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Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome.

The patient, H.Chr.B., was among the first reported with hyperuricemia and central nervous system symptoms. He has been found to have a variant of hypoxanthine guanine phosphoribosyl transferase (HPRT; E.C.2.4.2.8) distinct from the enzyme present in patients with the Lesch-Nyhan syndrome. The patient had chroeoathetosis, spasticity, dysarthric speech, and hyperuricemia. However, his intelligence was normal and he had no evidence of self-mutilation. There was no activity of HPRT in the lysates of erythrocytes and cultured fibroblasts when analyzed in the usual manner. Using a newly developed method for the study of purine metabolism in intact cultured cells, this patient was found to metabolize some 9% of 8-14C-hypoxanthine, and 90% of the isotope utilized was converted to adenine and guanine nucleotides. In contrast, cells from patients with the Lesch-Nyhan syndrome were virtually completely unable to convert hypoxanthine to nucleotides. The patient's fibroblasts were even more efficient in the metabolism of 8-14C-guanine, which was utilized to the extent of 27%, over 80% of which was converted to guanine and adenine nucleotides. The growth of the cultured fibroblasts of this patient was intermediate in media containing hypoxanthine aminopterin thymidine (HAT), whereas the growth of Lesch-Nyhan cells was inhibited and normal cells grew normally. Similarly in 8-azaguanine, 6-thioguanine, and 8-azahypoxanthine, the growth of the patient's cells was intermediate between normal and Lesch-Nyhan cells. These observations provide further evidence for genetic heterogeneity among patients with disorders in purine metabolism involving the HPRT gene. They document that this famous patient did not have the Lesch-Nyhan syndrome.

Adenine↗

Genital self-amputation and the Klingsor syndrome.

Two psychotic individuals, who performed acts of genital self-amputation, are presented. One of the patients had self-mutilated with the intention of suicide and had also in the past amputated his hand. Psychotic patients with delusions (often religious), sexual conflict associated with guilt, past suicide attempts or other self-destructive behaviour and depression, severe childhood deprivation, and major premorbid personality disorder, are the group at risk for genital self-amputation. It has been proposed that the eponym, the "Klingsor" syndrome, be applied only to acts of genital self-mutation, involving religious delusions. The author suggests that this syndrome should be expanded to include all cases of genital self-mutation resulting from a psychotic illness.

Abdominal Injuries↗

Using a socio-historical frame to analyse aboriginal self-destructive behaviour.

The last two decades have seen rapid changes in many facets of Aboriginal society, including morbidity and mortality. The same period has witnessed a dramatic increase in writing about and by Aborigines and this has necessitated a re-examination of the national "history" to include the indigenous people of Australia. Medical workers in Aboriginal Australia should be alert to the historical forces determining patterns of ill-health. Psychiatry in particular must develop this perspective if it is to participate with Aborigines in addressing emergent patterns of behavioural distress including suicide, parasuicide, ludic behaviour and self-mutilation. This paper demonstrates the importance of the socio-historical frame in the examination of these behaviours from one discrete region in isolated Aboriginal Australia: the Kimberley.

Adult↗

Psychological factors leading to amputations in adults.

Psychological factors may lead to a small number of amputations in adults. They may be classified as being due to: 1. chronic pain syndrome; 2. artefactualists; 3. self-mutilation; 4. attempted murder. An understanding of these potential factors will make the amputee clinic team aware of this problem, and help them deal with the rehabilitation of the patient.

Adult↗

Innovar-Vet-induced pathologic changes in the guinea pig.

High doses of Innovar-Vet administered im induced pathologic changes in tissues at the site of drug deposition. The onset and extent of the changes were dose related. Distal self-mutilation occurred coincidentally to the peak of pathologic changes in the ischiatic nerve.

Anesthesia↗

The Lesch-Nyhan syndrome--an under-recognised condition in South Africa? A case report.

