A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report.

BACKGROUND: Multiple acyl-CoA dehydrogenase deficiency (MADD) or glutaric aciduria type II is an extremely rare autosomal recessive inborn error of fatty acid beta oxidation and branched-chain amino acids, secondary to mutations in the genes encoding the electron transfer flavoproteins A and B (ETFs; ETFA or ETFB) or ETF dehydrogenase (ETFDH). The clinical manifestation of MADD are heterogeneous, from severe neonatal forms to mild late-onset forms. CASE PRESENTATION: We report the case of a preterm newborn who died a few days after birth for a severe picture of untreatable metabolic acidosis. The diagnosis of neonatal onset MADD was suggested on the basis of clinical features displaying congenital abnormalities and confirmed by the results of expanded newborn screening, which arrived the day the newborn died. Molecular genetic test revealed a homozygous indel variant c.606 + 1 _606 + 2insT in the ETFDH gene, localized in a canonical splite site. This variant, segregated from the two heterozygous parents, is not present in the general population frequency database and has never been reported in the literature. DISCUSSION AND CONCLUSION: Recently introduced Expanded Newborn Screening is very important for a timely diagnosis of Inherited Metabolic Disorders like MADD. In some cases which are the most severe, diagnosis may arrive after symptoms are already present or may be the neonate already died. This stress the importance of collecting all possible samples to give parents a proper diagnosis and a genetic counselling for future pregnacies.

Can the influence of childhood socioeconomic status on men's and women's adult body mass be explained by adult socioeconomic status or personality? Findings from a national sample.

OBJECTIVES: On the basis of a life-course risk-chain framework, the authors examined whether (a) residual associations between childhood socioeconomic status (SES) and adult obesity and body mass index (BMI) would be observed in women but not men after adjusting for adult SES, (b) adult Big Five personality traits would be associated with adult body mass in both genders, and (c) personality would explain unique variation in outcomes beyond child and adult SES. DESIGN: National survey (Midlife Development in the United States study; N = 2,922). MAIN OUTCOME MEASURES: BMI and obesity. RESULTS: (a) In both genders, association between childhood SES and adult obesity were accounted for entirely by adult SES, but its effect on adult BMI was observed only in women; (b) higher conscientiousness was associated with lower obesity prevalence and BMI in both genders, although more strongly in women, and in men, greater obesity prevalence was associated with higher agreeableness and neuroticism; and (c) personality explained unique outcome variation in both genders. CONCLUSIONS: Early social disadvantage may affect adult weight status more strongly in women owing to gender differences in the timing and nature of weight-management socialization. Personality may enhance or detract from risks incurred by childhood or adulthood SES in either gender, necessitating the consideration of dispositional differences in prevention and intervention programs.

The Power of Food Scale. A new measure of the psychological influence of the food environment.

This paper describes the psychometric evaluation of a new measure called the Power of Food Scale (PFS). The PFS assesses the psychological impact of living in food-abundant environments. It measures appetite for, rather than consumption of, palatable foods, at three levels of food proximity (food available, food present, and food tasted). Participants were 466 healthy college students. A confirmatory factor analysis replicated the three-factor solution found previously by Capelleri et al. [Capelleri, J. C., Bushmakin, A. G., Gerber, R. A., Leidy, N. K., Sexton, C., Karlsson, J., et al. (in press). Discovering the structure of the Power of Food Scale (PFS) in obese patients. International Journal of Obesity, 11, A165]. The PFS was found to have adequate internal consistency and test-retest reliability. The PFS and the Restraint Scale were regressed on four self-report measures of overeating. The PFS was independently related to all four whereas the Restraint Scale was independently related to two. Expert ratings of items suggested that the items are an acceptable reflection of the construct that the PFS is designed to capture. The PFS may be useful as a measure of the hedonic impact of food environments replete with highly palatable foods.

Personality and Perceived Health in Spousal Caregivers of Patients with Lung Cancer: The Roles of Neuroticism and Extraversion.

