Major karyotypic abnormality in a child born to a woman with untreated malignant melanoma

The karyotype of a 7-month-old child had 46 chromosomes, including five abnormal chromosomes in cultured lymphocytes. G-banding indicated the presence of reciprocal translocation products between chromosomes 1 and 7 and between chromosomes 4 and 15. A probable third translocation involved the same chromosome 4p arm and 12q. All meta-phases showed these changes. C-band markers and the presence of reciprocal exchange products indicated that the chromosome changes occurred in the zygote or a post-zygotic cell of the child. The mother developed malignant melanoma while carrying the child but did not receive therapy before its birth. The suggestion is made that an undetected common agent was involved in the aetiology of the mother's tumour and the clastogenic change to the child's chromosomes.     

Depressive deficits and bias: a direct comparison of two implicit measures of memory

Repeated findings of depressive deficits and mood‐congruent biases on explicit measures of memory have lent much support to cognitive models of depression. However, studies to date have been inconclusive with respect to such deficits or biases on implicit measures. Given current assertions that implicit use of memory is far more pervasive than explicit use, clarification of these issues has important implications for our understanding of cognitive factors in clinical depression and its treatment. We consider both these issues, and, in particular, we follow up the suggestion by Roediger and McDermott (1992) that conceptually driven implicit measures of memory are more appropriate to detect depressive bias than those that are typically used, which are perceptually driven. In this study we directly compare the memory performance of 24 clinically depressed patients with 24 nondepressed controls on a perceptually driven implicit task (fragment completion) and a comparable task that is more conceptually driven (cued fragment completion). Although depressive deficits were obtained on both these measures, no bias was revealed. We consider alternative research designs for clarification of these findings. Copyright © 2001 John Wiley & Sons, Ltd.     

An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7

Journal of Clinical Immunology - The NLRP3 inflammasome is a vital mediator of innate immune responses. There are numerous NLRP3 mutations that cause NLRP3-associated autoinflammatory diseases...