Copy number variation and genomic alterations in health and disease

A report of the 1st GOLDEN HELIX Symposium 'Copy number variation and genomic alterations in health and disease', Athens, Greece, 28-29 November 2008

Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence:two case reports and a review of the literature

BACKGROUND: The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases. Furthermore, we aimed to collect existing knowledge in the embryopathogenesis and genetics in order to discuss a possible link between the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome. CASE PRESENTATION: Our first case was a white girl delivered by caesarean section at 37 weeks of gestation; our second case was a white girl born at a gestational age of 40 weeks. A co-occurrence of vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome was diagnosed in both cases. We performed a systematic literature search in PubMed ((VACTERL) OR (VATER)) AND ((MRKH) OR (Mayer-Rokitansky-Küster-Hauser) OR (mullerian agenesis) OR (mullerian aplasia) OR (MURCS)) without limitations. A similar search was performed in Embase and the Cochrane library. We added two cases from our local center. All cases (n = 9) presented with anal atresia and renal defect. Vertebral defects were present in eight patients. Rectovestibular fistula was confirmed in seven patients. Along with the uterovaginal agenesis, fallopian tube aplasia appeared in five of nine cases and in two cases ovarian involvement also existed. CONCLUSIONS: The co-occurrence of the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome is extremely rare. This group of patients has unusual phenotypic characteristics. The long-term outcome after treatment of defects is not well reported. A single unifying cause is not known and the etiology probably includes both genetic and non-genetic causes. We stress the importance of future studies to optimized treatment, follow-up, and etiology

Is Perfectionism Always Unhealthy? Examining the Moderating Effects of Psychological Flexibility and Self-Compassion

Objectives: Perfectionism is generally associated with worse mental health outcomes, though evidence suggests elements of it might be helpful. In light of these findings, we examined whether psychological skills like psychological flexibility and self-compassion moderated the relationship between perfectionism and wellbeing (i.e., quality of life, symptom impairment, and psychological distress). Methods: Undergraduate students (N= 677) completed self-report measures. Results: A latent profile analysis identified three perfectionism groups (low, average, high) based on four perfectionism subscales: concern over mistakes, need for approval, rumination, and striving for excellence. Generally, we found that psychological flexibility and/or self-compassion buffered the impact of average and high perfectionism on quality of life and symptom impairment. Conclusion: Our results support the utility of practicing psychological flexibility and/or self-compassion for people with average and high levels of perfectionism. Limitations include using a cross-sectional design and non-clinical sample

Thresholds for the Oxford Hip Score after total hip replacement surgery:a novel approach to postoperative evaluation

Abstract Background This is a prospective cohort study to define the thresholds to distinguish patients with a satisfactory or unsatisfactory outcome after total hip replacement (THR) based on patient-reported outcome measures (PROMs) including the Oxford Hip Score (OHS), and using patient satisfaction and patient-perceived function as global transition items. The thresholds are intended to be used as a tool in the process of determining which patients are in need of postoperative outpatient evaluation. Methods One hundred and three THR patients who had completed a preoperative questionnaire containing the OHS questionnaire were invited to complete the same questionnaire and supplementary questions at a mean of 6 (4–9) months after surgery. Correlations between outcome measures and anchors were calculated using Pearson’s correlation coefficient. Thresholds were established by receiver operating characteristic (ROC) analysis, using multiple anchors. Results Significant correlations were found between outcome measures and anchors. Thresholds were determined for outcome measures coupled with satisfaction, patient-perceived function and a combination thereof using a cut-off of 50 and 70. Conclusions We have established a set of thresholds for Oxford scores that may help determine which THR patients are in need of postoperative evaluation. These thresholds can be implemented in clinical practice. Level of evidence Level 3

An Examination of the Relationship Between Perfectionism and Neurological Functioning

Clinical perfectionism is the rigid pursuit of high standards, interfering with functioning. Little research has explored neural patterns in clinical perfectionism. The present study explores neural correlates of clinical perfectionism, before and after receiving ten 50-minute, weekly sessions of acceptance and commitment therapy (ACT), as compared to low-perfectionist controls, in specific cortical structures: the dorsolateral prefrontal cortex (DLPFC), medial prefrontal cortex (MPFC), right inferior parietal lobule (IPL). Participants in the perfectionist condition (n = 43) were from a randomized controlled trial evaluating ACT for clinical perfectionism and low-perfectionist controls were undergraduate students (n = 12). Participants completed three tasks (editing a passage, mirror image tracing, circle tracing) using functional near-infrared spectroscopy (fNIRS) to measure neural activation. Results indicate that only the mirror image tracing task was associated with reduced HbT in the DLPFC and MPFC of the perfectionists whereas activation in the other tasks were relatively similar. There were no differences were observed in the right DLPFC, MPFC, and right IPL between the posttreatment perfectionist and non-perfectionist control groups. Our findings suggest an unclear relationship between neural activation and perfectionism