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Biomedical subjects

B D Lake

Publications and source records attributed to B D Lake.

At least 109 records · Page 6Linked to original sources
PubMed1981

Abnormalities of the colonic regulatory peptides in Hirschsprung's disease.

We describe here a depletion of peptide containing nerves and cells in Hirschsprung's disease, in comparison with specimens of bowel taken from age-matched neonates with no evidence of chronic constipation. VIP content in the diseased specimens was reduced by almost 80%, from 110/+-10.6 (mean +/- SEM) pmol VIP/g wet weight of tissue in controls to 23.8 +/- 3.5 pmol/g in the mid-portion of the diseased specimens. In addition, the numbers of enteroglucagon and somatostatin cells in the mucosa were significantly reduced in the aganglionic portions. Enteroglucagon cells were reduced from 55 +/- 7 in controls to 27 +/- 2 in proximal portions rising to 44 +/- 3 and 49 +/- 4 cells/mm2 in middle and distal areas. Somatostatin cell numbers also fell, from 5.5 +/- 1.9 to 1.8 +/- 0.8, 2.5 +/- 0.7 and 3.8 +/- 0.9 cells/mm2 in similar areas. Further investigation of the abnormalities of the diffuse neuroendocrine system in Hirschsprung's disease may help in understanding the nature of this condition and provide additional information on the role of these peptides in the control of gut function.

Bombesin↗
PubMed1981

Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy.

Thirteen children with abnormal mitochondria in muscle tissue, and a progressive neurological disorder that affected the cerebrum, cerebellum, extrapyramidal system, vestibular system, retina, upper motor neuron, lower motor neuron, and musculature, are reported. Other signs and symptoms were short stature, diabetes mellitus, cardiopathy, hypoplastic anaemia, glomerulopathy, and renal tubular dysfunction. These symptoms may occur singly or in various combinations and the manifestation may differ even within the same family. The most common clinical picture was that of "ophthalmoplegia plus'. Occurrence in relatives varied from isolated symptoms to the complete syndrome with "ragged red fibres' and is not inconsistent with an autosomal dominant mode of inheritance with variable expressivity. Theories for the pathophysiological basis of this syndrome are discussed and the literature reviewed.

Child↗
PubMed1979

Congenital fibre type disproportion myopathy. A histological diagnosis with an uncertain clinical outlook.

Nine children with congenital fibre type disproportion (CFTD) are described. Their muscle biopsies contained type 1 fibres which were smaller than the largest type 2 fibres by at least 13.5%. Attention is drawn to the variable natural history of this disorder which generally carries a good prognosis but may sometimes be associated with fatal respiratory problems. For important therapeutic, genetic, and prognostic reasons CFTD must be distinguished from other conditions with similar histochemical or clinical features.

Biopsy↗
PubMed1978

Disordered intestinal function in glycogen storage disease.

The classical features of Type I glycogen storage disease (McKusick 23220) (GSD) are hepatomegaly, hypoglycaemia, and acidosis, enlargement of the kidneys and short stature. Glucose-6-phosphatase (EC 3.1.3.9) activity is defective not only in liver and kidney but also in small intestine (Field et al., 1965). In addition to the classical features, many patients suffer from episodes of diarrhoea (Fine et al., 1969). At the Hospital for Sick Children, Great Ormond Street, patients with the commoner forms of hepatic glycogen storage disease have episodes of diarrhoea or loose stools more commonly than was suspected. We have investigated small intestinal function in three patients with Type I GSD by both in vitro and in vivo techniques.

Diarrhea↗
PubMed1978

Early-juvenile Batten's disease--a recognisable sub-group distinct from other forms of Batten's disease. Analysis of 5 patients.

In most cases where rectal biopsy is performed to diagnose Batten's disease, there is good correlation between biopsy appearance, age of onset, clinical course and electrophysiological parameters. As a result 3 forms of the disease have been recognised; infantile, late infantile and juvenile. In a review of rectal biopsy in Batten's disease at the Hospital for Sick Children, Great Ormond Street, we have studied the few cases in which no such correlation appeared to exist. In 5 the features are sufficiently similar to suggest a further recognisable sub-group which could be descriptively called "early juvenile". The clinical course, electrophysiological features and the absence of vacuolated lymphocytes in this subgroup are as found in the late infantile form, whereas the biopsy findings are identical to those of the juvenile form. By analogy with some of the mucopolysaccharidoses we speculate that the genes of the late infantile and juvenile forms of Batten's disease are allelic and that the "early juvenile" sub-group is a genetic compound presenting as an intermediate phenotype.

Child↗
PubMed1978

Hirschsprung's disease: an appraisal of histochemically demonstrated acetylcholinesterase activity in suction rectal biopsy specimens as an aid to diagnosis.

