RESUMEN
Leukoencephalopathies encompass all clinical syndromes that predominantly affect brain white matter. Genetic diagnosis informs clinical management of these patients, but a large part of the genetic contribution to adult leukoencephalopathy remains unresolved. To examine this genetic contribution, we analyzed genomic DNA from 60 Japanese patients with adult leukoencephalopathy of unknown cause by next generation sequencing using a custom-designed gene panel. We selected 55 leukoencephalopathy-related genes for the gene panel. We identified pathogenic mutations in 8 of the 60 adult leukoencephalopathy patients (13.3%): NOTCH3 mutations were detected in 5 patients, and EIF2B2, CSF1R, and POLR3A mutations were found independently in 1 patient each. These results indicate that cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) caused by NOTCH3 mutations is the most frequent adult leukoencephalopathy in our cohort. Moreover, brain imaging analysis indicates that CADASIL patients who do not present typical phenotypes may be underdiagnosed if not examined genetically.
Asunto(s)
CADASIL/genética , Predisposición Genética a la Enfermedad , Leucoencefalopatías/genética , Receptor Notch3/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , CADASIL/diagnóstico por imagen , CADASIL/fisiopatología , Estudios de Cohortes , Factor 2B Eucariótico de Iniciación/genética , Pruebas Genéticas , Humanos , Leucoencefalopatías/diagnóstico por imagen , Leucoencefalopatías/fisiopatología , Imagen por Resonancia Magnética , Persona de Mediana Edad , Mutación , Fenotipo , ARN Polimerasa III/genética , Receptores de Factor Estimulante de Colonias de Granulocitos y Macrófagos/genética , Secuenciación del ExomaAsunto(s)
Neuropatía Hereditaria Motora y Sensorial/genética , Atrofia Muscular Espinal/genética , Simportadores/genética , Femenino , Neuropatía Hereditaria Motora y Sensorial/fisiopatología , Humanos , Japón , Mutación con Pérdida de Función/genética , Masculino , Persona de Mediana Edad , Atrofia Muscular Espinal/fisiopatología , Linaje , GalesRESUMEN
The chemical yield and accuracy of measurements of (241)Am at low levels in marine environmental matrices have been substantially improved by applying the extraction procedure with DDCP (dibutyl-N,N-diethylcarbamylphosphonate). The improved procedure is described, and its advantages over the conventional procedure are discussed.
RESUMEN
A method is presented for the determination of americium and curium isotopes in environmental samples, an ion-exchange clean-up procedure being used.
RESUMEN
A method is proposed for measuring simultaneously several actinide elements by alpha-spectrometry. The actinides in sample solutions are sorbed together on an anion-exchange column from a nitric acid-methanol mixture. After simultaneous elution and electroplating on a disc, the actinides are determined by alpha-spectrometry. Radiochemical yields of the procedure for Th, U, Np, Pu, Am and Cm are better than 50%, all falling within a range of +/- 5%. Examples of the application of this method to various marine environmental samples such as sea-water, seaweed and marine sediment are presented.
RESUMEN
A method is presented for separating low levels of americium from large environmental samples ( $ 200 l. of sea-water, $ 100 g of sediment, 500 g of biological material, etc.) by applying an anion-exchange process in methanolic acid medium.
RESUMEN
We report a case of mediastinal esophago-bronchogenic cyst in a patient with a high serum level of CA 19-9. A 49-year-old man presented with a complaint of dysphagia. Chest X-ray, CT, and MRI showed posterior mediastinal cystic shadow which was diagnosed preoperatively. The serum level of CA 19-9 was 158 U/ml. We underwent extirpation of the cyst through video-assisted thoracoscopic surgery (VATS) and confirmed to be a bronchogenic cyst histologically. The serum level of CA 19-9 returned to normal after the operation.
Asunto(s)
Quiste Broncogénico/inmunología , Antígeno CA-19-9/sangre , Quiste Mediastínico/inmunología , Cirugía Torácica Asistida por Video , Quiste Broncogénico/cirugía , Humanos , Masculino , Quiste Mediastínico/cirugía , Persona de Mediana EdadRESUMEN
Effects of 2-nicotinamidoethyl nitrate (SG-75) on cardiovascular system were investigated using whole animals and isolated vascular smooth muscles of dogs and rabbits. In dogs in vivo SG-75 i.v. produced dose-dependent falls in systemic blood pressure (SBP) concomitant with increases in heart rate (HR). Hypotension by SG-75 was not affected by propranolol and atropine but slightly inhibited by diphenhydramine. Norepinephrine (NE) dose-dependently increased SBP, and SG-75 could not affect these effects of NE. In dog coronary arterial strips contracted with potassium, SG-75 produced a dose-dependent relaxation of these strips. These effects of SG-75 were not affected by propranolol and atropine, but slightly inhibited by diphenhydramine. NE dose-dependently increased the tension of helical strips prepared from rabbit femoral artery, rabbit aorta and dog coronary artery. But SG-75 could not alter these effects of NE. The results suggest that SG-75 may have not an adrenergic beta-receptor stimulating action, a muscarinic action and an adrenergic alpha-receptor blocking action, but an inconsiderable histamine-like action. Probably, a main action of SG-75 may be a nitroglycerin-like action.
Asunto(s)
Hemodinámica/efectos de los fármacos , Niacinamida/análogos & derivados , Vasodilatadores , Animales , Presión Sanguínea/efectos de los fármacos , Perros , Interacciones Farmacológicas , Frecuencia Cardíaca/efectos de los fármacos , Técnicas In Vitro , Músculo Liso/efectos de los fármacos , Contracción Miocárdica/efectos de los fármacos , Niacinamida/farmacología , Nitratos/farmacología , Norepinefrina/farmacología , Factores de TiempoRESUMEN
Effects of 7-diethylamino-5-methyl-s-triazolo [1,5-a]pyrimidine (trapidil, Rocornal) on dog coronary arteries were investigated in vitro. Trapidil produced dose-dependent relaxations of isolated arteries which were contracted with potassium or prostaglandins F2 alpha. These effects of trapidil were not affected by atropine and propranolol. 5-Hydroxytryptamine (5-HT) and phenylephrine dose-dependently increased the tension of isolated coronary arteries. Trapidil could inhibit these effects of 5-HT or phenylephrine. The results indicate that trapidil has not a muscarinic action and an adrenergic beta-receptor stimulating action, but it has a 5-HT receptor and an adrenergic alpha-receptor blocking action.