RESUMEN
Rhabdoid meningioma is an aggressive phenotype of meningioma, associated with a poor prognosis. We present a very rare case of high-grade meningioma with rhabdoid features that eventually expressed in a coma state. Comprehensive genomic profiling using a Next Generation Sequencing (NGS) assay revealed three genomic alterations: activating BRAF mutation (V600E), loss of CDKN2A/2B, and APC I1307K. After treatment with BRAF inhibitor (dabrafenib), the child's clinical condition improved progressively. After seven months, an MEK inhibitor was added (trametinib).
Asunto(s)
Antineoplásicos/uso terapéutico , Neoplasias Meníngeas/genética , Meningioma/genética , Mutación/genética , Proteínas Proto-Oncogénicas B-raf/genética , Tumor Rabdoide/genética , Proteína de la Poliposis Adenomatosa del Colon/genética , Niño , Inhibidor p15 de las Quinasas Dependientes de la Ciclina/genética , Inhibidor p16 de la Quinasa Dependiente de Ciclina/genética , Femenino , Perfilación de la Expresión Génica , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Imidazoles/uso terapéutico , Imagen por Resonancia Magnética , Neoplasias Meníngeas/tratamiento farmacológico , Meningioma/tratamiento farmacológico , Oximas/uso terapéutico , Medicina de Precisión , Proteínas Proto-Oncogénicas B-raf/antagonistas & inhibidores , Piridonas/uso terapéutico , Pirimidinonas/uso terapéutico , Tumor Rabdoide/tratamiento farmacológicoRESUMEN
BACKGROUND: Postural hypotension induced by transition from supine to sitting position and measures for its prevention in heart failure has not been investigated. OBJECTIVE: Our purpose was to evaluate the prevalence of postural hypotension and associated clinical manifestations as well as the contribution of various risk factors for postural hypotension on transition from lying to sitting in older patients with decompensated heart failure, and to study the eventual preventive effect of leg bandaging. METHODS: Seating-induced postural hypotension (>or=20 mm Hg systolic and/or >or=10 mm Hg diastolic blood pressure fall) was assessed on the first study day in 108 patients aged >or=60 years, hospitalized for acutely decompensated heart failure. On the next day, in patients manifesting postural hypotension, compression bandages were applied along both legs before seating. Blood pressure, heart rate, O(2) saturation, and the occurrence of dizziness or palpitations were recorded prior to and 1, 3 and 5 min following seating. RESULTS: Postural hypotension occurred in 49.1% of patients. Dizziness and/or palpitations manifested in 25%. Diastolic (36.1%) versus systolic (23.1%) postural hypotension prevailed (p=0.05). On univariate analysis, postural hypotension was associated with female sex (p=0.03), more severe heart failure (p=0.05), longer bedrest (p=0.04), higher supine systolic (p=0.01) or diastolic (p=0.002) blood pressure, nonischemic heart failure (p=0.002), and not using nitrates (p = 0.01). On multivariate analysis, longer bedrest (OR=1.58, 95% CI=1.13-2.2, p<0.001), higher supine diastolic blood pressure (OR=1.33, 95% CI=1.1-1.61, p=0.001), and nonischemic heart failure (OR=3.48, 95% CI=1.4-8.63, p=0.009) were the most predictive of postural hypotension. Compression bandages prevented postural hypotension in 21 of 49 patients and decreased the degree of postural blood pressure fall (p<0.001). CONCLUSION: Seating-induced postural hypotension is common among older inpatients with decompensated heart failure, especially with longer bedrest, higher supine diastolic blood pressure and non-ischemic etiology. Leg compression bandaging may be useful for the prevention of postural hypotension in these patients.
Asunto(s)
Insuficiencia Cardíaca/complicaciones , Hipotensión Ortostática/etiología , Hipotensión Ortostática/prevención & control , Medias de Compresión , Enfermedad Aguda , Anciano , Anciano de 80 o más Años , Presión Sanguínea , Femenino , Insuficiencia Cardíaca/fisiopatología , Frecuencia Cardíaca , Humanos , Hipotensión Ortostática/fisiopatología , Masculino , Persona de Mediana Edad , PosturaRESUMEN
The authors describe a 46-year-old man with isolated splenic vein thrombosis (SVT) that developed after concrete drilling, which caused significant compression and vibration of the abdominal wall. Methyltetrahydrofolate reductase (MTHFR) deficiency-related hyperhomocysteinemia, which was subsequently diagnosed, predisposed him to this event. To the best of the knowledge of authors, this is the first report of isolated splenic vein thrombosis caused by compression and vibration of the abdomen. Relevant aspects of isolated post-traumatic splenic vein thrombosis in this context are discussed.
