Revista de la Facultad de Medicina最新文献

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La preeclampsia, el sistema inmune y la placenta 子痫前期、免疫系统和胎盘
Revista de la Facultad de Medicina Pub Date : 2023-09-10 DOI: 10.22201/fm.24484865e.2023.66.5.01
Teresa I. Fortoul van der Goes
{"title":"La preeclampsia, el sistema inmune y la placenta","authors":"Teresa I. Fortoul van der Goes","doi":"10.22201/fm.24484865e.2023.66.5.01","DOIUrl":"https://doi.org/10.22201/fm.24484865e.2023.66.5.01","url":null,"abstract":"The miracle of life is a topic that has been approached from different perspectives. Although budding human life is complex, perfect in its development program, it may go unnoticed by many. During medical practice there is an opportunity to care for and protect her. The recent knowledge about the early evolutionary stages of embryonic human life is astonishing. However, it is at this vulnerable stage of life that problems arise that can make the difference between life and death. Preeclampsia is a serious complication of pregnancy with deadly consequences for the mother and baby.","PeriodicalId":21295,"journal":{"name":"Revista de la Facultad de Medicina","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136073239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Aspectos inmunológicos de preeclampsia 子痫前期的免疫学方面
Revista de la Facultad de Medicina Pub Date : 2023-09-10 DOI: 10.22201/fm.24484865e.2023.66.5.02
Arturo Cérbulo-Vázquez, Jose Anaya Herrera, Yolanda Flores-Cánovas, Carlos Gabriel Briones-Vega, Berenice Zavala-Barrios, Raúl Carrillo-Esper, Manuel Díaz de León Ponce, Jesús Carlos Briones-Garduño
{"title":"Aspectos inmunológicos de preeclampsia","authors":"Arturo Cérbulo-Vázquez, Jose Anaya Herrera, Yolanda Flores-Cánovas, Carlos Gabriel Briones-Vega, Berenice Zavala-Barrios, Raúl Carrillo-Esper, Manuel Díaz de León Ponce, Jesús Carlos Briones-Garduño","doi":"10.22201/fm.24484865e.2023.66.5.02","DOIUrl":"https://doi.org/10.22201/fm.24484865e.2023.66.5.02","url":null,"abstract":"Preeclampsia is a pathology with high morbidity and mortality worldwide. In this disease, the placenta is an organ of shock where inflammation and the immune response generate the damage that results in the characteristic clinical scenario. The classic triad in preeclampsia is made up of hypertension, edema, and proteinuria, so it is thought that the endothelium must be affected by inflammatory-immunological activity. The immune system acts in the development of pregnancy and does so at different times and regulating physiologically. Both, cellular and humoral components of the innate and acquired response have been studied in patients with preeclampsia and it has been determined that their participation is decisive in the pathophysiology of this disease. The involvement of the immune system in the pathophysiology of preeclampsia reaches a high level of complexity since it interacts with other systems (coagulation, renal, cardiovascular and endocrinological among others) thus favoring the disease. For this reason, treatment must be comprehensive, with a holistic vision of the condition and requires a multidisciplinary team that acts harmoniously to achieve the greatest therapeutic success with the least frequency of sequelae for the mother-fetus or mother-newborn dyads. During pregnancy, the so-called \"immunological tolerance of pregnancy\" develops, in this state of immunological tolerance the B and T cells can recognize specific antigens (for example, the paternal ones) and later activate and generate the immune response, which is why preeclampsia could being considered an autoimmune pathology, where the loss of immunological tolerance would be the cornerstone of pathophysiology, knowing how to limit or regulate this abnormal cell activation could help to propose new therapeutic approaches and thus control this disease.","PeriodicalId":21295,"journal":{"name":"Revista de la Facultad de Medicina","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136073240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Obstrucción intestinal secundario a vólvulo de sigmoides en un paciente joven. Reporte de un caso 一名年轻患者继发性乙状结肠旋流性肠梗阻。报告个案
