Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m(2) in adults and ≤ -2 standard deviations from the mean in children, is the main sign of a series of heterogeneous clinical conditions including failure to thrive, feeding and eating disorder and/or anorexia nervosa. In contrast to obesity, few genetic variants underlying these clinical conditions have been reported. We previously showed that hemizygosity of a ∼600-kilobase (kb) region on the short arm of chromosome 16 causes a highly penetrant form of obesity that is often associated with hyperphagia and intellectual disabilities. Here we show that the corresponding reciprocal duplication is associated with being underweight. We identified 138 duplication carriers (including 132 novel cases and 108 unrelated carriers) from individuals clinically referred for developmental or intellectual disabilities (DD/ID) or psychiatric disorders, or recruited from population-based cohorts. These carriers show significantly reduced postnatal weight and BMI. Half of the boys younger than five years are underweight with a probable diagnosis of failure to thrive, whereas adult duplication carriers have an 8.3-fold increased risk of being clinically underweight. We observe a trend towards increased severity in males, as well as a depletion of male carriers among non-medically ascertained cases. These features are associated with an unusually high frequency of selective and restrictive eating behaviours and a significant reduction in head circumference. Each of the observed phenotypes is the converse of one reported in carriers of deletions at this locus. The phenotypes correlate with changes in transcript levels for genes mapping within the duplication but not in flanking regions. The reciprocal impact of these 16p11.2 copy-number variants indicates that severe obesity and being underweight could have mirror aetiologies, possibly through contrasting effects on energy balance.

Alexithymia and depression in eating disorders.

We compared alexithymia and depression ratings for non-hospitalized women meeting DSM-IV criteria for anorexia nervosa (n=32) and bulimia nervosa (n=32) to ratings for healthy women (n=74). Alexithymia was evaluated by the Toronto Alexithymia Scale (TAS-20) and depression by the Hospital Anxiety and Depression Scale (HAD). TAS and HAD scores were significantly higher in anorexic compared to bulimic patients, although these two scales were significantly and positively correlated (r=0.53, P=0.001). After taking depression into account as a confounding variable, rates of alexithymia did not vary according to the type of eating disorder (anorexia or bulimia).

Absence of association between specific common variants of the obesity-related FTO gene and psychological and behavioral eating disorder phenotypes.

Extensive population-based genome-wide association studies have identified an association between the FTO gene and BMI; however, the mechanism of action is still unknown. To determine whether FTO may influence weight regulation through psychological and behavioral factors, seven single-nucleotide polymorphisms (SNPs) of the FTO gene were genotyped in 1,085 individuals with anorexia nervosa (AN) and 677 healthy weight controls from the international Price Foundation Genetic Studies of Eating Disorders. Each SNP was tested in association with eating disorder phenotypes and measures that have previously been associated with eating behavior pathology: trait anxiety, harm-avoidance, novelty seeking, impulsivity, obsessionality, compulsivity, and concern over mistakes. After appropriate correction for multiple comparisons, no significant associations between individual FTO gene SNPs and eating disorder phenotypes or related eating behavior pathology were identified in cases or controls. Thus, this study found no evidence that FTO gene variants associated with weight regulation in the general population are associated with eating disorder phenotypes in AN participants or matched controls. © 2011 Wiley-Liss, Inc.

El otro cuerpo de la identidad: análisis de modelos culturales de los trastornos del cuerpo femenino

Justificación: El presente estudio se centra en la construcción de la identidad corporal en la anorexia nerviosa, desde una perspectiva social y cultural y tiene en cuenta las aportaciones de diferentes autores desde la perspectiva feminista de la salud y desde la antropología, dado que ambos planteamientos adoptan una visión mas amplia de los trastornos mentales y proponen comprenderlos en el contexto del malestar en la cultura. Objetivo: Analizar y comparar las variables que configuran los modelos culturales en nuestra sociedad sobre la identidad femenina, construida sobre todo a partir de la corporalidad y a través de la experiencia de mujeres diagnosticadas de anorexia. Metodología: Investigación cualitativa. Las técnicas básicas utilizadas han sido las entrevistas en profundidad y la observación participante. Resultados: Tras el análisis de las entrevistas se evidenciaron diferentes categorías que se han agrupado en tres grandes apartados la percepción de la identidad, la percepción social del cuerpo y la aceptabilidad del propio cuerpo. Conclusión: Podríamos decir que los modelos de identidad femenina que plantea la sociedad respecto a la imagen ideal y a los medios para conseguirlo producen un conflicto del que resulta difícil escapar tanto a las mujeres catalogadas de normales, como aquellas diagnosticadas de anorexia nerviosa

