas/microbiología , Proteínas de Plantas/genética
10.
Rev. invest. clín ; 73(3): 145-153, May.-Jun. 2021. tab, graf
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1280451

RESUMEN

ABSTRACT Background: Andersen-Tawil syndrome (ATS) is a cardiac channelopathy that is inherited in an autosomal dominant way, and it is characterized by a triad of periodic paralysis, ventricular arrhythmias, and includes some dysmorphic features with incomplete penetrance and variable expression that result in a challenging diagnosis. Objective: The objective of the study was to describe the cardiac and extra-cardiac phenotype in a cohort of patients with ATS at risk of sudden cardiac death (SCD) to improve its early clinical identification. Methods: In an observational, transversal study, with a deviant case sampling, four female patients with ATS at high risk of SCD were included in the study. They carried the heterozygous pathogenic variants c.407C>T [p.Ser136Phe], c.652C>T [p.Arg218Trp] (n=2), and c.431G>C [p.Gly144Ala] in the KCNJ2 gene. Patients were evaluated by a cardiologist, a clinical geneticist, and a physiatrist. Results: One patient had the classical facial phenotype and the other three had subtle manifestations. The group of patients presented a diverse set of clinical data such as: triangular face, broad forehead, broadening of medial eyebrows, auricular pits, low-set ears, eyelid ptosis, thin lips, mandibular hypoplasia, and diverse types of dental alterations, single transverse palmar crease, camptodactyly, and syndactyly. Long-exercise test showed a decrement in the percentage amplitude up to 44%, classifying patients in IV or V types according to Fournier’s scale. Conclusions: Extra-cardiac manifestations were a common finding in this series of ATS type1 at high risk of SCD. Its recognition could help the clinician in the early identification of patients with ATS, especially for the cardiologist since they are commonly referred only for evaluation of ventricular arrhythmias.

11.
Arch Cardiol Mex ; 91(1): 93-99, 2021.
Artículo en Español | MEDLINE | ID: mdl-33661876

RESUMEN

La terapia de resincronización cardiaca mediante estimulación hisiana ha demostrado ser efectiva en pacientes con bloqueo de rama izquierda del haz de His e insuficiencia cardiaca. Paciente masculino, con 47 años de edad, con insuficiencia cardiaca, fracción de expulsión del 17% y miocardio dilatada idiopática, electrocardiograma en ritmo sinusal, bloqueo auriculoventricular de 1.er grado, intervalo PR 400 ms, bloqueo completo de rama derecha del haz de His, bloqueo del fascículo anterior de la rama izquierda del haz de His, duración del QRS 200 ms. Se decidió realizar estimulación selectiva del haz de His. La resincronización cardiaca biventricular convencional en pacientes con presencia de bloqueo completo de la rama derecha del haz de His no está indicada debido a la pobre respuesta al tratamiento. La estimulación hisiana permite reclutar la rama bloqueada y reestablecer la conducción a través de ella, de tal forma que, en ausencia de necrosis, se logre sincronía biventricular. En el caso presentado el reclutamiento de la rama derecha mediante estimulación hisiana se reflejó en el restablecimiento de la sincronía biventricular, medida por rastreo de marcas (speckle tracking) e incremento significativo de la fracción de expulsión del ventrículo izquierdo del 17 al 36.6%, con un incremento absoluto del 19.6%.Cardiac resynchronization therapy has proven to be an effective therapy in patients with left bundle branch block and heart failure. Male, 47 years old, heart failure with a left ventricle ejection fraction of 17%, idiopathic heart failure. ECG with sinus rhythm, 1st degree AV block, PR 400 ms, complete right bundle branch block, anterior hemi-fascicle of the left bundle of His, and QRS duration 200 ms. We decided to perform a selective His bundle pacing. In patients with right bundle branch block the biventricular cardiac resynchronization is not indicated due to low treatment response. His bundle pacing allows recruiting the blocked branch and restoring conduction throughout it, therefore, in the absence of necrosis the biventricular synchrony is achieved. We presented a case of His bundle pacing with recruitment of the right bundle branch, which reestablish biventricular synchrony measured by speckle tracking, and with a significant increase of the left ventricle ejection fraction from 17 to 36.6%, with an absolute increase of 19.6%.


