Radiographic Progression in Sacroiliac Joints in Patients With Axial Spondyloarthritis: Results From a Five-Year International Observational Study.

Objective: To evaluate progression from nonradiographic (nr-) to radiographic axial spondyloarthritis (r-axSpA) over 5 years in patients with recently diagnosed (≤1 year) axSpA fulfilling the Assessment of SpondyloArthritis international Society (ASAS) classification criteria.

Methods: A prospsective, observational study (Patients with Axial Spondyloarthritis: Multi-Country Registry of Clinical Characteristics) was conducted in rheumatology practices in 29 countries. Baseline and follow-up radiographs of sacroiliac joints were centrally evaluated by three readers according to the grading system of the modified New York criteria for patients initially classified as nr-axSpA.

The construction and the initial validation of the Cognitive Bias Scale for the Personality Assessment Inventory.

This study describes the derivation and initial validation evidence of a novel Personality Assessment Inventory (PAI) scale designed to be sensitive to cognitive response bias, as defined by poor performance on performance validity tests (PVTs), in the context of neuropsychological assessment. The Cognitive Bias Scale (CBS) is a ten-item scale that was designed to discriminate between neuropsychological patients who passed or failed PVTs. In a sample of 306 consecutive mixed neuropsychological outpatients, the CBS was derived by initially selecting items that significantly discriminated participants who passed and failed two or more PVTs, with further item refinement utilizing Item Response Theory methods.

Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci.

Smoking is a major heritable and modifiable risk factor for many diseases, including cancer, common respiratory disorders and cardiovascular diseases. Fourteen genetic loci have previously been associated with smoking behaviour-related traits. We tested up to 235,116 single nucleotide variants (SNVs) on the exome-array for association with smoking initiation, cigarettes per day, pack-years, and smoking cessation in a fixed effects meta-analysis of up to 61 studies (up to 346,813 participants).

Meta-analysis of exome array data identifies six novel genetic loci for lung function.

Over 90 regions of the genome have been associated with lung function to date, many of which have also been implicated in chronic obstructive pulmonary disease. We carried out meta-analyses of exome array data and three lung function measures: forced expiratory volume in one second (FEV ), forced vital capacity (FVC) and the ratio of FEV to FVC (FEV /FVC). These analyses by the SpiroMeta and CHARGE consortia included 60,749 individuals of European ancestry from 23 studies, and 7,721 individuals of African Ancestry from 5 studies in the discovery stage, with follow-up in up to 111,556 independent individuals.

Metabolites of milk intake: a metabolomic approach in UK twins with findings replicated in two European cohorts.

Purpose: Milk provides a significant source of calcium, protein, vitamins and other minerals to Western populations throughout life. Due to its widespread use, the metabolic and health impact of milk consumption warrants further investigation and biomarkers would aid epidemiological studies.

Methods: Milk intake assessed by a validated food frequency questionnaire was analyzed against fasting blood metabolomic profiles from two metabolomic platforms in females from the TwinsUK cohort (n = 3559).

The Pharmacogenetic Footprint of ACE Inhibition: A Population-Based Metabolomics Study.

Angiotensin-I-converting enzyme (ACE) inhibitors are an important class of antihypertensives whose action on the human organism is still not fully understood. Although it is known that ACE especially cleaves COOH-terminal dipeptides from active polypeptides, the whole range of substrates and products is still unknown. When analyzing the action of ACE inhibitors, effects of genetic variation on metabolism need to be considered since genetic variance in the ACE gene locus was found to be associated with ACE-concentration in blood as well as with changes in the metabolic profiles of a general population.

Alterations in Lipid and Inositol Metabolisms in Two Dopaminergic Disorders.

Background: Serum metabolite profiling can be used to identify pathways involved in the pathogenesis of and potential biomarkers for a given disease. Both restless legs syndrome (RLS) and Parkinson`s disease (PD) represent movement disorders for which currently no blood-based biomarkers are available and whose pathogenesis has not been uncovered conclusively. We performed unbiased serum metabolite profiling in search of signature metabolic changes for both diseases.

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.

Genetic association studies have identified 21 loci associated with atopic dermatitis risk predominantly in populations of European ancestry. To identify further susceptibility loci for this common, complex skin disease, we performed a meta-analysis of >15 million genetic variants in 21,399 cases and 95,464 controls from populations of European, African, Japanese and Latino ancestry, followed by replication in 32,059 cases and 228,628 controls from 18 studies. We identified ten new risk loci, bringing the total number of known atopic dermatitis risk loci to 31 (with new secondary signals at four of these loci).

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

Menopause timing has a substantial impact on infertility and risk of disease, including breast cancer, but the underlying mechanisms are poorly understood. We report a dual strategy in ∼70,000 women to identify common and low-frequency protein-coding variation associated with age at natural menopause (ANM). We identified 44 regions with common variants, including two regions harboring additional rare missense alleles of large effect.

Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality.

Genome-wide association studies with metabolic traits (mGWAS) uncovered many genetic variants that influence human metabolism. These genetically influenced metabotypes (GIMs) contribute to our metabolic individuality, our capacity to respond to environmental challenges, and our susceptibility to specific diseases. While metabolic homeostasis in blood is a well investigated topic in large mGWAS with over 150 known loci, metabolic detoxification through urinary excretion has only been addressed by few small mGWAS with only 11 associated loci so far.

Rare coding variants and X-linked loci associated with age at menarche.

More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only ∼3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency protein-coding variants and X-chromosome variants. Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at menarche (minor allele frequencies 0.

Health locus of control and self-efficacy predict back pain rehabilitation outcomes.

Introduction: Chronic back pain treatments have generally been costly and/or ineffective despite advances in medical technology. Patient selection and factors intrinsic to patients, including beliefs and behaviors, have been increasingly looked upon as possible predictive factors for success following multidisciplinary intervention for chronic back pain. The current study investigated the value of using patients' perceived control over health changes (health locus of control) and their perceived ability to engage in pain management behaviors (pain-related self-efficacy) to predict physical and mental health outcomes.

Thought intrusion among adults living with complex regional pain syndrome.

Purpose: This study investigated the presence and influence of intrusive thoughts among adults previously diagnosed with complex regional pain syndrome.

Method: The present study used an Internet-based survey completed by a sample (N = 326) from two national organizations.

Results: After controlling for age, gender, and pain level, intrusive thoughts were significantly related to disability and health-related quality of life.

Anticipating posttraumatic growth from cancer: patients' and collaterals' experiences.

Posttraumatic growth has been demonstrated to occur following the diagnosis and treatment of cancer. Still unknown is whether patients expect such growth, how growth is perceived at early points in time that follow the cancer experience, and whether patient reports of growth are corroborated by others. Participants were 87 patients and 55 collaterals who reported their anticipation of growth pretreatment and their perceived growth at a 9-month follow-up.

Spiritual growth and decline among patients with cancer.

Purpose/objectives: To investigate spiritual transformation among patients with cancer.

Design: Longitudinal.

Setting: A university medical center in the midwestern United States.

Metabolomic profiles in individuals with negative affectivity and social inhibition: a population-based study of Type D personality.

Background: Individuals with negative affectivity who are inhibited in social situations are characterized as distressed, or Type D, and have an increased risk of cardiovascular disease (CVD). The underlying biomechanisms that link this psychological affect to a pathological state are not well understood. This study applied a metabolomic approach to explore biochemical pathways that may contribute to the Type D personality.

A review of psychosocial factors in complex regional pain syndrome.

Complex regional pain syndrome (CRPS) is a disabling pain condition poorly understood by medical professionals. Because CRPS is particularly enigmatic, and has significant impact on patient function, researchers have examined psychological processes present among patients with this diagnosis. This systematic review examines psychosocial factors associated with CRPS, both predictors and sequelae.

Body fat free mass is associated with the serum metabolite profile in a population-based study.

Objective: To characterise the influence of the fat free mass on the metabolite profile in serum samples from participants of the population-based KORA (Cooperative Health Research in the Region of Augsburg) S4 study.

Subjects And Methods: Analyses were based on metabolite profile from 965 participants of the S4 and 890 weight-stable subjects of its seven-year follow-up study (KORA F4). 190 different serum metabolites were quantified in a targeted approach including amino acids, acylcarnitines, phosphatidylcholines (PCs), sphingomyelins and hexose.

Human metabolic individuality in biomedical and pharmaceutical research.

Genome-wide association studies (GWAS) have identified many risk loci for complex diseases, but effect sizes are typically small and information on the underlying biological processes is often lacking. Associations with metabolic traits as functional intermediates can overcome these problems and potentially inform individualized therapy. Here we report a comprehensive analysis of genotype-dependent metabolic phenotypes using a GWAS with non-targeted metabolomics.

Influence of coping style on symptom interference among adult recipients of hematopoietic stem cell transplantation.

Purpose/objectives: To investigate the influence of coping style on interference caused by a variety of common post-treatment symptoms after hematopoietic stem cell transplantation.

Design: Longitudinal; secondary analysis of data from the original study that examined health-related quality-of-life variables (e.g.

Questionnaire-based self-reported nutrition habits associate with serum metabolism as revealed by quantitative targeted metabolomics.

Nutrition plays an important role in human metabolism and health. However, it is unclear in how far self-reported nutrition intake reflects de facto differences in body metabolite composition. To investigate this question on an epidemiological scale we conducted a metabolomics study analyzing the association of self-reported nutrition habits with 363 metabolites quantified in blood serum of 284 male participants of the KORA population study, aged between 55 and 79 years.