[Fulminant meningococcal infections in children: apropos of 17 cases].
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Biomedical subjects
Publications and source records attributed to F Freycon.
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A case of graft-vs-host reaction after bone marrow transplantation is described. Histopathologic and ultrastructural findings in involved skin showed necrotic keratinocytes and abnormal melanocytes with satellite lymphocytes. No deposits of immunoglobulins or complement were found. These data provide direct evidence that chronic graft-vs-host disease in humans may be related to cellular hypersensitivity rather than to serum factors.
The authors describe four cases of atypical forms of glycogenosis with alpha-1,4-glucosidase (acid maltase) deficiency. The results of clinical, microscopic, histochemical, enzymological and immunological studies are described. Acid maltase activity has been studied in muscle, leukocytes and fibroblasts. The authors show no difference in the properties of acid maltase; the authors study the purified enzyme from various tissues.
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The association between glomerulonephritis and hereditary C2 complement deficiency has been found in 4 out of 8 children of a family. The hemolytic complement (CH50) was much decreased in homozygot subjects and slightly decreased in heterozygot. C1q, C4, C3, C5, C1s INA were normal, the C2 was found at an intermediate or null rate; CH50 could be reconstitued by purified human C2. The C2 deficiency genes were associated with HLA A10 B18 (father) and HLA A29 B18 (mother) haplotypes but HLA D allels were different on the 2 haplotypes. The C2 deficiency appears to lead to an increased susceptibility to immune-complexe diseases, specially to glomerulonephritis.
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A ring chromosome derived from a No. 4 chromosome was found in the complement of an 8-year-old boy with mental retardation and growth retardation and developmental defects characteristic of 4p deletion. Break points were at 4p15 and 4q35.
Two sisters with multiple congenital malformations were shown to be trisomic for 10q24 to 10qter as a consequence of malsegregation of the balanced paternal translocation t(9;10) (q34;q24). Comparison of their phenotype with that of other patients reported in the literature confirms the individuality of the partial 10q trisomy syndrome.
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The 11th case of congenital short small intestine malrotation is described. Its clinical features associated diarrheic episodes and subobstructive symptoms. Recovery suggests that the functional adaptation of congenital and surgically-induced short small intestine may have the same quality. Neither anatomical (presence or absence of pyloric hypertrophy) nor clinical variants (obstructive and diarrheic forms) challenge the nosologic unicity of this syndrome, whose genetic character is unquestionable in most cases.
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