Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa.

Mutations leading to a reduced or loss of function in genes of the leptin-melanocortin system confer a risk for monogenic forms of obesity. Yet, gain of function variants in the melanocortin-4-receptor (MC4R) gene predispose to a lower BMI. In individuals with reduced body weight, we thus expected mutations leading to an enhanced function in the respective genes, like leptin (LEP) and MC4R.

Lipocalin 2 - mutation screen and serum levels in patients with anorexia nervosa or obesity and in lean individuals.

Context: The bone-derived adipokine lipocalin-2 is relevant for body weight regulation by stimulating the leptin-melanocortin pathway.

Objective: We aimed to (i) detect variants in the lipocalin-2 gene () which are relevant for body weight regulation and/or anorexia nervosa (AN); (ii) describe and characterize the impact of and variants on circulating lipocalin-2 level.

Methods: Sanger sequencing of the coding region of in 284 children and adolescents with severe obesity or 287 patients with anorexia nervosa.

PTBP2 - a gene with relevance for both Anorexia nervosa and body weight regulation.

Genetic factors are relevant for both eating disorders and body weight regulation. A recent genome-wide association study (GWAS) for anorexia nervosa (AN) detected eight genome-wide significant chromosomal loci. One of these loci, rs10747478, was also genome-wide and significantly associated with body mass index (BMI).

Development of Laterality and Bimanual Interference of Fine Motor Movements in Childhood and Adolescence.

Drawing and handwriting are fine motor skills acquired during childhood. We analyzed the development of laterality by comparing the performance of the dominant with the nondominant hand and the effect of bimanual interference in kinematic hand movement parameters (speed, automation, variability, and pressure). Healthy subjects (n = 187, 6-18 years) performed drawing tasks with both hands on a digitizing tablet followed by performance in the presence of an interfering task of the nondominant hand.

Effectiveness of the Stepping Stones Triple P group parenting program in reducing comorbid behavioral problems in children with autism.

Children with autism spectrum disorders often exhibit comorbid behavioral problems. These problems have an impact on the severity of the core symptoms, the progression of the disorder as well as on the families' quality of life. We evaluated the effectiveness of the Stepping Stones Triple P group parent training program as a supplementary intervention in the treatment of children with autism spectrum disorder.

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness, affecting 0.9-4% of women and 0.3% of men, with twin-based heritability estimates of 50-60%.

Effectiveness of the Stepping Stones Triple P Group Parenting Program as an Additional Intervention in the Treatment of Autism Spectrum Disorders: Effects on Parenting Variables.

Parents of children with autism spectrum disorders (ASD) often are faced with the challenges of difficult parenting situations. We explored the effectiveness of the Stepping Stones Triple P (SSTP) group parent training as an additional intervention in the treatment of ASD. Parents (n = 23) went through a waiting period and participated afterwards in the training program.

Serum visfatin concentration in acutely ill and weight-recovered patients with anorexia nervosa.

Visfatin is a recently described protein that is thought to regulate the process of adipocyte differentiation. Findings suggest that visfatin may be actively involved in the control of weight regulatory networks. However, to what extent and which role it plays in eating disorders is still poorly understood, as mixed results have been reported.

A randomized controlled multicentre trial on the treatment for ADHD in mothers and children: enrolment and basic characteristics of the study sample.

Parental ADHD may be a significant barrier to a successful treatment for the child's ADHD. The objective of our randomized controlled trial was to evaluate whether the treatment for maternal ADHD improves the efficacy of a behavioural parent training for children's ADHD. Patient enrolment and a description of the full analysis set (FAS) of mother-child pairs with non-missing baseline data are presented.

Smoking, but not malnutrition, influences promoter-specific DNA methylation of the proopiomelanocortin gene in patients with and without anorexia nervosa.

Objective: Our pilot study evaluates the impact of environmental factors, such as nutrition and smoking status, on epigenetic patterns in a disease-associated gene.

Method: We measured the effects of malnutrition and cigarette smoking on proopiomelanocortin (POMC) promoter-specific DNA methylation in female patients with and without anorexia nervosa (AN). POMC and its derived peptides (alpha melanocyte stimulating hormone and adrenocorticotropic hormone) are implicated in stress and feeding response.

Bioimpedance and bioimpedance vector analysis in patients with anorexia nervosa.

Objective: The utility of bioelectrical impedance analysis (BIA) in patients with anorexia nervosa (AN) is imperfectly defined. Furthermore, any advantage accrued by BIA with vector analysis (BIVA) is unknown.

