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PubMed1994

[Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases].

BACKGROUND: The hypoxanthine-guanine phosphoribosyltransferase deficiency (HGPRT) may have two clinical forms: that of the Lesch-Nyhan syndrome (complete HGPRT deficiency) and that of the Kelley-Seegmiller syndrome (partial HGPRT deficiency). The clinical and biochemical features of the HGPRT deficiency are not completely known. METHODS: A series of 12 patients, 8 with the Lesch-Nyhan syndrome and 4 with the Kelley-Seegmiller syndrome are described. The plasma and urine concentrations of hypoxanthine, xanthine and uric acid were compared with those obtained in 20 normal subjects and 41 patients with primary gout. The molecular defect which determines the deficient HGPRT activity was studied in one patient with the Kelley-Seegmiller syndrome. RESULTS: The 8 patients with the Lesch-Nyhan syndrome presented choreoathetosis, corticospinal motor system dysfunction, mental retardation and signs of self mutilation. The neurologic manifestations of the patients with the Kelley-Seegmiller syndrome were very heterogeneous: two patients had psychomotor retardation with spastic movement, one was mentally retarded with generalized dystonia and one patient only had gout with no neurologic manifestations. The erythrocytic HGPRT activity ranged between 0.28 and < 0.01 nmol/h and mg of hemoglobin in all the patients. Plasma and urine purine concentrations were very high, being greater than those in normal subjects and patients with gout (p < 0.01). A mutation was identified in exon 3 (substitution of guanine with thymine) conditioning the substitution of the normal glycine amino acid by valine (HGPRT Madrid) on molecular study. CONCLUSIONS: The hypoxanthine-guanine phosphoribosyltransferase deficiency has a heterogeneous clinical expression. The activity of this enzyme in erythrocytes and the results of the metabolism of the purines do not allow prediction of the severity of the clinical manifestations.

Adult↗
PubMed1994

[Life threatening embolism caused by central venous catheter fragments in psychiatric patients].

Central venous catheters are sometimes the cause of life-threatening complications. In two patients with underlying psychiatric disorders we observed an embolism as a result of catheter fragments. The first patient was a 30-year-old woman with a borderline personality disorder and several previous episodes of self-mutilation, psychogenic seizures and disturbances of consciousness. She cut her central venous line positioned in the external jugular vein when she was unattended. The intravasal fragment dislocated into the right ventricle and had to be removed by a forceps used for myocardial biopsies. The second patients was a 34-year-old mentally retarded male with a history of psychomotoric and grand mal seizures who suffered from a prolonged disturbance of consciousness with uncontrolled motor activity after four grand mal seizures. Despite physical restraint, the tip of his central venous catheter inserted through the subclavian vein broke and embolized in the right atrium. The embolus was removed by thoracotomy. To avoid these complications central venous lines should be used only when critically needed in uncooperative patients or those who display disturbance of consciousness and uncontrolled motor activity.

Adult↗
PubMed1993

[Penitentiary medicine and the Rights of Man].

Penitentiary medicine combines preventive medicine and treatment which are for the most part carried out in renovated structures. Other than the usual illnesses, these services and their personal are confronted with specific pathologies due to stress, tobacco consumption, insomnia, inactivity, distress, but also hunger strikes and self-mutilation. One particular concern is AIDS and its formidable complications, notably tuberculosis. The important role played by psychiatry and psychotherapeutic support in penitentiary medicine cannot be emphasized enough. Not only are many of the inmates alcoholics or drugs users, many of them are also starved for communication. The Ahens statement (1987), a true codicil of Human Rights, developed by the International Council of Penitentiary Medical Services, formally prohibits doctors to practice any form of torture or experimental medical operations on inmates, and puts medical priority above and beyond any administrative or judiciary considerations. This message is applicable to all prisons, regardless of countries: Europe, the Americas, Africa, Pacific or other. As President of the Council, we have distributed this message throughout the world, to all the various United Nations Agencies, thus teaching Human Rights, including prisoners' rights, in a concrete fashion.

France↗
PubMed1993

Train suicides in Brisbane, Australia, 1980-1986.

Train suicides have not been widely studied, but this mode of suicide is one which results in high mortality and disfigurement, considerable trauma to bereaved relatives, and often considerable psychological difficulties for those indirectly involved such as train drivers and onlookers. The placement of psychiatric hospitals close to railways and the advisability of erecting barriers have sometimes been hotly debated. This survey of 23 train suicides in Brisbane, Australia, addresses these issues. It shows that 57% of the victims had been treated for schizophrenia, and 57% were also psychiatric inpatients at the time of the incident. Forty eight percent of the deaths occurred close to the regional psychiatric hospital. Fifty two percent were young adults aged 15-29 years. All suicides occurred during daylight or within 2 h of sunset. These results are similar to those from another study in the same city which implicated schizophrenia in jumping from heights--also a grossly self-mutilating behavior. The erection of barriers to reduce mortality from train suicide was not considered a feasible solution for Brisbane, but other cities might benefit from such measures.

