RESUMEN
Cancer therapy-related cardiac dysfunction (CTRCD), which commonly includes left ventricular dysfunction and heart failure, is the main adverse effect of anticancer therapy. In recent years several candidate genes studies and genome-wide association studies have identified common genetic variants associated with CTRCD, but evidence remains limited and few genetic variants are robust. A genome-wide meta-analysis of CTRCD was performed with 852 oncology patients receiving cancer therapy. DNA samples were genotyped and imputed to perform a GWAS meta-analysis for case-control (N = 852 (380 cases and 472 controls) and extreme phenotypes (N = 618 (78 cases and 472 controls) looking for genetic variants that predispose to CTRCD. The results were validated in a replicate cohort of 1,191 oncology patients (245 cases and 946 controls). Functional mapping of the replicated loci was then performed. The meta-analysis showed 9 and 17 loci suggestively associated (P-value < 1 × 10-5) with CTRCD in case-control and extreme phenotypes analyses, respectively. The 3q28 locus (rs rs7652759, P = 5.64 × 10-6) in the case-control analysis was the strongest signal, with up to 64 SNPs above the suggestive significance threshold. The rs7652759, an intergenic variant between TPRG1 and TP63 genes, was the only variant validated in the replication cohort (P-value = 0.01). Functional mapping of this significant locus revealed up to 5 new genes potentially involved in the CTRCD. We identified the intergenic region near TP63 as a novel CTRCD susceptibility locus. In the future, the genotyping of these markers could be considered in new CTRCD risk scores to improve preventive strategies in cardio-oncology.
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Estudio de Asociación del Genoma Completo , Neoplasias , Polimorfismo de Nucleótido Simple , Proteínas Supresoras de Tumor , Humanos , Proteínas Supresoras de Tumor/genética , Neoplasias/genética , Neoplasias/tratamiento farmacológico , Femenino , Masculino , Predisposición Genética a la Enfermedad , Factores de Transcripción/genética , Estudios de Casos y Controles , ADN Intergénico/genética , Persona de Mediana Edad , Anciano , Mapeo CromosómicoRESUMEN
BACKGROUND AND OBJECTIVES: 3D-printed patient-specific instruments (PSIs), also known as 3D guides, have been shown to improve accuracy in resection of pelvic tumors in cadaver studies and achieve better surgical margins in vivo. This study evaluates the clinical impact of 3D-printed guides on medium-term local and distant disease control, as well as disease-free and overall survival in patients. MATERIAL AND METHODS: A cohort study included 25 patients with primary pelvic or sacral sarcomas: 10 in the 3D group and 15 in the control group, with a median follow-up of 47 months. Demographic and clinical data, including tumor histology, stage, resection technique, associated reconstruction, adjuvant therapies, and complications, were evaluated. Surgical margins (free, marginal, and contaminated) and relapse-free and overall survival curves were analyzed. RESULTS: The 3D group achieved a higher rate of free margins (80% vs 66.7%, p = 0.345). Local recurrence (50% vs 60%, P=.244) and distant disease relapse (20% vs 47%, p = 0.132) rates were lower in the 3D group. At the end of the follow-up, the 3D group had a higher overall survival rate (60% vs 40%, p = 0.327). The complication rate was similar in both groups, with a deep infection rate of 40%. CONCLUSIONS: The use of 3D guides in resecting primary pelvic tumors not only achieves a higher rate of free margins compared to conventional techniques but also shows a trend towards higher local, distant, and overall disease-free survival. Further studies with larger sample sizes and higher levels of evidence are necessary to validate these clinical trends.
