Over 20 severely obese subjects in 11 independent kindreds have been reported to have pathogenic heterozygous mutations in the gene encoding the melanocortin 4 receptor (MC4R), making this the most common known monogenic cause of human obesity. To date, the detailed clinical phenotype of this dominantly inherited disorder has not been defined, and no homozygous subjects have been described. We determined the nucleotide sequence of the entire coding region of the MC4R gene in 243 subjects with severe, early-onset obesity. A novel two-base pair GT insertion in codon 279 was found in two unrelated subjects, and four novel missense mutations, N62S, R165Q, V253I, C271Y, and one mutation (T112M) reported previously were found in five subjects. N62S was found in homozygous form in five children with severe obesity from a consanguineous pedigree. All four heterozygous carriers were nonobese. Several features of the phenotype, e.g. hyperphagia, tendency toward tall stature, hyperinsulinemia, and preserved reproductive function, closely resemble those reported previously in Mc4r knock-out mice. In addition, a marked increase in bone mineral density was seen in all affected subjects. In transient transfection assays, the N62S mutant receptor showed a responsiveness to alphaMSH that was intermediate between the wild-type receptor and mutant receptors carrying nonsense and missense mutations associated with dominantly inherited obesity. Thus MC4R mutations result in a syndrome of hyperphagic obesity in humans that can present with either dominant or recessive patterns of inheritance.

/pdf/dominant-and-recessive-inheritance-of-morbid-obesity-1zvfvc2ko2.pdf

Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency

OBJECTIVES: To examine relationships between diet and grip strength in older men and women and to determine whether prenatal growth modifies these relationships. DESIGN: Cross-sectional and retrospective cohort study. SETTING: Hertfordshire, United Kingdom. PARTICIPANTS: Two thousand nine hundred eighty-three men and women aged 59 to 73 who were born and still living in Hertfordshire, United Kingdom. MEASUREMENTS: Weight at birth recorded in Health Visitor ledgers; current food and nutrient intake assessed using an administered food frequency questionnaire; and grip strength measured using a handheld dynamometer. RESULTS: Grip strength was positively associated with height and weight at birth and inversely related to age (all P<.001). Of the dietary factors considered in relation to grip strength, the most important was fatty fish consumption. An increase in grip strength of 0.43 kg (95% confidence interval (CI)=0.13-0.74) in men (P=.005) and 0.48 kg (95% CI=0.24-0.72) in women (P<.001) was observed for each additional portion of fatty fish consumed per week. These relationships were independent of adult height, age, and birth weight, each of which had additive effects on grip strength. There was no evidence of interactive effects of weight at birth and adult diet on grip strength. CONCLUSION: These data suggest that fatty fish consumption can have an important influence on muscle function in older men and women. This raises the possibility that the antiinflammatory actions of omega-3 fatty acids may play a role in the prevention of sarcopenia.

/pdf/diet-and-its-relationship-with-grip-strength-in-community-10xn3isz20.pdf

Diet and its relationship with grip strength in community-dwelling older men and women: the Hertfordshire Cohort Study

Background: Food Frequency Questionnaires (FFQs) are commonly used in epidemiologic studies to assess long-term nutritional exposure. Because of wide variations in dietary habits in different countries, a FFQ must be developed to suit the specific population. Sri Lanka is undergoing nutritional transition and diet-related chronic diseases are emerging as an important health problem. Currently, no FFQ has been developed for Sri Lankan adults. In this study, we developed a FFQ to assess the regular dietary intake of Sri Lankan adults. Methods: A nationally representative sample of 600 adults was selected by a multi-stage random cluster sampling technique and dietary intake was assessed by random 24-h dietary recall. Nutrient analysis of the FFQ required the selection of foods, development of recipes and application of these to cooked foods to develop a nutrient database. We constructed a comprehensive food list with the units of measurement. A stepwise regression method was used to identify foods contributing to a cumulative 90% of variance to total energy and macronutrients. In addition, a series of photographs were included. Results: We obtained dietary data from 482 participants and 312 different food items were recorded. Nutritionists grouped similar food items which resulted in a total of 178 items. After performing step-wise multiple regression, 93 foods explained 90% of the variance for total energy intake, carbohydrates, protein, total fat and dietary fibre. Finally, 90 food items and 12 photographs were selected. Conclusion: We developed a FFQ and the related nutrient composition database for Sri Lankan adults. Culturally specific dietary tools are central to capturing the role of diet in risk for chronic disease in Sri Lanka. The next step will involve the verification of FFQ reproducibility and validity.