El otro cuerpo de la identidad: análisis de modelos culturales de los trastornos del cuerpo femenino

Justificación: El presente estudio se centra en la construcción de la identidad corporal en la anorexia nerviosa, desde una perspectiva social y cultural y tiene en cuenta las aportaciones de diferentes autores desde la perspectiva feminista de la salud y desde la antropología, dado que ambos planteamientos adoptan una visión mas amplia de los trastornos mentales y proponen comprenderlos en el contexto del malestar en la cultura. Objetivo: Analizar y comparar las variables que configuran los modelos culturales en nuestra sociedad sobre la identidad femenina, construida sobre todo a partir de la corporalidad y a través de la experiencia de mujeres diagnosticadas de anorexia. Metodología: Investigación cualitativa. Las técnicas básicas utilizadas han sido las entrevistas en profundidad y la observación participante. Resultados: Tras el análisis de las entrevistas se evidenciaron diferentes categorías que se han agrupado en tres grandes apartados la percepción de la identidad, la percepción social del cuerpo y la aceptabilidad del propio cuerpo. Conclusión: Podríamos decir que los modelos de identidad femenina que plantea la sociedad respecto a la imagen ideal y a los medios para conseguirlo producen un conflicto del que resulta difícil escapar tanto a las mujeres catalogadas de normales, como aquellas diagnosticadas de anorexia nerviosa

Decrease in luteinizing hormone pulse frequency during a five-hour peripheral Ghrelin infusion in the ovariectomized rhesus monkey

RESUME : La ghrelin est un peptide sécrété par l'estomac jouant un rôle important dans le maintien de l'homéostasie énergétique. Ses taux plasmatiques sont augmentés durant des périodes prolongées de déficit nutritionnel. Une carence énergétique étant souvent associée à une inhibition de l'axe hypothalamo-hypophyso-ovarien, nous avons postulé que l'augmentation des taux circulant de ghrelin pourrait diminuer l'activité du générateur hypothalamique de pulsations de GnRH. Le protocole expérimental impliquait des singes rhésus adultes ovariectomisés (n=6) qui dans un premier temps recevaient durant 3 heures une perfusion de solution saline physiologique afin de mesurer la sécrétion pulsatile de LH à l'état basai. L'expérience se poursuivait alors durant 5 heures par une perfusion intraveineuse de ghrelin humaine (un bolus de 100-150µg suivi par 100-150µg/h) ou le maintien de la perfusion de solution saline physiologique. Des échantillons de sang étaient prélevés toutes les 15 minutes. La perfusion de ghrelin a augmenté ses taux plasmatiques de 2.9 fois par rapport aux valeurs de base. L'administration de ghrelin a significativement diminué la fréquence des pulsations de LH (de 0.89±0.07/h à l'état basai à 0.57±0.10/h durant la perfusion de ghrelin; p<0.05, moyenne±SEM), alors que la fréquence des pulsations de LH est restée inchangée durant la perfusion de solution physiologique. L'amplitude des pulsations de LH n'a pas été modifiée. La ghrelin a également stimulé de manière significative la sécrétion de cortisol et d'hormone de croissance, mais n'a toutefois pas eu d'effet sur la sécrétion de leptin. En conclusion, la ghrelin peut inhiber l'activité du générateur de pulsations de GnRH et pourrait ainsi contribuer à l'inhibition de l'axe de la reproduction observée durant des périodes de carence nutritionnelle, comme notamment chez les patientes souffrant d'anorexie mentale. La ghrelin peut également activer l'axe hypothalamo-hypophyso-surrénalien. Le lien dans cette situation entre l'activation de l'axe surrénalien et l'inhibition de l'axe de la reproduction reste à démontrer. ABSTRACT: Ghrelin, a nutrition-related peptide secreted by the stomach, is elevated during prolonged food deprivation. Because undernutrition is often associated with a suppressed reproductive axis, we have postulated that increasing peripheral ghrelin levels will decrease the activity of the GnRH pulse generator. Adult ovariectomized rhesus monkeys (n = 6) were subjected to a 5-h iv human ghrelin (100- to 150µg bolus followed by 100-150 µg/h) or saline infusion, preceded by a 3-h saline infusion to establish baseline pulsatile LH release. Blood samples were collected at 15-min intervals throughout the experiment. Ghrelin infusion increased plasma ghrelin levels 2.9-fold of baseline. Ghrelin significantly decreased LH pulse frequency (from 0.89 ± 0.07/h in baseline to 0.57 ± 0.10/h during ghrelin infusion; P<0.05, mean ± SEM), whereas LH pulse frequency remained unchanged during saline treatment. LH pulse amplitude was not affected. Ghrelin also significantly stimulated both Cortisol and GH release, but had no effect on leptin. We conclude that ghrelin can inhibit GnRH pulse activity and may thereby mediate the suppression of the reproductive system observed in conditions of undernutrition, such as in anorexia nervosa. Ghrelin also activates the adrenal axis, but the relevance of this to the inhibition of GnRH pulse frequency remains to be established.

