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Abstract Background Obesity is a major problem especially in western countries and several studies underline the importance of physical activity to enhance diet. Currently there is increasing interest in instruments for monitoring daily physical activity. The purpose of this pilot study was to appraise the qualitative and quantitative differences in physical activities and gait analysis parameters in control and obese subjects by means of an innovative tool for the monitoring of physical activity. Methods Twenty-six obese patients, 16 women and 10 men, aged 22 to 69 years with Body Mass Index (BMI) between 30 and 51.4 kg/m2, were compared with 15 control subjects, 4 men and 11 women, aged 24 to 69 with BMI between 18 and 25 kg/m2 during daily physical activities. The IDEEA device (Minisun, Fresno, CA), based on a wearable system of biaxial accelerometers and able to continuously record the physical activities and energy expenditure of a subject in time was used. Time spent in different physical activities such as standing, sitting, walking, lying, reclining, stepping, energy expenditure and gait parameters (velocity, stance duration, etc) were measured during a 24-hours period. Results A trend toward a reduced number of steps was present, associated to reduced speed, reduced cadence and reduced rate of single and double limb support (SLS/DLS). Moreover, obese people spent significant less time stepping, less time lying and more time in a sitting or reclined position during the night. The energy expenditure during a 24-hours period was higher in the obese compared to controls. Conclusions The study provided objective parameters to differentiate the daily motor activity of obese subjects with respect to controls, even a larger population is required to confirm these findings. The device used can be of support in programming educational activities for life style modification in obese people as well as for monitoring the results of various kinds of intervention in these patients concerning weight and physical performance.

Background: Thymic epithelial tumors are rare malignant neoplasms that are frequently associated with paraneoplastic syndromes, especially myasthenia gravis. GTF2I is an oncogene mutated in a subgroup of thymomas that is reputed to drive their growth. However, for GTF2I wild-type tumors, the relevant mutations remain to be identified., Methods: We performed a meta-analysis and identified 4,208 mutations in 339 patients. We defined a panel of 63 genes frequently mutated in thymic epithelial tumors, which we used to design a custom assay for next-generation sequencing. We sequenced tumor DNA from 67 thymomas of patients with myasthenia gravis who underwent resection in our institution., Results: Among the 67 thymomas, there were 238 mutations, 83 of which were in coding sequences. There were 14 GTF2I mutations in 6 A, 5 AB, 2 B2 thymomas, and one in a thymoma with unspecified histology. No other oncogenes showed recurrent mutations, while sixteen tumor suppressor genes were predicted to be inactivated. Even with a dedicated assay for the identification of specific somatic mutations in thymic epithelial tumors, only GTF2I mutations were found to be significantly recurrent., Conclusion: Our evaluation provides insights into the mutational landscape of thymic epithelial tumors, identifies recurrent mutations in different histotypes, and describes the design and implementation of a custom panel for targeted resequencing. These findings contribute to a better understanding of the genetic basis of thymic epithelial tumors and may have implications for future research and treatment strategies., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Pardini, Cucchiara, Palumbo, Tarrini, Di Vita, Coppedè, Nicolì, Guida, Maestri, Ricciardi, Aprile, Ambrogi, Barachini, Lucchi and Petrini.)

Tγδ large granular lymphocyte leukemia (Tγδ LGLL) is a rare lymphoproliferative disease, scantily described in literature. A deep-analysis, in an initial cohort of 9 Tγδ LGLL compared to 23 healthy controls, shows that Tγδ LGLL dominant clonotypes are mainly public and exhibit different V-(D)-J γ/δ usage between patients with symptomatic and indolent Tγδ neoplasm. Moreover, some clonotypes share the same rearranged sequence. Data obtained in an enlarged cohort (n = 36) indicate the importance of a combined evaluation of immunophenotype and STAT mutational profile for the correct management of patients with Tγδ cell expansions. In fact, we observe an association between Vδ2/Vγ9 clonality and indolent course, while Vδ2/Vγ9 negativity correlates with symptomatic disease. Moreover, the 7 patients with STAT3 mutations have neutropenia and a CD56-/Vδ2- phenotype, and the 3 cases with STAT5B mutations display an asymptomatic clinical course and CD56/Vδ2 expression. All these data indicate that biological characterization is needed for Tγδ-cell neoplasm definition., (© 2022. The Author(s).)

