Biomedical subjects
Publications and source records attributed to C Fear.
Atypical antipsychotic drugs offer hope to schizophrenics and their families. Controversy continues over their cost-effectiveness but patient surveys suggest increased compliance and thus improved mental health. This article reviews schizophrenia management, exploring the consequences of failing to adopt modern therapies in hampering compliance and stigmatizing the mentally ill.
A de novo abnormal chromosome 15, with an inverted duplication of the segment (15q13.3 --> 15q21.3) at 15q24.3, was found in a boy with mild developmental delay, facial dysmorphism, Marfan-like appearance and severe language delay. There is an unusual disparity between the severe lack of speech and the presence of reasonable skills in other areas.
BACKGROUND: Studies of schizophrenics with persecutory delusions have shown cognitive biases in subjects who are deluded. It has been suggested that their delusions defend against depression. This study challenges the assumption that delusional disorder (DD) patients are covertly depressed. METHOD: Clinical and demographic data, and responses to questionnaires designed to assess schizotypy, depression, dysfunctional attitudes, attributional and attention biases were collected from 29 patients satisfying DSM-III-R criteria for DD. These were compared with 20 matched normal controls and results from published studies of schizophrenics. RESULTS: DD subjects did not show abnormal levels of overt or covert depression or schizotypy. They showed high levels of dysfunctional attitudes (P < 0.0001), a distinctive attributional style (P = 0.01), and increased attention to threat-related stimuli (P = 0.01). CONCLUSIONS: DD is a distinct disorder predicated upon sensitivity to threat and biases of attention and attribution. These findings may have implications for the cognitive therapy of these disorders.
It has been postulated that behavioural differences between normal males and those with an additional X or Y chromosome may be related to pre- or postnatal hormonal variations. The prenatal hormone status was investigated using amniotic fluid obtained at antenatal diagnosis between 16 and 20 weeks gestation from fetuses with sex chromosome abnormalities and from controls of the same gestational age. After log transformation, the (geometric) mean testosterone levels were XY 439.4 pmol/l, range 165-1,027 (n = 29), XYY 490.7 pmol/l, range 224-1,092 (n = 20); and XXY 419 pmol/l, range 87-1,021 (n = 20). There were no significant differences between the three male groups and all three were significantly higher than the XX fetuses at 147.0 pmol/l, range 41-474 (p < 0.001). These findings give no support to the hypothesis that prenatal testosterone levels contribute to later behavioural characteristics.
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Investigations by fluorescence in situ hybridization and a Y-specific probe (Y190) of a male patient with a Y ring chromosome, 46,X,r(Y) showed four bright fluorescent spots within the ring. Thus, using this technique, it is possible to suggest that the ring originates from the duplication of the short arms of the Y chromosome.
We report two unrelated girls who present some clinical features of severe incontinentia pigmenti (IP), with characteristic skin pigmentation. Both have balanced de novo X/autosome translocations involving band Xp11. The coincidence of the probable de novo expression of an X-linked disorder in these two girls with translocations involving similar breakpoints on the X chromosome suggests that this band may be the site of the IP gene locus.
A male infant with multiple congenital abnormalities and global retardation was found to have a translocation resulting in partial trisomy for the distal end of the long arm of chromosome 3. The phenotypically normal father carried a balanced reciprocal translocation between chromosomes 3 and 17.
A case of partial trisomy of the long arm of chromosome 3 (3q21 leads to qter) is described. The clinical findings are compared with those in 5 previously reported cases. There is hirsutism and characteristic facial dysmorphism, the common features of which are a square-shaped face, prominent nasal bridge, everted nostrils, hypertelorism, and palate abnormalities; occurring less often are abnormalities of vertebrae, thorax, and digits, or cardiovascular, urinogenital, and central nervous system. New features noted in this present case are absence of right eye from orbit and spina bifida. The spectrum of this syndrome is discussed, with possible relation to the degree of trisomy. The present case is the 6th to be reported with partial trisomy of the long arm of chromosome 3.
Obsessive-compulsive (OCD) and delusional disorders (DD) have been recognised with increased frequency in recent years, and the propensity of some OCD subjects to become deluded has become a focus of interest. This study reports illness-specific demography along with measures of symptom severity and tests to assess schizotypal ideation, dysfunctional attitudes, attributional and attention bias in 30 patients with OCD, 29 with DD, 16 with OCD with delusions (OC-DD) and a 30-subject control group (CG). Obsessional features appeared before delusions in the OC-DD group, suggesting that OCD was the primary pathology. Delusions were more likely in subjects obsessional about one rather than multiple themes. There was some support for proposals that depression and schizotypy may bring out delusions in OCD and some evidence for the utility of categorising OCD according to the number of obsessions a subject has.