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Biomedical subjects

C H Fish

Publications and source records attributed to C H Fish.

14 recordsLinked to original sources
PubMed1982

Metachromatic leukodystrophy caused by a partial cerebroside sulfatase.

A patient with neuropathy and myopathy since infancy but whose neuropathy had been stable for a number of years showed a profound deficiency of arylsulfatase A in leukocytes and urine. Urine contained material that stained metachromatically and cochromatographed with cerebroside sulfate. In contrast, cultured fibroblasts contained about 10-20% of normal arylsulfatase A with properties identical to properties of normal fibroblast enzyme, except that it showed no cerebroside sulfatase activity. Growing fibroblasts in the cerebroside sulfate loading test had an attenuated rate of sulfatide hydrolysis. A re-examination of the cerebroside sulfatase reaction revealed that while only limited hydrolysis occurred with low concentrations of taurodeoxycholate or cholate (type I activation), significant hydrolysis of the natural substrate did take place with high concentrations of cholate (type II activation). This suggests that there is a partial cerebroside sulfatase defect in this atypical form of metachromatic leukodystrophy.

Adult↗
PubMed1976

Immunological status in tuberous sclerosis.

Cellular and humoral immunity, and lymphoid organ pathology, have been investigated in 10 institutionalized patients with tuberous sclerosis and 10 institutionalized matched controls without the disease. Type and incidence of infections and tumours were reviewed for each group, as was current medication. Elevated serum IgM levels were found in the patients with tuberous sclerosis, but no immunological deficiency of either cellular of humoral immunity was found, nor was there a difference in infection between the groups. Only patients with tuberous sclerosis had evidence of neoplasia. No morphological or histological abnormalities of lymph nodes, spleen or thymus were present. Explanations for the difference between tuberous sclerosis and ataxia telangiectasia are discussed, together with the effect of immuno-surveillance on the development of malignancy.

Adolescent↗
PubMed1975

Functional and metabolic studies of platelets from patients with Lesch-Nyhan syndrome.

Platelet function was investigated in three patients with the Lesch-Nyhan syndrome. Platelet count, morphology and size distribution was normal in all patients. Platelet turnover was normal. Electron microscopy did not reveal any ultrastructural abnormality. Template bleeding times were normal and prolonged after aspirin ingestion in two out of the three patients: the patient that failed to respond to the aspirin challenge also had decreased retention of platelets on a glass bead column. Biochemical studies revealed that total platelet ATP was reduced by 34% in the presence of a normal level of ADP in the storage pool. These platelets failed to incorporate radioactive hypoxanthine but did incorporate radioactive adenine to produce adenine nucleotides and a trace amount of guanine nucleotides. The results indicate that normal platelets have a functionally intact pathway for utilizing hypoxanthine as a source of preformed purine, and that the failure to salvage this purine, as in the Lesch-Nyhan syndrome, results in a decreased level of total platelet ATP. These findings suggest that platelets can function normally despite a one third reduction in total ATP content.

Adenine Phosphoribosyltransferase↗
PubMed1965

Stuttering. The effect of treatment with D-amphetamine and a tranquilizing agent, trifluoperazine. A preliminary report on an uncontrolled study.

In an institution for the mentally retarded, an uncontrolled study was made on the effects of d-amphetamine, d-amphetamine followed by trifluoperazine, and of combined d-amphetamine and trifluoperazine on stuttering. Of 28 patients to whom d-amphetamine was given, 14 showed improvement after one month's treatment. Eight more showed improvement when trifluoperazine was given for one month to those who did not improve on d-amphetamine. In many cases, improvement was sustained at least six months after treatment was discontinued. Treatment with d-amphetamine was apparently more effective in patients with functional than with organic retardation.

Dextroamphetamine↗
PubMedDate not supplied

Toxocariasis in an institution for the mentally retarded.

A seroepidemiologic investigation was conducted in order to determine the cause of an apparent increase in rates of eosinophilia among 1400 institutionalized children during 1976-1977. The annual serologic survey during this period revealed 283 (20%) individuals with eosinophilia that exceeded 600 cells/cu mm of blood. During a five-month period in 1977, five patients who were hospitalized in adjacent wards developed acute pneumonia with eosinophilia. Because laboratory tests of sputum, bone marrow, and stool failed to identify the etiologic agent, it was thought that these pneumonia cases might be related to the increased rates of eosinophilia. Analyses of random samples of sera from patients with eosinophilia revealed seroprevalence rates of 12% for Ascaris, 20% for Toxocara canis, 24% for Strongyloides stercoralis, and 32% with increased antibody to Entamoeba histolytica. Further investigation showed a statistically significant positive association between occurrence of eosinophilia and pica behavior, and eosinophilia and contact with dogs. Although the serologic survey showed patients to have had previous exposure to a variety of parasites, we hypothesize that a principal cause of eosinophilia among institutionalized children may be Toxocara infestation, due to their frequent pica behavior and, in this case, contact with resident animals. We recommend that children in similar facilities have limited contact with pet dogs, and only after frequent and vigorous examination of the animals for infectious parasites.

Animals↗