Adolescent↗
PubMedDate not supplied

[Epidemiologic research, disorders of eating behavior and addictive behavior].

The tremendous increase in interest in eating disorders, and especially in bulimia nervosa, that has occurred since the last 1970s has resulted in a large and contradictory literature about the relationships between eating disorders and addictive disorders, especially alcohol and drug abuse. At first sight, according to the differences observed between these disorders in most of their phenomenological characteristics (age, sex, socio-cultural factors), it may seem difficult to draw a parallel between them. However, studies showed that eating behavior problems, alcohol and drug abuse nowadays shared some common features in adolescents and young people. However that may be, epidemiological studies demonstrated a high prevalence of substance abuse among patients with bulimia. In anorexia nervosa, this prevalence seemed to be lower. However, significant differences have been observed between bulimic and restricting anorexics: substance abuse occurred significantly more frequently in bulimic anorexics than in restricting anorexics and this characteristic was associated with a higher prevalence of impulsive behaviors (i.e. stealing, self-mutilation and suicide attempt), laxative or diuretic use and impairments in social relationships. These clinical features are quite similar to those observed in bulimic patients with substance abuse problems. Follow-up studies also showed that substance abuse problems in anorexia nervosa were associated with the occurrence of bulimic behaviors. On the other hand, family studies reported that a high prevalence of patients with bulimia had at least one first degree relatives with substance abuse problems or an affective disorder. In anorexia nervosa, the prevalence of substance abuse or depression among the family members seemed to be higher in bulimic anorexics than in restricting anorexics.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMedDate not supplied

Constitutional interstitial deletion of 17(p11.2) (Smith-Magenis syndrome): a clinically recognizable microdeletion syndrome. Report of two cases and review of the literature.

We present two patients, a 12 year old Turkish and a 7 year old Italian girl, with severe mental retardation, multiple congenital malformations and a constitutional interstitial deletion of the short arm of chromosome 17, del(17) (11.2). The main clinical features of this syndrome which is also referred to as the Smith-Magenis syndrome consist of a broad flat midface with brachycephaly, broad nasal bridge, brachydactyly, speech delay, hoarse deep voice and peripheral neuropathy. Behavioural abnormalities include hypermotility, self mutilation and sleep disturbances. The remarkable consistency of the main clinical features of the 59 patients documented so far permits the clinical diagnosis of this syndrome; a fact which is of importance, since many of the reported patients--including ours--were considered normal on earlier cytogenetic studies.

Abnormalities, Multiple↗
PubMed1995

Incest and other intrafamilial sexual abuse.

This study describes eight female adolescents who were sexually abused in childhood. Four were victims of incest. The mean age of onset of sexual abuse was 9.8 years and except for one, all had multiple incidents. All were from the lower socioeconomic class. The majority had disorganised families. The reactions of the majority of the victims were fear, intense anger and self mutilation. All were separated from their families on disclosure of the abuse. A significant clinical sequela was that of suicidal tendency in all of them, six of whom attempted suicide repeatedly. Promiscuous behaviour at adolescence occurred in one victim of father-child incest. Lesbianism resulted in one other. None suffered from any formal psychiatric disorder.

Adolescent↗
PubMed1996

Predicting aggressive and socially disruptive behavior in a maximum security forensic psychiatric hospital.

The predictive utility of Hare, Hart, and Cox's Psychopathy Checklist Screening Version (PCL:SV) was assessed utilizing a sample of forensic psychiatric patients from Vernon State Hospital in Vernon, Texas. A sample of 55 patients were interviewed and rated on the PCL:SV. During a six month follow up, occurrences of self-harm (suicide attempts and self mutilation), aggression (verbal abuse and threats, irritability, belligerence, and fighting) escape potential (threats and attempts), and treatment refusal (medication, tests, and physician's appointments) were rated. Separate stepwise multiple regression analyses were performed utilizing patient's age, type of charges, documented history of alcohol/drug abuse and the PCL:SV as predictor variables. Results indicate that the PCL:SV is predictive of aggression and treatment noncompliance.

Adult↗
PubMed1997

[A case of hereditary sensory and autonomic neuropathy type IV diagnosed following the development of acute encephalopathy due to heat stroke].