Asunto(s)
Fascículo Atrioventricular , Bloqueo de Rama/terapia , Terapia de Resincronización Cardíaca , Bloqueo de Rama/complicaciones , Insuficiencia Cardíaca/complicaciones , Humanos , Masculino , Persona de Mediana Edad
12.
Arch. cardiol. Méx ; 91(1): 93-99, ene.-mar. 2021. graf
Artículo en Español | LILACS | ID: biblio-1152865

RESUMEN

Resumen La terapia de resincronización cardiaca mediante estimulación hisiana ha demostrado ser efectiva en pacientes con bloqueo de rama izquierda del haz de His e insuficiencia cardiaca. Paciente masculino, con 47 años de edad, con insuficiencia cardiaca, fracción de expulsión del 17% y miocardio dilatada idiopática, electrocardiograma en ritmo sinusal, bloqueo auriculoventricular de 1.er grado, intervalo PR 400 ms, bloqueo completo de rama derecha del haz de His, bloqueo del fascículo anterior de la rama izquierda del haz de His, duración del QRS 200 ms. Se decidió realizar estimulación selectiva del haz de His. La resincronización cardiaca biventricular convencional en pacientes con presencia de bloqueo completo de la rama derecha del haz de His no está indicada debido a la pobre respuesta al tratamiento. La estimulación hisiana permite reclutar la rama bloqueada y reestablecer la conducción a través de ella, de tal forma que, en ausencia de necrosis, se logre sincronía biventricular. En el caso presentado el reclutamiento de la rama derecha mediante estimulación hisiana se reflejó en el restablecimiento de la sincronía biventricular, medida por rastreo de marcas (speckle tracking) e incremento significativo de la fracción de expulsión del ventrículo izquierdo del 17 al 36.6%, con un incremento absoluto del 19.6%.


Abstract Cardiac resynchronization therapy has proven to be an effective therapy in patients with left bundle branch block and heart failure. Male, 47 years old, heart failure with a left ventricle ejection fraction of 17%, idiopathic heart failure. ECG with sinus rhythm, 1st degree AV block, PR 400 ms, complete right bundle branch block, anterior hemi-fascicle of the left bundle of His, and QRS duration 200 ms. We decided to perform a selective His bundle pacing. In patients with right bundle branch block the biventricular cardiac resynchronization is not indicated due to low treatment response. His bundle pacing allows recruiting the blocked branch and restoring conduction throughout it, therefore, in the absence of necrosis the biventricular synchrony is achieved. We presented a case of His bundle pacing with recruitment of the right bundle branch, which reestablish biventricular synchrony measured by speckle tracking, and with a significant increase of the left ventricle ejection fraction from 17 to 36.6%, with an absolute increase of 19.6%.


Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Bloqueo de Rama/terapia , Fascículo Atrioventricular , Terapia de Resincronización Cardíaca , Bloqueo de Rama/complicaciones , Insuficiencia Cardíaca/complicaciones
13.
Microorganisms ; 9(2)2021 Feb 04.
Artículo en Inglés | MEDLINE | ID: mdl-33557009

