Cytogenetic studies in patients with multiple anomalies with or without mental retardation.
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Biomedical subjects
Publications and source records attributed to R Berry.
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There are reports of sex chromosomal abnormalities including XXY, XYY, and fragile X karyotypes in autistic individuals, but structural autosomal defects have rarely been reported. This paper presents four patients with autism, mental retardation, minor dysmorphic features, and structural autosomal defects. These patients shared autistic features including fascination with inanimate objects, catastrophic reactions to changes in their environment or their daily routine, echolalia, and poor relatedness; IQ scores indicate mild to severe retardation. Their autosomal abnormalities included inversion/duplications of 3p and 16q, 5p+, and 17p-. Parental chromosomes were all normal. Chromosomal analysis should be performed on mentally retarded, autistic individuals, especially those with minor physical anomalies and no specific etiology for their retardation.
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In the past experimental methods used for producing focal cerebral ischemia have had considerable difficulty with regard to reproducibility of the size of the infarcted region. In this study we have developed an experimental model which enables us to consistently produce focal regions of cerebral ischemia (resulting in infarction) which vary little in size in a number of animals. Thirty-seven cats (3-4 kg b. wt.) anesthetized with chloralose and urethane were used. Physiologic monitoring and adjustments maintained arterial blood values as follows: pCO2 27-35 Torr, pO2 100-150 Torr, pH +/- 7.4, glucose 200 mg%, hematocrit greater than 25. The left middle cerebral artery was exposed via a transorbital approach and occluded for 1-2 h with and without left and/or both carotid artery occlusion. Sixteen hours following the ischemic episode, the animals were sacrificed and sections of fresh brain tissue were processed for vital staining using 1% tetrazolium solution. With this method normal brain areas appear dark red, ischemic regions (without infarction) appear gray and irreversibly infarcted areas appear pinkish-white. The volumetric dimensions of the lesioned area were measured using a planimeter. The same tissue was also evaluated histologically by means of standard histopathologic techniques on paraffin-embedded material. Infarcted areas as delineated macroscopically by the tetrazolium correlated well with the light microscopic findings. Ten animals subjected to a 2-h occlusion of the left middle cerebral artery (LMCA) and both carotid arteries resulted in a reproducible infarct which was 3.2 +/- 0.7 ml in volume. This represents 13.3 +/- 2.9% of the total volume of both cerebral hemispheres (above the level of the inferior colliculus.(ABSTRACT TRUNCATED AT 250 WORDS)
Male and female Wistar rats were fed for 28 days on a diet containing either chlorinated (1257 or 2506 ppm chlorine) or unchlorinated flour. No significant differences between groups in body weight were observed in the males. A significant inverse correlation between body weight and treatment level, attributable to a corresponding trend in food intakes, was found for the females only. No significant differences between absolute organ weights were found, but when the weights were adjusted for covariance with body weight, dose-related increases in kidney weight (males) and liver weight (both sexes) were found. Histopathological examination revealed no pathological tissue changes attributable to the chlorination of the flour.
Wistar rats were fed for 104 wk on cake-based diets in which the cake, prepared from unchlorinated flour, or flour treated with 1250 or 2500 ppm chlorine, formed 79% of the diet on a 12.6% moisture basis. A fourth group was fed stock diet 41B. No differences in appearance, health, behaviour or mortalities attributable to the flour treatment were observed. Female but not male mortalities were significantly higher for cake-fed rats than for those fed diet 41B. Dose-related haematological effects were seen at various stages in cake-fed rats. Dose-related increases in plasma alanine and aspartate aminotransferases were noted at 12 months in males but not in females, for whom all the values were elevated. A dose-related diminution in blood sugar at 12 months was seen only in females. A dose-related increase in urinary aspartate aminotransferase was seen only in males. Urinary N-acetylglucosaminidase activity per mg creatinine did not differ significantly between groups. At post mortem a dose-related reduction in spleen weight was found in the females only. The lesions found were those expected in ageing rats, but were observed earlier in rats fed cake. Glomerulonephrosis affected rats fed cake more than those fed diet 41B. Cake diets promoted nephrocalcinosis, unrelated to flour treatment. Increased splenic haematopoiesis occurred in about half of the females in the cake diet groups but less frequently in males or in rats fed diet 41B. Tumours were mainly chromophobe adenomas of the pituitary, common in rats. Insulomas were seen in two males in each of the groups fed on cake made from chlorinated flour, but an earlier form of this tumour was found in all cake groups and its incidence is thus regarded as unrelated to the flour treatment. The incidence of tumours of the reticuloendothelial system was not related to flour treatment. Covalent chlorine concentrations in the perirenal fat of the cake-fed rats were correlated with treatment levels, with values of 50-912 ppm in males and 59-1174 ppm in females. Since concentrations in the lipid of the diet fed to the animals were much higher than these, accumulation of the additive was absent or negligible. The chlorine concentrations in the perirenal fat of male and female rats fed diet 41B were 62 and 72 ppm respectively.