/pdf/development-of-a-food-frequency-questionnaire-for-sri-lankan-1ljgfgif86.pdf

Development of a food frequency questionnaire for Sri Lankan adults.

Objective: To assess diet quality of pregnant women in the WIC program in North Dakota and to compare Native Americans with whites, we used a DQI-P (diet quality index for pregnancy) among low-income pregnant women enrolled in WIC, a special supplemental program for women, infants, and children. Methods: Dietary information was collected for all participants using the Harvard Service Food Frequency Questionnaire (HSFFQ). DQI-P scores were based on 10 components previously used in other diet quality indices: percent recommended intake of grains, vegetables, fruits, folate, calcium, and iron; total fat, saturated fat, and cholesterol; and dietary diversity. Each component contributed 10 points to the total possible DQI-P score of 100. Results: The mean DQI-P score was 53.9. Native Americans (51.8) had significantly lower DQI-P scores (51.8 vs. 54.2; p<0.0001); significantly higher scores for iron and folate; and significantly lower scores for cholesterol, total fat intake, and saturated fat components than did whites. As DQI-P scores increased, diet improved and scores for individual components increased. Conclusion: While there were significant differences between the diet quality of Native American and white pregnant women, the differences were minimal. The DQI-P scores for all women in this population indicate that their diets are not meeting dietary recommendations. Interventions should focus on decreasing fat intake and increasing iron and folate intake to meet national dietary recommendations. More emphasis should be placed on eating whole fruit and vegetables.

Assessing diet quality in a population of low-income pregnant women: a comparison between Native Americans and whites.

Most cardiovascular disease (CVD) occurs in the presence of traditional risk factors, including hypertension and dyslipidemia, and these in turn are influenced by behavioural factors such as diet and lifestyle. Previous research has identified a group at low risk of CVD based on a cluster of inter-related factors: body mass index (BMI) < 25 Kg/m2, moderate exercise, alcohol intake, non-smoking and a favourable dietary pattern. The objective of this study was to determine whether these factors are associated with a reduced prevalence of hypertension and dyslipidemia in an Irish adult population. The study was a cross-sectional survey of 1018 men and women sampled from 17 general practices. Participants completed health, lifestyle and food frequency questionnaires and provided fasting blood samples for analysis of glucose and insulin. We defined a low risk group based on the following protective factors: BMI <25 kg/m2; waist-hip ratio (WHR) <0.85 for women and <0.90 for men; never smoking status; participants with medium to high levels of physical activity; light alcohol consumption (3.5–7 units of alcohol/week) and a "prudent" diet. Dietary patterns were assessed by cluster analysis. We found strong significant inverse associations between the number of protective factors and systolic blood pressure, diastolic blood pressure and dyslipidemia. The prevalence odds ratio of hypertension in persons with 1, 2, 3, ≥ 4 protective factors relative to those with none, were 1.0, 0.76, 0.68 and 0.34 (trend p < 0.01). The prevalence odds ratio of dyslipidemia in persons with 1, 2, 3, ≥ 4 protective factors relative to those with none were 0.83, 0.98, 0.49 and 0.24 (trend p = 0.001). Our findings of a strong inverse association between low risk behaviours and two of the traditional risk factors for CVD highlight the importance of 'the causes of the causes' and the potential for behaviour modification in CVD prevention at a population level.

/pdf/the-cumulative-effect-of-core-lifestyle-behaviours-on-the-q4a982l20u.pdf

The cumulative effect of core lifestyle behaviours on the prevalence of hypertension and dyslipidemia

McCance and Widdowson's The Composition of Foods 5th Edition

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McCance and Widdowson's The Composition of Foods 5th Edition