The Lesch-Nyhan syndrome is a rare inborn error of purine metabolism caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT), which results in mental retardation with characteristic self-mutilation, spasticity, extrapyramidal signs and hyperuricaemia. The clinical and biochemical findings in an 18-month-old boy, who presented with renal calculi and was shown to have less than 1% of normal HGPRT activity, are reported. The obvious neurological abnormalities had previously been thought to be due to hypoxic-ischaemic encephalopathy. The expected incidence of this disease is much higher than the known number of cases diagnosed.

Athetosis↗

The cutaneous manifestations of violence and poverty.

BACKGROUND: Violence is a public health issue that disproportionately affects the poor. Homelessness, drug abuse, and physical violence are seen with increasing frequency in poor communities. This article reviews the cutaneous manifestations of violence and the dermatologic problems commonly seen in the homeless. Particular emphasis is placed on the experience of municipal hospitals serving the urban poor. OBSERVATIONS: Dermatologic diseases are common in the homeless, and foot-related problems such as cellulitis and pyodermas are frequent causes of hospitalization. Unusual patterns of scarring and bruises in different stages of healing are seen in victims of physical violence. Trauma and sexually transmitted diseases result from sexual abuse. Serious skin infection and self-mutilating scarring are seen in intravenous drug abusers. CONCLUSION: Dermatologists are able to diagnose and treat the many skin problems seen in the poor and to identify the physical manifestations of abuse during routine skin examination. Findings of violence should be documented and reported to the appropriate investigational agencies.

Humans↗

Strain differences in autotomy in rats undergoing sciatic nerve transection or repair.

The degree of self-mutilation (autotomy) following sciatic nerve injury was assessed in 6 rat strains. Experimental groups included sciatic nerve transection with and without repair and crush lesions. The degree of autotomy was measured using a standard grading system. There were statistically significant differences between the strains in the transected group in terms of both degree of autotomy and the time of onset of its appearance. The repair group showed a shorter mean time of onset, lower maximal scores, and lower percentage of affected animals. Autotomy was absent in the nerve crush group and in all Lewis rats. In experimental studies when the status of the foot is critical (e.g., to evaluate functional walking patterns) Lewis rats appear to be the most appropriate strain to utilize. These results suggest that there are definite strain differences in the degree of autotomy following nerve transection or repair.

Animals↗

Orthopaedic manifestations in congenitally insensate patients.

The spectrum of orthopaedic problems in eight congenitally insensate patients was reviewed. The conditions included congenital insensitivity to pain, Riley-Day syndrome, and Lesch-Nyhan syndrome. In each of these conditions, the patient has an abnormality of interpretation of painful stimuli or lacks normal pain avoidance, leading to self-inflicted damage. The orthopaedic problems and complications included fracture, self-mutilation, autoamputation, osteomyelitis, septic arthritis, Charcot joints, scoliosis, and dislocation. Effective management consists of early diagnosis and patient/parent education to prevent as many complications as possible. Fractures may be treated conservatively, while progressive scoliosis requires operative intervention. Osteomyelitis, septic arthritis, and Charcot joints require appropriate operative treatment.

Adolescent↗

Adolescent dress, Part I: Dress and body markings of psychiatric outpatients and inpatients.

This paper investigated the dress and body markings of 100 adolescent psychiatric patients (both hospitalized and never-hospitalized). Data were obtained from in-depth interviews conducted by a child psychiatrist. In contrast to nonhospitalized patients, hospitalized patients had a higher incidence of self-scarring, i.e., marks applied to self, either as a self-mutilation/suicide gesture or serving another purpose (for example, carving a boyfriend's initials into one's arm). Other individual expressions of appearance did not differentiate hospitalized from nonhospitalized patients. Detailed dress and appearance observations, questionnaires, photo reviews, self-portraits, and family discussions contributed to the beneficial effect of psychotherapy by focusing on feelings evoked and symbolized in dress and body markings.

Adolescent↗

Prevalence and correlates of cutting behavior: risk for HIV transmission.

