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Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.

Hypoxanthine-guanine phosphoribosyltransferase is virtually inactive in erythrocytes from patients with the classical Lesch-Nyhan syndrome. In one such patient, activity of this enzyme ranged from 8 to 34 percent of normal in erythrocytes when assayed with a very high concentration of magnesium 5-phosphoribosyl-1-pyrophosphate. In addition, the mutant enzyme exhibited sigmoidal kinetics with this substrate as well as an increased Michaelis constant for both guanine and hypoxanthine. These findings provide the first evidence for genetic heterogeneity within the group of patients with the Lesch-Nyhan syndrome.

Athetosis↗

The hallucinations of widowhood.

227 widows and 66 widowers were interviewed to determine the extent to which they had hallucinatory experiences of their dead spouse. The people interviewed formed 80.7% of all widowed people resident within a defined area, in mid-Wales, and 94.2% of those suitable, through the absence of incapacitating illness, for interview.Almost half the people interviewed had hallucinations or illusions of the dead spouse. The proportion of men and women who had these experiences was similar. The hallucinations often lasted many years but were most common during the first 10 years of widowhood. Social isolation did not affect the incidence of hallucination, nor was it related to the incidence of known depressive illness. There was no variation within cultural groups and there was no variation with place of residence, whether this was within town, country, or village, or within England and Wales.Young people were less likely to be hallucinated than those widowed after the age of 40. The incidence of hallucination increased with length of marriage and was particularly associated with a happy marriage and parenthood. Members of the "professional and managerial" group were particularly likely to be hallucinated, while widows of "non-manual and sales workers" were the ones least likely to be hallucinated. The incidence was greater with hysteroid than obsessoid people. It was unusual for the hallucinations to have been disclosed, even to close friends or relatives.These hallucinations are considered to be normal and helpful accompaniments of widowhood.

Adult↗

Beneficial effects of jejeunoileostomy on compulsive eating and associated psychiatric symptoms.

During a study of 72 patients submitted to jejeunoileostomy for obesity seven were found in whom compulsive, episodic overeating was associated with depressive mood disturbance. When followed up nine to 27 months after operation all seven had lost weight and had also lost the habit of compulsive eating. In all cases psychiatric symptoms improved or disappeared, and symptom substitution was not observed. Obesity rather than psychiatric disorder is usually the main problem in such patients. The implications for psychoanalytic and other concepts of obesity are discussed.

Adult↗

Cannabinoid hyperemesis: cyclical hyperemesis in association with chronic cannabis abuse.

BACKGROUND AND AIMS: To explore the association between chronic cannabis abuse and a cyclical vomiting illness that presented in a series of cases in South Australia. METHODS: Nineteen patients were identified with chronic cannabis abuse and a cyclical vomiting illness. For legal and ethical reasons, all patients were counselled to cease all cannabis abuse. Follow up was provided with serial urine drug screen analysis and regular clinical consultation to chart the clinical course. Of the 19 patients, five refused consent and were lost to follow up and five were excluded on the basis of confounders. The remaining nine cases are presented here and compared with a published case of psychogenic vomiting. RESULTS: In all cases, including the published case, chronic cannabis abuse predated the onset of the cyclical vomiting illness. Cessation of cannabis abuse led to cessation of the cyclical vomiting illness in seven cases. Three cases, including the published case, did not abstain and continued to have recurrent episodes of vomiting. Three cases rechallenged themselves after a period of abstinence and suffered a return to illness. Two of these cases abstained again, and became and remain well. The third case did not and remains ill. A novel finding was that nine of the 10 patients, including the previously published case, displayed an abnormal washing behaviour during episodes of active illness. CONCLUSIONS: We conclude that chronic cannabis abuse was the cause of the cyclical vomiting illness in all cases, including the previously described case of psychogenic vomiting.

Adolescent↗

A clinical study of Gilles de la Tourette syndrome in the United Kingdom.

The clinical features of 53 British-born patients with Gilles de la Tourette syndrome are described. The mean age at onset of body tics was seven years and for vocalisations 11 years. Coprolalia was present in 39%, copropraxia in 21%, echolalia in 46% and echopraxia in 21%. Complicated antics and mannerisms were also common, often involving the compulsive touching of objects or self-injurious behaviour. Forty-six per cent of cases had a family history of tics in a single close relative and in two individuals a further member of the family had Gilles de la Tourette syndrome. Focal dystonia was present in four patients who had never received neuroleptics drugs and chorea was seen in two other untreated patients. In three patients acoustic startle consistently induced brief eye blink followed by a whole body jerk or jump. Rapid repetitive movements of the hands increased the frequency and severity of tics in 13 patients, but the performance of mental arithmetic under time pressure had a much more unpredictable effect. Electroencephalographic abnormalities occurred in eight (13%) but no definite CT brain scan abnormalities were detected. The incidence of left handedness did not differ from that in the general population and no evidence to suggest organic impairment was found on neuropsychological testing. This study provides no support for the notion that Gilles de la Tourette syndrome is a degenerative disorder of the central nervous system but provides some evidence for heterogeneity.

Adolescent↗

The neurological, psychosocial and demographic correlates of hypergraphia in patients with epilepsy.

The multiaetiological determinants and correlates of interictal hypergraphia in patients with epilepsy were studied. A variety of neurological, psychosocial and demographic variables were examined in order to determine their relationship to experimental and clinically derived measures of hypergraphia in a sample of 50 patients with epilepsy. The results indicate that hypergraphia is of multifactorial origin in general, with especially strong relationships with measures of psychopathology. These results are related to the larger literature concerned with interictal behavioural change in patients with epilepsy.

Adult↗