A fourteen-month-old girl, who had shown remittent fever frequently from the neonatal period, hypohidrosis, frequent change of face color and self-mutilation of the 1st and 2nd fingers of both hands and tongue in the first months of her life, developed an acute encephalopathy with generalized tonic convulsion outdoors on a sunny hot day. Generalized tonic convulsion subsided within two days, but doll's eye phenomenon, loss of pupillary reaction to light, palpebral myoclonus, and ballismus of arms and legs followed L-dopa showed some effect on the ballismus 1 month after the attack. During the hospital stay, biopsy of sural nerve was performed. Morphometric and ultrastructural studies of the sural nerve demonstrated decreased numbers of unmyelinated and small myelinated fibers. Skin biopsy of the leg revealed sweat glands with no nerve terminals, axons and Schwann cells around them. She was diagnosed as having hereditary sensory and autonomic neuropathy type IV based on the histological and clinical findings. After discharge, bone fracture was found three times without any evidence of trauma. Acute encephalopathy, probably produced in relation to the underlying neuropathy, was considered to be due to heat stroke.

Acute Disease↗
PubMedDate not supplied

[The transsexualism syndrome: clinical aspects and therapeutic prospects].

The prevalence rate of transsexualism varies from 1 to 50,000, to 1 to 100,000. Although it remains an infrequent affliction, transsexualism generates usually major suffering and may be responsible of many complications like suicide, self-mutilations, affective disorders and social disabilities. Since the first descriptions of Esquirol in the nineteenth, the medical community has always been questioned on medical, legal, social or ethical aspects of transsexualism. The aetiology of the trouble is still unknown. In the absence of biological marker, the syndrome of transsexualism can be defined only with clinical criteria. The main differential diagnosis are sexual ambiguities and psychotic disorders. For the specialists, satisfying the patients demand of a surgical and social reassignment still remains the only way to improve their clinical condition and avoid the onset of many dramatic complications. Without any treatment, the evolution of the trouble is chronic, without remission. Longitudinal studies of transsexual patients with a five year follow-up demonstrated subjective improvement in two thirds of the patients and don't find either higher rates of suicides nor psychotic decompensations after surgery and hormonotherapy. Clinical and neuropsychological studies of sexually differentiated cognitive abilities of transsexual patients, before and after hormonotherapy, could allow us in improving the understanding of sexual differences of the brain.

Adaptation, Psychological↗
PubMed1998

Clinical disease associated with simian agent 8 infection in the baboon.

Simian agent 8 (SA8) is an alphaherpesvirus that was first reported as a spontaneous natural infection in a captive baboon colony in 1988. It was first isolated from an African vervet monkey in 1958 and was classified as a simian agent. Simian agent 8 was later isolated from a baboon rectal swab specimen in 1969 and from an oral lesion in a vervet monkey in 1972. Restriction endonuclease analysis was used to identify the virus as SA8. In a 1-year period, 70 baboons housed in two outside 6-acre breeding corrals developed lesions principally on the genitalia and oral cavity. The incidence was the same for males and females, with recurrence rate, severity of the lesions, and duration for the lesions to resolve being greater in the female baboons. Lesions involving the mouth, tongue, and lips were most commonly observed in the juvenile population. The lesions tended to start as small multiple papules or vesicles, which advanced to large pustular or ulcerative areas. Using an every-other-day treatment regimen consisting of Nolvasan cleaning and procaine penicillin G injections, it took an average of 14 to 21 days for the lesions to resolve totally. Thirty-seven percent of the baboons with herpetic lesions experienced another episode of SA8 infection, usually within 1 year of development of the primary lesion. Several complications have been documented to be associated with SA8 infections. Partial or total vaginal obstruction is most common, leading to impaired breeding performance and pyelonephritis. A vaginal corrective surgical procedure has been developed to allow these females to return to productive breeding status within the colony. Penile urethral obstruction, also causing pyelonephritis, was observed in the male baboons. A case of sciatic neuritis was reported in a baboon that presented with self mutilation of the foot; viral isolation revealed the etiologic agent to be SA8. Four female baboons with chronic SA8 infections went on to develop perineal neoplasms. This is an economically important disease entity in captive baboons because it causes severe morbidity, decreased reproductive performance, and ultimately death in 1% of the baboon colony each year. The baboon is a promising animal model in which to study genital herpes as it relates to disease in human beings.

Alphaherpesvirinae↗
PubMed1976

Apparent acaridal dermatitis in a C57BL/6 Nya mouse colony.

