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Biomedical subjects

B D Lake

Publications and source records attributed to B D Lake.

144 records · Page 8Linked to original sources
PubMed1968

Cystinosis: electron microscopic evidence of lysosomal storage of cystine in lymph node.

Electron microscopic examination of a biopsy specimen of cystinotic lymph node demonstrated that cystine crystals were entirely intracellular, and that the majority, including those of the largest size, were enclosed by intact limiting membranes. Acid phosphatase activity was localized specifically at the periphery of the crystal profiles and the smallest crystal aggregates were contained in osmophilic dense bodies which had the appearance of progressively swollen lysosomes. The implications of the suggested lysosomal distribution of cystine are discussed.

Acid Phosphatase↗
PubMedDate not supplied

Inherited ichthyoses: a review of the histology of the skin.

The histology of skin biopsies from 46 cases of different forms of congenital ichthyosis was reviewed. Sections were examined for hyperkeratosis, follicular keratosis, appearance of the granular layer, epidermal thickness, tonofilament clumps, epidermal vacuolation, spongiosis, bullae and dyskeratosis, appearance of the basal layer, inflammation, mitoses, and adnexae. A detailed description of the histological features of each type of ichtnyosis studied is presented. Some ichthyoses can be recognized on routine hematoxylin and eosin staining (bullous ichthyosiform erythroderma, Netherton's syndrome, and neutral lipid storage disease); some forms require frozen sections to demonstrate fat (neutral lipid storage disease) or enzyme activity (Sjögren-Larsson syndrome). Protein electrophoresis and enzymology are necessary for X-linked recessive ichthyosis. A close liaison with the clinicians is essential for the diagnosis of all types of ichthyosis, and combined studies including routine histopathology, electron microscopy, and frozen sections may be required for the diagnosis.

Humans↗
PubMedDate not supplied

Symptomatic selenium deficiency in a child on home parenteral nutrition.

A 27-month-old girl with microvillous atrophy who was maintained on long-term home parenteral nutrition presented with regression of walking skills. She was found to have a tender skeletal myopathy affecting both legs only. Plasma selenium level was less than 0.05 mumol/L (0.4 microgram/dl) (normal 0.8-1.6 mumol/L; 6.3-12.6 micrograms/dl), red blood cell glutathione peroxidase was undetectable, and plasma glutathione peroxidase was 6 U/L (normal 90-350 U/L). Electromyography was abnormal, muscle biopsy showed a nonspecific myopathy, and muscle selenium was 0.23 micrograms/g dry weight (normal 0.45-1.05 micrograms/g dry weight). Following replacement with intravenous sodium selenite, there was a rapid improvement with complete disappearance of muscle pain and tenderness within 1 week. Crawling and walking skills were regained within 6 weeks, indicating that selenium deficiency was the cause of her symptoms. It is suggested that selenium be monitored and supplemented in children on long-term total parenteral nutrition particularly if enteral absorption is deficient.

Electromyography↗
PubMedDate not supplied

Congenital amaurotic idiocy--a pathological, histochemical, biochemical and ultrastructural study.

A case of congenital amaurotic idiocy, a subgroup of the neurovisceral lipidoses, is described. This is a rare condition of which only five cases have been reported previously. The brain was small and firm with marked neuronal loss and gliosis. Granular material with histochemical properties of the ceroid-lipofuscin group of lipopigments was found deposited within astrocytes, macrophages and residual brain stem neurons. Cells of the mononuclear phagocyte system within the liver, spleen, thymus and lungs contained similar material. Ultrastructurally this substance appeared as intracytoplasmic membranous and granular deposits within limiting membranes, and biochemical analysis of formalin-fixed tissue did not identify a specific material. Comparison is made with the Batten group of disorders.

Astrocytes↗
PubMedDate not supplied

Biliary atresia and meconium ileus associated with Niemann-Pick disease.

A boy, and 10 months later his sister, presented in the neonatal period with meconium ileus. Both became jaundiced and were found to have biliary atresia and Niemann-Pick disease, type C. The causes of the meconium ileus were not established. Both died before the age of 6 weeks.

Biliary Atresia↗