RESUMEN
Objetivo Describir los pacientes hospitalizados en medicina interna en términos de desnutrición y sarcopenia, en función de la presencia o no de diabetes mellitus tipo 2 (DM2), así como evaluar la mortalidad a corto y largo plazo relacionada con ambas. Métodos Estudio de cohortes, unicéntrico, que recoge pacientes consecutivos ingresados en Medicina Interna en mayo y octubre del 2021. La desnutrición se determinó mediante el Mini Nutritional Assessment-Short Form (MNA-SF) y la sarcopenia mediante SARC-F y dinamometría. Se excluyó a los pacientes hospitalizados más de 48 h. Resultados Se analiza a 511 pacientes, 49,1% varones, edad media de 75,2±15 años, 210 (41,1%) DM2. Se generan 6 grupos (diseño 2 × 3) en función de la presencia de DM2 y del estado nutricional acorde con el resultado del MNA-SF: 12-14 puntos, sin riesgo; MNA-SF 8-12 puntos, alto riesgo; MNA-SF 0-7 puntos, desnutridos. Los pacientes con DM2 y desnutridos tenían significativamente mayor sarcopenia, comorbilidad, inflamación y úlceras por presión. Los principales determinantes de mortalidad intrahospitalaria fueron la sarcopenia (OR 1,27, IC del 95%, 1,06-1,54, p=0,01), la comorbilidad (OR 1,27, IC del 95%, 1,08-1,49, p=0,003) y la inflamación (OR 1,01, IC del 95%, 1,00-1,02, p=0,02). El pronóstico a 120 días fue peor entre los pacientes desnutridos (p=0,042). Conclusión Los pacientes ingresados con DM2 presentan similar grado de desnutrición que el resto, pero con mayor sarcopenia. Esta sarcopenia, junto a la inflamación y la comorbilidad determinan un peor pronóstico. La identificación activa y temprana de la desnutrición y la sarcopenia, y su abordaje posterior podrían mejorar el pronóstico de los pacientes (AU)
Objective To describe patients hospitalized in internal medicine in terms of malnutrition and sarcopenia, depending on the presence or absence of type 2 diabetes mellitus (DM2), as well as to evaluate short- and long-term mortality related to both. Methods Cross-sectional, single-center study, which included consecutive patients admitted to internal medicine in May and October 2021. Malnutrition was determined using the Mini Nutritional Assessment-Short Form (MNA-SF) and sarcopenia using SARC-F and handgrip strength. Patients hospitalized for more than 48h are excluded. Results Five hundred and 11patients were analyzed, 49.1% male, mean age 75.2±15 years, 210 (41.1%) DM2. Six groups (2×3 design) are generated based on the presence of DM2 and the nutritional status according to the result of the MNA-SF: 1214 points, without risk; MNA-SF 812 points, high risk; MNA-SF 07 points, malnourished. Malnourished patients with DM2 had significantly higher sarcopenia, comorbidity, inflammation, and pressure ulcers. The main determinants of in-hospital mortality were sarcopenia (OR 1.27, 95% CI: 1.061.54, p=0.01), comorbidity (OR 1.27, 95% CI: 1.081.49, p=0.003) and inflammation (OR 1.01, 95% CI: 1.001.02, p=0.02). The 120-day prognosis was worse among malnourished patients (p=0.042). Conclusion Patients admitted with DM2 have a similar degree of malnutrition than the rest, but with greater sarcopenia. This sarcopenia, together with inflammation and comorbidity determine a worse prognosis. The active and early identification of malnutrition and sarcopenia and their subsequent approach could improve the prognosis of patients (AU)
Asunto(s)
Humanos , Masculino , Femenino , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Diabetes Mellitus Tipo 2/epidemiología , Desnutrición/epidemiología , Sarcopenia/epidemiología , Hospitalización , Mortalidad Hospitalaria , Estudios Prospectivos , Estudios de Cohortes , Prevalencia , Comorbilidad , PronósticoRESUMEN
