3 documents found, page 1 of 1
Elevated IgA and IL-10 levels in very-early-onset inflammatory bowel disease se...
Sandy,Natascha Silva; Marega,Lia Furlaneto; Bechara,Giane Dantas; Riccetto,Adriana Gut Lopes; Bonfim,Carmen; Vilela,Maria Marluce dos SantosABSTRACT Objective: To report two patients with very-early-onset inflammatory bowel disease (VEOIBD) secondary to interleukin-10 receptor (IL-10R) mutations, explore immunophenotyping data and plasma cytokine profile on these cases compared to healthy controls, and describe the phenotype of IL-10/IL-10R mutations based on a literature review. Case description: We report on two female infants referred to our ter...
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
Giugliani,Roberto; Federhen,Andressa; Muñoz Rojas,Maria Verônica; Vieira,Taiane; Artigalás,Osvaldo; Lapagesse Pinto,Louise; Azevedo,Ana CecíliaMucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treat...
Neurological complications of hematopoietic stem cell transplantation (HSCT): a...
Teive,Hélio A.G.; Funke,Vaneuza; Bitencourt,Marco A.; Oliveira,Michel Michels de; Bonfim,Carmen; Zanis-Neto,José; Medeiros,Carlos R. deWe present the neurological complications evaluated in a series of 1000 patients who underwent hematopoietic stem cell transplantation (HSCT). Central nervous system (CNS) neurological complications, particularly brain hemorrhages, were the most common, followed by seizures and CNS infections. An unusual neurological complication was Wernicke's encephalopathy. Less frequent neurological complications were metab...