Revista de la Facultad de Medicina Pub Date : 2023-09-10 DOI: 10.22201/fm.24484865e.2023.66.5.05
Andrés Manuel Aguilar Jaramillo, Ricardo Bautista de la Cruz, José Antonio Bautista Sánchez, Luis Cruz Benítez, Daniel Nazario Cruz, Dafne Thamara Ayala Dávila
{"title":"Obstrucción intestinal secundario a vólvulo de sigmoides en un paciente joven. Reporte de un caso","authors":"Andrés Manuel Aguilar Jaramillo, Ricardo Bautista de la Cruz, José Antonio Bautista Sánchez, Luis Cruz Benítez, Daniel Nazario Cruz, Dafne Thamara Ayala Dávila","doi":"10.22201/fm.24484865e.2023.66.5.05","DOIUrl":"https://doi.org/10.22201/fm.24484865e.2023.66.5.05","url":null,"abstract":"Sigmoid volvulus occurs due to a torsion of the colonic mes¬enteric axis, it has a multifactorial and controversial etiology, and its pathophysiology is not yet clear. Presenting a clinical picture of non-specific onset and later signs and symptoms of intestinal occlusion, its diagnosis is established with computed tomography with a sensitivity and specificity greater than 90%. Management will depend on the clinical condition of the patient. Clinical case: A 29-year-old man with a history of Asperger syndrome. He referred 7 days prior to admission with dif¬fuse cramping pain, associated with abdominal distension and oral intolerance. He went to the hospital for evaluation where a computed tomography was performed with air-fluid levels, torsion of the inferior mesenteric artery with a whirl¬wind appearance. Exploratory laparotomy was performed, finding a dilated and volvulated sigmoid with perforation at the rectosigmoid junction. A sigmoidectomy with colorectal anastomosis was performed. On the fifth day, he presented data of inflammatory response with acute abdomen, enter¬ing exploratory laparotomy finding anastomosis dehiscence, Hartmann procedure was performed. The patient presented septic shock, died 24 hours after surgery. Discussion: The presentation of sigmoid volvulus generally occurs in people older than 70 years, few cases are described in young people and are related to intestinal dysmotility dis¬ease, the patient did not have predisposing factors, the diag¬nosis is established with characteristic images of the disease such as whirlwind image, surgical management is decided by performing resection with colorectal anastomosis. Conclusion: Intestinal occlusion due to sigmoid volvulus is an infrequent pathology in young people and with non-specific symptoms. When faced with a patient presenting evidence of intestinal occlusion, this should be appropriately addressed, especially in patients who have debuted with insidious and persistent symptoms of abdominal pain secondary to intestinal occlusion, whether they are young with or without risk factors.Keywords: Sigmoid volvulus; whirlwind sign; abdominal pain; intestinal obstruction.","PeriodicalId":21295,"journal":{"name":"Revista de la Facultad de Medicina","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136073238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Oclusión Intestinal en paciente Renal Crónico secundario a Bezoar de Telas. Reporte de un Caso Clínico. 继发于牛粪网的慢性肾病患者肠闭塞。临床病例报告。
Revista de la Facultad de Medicina Pub Date : 2023-09-10 DOI: 10.22201/fm.24484865e.2023.66.5.03
Jesús Gerardo Valencia Martínez, Pricila Viridiana Ochoa Arias, Walther Espinoza Anguiano, Ricardo Reynoso González, Mariana Ángeles Santillán, Viridiana Aja Sixto