The prevalence of cutting behavior among a population of 76 psychiatrically hospitalized adolescents was found to be 61.2%. The frequency ranged from a single occasion to over 50 instances, with a mean of 9.9 occasions. Increased self-mutilation was not found to be associated with gender, age, ethnicity, or primary psychiatric diagnosis. A significant association was identified between adolescents who report forced sex and those who report cutting behavior. Approximately 26.7% of those reporting this behavior also report sharing cutting implements with other adolescents. This article raises concern about this behavior as it relates to the transmission of human immunodeficiency virus and makes recommendations for clinicians treating this population.

Adolescent↗

Multiple personality and forensic issues.

As clinicians become more sophisticated regarding MPD, we can expect many more cases to come to the court's attention, especially among violent offenders. This is because violence and MPD have very similar origins in early extraordinary physical and sexual abuse. As offenders become more knowledgeable, we can also expect to encounter more and better malingering. At this time, however, we are far more likely to overlook the problem than we are to overdiagnose it. Why is it that MPD is recognized so infrequently in the offender population? Probably because so many of its characteristics are similar to the symptoms associated with antisocial personality. For example, amnesia for behaviors is dismissed as lying, fugue states appear to be attempts to evade justice; finding things in one's possession looks like stealing; self-mutilation and suicide attempts seem manipulative; and the use of different names at different times and in different circumstances is interpreted as the conscious use of aliases in order to evade the law. Even the dramatic, at times heart-wrenching emotional catharses relating to abuse revealed during hypnosis are so painful that the average person has difficulty accepting that they happened and, therefore, dismisses them as exaggeration or total fabrication. Most often, the diagnosis is missed because the clinician does not even consider it a possibility. In this article we have reviewed some of the ways in which courts have approached the issue of MPD and some of the problems specific to its diagnosis in forensic settings. The clinician must keep in mind that in cases in which issues of mental illness are raised, the law reflects that which it is taught by alleged experts. The case law on multiple personality is still sparse, leaving much room for new data and new interpretations of these data. The current tendency to treat each alternate as though it were a whole and responsible individual as opposed to an imaginary construct, a symptom of a mental illness, reflects the confusion among clinicians as well as attorneys regarding the phenomenon of MPD. As we continue to learn more about the disorder and its forensic implications, we must be careful to avoid presenting to the court clinical impression as fact or mythology as truth.

Diagnosis, Differential↗

Pharmacological evaluation of SCH-12679: evidence for an in vivo antagonism of D1-dopamine receptors.

The benzazepine compound SCH-12679 has been shown to have clinical efficacy against aggressive behavior in mentally deficient patients. The purpose of the present investigation was to evaluate the potential mechanism of action of SCH-12679. Because of the structural similarity of SCH-12679 to compounds influencing D1-dopamine receptors, even though in vitro studies indicated no direct action on this receptor, investigations focused on the possibility that in vivo SCH-12679 antagonizes the function of this dopamine receptor subtype. After i.p. administration to neonatal-6-hydroxydopamine (6-OHDA)-lesioned rats, SCH-12679 reduced, dose-dependently, the locomotor activity induced by SKF-38393, a D1-dopamine agonist. A dose of SCH-12679 that antagonized the activity induced by SKF-38393 in neonatally lesioned rats also blocked various behaviors observed after administration of this D1-dopamine agonist. SCH-12679 did not alter the activity or behavioral responses induced by quinpirole, a D2-dopamine agonist, when administered to 6-OHDA-lesioned rats. SCH-12679 antagonized the self-mutilation behavior and behavioral responses induced by L-dihydroxyphenylalanine in neonatal-6-OHDA lesioned rats in a manner similar to the prototypic D1-dopamine antagonist SCH-23390 and, like SCH-23390, produced a deficit in avoidance responding in unlesioned rats. SCH-12679 produced a small, transient activation of locomotor activity immediately after administration to neonatal-6-OHDA-lesioned rats that was not observed in unlesioned or adult-6-OHDA-lesioned rats.(ABSTRACT TRUNCATED AT 250 WORDS)

2,3,4,5-Tetrahydro-7,8-dihydroxy-1-phenyl-1H-3-ben↗

Heterozygous expression of Lesch-Nyhan syndrome clinical and ultrastructural studies.