RESUMEN

Transcription activator-like effectors (TALEs) play a significant role for pathogenesis in several xanthomonad pathosystems. Xanthomonas phaseoli pv. manihotis (Xpm), the causal agent of Cassava Bacterial Blight (CBB), uses TALEs to manipulate host metabolism. Information about Xpm TALEs and their target genes in cassava is scarce, but has been growing in the last few years. We aimed to characterize the TALE diversity in Colombian strains of Xpm and to screen for TALE-targeted gene candidates. We selected eighteen Xpm strains based on neutral genetic diversity at a country scale to depict the TALE diversity among isolates from cassava productive regions. RFLP analysis showed that Xpm strains carry TALomes with a bimodal size distribution, and affinity-based clustering of the sequenced TALEs condensed this variability mainly into five clusters. We report on the identification of 13 novel variants of TALEs in Xpm, as well as a functional variant with 22 repeats that activates the susceptibility gene MeSWEET10a, a previously reported target of TAL20Xam668. Transcriptomics and EBE prediction analyses resulted in the selection of several TALE-targeted candidate genes and two potential cases of functional convergence. This study provides new bases for assessing novel potential TALE targets in the Xpm-cassava interaction, which could be important factors that define the fate of the infection.

14.
Genes (Basel) ; 13(1)2021 12 22.
Artículo en Inglés | MEDLINE | ID: mdl-35052356

RESUMEN

Sodium voltage-gated channel α subunit 5 (SCN5A)-mutations may cause an array of arrhythmogenic syndromes most frequently as an autosomal dominant trait, with incomplete penetrance, variable expressivity and male predominance. In the present study, we retrospectively describe a group of Mexican patients with SCN5A-disease causing variants in whom the onset of symptoms occurred in the pediatric age range. The study included 17 patients with clinical diagnosis of primary electrical disease, at least one SCN5A pathogenic or likely pathogenic mutation and age of onset <18 years, and all available first- and second-degree relatives. Fifteen patients (88.2%) were male, and sixteen independent variants were found (twelve missense, three truncating and one complex inframe deletion/insertion). The frequency of compound heterozygosity was remarkably high (3/17, 17.6%), with early childhood onset and severe disease. Overall, 70.6% of pediatric patients presented with overlap syndrome, 11.8% with isolated sick sinus syndrome, 11.8% with isolated Brugada syndrome (BrS) and 5.9% with isolated type 3 long QT syndrome (LQTS). A total of 24/45 SCN5A mutation carriers were affected (overall penetrance 53.3%), and penetrance was higher in males (63.3%, 19 affected/30 mutation carriers) than in females (33.3%, 5 affected/15 carriers). In conclusion, pediatric patients with SCNA-disease causing variants presented mainly as overlap syndrome, with predominant loss-of-function phenotypes of sick sinus syndrome (SSS), progressive cardiac conduction disease (PCCD) and ventricular arrhythmias.


Asunto(s)
Canalopatías/genética , Corazón/fisiología , Canal de Sodio Activado por Voltaje NAV1.5/genética , Adolescente , Arritmias Cardíacas/genética , Síndrome de Brugada/genética , Trastorno del Sistema de Conducción Cardíaco/genética , Niño , Preescolar , Femenino , Heterocigoto , Humanos , Lactante , Síndrome de QT Prolongado/genética , Masculino , Mutación/genética , Penetrancia , Fenotipo , Polimorfismo de Nucleótido Simple/genética , Estudios Retrospectivos , Síndrome del Seno Enfermo/genética
15.
Plant Biotechnol J ; 19(1): 51-63, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-32594636

RESUMEN

Effective and durable disease resistance for bacterial blight (BB) of rice is a continuous challenge due to the evolution and adaptation of the pathogen, Xanthomonas oryzae pv. oryzae (Xoo), on cultivated rice varieties. Fundamental to this pathogens' virulence is transcription activator-like (TAL) effectors that activate transcription of host genes and contribute differently to pathogen virulence, fitness or both. Host plant resistance is predicted to be more durable if directed at strategic virulence factors that impact both pathogen virulence and fitness. We characterized Tal7b, a minor-effect virulence factor that contributes incrementally to pathogen virulence in rice, is a fitness factor to the pathogen and is widely present in geographically diverse strains of Xoo. To identify sources of resistance to this conserved effector, we used a highly virulent strain carrying a plasmid borne copy of Tal7b to screen an indica multi-parent advanced generation inter-cross (MAGIC) population. Of 18 QTL revealed by genome-wide association studies and interval mapping analysis, six were specific to Tal7b (qBB-tal7b). Overall, 150 predicted Tal7b gene targets overlapped with qBB-tal7b QTL. Of these, 21 showed polymorphisms in the predicted effector binding element (EBE) site and 23 lost the EBE sequence altogether. Inoculation and bioinformatics studies suggest that the Tal7b target in one of the Tal7b-specific QTL, qBB-tal7b-8, is a disease susceptibility gene and that the resistance mechanism for this locus may be through loss of susceptibility. Our work demonstrates that minor-effect virulence factors significantly contribute to disease and provide a potential new approach to identify effective disease resistance.


