ABSTRACT
Introducción: Los leiomiomas uterinos son un tipo de neoplasia benigna de frecuente aparición en mujeres de edad reproductiva, relacionados con enfermedad tromboem- bólica venosa. Este vínculo surge del efecto producido por la compresión de fibromas que genera estasis venosa en la región pelviana. Sin embargo, este pareciera no ser el único factor que lo relaciona con el desarrollo posterior de hipertensión pulmonar, sino que su presencia es gatillo de una serie de fenómenos que influyen sobre la vasculatu - ra pulmonar y también a nivel sistémico. Método: Revisión de una serie de casos (seis) atendidos en nuestra unidad, seguido de una revisión sobre la relación entre leiomio- mas y distintas formas de hipertensión pulmonar con una revisión desde la fisiopatología. Resultado y conclusiones: Encontramos sustento bibliográfico en los múltiples caminos fisiopatológicos que relacionan los mediadores vasculares comunes, que parecieran ser el punto clave en la relación entre estas dos patologías.
Introduction: Uterine leiomyomas are a type of benign neoplasm that frequently appears in women of reproductive age, related to venous thromboembolic disease. This link arises from the effect produced by the compression of fibroids, which generates venous stasis in the pelvic region. However, this seems not to be the only factor that re- lates it to the subsequent development of pulmonary hypertension, but rather its presence is a trigger for a series of phenomena that influence the pulmonary vasculature and also at a systemic level. Method: Review of a series of cases (six) cared for in our unit, followed by a review on the relationship between leiomyomas and different forms of pulmonary hypertension with a review from the pathophysiology. Result and conclusions: We found bibliographic support in the multiple pathophysiological paths that relate the common vascular mediators, which appear to be the key point in the relationship between these two pathologies.
Subject(s)
Humans , Female , Adult , Middle Aged , Uterine Neoplasms/physiopathology , Venous Thromboembolism/physiopathology , Hypertension, Pulmonary/physiopathology , Leiomyoma/physiopathology , Echocardiography , Cardiac Catheterization/methods , Biomarkers , Review , Computed Tomography Angiography/methodsABSTRACT
BACKGROUND: Pulmonary arterial hypertension (PAH) guidelines suggest that achieving a low-risk profile should be the treatment goal. Our aim was to assess a risk assessment strategy based on three non-invasive variables from the ESC/ERS 2015 guidelines in a Latin American cohort. METHODS: 92 incident patients (mean [SD] age 47, 77% female, 53% idiopathic PAH) were included in this retrospective, multicenter study. Patients were stratified at baseline and at early follow-up, within the first year, using three non-invasive variables (WHO functional class, 6-minute walking distance, BNP/NT-proBNP) from the ESC/ERS 2015 risk assessment instrument. Median (IQR) follow-up was 3.11 years (3.01 years). RESULTS: At baseline assessment, 25% of patients were at low risk, 61.9% at intermediate-risk, and 13% at high-risk. At early follow-up (median 9.5 months), 56.5% of patients were at low-risk, 40.2% at intermediate-risk, and 3.2% at high-risk (p<0.001 vs. baseline). According to risk stratification at early follow-up, one, three and five-year overall survival was 100% in the low-risk group (no deaths at five-year follow-up), and 100%, 84% (95% CI: 72-98%), and 66% (95% CI: 48-90%) respectively in the intermediate-risk group, p = 0.0003. Mortality in the high-risk patients at early follow-up was 1/3 (33.3%). One, three, and five-year event-free survival (death or transplant or first hospitalization due to worsening PAH) based on early follow-up risk assessment was higher in the low-risk group, p = 0.0003. CONCLUSION: Our study validates a risk assessment strategy based on three non-invasive variables and confirms that early achievement of a low-risk profile should be the treatment goal.
