RESUMO
Genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase (the first enzyme in the processing pathway of N-linked oligosaccharide), cause the rare congenital disorder of glycosylation type IIb (CDG-IIb), also known as MOGS-CDG. MOGS is expressed in the endoplasmic reticulum and is involved in the trimming of N-glycans. We evaluated two siblings with CDG-IIb who presented with multiple neurologic complications and a paradoxical immunologic phenotype characterized by severe hypogammaglobulinemia but limited clinical evidence of an infectious diathesis. A shortened immunoglobulin half-life was determined to be the mechanism underlying the hypogammaglobulinemia. Impaired viral replication and cellular entry may explain a decreased susceptibility to infections.
Assuntos
Agamaglobulinemia/genética , Defeitos Congênitos da Glicosilação/imunologia , Resistência à Doença/genética , Viroses/imunologia , alfa-Glucosidases/genética , Agamaglobulinemia/imunologia , Anticorpos Antivirais/sangue , Criança , Defeitos Congênitos da Glicosilação/genética , Defeitos Congênitos da Glicosilação/metabolismo , Feminino , Glicosilação , Humanos , Imunoglobulinas/metabolismo , MasculinoRESUMO
Chronic pain is a public health problem that affects millions of people; however, those with comorbid behavioral health issues are overrepresented in that number. Although pain can be caused by a variety of factors, it has traditionally been associated directly with physical pathology. We know there is variation in how patients report pain whether in the presence or absence of physical pathology; therefore, pain must be viewed as a complex issue. In this article, the authors review the relationship between pain and mental illness and discuss strategies and various modalities for addressing pain in the primary care setting.