Purpose. Family members' responsibilities for patients with cancer have increased dramatically over the past decade and will likely continue to rise. Given that caregiving is associated with declines in self-care, there is a need for research on caregivers' perceptions of their own health. The purpose of this study was to examine whether personality is associated with four self-report perceived health items from the SF-36. Methods. The sample consisted of 114 spouses of lung cancer patients who completed cross-sectional measures as part of a larger cohort study on adjustment to the diagnosis and treatment of lung cancer. Predictors of interest were Neuroticism and Extraversion scores from the NEO-FFI. Covariates were age, gender, conscientiousness, depressive symptoms, and objective illness burden. Results. Multivariate analyses revealed that caregivers with higher Extraversion scores were less likely to respond affirmatively to the item "I expect my health to get worse" (OR = 0.90, p < 0.05). Neuroticism was associated with poorer perceived health (ORs from 1.11 to 1.12, p's < 0.05). Conclusions. The present cross-sectional findings suggest that personality is associated with responses to SF-36 perceived health items beyond what can be accounted for by objective illness burden and other covariates. The potential overestimation of health among extraverted caregivers may have implications for their health outcomes.

Meal replacements, reduced energy density eating, and weight loss maintenance in primary care patients: a randomized controlled trial.

OBJECTIVE: To compare the presence or absence of meal replacements (MRs) and an energy density (ED) intervention to facilitate weight loss maintenance. DESIGN AND METHODS: A total of 238 overweight primary care patients (mean body mass index = 39.5 kg/m(2) ) began the study; 132 completed the 12-week weight loss phase. Participants were randomly assigned to one of four maintenance conditions formed by crossing the presence or absence of MRs (MR+/MR-) and of the ED program (ED+/ED-) during a subsequent 9-month maintenance phase. Follow-up assessments occurred 1 and 2 years after treatment termination. RESULTS: Participants initially lost 6.1 kg. Analyses of variance based on weight change from the beginning of the maintenance phase to the 2-year follow-up produced a significant interaction. All groups except ED+/MR- regained substantial weight during follow-up; the ED+/MR- group regained significantly less weight than the control group at both follow-up assessments. No significant effects of treatment were found for several variables that were expected to mediate these outcomes. CONCLUSIONS: Because weight losses achieved in lifestyle change programs for obesity are rarely maintained, the superior outcome achieved by the ED+/MR- condition is notable. Nonetheless, methodological issues and inability to identify a potential mediator of this outcome make replication of this finding essential.

An intervention study targeting energy and nutrient intake in worksite cafeterias.

Modifying the food environment is a promising strategy for promoting healthier eating behavior. This study aimed to evaluate nutritional and weight changes in a program that used worksite cafeterias to reduce employees' calorie content of purchased foods and improve their macronutrient intake. Participants were randomly assigned to one of two conditions: 1) only environmental change (i.e., the introduction of 10 new low-energy-density (ED) foods and provision of labels for all foods sold at lunch, which listed ED, calories, and macronutrient content) or 2) the environmental change plus pricing incentives for purchasing low-ED foods and education about low-ED eating delivered in four, 1-hour group sessions. Participant lunch choices were monitored electronically at the point of purchase for 3 months before the intervention was instituted (i.e., the baseline period) and for 3 months afterward (i.e., intervention period). Participants were adults (n=96, BMI=29.7+/-6.0 kg/m(2)) who regularly ate lunch at their workplace cafeteria. There was no difference between groups in total energy intake over the study period. Across groups, energy and percent of energy from fat decreased and percent of energy from carbohydrate increased from baseline to the intervention period (all p<.01). Follow-up analyses, conducted by averaging Baseline Months 1 and 2 and comparing them to Intervention Month 3 as a conservative estimate of overall impact of the intervention, indicated that change in energy, carbohydrate, and fat intake remained significant (p<.001). Providing nutrition labels and reducing the ED of selected foods was associated with improved dietary intake.

Neural correlates of individual differences related to appetite.