Asunto(s)
Oryza , Xanthomonas , Proteínas Bacterianas/genética , Proteínas Bacterianas/metabolismo , Resistencia a la Enfermedad/genética , Regulación de la Expresión Génica de las Plantas , Estudio de Asociación del Genoma Completo , Oryza/genética , Oryza/metabolismo , Enfermedades de las Plantas/genética , Sitios de Carácter Cuantitativo , Factores de Virulencia/genética
16.
Sci Adv ; 6(46)2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-33188025

RESUMEN

Vascular plant pathogens travel long distances through host veins, leading to life-threatening, systemic infections. In contrast, nonvascular pathogens remain restricted to infection sites, triggering localized symptom development. The contrasting features of vascular and nonvascular diseases suggest distinct etiologies, but the basis for each remains unclear. Here, we show that the hydrolase CbsA acts as a phenotypic switch between vascular and nonvascular plant pathogenesis. cbsA was enriched in genomes of vascular phytopathogenic bacteria in the family Xanthomonadaceae and absent in most nonvascular species. CbsA expression allowed nonvascular Xanthomonas to cause vascular blight, while cbsA mutagenesis resulted in reduction of vascular or enhanced nonvascular symptom development. Phylogenetic hypothesis testing further revealed that cbsA was lost in multiple nonvascular lineages and more recently gained by some vascular subgroups, suggesting that vascular pathogenesis is ancestral. Our results overall demonstrate how the gain and loss of single loci can facilitate the evolution of complex ecological traits.


Asunto(s)
Xanthomonas , Bacterias , Hidrolasas , Filogenia , Plantas/genética , Xanthomonas/genética
17.
Rev Invest Clin ; 73(5)2020 May 07.
Artículo en Inglés | MEDLINE | ID: mdl-33057326

RESUMEN

BACKGROUND: Andersen-Tawil syndrome (ATS) is a cardiac channelopathy that is inherited in an autosomal dominant way, and it is characterized by a triad of periodic paralysis, ventricular arrhythmias, and includes some dysmorphic features with incom- plete penetrance and variable expression that result in a challenging diagnosis. OBJECTIVE: The objective of the study was to describe the cardiac and extra-cardiac phenotype in a cohort of patients with ATS at risk of sudden cardiac death (SCD) to improve its early clinical identification. METHODS: In an observational, transversal study, with a deviant case sampling, four female patients with ATS at high risk of SCD were included in the study. They carried the heterozygous pathogenic variants c.407C>T [p.Ser136Phe], c.652C>T [p.Arg218Trp] (n=2), and c.431G>C [p.Gly144Ala] in the KCNJ2 gene. Patients were evaluated by a cardiologist, a clinical geneticist, and a physiatrist. RESULTS: One patient had the classical facial phenotype and the other three had subtle manifestations. The group of patients presented a diverse set of clinical data such as: triangular face, broad forehead, broadening of medial eyebrows, auricular pits, low-set ears, eyelid ptosis, thin lips, mandibular hypoplasia, and diverse types of dental alterations, single transverse palmar crease, camptodactyly, and syndactyly. Long-exercise test showed a decrement in the percentage amplitude up to 44%, classifying patients in IV or V types according to Fournier's scale. CONCLUSIONS: Extra- cardiac manifestations were a common finding in this series of ATS type1 at high risk of SCD. Its recognition could help the clinician in the early identification of patients with ATS, especially for the cardiologist since they are commonly referred only for evaluation of ventricular arrhythmias.