Subject(s)
Hypertension, Pulmonary , Pulmonary Arterial Hypertension , Humans , Female , Middle Aged , Male , Pulmonary Arterial Hypertension/diagnosis , Pulmonary Arterial Hypertension/epidemiology , Pulmonary Arterial Hypertension/therapy , Latin America/epidemiology , Hypertension, Pulmonary/diagnosis , Hypertension, Pulmonary/epidemiology , Hypertension, Pulmonary/therapy , Retrospective Studies , Familial Primary Pulmonary Hypertension , Risk Assessment , PrognosisABSTRACT
Abstract The familial chylomicronemia syndrome (FCS) is characterized by very high levels of circulating triglycerides. FCS is caused by lipoprotein lipase (LPL) deficiency resulting from homozygous or biallelic loss-of-function variants in the LPL or other related genes. Here, we report a case of severe hypertriglyceridemia refractory to conventional therapy in a male patient diagnosed at 33 years of age. LPL activity was below 20%. During the clinical course, the patient developed severe acute pancreatitis in addition to other complications. Two heterozygous variants (c.984G>A and c.1139+6T>C) which had not been previously reported in the major databases were identified in the LPL gene. Treatment with volanesorsen was proposed based on its approved indication as an adjunct to diet in adult patients with confirmed FCS and at high risk for pancreatitis. Volanesorsen was effective and well-tolerated, and the patient did not experience abdominal pain or any other manifestations. The assessment of genetic characterization is essential to guide treatment decisions during follow-up, in addition to the patient's history, their comorbidities and clinical stigmas.
ABSTRACT
Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by extremely high triglyceride levels due to impaired clearance of chylomicrons from plasma. This paper is the result of a panel discussion with Latin American specialists who raised the main issues on diagnosis and management of FCS in their countries. Overall FCS is diagnosed late on the course of the disease, is characterized by heterogeneity on the occurrence of pancreatitis, and remains a long time in care of different specialists until reaching a lipidologist. Pancreatitis and secondary diabetes are frequently seen, often due to late diagnosis and inadequate care. Molecular diagnosis is unusual; however, loss of function variants on the lipoprotein lipase gene are apparently the most frequent etiology. A founder effect of the glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene has been described in the northeast of Brazil. Low awareness of the disease amongst health professionals contributes to inadequate care and an inadequate patient journey.
Subject(s)
Hyperlipoproteinemia Type I/diagnosis , Hyperlipoproteinemia Type I/therapy , Chylomicrons/blood , Diabetes Mellitus/etiology , Female , Glycosylphosphatidylinositols/metabolism , Humans , Hyperlipoproteinemia Type I/blood , Hyperlipoproteinemia Type I/etiology , Latin America , Lipoprotein Lipase/genetics , Loss of Function Mutation , Male , Pancreatitis/etiology , RNA-Binding Proteins/genetics , RNA-Binding Proteins/metabolism , Triglycerides/bloodABSTRACT
La pregunta que motivo la investigación fué ¿Qué opinan los cursantes de la capacitación en Recursos Humanos y Hospitalarios dictada a todo el personal del Hospital de Alta Complejidad El Cruce durante el año 2011? Observamos un alto índice de satisfacción, las sugerencias planteadas son interesantes para reformular y mejorar algunos de los aspectos de la capacitación brindada. Han sido pocos cursantes, en relación al tamaño de la muestra, lo que han sugerido o comentado algún cambio: solo 13/389 sugirieron ampliar el horario, 3/389 la ampliación del material en clases, 16/389 continuar las capacitaciones y 8/389 la modalidad de clase más participativa. Por último, se puede mencionar que el Área de Docencia tiene la responsabilidad y las competencias necesarias para llevar adelante "Una propuesta de mejora". Para la misma se profundizará en cada uno de los aspectos de mejora en función de fortalecer la formación del personal, considerada de vital importancia para la mejora continua en nuestra Institución.
Subject(s)
Health Human Resource Evaluation , Health Human Resource Training , Professional Training , Hospitals, PublicABSTRACT
The 90 patients data have retrospectively been studied for one year in an intensive care unit. The reasons why the bronchoscopies were than, as well as the contraindications of this method, have all been analysed.
Subject(s)
Humans , BronchoscopyABSTRACT
The 90 patients data have retrospectively been studied for one year in an intensive care unit. The reasons why the bronchoscopies were than, as well as the contraindications of this method, have all been analysed. (AU)
