创伤患者输血与供者白细胞微嵌合的相关性

输血是挽救创伤患者生命而普遍使用的治疗方法,但其又存在着明显和潜在的危险性。当今,经血液传播传染病和输血反应很少发生,但仍然存在。尽管在临床治疗中试图控制创伤患者休克的发展及损伤的严重度,但其输血后细菌感染、多脏器功能衰竭、死亡的发生率仍较高。     

Neurocognition and occupational functioning in patients with first-episode psychosis: a 2-year follow-up study

Neurocognitive deficits are a core feature of schizophrenia that is associated with poor occupational functioning. Few studies have investigated this relationship in patients with first-episode psychosis. The current study examined the characteristics of employed and unemployed patients with first-episode psychosis at baseline and 2-year follow-up, and the predictive value of neurocognition on employment status. One-hundred and twenty-two first-episode psychosis patients were assessed with clinical and neurocognitive measures at baseline. Occupational status was assessed at baseline and 2-year follow-up. Those unemployed at baseline were rated lower on global functioning and were more likely to have a schizophrenia spectrum disorder. Total employment rates were 41% at baseline and 38% at 2-year follow-up. Four employment paths emerged at follow-up, defined as persistently employed, becoming unemployed, entering employment and persistently unemployed. The persistently employed group had the highest global functioning score. For the total sample, baseline employment status and sustained attention predicted employment status at follow-up. For those employed at baseline, better sustained attention, higher global functioning, more positive symptoms and less alcohol use predicted persistent employment at follow-up. For those unemployed at baseline, none of the variables predicted change in employment status. Implications of these results are discussed.     

A 2‐year follow‐up of involuntary admission’s influence upon adherence and outcome in first‐episode psychosis

Opjordsmoen S, Friis S, Melle I, Haahr U, Johannessen JO, Larsen TK, Røssberg JI, Rund BR, Simonsen E, Vaglum P, McGlashan TH. A 2‐year follow‐up of involuntary admission’s influence upon adherence and outcome in first‐episode psychosis. Objective: To see, if voluntary admission for treatment in first‐episode psychosis results in better adherence to treatment and more favourable outcome than involuntary admission. Method: We compared consecutively first‐admitted, hospitalised patients from a voluntary (n = 91) with an involuntary (n = 126) group as to psychopathology and functioning using Positive and Negative Syndrome Scale and Global Assessment of Functioning Scales at baseline, after 3 months and at 2 year follow‐up. Moreover, duration of supportive psychotherapy, medication and number of hospitalisations during the 2 years were measured. Results: More women than men were admitted involuntarily. Voluntary patients had less psychopathology and better functioning than involuntary patients at baseline. No significant difference as to duration of psychotherapy and medication between groups was found. No significant difference was found as to psychopathology and functioning between voluntarily and involuntarily admitted patients at follow‐up. Conclusion: Legal admission status per se did not seem to influence treatment adherence and outcome.     

Are multi family groups appropriate for patients with first episode psychosis? A 5‐year naturalistic follow‐up study

Rossberg JI, Johannessen JO, Klungsoyr O, Opjordsmoen S, Evensen J, Fjell A, Haahr U, Joa I, Langeveld J, Larsen TK, Melle I, Rund BR, Simonsen E, ten Velden W, Vaglum P, Friis S, McGlashan T. Are multi family groups appropriate for patients with first episode psychosis? A 5‐year naturalistic follow‐up study. Objective: To compare outcome over 5 years for patients who participated in multi family groups (MFGs) to those who refused or were not offered participation. Method: Of 301 first episode psychotic patients aged 15–65 years, 147 participated in MFGs. Outcome was measured by drop‐out rates, positive and negative syndrome scale (PANSS) symptom scores, and duration of psychotic episodes during the follow‐up period. Results: Multi family group participants had a significantly lower drop‐out rates at 5‐year follow‐up than patients who did not participate. However, the MFG participants had significantly less improvement in PANSS positive and excitative symptoms and had significantly longer duration of psychotic symptoms during the follow‐up period. Conclusion: Multi family groups appear to increase the chance of retaining patients in a follow‐up study, but adjustment of the programme may be necessary with first episode psychosis patients to meet their needs better.     

Genome-wide search for breast cancer linkage in large Icelandic non-BRCA1/2 families

Introduction:

A significant proportion of high-risk breast cancer families are not explained by mutations in known genes. Recent genome-wide searches (GWS) have not revealed any single major locus reminiscent of BRCA1 and BRCA2, indicating that still unidentified genes may explain relatively few families each or interact in a way obscure to linkage analyses. This has drawn attention to possible benefits of studying populations where genetic heterogeneity might be reduced. We thus performed a GWS for linkage on nine Icelandic multiple-case non-BRCA1/2 families of desirable size for mapping highly penetrant loci. To follow up suggestive loci, an additional 13 families from other Nordic countries were genotyped for selected markers.

Methods:

GWS was performed using 811 microsatellite markers providing about five centiMorgan (cM) resolution. Multipoint logarithm of odds (LOD) scores were calculated using parametric and nonparametric methods. For selected markers and cases, tumour tissue was compared to normal tissue to look for allelic loss indicative of a tumour suppressor gene.

Results:

The three highest signals were located at chromosomes 6q, 2p and 14q. One family contributed suggestive LOD scores (LOD 2.63 to 3.03, dominant model) at all these regions, without consistent evidence of a tumour suppressor gene. Haplotypes in nine affected family members mapped the loci to 2p23.2 to p21, 6q14.2 to q23.2 and 14q21.3 to q24.3. No evidence of a highly penetrant locus was found among the remaining families. The heterogeneity LOD (HLOD) at the 6q, 2p and 14q loci in all families was 3.27, 1.66 and 1.24, respectively. The subset of 13 Nordic families showed supportive HLODs at chromosome 6q (ranging from 0.34 to 1.37 by country subset). The 2p and 14q loci overlap with regions indicated by large families in previous GWS studies of breast cancer.

Conclusions:

Chromosomes 2p, 6q and 14q are candidate sites for genes contributing together to high breast cancer risk. A polygenic model is supported, suggesting the joint effect of genes in contributing to breast cancer risk to be rather common in non-BRCA1/2 families. For genetic counselling it would seem important to resolve the mode of genetic interaction.