18.
Clín. investig. arterioscler. (Ed. impr.) ; 32(3): 101-110, mayo-jun. 2020. tab
Artículo en Español | IBECS | ID: ibc-193354

RESUMEN

ANTECEDENTES Y OBJETIVO: Los datos sobre la distribución de las dislipidemias en Colombia son limitados. El objetivo primario de este estudio fue describir la frecuencia de las dislipidemias; los objetivos secundarios fueron: la frecuencia de comorbilidades cardiovasculares, el uso de estatinas y otros hipolipemiantes, la frecuencia de intolerancia a estatinas, el porcentaje de pacientes en metas de c-LDL, y estimar la distribución del riesgo cardiovascular (RCV). MATERIALES Y MÉTODOS: Estudio transversal con recolección de datos retrospectiva que incluyó a 461 pacientes con diagnóstico de dislipidemia tratados en 17 centros cardiovasculares de alta complejidad en las 6 principales áreas geográficas y económicas de Colombia. RESULTADOS: La media (DE) de edad de los pacientes incluidos fue de 66,4 (±12,3) años. El 53,4% (246) eran mujeres. Las dislipidemias se distribuyeron así: dislipidemia mixta (51,4%), hipercolesterolemia (41,0%), hipertrigliceridemia (5,4%), hipercolesterolemia familiar (3,3%) y c-HDL bajo (0,7%). El medicamento más prescrito fue atorvastatina (75,7%), seguido de rosuvastatina (24,9%). El 55% del total de pacientes y el 28,6% de aquellos con enfermedad coronaria no estaban en metas de c-LDL a pesar del tratamiento. La frecuencia de intolerancia a estatinas fue del 2,6%. CONCLUSIONES: La dislipidemia mixta y la hipercolesterolemia son las dislipidemias más frecuentes. Un porcentaje considerable de pacientes en tratamiento, incluidos aquellos con enfermedad coronaria, no lograron sus objetivos de c-LDL. Este inadecuado control lipídico influye en el RCV y requiere un cambio en las estrategias terapéuticas, intensificando el tratamiento con estatinas o adicionando nuevos fármacos en los pacientes con mayor RCV


BACKGROUND AND OBJECTIVE: Data is scarce on the distribution of different types of dyslipidaemia in Colombia. The primary objective was to describe the frequency of dyslipidaemias. The secondary objectives were: frequency of cardiovascular comorbidity, statins and other lipid-lowering drugs use, frequency of statins intolerance, percentage of patients achieving c-LDL goals, and distribution of cardiovascular risk (CVR). MATERIALS AND METHODS: Cross-sectional study with retrospective data collection from 461 patients diagnosed with dyslipidaemia and treated in 17 highly specialised centres distributed into six geographic and economic regions of Colombia. RESULTS: Mean (SD) age was 66.4 (±12.3) years and 53.4% (246) were women. Dyslipidaemias were distributed as follows in order of frequency: mixed dyslipidaemia (51.4%), hypercholesterolaemia (41.0%), hypertriglyceridaemia (5.4%), familial hypercholesterolaemia (3.3%), and low c-HDL (0.7%). The most prescribed drugs were atorvastatin (75.7%) followed by rosuvastatin (24.9%). As for lipid control, 55% of all patients, and 28.6% of those with coronary heart disease, did not achieve their personal c-LDL goal despite treatment. The frequency of statin intolerance was 2.6% in this study. CONCLUSIONS: Mixed dyslipidaemia and hypercholesterolaemia are the most frequent dyslipidaemias in Colombia. A notable percentage of patients under treatment with lipid-lowering drugs, including those with coronary heart disease, did not achieve specific c-LDL goals. This poor lipid control may worsen patient's CVR, so that therapeutic strategies need to be changed, either with statin intensification or addition of new drugs in patients with higher CVR


