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At least 73 records · Page 4Linked to original sources
PubMed1979

Effects of L-5-hydroxytryptophan on monoamine and amino acids turnover in the Lesch-Nyhan syndrome.

In a patient with the Lesch-Nyhan syndrome we found decreased spinal fluid 5-hydroxyindole acetic acid (5-HIAA), the major metabolite of serotonin, and decreased homovanillic acid (HVA), the major metabolite of dopamine, indicating a decrease in monoamine metabolism. Administration of 5-hydroxytryptophan and carbidopa produced an increase in spinal fluid 5-HIAA, indicating that it might be possible to correct the serotonin deficiency in this syndrome, but there were no changes in the marked mental retardation and neurological deficits. Self-mutilation appeared to be suppressed by therapy but the effectiveness of the drugs decreased with time. There were also changes in the spinal fluid concentration of amino acids that might affect brain protein synthesis. These changes were corrected during administration of 5-hydroxytryptophan and carbidopa.

5-Hydroxytryptophan↗
PubMed1976

Behavior in the Lesch--Nyhan syndrome.

The Lesch--Nyhan syndrome is a heritable disorder of the metabolism of uric acid in which behavioral manifestations are prominent and among the most provocative. The mutated or variant gene that determines this disorder is carried on the X chromosome. The disease is expressed exclusively in males. The molecular expression of the abnormal gene is in the completely defective activity of the enzyme hypoxanthine guanine phosphoribosyl transferase. As a result these patients overproduce uric acid and may develop early in life many of the clinical findings we associate with gout. They have in addition a variety of neurological abnormalities including mental retardation, spastic cerebral palsy, and involuntary, choreoathetoid movements. Involved patients have unusual, compulsive, aggressive behavior. Its most prominent but by no means exclusive feature is self-mutilation. The central feature in the management of this behavior is physical restraint. A number of practical procedures have been learned which facilitate the care and feeding of these patients. Promising new findings suggest that behavioral modification using extinction techniques and pharmacologic methods utilizing agents designed to increase the effective cerebral content of serotonin may each have a place in the management of behavior in this syndrome.

5-Hydroxytryptophan↗
PubMed1992

Effects of acute dopamine depletion on responsiveness to D1 and D2 receptor agonists in infant and weanling rat pups.

The behavioral responses to separate and combined administration of the D1 agonist SKF-38393 and the D2 agonist quinpirole following acute dopamine (DA) depletion via alpha-methyl-p-tyrosine (AMPT) or AMPT/reserpine were examined in infant (10-day-old) and weanling (21-day-old) rat pups. At both ages, AMPT pretreatment generally had little impact on D1- or D2-agonist-induced responding, whereas the greater DA depletion observed following AMPT/reserpine pretreatment was generally associated with suppression of both D1 and D2-agonist-typical responding. Thus, whereas in adult animals some degree of D1 receptor activation by endogenous dopamine appears to be necessary for D2 responding but not vice versa (e.g. White et al. 1988), in young animals there appears to be a reciprocal co-dependence of these two receptor subtypes, with extensive DA depletion suppressing responding to both agonists when administered separately. At 10 days of age, some D1 and D2 agonist-induced behaviors that were previously blocked by AMPT/reserpine were reinstated following combined administration of both agonists. In contrast, no clear evidence for reinstatement was seen following administration of the combined agonists to AMPT/reserpine-pretreated weanlings, perhaps due to the induction of potential competing behaviors. Whereas DA depletion blocked many D1- and D2-induced behaviors, such depletion conversely promoted the expression in agonist-treated animals of a number of behaviors that were not normally induced by the agonists in non-depleted animals. These behaviors typically involved an oral component and included grooming and mouthing following SKF-38393 in depleted 10-day-old pups, mouthing following administration of either agonist to depleted weanlings, and probing and intense self-mutilation (forepaw and tongue biting) following the combined agonists in depleted weanlings. This rapid induction of potentiated agonist responsiveness following acute DA depletion early in life may have significant implications with regard to animal models for the developmental disorder of Lesch-Nyhan syndrome.

2,3,4,5-Tetrahydro-7,8-dihydroxy-1-phenyl-1H-3-ben↗
PubMed1976

Effect of cold stress on rapeseed oil fed rats.

