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J Clin Endocrinol Metab. 2002 Sep;87(9):4094-100.
Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1.

Salvi R, Gomez F, Fiaux M, Schorderet D, Jameson JL, Achermann JC, Gaillard RC, Pralong FP.

Division of Endocrinology and Diabetology, University Hospital, 1011 Lausanne, Switzerland.

DAX-1 [dosage-sensitive sex reversal, adrenal hypoplasia congenital (AHC) critical region on the X chromosome, gene 1] is a transcription factor expressed in the adrenal gland and at all levels of the gonadotrope axis. Inactivating mutations of DAX1 result in the X-linked form of AHC with associated hypogonadotropic hypogonadism. AHC usually reveals itself as adrenal failure in early infancy, although a wide range of phenotypic expression has been reported. We describe a patient who was diagnosed with adrenal failure at 6 wk of age, but who experienced recovery of adrenal function of several months' duration later in infancy. He subsequently failed to undergo puberty because of hypogonadotropic hypogonadism of pituitary origin, and he was also diagnosed with schizophrenia in early adulthood. Molecular genetic analyses revealed a complex rearrangement in DAX1, including a 2.2-kb deletion spanning the entire second exon and a small 27-bp insertion. The putative protein encoded by this mutated gene is 429 amino acids long. The initial 389 residues probably correspond to the wild-type DAX-1 sequence, whereas the last 40 amino acids are presumably completely unrelated, being transcribed from the intronic sequence adjacent to exon 1. In vitro functional analyses confirm the absence of repressor activity exerted by such mutant protein. These studies expand the genotypic and phenotypic spectrum of DAX-1 insufficiency in humans.

online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12213854&dopt=Abstract

Psychol Assess. 2002 Sep;14(3):279-98.
Application of stochastic modeling to the assessment of group and individual differences in cognitive functioning.

Neufeld RW, Vollick D, Carter JR, Boksman K, Jette J.

Department of Psychology, University of Western Ontario, London, Ontario N6A 5C2, Canada. rneufelwo.ca

This article begins with a guiding schema of relations among cognitive science, clinical science, and assessment technology. Emphasis is placed on stochastic modeling of cognitive processes. Basic models are adjusted so as to parsimoniously accommodate performance deviations occurring with psychopathology. Modified portions of models indicate functions affected by disorder, whereas portions remaining intact indicate spared functions. Findings from clinical cognitive science are applied to the individual case using Bayesian procedures. Methods are instantiated with respect to cognitive psychopathology of paranoid schizophrenia. The authors address observations and issues arising from this application, including integration of these methods with current assessment practices.

online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12214434&dopt=Abstract

Psychol Med. 2002 Aug;32(6):1101-7.
Schizophrenia patients' perceptual biases in response to positively and negatively valenced emotion chimeras.

Gooding DC, Tallent KA.

Department of Psychology, University of Wisconsin-Madison, 53706, USA.

BACKGROUND: In a prior study, we observed that schizophrenia patients display atypical perceptual biases in response to emotional (happy/neutral) facial chimeras. METHODS: The present study was an attempt to replicate and extend those findings, using emotional stimuli with negative affective valence (angry/neutral chimeras) as well as positive valence, and including more than one type of non-affective facial comparison task. We compared schizophrenia patients (N = 37) and controls (N = 48) on free-vision tasks that typically yield left spatial field biases indicative of right hemisphere activation. There were six chimera tasks, including two emotion (happy, angry) chimeras, two non-emotion (gender, age) chimeras and two non-face (dots, gradients) chimeras. RESULTS: We observed a Group x Task interaction, with schizophrenia patients displaying significantly less of the expected left spatial perceptual bias in response to the happy/neutral chimeras and the angry/neutral chimeras relative to the controls. In contrast, the patients and controls did not differ in terms of their response to the Gender, Age, Dots, or Gradients tasks. CONCLUSIONS: These findings are consistent with the assertion that, compared with healthy controls individuals with schizophrenia perceive emotion differently.

online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12214789&dopt=Abstract

Psychol Med. 2002 Aug;32(6):1125-9.
Theory of mind deficit in people with schizophrenia during remission.

Herold R, Tenyi T, Lenard K, Trixler M.

Department of Psychiatry and Medical Psychology, University of Pecs, Medical Faculty, Hungary.

BACKGROUND: The authors' goal was to investigate the presence or absence of theory of mind impairments among people with schizophrenia during remission. Recent research results interpret theory of mind deficits as state rather than trait characteristics, connecting these impairments mainly to the acute episode of psychosis. METHODS: Twenty patients with schizophrenia in remission and 20 matched control subjects were evaluated. Participants were presented with one first-order theory of mind task, one second-order theory of mind task, two metaphor and two irony tasks adapted from previous studies. RESULTS: The schizophrenic patients performed a statistically significant impairment in the irony task, as there were no significant differences in the cases of the other evaluated tasks. CONCLUSIONS: These preliminary results suggest that theory of mind impairments can be detected not only in the acute phase as found in previous research studies, but also in remission.

online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12214792&dopt=Abstract

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