Search PubMed⌕ Search

Biomedical subjects

E Gilbert-Barness

Publications and source records attributed to E Gilbert-Barness.

At least 91 records · Page 5Linked to original sources
PubMed1991

A 7-year old white-male boy with progressive neurological deterioration.

A 9-month-old boy presented with rapid deterioration of psychomotor development. He developed seizures at 2 months, and shortly thereafter lost motor skills and developed feeding difficulties, increased startle response, red maculas, and decreased vision. His measurements, including head circumference, were greater than the 95th centile. No organomegaly was found. Serum determination of the hemoxsaminidases confirmed the diagnosis of Sandhoff disease.

Brain↗
PubMed1991

Hazards of mattresses, beds and bedding in deaths of infants.

Of 52 infants who had died suddenly and were referred to autopsy, nine had lain on adult water beds for the first time; five had died as a result of accidents; two had died on water beds; two were in beds with widely spaced slats; and one had died as a result of strangulation. Three deaths were due to overlying. Three other infants had been placed on sheepskin rugs for the first time and were found dead shortly thereafter. These infants ranged in age from 2 to 9 months, except for a severely mentally retarded nine-year-old with spastic paraplegia. We believe that a general warning should be issued concerning water beds and that soft bedding should not be used for infants. Infants should not be placed unattended or left to sleep on water beds; only beds recommended for infants should be used. Overlying of a young infant is most likely to occur on a water bed, or if the parent is obese or has consumed alcohol.

Accidents↗
PubMed1990

Chromosomal instability in hereditary tyrosinemia type I.

Autopsy of a 4-year-old girl with hereditary tyrosinemia type I revealed a hepatocellular carcinoma in addition to cirrhosis and renal tubular dysplasia. Cytogenetic studies performed on a skin fibroblast culture demonstrated greatly increased chromosome breakage, which affected 71% of the cells. This suggests that the development of hepatoma, which is frequent in this syndrome, and the presence of dysplastic changes of hepatocytes in nontumorous liver are related to genetic instability caused by accumulation of intermediates of tyrosine catabolism, which are natural alkylating agents (e.g., maleylacetoacetate and fumarylacetoacetate). The other microscopic structural changes seen, such as renal tubular atypia, pancreatic islet cell hyperplasia, and focal necrosis of cortical neurons, may also be partly due to DNA damage caused by the accumulation of abnormal metabolites produced in patients with type 1 tyrosinemia.

Amino Acid Metabolism, Inborn Errors↗
PubMed1989

The pathologist's perspective of genetic disease. Malformations and dysmorphology.

The pathologic approach to the study of malformations and congenital abnormalities emphasizes the importance of careful dissection and pathologic studies. Concepts and terms of morphogenesis as defined by the International Working Group are presented. The developmental field is the central concept of a malformation. Malformation syndromes, disruptions, sequences, deformations, dysplasias, and associations are presented. The significance of fetal hydrops and short umbilical cord is discussed. Pathologic studies in chromosome defects suggest pathologic markers for some chromosome abnormalities.

Chromosome Aberrations↗