{"title":"Oclusión Intestinal en paciente Renal Crónico secundario a Bezoar de Telas. Reporte de un Caso Clínico.","authors":"Jesús Gerardo Valencia Martínez, Pricila Viridiana Ochoa Arias, Walther Espinoza Anguiano, Ricardo Reynoso González, Mariana Ángeles Santillán, Viridiana Aja Sixto","doi":"10.22201/fm.24484865e.2023.66.5.03","DOIUrl":"https://doi.org/10.22201/fm.24484865e.2023.66.5.03","url":null,"abstract":"The “bezoar” are conglomerates of inedible materials ingest¬ed voluntarily or involuntarily, which are not digested and are unable to pass through the intestinal tract. They mainly affect young women or adolescents who present the phenomenon called “pica”, despite the fact that a high prevalence of this phenomenon of “pica” has been registered in patients with chronic kidney disease, it has been little studied. Clinical case: A 35-year-old male with CKD KDIGO-5 under¬going peritoneal dialysis treatment, which was found to have a transoperative “plastic bezoar” (laparotomy for intestinal occlusion) 10 cm from the ileocecal valve. The patient died due to complications of his pathology. Discussion: the clinical case raises the need to search for behaviors such as pica in patients with CKD, as well as to develop the suspicion to the surgeon, since patients generally hide or ignore reporting foreign material phagia. Keywords: Plastic Bezoar, Intestinal Occlusion, Chronic Kidney Disease, pica, dialysis","PeriodicalId":21295,"journal":{"name":"Revista de la Facultad de Medicina","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136073234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Destete fallido de la ventilación mecánica. Algunas consideraciones 机械通风断奶失败。一些注意事项
Revista de la Facultad de Medicina Pub Date : 2023-08-31 DOI: 10.15446/revfacmed.v70n4.110581
Agamenon Quintero-Villarreal
{"title":"Destete fallido de la ventilación mecánica. Algunas consideraciones","authors":"Agamenon Quintero-Villarreal","doi":"10.15446/revfacmed.v70n4.110581","DOIUrl":"https://doi.org/10.15446/revfacmed.v70n4.110581","url":null,"abstract":"La tecnología ha puesto al alcance de los profesionales médicos equipos de ventilación mecánica y monitoreo más sofisticados para el mantenimiento de la función respiratoria. Por lo tanto, cada día existen más opciones para tratar a los pacientes que ingresan a las unidades de cuidado intensivo (UCI) y requieren asistencia mecánica ventilatoria invasiva, sobre todo aquellos con sepsis grave y choque séptico.","PeriodicalId":21295,"journal":{"name":"Revista de la Facultad de Medicina","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136033778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effect of physical exercise on heart rate variability in adults with overweight or obesity: A systematic review and meta-analysis 体育锻炼对超重或肥胖成人心率变异性的影响:系统回顾和荟萃分析
Revista de la Facultad de Medicina Pub Date : 2023-08-24 DOI: 10.15446/revfacmed.v71n4.107632
Lubin Betancur-Sepulveda, Jhon Freddy Ramírez-Villada, Carlos Mario Arango-Paternina
{"title":"Effect of physical exercise on heart rate variability in adults with overweight or obesity: A systematic review and meta-analysis","authors":"Lubin Betancur-Sepulveda, Jhon Freddy Ramírez-Villada, Carlos Mario Arango-Paternina","doi":"10.15446/revfacmed.v71n4.107632","DOIUrl":"https://doi.org/10.15446/revfacmed.v71n4.107632","url":null,"abstract":"Introduction: Cardiac autonomic dysfunction is a cardiovascular risk factor associated with various health conditions, mainly in overweight and obese individuals. In this regard, heart rate variability (HRV) is one of the tools that allow the evaluation of the activity of the autonomic nervous system (ANS), facilitating the physiological characterization and diagnosis of any individual. Objective: To determine the effect of physical exercise on heart rate variability (HRV) in adults (>18 years old) with overweight or obesity. Materials and methods: Systematic review. Cochrane, Medline, Embase, Lilacs, and PEDro databases were systematically searched using the following search strategy: types of study: randomized controlled trials (RCTs) assessing the effect of exercise-based interventions on HRV parameters in adults with overweight or obesity; publication period: January 2015 to June 2021; Language: English; search terms: MeSH terms combined with Boolean operators “AND” and “OR”. The review protocol was registered in PROSPERO (code: CRD42021224027). The risk of bias was assessed using the Cochrane risk of bias assessment tool. A random-effects meta-analysis was performed to estimate the pooled effect for each outcome variable (HRV parameter) when the pooling of data was possible. Subgroup