Anna Paul

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

We conducted a genome-wide association study for nonsyndromic cleft lip with or without cleft palate (NSCL/P) in 401 affected individuals and 1,323 controls, with replication in an independent sample of 793 NSCL/P triads. We report two new loci associated with NSCL/P at 17q22 (rs227731, combined P = 1.07 × 10−8, relative risk in homozygotes = 1.84, 95% CI 1.34–2.53) and 10q25.3 (rs7078160, combined P = 1.92 × 10−8, relative risk in homozygotes = 2.17, 95% CI 1.32–3.56).

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

We have conducted the first meta-analyses for nonsyndromic cleft lip with or without cleft palate (NSCL/P) using data from the two largest genome-wide association studies published to date. We confirmed associations with all previously identified loci and identified six additional susceptibility regions (1p36, 2p21, 3p11.1, 8q21.3, 13q31.1 and 15q22). Analysis of phenotypic variability identified the first specific genetic risk factor for NSCLP (nonsyndromic cleft lip plus palate) (rs8001641; PNSCLP = 6.51 × 10−11; homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84–3.16).

Mindfulness-based stress reduction for breast cancer— a systematic review and meta-analysis

OBJECTIVE The aim of this systematic review and meta-analysis was to assess the effectiveness of mindfulness-based stress reduction (mbsr) and mindfulness-based cognitive therapy (mbct) in patients with breast cancer. METHODS The medline, Cochrane Library, embase, cambase, and PsycInfo databases were screened through November 2011. The search strategy combined keywords for mbsr and mbct with keywords for breast cancer. Randomized controlled trials (rcts) comparing mbsr or mbct with control conditions in patients with breast cancer were included. Two authors independently used the Cochrane risk of bias tool to assess risk of bias in the selected studies. Study characteristics and outcomes were extracted by two authors independently. Primary outcome measures were health-related quality of life and psychological health. If at least two studies assessing an outcome were available, standardized mean differences (smds) and 95% confidence intervals (cis) were calculated for that outcome. As a measure of heterogeneity, I(2) was calculated. RESULTS Three rcts with a total of 327 subjects were included. One rct compared mbsr with usual care, one rct compared mbsr with free-choice stress management, and a three-arm rct compared mbsr with usual care and with nutrition education. Compared with usual care, mbsr was superior in decreasing depression (smd: -0.37; 95% ci: -0.65 to -0.08; p = 0.01; I(2) = 0%) and anxiety (smd: -0.51; 95% ci: -0.80 to -0.21; p = 0.0009; I(2) = 0%), but not in increasing spirituality (smd: 0.27; 95% ci: -0.37 to 0.91; p = 0.41; I(2) = 79%). CONCLUSIONS There is some evidence for the effectiveness of mbsr in improving psychological health in breast cancer patients, but more rcts are needed to underpin those results.

Effects of Mind-Body Therapy on Quality of Life and Neuroendocrine and Cellular Immune Functions in Patients with Ulcerative Colitis

Background: The aim of this study was to investigate the effects of mind-body therapy on neuroendocrine and cellular immune measures, health-related quality of life and disease activity in patients with ulcerative colitis (UC) in remission. Methods: Thirty UC patients in remission or with low disease activity were randomly assigned to an intervention group (n = 15) or a usual-care waiting control group (n = 15). Intervention consisted of a structured 60-hour training program over 10 weeks which included stress management training, moderate exercise, Mediterranean diet, behavioral techniques and self-care strategies. Quality of life, perceived stress and disease activity were assessed with standardized questionnaires (IBDQ, SF-36, PSS, CAI). In addition, the distribution of circulating lymphocytes and lymphocyte subsets as well as the β-adrenergic modulation of TNF-α production in vitro were analyzed. Urine catecholamines and plasma cortisol, prolactin and growth hormone were measured pre- and postinterventionally, and were compared with a healthy control group (n = 10). Results: In response to therapy, patients in the intervention group showed significantly greater improvement in the SF-36 scale Mental Health and the Psychological Health Sum score compared with changes observed in the usual-care waiting control group. Patients in the intervention group showed significantly greater improvement on the IBDQ scale Bowel Symptoms compared with the control group. However, no significant group differences in circulating lymphocyte subsets or endocrine parameters were observed in response to therapy. In addition, no significant effects of intervention on either the basal levels of TNF-α or the suppressive action of the β-adrenergic agonist isoproterenol on TNF-α production were observed. Conclusion: Mind-body therapy may improve quality of life in patients with UC in remission, while no effects of therapy on clinical or physiological parameters were found, which may at least in part be related to selective patient recruitment.