Purpose: This study was aimed to examine the structural and construct validity of the Italian version of the Yale Food Addiction Scale in a multisite sample of postgraduate students., Methods: Two hundred and fifty-six subjects (78.1% females) aged from 18 to 53 years (mean = 23.93, SD = 4.96) and attending different postgraduate university programs at multiple Italian universities completed the Italian YFAS, the Italian Binge Eating Scale (BES), the Italian Eating Attitudes Test-26 and the Italian Dutch Eating Behavior Questionnaire (DEBQ) online through Qualtrics., Results: Confirmatory Factor Analysis showed that the single-factor model of the Italian YFAS including all original items had adequate fit indexes (χ 2 252 = 454.183; p < 0.001; normed χ 2  = 1.802; RMSEA = 0.056; 90% CI 0.048-0.076; CFI = 0.761; WRMR = 1.592). However, item analysis revealed that item#25 had zero variance (all subjects were assigned the same score after item dichotomization) and item#24 had a low factor loading, and were thus removed. Furthermore, item#10 and item#11 showed to be almost perfectly correlated (r = 0.998) and were thus parceled. The resulting 19-item single-factor model revealed a better fit to the data (χ 2 152 = 235.69; p < 0.001; normed χ 2  = 1.556; RMSEA = 0.046; 90% CI 0.034-0.058; CFI = 0.858; WRMR = 1.236) and its internal consistency was acceptable (KR-20 = 0.72). Also, a single-factor model including the seven diagnostic symptoms was tested and showed adequate fit values (χ 2 20 = 41.911; p < 0.003; normed χ 2  = 2.09; RMSEA = 0.065; 90% CI 0.037-0.093; CFI = 0.946; WRMR = 1.132). Statistically significant and small-to-high correlations were found with all convergent measures, in particular with the BES., Conclusion: The Italian 19-item YFAS resulted to be a valid and reliable tool for the assessment of food addiction in postgraduate students., Level of Evidence: Level V, descriptive study.

Background: Mutation of general transcription factor IIi (GTF2I) (chromosome 7 c.74146970T>A) is common in thymic epithelial tumors and is a candidate driver aberration for cancer growth. To our knowledge, this mutation has not been described in other diseases. We evaluated the presence of GTF2I mutation in hematological malignancies., Materials and Methods: We sequenced samples from 31 patients with acute leukemia, 29 with chronic leukemia and 12 with myelodysplastic syndrome. The genomic fragment of exon 15 containing the hotspot of mutation was amplified using polymerase chain reaction (PCR) and sequenced., Results: We did not identify any GTF2I mutation in patients with hematological malignancies., Conclusion: Even though our sample size was limited, our data and reports from the literature suggest that GTF2I mutation is not present or is uncommon in these diseases., (Copyright© 2017, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.)

We report a hypothesis-driven study aimed to detect genetic markers of susceptibility to differentiated thyroid carcinomas (DTC). A large number of candidate genes were first selected through literature search (genome-wide studies were also included). To restrict the analysis to single nucleotide polymorphisms (SNPs) with a high likelihood to be associated with increased risk, each SNP must comply with several a priori hypotheses. Only one SNP, the rs3764340 encoding for the aminoacidic substitution proline-to-alanine at codon 282 of the tumor suppressor gene WWOX, passed the selection. A case-control association study was carried out, involving a total of 1,741 cases and 1,042 controls. The logistic regression analysis revealed an increased risk of DTC for the carriers of the G-allele (crude odds ratio, OR = 1.53; 95% confidence interval, CI = 1.18-1.99; p = 1.38 × 10(-3) ). When we controlled for covariates, the adjusted OR was 1.48 with a 95% CI of 1.08-2.03 (p = 8.0 × 10(-3) ). The association was confirmed after stratification for histology (for papillary thyroid carcinoma the adjusted OR was 1.43; 95% CI 1.02-2.00; p = 0.037), incident cases and smokers, but was also at the limit of statistical significance in all the other categories considered. In silico analyses showed that when alanine substitutes proline, subtle changes of the proteic structure can be predicted. These findings together with other observations from literature on human cancers and the fact that the proline at codon 282 is extremely conserved in phylogenetically distant organisms (including Drosophila) suggest that the variant allele-282 could affect the biological function of WWOX, thereby predisposing individuals to thyroid cancer., (Copyright © 2011 UICC.)

