Probabilistic reasoning in schizophrenia: A comparison of the performance of deluded and nondeluded schizophrenic patients and exploration of possible cognitive underpinnings

Introduction. A number of studies have suggested that deluded patients show a “jumping to conclusions” reasoning style on probabilistic reasoning tasks. In order to systematically explore the cognitive underpinnings of this task, we compared deluded and nondeluded patients on a number of experimental manipulations to investigate the role of memory and task pragmatics on performance.

Methods. In Study 1, the performance of deluded and nondeluded schizophrenia patient groups was compared to nonpsychiatric controls on a battery of probabilistic reasoning tests. In Study 2, two variants of the standard “beads in jars” task were compared in order to explore the possible role of working memory load on task performance.

Results. In Study 1, there were no significant differences between any of the groups on any of the probabilistic reasoning tasks. In Study 2, we found a significant difference between the two schizophrenic groups and the controls, but no difference in performance between deluded and nondeluded patient groups. The deluded group responded fastest in the memory intensive condition.

Conclusions. Deluded and nondeluded schizophrenic patients perform similarly on probabilistic reasoning tasks and only show the “jumping to conclusions” response pattern under some conditions but not under others. Memory demands may influence the appearance of this pattern of responding in schizophrenia.     

No Evidence of Association of CTLA-4 -318 C/T, 159 C/T, 3′ STR and SUMO4 163 AG Polymorphism with Autoimmune Diabetes

Autoimmune diabetes is an organ specific and multifactorial disorder including insulin dependent diabetes mellitus (Type 1 Diabetes) and latent autoimmune diabetes in adults (LADA), which progresses to insulin dependency because of the beta cells destruction. Several polymorphisms in different genes have been associated with diabetes. The CTLA4 gene is considered a down regulator of T cell function, and the SUMO4 gene encodes a small ubiquitin-like modifier implicated in the intensity and duration of the immune response. We selected 62 LADA patients, 123 patients with Type 1 diabetes patients and 136 unrelated volunteers to study CTLA4 -318 C/T, 159 C/T, 3′ STR and SUMO4 163 A/G polymorphisms by PCR. There was a statistical difference significant in the frequency of the allele 209pb for the 3′STR between LADA and Type 1 diabetes patients but not with respect the normal group, the frequencies were found to be 6.9%, 1.0% and 1.9%, respectively. However, no association with either of the polymorphisms has been found in the studied population. The knowledge of the several susceptibility loci in autoimmune diabetes will enhanced the prediction of individuals at high risk of developing the disease in order to establish the best treatment and the prevention of autoimmune diabetes.     

Effect of perceptions of menstrual blood loss and menstrual pain on women’s quality of life

Objectives: The aim of the study was to explore Australian women’s experiences of menstruation and effect on quality of life (QoL).

Methods: A representative sample of women recruited through a commercial social research sampling organisation completed a detailed online questionnaire about menstruation. Specific detailed questions were asked about perceptions of heavy menstrual bleeding (HMB) and menstrual pain.

Results: The questionnaire was completed by 1575 women aged 20–39 years. Most perceived their bleeding to be light (11.6%) or moderate (60.5%); 363 (22.5%) perceived it to be heavy and 86 (5.3%) very heavy. Women who experienced severe or very severe menstrual pain were significantly more likely to report periods as heavy or very heavy (p?12 times more likely to be confined to bed for 0.5–1?day during menstruation than if they reported HMB without pain.

Conclusion: Severe menstrual pain with HMB has a much more profound effect on all aspects of women’s QoL than HMB alone; it accounts for more days in bed and for loss of productivity.     

Preterm birth in rural Malawi: high incidence in ultrasound-dated population

BACKGROUND: Preterm birth is the major cause of neonatal death, and has an incidence in industrialized countries of 7%. We have found a high incidence (25-30%) previously in a population of anaemic, pregnant women in southern Malawi, studied with ultrasound dating. METHODS: Cohort study of 512 unselected pregnant women in rural communities in Malawi. All had ultrasound fetal measurements before 24 weeks. RESULTS: 20.3% of women delivered before 37 completed weeks of pregnancy. Babies born before 37 completed weeks but after 32 weeks (16%) were twice as likely to die as babies born at term (6.9 versus 3.4%) but this difference did not achieve statistical significance. For those born between 24 and 33 weeks gestation (4.4%) there was a highly significant increase in perinatal mortality (75%) (p <0 .000001). CONCLUSIONS: This population has a very high rate of preterm birth, which is probably infection-related. It may be representative of many rural populations in sub-Saharan Africa. Tackling the problem of neonatal mortality in low income countries will require effective methods to prevent preterm birth.     