Personality trait risk factors for attempted suicide among young women with eating disorders.

OBJECTIVE: - Clinical observations and a review of the literature led us to hypothesize that certain personality and character traits could provide improved understanding, and thus improved prevention, of suicidal behaviour among young women with eating disorders. METHOD: - The clinical group consisted of 152 women aged between 18 and 24 years, with DSM-IV anorexia nervosa/restrictive type (AN-R = 66), anorexia nervosa/purging type (AN-P = 37), bulimia nervosa/non-purging type (BN-NP = 9), or bulimia nervosa/purging type (BN-P = 40). The control group consisted of 140 subjects. The assessment measures were the Minnesota Multiphasic Personality Inventory-second version (MMPI-2) scales and subscales, the Beck Depression Inventory (BDI) used to control for current depressive symptoms, plus a specific questionnaire concerning suicide attempts. RESULTS: - Suicide attempts were most frequent in subjects with purging behaviour (30.0% for BN-P and 29.7% for AN-P). Those attempting suicide among subjects with eating disorders were mostly students (67.8%). For women with AN-R the scales for 'Depression' and 'Antisocial practices' represented significant suicidal risk, for women with AN-P the scales for 'Hysteria', 'Psychopathic deviate', 'Shyness/Self-consciousness', 'Antisocial Practices', 'Obsessiveness' and 'Low self-esteem' were risk indicators and for women with BN-P the 'Psychasthenia', 'Anger' and 'Fears' scales were risk indicators. CONCLUSION: - This study provides interesting results concerning the personality traits of young women with both eating disorders and suicidal behaviour. Students and those with purging behaviour are most at risk. Young women should be given more attention with regard to the risk of suicide attempts if they: (a). have AN-R with a tendency to self-punishment and antisocial conduct, (b). have AN-P with multiple physical complaints, are not at ease in social situations and have antisocial behaviour, or (c). if they have BN-P and tend to be easily angered with obsessive behaviour and phobic worries. The MMPI-2 is an interesting assessment method for the study of traits indicating a risk of suicidal behaviour in young subjects, after controlling for current depressive pathology.

El otro cuerpo de la identidad: análisis de modelos culturales de los trastornos del cuerpo femenino

Justificación: El presente estudio se centra en la construcción de la identidad corporal en la anorexia nerviosa, desde una perspectiva social y cultural y tiene en cuenta las aportaciones de diferentes autores desde la perspectiva feminista de la salud y desde la antropología, dado que ambos planteamientos adoptan una visión mas amplia de los trastornos mentales y proponen comprenderlos en el contexto del malestar en la cultura. Objetivo: Analizar y comparar las variables que configuran los modelos culturales en nuestra sociedad sobre la identidad femenina, construida sobre todo a partir de la corporalidad y a través de la experiencia de mujeres diagnosticadas de anorexia. Metodología: Investigación cualitativa. Las técnicas básicas utilizadas han sido las entrevistas en profundidad y la observación participante. Resultados: Tras el análisis de las entrevistas se evidenciaron diferentes categorías que se han agrupado en tres grandes apartados la percepción de la identidad, la percepción social del cuerpo y la aceptabilidad del propio cuerpo. Conclusión: Podríamos decir que los modelos de identidad femenina que plantea la sociedad respecto a la imagen ideal y a los medios para conseguirlo producen un conflicto del que resulta difícil escapar tanto a las mujeres catalogadas de normales, como aquellas diagnosticadas de anorexia nerviosa

