This report concerns a 3-month-old girl with rapidly progressive psychomotor retardation, hepatomegaly, vacuolated lymphocytes, minimal bone dysplasia and normal excretion of acid mucopolysaccharides. A deficiency of acid beta-galactosidase was demonstrated in isolated leucocytes and in a liver biopsy. The diagnosis of generalized gangliosidosis due to deficiency of beta-galactosidase was also based on the absence of the enzyme activity from cultured fibroblasts. The diagnosis was confirmed on autopsy at 16 months by typical histology, electron microscopy and biochemistry of the organs. beta-galactosidase deficiency has been demonstrated in various clinical conditions ranging from generalized gangliosidosis with severe mental retardation to clinical pictures resembling Morquio's disease and normal intelligence. The heterogeneity of the clinical manifestations in beta-galactosidase deficiency could be explained by different residual activities of a structurally mutated enzyme towards its various substrates.
Hyperbilirubinaemia (HyB) is the most common health disturbance in the neonatal period. The aim of this prospective study is to determine whether HyB and/or phototherapy (PhT) together with transient separation during the neonatal period are associated with impaired mother-child attachment after the 1st year of life. We divided 107 healthy term infants into three groups: 29 markedly icteric infants who underwent PhT (mother-child separation), 40 mildly icteric infants without PhT and a control group of 38 nonicteric infants. At the age of 1 year a paediatric examination and a Denver test were performed, and the mother-infants pairs were observed in Ainsworth's strange situation. The results show a similar distribution of the attachment patterns in the three different groups of infants. HyB and PhT do not negatively seem to affect the quality of attachment. Analysis of additional aspects showed that maternal coping and her perception of the child appear to be more important antecedents of the quality of attachment after the 1st year of life.
Neonatal morbidity was higher among the babies of 521 women who were gainfully employed during pregnancy compared to those of 475 non working women of the same area (Aarau, Switzerland). The difference was lower (6%) in the part time employed than in those working full time (11%.) It was almost entirely due to the higher number of primiparae and of smokers among those women who were working during pregnancy.
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