Using neuroimaging technologies to compare normal weight and obese individuals can reveal much about the pathophysiological state of obesity but such comparisons tell us little about what makes some normal weight individuals susceptible to obesity or about important individual differences amongst obese individuals. The current review therefore reviews neuroimaging research on individual difference measures that can illuminate these important topics. After introducing three neuropsychological models of the nature of motivation to approach rewarding stimuli, neuroimaging research on measures of impulsivity, craving, binge eating, restrained eating and disinhibited eating is reviewed. Although neuroimaging research on individual differences measures of brain activity related to appetite is in its infancy, existing studies suggest that such research could enrich the understanding, prevention and treatment of disordered eating and obesity.

Treating depression: psychiatric consultation in cardiology.

Depression is the most common psychiatric disorder in coronary artery disease, and it can worsen cardiac outcomes. Also, cardiac disease predisposes patients to the development of depression. Assessment of depression is an important part of ongoing patient contacts. It can be easily done through the regular use of a self-report screening tool and the clinical interview. Treatment can consist of antidepressant use, psychotherapy and mindfulness-based group therapy. The antidepressants known as the selective serotonin reuptake inhibitors can generally be used safely in cardiac patients. They are a mainstay in the treatment of moderate to severe depression. Individual cognitive-behavioral therapy can treat milder forms of depression and can augment antidepressant use in more severe cases. Mindfulness-based group therapy can provide patients with additional means of handling distress while offering social contact and support, both of which are important in the treatment of depression. The use of consulting psychiatric services offers the cardiologist a collaborative team approach when treating patients with depressive illnesses.

Brain activation in restrained and unrestrained eaters: an fMRI study.

Restraint theory has been used to model the process that produces binge eating. However, there is no satisfactory explanation for the tendency of restrained eaters (REs) to engage in counterregulatory eating, an ostensible analogue of binge eating. Using functional magnetic resonance imaging (fMRI), the authors investigated brain activation of normal weight REs (N = 9) and unrestrained eaters (UREs; N = 10) when fasted and fed and viewing pictures of highly and moderately palatable foods and neutral objects. When fasted and viewing highly palatable foods, UREs showed widespread bilateral activation in areas associated with hunger and motivation, whereas REs showed activation only in the cerebellum, an area previously implicated in low-level processing of appetitive stimuli. When fed and viewing high palatability foods, UREs showed activation in areas related to satiation and memory, whereas REs showed activation in areas implicated in desire, expectation of reward, and goal-defined behavior. These findings parallel those from behavioral research. The authors propose that the counterintuitive findings from preload studies and the present study are due to the fact that REs are less hungry than UREs when fasted and find palatable food more appealing than UREs when fed.

The effect of training in reduced energy density eating and food self-monitoring accuracy on weight loss maintenance.

BACKGROUND: Failure to maintain weight losses in lifestyle change programs continues to be a major problem and warrants investigation of innovative approaches to weight control. OBJECTIVE: The goal of this study was to compare two novel group interventions, both aimed at improving weight loss maintenance, with a control group. METHODS AND PROCEDURES: A total of 103 women lost weight on a meal replacement-supplemented diet and were then randomized to one of three conditions for the 14-week maintenance phase: cognitive-behavioral treatment (CBT); CBT with an enhanced food monitoring accuracy (EFMA) program; or these two interventions plus a reduced energy density eating (REDE) program. Assessments were conducted periodically through an 18-month postintervention. Outcome measures included weight and self-reported dietary intake. Data were analyzed using completers only as well as baseline-carried-forward imputation. RESULTS: Participants lost an average of 7.6 +/- 2.6 kg during the weight loss phase and 1.8 +/- 2.3 kg during the maintenance phase. Results do not suggest that the EFMA intervention was successful in improving food monitoring accuracy. The REDE group decreased the energy density (ED) of their diets more so than the other two groups. However, neither the REDE nor the EFMA condition showed any advantage in weight loss maintenance. All groups regained weight between 6- and 18-month follow-ups. DISCUSSION: Although no incremental weight maintenance benefit was observed in the EFMA or EFMA + REDE groups, the improvement in the ED of the REDE group's diet, if shown to be sustainable in future studies, could have weight maintenance benefits.