analyses were also performed to make comparisons between the different interventions. A significance level of p<0.05 was considered. Results: The initial searches yielded 2650 studies; of these,only 10 RCTs met the inclusion criteria. There were no statistically significant differences between the intervention and control groups in terms of changes in the HRV parameters: standard deviation of normal-to-normal R-R (NNN) intervals (SDNN): weighted mean difference (WMD)=1.30, 95%CI:-5.93-8.53, p-value=0.72); root mean square of successive RR intervals differences (RMSSD): (WMD=0.79, 95%CI:-0.29-1.87, p-value=0.15); high frequency (HF): (WMD=6.67, 95%CI:1.71-11.63, p-value=0.008), and low frequency (LF): (WMD=-0.32, 95%CI:-0.73-0.10, p-value=0.13). Conclusions: Physical exercise did not affect any of the HRV parameters studied in adults with overweight or obesity.","PeriodicalId":21295,"journal":{"name":"Revista de la Facultad de Medicina","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135472486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Preferencia sobre métodos tradicionales y/o modernos en la enseñanza de anatomía 对传统和/或现代解剖学教学方法的偏好
Revista de la Facultad de Medicina Pub Date : 2023-07-28 DOI: 10.37345/23045329.v1i34.83
Diego Alejandro Morales Marroquín, Favio Adrián Reyna Carrera
{"title":"Preferencia sobre métodos tradicionales y/o modernos en la enseñanza de anatomía","authors":"Diego Alejandro Morales Marroquín, Favio Adrián Reyna Carrera","doi":"10.37345/23045329.v1i34.83","DOIUrl":"https://doi.org/10.37345/23045329.v1i34.83","url":null,"abstract":"La anatomía es una de las ciencias más críticas en medicina, ya que posee una importancia clave en la formación clínica de un médico. A través del tiempo los métodos de aprendizaje han variado y gracias a los avances tecnológicos, la anatomía guiada por realidad virtual ha emergido como un método de aprendizaje novedoso e interactivo con los estudiantes de medicina. El objetivo del presente estudio fue identificar el método de aprendizaje de anatomía preferido por estudiantes de tercer año de la Facultad de Medicina de la Universidad Francisco Marroquín, para lo cual se realizó un estudio descriptivo transversal, en 36 estudiantes en el período de septiembre del 2022. Los resultados demostraron que la inmersión con el uso de anatomía guiada por realidad virtual aumenta el interés por el curso, facilita y mejora la comprensión del contenido educativo y produce una mayor participación en clase. En conclusión, los estudiantes mostraron una mayor preferencia por el método de aprendizaje de anatomía guiada por realidad virtual en contraste con los métodos tradicionales de enseñanza (libros, imágenes 2D, etc.).","PeriodicalId":21295,"journal":{"name":"Revista de la Facultad de Medicina","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72843831","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Descripción Clínica de los Pacientes Pediátricos Oncológicos con Neutropenia Febril Ingresados a la Unidad de Cuidados Intensivos de la Unidad Nacional de Oncología Pediátrica 本研究的目的是评估在美国儿科肿瘤科住院的发热性中性粒细胞减少症儿童肿瘤患者的临床特征。
Revista de la Facultad de Medicina Pub Date : 2023-07-28 DOI: 10.37345/23045329.v1i34.84
Gabriela Marina Gavidia Mayora, Amanda Lucía Armendáriz Ortíz, Ricardo Alfredo Mack Rivas
{"title":"Descripción Clínica de los Pacientes Pediátricos Oncológicos con Neutropenia Febril Ingresados a la Unidad de Cuidados Intensivos de la Unidad Nacional de Oncología Pediátrica","authors":"Gabriela Marina Gavidia Mayora, Amanda Lucía Armendáriz Ortíz, Ricardo Alfredo Mack Rivas","doi":"10.37345/23045329.v1i34.84","DOIUrl":"https://doi.org/10.37345/23045329.v1i34.84","url":null,"abstract":"Objetivo: Describir las características clínicas de los pacientes pediátricos oncológicos que fueron diagnosticados con Neutropenia Febril (NF) ingresados por primera vez a la Unidad de Cuidados Intensivos (UCI) de la Unidad Nacional de Oncología Pediátrica (UNOP). Métodos:  Estudio descriptivo y retrospectivo, se caracteriza un total de 211 pacientes que desarrollaron NF y requirieron ingreso