Yoga for breast cancer patients and survivors: a systematic review and meta-analysis

BackgroundMany breast cancer patients and survivors use yoga to cope with their disease. The aim of this review was to systematically assess and meta-analyze the evidence for effects of yoga on health-related quality of life and psychological health in breast cancer patients and survivors.MethodsMEDLINE, PsycInfo, EMBASE, CAMBASE, and the Cochrane Library were screened through February 2012. Randomized controlled trials (RCTs) comparing yoga to controls were analyzed when they assessed health-related quality of life or psychological health in breast cancer patients or survivors. Risk of bias was assessed using the Cochrane risk of bias tool. Standardized mean differences (SMD) and 95% confidence intervals (CI) were calculated.ResultsTwelve RCTs with a total of 742 participants were included. Seven RCTs compared yoga to no treatment; 3 RCTs compared yoga to supportive therapy; 1 RCT compared yoga to health education; and 1 RCT compared a combination of physiotherapy and yoga to physiotherapy alone. Evidence was found for short-term effects on global health-related quality of life (SMD = 0.62 [95% CI: 0.04 to 1.21]; P = 0.04), functional (SMD = 0.30 [95% CI: 0.03 to 0.57), social (SMD = 0.29 [95% CI: 0.08 to 0.50]; P < 0.01), and spiritual well-being (SMD = 0.41 [95% CI: 0.08; 0.74]; P = 0.01). These effects were, however, only present in studies with unclear or high risk of selection bias. Short-term effects on psychological health also were found: anxiety (SMD = −1.51 [95% CI: -2.47; -0.55]; P < 0.01), depression (SMD = −1.59 [95% CI: -2.68 to −0.51]; P < 0.01), perceived stress (SMD = −1.14 [95% CI:-2.16; -0.12]; P = 0.03), and psychological distress (SMD = −0.86 [95% CI:-1.50; -0.22]; P < 0.01). Subgroup analyses revealed evidence of efficacy only for yoga during active cancer treatment but not after completion of active treatment.ConclusionsThis systematic review found evidence for short-term effects of yoga in improving psychological health in breast cancer patients. The short-term effects on health-related quality of life could not be clearly distinguished from bias. Yoga can be recommended as an intervention to improve psychological health during breast cancer treatment.

Psychological and quality-of-life outcomes from a comprehensive stress reduction and lifestyle program in patients with coronary artery disease: results of a randomized trial.

Background: Stress reduction and comprehensive lifestyle modification programs have improved atherosclerosis and cardiac risk factors in earlier trials. Little is known about the impact of such programs on quality-of-life (QoL) and psychological outcomes. Given recent significant improvements in cardiac care, we evaluated the current benefit of stress reduction/lifestyle modification on QoL and emotional distress in patients with coronary artery disease (CAD). Methods: 101 patients (59.4 ± 8.6 years, 23 female) with CAD were randomized to a 1-year lifestyle/stress management program (n = 48) or written advice (n = 53). QoL and psychological outcomes were assessed with the SF-36, Beck Depression, Spielberger State/Trait Anxiety, Spielberger State/Trait Anger and Perceived Stress Inventories. Group repeated-measures analyses of variance were performed for all measures. Results: Adherence to the program was excellent (daily relaxation practice 39 ± 5vs. 5 ± 8 min, respectively; p < 0.001). Both groups improved comparably in most dimensions of QoL, and significantly greater improvements for the lifestyle group were found for physical function and physical sum score (p = 0.046 and p = 0.045). Depression, anxiety, anger and perceived stress were reduced similarly in both groups. However, intervention × gender interaction effects revealed greater benefits among women in the lifestyle intervention vs. advice group for depression and anger (p = 0.025 and p = 0.040), but no effects for men. Conclusions: A comprehensive lifestyle modification and stress management program did not improve psychological outcomes in medically stable CAD patients. The program did appear to confer psychological benefits for women but not men. Further trials should investigate gender-related differences in coronary patient responses to behavioral interventions.