Method: We conducted a retrospective analysis of 57 women with AN admitted to our service who underwent BIA and BIVA.

Genetic variation of the ghrelin activator gene ghrelin O-acyltransferase (GOAT) is associated with anorexia nervosa.

The gastrointestinal peptide hormone ghrelin promotes food intake and increases body weight and adiposity through activation of the growth hormone secretagogue receptor (GHSR1a). To promote its biological action ghrelin is acylated at its serine 3 residue by the recently discovered ghrelin O-acyltransferase (GOAT, a.k.

Preproenkephalin expression in peripheral blood mononuclear cells of acutely underweight and recovered patients with anorexia nervosa.

Background: The prohormone preproenkephalin (ppE) and its derived peptides are involved in leukocyte functioning as well as in the regulation of hunger and satiety. Various abnormalities of the immune and endocrine systems have been described in states of malnutrition such as anorexia nervosa (AN). We hypothesized that ppE expression in AN patients may vary depending on the state of the disorder and the extent of malnutrition.

Promoter specific DNA methylation and gene expression of POMC in acutely underweight and recovered patients with anorexia nervosa.

Proopiomelanocortin (POMC) and its derived peptides, in particular alpha-MSH, have been shown to play a crucial role in the regulation of hunger, satiety and energy homeostasis. Studies in patients with anorexia nervosa (AN) suggest an abnormal expression of appetite-regulating hormones. Hormone expression levels may be modulated by epigenetic mechanisms, which were recently shown to be implicated in the pathophysiology of eating disorders.

The 5-HTTLPR polymorphism, platelet serotonin transporter activity and platelet serotonin content in underweight and weight-recovered females with anorexia nervosa.

Serotonin (5-HT) pathways play an important role in the pathophysiology of anorexia nervosa (AN). In this study, we investigated functional characteristics of the platelet 5-HT transporter and platelet 5-HT content in AN patients at various stages of their illness in comparison to healthy control woman (HCW) controlling for the 5-HTTLPR deletion/insertion polymorphism and other confounding variables. Fasting blood samples of 58 acutely underweight AN patients (acAN, BMI = 15.

Serum brain-derived neurotrophic factor and peripheral indicators of the serotonin system in underweight and weight-recovered adolescent girls and women with anorexia nervosa.

Background: Brain-derived neurotrophic factor (BDNF) mutant mice show hyperphagia and hyperleptinemia. Animal and cell-culture experiments suggest multiple interrelations between BDNF and the serotonin (5-HT) system. We studied serum BDNF in patients with anorexia nervosa and its associations with peripheral indicators of the 5-HT system.

The role of leptin and cortisol in hyperactivity in patients with acute and weight-recovered anorexia nervosa.

Introduction: In food-restricted rats, leptin as well as corticotropin releasing factor attenuate semistarvation-induced hyperactivity (SIH). Results from studies in patients with anorexia nervosa (AN) showed an association between excessive physical activity (PA) and leptin. One recent report suggests a role for cortisol in PA.

Leptin and its associations with measures of psychopathology in patients with anorexia nervosa.

Apart from energy homeostasis leptin has been shown to be involved in a number of neuronal networks. The aim of this study was to investigate how the residual variance of leptin levels, after controlling for BMI, is linked to eating-disorder-specific psychopathology and sexual desire in patients with anorexia nervosa (AN) compared to healthy controls. The sample included 57 subjects with acute AN and 77 healthy controls.

Influence of age and movement complexity on kinematic hand movement parameters in childhood and adolescence.

Development of fine motor functions, especially drawing and handwriting, are crucial for performance in school, autonomy in everyday life and the general human development. A variety of neurological and psychiatric conditions in childhood and adolescence stunt the normal development of fine motor skills. We sought to define the normal development of the kinematic parameters of fine motor movement and determine the influence of gender, laterality of handedness and extracurricular training on fine motor skills.

S100B in underweight and weight-recovered patients with anorexia nervosa.

Anorexia nervosa (AN) commonly arises during adolescence, leading to interruptions of somatic and psychological development as well as to cortical atrophy and reductions of brain volume. While most brain changes shift towards normal with weight restoration, it is not certain whether they are related to the loss of brain cells, neuropil or merely due to fluid shifts. We measured S100B serum concentrations and psychometric characteristics in 34 patients with acute AN, 19 weight-recovered patients and 35 healthy control women (HCW).