ABSTRACT
Authors report a ring chromosome 18 (18 r) in a four year old boy, with low birth weight, retarded growth and development, microcephaly and plagiocephaly, horizontal nystagmus, ambiguous genitalia, clinodactyly of the fifth finger, distal axial triradius, whorls pattern in 8 fingers in dermatoglyphic. Serum IgA is lower than 3 mg/dl. Parents karyotype is normal.
Subject(s)
Chromosome Aberrations , Chromosomes, Human, Pair 18 , Ring Chromosomes , Child, Preschool , Humans , Male , PhenotypeSubject(s)
Neoplasms/genetics , Chromosome Aberrations/complications , Chromosome Aberrations/genetics , Chromosome Deletion , Chromosome Disorders , Eye Neoplasms/genetics , Humans , Kidney Neoplasms/genetics , Mutation , Neoplasms/etiology , Oncogenes , Oncogenic Viruses/genetics , Oncogenic Viruses/physiology , Proto-Oncogenes , Retinoblastoma/genetics , Tumor Virus Infections/complications , Wilms Tumor/geneticsABSTRACT
Fibrin degradation products (FDP) D and E, total protein, cell count, and alpha-1-antitrypsin levels have been measured in the cerebrospinal fluid (CSF), and FDP-D and E, and alpha-1-antitrypsin analyzed in serum in 13 cases of meningococcal disease, six with meningococcal septicemia and seven with meningitis. Neisseria meningitidis serotype B was the responsible agent in all cases. The following conclusions are obtained: 1) The presence of FDP in the CSF has no prognostic value, and its detection only in plasma does not exclude a fatal outcome. 2) Statistical analysis of the data suggests that the presence of FDP in the CSF is not the result of passive transfer from plasma but it indicates a meningeal inflammatory reaction. 3) Alpha-1-antitrypsin levels are elevated in meningococcal infections both in plasma and in the CSF, and they significantly correlate with the intensity of the fibrinolytic activity.