El otro cuerpo de la identidad: análisis de modelos culturales de los trastornos del cuerpo femenino

Justificación: El presente estudio se centra en la construcción de la identidad corporal en la anorexia nerviosa, desde una perspectiva social y cultural y tiene en cuenta las aportaciones de diferentes autores desde la perspectiva feminista de la salud y desde la antropología, dado que ambos planteamientos adoptan una visión mas amplia de los trastornos mentales y proponen comprenderlos en el contexto del malestar en la cultura. Objetivo: Analizar y comparar las variables que configuran los modelos culturales en nuestra sociedad sobre la identidad femenina, construida sobre todo a partir de la corporalidad y a través de la experiencia de mujeres diagnosticadas de anorexia. Metodología: Investigación cualitativa. Las técnicas básicas utilizadas han sido las entrevistas en profundidad y la observación participante. Resultados: Tras el análisis de las entrevistas se evidenciaron diferentes categorías que se han agrupado en tres grandes apartados la percepción de la identidad, la percepción social del cuerpo y la aceptabilidad del propio cuerpo. Conclusión: Podríamos decir que los modelos de identidad femenina que plantea la sociedad respecto a la imagen ideal y a los medios para conseguirlo producen un conflicto del que resulta difícil escapar tanto a las mujeres catalogadas de normales, como aquellas diagnosticadas de anorexia nerviosa

Mood disorders in eating disorder patients: Prevalence and chronology of ONSET.

OBJECTIVES: In a clinical population, we estimated the frequency of mood disorders among 271 patients suffering from Anorexia Nervosa (AN) and Bulimia Nervosa (BN) in comparison to a control group matched for age and gender. METHOD: The frequency of mood disorders was measured using the Mini International Neuropsychiatric Interview (MINI), DSM-IV version. RESULTS: Mood disorders were more frequent among eating disorder (ED) patients than among controls, with a global prevalence of the order of 80% for each ED group. The majority of the mood disorders comorbid with ED were depressive disorders (MDD and dysthymia). The relative chronology of onset of these disorders was equivocal, because mood disorders in some cases preceded and in others followed the onset of the eating disorders. LIMITATIONS: Our sample was characterized by patients with severe ED and high comorbidities, and thus do not represent the entire population of AN or BN. This also may have resulted in an overestimation of prevalence. CONCLUSION: Mood disorders appear significantly more frequently in patients seeking care for ED than in controls. These results have implications for the assessment and treatment of ED patients, and for the aetio-pathogenesis of these disorders.

Eating disorders, weight perception, and dieting in adolescence

Background: Eating disorders are serious psychiatric disorders, which usually have their onset in adolescence. Body dissatisfaction and dieting, both common among adolescents, are recognised risk factors for eating disorders. The aim of the present study was to assess the prevalence of eating disorders in the general adolescent population, assess the risk of developing eating disorders in subgroups of dieters, and analyse longitudinal concomitants of incorrect weight perception. Method: A prospective follow-up study on 595 adolescents, aged 15 at baseline, was conducted in western Finland. The study comprised questionnaires directed at the whole study population and subsequent personal interviews with adolescents found to be screen-positive for eating disorders, at both baseline and three-year follow-up. Results: The lifetime prevalence rates for 18 year old females were 2.6 % for anorexia nervosa, 0.4 for bulimia nervosa, and 9.0 % for eating disorder not otherwise specified (EDNOS). No prevalent case of DSM-IV eating disorders was found among the male participants. Eating disorders, as well as depressive symptoms, social anxiety, and low self-esteem, was more prevalent among females who perceived themselves as being overweight, despite being normal or underweight, when compared to females with a correct weight perception. An incorrect weight perception was associated in males with social anxiety. Female adolescents dieting due to psychological distress, rather than vanity or overweight, had a fifteen-fold risk of developing an eating disorder. Conclusions: Eating disorders are common among female adolescents, and adolescents choosing to diet due to psychological distress show a markedly increased risk of developing an eating disorder. Promotion of general well-being as well as the prevention of body dissatisfaction and misdirected dieting, accompanied by early detection and proper treatment of eating disorders, is needed to reduce the incidence of and facilitate recovery in adolescents suffering from eating disorders.

