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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).)

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.)

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.