RESUMEN
CTNNB1 pathogenic variants are related to the improper functioning of the WNT/ß-catenin pathway, promoting the development of different types of cancer of somatic origin. Bioinformatics analyses of genetic variation are a great tool to understand the possible consequences of these variants on protein structure and function and their probable implication in pathologies. The objective of this study is to describe the impact of the missense variants of uncertain significance (VUS) of the CTNNB1 gene on structure and function of the ß-catenin protein. The CTNNB1 variants were obtained from the GnomAD v2.1.1 database; subsequently, a bioinformatic analysis was performed using the VarSome, UCSC Genome Browser, UniProt, the Kinase Library database, and DynaMut2 platforms to evaluate clinical significance, gene conservation, consensus sites for post-translational modifications, and the dynamics and stability of proteins. The GnomAD v2.1.1 database included 826 variants of the CTNNB1 gene, of which 385 were in exons and exon/intron boundaries. Among these variants, 214 were identified as missense, of which 146 were classified as VUS. Notably, 12 variants were in proximity to consensus sites for post-translational modifications (PTMs). The in silico analysis showed a slight tendency towards probably pathogenic for c.59C>T (p.Ala20Val) and c.983T>C (p.Met328Thr) missense VUS. These findings provide possible functional implications of these variants in some types of cancer.
Asunto(s)
Simulación por Computador , Bases de Datos Genéticas , Mutación Missense , beta Catenina , beta Catenina/genética , Humanos , Biología Computacional/métodos , Procesamiento Proteico-Postraduccional/genética , Neoplasias/genéticaRESUMEN
BACKGROUND: LIPA, situated on chromosome 10q23.2-q23.3, encodes the enzyme lysosomal acid lipase (LAL) (EC 3.1.1.13). Genetic alterations in LIPA lead to lysosomal acid lipase deficiency (LALD), an inborn error causing lipid metabolism anomalies and impairing cholesterol and triacylglyceride degradation. Over 40 LIPA variants have been documented, yet this study focuses on just two. The rs1051338 variant (NM_000235:c.46A>C) affects the signal peptide in Exon 2, whereas rs116928232, located in Exon 8, alters the splice site (NM_000235:c.894G>A), impacting lysosomal acid lipase activity. Considering the diverse clinical manifestations of LALD and the rising hepatic steatosis prevalence in Mexican population, mainly due to diet, these variants were investigated within this demographic to uncover potential contributing factors. This study aimed to reveal the frequency of rs1051338 and rs116928232 among healthy mestizo individuals in Northwest Mexico, marking a significant genetic exploration in this demographic. METHODS: Three hundred ten healthy mestizo individuals underwent PCR-RFLP analysis for both variants, and Sanger sequencing was performed for variant rs116928232. Bioinformatic analysis was also performed to predict protein changes. RESULTS: Allele frequencies for rs1051338 (FA = 0.39, p value = 0.15) and rs116928232 (FA = 0.0016, p value = 0.49) aligned with reported data, while bioinformatic analysis allowed us to identify the protein alteration observed in both variants; finally, the variants showed no linkage between them (normalized D' = 1.03, p value = 0.56). CONCLUSIONS: Allelic frequencies closely matched reported data, and protein structure analysis confirmed variant impacts on LAL enzyme function. Notably, this study marks the first analysis of rs1051338 and rs116928232 in a healthy Mexican mestizo population.