Hampaiston kuluminen

Tutkielma käsittelee hampaiden kulumista potilastapauksen avulla. Kyseessä on kirjallisuuskatsaus hampaiston eri kulumistyypeistä: eroosiosta, attritiosta, abraasiosta ja abfraktiosta, sekä myös niiden hoidosta ja ehkäisystä. Tutkielmassa käsitellään lisäksi hampaiston kulumisen etiologisia tekijöitä, joihin kuuluvat muun muassa syömishäiriöt Anorexia nervosa ja Bulimia nervosa. Katsauksessa käsitellään myös kuluneen purennan kuntouttamista asiantuntijahoidon avulla.

Food and the circadian activity of the hypothalamic-pituitary-adrenal axis

Temporal organization is an important feature of biological systems and its main function is to facilitate adaptation of the organism to the environment. The daily variation of biological variables arises from an internal time-keeping system. The major action of the environment is to synchronize the internal clock to a period of exactly 24 h. The light-dark cycle, food ingestion, barometric pressure, acoustic stimuli, scents and social cues have been mentioned as synchronizers or" zeitgebers". The circadian rhythmicity of plasma corticosteroids has been well characterized in man and in rats and evidence has been accumulated showing daily rhythmicity at every level of the hypothalamic-pituitary-adrenal (HPA) axis. Studies of restricted feeding in rats are of considerable importance because they reveal feeding as a major synchronizer of rhythms in HPA axis activity. The daily variation of the HPA axis stress response appears to be closely related to food intake as well as to basal activity. In humans, the association of feeding and HPA axis activity has been studied under physiological and pathological conditions such as anorexia nervosa, bulimia, malnutrition, obesity, diabetes mellitus and Cushing's syndrome. Complex neuroanatomical pathways and neurochemical circuitry are involved in feeding-associated HPA axis modulation. In the present review we focus on the interaction among HPA axis rhythmicity, food ingestion, and different nutritional and endocrine states

The validity and 4-year test-retest reliability of the Brazilian version of the Eating Attitudes Test-26

In a cross-sectional study conducted four years ago to assess the validity of the Brazilian version of the Eating Attitudes Test-26 (EAT-26) for the identification of abnormal eating behaviors in a population of young females in Southern Brazil, 56 women presented abnormal eating behavior as indicated by the EAT-26 and the Edinburgh Bulimic Investigation Test. They were each matched for age and neighborhood to two normal controls (N = 112) and were re-assessed four years later with the two screening questionnaires plus the Composite International Diagnostic Interview (CIDI). The EAT results were then compared to diagnoses originating from the CIDI. To evaluate the temporal stability of the two screening questionnaires, a test-retest design was applied to estimate kappa coefficients for individual items. Given the prevalence of eating disorders of 6.2%, the CIDI psychiatry interview was applied to 161 women. Of these, 0.6% exhibited anorexia nervosa and 5.6%, bulimia nervosa (10 positive cases). The validity coefficients of the EAT were: 40% sensitivity, 84% specificity, and 14% positive predictive value. Cronbach's coefficient was 0.75. For each EAT item, the kappa index was not higher than 0.344 and the correlation coefficient was lower than 0.488. We conclude that the EAT-26 exhibited low validity coefficients for sensitivity and positive predictive value, and showed a poor temporal stability. It is reasonable to assume that these results were not influenced by the low prevalence of eating disorders in the community. Thus, the results cast doubts on the ability of the EAT-26 test to identify cases of abnormal eating behaviors in this population.

Hampaiston kuluminen

Tutkielma käsittelee hampaiden kulumista potilastapauksen avulla. Kyseessä on kirjallisuuskatsaus hampaiston eri kulumistyypeistä: eroosiosta, attritiosta, abraasiosta ja abfraktiosta, sekä myös niiden hoidosta ja ehkäisystä. Tutkielmassa käsitellään lisäksi hampaiston kulumisen etiologisia tekijöitä, joihin kuuluvat muun muassa syömishäiriöt Anorexia nervosa ja Bulimia nervosa. Katsauksessa käsitellään myös kuluneen purennan kuntouttamista asiantuntijahoidon avulla.