Identification of NID1 as a novel candidate susceptibility gene for familial non-medullary thyroid carcinoma using whole-exome sequencing.

The genetics underlying non-syndromic familial non-medullary thyroid carcinoma (FNMTC) is still poorly understood. To identify susceptibility genes for FNMTC, we performed whole-exome sequencing (WES) in a Brazilian family affected by papillary thyroid carcinoma (PTC) in three consecutive generations. WES was performed in four affected and two unaffected family members. Manual inspection in over 100 previously reported susceptibility genes for FNMTC showed that no variants in known genes co-segregated with disease phenotype in this family. Novel candidate genes were investigated using PhenoDB and filtered using Genome Aggregation (gnomAD) and Online Archive of Brazilian Mutations (ABraOM) population databases. The missense variant p.Ile657Met in the NID1 gene was the only variant that co-segregated with the disease, while absent in unaffected family members and controls. The allele frequency for this variant was <0.0001 in the gnomAD and ABbraOM databases. In silico analysis predicted the variant to be deleterious or likely damaging to the protein function. Somatic mutations in NID1 gene were found in nearly 500 cases of different cancer subtypes in the intOGen platform. Immunohistochemistry analysis showed NID1 expression in PTC cells, while it was absent in normal thyroid tissue. Our findings were corroborated using data from the TCGA cohort. Moreover, higher expression of NID1 was associated with higher likelihood of relapse after treatment and N1b disease in PTCs from the TCGA cohort. Although replication studies are needed to better understand the role of this variant in the FNMTC susceptibility, the NID1 variant (c.1971T>G) identified in this study fulfills several criteria that suggest it as a new FNMTC predisposing gene.

Amateur ballet practicing, body image and eating behaviors: a comparative study of classical ballet dancers, gym users and sedentary women.

BACKGROUND: Ballet dancers are a risk group for body image (BI) distortion, dissatisfaction and eating disorders (ED), but few studies have investigated these aspects in amateur adult practitioners. This study aimed to evaluate if amateur female adult classical ballet dancers presented different BI and behaviors for ED than gym users and sedentary women. METHODS: This is a cross-sectional study where classical ballet dancers (n = 19) were compared to gym users (n = 19) and sedentary women (n = 19). Body mass index (BMI) was assessed, and a figure rating scale was applied to assess BI distortion/dissatisfaction. The body shape questionnaire (BSQ) was used to measure BI concern. The eating attitudes test (EAT-26) and the bulimic investigatory test, Edinburgh (BITE) were used for behaviors toward anorexia and bulimia. RESULTS: BMI was significantly lower in ballet dancers than gym users and sedentary women (F, p = .04). BI distortion did not differ among the studied groups. BI dissatisfaction was lower (X2, p = .041) in ballet dancers (75.0%) and gym users (70.6%) compared to sedentary women (100%). Correspondence analysis showed ballet dancers were mostly not concerned with BI, which was not observed among the other groups. The EAT-26 did not differ between the studied groups. The BITE score was lower (Tukey's post hoc test, p = .005) in the ballet dancers [mean 5.3 (5.6)] compared to the sedentary women [mean 10.9 (4.8)]. CONCLUSIONS: Data suggest that amateur classical ballet practicing is associated to better BI and fewer behaviors for ED in the studied population. The lower BMI in ballet dancers might explain these findings, and further studies should explore these associations.

Obesity and the increased risk for COVID-19: mechanisms and nutritional management.

The global COVID-19 (coronavirus disease 2019) pandemic has become a complex problem that overlaps with a growing public health problem, obesity. Obesity alters different components of the innate and adaptive immune responses, creating a chronic and low-grade state of inflammation. Nutritional status is closely related to a better or worse prognosis of viral infections. Excess weight has been recognised as a risk factor for COVID-19 complications. In addition to the direct risk, obesity triggers other diseases such as diabetes and hypertension, increasing the risk of severe COVID-19. The present review explains the diets that induce obesity and the importance of different foods in this process. We also review tissue disruption in obesity, leading to impaired immune responses and the possible mechanisms by which obesity and its co-morbidities increase COVID-19 morbidity and mortality. Nutritional strategies that support the immune system in patients with obesity and with COVID-19 are also discussed in light of the available data, considering the severity of the infection. The discussions held may contribute to combating this global emergency and planning specific public health policy.

Effect of A One-Week Balanced Diet on Expression of Genes Related to Zinc Metabolism and Inflammation in Type 2 Diabetic Patients.

To evaluate the effect of diet on metabolic control and zinc metabolism in patients with type 2 diabetes mellitus (T2DM). One-week balanced diet was provided to 10 Brazilians patients with T2DM. Nutritional assessment, laboratorial parameters and expression of zinc transporter and inflammatory genes in peripheral blood mononuclear cells (PBMC) were performed. Healthy non-diabetic subjects of the same demographic were recruited to provide baseline data. Diabetic patients had higher body mass index and greater fasting plasma glucose, plasma tumor necrosis factor α (TNFα) and plasma interleukin 6 (IL6) levels compared with healthy subjects. In addition, the expression of transporters 4 (ZnT4) mRNA was lower and IL6 mRNA was higher in PBMC of these diabetic patients than in healthy subject. One week after a balanced diet was provided, fasting plasma glucose decreased significantly as did TNFα, IL6 and Metallothionein 1 (MT1) mRNAs. No change was observed in zinc transporter expression in PBMC after the dietary intervention. A healthy eating pattern maintained for one week was able to improve metabolic control of diabetic patients by lowering fasting plasma glucose. This metabolic control may be related to down-regulation of zinc-related transcripts from PBMCs, as TNFα, IL6 and MT1 mRNA.

Influence of basal energy expenditure and body composition on bone mineral density in postmenopausal women.

BACKGROUND: The aim of this study was to investigate the influence of body mass index, body weight, lean mass, fat mass, and basal energy expenditure on bone mineral density in postmenopausal women. METHODS: This was a cross-sectional, descriptive study of a sample of 50 women, with minimum time since menopause between 1 and 10 years. Bone mineral density was assessed at the lumbar spine (L2-L4), femoral neck, Ward's triangle, and trochanter using dual-energy X-ray absorptiometry. Body mass index, lean mass, fat mass, and basal energy expenditure were measured by bioimpedance. RESULTS: The mean age of the women was 51.49 ± 3.86 years and time since menopause was 3.50 ± 2.59 years. Significant negative correlations were found between chronological age and lumbar spine, femoral neck, Ward's triangle, and trochanteric bone mineral density. In regard to time since menopause, we also observed significant negative correlations with bone mineral density at the lumbar spine and Ward's triangle. The following significant positive correlations were recorded: body mass index with bone mineral density at the femoral neck and trochanter; fat mass with bone mineral density at the femoral neck and trochanter; lean mass with bone mineral density at the lumbar spine, femoral neck, and trochanter; and basal energy expenditure with bone mineral density at all sites assessed. On the other hand, the multiple linear regression model showed that: 20.2% of bone mineral density variability at the lumbar spine is related to lean mass and time since menopause; 22.3% of bone mineral density variability at the femoral neck is related to body weight and age; 18.9% of bone mineral density variability at Ward's triangle is related to age and basal energy expenditure; and 39% of bone mineral density variability at the trochanter is related to body mass index, age, and menarche. CONCLUSION: Changes in bone mineral density, specific for each skeletal site, are influenced by age, time since menopause, body weight, body mass index, lean mass, and basal energy expenditure. Lean mass and basal energy expenditure positively influenced bone mineral density at the lumbar spine and Ward's triangle, with a predominance of trabecular bone.