Asunto(s)
Frecuencia de los Genes , Polimorfismo de Nucleótido Simple , Esterol Esterasa , Humanos , México/epidemiología , Masculino , Femenino , Esterol Esterasa/genética , Adulto , Polimorfismo de Nucleótido Simple/genética , Persona de Mediana Edad , Adulto JovenRESUMEN
We searched for the prevalence of actionable somatic mutations in exon 2 of the KRAS gene in western Mexican patients with CRC. Tumor tissue DNA samples from 150 patients with sporadic CRC recruited at the Civil Hospital of Guadalajara were analyzed. Mutations in exon 2 of the KRAS gene were identified using Sanger sequencing, and the data were analyzed considering clinical-pathological characteristics. Variants in codon 12 (rs121913529 G>A, G>C, and G>T) and codon 13 (rs112445441 G>A) were detected in 26 patients (with a prevalence of 17%). No significant associations were found between these variants and clinical-pathological characteristics (p > 0.05). Furthermore, a comprehensive search was carried out in PubMed/NCBI and Google for the prevalence of KRAS exon 2 mutations in Latin American populations. The 17 studies included 12,604 CRC patients, with an overall prevalence of 30% (95% CI = 0.26-0.35), although the prevalence ranged from 13 to 43% across the different data sources. Determining the variation and frequency of KRAS alleles in CRC patients will enhance their potential to receive targeted treatments and contribute to the understanding of the genomic profile of CRC.
RESUMEN
The aim of the present study was first to isolate Helicobacter pylori from gastric biopsy specimens and to test their antibiotic susceptibility. Second, it was to evaluate the efficacy of the standard triple therapy from patients of the west central region of Colombia. H. pylori positive patients received standard triple therapy with proton pump inhibitor (PPI) (40 mg b.i.d.), clarithromycin (500 mg b.i.d.), and amoxicillin (1 g b.i.d.) for 14 days. Thereafter, antibiotic susceptibility of the isolates was assessed by E-Test. From 94 patients enrolled, 67 were positive for H. pylori by histology or culture. Overall resistance to metronidazole, levofloxacin, rifampicin, clarithromycin, and amoxicillin was 81%, 26.2%, 23.9%, 19%, and 9.5%, respectively. No resistance was found for tetracycline. A total of 54 patients received standard triple therapy, 48 attended follow-ups testing, and of them, 30 had resistance test reports. Overall eradication rate was 81.2%. Second-line treatment was given to eight patients, four of whom were followed up with a 13C urea breath test (UBT) and remained positive for H. pylori. Eradication was significantly higher in patients with clarithromycin susceptible than in resistant strains (95.6% vs 42.8% P = 0.001). The updated percentages of resistance to clarithromycin in this geographical area had increased, so this value must be considered when choosing the treatment regimen.IMPORTANCEAntibiotic resistance in Helicobacter pylori has increased worldwide, as has resistance to multiple antimicrobials (MDRs), which seriously hampers the successful eradication of the infection. The ideal success rate in eradicating H. pylori infection (≥90%) was not achieved in this study (81.2%). This is the first time that MDR is reported (14.3%) in the region; the resistance to clarithromycin increased over time (3.8%-19%), and levofloxacin (26.2%) and rifampicin (23%) resistant isolates were detected for the first time. With these results, strain susceptibility testing is increasingly important, and the selection of treatment regimen should be based on local antibiotic resistance patterns.
Asunto(s)
Amoxicilina , Antibacterianos , Claritromicina , Quimioterapia Combinada , Infecciones por Helicobacter , Helicobacter pylori , Pruebas de Sensibilidad Microbiana , Humanos , Helicobacter pylori/efectos de los fármacos , Helicobacter pylori/aislamiento & purificación , Helicobacter pylori/genética , Colombia , Infecciones por Helicobacter/tratamiento farmacológico , Infecciones por Helicobacter/microbiología , Masculino , Femenino , Persona de Mediana Edad , Antibacterianos/uso terapéutico , Antibacterianos/farmacología , Adulto , Claritromicina/farmacología , Claritromicina/uso terapéutico , Amoxicilina/uso terapéutico , Amoxicilina/farmacología , Anciano , Inhibidores de la Bomba de Protones/uso terapéutico , Farmacorresistencia Bacteriana , Adulto Joven , Metronidazol/uso terapéutico , Metronidazol/farmacología , Levofloxacino/farmacología , Levofloxacino/uso terapéutico , Resultado del TratamientoRESUMEN
Early-onset Alzheimer's disease (EOAD), defined as Alzheimer's disease onset before 65 years of age, has been significantly less studied than the "classic" late-onset form (LOAD), although EOAD often presents with a more aggressive disease course, caused by variants in the APP, PSEN1, and PSEN2 genes. EOAD has significant differences from LOAD, including encompassing diverse phenotypic manifestations, increased genetic predisposition, and variations in neuropathological burden and distribution. Phenotypically, EOAD can be manifested with non-amnestic variants, sparing the hippocampi with increased tau burden. The aim of this article is to review the different genetic bases, risk factors, pathological mechanisms, and diagnostic approaches between EOAD and LOAD and to suggest steps to further our understanding. The comprehension of the monogenic form of the disease can provide valuable insights that may serve as a roadmap for understanding the common form of the disease.