OBJECTIVE: To describe patients hospitalized in internal medicine in terms of malnutrition and sarcopenia, depending on the presence or absence of type 2 diabetes mellitus (DM2), as well as to evaluate short- and long-term mortality related to both. METHODS: Cross-sectional, single-center study, which included consecutive patients admitted to internal medicine in May and October 2021. Malnutrition was determined using the Mini Nutritional Assessment-Short Form (MNA-SF) and sarcopenia using SARC-F and handgrip strength. Patients hospitalized for more than 48â¯h are excluded. RESULTS: 511 patients were analyzed, 49.1% male, mean age 75.2 +/- 15 years, 210 (41.1%) DM2. 6 groups (2â¯×â¯3 design) are generated based on the presence of DM2 and the nutritional status according to the result of the MNA-SF: 12-14 points, without risk; MNA-SF 8-12 points, high risk; MNA-SF 0-7 points, malnourished. Malnourished patients with DM2 had significantly higher sarcopenia, comorbidity, inflammation, and pressure ulcers. The main determinants of in-hospital mortality were sarcopenia (OR 1.27, 95%CI 1.06-1.54, pâ¯=â¯0.01), comorbidity (OR 1.27, 95%CI 1,08-1,49, pâ¯=â¯0.003) and inflammation (OR 1.01, 95%CI 1.00-1.02, pâ¯=â¯0.02). The 120-day prognosis was worse among malnourished patients (pâ¯=â¯0.042). CONCLUSION: Patients admitted with DM2 have a similar degree of malnutrition than the rest, but with greater sarcopenia. This sarcopenia, together with inflammation and comorbidity determine a worse prognosis. The active and early identification of malnutrition and sarcopenia and their subsequent approach could improve the prognosis of patients.
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Diabetes Mellitus Tipo 2 , Desnutrición , Sarcopenia , Humanos , Masculino , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Femenino , Sarcopenia/diagnóstico , Fuerza de la Mano , Estudios Transversales , Desnutrición/complicaciones , Pronóstico , Inflamación , Medicina Interna , Evaluación GeriátricaRESUMEN
INTRODUCTION: We propose a protocol for study of complex regional pain syndrome (CRPS) based on a battery of quantitative measures (skin thermography, electrochemical skin conductance and sensory thresholds) and apply such protocol to 5 representative cases of CRPS. PATIENTS AND METHODS: 5 CPRS cases (2 women/3 men) that met the Budapest criteria for the diagnosis of CRPS. RESULTS: All patients showed spontaneous pain and allodynia. Two cases correspond to a stage I, in both the resting basal temperature was increased in the affected limb. Three cases reflect more advanced stages with a decrease in resting temperature and a delay in the recovery of the temperature when compared to contralateral limb. DISCUSSION: These non-invasive quantitative functional tests not only improve the diagnostic accuracy of CRPS but also, they help us to stratify and understand the pathological processes of the disease.
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Síndromes de Dolor Regional Complejo , Termografía , Masculino , Humanos , Femenino , Termografía/métodos , Síndromes de Dolor Regional Complejo/diagnósticoRESUMEN
Introduction: We propose a protocol for study of complex regional pain syndrome (CRPS) basedon a battery of quantitative measures (skin thermography, electrochemical skin conductanceand sensory thresholds) and apply such protocol to 5 representative cases of CRPS.Patients and methods: 5 CPRS cases (2 women/3 men) that met the Budapest criteria for thediagnosis of CRPS. Results: All patients showed spontaneous pain and allodynia. Two cases correspond to a stageI, in both the resting basal temperature was increased in the affected limb. Three cases reflectmore advanced stages with a decrease in resting temperature and a delay in the recovery ofthe temperature when compared to contralateral limb.Discussion: These non-invasive quantitative functional tests not only improve the diagnosticaccuracy of CRPS but also, they help us to stratify and understand the pathological processesof the disease.(AU)