Dermatitis in a breeding colony of black (C57BL/6 Nya) mice was characterized by intense pruritus leading to self-mutilation and death. The cause appeared to be infestation with the mite, Myobia musculi. Ulceration of the skin resulted in exudation of serum proteins and exposure of the animals' immune defenses to microorganisms and irritants, with subsequent hyperplasia of regional lymph nodes and spleen. Affected mice had an increase in sessile plasma cells, serum immunoglobulin concentration, and percent of circulating granulocytes. The mites were eliminated by treatment with a dichlorvos-ronnel combination in liquid form, which was dispensed onto the bedding with an automatic syringe. The incidence of dermatitis was reduced to zero. Our experience with M musculi in two other strains of mice, both white, indicates that pathogenicity of this mite for mice varies according to the strain, sex, age, and individual differences in sensitivity of the mice as well as the mating ratios employed.

Animals↗
PubMed1998

Efficacy of clomipramine in the treatment of canine compulsive disorder.

OBJECTIVE: To assess the efficacy of clomipramine for treatment of canine compulsive disorder (CCD). DESIGN: Randomized, placebo-controlled, double-blind, balanced AB-BA crossover clinical study. ANIMALS: 51 dogs with CCD. PROCEDURES: Dogs were given clomipramine (3 mg/kg [1.3 mg/lb] of body weight, PO, q 12 h) for 4 weeks and placebo for 4 weeks. At the end of each treatment each owner rated the severity of their dog's behavior, using 2 validated rating scales. Statistical analysis was made by ordinal regression. Compliance, adverse effects, and the effectiveness of masking were also assessed. Each dog's behavior was reevaluated 1 to 2 years after completing the study. RESULTS: Behaviors included spinning (n = 17) and self-mutilation by licking (acral lick dermatitis, 12). Both rating scales demonstrated a treatment effect. Compliance was satisfactory, and masking was effective. Sedation and reduced appetite were reported more commonly when dogs were given clomipramine than when they were given placebo. Forty-five dogs available for follow-up evaluation still had their behaviors; 6 dogs were lost to follow-up evaluation. CLINICAL IMPLICATIONS: Results suggest that clomipramine was effective in dogs with CCD and was not associated with serious adverse effects. However, treatment for 4 weeks was not curative. Behavior modification is likely to be necessary to manage CCD.

Animals↗
PubMed1998

[Physiopathology of neurological signs of hypoxanthine-guanine phosphoribosyltransferase deficiency].

OBJECTIVE: Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is characterized by an increase in renal uric acid excretion, usually with hyperuricemia and may be associated with more or less important neurological symptoms. Based on a series of 20 patients from 16 Spanish families we propose that HPRT deficiency could be clinically classified in four different groups. In the more severe form (classic Lesch-Nyhan syndrome) HPRT deficiency is characterized by choreoathetosis, spasticity, mental retardation and compulsive self-mutilation behavior. The pathophysiology of the neurological symptoms remains unclear and there is no effective therapy. This review is intended to provide a research strategy for a better knowledge of the neurological pathophysiology of HPRT deficiency. DEVELOPMENT: We have analyzed the knowledge on the neurological symptoms of HPRT deficiency. This knowledge comes from histopathological studies of the brains from Lesch-Nyhan patients, chemical studies of the cerebrospinal fluid, experimental animal models (pharmacologic and lesioning and genetic approaches), and human in vivo studies with positron-emission tomography. CONCLUSIONS: The observed findings suggest that the neurological symptoms of Lesch-Nyhan syndrome could be related with the neonatal neuronal and/or dopaminergic terminations damage. This damage could be due to lost or reorganization of dopaminergic system, and is associated with a reduced dopamine levels and with hypersensitivity of the D1 subclass dopamine receptors.

Brain Diseases↗
PubMedDate not supplied

Self-inflicted patient burns: suicide versus mutilation.

Though suicide by burning is well-described, little information is available regarding patients who mutilate themselves by burning without suicidal intent. We reviewed 31 patients admitted from 1980 to 1991 with self-inflicted burns to describe differences between self-mutilation and attempted suicide (AS). In 16 patients who had mutilated themselves, mean burn size was 1.6% TBSA (range 0.3% to 9.0% TBSA) compared with 35.4% TBSA in the 15 patients who had attempted suicide (range 11.5% to 90% TBSA; p < 0.0001). Twelve of 15 patients who had attempted suicide used flammable liquids for self-immolation, whereas patients who had mutilated themselves often used techniques that they could control, including scalding, chemicals, and contact injuries. Most patients in both groups and previous histories of psychiatric disorders. Self-mutilators had a high incidence of personality disorders (56%), whereas the AS group more frequently suffered from depression (47%). Nine (56%) patients who had mutilated themselves had previous self-inflicted burns, compared with only one patient in the AS group. Mean lengths of stay, number of surgeries, and hospital and physician charges were higher for the AS group. Case examples of both types of injuries are presented. Burn care professionals should be familiar with syndrome of self-mutilation by burning. Patients often present with puzzling injuries and require psychiatric treatment in addition to burn care.

Adult↗