RESUMEN
BACKGROUND: Coronary artery obstruction after percutaneous aortic replacement is a complication with high short-term mortality secondary to the lack of timely treatment. There are various predictors of coronary obstruction prior to valve placement such as the distance from the ostia, the degree of calcification, the distance from the sinuses; In such a situation some measures must be taken to prevent and treat coronary obstruction. CASE PRESENTATION: An 84-year-old male, with severe aortic stenosis and high surgical risk, who was treated with TAVR. However, during the deployment of the valve he presented hemodynamic instability secondary to LMCA obstruction. The intravascular image showed obstruction of the ostium secondary to the displacement of calcium that he was successfully treated with a chimney stent technique. CONCLUSIONS: The high degree of calcification and the left ostium near the annulus are conditions for obstruction of the ostium at the time of valve release; In this context, provisional stenting prior to TAVR in patients at high risk of obstruction should be considered as a safe prevention strategy to achieve the success of the procedure.
Asunto(s)
Estenosis de la Válvula Aórtica , Calcinosis , Oclusión Coronaria , Prótesis Valvulares Cardíacas , Reemplazo de la Válvula Aórtica Transcatéter , Masculino , Humanos , Anciano de 80 o más Años , Reemplazo de la Válvula Aórtica Transcatéter/efectos adversos , Reemplazo de la Válvula Aórtica Transcatéter/métodos , Válvula Aórtica/cirugía , Vasos Coronarios/cirugía , Prótesis Valvulares Cardíacas/efectos adversos , Factores de Riesgo , Resultado del Tratamiento , Oclusión Coronaria/etiología , Calcinosis/complicaciones , Calcinosis/cirugía , Estenosis de la Válvula Aórtica/complicaciones , Diseño de PrótesisRESUMEN
A man in his mid-70s, heavy smoker with chronic alcohol consumption and a chronic exposure to insecticides and burning of crop residues was referred to the surgical oncology department because of a 4-month onset of hoarseness, dyspnoea and laryngeal stridor. He had a history of left nephrectomy due to Fuhrman IV clear cell renal cancer 2 years ago. The patient underwent a bronchoscopy which identified a deforming tumour of the left vallecula, occlusion of 90% of the lumen and did not allow a safe biopsy. Following discussion between the oncological team, total laryngectomy and bilateral neck dissection of levels II, III, IV and V were performed, finding a transglottic tumour of approximately 4×3 cm with extension to the right anterolateral thyroid cartilage. The pathology report described metastatic RCC. The patient recovered well postoperatively and started systemic therapy with a vascular endothelial growth factor receptors inhibitor.
