Mendelian non-syndromic obesity.

Obesity is highly heritable and arises from the interplay of many genes and environmental factors. It can be defined as the result of prolonged imbalance between calorie intake and energy utilization. About 5% of cases of non-syndromic obesity are monogenic (Mendelian obesity). The amount of adipose tissue in the body is mainly regulated by leptin, a hormone produced by adipocytes, and Mendelian obesity is mainly caused by mutations that disrupt the leptin/melanocortin pathway. In this article, we summarize the genes involved in genetic obesity and the test we use for genetic analysis.

Effects of a Low FODMAP Diet and Specific Carbohydrate Diet on Symptoms and Nutritional Adequacy of Patients with Irritable Bowel Syndrome: Preliminary Results of a Single-blinded Randomized Trial.

BACKGROUND AND OBJECTIVES: IBS is the most common functional disease of the low gastrointestinal tract. Recently, the interest towards a diet approach has increased, for example, a diet with low content of fermentable oligosaccharides, disaccharides, monosaccharides and polyols (FODMAPs). The aim of the present study is to evaluate the efficacy of a low FODMAP diet and a specific carbohydrate diet (SCD) conducted for 3 months on symptoms and to evaluate the deficiencies of vitamin D and folic acid in patients affected by IBS, matching the Rome IV criteria. METHODS: We evaluated 73 patients divided into 2 groups: one submitted to low FODMAP diet and one to SCD, for 3 months. Patients were assigned to one of the 2 groups randomly and blinded. All the patients filled a visual analogue scale (VAS) to evaluate the severity of symptoms and a diary to evaluate the number of days with symptoms, and this was repeated after 3 months. Final evaluation was made by a blinded investigator. RESULTS: In the end, the patients with low FODMAP diet had a significant improvement in bloating and distension (P = 0.000); the group with SCD instead had a low but not a significant improvement. One way ANOVA showed comparable severity of symptoms in the 2 groups pre-diet (P = 0.215), but a difference in the same symptoms after 12 days (P = 0.000). Tukey test showed a significant improvement in the low FODMAP diet group and only a trend of improvement in the second group of SCD. The vitamin D mean value in both groups at the time of enrollment was 38 ng/mL; in the end, the mean value in the low FODMAP diet group was 32 ng/mL and in the SCD group was 22 ng/mL, with a statistically significant difference. The folic acid mean value at the time of enrollment was 18 mg/dL; in the end, the mean value in the low FODMAP diet group was 15 mg/dL and in the SCD group was 8 mg/dL, with a statistically significant difference. CONCLUSION: Patients affected by IBS seem to have benefitted from a low FODMAP diet but not from an SCD, and a low FODMAP diet doesn't seem to cause vitamin D and folic acid deficiencies.