Chromosome banding study of the Cornelia De Lange syndrome.
Chromosome studies were performed on 13 patients with the Cornelia de Lange syndrome. With the technique of chromosome banding analysis, no chromosomal abnormalities were found.
Biomedical subjects
Publications and source records attributed to J R Merikangas.
Chromosome studies were performed on 13 patients with the Cornelia de Lange syndrome. With the technique of chromosome banding analysis, no chromosomal abnormalities were found.
The visually evoked potential (VEP) was recorded from the scalp overlying precentral and occipital cortex in three monocularly deprived humans. The subjects had defects of the globe from birth that effectively created a condition of diffuse light rearing in one eye. In subject, BER, a 19-year-old with a recently removed congenital cataract, the occipital response evoked from the deprived eye was reduced by 53% compared with the response evoked from the good eye. In subject GUZ, age 20 with a congenital cataract, the occipital response evoked from the deprived eye was actually larger by 20% than was the response evoked from the good eye. For UTZ, age 5 with whitish cellular debri in the anterior vitreous of the eye, the occipital response evoked from the deprived eye was only 4% smaller than the response evoked from his good eye. In all three subjects, the precentral response evoked from the deprived eye was reduced in amplitude compared with the precentral response evoked from the good eye. In terms of relative effect of the deprivation upon the VEP from the two recording sites, the precentral VEP was altered to a greater extent than was the occipital VEP. These findings indicate that diffuse light rearing can affect the pathways projecting to precentral cortex independently of the specific visual pathways.
The cases presented here are intended to illustrate an approach to the patient with complaints which may be vague, evanescent, or related to emotional factors. A scheme to analyze only five factors, mood, movement, sensation, cognition, and consciousness is presented to simplify the complexity of human behavior in order to arrive at correct diagnoses. The importance of a complete medical evaluation is stressed. Psychosis and other major psychiatric illness have been alluded to, but space does not permit discussion of the very important issues of the genetics, the neurochemistry, and the differential diagnosis of schizophrenia, mood disorders, and the organic brain syndromes. Some of the many manifestations of epilepsy have been presented, and the importance of electroencephalography and computed axial tomography is stressed. The references have been chosen for their general utility to practicing clinicians, especially the works of Pincus, Glaser and Tumulty.
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This paper examines the association between psychiatric disorders and headache syndromes in a longitudinal epidemiologic sample of young adults who were selected from the general population of Zurich, Switzerland. Headache syndromes were defined according to the newly introduced diagnostic criteria of the International Headache Society in 1988. The prevalence rates of psychiatric disorders, according to specific headache subtypes, were examined both cross-sectionally and longitudinally. In the cross-sectional data, migraine with aura was associated with hypomania, recurrent brief depression, and all of the anxiety disorders, whereas only the phobic disorders and panic were elevated among subjects with migraine without aura. Similar findings emerged for the longitudinal data, with the exception that major depression was associated with both subtypes of migraine. Subjects with tension-type headaches did not differ from controls with respect to any of the effective or anxiety disorders in both the cross-sectional and longitudinal data. Prospective study data indicated that the age of onset of anxiety disorders generally preceded that of migraine and that the onset of affective disorders in the majority of comorbid subjects followed that of the onset of migraine. In order to investigate the mechanism for the associations between anxiety/depression syndromes and migraine, patterns of co-transmission of migraine and anxiety/depression were examined in data from a controlled family history study of migraine. The results were consistent with a syndromic relationship between migraine and anxiety/depression, rather than their representing discrete manifestations of shared underlying etiology. The implications of these data for research and clinical work are discussed.