Cytotoxic T lymphocyte antigen 4 heterozygous codon 49 A/G dimorphism is associated to latent autoimmune diabetes in adults (LADA)

Autoimmune diabetes is an organ specific and multifactorial disorder with a classical onset as insulin dependent diabetes mellitus (IDDM) and with another form of onset as latent autoimmune diabetes in adults (LADA), which has a slower onset and a later progress to insulin dependency as a result of the beta cells destruction. The cytotoxic T lymphocyte-antigen 4 (CTLA4) has been identified as a susceptible marker of the disease; it is considered a down regulator of T cell function, playing a key role in autoimmunity. We analyzed CTLA4 codon 49 A/G polymorphism in 123 IDDM patients, 63 LADA patients and 168 healthy non-diabetic control individuals. The frequency of the heterozygous A/G genotype in LADA patients was significantly increased compared to IDDM patients (55.6 vs. 39.8%, p = 0.0415). There was no statistical significant difference in the distribution of the A/G dimorphism between autoimmune diabetes patients (LADA or IDDM) and non-diabetic control individuals. HLA DQ region is responsible for the genetic susceptibility to autoimmune diabetes in IDDM patients in about 50% and it has a lower effect in genetic susceptibility in LADA patients. Several other genetic loci are needed to develop autoimmune diabetes in adult patients. Therefore, LADA may be the result of a combined minor risk loci effect in a major risk haplotype.     

NSAIDs and Alzheimer disease: epidemiological, animal model and clinical studies

This review reports correlations between four independent fields related to inflammation and Alzheimer disease: fundamental pathology, epidemiology, transgenic animal studies and clinical trials. Activated microglia, along with a spectrum of inflammatory mediators, have been identified in association with the lesions of Alzheimer disease (AD), suggesting that antiinflammatory agents such as NSAIDs should protect against the disease. In multiple epidemiological investigations testing this hypothesis, a significant risk reduction, or a trend towards such a reduction has been observed in long term as opposed to short term users of traditional NSAIDs. In studies where such NSAIDs have been administered to AD transgenic mice, a dose dependent reduction in pathology was observed. The selective C0X-2 inhibitors were ineffective. Results of clinical investigations have so far been disappointing but have nevertheless correlated with fundamental pathological findings and with transgenic mouse results. Four clinical trials using selective COX-2 inhibitors failed which is in keeping with the animal results and is consistent with pathological findings demonstrating that COX-1 and not COX-2 is the appropriate target in activated human microglia. A low dose trial of the traditional NSAID naproxen also failed, but pilot trials using therapeutically established doses of indomethacin and diclofenac/misoprostol showed promise. Further clinical investigations with relatively high doses of traditional NSAIDs might be warranted, although significant side effects should be anticipated.     

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

Interstitial deletions involving the 15q21.1 band are very rare. Only 4 of these cases have been studied using molecular cytogenetic techniques in order to confirm the deletion of the whole FBN1 gene. The presence of clinical features of the Marfan syndrome (MFS) spectrum associated with mental retardation has been described in only 2/4 patients. Here we report on a 16-year-old female referred for suspicion of MFS (positive thumb and wrist sign, scoliosis, joint hyperlaxity, high-arched palate with dental crowding, dysmorphism, mitral insufficiency with dystrophic valve, striae). She had therefore 3 minor criteria according to the Ghent nosology. She also had speech disabilities but could follow normal school training. Direct sequencing of the FBN1, TGFBR1 and TGFBR2 genes was negative. MLPA revealed a genomic deletion of the whole FBN1 gene, confirmed by loss of heterozygosity of maternal alleles for several microsatellite markers surrounding the FBN1 gene. The deletion was confirmed by FISH using a FBN1 probe and was not found in the parents. Array-CGH permitted to define a 2.97 Mb deletion, which was the smallest 15q microdeletion including FBN1. Contrary to the other published observations, our proband does not exhibit mental retardation, but neuropsychological evaluations revealed an attention deficit as well as a deficit in information-processing speed. Haploinsufficiency of FBN1 is likely to contribute to the presence of MFS features. However, attenuated features could be explained because disturbances of TGF-β signalling associated with FBN1 mutations do not exert full phenotypic effect through simple haploinsufficiency. Phenotypic variability in other patients with interstitial deletions including 15q21.1 band may reflect differences in deletion size and/or cys/trans modifying factors.