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1.
Ann Clin Biochem ; 51(Pt 5): 528-42, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24489083

RESUMO

In the last decade, the introduction of the serum-free light-chain (sFLC) assay has been an important advance in the diagnosis and management of plasma cell dyscrasias, particularly monoclonal light-chain diseases. The immunoassay was developed to detect free light chains in serum by using anti-FLC antibodies which specifically recognised epitopes on light chains that were 'hidden' in intact immunoglobulins. Since its introduction in 2001, there have been several publications in the English language literature discussing the clinical utility as well as analytical limitations of the sFLC assay. These studies have highlighted both positive and negative aspects of the assay particularly with regard to its sensitivity and specificity and the technical challenges that can affect its performance. The contribution and significance of the sFLC assay in the management of light-chain myeloma, primary amyloid light-chain (AL) amyloidosis and non-secretory myeloma are well recognised and will be addressed in this review. The aim of this article is to also review the published literature with a view to providing a clear understanding of its utility and limitations in the diagnosis, prognosis and monitoring of plasma dyscrasias including intact immunoglobulin multiple myeloma (MM) and monoclonal gammopathy of unknown significance (MGUS). The increasing interest in using this assay in other haematological conditions will also be briefly discussed.


Assuntos
Amiloidose/sangue , Imunoensaio/métodos , Cadeias Leves de Imunoglobulina/sangue , Paraproteinemias/sangue , Humanos , Amiloidose de Cadeia Leve de Imunoglobulina , Mieloma Múltiplo/sangue , Nefelometria e Turbidimetria/métodos , Paraproteinemias/diagnóstico , Prognóstico , Valores de Referência
2.
Am J Med Genet A ; 161A(2): 338-42, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23322642

RESUMO

Aicardi-Goutières syndrome (AGS) is an encephalopathy of early childhood which is most commonly inherited as an autosomal recessive trait. The disorder demonstrates significant genetic heterogeneity with causative mutations in five genes identified to date. Although most patients with AGS experience a severe neonatal or infantile presentation, poor neurodevelopmental outcome and reduced survival, clinical variability in the onset and severity of the condition is being increasingly recognized. A later presentation with a more variable effect on development, morbidity and mortality has been particularly observed in association with mutations in SAMHD1 and RNASEH2B. In contrast, the recurrent c.205C > T (p.R69W) RNASEH2C Asian founder mutation has previously only been identified in children with a severe AGS phenotype. Here, to our knowledge, we present the first report of marked phenotypic variability in siblings both harboring this founder mutation in the homozygous state. In this family, one female child had a severe AGS phenotype with an onset in infancy and profound developmental delay, whilst an older sister was of completely normal intellect with a normal head circumference and was only diagnosed because of the presence of chilblains and a mild hemiplegia. An appreciation of intrafamilial phenotypic expression is important in the counseling of families considering prenatal diagnosis, and may also be relevant to the assessment of efficacy in future clinical trials. In addition, marked phenotypic variation raises the possibility that more mildly affected patients are not currently identified.


Assuntos
Doenças Autoimunes do Sistema Nervoso/genética , Malformações do Sistema Nervoso/genética , Ribonuclease H/genética , Anormalidades Múltiplas/genética , Encefalopatias/genética , Pérnio/genética , Pré-Escolar , Consanguinidade , Feminino , Efeito Fundador , Hemiplegia/genética , Humanos , Lactente , Fenótipo
3.
Immunol Allergy Clin North Am ; 28(4): 821-32, ix, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18940576

RESUMO

This review of the currently available literature from more than two decades of clinical experience with self-infusions of immunoglobulin at home provides evidence to support the feasibility, safety, and efficacy in all age groups. Self-infusions at home not only increase patient confidence and their understanding of the immune deficiency but also contribute to the improvement of health-related quality of life. Such home therapy programs should be encouraged, and wherever possible, experienced centers should extend their services to include patients who require immunoglobulin therapy for immunomodulation. Home therapy programs play an important role in long-term health outcome.


Assuntos
Terapia por Infusões no Domicílio/métodos , Imunização Passiva/métodos , Síndromes de Imunodeficiência/terapia , Terapia por Infusões no Domicílio/economia , Terapia por Infusões no Domicílio/psicologia , Terapia por Infusões no Domicílio/tendências , Humanos , Imunização Passiva/economia , Imunização Passiva/psicologia , Imunização Passiva/tendências , Síndromes de Imunodeficiência/economia , Educação de Pacientes como Assunto , Guias de Prática Clínica como Assunto , Desenvolvimento de Programas/economia , Desenvolvimento de Programas/métodos , Qualidade de Vida
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