Effects of a comprehensive lifestyle modification program on quality-of-life in patients with ulcerative colitis: A twelve-month follow-up

Objective. To analyze the effects of a comprehensive lifestyle modification program on health-related quality-of-life, psychological distress, and clinical parameters in patients with ulcerative colitis (UC) 3- and 12 months after completion of the program. Material and methods. Sixty patients with UC in clinical remission or with low disease activity were randomly assigned to an intervention group or a usual-care control group. Comprehensive lifestyle modification consisted of a structured 60-h training program over a period of 10 weeks which included stress management training, psychoeducational elements, and self-care strategies. Quality-of-life, psychological distress, and clinical disease activity were assessed with standardized questionnaires (Inflammatory Bowel Disease Questionnaire (IBDQ); the MOS Short-Form 36 (SF-36); the Brief Symptom Inventory (BSI), and the Colitis Activity Index (CAI)) at baseline, and 3 months and 12 months after comprehensive lifestyle modification. Results. Three months after comprehensive lifestyle modification, patients in the intervention group showed significantly greater improvement in the SF-36 scale physical function (p=0.0175), and a significantly greater reduction in anxiety scores, measured with the BSI (p=0.0294). Use of relaxation techniques was a significant predictor of improvement in the psychological sum score after 3 months of therapy (p=0.034). Though 80% of patients with an initial IBDQ score <170 in the intervention group showed an improvement of >16 points after 3 months, no significant effects of the intervention were found on the IBDQ scales, or on clinical disease parameters, including CAI scores, self-assessed disease activity, hospitalizations, or medical consultations. Conclusions. These results are consistent with possible short-term benefits of a comprehensive lifestyle modification program on some aspects of quality-of-life and emotional well-being, but no effects were discernable 12 months after completion of therapy. Comprehensive lifestyle modification had no effect on clinical disease variables. The generalizability of these data is limited because of the inclusion of patients with a relatively low disease activity who were interested in integrative medicine.

Can yoga improve fatigue in breast cancer patients? A systematic review

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Hypnosis in breast cancer care: a systematic review of randomized controlled trials.

Introduction. Many breast cancer patients and survivors experience pain and emotional stress related to their disease, its diagnostic procedures, or treatment. Hypnosis has long been used for the treatment of such symptoms. The aim of this review was to systematically assess the effectiveness of hypnosis in women with breast cancer, breast cancer survivors, and in women undergoing diagnostic breast biopsy. Methods. PubMed, Scopus, the Cochrane Library, PsycINFO, and CAMBASE were screened through February 2014 for randomized controlled trials (RCTs) of hypnosis in women with breast cancer or undergoing diagnostic breast biopsy. RCTs on postmenopausal women without a history of breast cancer were also eligible. Primary outcomes were pain, distress, fatigue, nausea/vomiting, and hot flashes. Safety was defined as secondary outcome measure. Risk of bias was assessed by 2 reviewers independently using the Cochrane Risk of Bias Tool. Results. Thirteen RCTs with 1357 patients were included. In women undergoing diagnostic breast biopsy (3 RCTs), hypnosis positively influenced pain and distress; 1 RCT on breast cancer surgery found effects of hypnosis on pain, distress, fatigue, and nausea. For women undergoing radiotherapy (3 RCTs), hypnosis combined with cognitive–behavioral therapy improved distress and fatigue. In 3 RCTs on women with and without a history of breast cancer experiencing hot flashes, hypnosis improved hot flashes and distress. Three RCTs on women with metastatic breast cancer found effects on pain and distress. Conclusions. This systematic review found sparse but promising evidence for the effectiveness of hypnosis in breast cancer care. While more research is needed to underpin these results, hypnosis can be considered as an ancillary intervention in the management of breast cancer–related symptoms.

Can a Multimodal Mind-Body Program Enhance the Treatment Effects of Physical Activity in Breast Cancer Survivors With Chronic Tumor-Associated Fatigue? A Randomized Controlled Trial

Background. Chronic fatigue is one of the most restricting symptoms following primary breast cancer treatment, but clinical studies on symptom management are rare. The objective was to evaluate the impact of a multimodal mind–body program (MMMT), including moderate physical activity as compared with a walking intervention alone, on chronic fatigue symptoms of women with stage I to IIIA breast cancer. Patients and Methods. Sixty-four women (mean age = 56.7 years) suffering from chronic fatigue after active tumor treatment were randomly assigned to either an experimental or a control (n = 32 each) intervention (10 weeks). Fatigue, quality of life (QoL), functional well-being, anxiety, and depression were measured with standard questionnaires at baseline, after 10 weeks, and after 3 months. Results. Compared with baseline, both groups had reduced fatigue scores after treatment without any significant difference between groups (posttreatment, Δ = −0.3, confidence interval = −1.6 to 1.0, P = .678; follow-up, Δ = −0.4, confidence interval = −1.8 to 0.9, P = .510). All patients also improved regarding QoL and general functional well-being. Conclusion. Since both interventions reduced fatigue symptoms and enhanced QoL to a similar extent, we observed no verifiable add-on effect of the MMMT regarding fatigue symptoms. Considering the higher costs with additional expenditure related to MMMT, home-based walking intervention is recommended.