Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MRI studies

Thrombocytopenia with absent radius (TAR) syndrome is infrequently (7%) associated with mental retardation. In those cases, the mental deficiency is presumed to be a consequence of intracranial hemorrhage due to the thrombo-cytopenia. We report on 2 infants with TAR syndrome. One had developmental delay with evidence of cerebral dysgenesis by magnetic resonance imaging (MRI). Such findings have not been noted in the literature, but may not have been investigated in most cases. The other infant with TAR syndrome, who has had normal psychomotor development, has a normal brain on MRI scan. Detailed neuroimaging studies, preferably MRI, should be considered in the evaluation of patients with TAR syndrome, especially when there are documented signs of developmental delay, with or without a history of intracranial hemorrhage. © 1994 Wiley-Liss, Inc.     

Pericentric inversions of chromosome 4: report of a new family and review of the literature

A family was cytogenetically studied because of the birth of a male child with a multiple congenital anomaly pattern, in whom a dup (4q) recombinant was found. His phenotypically normal mother's karyotype showed an apparently balanced pericentric inversion in a chromosome 4. So as to analyze the occurrence of recombinants, the cytogenetic data from this family are compared with those of the 18 previously reported familial cases of pericentric inversions (PIs) of chromosome 4. The congenital anomalies observed in the child strongly suggest Wolf-Hirschhorn syndrome but some of his clinical features seem to be pathogenetically related to the presence of lymphedema during the intrauterine period. In the multiple congenital anomaly pattern observed in this patient, the lymphedema could be the consequence of the large 4q duplication. The review of chromosome 4 PIs with 4q duplication suggests that the q3 region should be examined when edema is detected prenatally.     

The baroreceptor reflex and the cardiovascular changes associated with sustained muscular contraction in the cat

Summary In decerebrate unanaesthetised cats the cardiovascular effects of raising the pressure in a blind sac preparation of a carotid sinus on one side were examined at rest and during sustained contractions of hind-limb muscles. During a tetanic contraction the absolute value of the blood pressure and heart-rate components of the baroreceptor reflex response were not significantly changed from those at rest. The curve relating heart-rate and mean blood pressure, during carotid sinus distension, was similar at rest and when the muscles of the hind-limb were contracting tetanically, although each value of heart-rate was greater, suggesting a resetting of the baroreceptor reflex. By contrast, in the same experiments, suppression of the baroreceptor reflex changes in heart-rate and blood pressure could be demonstrated during the increases of blood pressure and heart-rate elicited by electrical stimulation of limb nerve. It was concluded that the increases in blood pressure and heart-rate elicited by the afferent discharge from muscles during sustained contraction are buffered to some extent by the baroreceptors, though their inhibitory effect is incomplete under these conditions.     

The relationship between cardiovascular reactivity and heartbeat detection

This experiment tested the hypothesis that inotropic cardiovascular reactivity to stress is related to performance on heartbeat discrimination tasks. The experiment also compared the efficacy of a specific modification of two popular heartbeat discrimination paradigms, Whitehead's and Katkin's. Subjects were 48 male undergraduates who performed both discrimination tasks and then were subjected to mental arithmetic stress. Results indicated that high cardiovascular reactors were better detectors than low reactors. Results also indicated that subjects performed better on the modified Whitehead task than on the modified Katkin task.     

Psychophysiological characteristics of narcissism during active and passive coping

This study provides the first psychophysiological analysis of narcissism by measuring autonomic responses during active and passive anticipatory coping in 40 undergraduate men who scored high or low on the Narcissistic Personality Inventory (NPI). Compared to the low NPI group, the high NPI group showed greater preejection period (PEP) shortening, cardiac deceleration, and skin conductance response (SCR) habituation during anticipation of an aversive stimulus (p < .02). As expected, SCR and PEP reactivity were greater during active than passive coping. In the case of PEP, this effect emerged only in the low NPI group; the high NPI group showed the greatest PEP reactivity during the first task, regardless of coping demands. These data support hypothesized relationships among narcissism, psychopathy, and psychological predictors of cardiovascular disease, and suggest that a psychobiological dimension may underlie important features of narcissism.     

Blood pressure and muscle sympathetic nerve activity during cold pressor stress: fitness and gender

We examined putative autonomic and hemodynamic mechanisms that might explain our prior finding that cardiorespiratory fitness mitigates blood pressure responses by normotensive women during the hand cold pressor test. We report that fitness level was inversely related to increases in systolic and diastolic blood pressures and muscle sympathetic nerve activity (MSNA) during the cold pressor among women but not men. The pattern of responses among fitter women was consistent with decreased central sympathetic outflow resulting in reduced stroke volume or dampened peripheral resistance in vascular beds other than calf skeletal muscle. Fitter men and women had slightly larger increases in blood pressure during mental arithmetic, but otherwise fitness was not directly related to stress responses. The results further encourage consideration of cardiorespiratory fitness as a modifying covariate when the hand cold pressor test is used as a predictor of future hypertension among women.     

Interstitial deletion in the long arm of chromosome no. 5

A case of a male infant with several congenital anomalies combined with an interstitial deletion of the long arm of chromosome no. 5 is presented. The symptoms of the infant were compared to five previous reported cases with similar interstitial deletions in 5q.     

妊高征患者产前及产后血小板活化状态的研究

采用流式细胞术对４２例正常晚孕妇女及５０例妊高征患者产前及产后７２小时Ｐ－选择素进行对比研究。结果：妊高征患者Ｐ－选择素含量明显大于正常晚孕妇女，Ｐ－选择素含量在轻、中及重度妊高征患者呈递增趋势，差异均有显著性，产后７２小时其Ｐ－选择素含量降至正常晚孕妇女水平。提示：Ｐ－选择素可作为妊高征早期诊断及监测病情的一个重要指标