Male and female Theiller's Original strain mice were fed for 16 and 17 months respectively on diets in which cake, prepared from flours treated with 0, 1250 or 2500 ppm chlorine, formed 79% by weight on a 12.6% moisture basis. Body weights and food intakes were unaffected by flour treatment but all of the animals on cake diets showed significant increases in body weight compared with controls on a standard diet and became obese. Mortalities in the males were not related to treatment, but in the females there was excess mortality in the treated groups compared with the cake control group, after 13 months in the 1250 group and after 15 months in the 2500 group. No consistent treatment-related effects were observed in the haematological, biochemical and renal-function studies. Dose-related increases in heart and kidney weights and a dose-related decrease in ovary weight were seen in females. No evidence of carcinogenicity resulting from flour treatment was obtained but the early ending of the study, necessitated by high mortalities, greatly diminished the value of this finding. Concentrations of covalently bound chlorine in the perirenal fat were positively correlated with treatment level, but were considerably below those present in the lipid content of the diets on which the mice were fed.
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A 31-year-old black woman was studied who, at the age of 12 years, underwent splenectomy for a bleeding disorder due to idiopathic thrombocytopenic purpura (ITP). More than 20 years after the first signs of her bleeding disorder, the patient developed signs of Graves disease. This condition was treated with 131I with resulting hypothyroidism. The rare combination of ITP and Graves disease was considered to be a manifestation of two separate autoimmune disease. For the second time in the literature, HLA typing was performed in a patient with such a disease combination, and it was found to be of the group A23, A28, and B17. This is different from B8, which is most frequently found in both isolated ITP and Graves disease. Possible racial factors may be involved. It is concluded that more cases of such combined disease need to be studied before possible genetic patterns can be established.
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The effects of acute and chronic administration of a new antidepressant, amoxapine, on serum prolactin levels were compared to the effects of loxapine, its parent compound, which is a widely used neuroleptic. Serum prolactin levels were significantly elevated after amoxapine. These elevations were not significantly different from those of patients given loxapine. This suggests that amoxapine, in contrast to most other antidepressants, can block dopamine receptors at the anterior pituitary, which usually is associated with blockade of dopamine receptors in the striatum and limbic system, leading to extrapyramidal side effects and antipsychotic properties, respectively. The implications of these findings for the clinical use of amoxapine are discussed.
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The Present State Examination (PSE) has gained increasing acceptance in psychiatric research. As with any clinical method, its usefulness rests not only on its reliability and pertinence but also on how successfully it can be taught. Its teachability is particularly important for American-trained clinicans, given the wide differences between Anglo-European and American clinical practices and the fact that the PSE developed from Anglo-European clinical concepts and techniques. The authors reports that by means of preliminary phenomenological training and formal PSE demonstrations and supervised interviews, the PSE can be readily learned by diverse American-trained clinicians with interrater reliability comparable to that of British and European clinicians.
Despite extensive research use of the Present State Examination (PSE), the validity of classification based on PSE data has not been studied extensively. We have examined a consecutive series of functional psychiatric admissions using the PSE and systematically gathered clinical and demographic data in order to study not only the reliability but the descriptive (construct) validity of classification based on PSE data. We have found that the PSE can be used in a psychiatric hospital to reliably describe and classify schizophrenic and affective syndromes with considerable descriptive validity in terms of clinical and demographic variables. We believe that this type of validity is an important step in establishing validity of clinical disease entities. The interrelationship among different kinds of validity (descriptive, concurrent, predictive) might provide clinical disease concepts with more definitive validity.
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