The study comprised two cases (male & female sibs) from one family, with Lesch-Nyhan Syndrome. They were subjected to clinical evaluation, pedigree construction, uric acid estimation in blood, urates in urine, metabolic screening of blood and urine for amino acids, examination of oral cavity, histological studies of the gingiva by light and electron microscopy as well as buccal smear for Barr & Y bodies (for the female). The proband, a six years old female presented with self-mutilation, mental retardation, hyperactivity and aggression. She had bitten her index finger causing amputation of its distal phalanx. On family study her younger brother (9 months) was found to have increased uric acid and less severe neurologic involvement. The serum uric acid level of the affected female was higher. Her Barr body showed normal pattern. Oral cavity examination showed no abnormalities. Histological examination of the gingiva showed macrophages around the blood vessels. Ultrastructural studies showed more or less normal epithelium. There was collection of macrophages around the blood vessels in the sub-epithelial layer, the cytoplasm of these macrophages contained stippled cytoplasmic inclusions. The surrounding connective tissue showed thin collagen fibers with sharp delineation between the epithelial and connective tissue layers indicating poor quality of collagen. There was no histological difference between the hemizygous male and the heterozygous female. The present study indicates heterozygous expression of Lesch-Nyhan Syndrome at both the clinical and the ultrastructural levels in favour of extreme lyonization or X-chromosome deletion in the affected female. Our findings also indicate that ultrastructural studies could be sensitive indicators of abnormal uric acid metabolism. Further studies are needed to compare the phenotypic expression of hemizygotes and heterozygotes with Lesch-Nyhan Syndrome at both the clinical and ultrastructural levels.

Child↗

A severe form of breakdown in communication in the psychoanalysis of an ill adolescent.

The paper focuses on a particularly severe kind of breakdown in communication that can arise in the psychoanalysis of ill adolescents who have experienced a real breakdown in functioning, such as a severe suicide attempt or one or more psychotic breakdowns. Clinical material is presented from the analysis of a suicidal and self-mutilating adolescent as an illustration of the theme. Included is a discussion of different types of breakdown in communication.

Adolescent↗

[Factitious purpura].

Three identical case histories consisting of circular delimited petechial purpura around the mouth and chin in children aged 13-15 years are presented. This form of purpura was undoubtedly due to self-mutilation by establishing of a vacuum over the skin produced by a tumbler from which the air had been partially aspirated. This is regarded as a symptom of hysterical conversion on account of stressing conditions at home or in school. Strategies for making the patient and the parents aware of the causal connection and the possibilities for intervention are mentioned.

Adolescent↗

[Spectacles for dogs and cats (author's transl)].

Indications for using spectacles in dogs and cats are reviewed. These indications are classified into the following categories: (1) correction of visual acuity, (2) protection against external irritants such as ultraviolet rays and wind, (3) prevention of self-mutilation and (4) psychological reasons. The only justifiable indications for the use of spectacles or sun-glasses in dogs or cats consist in the treatment or prevention of some ophthalmic disorders.

Animals↗

Youth in crisis: dimensions of self-destructive conduct among adolescent prisoners.

Self-mutilation and attempted suidcide among adolescent prisoners are explored in relation to concrete coping tests posed in prison and to self-esteem problems posed by failure of external (family) and internal (peer) support systems. Crisis sequences are traced using verbatim excerpts from interviews with self-destructive prisoners and conceptualized in terms of enduring adolescent needs and concerns. Some general observations regarding strategies of intervention with crisisprone prisoners are included.

Adjustment Disorders↗