No mortality was observed in 6 week old male Sprague-Dawley rats subjected to cold at 4 C for 3 weeks and fed either a control diet (Chow) or a semisynthetic diet containing 20% by wt rapeseed oil high in erucic acid (23.6%). All rats fed the Chow diet and 17 of 20 rats fed the rapeseed oil-containing diet survived 4 weeks in the same environment. Three rats on the latter diet died of self-mutilation. Marked myocardial lipidosis as well as a large acumulation of 20:1 and 22:1 was observed in the hearts of rats fed the rapeseed oil-containing diet. Five of 20 rats on the Chow diet and 2 of 20 rats on the rapeseed oil-containing diet had focal necrotic areas in the myocardium.

Animals↗
PubMed1992

Dental and oral findings in patients with familial dysautonomia.

Familial dysautonomia is an inherited autosomal recessive disease found almost exclusively in Ashkenazi Jews. It is characterized by selective damage to the sensory, motor, and autonomic peripheral nervous system. The main clinical features include decreased pain sensation, impaired temperature and blood pressure regulation, lack of tearing, absent tendon reflexes, and fungiform papillae on the tongue. The purpose of this study was to explore in depth and to verify the oral and dental status in familial dysautonomia. Twenty-two patients and 44 match-paired healthy persons of Ashkenazi descent were examined. Patients and parents had only little concern for their oral condition. Caries prevalence was lower than normal and plaque accumulation increased in all patients. Dental trauma was found in 59% of the patients, and 32% showed orodental self-mutilation. Dental age was within normal range, and dental arch measurements implied proportionally small jaws and little crowding. The low caries rate may be related to the known "hypersalivation" in familial dysautonomia and/or a possible change in the salivary composition and content, caused by chronic autonomic denervation.

Adolescent↗
PubMed1979

Effects of food deprivation on etonitazene consumption in rats.

One group of free-feeding rats was given a 5 microgram/ml etonitazene HCl solution as their sole liquid. This group increased their drug intake by 100% when they were partially food-deprived during a 23-day period. Another group that remained food-satiated and received etonitazene for an equal number of days did not show similar increases in drug intake. However, this group drank greater volumes of the etonitazene solution than a food-satiated control group drank of water. These results are contrasted with a fourth group showing a 50% decrement in water intake during similar food-deprived conditions. The food-deprived group drinking etonitazene showed highly erratic drinking patterns compared to all the other groups. Daily liquid intake ranged from 30 to 250 ml in this group, and volumes oscillated from high to low on alternating days. When the food-deprived/food-satiated conditions were replicated in this experimental group, corresponding increases and decreases in drinking reliably occurred. However, during the second food-deprived phase, the large increases occurred almost immediately as contrasted with a gradual increase over 17 days during the first food-deprived phase. This would suggest a learning mechanism may be involved. Self-mutilation and other forms of stereotypy were noted only in food-deprived rats consuming etonitazene.

Animals↗
PubMed1992

Relationship between autotomy behaviour and spinal cord monoaminergic levels in rats.

In the rat, unilateral neurectomy of the sciatic and saphenous nerves causes autotomy, a self-mutilation behaviour, against the denervated limb that is variable in both its onset and severity. To study some of the possible neurochemical sources of this variability, spinal cord levels of norepinephrine (NE), dopamine (DA), serotonin (5-HT0 and 5-hydroxyindoleacetic acid (5-HIAA) were analysed ipsi- and contralateral to the lesioned side by high performance liquid chromatography at C5-T1 and L1-S1. According to the early or late onset and to the slight or intense autotomy behaviour, the animals were assigned to four different groups: early autotomy, early no autotomy, late autotomy, and late no autotomy. Two sham-operated groups were sacrificed at an early or late stage in the postoperative period. The spinal cord NE content remained unchanged throughout the different experimental situations. The more conspicuous changes observed were: (1) a generalized increase in spinal 5-HT metabolism in all deafferented groups; (2) a significant and selective increase in lumbosacral 5-HT and 5-HIAA levels of the rats that did not self-lesion for 8 weeks after deafferentation and (3) a significant fall (30-45%) in DA levels at denervated spinal segments of the rats that actively self-attacked late in the postoperative period. The data suggests that spinal cord serotonergic and dopaminergic influences play an important role in determining the susceptibility to autotomy (and perhaps chronic pain) after peripheral deafferentation.

Animals↗
PubMed1978

Further observations on the use of 5-hydroxytryptophan in a child with Lesch-Nyhan syndrome.

The effects of 5-hydroxytryptophan (5-HTP), a serotonin precursor, and carbidopa, a peripheral aromatic amino acid decarboxylase inhibitor, were studied in a boy with the Lesch-Nyhan syndrome. No effects on the self-mutilating behaviors of this disorder were noted. However, sleep patterns were normalized, with a reduction in the proportionate amounts of wakefulness and an augmentation of active sleep. A sharp reduction in waking behavioral dyskinesias was also correlated to increased drug dosage.