The possibility that lifestyle changes may be shared by the family members of subjects with obesity attending cognitive-behavioral treatment (CBT) for weight loss has been scarcely evaluated. The purpose of this study was to measure the changes in body weight, lifestyle habits, and stage of change toward physical activity in the family members of 149 subjects with overweight/obesity enrolled into a weekly group CBT for weight management in the years 2007-2008. 230 adult (aged >18 years) family members (129 spouses, 72 children (43 female, 29 male), 29 with a different family relationship) completed a self-administered questionnaire at baseline and soon after the end of the completion of their relatives' program (approximately 6 months later). The questionnaire consisted of qualitative information regarding food choices, estimation of energy and food intake, self-report of height and weight, and motivation toward physical activity. At baseline, self-reported body mass index was normal in 115 cases, in the range 25 to 29.9 in 80 and ≥30 in 35. Following CBT of their relatives, the family members significantly reduced their average daily energy intake (-232 kcal/day; P<0.001) and the reported body weight decreased on average by 1 kg (P=0.001). The analysis of food choices revealed a reduced average daily amount of energy from dressings (-40 kcal, P<0.001), main courses with cheese or fat meat (-24 kcal, P=0.002), refined carbohydrates (-16 kcal, P<0.001), bread (-58 kcal, P<0.001), breakfast biscuits (-23 kcal, P=0.005), chocolate (-7 kcal, P=0.024), and nonalcoholic beverages (fruit juices and carbonated drinks; -10 kcal; P=0.013), whereas fruit consumption was increased (+10 kcal; P=0.023). There was also a shift in the stage of change toward exercising. Body mass index changes of family members and CBT subjects were significantly correlated, mainly within spouses. In conclusion, CBT for weight loss positively influences the lifestyle habits of family members of participants, reducing energy intake and promoting a more favorable attitude toward physical activity., (Copyright © 2011 American Dietetic Association. Published by Elsevier Inc. All rights reserved.)

Background: Obesity is a major problem especially in western countries and several studies underline the importance of physical activity to enhance diet. Currently there is increasing interest in instruments for monitoring daily physical activity. The purpose of this pilot study was to appraise the qualitative and quantitative differences in physical activities and gait analysis parameters in control and obese subjects by means of an innovative tool for the monitoring of physical activity., Methods: Twenty-six obese patients, 16 women and 10 men, aged 22 to 69 years with Body Mass Index (BMI) between 30 and 51.4 kg/m2, were compared with 15 control subjects, 4 men and 11 women, aged 24 to 69 with BMI between 18 and 25 kg/m2 during daily physical activities. The IDEEA device (Minisun, Fresno, CA), based on a wearable system of biaxial accelerometers and able to continuously record the physical activities and energy expenditure of a subject in time was used. Time spent in different physical activities such as standing, sitting, walking, lying, reclining, stepping, energy expenditure and gait parameters (velocity, stance duration, etc) were measured during a 24-hours period., Results: A trend toward a reduced number of steps was present, associated to reduced speed, reduced cadence and reduced rate of single and double limb support (SLS/DLS). Moreover, obese people spent significant less time stepping, less time lying and more time in a sitting or reclined position during the night. The energy expenditure during a 24-hours period was higher in the obese compared to controls., Conclusions: The study provided objective parameters to differentiate the daily motor activity of obese subjects with respect to controls, even a larger population is required to confirm these findings. The device used can be of support in programming educational activities for life style modification in obese people as well as for monitoring the results of various kinds of intervention in these patients concerning weight and physical performance.