Asunto(s)
Carcinoma de Células Renales , Neoplasias Renales , Neoplasias Laríngeas , Laringe , Masculino , Humanos , Carcinoma de Células Renales/cirugía , Carcinoma de Células Renales/secundario , Factor A de Crecimiento Endotelial Vascular , Neoplasias Laríngeas/diagnóstico , Neoplasias Laríngeas/cirugía , Neoplasias Laríngeas/patología , Neoplasias Renales/cirugía , Neoplasias Renales/patología , Laringe/patologíaRESUMEN
Introducción. La etapa universitaria representa un período crucial en la vida de los individuos, donde el desarrollo de hábitos saludables es fundamental. Objetivo. Evaluar la capacidad de autocuidado en estudiantes de una universidad mexicana y su variación a través del tiempo. Materiales y Métodos. Estudio observacional, analítico, prospectivo y longitudinal con 67 estudiantes, bajo muestreo no aleatorio por conveniencia, aplicando en cuatro ocasiones a lo largo de dos años la escala Appraisal of Self-care Agency Scale (ASA) en español, que evalúa la capacidad de autocuidado. El análisis de los datos se realizó a través de la prueba de ANOVA de mediciones repetidas y el modelo lineal de efectos mixtos multinivel. El protocolo fue evaluado y avalado por los Comités de Ética e Investigación de la Institución. Resultados. Se observaron variaciones significativas en la capacidad de autocuidado entre la medida basal y la segunda medición (p=0,001), entre la medida basal y la cuarta medición (p<0,001), pero no entre la medida basal y la tercera medición (p=0,128). Al evaluar las mediciones distintas según el sexo, la facultad, la nacionalidad, el estado civil y el trabajo mientras se estudia, se encontraron diferencias significativas (p<0,001). Conclusión. Existe una variación de la capacidad de autocuidado en estudiantes universitarios a través del tiempo, resaltando la necesidad de intervenciones en Promoción de la Salud. Palabras clave: autocuidado; estudiantes; universidades; salud pública
Introduction. The university stage represents a crucial period in individuals' lives, where the development of healthy habits is fundamental. Objective.To evaluate self-care capacity in students from a Mexican university and its variation over time. Materials and Methods.An observational, analytical, prospective, and longitudinal study with 67 students, using convenience sampling, applying the Appraisal of Self-care Agency Scale (ASA) in Spanish on four occasions over two years, which assesses self-care capacity. Dataanalysis was performed through the repeated measures ANOVA test and the multilevel mixed-effects linear model. The protocol was evaluated and endorsed by the Institution's Ethics and Research Committees. Results.Significant variations in self-care capacity were observed between the baseline measurement and the second measurement (p=0.001), between the baseline measurement and the fourth measurement (p<.001), but not between the baseline measurement and the third measurement (p=0.128). When evaluating different measurements according to sex, faculty, nationality, marital status, and working while studying, significant differences were found (p<0.001). Conclusion.There exists a variation in self-care capacity among university students over time, emphasizing the need for Health Promotion interventions. Key words:self-care; students; universities;public health
Asunto(s)
Masculino , Femenino , Adulto , Persona de Mediana Edad , Autocuidado , Estudiantes , Universidades , Salud PúblicaRESUMEN
The use of prostaglandin E1 is well documented in ductus arteriosus-dependent CHD or in neonatal pulmonary pathologies that cause severe pulmonary hypertension. The intravenous infusion is well established in loading infusion and maintenance with an onset of action of 30 minutes until 2 hours or even more. Our aim is to report three patients with pulmonary atresia that presented hypercyanotic spell due to a ductal spasm during cardiac catheterisation in whom the administration of a bolus of alprostadil reversed the spasm and increased pulmonary flow, immediately stabilising the condition of the patients allowing subsequent successful stent placement with no serious complications or sequelae after the administration of the bolus. More studies are needed to make a recommendation regarding the use of alprostadil in bolus in cases where the ductal spasm might jeopardise the life of the patient.