5-Hydroxytryptophan↗
PubMed1976

The effect of L-5-hydroxytryptophan on self-mutilatin in Lesch-Nyhan disease: a negative report.

Four patients with Lesch-Nyhan disease were treated with L-5-hydroxytryptophan, alone, or in combination with carbidopa, and their effect on self-mutilatory behavior was compared to that observed during periods in which placebo was administered. Observation periods were carefully standardized because of the ease with which patient-observer interactions can influence the behavior of the Lesch-Nyhan patient. The dosage level was sufficient to produce undesirable side-effects (diarrhea and vomiting). No effect on self-mutilation was observed under test conditions in the hospital or in the natural environment of the home. These results contrast with previous beneficial effects reported by others.

5-Hydroxytryptophan↗
PubMed1992

Congenital sensory neuropathy with anhidrosis (hereditary sensory neuropathy type IV).

Hereditary sensory neuropathies comprise a group of rare childhood diseases which are classified into four types. We present a Greek boy 11 years old with hereditary sensory neuropathy type IV (congenital sensory neuropathy with anhidrosis) whom we have followed up and studied during the last seven years. Our patient presented for the first time with recurrent hyperthermic episodes without sweating, and lack of pain sensation from the first months of life. Insensitivity to pain and thermal stimuli had resulted in burns on the extremities and self-mutilation of the tongue, lips and fingertips. When he was five and seven years old respectively he had two painless fractures of the ankles which led to insoluble orthopedic problems. He also suffered from mental retardation, which was obvious from his first years of life. Sweat gland investigations showed significant hypohidrosis or anhidrosis although the sweat glands were normal microscopically. Hereditary sensory neuropathy type IV, although rare, is important for dermatologists because it must be differentiated from other anhidrotic syndromes, and in view of the poor prognosis of the condition.

Child, Preschool↗
PubMed1978

Auto-mutilation in animals and its relevance to self-injury in man.

Self-mutilation in non-human mammals is a well-established, although not a widely known phenomenon, which has been reported under zoo and laboratory conditions. In macaque monkeys, laboratory rearing and isolation are important predisposing factors, and the more serious self-injury is initiated by some immediate stimulating event. It is commonly accompanied by behaviour normally shown by the animal in a fighting context. Lower mammals are also known to mutilate themselves under laboratory conditions after administration of drugs wich probably cause increased sympathetic activity. The implications of this behaviour for an understanding of states of self-injury in man are discussed.

Aggression↗
PubMed1978

Self-destructive behavior in battered children.

Fifty-nine physically abused children demonstrated a significantly higher incidence of self-destructive behavior than two control groups of nonabused children, one neglected and one normal. The self-destructive behavior, including suicide attempts and self-mutilation, was potentiated by interrelated variables operating in the abused child and his environment. Often enhanced by the ego deficits and impaired impulse control of the abused children, this behavior seemed to represent a learned pattern originating in early traumatic experiences with hostile primary objects.

Adolescent↗
PubMed1979

Violence associated with phencyclidine abuse.

Violence associated with chronic phencyclidine (PCP) abuse was investigated by administering a structured interview to 16 chronic PCP abusers. A more intensive study was done of another individual who committed murder and self-mutilation under the influence of PCP. The results suggest that there is no consistent association between PCP-related violence and a history of violence not related to drug or alcohol abuse. The author defines four types of violence associated with chronic PCP abuse.

Adult↗
PubMed1979

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↗
PubMed1975

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↗
PubMed1978

[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↗
PubMed1978

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↗
PubMed1978

Ataxia and disorders of purine metabolism: defects in hypoxanthine guanine phosphoribosyl transferase and clinical ataxia.

A relationship between disordered metabolism of purines and the central nervous system has been established by the Lesch-Nyhan syndrome. In this disorder a virtually complete defect in the activity of HGPRT is associated with a syndrome of severe mental retardation, choreoathetoid cerebral palsy, and bizarre, self-mutilative behavior. In patients with partial defects in HGPRT, two have had symptoms that have been labeled spinocerebellar. Neither were appreciably ataxic, and the relationship between the symptoms and the enzyme defect remains to be established. Analysis of HGPRT in members of a large kindred with spinocerebellar degeneration revealed normal levels of the enzyme. These observations suggest that a relationship between the activity of HGPRT and clinical ataxia is remote.

Ataxia↗