Introducción: Proponemos un protocolo para el estudio del síndrome de dolor regionalcomplejo (SDRC) basado en una batería de medidas cuantitativas (termografía cutánea, con-ductancia electroquímica cutánea y umbrales sensoriales en la prueba sensorial cuantitativa[QST]) y aplicamos dicho protocolo a cinco casos representativos de SDRC. Pacientes y métodos: Se presentan cinco casos de SDRC (dos mujeres/tres hombres) quecumplieron con los criterios de Budapest para el diagnóstico de SDRC. Resultados: Todos los pacientes presentaron dolor espontáneo y alodinia. Dos casos correspon-den a un estadio I, en ambos, la temperatura basal de reposo se incrementó en el miembroafectado. Tres casos muestran estadios más avanzados con disminución de la temperatura dereposo y retraso en la recuperación de la temperatura, en comparación con la extremidadcontralateral, que reflejan fases más avanzadas de la enfermedad. Discusión: Estas pruebas funcionales cuantitativas no invasivas no solo mejoran la precisióndiagnóstica del SDRC sino que también nos ayudan a estratificar las diferentes fases y compren-der los procesos patológicos de la enfermedad.(AU)
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Humanos , Masculino , Femenino , Dimensión del Dolor , Manejo del Dolor , Termografía , Respuesta Galvánica de la Piel , Dolor , NeurologíaRESUMEN
Introducción: Las fracturas por fragilidad (FF) son frecuentes en pacientes osteoporóticos. Existen una serie de factores de riesgo y variables clínicas, que podrían predecir su aparición. Material y método: Se realizó un estudio observacional retrospectivo de casos y controles. Los casos estuvieron definidos por la presencia de una FF (326 participantes) y los controles por pacientes de similares características sin FF (629 participantes). Resultados: Ciertos factores aumentan el riesgo de FF, como un diagnóstico previo de DM tipo 2 (OR: 2,001), las elevaciones de 1ng/mL del CTX (OR: 1,88), tener antecedentes parentales de fractura de cadera (OR: 1,667), el aumento en 5 años en la edad (OR: 1,39) y los incrementos de 1kg/m2 del IMC (OR: 1,041). Por el contrario, otros factores evaluados disminuyen ese riesgo, como mantener unos niveles de 25(OH)D≥30ng/mL (OR: 0,686) y una T-score≥−2,5 (OR: 0,642). Conclusiones: Niveles de 25(OH)D≥30ng/mL y una T-score en el cuello femoral≥−2,5 son factores protectores de las FF, mientras que el diagnóstico previo de DM tipo 2, un CTX elevado, el antecedente parental de fractura de cadera, un incremento de 1kg/m2 del IMC y el aumento de la edad en 5 años serían predisponentes a padecer FF.(AU)
Introduction: Fragility fractures (FF) are frequent in osteoporotic patients. There are a series of risk factors and clinical variables that could predict their appearance. Material and method: A retrospective observational study of cases and controls was carried out. Cases were defined by the presence of FF (326 participants) and controls by patients with similar characteristics without FF (629 participants). Results: Certain factors increase the risk of FF, such as a previous diagnosis of type 2 DM (OR: 2.001), 1ng/mL elevations of CTX (OR: 1.88), having a parental history of hip fracture (OR: 1.667), 5-year increase in age (OR: 1.39), and 1kg/m2 increases in BMI (OR: 1.041). In contrast, other factors evaluated decreased this risk, such as maintaining 25(OH)D levels≥30ng/mL (OR: 0.686) and a T-score≥−2.5 (OR: 0.642). Conclusions: Levels of 25(OH)D≥30ng/mL and a T-score at the femoral neck≥−2.5 are protective factors for FF, while a previous diagnosis of type 2 DM, an elevated CTX, a parental history of hip fracture, an increase of 1kg/m2 in BMI and an increase in age by 5 years would be predisposing to FF.(AU)
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Humanos , Masculino , Femenino , Fragilidad , Fracturas Osteoporóticas , Vitamina D , Factores de Riesgo , Densidad Ósea , Osteoporosis , Estudios de Casos y Controles , Estudios RetrospectivosRESUMEN