Asunto(s)
Conducto Arterioso Permeable , Conducto Arterial , Cardiopatías Congénitas , Recién Nacido , Humanos , Alprostadil/uso terapéutico , Conducto Arterioso Permeable/tratamiento farmacológico , EspasmoRESUMEN
La insuficiencia renal aguda (IRA) es una de las complicaciones más frecuentes en los pacientes hospitalizados, siendo un factor de riesgo de mortalidad. Es de suma importancia identificar la asociación de factores clínicos que empeoran la mortalidad en pacientes con IRA internados en una unidad de terapia intensiva (UTI). Se incluyeron 218 pacientes, de los cuales el 63,7% (n=139) correspondieron a hombres con un promedio de edad de 43±19 años. El análisis de correlación de variables de control, dependiente e independiente fue a través del coeficiente de Spearman y el OR fue analizado mediante regresión logística. De los 218 pacientes, falleció el 33% (n=72) de los pacientes internados en UTI. La IRA ocurrió en 28,4% (n=62) del total de pacientes y de estos, el 61,3% (n=38) fallecieron, con un OR de 4,94 (p 0,0001). La mayor proporción de fallecidos perteneció a la categoría AKIN 3. Las variables clínicas de ventilación mecánica (PR 3,57, IC 95%, 0,34-37,93), uso de drogas vasoactivas (PR 8,32, IC 95%, 3,20-21,64), puntuación APACHE III (PR 1,12, IC 95%, 1,03-1,23), edad (PR 1,01, IC 95%, 0,99-1,04) y los sometidos a cirugía (PR 0,28, IC 95%, 0,10-0,80) tuvieron asociación positiva y aumentaron la mortalidad. La presencia de variables clínicas de ventilación mecánica, la utilización de drogas vasoactivas, sepsis, el estudio APACHE III, la edad, la categoría AKIN 3, y el antecedente de cirugía previo al ingreso a UTI aumentan significativamente la mortalidad en pacientes con IRA en UTI.
Acute renal failure (ARF) is one of the most frequent complications in hospitalized patients and is a risk factor for mortality. It is extremely important to identify the association of clinical factors that worsen mortality in patients with ARF admitted to an intensive care unit (ICU). A total of 218 patients were included, of which 63.7% (n=139) were men with a mean age of 43±19 years. The correlation analysis of control, dependent, and independent variables was done through Spearman's coefficient and the OR was analyzed through logistic regression. Of the 218 patients, 33% (n=72) died in the ICU. ARF occurred in 28.4% (n=62) of all patients and of these, 61.3% (n=38) died, with an OR of 4.94 (p 0.0001). The highest proportion of deceased patients were in the AKIN 3 category. The clinical variables of mechanical ventilation (PR 3.57, 95% CI, 0.34-37.93), use of vasoactive drugs (PR 8.32, 95% CI, 3.20-21.64), APACHE III score (PR 1.12, 95% CI, 1.03-1.23), age (PR 1.01, 95% CI, 0.99-1.04) and those who underwent surgery (PR 0.28, 95% CI, 0.10-0.80) had a positive association and increased mortality. The presence of clinical variables of mechanical ventilation, the use of vasoactive drugs, sepsis, APACHE III stage, age, AKIN 3 category, and a history of surgery before admission to the ICU significantly increase mortality in patients with ARF in ICU.
RESUMEN
Resumo A endocardite infecciosa na população pediátrica é uma condição rara que pode ou não estar associada a uma cardiopatia congênita. As modalidades de tratamento atuais baseiam-se na antibioticoterapia de longo prazo e na ressecção cirúrgica como primeira opção para casos de vegetação persistente. Apresentamos um caso de recuperação percutânea bem-sucedida de vegetação em canal arterial patente, que se estendia ao tronco da artéria pulmonar em um paciente pediátrico. Este é o primeiro relato na literatura desse tipo de extração de vegetação no canal arterial sem toracotomia.
Abstract Infective endocarditis in the pediatric population is a rare condition that may or may not be associated with a congenital heart disease. Current treatment modalities are based on long-term antibiotic therapy and surgical resection as the first option for cases of persistent vegetation. We present a case of successful percutaneous retrieval of a vegetation in a patent ductus arteriosus, that extended to the pulmonary artery trunk in a pediatric patient. This is the first report in the literature on this type of extraction of vegetation in the ductus arteriosus without thoracotomy.
