European multicenter study on LOH of APOC3 at 11q23 in 766 breast cancer patients: relation to clinical variables. Breast Cancer Somatic Genetics Consortium.

High frequencies of loss of heterozygosity (LOH) in chromosome 11q22-qter have been observed in various malignancies, including breast cancer. Previous studies on breast carcinomas by Winqvist et al (Cancer Res 55: 2660-2664) have indicated that a survival factor gene is located in band 11q23, and that the highly informative microsatellite polymorphism at the APOC3 locus would be a suitable tool to perform more extensive LOH studies. In this European multicentre study, we have examined the occurrence of APOC3 LOH and evaluated the effect of LOH of this chromosomal subregion on the clinical behaviour of the disease in a cohort of 766 breast cancer patients in more detail. LOH for APOC3 was found in 42% of the studied tumours, but it was not found to be significantly associated with any of the studied clinical variables, including cancer-specific survival time or survival time after recurrent/metastatic disease. According to the present findings, the putative survival factor gene on 11q23 is not located close enough to the APOC3 gene, but apparently at a more proximal location.     

Psychological factors in male partners of infertile couples: relationship with semen quality and early miscarriage

In this study we sought to evaluate whether psychological factors in males affect semen quality and pregnancy. In 1076 men of infertile couples, psychological factors, i.e. exposure to acute stress, coping with stress, the WHO (five) Well-Being Index and the Zung's Anxiety Scale Inventory scores were assessed by a questionnaire at the time of semen analysis. Relationships between psychological factors and semen quality (sperm concentration, rapid and progressive motility and normal morphology) were assessed. In 353 men with infertility duration of < or =1.5 years, sperm concentration > or =5 x 10(6) sperm/mL and a female partner with a laparoscopically confirmed tubal patency, we looked prospectively for relations between psychological factors and the occurrence of a natural pregnancy at a 6-month follow-up (n = 124), and first-trimester loss (n = 18). Anxiety trait, found in 19% of men, was related to previous in vitro fertilization/intracytoplasmic sperm injection attempts (p = 0.014), cigarette intake (p = 0.006), alcohol intake (p = 0.026) and sexual difficulties (p < 0.001). Regression analyses indicated a significant positive relationship between the level of sperm concentration and the WHO (five) Well-Being Index score, each successive score number accounting for a 7.3% increase in sperm concentration (p = 0.039), whereas no correlation was found between psychological factors and sperm rapid progressive motility and normal morphology. Poorer coping with stress was related to the occurrence of a first-trimester miscarriage (p = 0.016) in the female partner. Possible depression in males is related to decreased sperm concentration, and poor coping with stress is associated with increased occurrence of early miscarriage.     

Quantitative analysis of gene expression in human articular chondrocytes assigned for autologous implantation

Autologous chondrocyte implantation (ACI) relies on the implantation of in vitro expanded cells. The aim was to study the dedifferentiation of human articular chondrocytes under different cultivating conditions [days 0–10 in the primary culture (P0); passages in a monolayer from P0 to P3; monolayer vs. alginate and monolayer vs. alginate/agarose hydrogels] using real‐time PCR analysis. The relative gene expressions for collagen type I and II, aggrecan and versican were quantified and the corresponding differentiation indexes (Col2/Col1, Agr/Ver) were calculated. The values of both differentiation indexes decreased exponentially with time in the P0 monolayer culture, and continued with a significant decrease over the subsequent monolayer passages. On the contrary, the chondrocytes seeded in either of the hydrogels significantly increased the indexes compared to their parallel monolayer cultures. These results indicate that alginate and alginate/agarose hydrogels offer an appropriate environment for human articular chondrocytes to redifferentiate after being expanded in vitro. Therefore the three‐dimensional (3D) hydrogel chondrocyte cultures present not only surgical, but also biological advantage over the classic suspension–periosteum chondrocyte implantation. © 2008 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 26:847–853, 2008     

Psychiatric disturbances after traumatic brain injury: Neurobehavioral and personality changes

Traumatic brain injuries (TBI) are frequently accompanied by psychiatric disturbances, which can include striking to relatively minor alterations in personality, behavior, and emotional regulation. The persistence of these neurobehavioral syndromes often leads to deleterious effects on recovery and rehabilitation outcomes. A recent surge of studies has emerged in the past several years to quantify the extent of psychiatric disorders in TBI and to describe differential clinical presentations. Various pre- and post-injury factors also have been hypothesized to contribute to the development and maintenance of psychiatric symptoms in survivors of brain injuries. The identi.cation of high-risk individuals with distinct neuropathophysiological and psychosocial features permits the development of multidisciplinary and tailored approaches to the assessment, prevention, and management of the negative effects of personality and behavioral changes in TBI. This article summarizes the most recent research in these areas and highlights the gaps that need to be filled in subsequent future.     

Evaluation of the effectiveness of two clinical training procedures to elicit yes/no responses from patients with a severe acquired brain injury: a randomized single-subject design

PRIMARY OBJECTIVE: Thirteen (10 males) participants with severe acquired brain injuries (ABI) were randomly assigned to two treatments, A or B (ABAB, BABA) in a crossover study to determine which treatment approach elicited more consistent and reliable yes/no responses. RESEARCH DESIGN: Treatment A consisted of an enriched stimulus environment, collaborative multidisciplinary interventions and additional yes/no response training, while Treatment B consisted of the standard hospital environment and interventions. MAIN OUTCOMES: An ANOVA showed no order effect (AB vs BA; p=0.60), but a trend (A vs B;p=0.07) towards statistical significance for increased responsiveness with treatment A. Inter-raterreliability (n=10) ranged from fair-to-good, intra class correlation (ICC) 0.51; 95% confidence interval (CI) (0.29-0.93). Post-hoc analyses showed statistically significant increased responsiveness for four participants with treatment A (p<0.001). CONCLUSION: Evidence is provided that enhanced communication strategies can improve responsiveness in a sub-group of participants with severe acquired brain injuries.     

Personality traits of men with Klinefelter syndrome and their partners

The aim of the study was to find whether personality traits of men with Klinefelter syndrome and their partners (group 1-n = 17) differ from those of couples affected by idiopathic infertility (group 2; n = 16) and from those of fertile couples (group 3 n = 17). We further investigated the attitudes of the three groups towards pregnancy, labour and sexuality to find potential différences among the three groups. Besides, we verified the hypotheses of below average or low average intelligence of men with Klinefelter syndrome, and of inferior quality of social life in these men. The data were collected using the interview on medical history, the questionnaire on attitudes towards pregnancy, labour and sexuality (S-S-G), the personality questionnaire MMPI-2. The Raven progressive matrices were used only in group 1. The results show that men with Klinefelter syndrome and their partners do not differ significantly from the couples with idiopathic infertility (group 2), having some shizoide traits in their personality structure and mostly negative attitudes towards pregnancy, labour and sexuality. However, a significant difference has been found between the Klinefelter syndrome group and the fertile couples group. The hypothesis of below average intelligence has not been confirmed, but the quality of social life of men with Klinefelter syndrome has been found inférior. We may thus conclude that in the management of infertile couples in whom the man has been affected by Klinefelter syndrome, the personality structure, importantly affecting the outcome of treatment, should be taken into consideration.