Introduction: Fragility fractures (FF) are frequent in osteoporotic patients. There are a series of risk factors and clinical variables that could predict their appearance. Material and method: A retrospective observational study of cases and controls was carried out. Cases were defined by the presence of FF (326 participants) and controls by patients with similar characteristics without FF (629 participants). Results: Certain factors increase the risk of FF, such as a previous diagnosis of type 2 DM (OR: 2.001), 1ng/mL elevations of CTX (OR: 1.88), having a parental history of hip fracture (OR: 1.667), 5-year increase in age (OR: 1.39), and 1kg/m2 increases in BMI (OR: 1.041). In contrast, other factors evaluated decreased this risk, such as maintaining 25(OH)D levels≥30ng/mL (OR: 0.686) and a T-score≥−2.5 (OR: 0.642). Conclusions: Levels of 25(OH)D≥30ng/mL and a T-score at the femoral neck≥−2.5 are protective factors for FF, while a previous diagnosis of type 2 DM, an elevated CTX, a parental history of hip fracture, an increase of 1kg/m2 in BMI and an increase in age by 5 years would be predisposing to FF.(AU)
Introducción: Las fracturas por fragilidad (FF) son frecuentes en pacientes osteoporóticos. Existen una serie de factores de riesgo y variables clínicas, que podrían predecir su aparición. Material y método: Se realizó un estudio observacional retrospectivo de casos y controles. Los casos estuvieron definidos por la presencia de una FF (326 participantes) y los controles por pacientes de similares características sin FF (629 participantes). Resultados: Ciertos factores aumentan el riesgo de FF, como un diagnóstico previo de DM tipo 2 (OR: 2,001), las elevaciones de 1ng/mL del CTX (OR: 1,88), tener antecedentes parentales de fractura de cadera (OR: 1,667), el aumento en 5 años en la edad (OR: 1,39) y los incrementos de 1kg/m2 del IMC (OR: 1,041). Por el contrario, otros factores evaluados disminuyen ese riesgo, como mantener unos niveles de 25(OH)D≥30ng/mL (OR: 0,686) y una T-score≥−2,5 (OR: 0,642). Conclusiones: Niveles de 25(OH)D≥30ng/mL y una T-score en el cuello femoral≥−2,5 son factores protectores de las FF, mientras que el diagnóstico previo de DM tipo 2, un CTX elevado, el antecedente parental de fractura de cadera, un incremento de 1kg/m2 del IMC y el aumento de la edad en 5 años serían predisponentes a padecer FF.(AU)
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Humanos , Masculino , Femenino , Fragilidad , Fracturas Osteoporóticas , Vitamina D , Factores de Riesgo , Densidad Ósea , Osteoporosis , Estudios de Casos y Controles , Estudios RetrospectivosRESUMEN
INTRODUCTION: Fragility fractures (FF) are frequent in osteoporotic patients. There are a series of risk factors and clinical variables that could predict their appearance. MATERIAL AND METHOD: A retrospective observational study of cases and controls was carried out. Cases were defined by the presence of FF (326 participants) and controls by patients with similar characteristics without FF (629 participants). RESULTS: Certain factors increase the risk of FF, such as a previous diagnosis of type 2 DM (OR: 2.001), 1ng/mL elevations of CTX (OR: 1.88), having a parental history of hip fracture (OR: 1.667), 5-year increase in age (OR: 1.39), and 1kg/m2 increases in BMI (OR: 1.041). In contrast, other factors evaluated decreased this risk, such as maintaining 25(OH)D levels≥30ng/mL (OR: 0.686) and a T-score≥-2.5 (OR: 0.642). CONCLUSIONS: Levels of 25(OH)D≥30ng/mL and a T-score at the femoral neck≥-2.5 are protective factors for FF, while a previous diagnosis of type 2 DM, an elevated CTX, a parental history of hip fracture, an increase of 1kg/m2 in BMI and an increase in age by 5 years would be predisposing to FF.