RESUMEN
Microorganisms have a close relationship with humans, whether it is commensal, symbiotic, or pathogenic. Recently, it has been documented that microorganisms may influence the response to drug therapy. Pharmacomicrobiomics is an emerging field that focuses on the study of how variations in the microbiome affect the disposition, action, and toxicity of drugs. Two additional sciences have been added to complement pharmacomicrobiomics, namely toxicomicrobiomics, which explores how the microbiome influences drug metabolism and toxicity, and pharmacoecology, which refers to modifications in the microbiome as a result of drug administration. In this context, we introduce the concept of "drug-infection interaction" to describe the influence of pathogenic microorganisms on drug response. This review analyzes the current state of knowledge regarding the relevance of microorganisms in the host's response to drugs. It also highlights promising areas for future research and proposes the term "drug-infection interaction" as an extension of pharmacomicrobiomics.
Asunto(s)
Antiinfecciosos , Microbiota , Humanos , Antiinfecciosos/farmacología , Antiinfecciosos/uso terapéutico , Preparaciones Farmacéuticas/metabolismo , Microbiota/fisiologíaRESUMEN
Introduction: Therapeutic adherence for childhood anemia is addressed in health services with unsatisfactory results. Therefore, the implementation of this strategy will favor greater adherence to treatment with ferrous sulfate. Objective: To evaluate the effect of virtual health messages on maternal therapeutic adherence for childhood anemia. Materials and Methods: A pre-experimental and longitudinal study was developed between November and December 2022, in which 24 mothers of children diagnosed with anemia participated. Adherence was determined using a test and inferential analysis through the Wilcoxon test. Results: The mothers were between 18 and 29 years old (50.0 %), of rural origin (66.7 %), who completed primary school (33.3 %), housewives (83.3 %), and cohabitants (79.2 %). In the pre-test, high adherence was observed in social factors (50 %), health personnel (75 %), illness (87.5 %), and person supplementing the ferrous sulfate and the patient (75.5 %). The overall adherence was medium in the pretest (50.0 %) and high in the post-test (100.0 %). Message reception was high for the overall test (62.6 %), reminder (79.2 %), informational (79.2 %), and motivational (75.0 %) messages. Conclusion: Virtual health messages have a positive effect on maternal therapeutic adherence for childhood anemia (p < 0.05) and their inclusion in primary health services will contribute favorably to obtaining optimal results.
Introducción: la adherencia terapéutica de anemia infantil es un tópico abordado en los servicios de salud, con resultados poco satisfactorios; por lo tanto, la implementación de esta estrategia favorecerá una mayor adherencia al tratamiento con sulfato ferroso. Objetivo: evaluar el efecto de los mensajes virtuales en salud sobre la adherencia terapéutica materna de anemia infantil. Materiales y Métodos: se desarrolló un estudio preexperimental y longitudinal entre noviembre y diciembre de 2022, en el cual participaron 24 madres de niños diagnosticados con anemia; la adherencia se determinó mediante un test y el análisis inferencial por medio de la prueba de Wilcoxon. Resultados: Las madres tenían entre 18 y 29 años (50,0 %), procedencia rural (66,7 %), primaria completa (33,3 %), amas de casa (83,3 %) y convivientes (79,2 %). En el pretest, se observó alta adherencia en factores sociales (50 %), personal de salud (75 %), enfermedad (87,5 %), persona que suplementa y paciente (75,5 %), y adherencia media en factores relacionados a la suplementación (54,2 %); en el postest, la adherencia alta se presentó en factores sociales (100,0 %), personal de salud (100,0 %), enfermedad (87,5 %), suplementación (95,8 %), persona que suministra el sulfato ferroso y paciente (100,0 %). La adherencia global fue media en el pretest (50,0 %) y alta en el postest (100,0 %). La recepción de mensajes fue alta para el test global (62,6 %), mensajes recordatorios (79,2 %), informativos (79,2 %) y motivacionales (75,0 %). Conclusión: los mensajes virtuales en salud tienen un efecto positivo en la adherencia terapéutica materna de anemia infantil (p < 0,05) y su inclusión en los servicios primarios de salud contribuirá favorablemente en la obtención de resultados óptimos.
