RESUMO
The 15-year-old male patient presented several 2-6 mm large livid reddish-yellowish, shiny, compact papules on the head, trunk and extremities, which had developed within the last 4 months. Histology showed normal epidermis with dense dermal infiltrate of histiocytes accompanied by few eosinophils, Touton or foamy giant cells. The histiocytes were S100 positive, CD1a negative and did not contain Birbeck granules ultrastructurally. Chest X ray, EEG, skull MRI did not show pathology. Opthalmology, neurology, oto-rhino-laryngology did not reveal alterations. Based upon the clinical symptoms and the histopathology, the diagnosis of indeterminate cell histiocytosis was confirmed. Cryotherapy and cauterization did not stop the progression of the disease, however, under thalidomide treatment no new symptoms developed and the lesions healed with pigmentation.
Assuntos
Histiocitose/tratamento farmacológico , Imunossupressores/uso terapêutico , Dermatopatias/tratamento farmacológico , Talidomida/uso terapêutico , Adolescente , Histiocitose/patologia , Humanos , Masculino , Dermatopatias/patologia , Resultado do TratamentoRESUMO
Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body. The disease is progressive and the first symptoms usually present in childhood. Consequences of the disease are disability and premature death. The disease in females could be as severe as in males although women may be asymptomatic. The possibility of enzyme replacement therapy has made it necessary to elaborate a comprehensive guideline for the diagnosis and treatment follow-up. The guideline has been summarized by a Hungarian multi-disciplinary working group consisting of physicians who are involved in diagnosis and care of Fabry patients. Previous clinical studies, published articles, and recently established international treatment guidelines were reviewed by the group.
Assuntos
Doença de Fabry , alfa-Galactosidase/uso terapêutico , Ensaios Clínicos como Assunto , Terapia de Reposição de Enzimas , Doença de Fabry/complicações , Doença de Fabry/diagnóstico , Doença de Fabry/tratamento farmacológico , Doença de Fabry/enzimologia , Doença de Fabry/fisiopatologia , Feminino , Heterozigoto , Humanos , Masculino , Resultado do Tratamento , alfa-Galactosidase/genéticaRESUMO
Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body. The disease is progressive, first symptoms usually present in childhood. Consequencies of the diseases are disability and premature death. The disease in females could be as severe as in males although women may also be asymptomatic. The possibility of enzyme replacement therapy has made it necessary to elaborate a comprehensive guideline for the diagnosis and treatment follow-up. The guideline was established by a Hungarian multi-disciplinary working group, consisting of physicians who are involved in health care of Fabry patients. Previous clinical studies, published materials, and recently established international treatment guidelines were reviewed by the group.
Assuntos
Doença de Fabry/diagnóstico , alfa-Galactosidase/administração & dosagem , alfa-Galactosidase/metabolismo , Sistema Cardiovascular/metabolismo , Sistema Cardiovascular/patologia , Cromatografia Líquida de Alta Pressão , Diagnóstico Diferencial , Doença de Fabry/complicações , Doença de Fabry/tratamento farmacológico , Doença de Fabry/enzimologia , Doença de Fabry/genética , Feminino , Trato Gastrointestinal , Humanos , Rim/metabolismo , Rim/patologia , Pulmão/fisiopatologia , Masculino , Espectrometria de Massas , Sistema Nervoso/metabolismo , Sistema Nervoso/patologia , Pele/metabolismo , Pele/patologia , Triexosilceramidas/sangue , Triexosilceramidas/metabolismo , Visão Ocular , alfa-Galactosidase/sangue , alfa-Galactosidase/genéticaRESUMO
ATP-Binding Cassette (ABC) transporters are highly expressed in pharmacological barriers limiting the access of drugs to their targets. Since characterization of a compound as a transporter substrate or inhibitor bears significant consequences in drug development, there is a great need for reliable tools that enable the rapid analysis of the transport susceptibility of drugs. Here we describe a simple but very efficient high-performance liquid chromatography/mass spectrometry (HPLC/MS) assay for measuring the ABC transporter-dependent vesicular transport of compounds. In addition, we provide evidence that the requirement for sample preparation can be minimized using desorption electrospray ionization (DESI)-MS, paving the way for a direct, high-throughput investigation of drug-transporter interactions.