Serial duplication of 10 (q21 to q22) in a mentally retarded boy with congenital malformations.
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Child↗
Biomedical subjects
S L Linna
Publications and source records attributed to S L Linna.
Elevated erythrocyte adenosine deaminase activity in Down's syndrome.
Erythrocyte ADA activity was measured in 29 cases of Down's syndrome and in 29 age- and sex-matched controls subjects. The mean activity (+/- S.D.) of ADA in Down's syndrome was 1883 +/- 463 mU/g Hb (37 degrees C) and 1361 +/- 294 mU/g Hb in the controls. The difference was statistically significant (p less than 0.001). The purine metabolism of Down's syndrome patients is discussed.
Adenosine Deaminase↗
Neuroleptic treatment of oligophrenic patients. A double-blind clinical multicentre trial of cis(Z)-clopenthixol and haloperidol.
One hundred mentally retarded patients from five Finnish institutions took part in a double-blind, double-dummy 12-week trial assessing the therapeutic effect of cis(Z)-clopenthixol and haloperidol. Assessments including CGI by psychiatrists and ward personnel as well as a 4-item target symptom scale was done at weeks 0, 4, 8, and 12. Improvement was registered by the psychiatrists in 16, 21, and 24 cis(Z)-clopenthixol patients and in 11, 6, and 7 haloperidol patients at weeks 4, 8, and 12, respectively--the difference between the two drugs being significant at weeks 8 and 12. The ratings of CGI by the personnel and the 4-item scale by the psychiatrists showed less improvements and no significant differences between the two drugs. While the overall impression of interference of patients' functioning by side-effects were in the favour of haloperidol the number of single side effects increased more with haloperidol than with cis(Z)-clopenthixol during the 12 weeks. Average doses administered at week 12 were 34 mg cis(Z)-clopenthixol and 5 mg haloperidol.
Adult↗
Immunodeficiency associated with a deletion in the short arm of the X-chromosome.
The immunocapacity of a 28-year-old mentally retarded proband and her clinically normal mother and sister, all having a deletion of the short arm of one of the X-chromosomes [46, X, del (X) (pter to 22: :p11 to qter)], was evaluated. The concentrations of immunoglobulin IgA (0 . 4 g/l), IgG (4 . 4 g/l) and IgM (0 . 2 g/l) were low in the proband. The serum IgA (0 . 9 g/l) concentration of her mother was also at the lower normal limit. The serum concentration of complement component C4 was low both in the proband (0 . 17g/l) and in her mother (0 . 18 g/l). Phagocytosis and killing of bacteria by granulocytes were normal in all of them. However, the chemotactic response of granulocytes was at the lower normal level in the patient. The in vitro responses of peripheral blood lymphocytes to the polyclonal T-clonal mitogens, PHA and Con A, were about half normal in the patient and were also decreased in her mother. The response was also decreased against PWM, to about one-sixth of the normal value in the patient and to one-half in her mother. The Con A response was decreased in the sister, while her PHA and PWM responses were normal. In contrast to these findings, the responses against the antigen-specific stimulators, PPD and oidiomycin, were normal in all subjects. Natural killer cell activity against the K-562 cell line was decreased in the patient but normal in her mother and sister. The number of B cells was at the normal limit in all subjects. The amount of E rosette-forming T lymphocytes was normal but the amount of ANAE-positive cells was decreased, especially in the proband (31%). Our results describe a new human immunodeficiency state, probably associated with X-chromosome deletion. We suggest that the short arm of the X-chromosome exerts its effect on regulatory T cells. Whether the humoral defect is connected with suppressor T cells remains to be established.
Adult↗
Dipropylacetate and aminoaciduria.
Dipropylacetate (DPA) is an anticonvulsant, which has been successfully used in the treatment of several types of epilepsy. The mode of action has not yet been definitely elucidated, although evidence of influence on gamma aminobutyric acid (GABA) turnover in brain has been presented. Several recent reports of the occurrence of hyperglycinemia in association with DPA-treatment indicate that this agent also influences other areas of amino acid metabolism. In the present study of 10 patients receiving DPA for epilepsy, high concentrations of glycine in plasma and CSF were observed, whereas the levels of all other amino acids remained virtually unchanged. The effect of DPA on urinary excretion of amino acids seems to be of considerable significance as marked elevation of urine concentrations of alanine, asparagine, cystine, glycine, histidine, isoleucine and leucine, phenylalanine and tyrosine were observed. This secondary hyperglycinemia could be due to suppression of glycine conjugation reactions, whereas DPA or its metabolites might interfere with tubular reabsorption of various amino acids, thereby causing hyperaminoaciduria.
Adolescent↗
Dipropylacetate and hyperglycinemia.
Hyperglycinemia was induced by dipropylacetate (DPA) (dose 14-41 mg/kg per day) in 10 Finnish epileptic patients with neurologically disabling diseases of various kinds. When comparing the levels of glycine in plasma, cerebrospinal fluid and urine from the patients with 10 otherwise comparable patients, and normal values there was a fourfold excretion of glycine in urine. All the treated patients had elevated CSF (49 +/- 23 mumol/l) and plasma (475 +/- 76 mumol/l) glycine concentrations. The plasma/CSF glycine ratio was not influenced by the treatment. In comparison with corresponding values in nonketotic hyperglycinemia and ketotic hyperglycinemia, this condition probably arises in a manner similar to secondary hyperglycinemia in organic aciduria. DPA probably influences metabolism in a way similar to some metabolites of amino acids in organic acidurias.
Adolescent↗