Asunto(s)
Humanos , Masculino , Femenino , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Dislipidemias/terapia , Dislipidemias/epidemiología , Comorbilidad , Colombia/epidemiología , Enfermedades Cardiovasculares/tratamiento farmacológico , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Hipolipemiantes/uso terapéutico , Estudios Transversales , Dislipidemias/diagnóstico , Hipercolesterolemia/tratamiento farmacológico , Hiperlipoproteinemia Tipo II/tratamiento farmacológico , Hipertrigliceridemia/tratamiento farmacológico
19.
J Electrocardiol ; 60: 72-76, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32304903

RESUMEN

Although most cases of Brugada syndrome have been described in adults, pediatric patients with the disease have been reported since the original article from Josep and Pedro Brugada. Herein is presented the case series of Brugada syndrome in pediatric population of the National Institute of Cardiology Ignacio Chavez. One boy and two adolescent males had palpitations as clinical presentation of the disease. Atrial arrhythmias were documented in two, in the third case there was a high clinical suspicion and quinidine abolished symptoms. The aim of this report is to highlight the importance of performing a detailed clinical history as well as the usefulness of high precordial leads for the diagnosis of this entity.


Asunto(s)
Síndrome de Brugada , Adolescente , Arritmias Cardíacas , Síndrome de Brugada/diagnóstico , Niño , Muerte Súbita Cardíaca , Electrocardiografía , Humanos , Masculino , Quinidina/uso terapéutico
20.
Clin Investig Arterioscler ; 32(3): 101-110, 2020.
Artículo en Inglés, Español | MEDLINE | ID: mdl-32284160

RESUMEN

BACKGROUND AND OBJECTIVE: Data is scarce on the distribution of different types of dyslipidaemia in Colombia. The primary objective was to describe the frequency of dyslipidaemias. The secondary objectives were: frequency of cardiovascular comorbidity, statins and other lipid-lowering drugs use, frequency of statins intolerance, percentage of patients achieving c-LDL goals, and distribution of cardiovascular risk (CVR). MATERIALS AND METHODS: Cross-sectional study with retrospective data collection from 461 patients diagnosed with dyslipidaemia and treated in 17 highly specialised centres distributed into six geographic and economic regions of Colombia. RESULTS: Mean (SD) age was 66.4 (±12.3) years and 53.4% (246) were women. Dyslipidaemias were distributed as follows in order of frequency: mixed dyslipidaemia (51.4%), hypercholesterolaemia (41.0%), hypertriglyceridaemia (5.4%), familial hypercholesterolaemia (3.3%), and low c-HDL (0.7%). The most prescribed drugs were atorvastatin (75.7%) followed by rosuvastatin (24.9%). As for lipid control, 55% of all patients, and 28.6% of those with coronary heart disease, did not achieve their personal c-LDL goal despite treatment. The frequency of statin intolerance was 2.6% in this study. CONCLUSIONS: Mixed dyslipidaemia and hypercholesterolaemia are the most frequent dyslipidaemias in Colombia. A notable percentage of patients under treatment with lipid-lowering drugs, including those with coronary heart disease, did not achieve specific c-LDL goals. This poor lipid control may worsen patient's CVR, so that therapeutic strategies need to be changed, either with statin intensification or addition of new drugs in patients with higher CVR.


Asunto(s)
Dislipidemias/tratamiento farmacológico , Inhibidores de Hidroximetilglutaril-CoA Reductasas/administración & dosificación , Hipolipemiantes/administración & dosificación , Anciano , Anciano de 80 o más Años , LDL-Colesterol/sangre , Colombia/epidemiología , Estudios Transversales , Dislipidemias/epidemiología , Dislipidemias/fisiopatología , Femenino , Humanos , Inhibidores de Hidroximetilglutaril-CoA Reductasas/efectos adversos , Hipolipemiantes/efectos adversos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos
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