Subject(s)
Agnosia/diagnosis , Auditory Perceptual Disorders/diagnosis , Perceptual Disorders/diagnosis , Spasms, Infantile/diagnosis , Tourette Syndrome/diagnosis , Visual Perception , Adolescent , Apraxias/diagnosis , Child , Child, Preschool , Follow-Up Studies , Humans , Infant , Male , Remission, SpontaneousSubject(s)
Dystrophin/genetics , Gene Deletion , Muscle Cramp/genetics , Child, Preschool , Gene Expression , Genotype , Humans , Male , Muscular Dystrophies/genetics , PhenotypeABSTRACT
We studied two infants with Shwachman's syndrome in whom the immunoreactive trypsin concentration was found to be abnormally low. Experience with several hundred assays for immunoreactive trypsin has not shown this low concentration. This finding is probably specific for pancreatic acinar deficiency at this age and strongly suggests Shwachman's syndrome.
Subject(s)
Agranulocytosis/immunology , Failure to Thrive/immunology , Neutropenia/immunology , Pancreatic Diseases/immunology , Trypsin/immunology , Diarrhea/immunology , Humans , Infant , Infant, Newborn , Male , Syndrome , Trypsin/analysisABSTRACT
Plasma was obtained from two patients with severe factor IX deficiency who had developed specific inhibitors of factor IX. Immunochemical characterization of the inhibitors by coagulation inhibitor neutralization assays and by immunoelectrophoretic methods demonstrated that both were IgG antibodies. One of the antibodies appeared to be monoclonal in origin with IgG subclass 4 heavy chains and lambda light chains. The other appeared to be oligoclonal and contained IgG subclass 1 and subclass 4 heavy chains and kappa and lambda light chains. One of the patients was treated with conventional, non-activated factor IX concentrate and with activated factor IX concentrate (Feiba) for repeated bleeding episodes. Administration of Feiba resulted in a progressive shortening of the kaolin cephalin clotting time and was followed by a good clinical response. Infusion of non-activated factor IX concentrate failed to induce clinical resolution of haemarthroses and had minimal effect on laboratory tests. The presence of circulating immune complexes could not be demonstrated in this patient.
Subject(s)
Factor IX/administration & dosage , Factor IX/immunology , Hemophilia B/therapy , Isoantibodies/analysis , Adult , Child , Factor IXa , Hemophilia B/diagnosis , Hemophilia B/immunology , Humans , Immunoelectrophoresis, Two-Dimensional , Male , Neutralization Tests , Partial Thromboplastin Time , Whole Blood Coagulation TimeABSTRACT
The use of negative contrast electronmicroscopy of stool suspension in the investigation of the aetiology of childhood gastroenteritis has led to the recognition of a number of candidate viral agents. There is convincing evidence that rotavirus is the single most important cause of community acquired gastroenteritis, and is responsible for some nosocomial outbreaks. The epidemiology of rotavirus acqusition, differential clinical susceptibilities of young and older infants, pathogenesis of disease, mechanisms of immunity and breast milk protection, and the role of different viral serotypes are aspects as yet poorly understood; and attempts to propagate human rotavirus in tissue culture have met with only limited success. Moreover, the aetiologically unaccountable one third of cases of infantile diarrhoea, and the association of enteritis with up to six other virus-like particles add to the complexity of the problem. This review considers the available data from human and animal studies, and based on the experience of ourselves and others comments on the present state of knowledge and trends in continuing research.