Suction rectal biopsy specimens, from a series of 168 infants and children with constipation and other gastrointestinal problems, were stained with a sensitive acetylcholinesterase method, and the results were compared with routine histology, radiology, anorectal manometry, and the final diagnosis. In all cases of Hirschsprung's disease, there was an increase in numbers and sizes of cholinergic nerves in the lamina propria and muscularis mucosae. No false-positive or false-negative results were found. The test was found to be more reliable and consistent than other methods available.

Acetylcholinesterase↗
PubMed1977

Adult Niemann-Pick disease: its relationship to the syndrome of the sea-blue histiocyte.

Three unrelated female patients with adult Niemann-Pick disease are described. All the patients had reduced coagulation factors and involvement of the marrow, liver, spleen and lungs. Two patients were shown to have abnormal platelet function; two patients also had pingueculas and a late onset of a menarche. Foam cells and sea-blue histiocytes were seen in the marrow and livers in all three patients, in the spleen in two patients in the lymph nodes in one patient. The clinical presentation, the histologic appearance, the histochemical staining reactions, the lipid analysis and the ultrastructure were all consistent with a diagnosis of adult Niemann-Pick disease. On the basis of these observations, it is clear that adult Niemann-Pick disease is a cause of the syndrome of the sea-blue histiocyte. The existence of the syndrome of the sea-blue histiocyte as a separate entity is also questioned.

Adolescent↗
PubMed1977

Adynamic bowel syndrome. Report of a case with disturbance of the cholinergic innervation.

A case of adynamic bowel syndrome is described. Full thickness biopsies of the large bowel showed the presence of ganglion cells, no acetylcholinesterase positive nerves in the lamina propria, submucosa or among the smooth muscle cells of the circular and longitudinal muscle coats, and absence of the argyrophil plexus. Electron microscopic examination showed replacement of the normal axon bundle by vacuolated tracts with small round bodies in one area--probably viral. Neuronal cytoplasm also showed similar vacuolation. It is suggested that the damage to the cholinergic innervation may be caused by a neurotoxic agent.

Axons↗
PubMed1977

Juvenile Gaucher's disease with horizontal gaze palsy in three siblings.

Three children in a West African family had Gaucher's disease of juvenile onset (Type 3), and all showed an identical neurological disorder. The diagnosis was substantiated by histochemical demonstration of Gaucher cells in bone marrow, liver, and spleen, the finding of an excess of glucosyl ceramides in a liver extract, and a deficient activity of the enzyme beta-glucosidase in cultured skin fibroblasts. The neurological picture was characterised by myoclonic epilepsy, muscle wasting, hypotonia, pyramidal signs, some intellectual deterioration, and a striking disturbance of eye movements. The latter appears to result from specific involvement of the supranuclear pathways subserving lateral gaze. The distinctive features of this clinical syndrome are emphasised.

Age Factors↗
PubMed1976

Cerebral malformation associated with metabolic disorder. A report of 2 cases.

A clinical and neuropathological study is presented of two cases each of which showed neuronal heterotopia. Microgyria was also present in one case. One patient was suffering from a degenerative disorder affecting the white matter. The other was a case of Menkes' disease. It is suggested that the antenatal damage may have been caused by an imbalance of the maternal metabolism, the predisposing factor being the mother's carrier state for a metabolic defect. This is the first report of teratogenesis in a case of Menkes' disease. It is also noted that in this case there is interference with the postnatal as well as the antenatal development of the brain.

Brain↗
PubMed1976

Rectal biopsy in the diagnosis of neurological disease in childhood.

A surgical technique for taking a full thickness rectal biopsy for neurological diagnosis is described. The indications for, and results of 93 biopsies are reviewed. A definite neurological diagnosis was made in 38 (41 per cent). The usefulness of rectal biopsy is now largely confined to Batten's disease, which was found in 32 (34 per cent of the total). Alternatives and objections to rectal biopsy for neurological diagnosis are discussed. It is concluded that rectal biopsy is a safe and reliable procedure.

Biopsy↗
PubMed1976

What do you think you are quantifying? An appraisal of histochemical methods in the measurements of the activities of lysosomal enzymes.

The effect of a standard method of fixation (formalin-calcium 24 hr at 4 degrees C, followed by washing in gum-sucrose) on the activity of three lysosomal enzymes (N-acetyl-beta-D-glucosaminidase, acid phosphatase, beta-D-galactosidase) in the liver of three species (human, rabbit, lamb) was studied by biochemical methods, and the results were compared with staining intensities in histochemical preparations of the same tissues. The following conclusions were reached: (1) Fixation by formaldehyde changes the characteristics of the enzymes and makes comparisons between biochemistry and histochemistry difficult to interpret; (2) The intensity of staining in fixed or unfixed tissue sections bears no relation to absolute levels of enzyme activity; (3) Changes in staining intensity of a particular enzyme activity in a particular organ of a particular species prepared in a particular way are significant. Quantifying these changes is useful, as long as absolute values are not considered, and it is realized that it is only the difference that is being quantified.

Acetylglucosaminidase↗