Introdução: a adesão ao tratamento da anemia infantil é um tema abordado nos serviços de saúde, com resultados insatisfatórios; portanto, a implementação dessa estratégia favorecerá uma maior adesão ao tratamento com sulfato ferroso. Objetivo: avaliar o efeito das mensagens virtuais de saúde na adesão materna ao tratamento da anemia infantil. Materiais e método: foi realizado um estudo pré-experimental e longitudinal entre novembro e dezembro de 2022, do qual participaram 24 mães de crianças diagnosticadas com anemia; a adesão foi determinada por meio de um teste e a análise inferencial, por meio do teste de Wilcoxon. Resultados: as mães tinham entre 18 e 29 anos de idade (50 %), eram de áreas rurais (66,7 %), concluíram o ensino fundamental (33,3 %), eram donas de casa (83,3 %) e viviam juntas (79,2 %). No pré-teste, foi observada alta adesão em fatores sociais (50 %), equipe de saúde (75 %), doença (87,5 %), pessoa que suplementa e paciente (75,5 %), e adesão média em fatores relacionados à suplementação (54,2 %); no pós-teste, foi observada alta adesão em fatores sociais (100 %), equipe de saúde (100 %), doença (87,5 %), suplementação (95,8 %), pessoa que fornece sulfato ferroso e paciente (100 %). A adesão geral foi média no pré-teste (50 %) e alta no pós-teste (100 %). A recepção das mensagens foi alta para o teste geral (62,6 %), lembretes (79,2 %), mensagens informativas (79,2 %) e motivacionais (75 %). Conclusões: as mensagens virtuais de saúde têm um efeito positivo na adesão materna ao tratamento da anemia infantil (p < 0,05) e sua inclusão nos serviços de saúde primários contribuirá favoravelmente para a otimização dos resultados.
RESUMEN
INTRODUCCIÓN: La hipertensión arterial pulmonar puede estar asociada secundariamente a enfermedades del tejido conectivo. Entre estas enfermedades, predominan la esclerosis sistémica y la dermatomiositis juvenil. MATERIALES Y MÉTODOS: Se realizó un estudio retrospectivo, descriptivo y transversal. Se incluyeron todos los pacientes con diagnóstico de dermatomiositis juvenil y esclerosis sistémica que acudieron a nuestro hospital. Posteriormente se verificaron los niveles de presión arterial pulmonar mediante ecocardiografía. RESULTADOS: Se incluyeron 58 pacientes, de los cuales sólo 17 pacientes tuvieron ecocardiografía diagnóstica. Entre ellos, dos pacientes presentaron hipertensión arterial pulmonar. CONCLUSIÓN: La detección oportuna de la hipertensión arterial pulmonar en las enfermedades del tejido conectivo es esencial. Generalmente es asintomático. Es necesario adherirse al protocolo internacional que sugiere realizar ecocardiografía en todos los pacientes con dermatomiositis juvenil y esclerosis sistémica.
INTRODUCTION: Pulmonary arterial hypertension may be secondary associated with connective tissue diseases. Among these diseases, systemic sclerosis and juvenile dermatomyositis predominate. MATERIALS AND METHODS: A retrospective, descriptive and cross-sectional study was carried out. All patients with a diagnosis of juvenile dermatomyositis and systemic sclerosis who attended our hospital were included. Pulmonary arterial pressure levels were subsequently verified by echocardiography. RESULTS: 58 patients were included, of which only 17 patients had a diagnostic echocardiography. Among them, two patients presented pulmonary arterial hypertension. CONCLUSION: Timely detection of pulmonary arterial hypertension in connective tissue diseases is essential. It is generally asymptomatic. It is necessary to adhere to the international protocol that suggests performing echocardiography in all patients with juvenile dermatomyositis and systemic sclerosis.