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Fracturas de Cadera , Fracturas Osteoporóticas , Humanos , Densidad Ósea , Estudios de Casos y Controles , Fracturas de Cadera/diagnóstico , Fracturas de Cadera/epidemiología , Fracturas de Cadera/etiología , Fracturas Osteoporóticas/diagnóstico , Fracturas Osteoporóticas/epidemiología , Fracturas Osteoporóticas/etiología , Estudios Retrospectivos , Factores de RiesgoRESUMEN
INTRODUCTION: Fragility fractures (FF) are frequent in osteoporotic patients. There are a series of risk factors and clinical variables that could predict their appearance. MATERIAL AND METHOD: A retrospective observational study of cases and controls was carried out. Cases were defined by the presence of FF (326 participants) and controls by patients with similar characteristics without FF (629 participants). RESULTS: Certain factors increase the risk of FF, such as a previous diagnosis of type 2 DM (OR: 2.001), 1ng/mL elevations of CTX (OR: 1.88), having a parental history of hip fracture (OR: 1.667), 5-year increase in age (OR: 1.39), and 1kg/m2 increases in BMI (OR: 1.041). In contrast, other factors evaluated decreased this risk, such as maintaining 25(OH)D levels≥30ng/mL (OR: 0.686) and a T-score≥-2.5 (OR: 0.642). CONCLUSIONS: Levels of 25(OH)D≥30ng/mL and a T-score at the femoral neck≥-2.5 are protective factors for FF, while a previous diagnosis of type 2 DM, an elevated CTX, a parental history of hip fracture, an increase of 1kg/m2 in BMI and an increase in age by 5 years would be predisposing to FF.
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Fracturas de Cadera , Fracturas Osteoporóticas , Humanos , Preescolar , Estudios de Casos y Controles , Fracturas Osteoporóticas/diagnóstico , Fracturas Osteoporóticas/epidemiología , Fracturas Osteoporóticas/etiología , Densidad Ósea , Fracturas de Cadera/diagnóstico , Fracturas de Cadera/epidemiología , Fracturas de Cadera/etiología , Estudios Retrospectivos , Factores de RiesgoRESUMEN
BACKGROUND: Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is characterized by persistent physical and mental fatigue. The post-COVID-19 condition patients refer physical fatigue and cognitive impairment sequelae. Given the similarity between both conditions, could it be the same pathology with a different precipitating factor? OBJECTIVE: To describe the cognitive impairment, neuropsychiatric symptoms, and general symptomatology in both groups, to find out if it is the same pathology. As well as verify if the affectation of smell is related to cognitive deterioration in patients with post-COVID-19 condition. METHODS: The sample included 42 ME/CFS and 73 post-COVID-19 condition patients. Fatigue, sleep quality, anxiety and depressive symptoms, the frequency and severity of different symptoms, olfactory function and a wide range of cognitive domains were evaluated. RESULTS: Both syndromes are characterized by excessive physical fatigue, sleep problems and myalgia. Sustained attention and processing speed were impaired in 83.3% and 52.4% of ME/CFS patients while in post-COVID-19 condition were impaired in 56.2% and 41.4% of patients, respectively. Statistically significant differences were found in sustained attention and visuospatial ability, being the ME/CFS group who presented the worst performance. Physical problems and mood issues were the main variables correlating with cognitive performance in post-COVID-19 patients, while in ME/CFS it was anxiety symptoms and physical fatigue. CONCLUSIONS: The symptomatology and cognitive patterns were similar in both groups, with greater impairment in ME/CFS. This disease is characterized by greater physical and neuropsychiatric problems compared to post-COVID-19 condition. Likewise, we also propose the relevance of prolonged hyposmia as a possible marker of cognitive deterioration in patients with post-COVID-19.