a la UCI, entre los años 2017 a 2021. Resultados: La edad promedio fue de 8 años, 46% fueron hombres y 54% mujeres. Se presentó neutropenia severa en el 72.77% de los casos y la leucemia (81.99%) fue el diagnóstico oncológico destacado. Dentro de todos los tratamientos, el 38.39% de los pacientes se encontraban en fase de inducción. En un 33.18% se logró identificar un agente infeccioso asociado. Las bacterias de tipo Gram-negativo fueron el agente infeccioso causal más frecuente (13.74%). La media del tiempo de estancia en UCI fue de 6.75 ± 5.79 días. Un 91.62% de pacientes no ameritaron ventilación mecánica y la complicación más frecuentemente asociada a NF fue Sepsis en un 65.88% de los casos. Conclusión: La mayoría de los casos de Neutropenia Febril son severos, las neoplasias hematológicas (LLA y LMA) son la enfermedad de base más frecuente para el desarrollo de NF y las bacterias de tipo Gram-negativo son el agente infeccioso más frecuente. La mayoría de los pacientes no ameritan ventilación mecánica y las complicaciones más frecuentemente asociadas son Sepsis y Neumonía.","PeriodicalId":21295,"journal":{"name":"Revista de la Facultad de Medicina","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77205613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Obesidad : Un breve repaso a su tratamiento 肥胖:对其治疗的简要回顾
Revista de la Facultad de Medicina Pub Date : 2023-07-28 DOI: 10.37345/23045329.v1i34.96
Jorge Tulio Rodríguez
{"title":"Obesidad : Un breve repaso a su tratamiento","authors":"Jorge Tulio Rodríguez","doi":"10.37345/23045329.v1i34.96","DOIUrl":"https://doi.org/10.37345/23045329.v1i34.96","url":null,"abstract":"Controlar el peso excesivo ha sido reconocido como una mejora en la calidad de vida. La obesidad es considerada como una enfermedad en la que hay una respuesta inadecuada del cerebro para evitar la emaciación.  El consumo de calorías en excesodemasía produce acumulación excesiva de grasa corporal. El sobrepeso (no obesidad), se define como IMC de 25.0 a 29.9. Obesidad clase 1 (de bajo riesgo), si el IMC es de 30 a 34.9. Obesidad clase 2 (riesgo moderado), si el IMC es de 35 a 39.9. Obesidad clase 3 (de alto riesgo), si el IMC es igual o mayor a 40.","PeriodicalId":21295,"journal":{"name":"Revista de la Facultad de Medicina","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81798434","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Fibrodisplasia Osificante Progresiva: Reporte de Primer Caso Guatemalteco 进行性骨化纤维发育不良:危地马拉第一例病例报告
Revista de la Facultad de Medicina Pub Date : 2023-07-28 DOI: 10.37345/23045329.v1i34.92
Marcela Elizabeth Orozco Orozco, Anna Yurrita Pocasangre, María Antonieta Sandoval Vargas, Julio Rafael Cabrera Valverde
{"title":"Fibrodisplasia Osificante Progresiva: Reporte de Primer Caso Guatemalteco","authors":"Marcela Elizabeth Orozco Orozco, Anna Yurrita Pocasangre, María Antonieta Sandoval Vargas, Julio Rafael Cabrera Valverde","doi":"10.37345/23045329.v1i34.92","DOIUrl":"https://doi.org/10.37345/23045329.v1i34.92","url":null,"abstract":"La Fibrodisplasia Osificante Progresiva (FOP) es una enfermedad rara, compleja, de herencia autosómica dominante, causada por una mutación heterocigota del gen ACVR1 en el cromosoma 2q24 (OMIM 135100), con una prevalencia de 1 en 2 millones en todo el mundo. Se caracteriza por osificaciones heterotópicas progresivas que involucran músculo esquelético, fascias, tendones y ligamentos. El diagnóstico se basa en la historia clínica y lesiones en los tejidos blandos. Los estudios de imágenes respaldan la identificación de dichas osificaciones. Se confirma mediante el análisis de ADN del gen ACVR1 por medio de secuenciación. Actualmente no existe una terapia definitiva y curativa. El objetivo de este artículo es presentar el caso clínico de una niña de 3 años con el diagnóstico clínico y radiológico de FOP.","PeriodicalId":21295,"journal":{"name":"Revista de la Facultad de Medicina","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73065368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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