RESUMO
Hunter syndrome (mucopolysaccharidosis II) is a rare X-linked disorder of mucopolysaccharide metabolism that typically progresses to severe mental retardation and death by 18 years of age. A child with Hunter syndrome received an allogeneic bone marrow transplantation from an unaffected human leukocyte antigen-identical sibling at the age of 29 months without complications. Despite full and sustained engraftment now at 70 months after transplantation, the patient's neurocognitive abilities have continued to deteriorate. In this case, replacement of defective marrow-derived macrophages by bone marrow transplantation was not effective in preventing the neurologic progression of the disease in a child with the severe phenotype of Hunter syndrome.
Assuntos
Transplante de Medula Óssea , Mucopolissacaridose II/terapia , Deficiências do Desenvolvimento , Progressão da Doença , Humanos , Iduronato Sulfatase/análise , Lactente , Leucócitos/enzimologia , MasculinoAssuntos
Transfusão de Sangue , Hemofilia A/imunologia , Hepatite B/genética , Adulto , Alanina Transaminase/sangue , Criança , Pré-Escolar , Feminino , Hemofilia A/terapia , Hepatite B/enzimologia , Hepatite B/imunologia , Anticorpos Anti-Hepatite B/imunologia , Antígenos de Superfície da Hepatite B/imunologia , Humanos , Masculino , Vacinas contra Hepatite Viral/uso terapêuticoRESUMO
The decorative bronze handle of a tumi excavated at the Inca city of Machu Picchu, Peru, contains 18 percent bismuth and appears to be the first known example of the use of bismuth with tin to make bronze. The alloy is not embrittled by the bismuth because the bismuth-rich constituent does not penetrate the grain boundaries of the matrix phase. The use of bismuth facilitates the duplex casting process by which the tumi was made and forms an alloy of unusual color.
RESUMO
Twelve patients, ranging from the neonatal period through adolescence, with subacute necrotizing encephalomyelopathy (Leigh disease) were studied. Autopsies of these patients demonstrated an associated hypertrophic cardiomyopathy in seven; of these, four had asymmetric septal hypertrophy. In two patients, the cardiac lesion was observed by premortem echocardiograms. The common occurrence of a cardiac lesion emphasizes the probable systemic nature of SNEM and may serve to segregate these patients into two groups. Because of the involvement of the two systems, we suggest that SNEM may have some relation to a variety of other cardioneurologic syndromes.
Assuntos
Encefalopatias/complicações , Cardiomiopatia Hipertrófica/complicações , Adolescente , Encéfalo/patologia , Encefalopatias/patologia , Cardiomiopatia Hipertrófica/patologia , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Miocárdio/patologiaRESUMO
The role of the cerebrospinal fluid lactate measurement was evaluated for the management of children with suspected bacterial meningitis. Although CSF lactate can be precisely measured, it provided no additional information over that which can be obtained from a CSF cell count. Reliance on the CSF lactate concentration alone would have increased the number of children being treated unnecessarily with antibiotics. There was neither clinical nor experimental evidence to suggest that the test should be used in the early diagnosis of meningitis. In patients with equivocal clinical and CSF findings, it failed to differentiate bacterial from nonbacterial infection. The data do not support the view that the measurement of CSF lactate has significant role in the management of children with suspected meningitis.