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PubMed1982

[Self-inflicted hypoglycaemia (three cases)].

A woman with normal metabolism but addictive tendency injected insulin, as was proven by the presence of insulin antibodies in serum. Another woman with a normal metabolism caused hypoglycaemia by taking sulphonylurea preparations, apparently from self-destructive motives. After all laboratory and other tests had at first pointed to organic hyperinsulinism, the diagnosis of self-inflicted hypoglycaemia was finally made by demonstrating the drug in plasma. A young diabetic who required insulin caused hypoglycaemia by injecting additional insulin. The complete absence of C-peptide and especially the strict supervision confirmed the diagnosis.

Adolescent↗
PubMed2001

Munchausen syndrome presenting in a patient who has undergone temporomandibular joint surgery.

Munchausen syndrome is a rare psychiatric disorder. Patients with Munchausen syndrome insist on and repeatedly undergo unnecessary investigations and operative treatments. No organic pathosis is demonstrated, and treatment consistently fails to alleviate the symptoms. This article presents a case report and a brief discussion to facilitate recognition and management techniques.

Adult↗
PubMed1970

Evidence for transfer of enzyme product as the basis of metabolic cooperation between tissue culture fibroblasts of Lesch-Nyhan disease and normal cells.

Tissue culture fibroblasts derived from patients with Lesch-Nyhan disease (congenital hyperuricosuria) have a reduced IMP:pyrophosphate phosphoribosyltransferase (EC 2.4.2.8) activity and therefore incorporate, as detected by radioautography, much smaller amounts of tritiated hypoxanthine or guanine into cell nuclei and cytoplasm than do normal cells. However, Lesch-Nyhan cells grown in close contact with normal fibroblasts incorporate these purines. This phenomenon, which requires cell to cell contact for correction of the mutant phenotype, has been called metabolic cooperation. After separation of Lesch-Nyhan cells from normal cells, there is a prompt reversion to the mutant phenotype although the transferase is stable under these conditions for many hours.These results are most compatible with the transfer from normal to mutant fibroblasts of the product of the normal enzyme, a nucleotide or a nucleotide derivative, rather than the transfer of the transferase or informational macromolecules leading to the synthesis of the enzyme. Metabolic cooperation may provide a mechanism for maintaining normal cell function in the heterozygote in vivo. Evidence has been presented previously that selection of normal cells, presumably during embryogenesis, also provides a means for achieving normal function in the heterozygote.

Clinical Enzyme Tests↗
PubMed1971

Purification of IMP:pyrophosphate phosphoribosyltransferases, catalytically incompetent enzymes in Lesch-Nyhan disease.

IMP:pyrophosphate phosphoribosyltransferase (IPPase) (EC 2.4.2.8) has been purified over 7000-fold from human erythrocytes. The purified enzyme moved as a single band on disc electrophoresis. Antisera prepared in rabbits and rats against the purified enzyme precipitated and neutralized the enzyme, but had no effect on AMP-pyrophosphate phosphoribosyltransferase (EC 2.4.2.7) activity. Evidence was found for isozymes (enzyme variants) of IPPase in normal erythrocytes. Erythrocyte lysates of five patients with Lesch-Nyhan disease reacted with antisera against normal IPPase. Lysates from LN erythrocytes blocked the inactivation of normal enzyme by the antibody. LN erythrocytes had about the same concentration of enzyme protein as normal erythrocytes. The genetic defect in LN results in the production of essentially normal amounts of an immunologically identifiable but catalytically incompetent enzyme. Thus LN is apparently the result of a mutation in a structural gene and is not due to deletion of a structural gene or defect in a regulatory gene.

Adenine Nucleotides↗
PubMed1972

Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme.

Deficient hypoxanthine-guanine phosphoribosyl transferase (HGPRT; EC 2.4.2.8) enzymes from erythrocytes of patients with hyperuricemia and with the Lesch-Nyhan syndrome migrate 15% faster in polyacrylamide gel disc electrophoresis than the normal enzyme. A half-sister of two males with partial deficiency, who had 34% of normal HGPRT activity in her erythrocytes, yielded profiles containing two distinct zones of activity; one corresponded to the enzyme found in normal individuals and one to the variant of her half-brothers. However, in her profile her variant enzyme showed notably greater activity than that observed in her half-brothers. This increase was due to an activation of the variant by normal enzyme. Electrophoresis of mixtures of normal enzyme with partially deficient enzymes from patients with hyperuricemia and with the Lesch-Nyhan syndrome also led to activation of deficient HGPRT variants by normal enzymes. Deficient variants were also activated by normal enzyme on filtration through Sephadex G-25. Experiments in which deficient variant enzymes were activated with purified normal enzyme labeled with (125)I indicated that deficient enzymes incorporate components of the normal enzyme. No such activation of deficient enzymes was ever obtained when mixtures of deficient and normal enzymes were put together in a test tube.

Athetosis↗
PubMed2005

Self-inflicted skin diseases. A retrospective analysis of 57 patients with dermatitis artefacta seen in a dermatology department.

We analysed clinical symptoms, gender, age and social relations among 57 patients for whom a final diagnosis of dermatitis artefacta was established. The study is retrospective and the patients were seen in our department from 1982 to 2002. We observed that the diagnosis was 2.8 times more common in females than males. Symptoms were most common in the age group 18-60 years, median age 39 years. The skin lesions were 'multiple' among 88% of the patients. When self-infliction was suggested as the cause, two-thirds of patients initially denied it and only one patient agreed to meet with a psychiatrist. Only one-quarter had a job, the rest were unemployed or on sick leave. Many patients (61%) received medical treatment with anxiolytica. Ten patients (18%) had a psychiatric diagnosis. Among our 57 patients, 11 were deceased at the time of our study, but none because of suicide. Four had died before the age of 70, of whom two suffered from alcoholism and two had diabetes mellitus. Therapy should include an optimal nursing relationship with the patient so that social problems can be discussed. Psychological or psychiatric intervention appeared unhelpful because of patient denial.

Adolescent↗
PubMed1989

Self-injurious behavior as a habit and its treatment.

The definition of self-injurious behavior applies to persons who hurt or harm themselves without the motive of suicide or of sexual deviation. The different aspects of self-injurious behavior and the theories explaining them are reviewed. For 5 years a young, intelligent woman had inflicted injuries upon herself with sharp instruments while ostensibly caring for her face and legs. The short-term hypnobehavioral treatment included keeping daily reports of her self-inflicted injuries and of her thoughts while executing them, finding alternative activities to replace her habit, and practicing self-hypnosis once a day. Increasing the level of understanding of her inner conflict and accenting ways of breaking the habit by means of positive autosuggestion proved very effective. The treatment was successful after 13 sessions.

Adult↗