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4.
Diseases ; 6(3)2018 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-30049986

RESUMO

Managing the multisystemic symptoms of type I Gaucher Disease (GD) requires a multidisciplinary team approach that includes disease-specific treatments, as well as supportive care. This involves a range of medical specialists, general practitioners, supportive care providers, and patients. Phenotype classification and the setting of treatment goals are important for optimizing the management of type I GD, and for providing personalized care. The ability to classify disease severity using validated measurement tools allows the standardization of patient monitoring, and the measurement of disease progression and treatment response. Defining treatment goals is useful to provide a benchmark for assessing treatment response and managing the expectations of patients and their families. Although treatment goals will vary depending on disease severity, they include the stabilization, improvement or reversal (if possible) of clinical manifestations. Enzyme replacement therapy (ERT) is the standard care for patients with type I GD, but a novel substrate reduction therapy (SRT), Eliglustat, has demonstrated safety and efficacy in selected patients. To ensure that treatment goals are being achieved, regular and comprehensive follow up are necessary.

5.
Rev. neurol. (Ed. impr.) ; 64(4): 162-168, 16 feb., 2017. tab
Artigo em Espanhol | IBECS | ID: ibc-160507

RESUMO

Introducción. El glioblastoma multiforme es el tumor maligno más frecuente del sistema nervioso central, y su incidencia es del 80% en los mayores de 50 años. En los últimos tiempos se ha producido un aumento en la esperanza de vida de la población, y el análisis de las complicaciones posquirúrgicas en pacientes de edad avanzada resulta de gran relevancia para una correcta indicación quirúrgica. Objetivo. Analizar factores relacionados con las complicaciones posquirúrgicas en pacientes de edad avanzada. Pacientes y métodos. Se analizan retrospectivamente 88 pacientes diagnosticados de glioblastoma multiforme entre 31 y 78 años. Las variables estudiadas son: antecedentes personales, edad, estado funcional, estado preanestésico, características tumorales, tipo de cirugía y complicaciones posquirúrgicas. Resultados. Se observa una influencia de la edad en las complicaciones quirúrgicas locales (p = 0,006) y sistémicas (p = 0,034) y en la escala de Clavien-Dindo (p = 0,001). Las personas con peor estado funcional y riesgo cardiovascular presentaron más complicaciones sistémicas (p = 0,006 y 0,044) y peor graduación en dicha escala (p = 0,024 y 0,025). Asimismo, hallamos más complicaciones locales en las cirugías de exéresis que en las biopsias (p = 0,027). El estado preanestésico y los tratamientos antihemostáticos no se relacionaron con dichos eventos. Conclusiones. Los pacientes mayores de 65 años presentan una mayor incidencia de antecedentes patológicos y peor estado funcional prequirúrgico. La edad, el riesgo cardiovascular, el estado funcional y el tipo de cirugía han aumentado de manera significativa las complicaciones posquirúrgicas (AU)


Introduction. Glioblastoma multiforme is the most frequent malignant tumour of the central nervous system, and its incidence reaches 80% in those over 50 years of age. Life expectancy has increased in the population in recent times and an analysis of the post-surgical complications affecting elderly patients is of great importance for a correct surgical indication. Aims. To analyse the factors related with post-surgical complications in elderly patients. Patients and methods. A sample of 88 patients diagnosed with glioblastoma multiforme between 31 and 78 years of age was analysed retrospectively. The variables taken into consideration in the study were: personal medical history, age, functional status, pre-anaesthetic status, tumour characteristics, type of surgery and post-surgical complications. Results. Age was observed to have an influence on local (p = 0.006) and systemic surgical complications (p = 0.034), and on the Clavien-Dindo scale (p = 0.001). Persons with a poorer functional status and cardiovascular risk presented more systemic complications (p = 0.006 and 0.044) and a lower score on the Clavien-Dindo scale (p = 0.024 and 0.025) respectively. Likewise, more local complications are found in the case of excisional procedures than in biopsies (p = 0.027). The pre-anaesthetic status and anti-haemostatic treatments were not related with such events. Conclusions. Patients over 65 years of age present a higher incidence of pathological antecedents and a poorer presurgical functional status. Age, cardiovascular risk, functional status and the type of surgical procedure have significantly increased the occurrence of post-surgical complications (AU)


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Glioblastoma/complicações , Glioblastoma/epidemiologia , Glioblastoma/cirurgia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/cirurgia , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/cirurgia , Fatores de Risco , Estudos Retrospectivos , Estudos Longitudinais
8.
Reumatol. clín. (Barc.) ; 6(5): 262-263, sept.-oct. 2010. ilus
Artigo em Espanhol | IBECS | ID: ibc-82047

RESUMO

La poliangeítis microscópica es una vasculitis sistémica que afecta a pequeños vasos, con afectación renal y pulmonar. A continuación se presenta el caso clínico de un paciente con manifestación atípica de esta enfermedad, que debutó con afectación del sistema nervioso central, en forma de déficit motor (AU)


Microscopic polyangiitis is a systemic vasculitis that affects small caliber vessels, with renal and lung compromise. We present the case of a patient with an atypical presentation of this disease and an onset characterized by central nervous system affection in the form of a motor deficit (AU)


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Vasculite/complicações , Vasculite/diagnóstico , Vasculite/terapia , Vasculite do Sistema Nervoso Central/complicações , Vasculite do Sistema Nervoso Central/diagnóstico , Neutrófilos/patologia , Neutrófilos , Poliarterite Nodosa/complicações , Poliarterite Nodosa , Vasculite , Vasculite do Sistema Nervoso Central , Imageamento por Ressonância Magnética , Prednisona/análise
9.
Reumatol Clin ; 6(5): 262-3, 2010.
Artigo em Espanhol | MEDLINE | ID: mdl-21794727

RESUMO

Microscopic polyangiitis is a systemic vasculitis that affects small caliber vessels, with renal and lung compromise. We present the case of a patient with an atypical presentation of this disease and an onset characterized by central nervous system affection in the form of a motor deficit.

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