We present the first known case of a patient with BRD2::NUTM1-driven NUT carcinoma. A 59-year-old woman presented with poorly differentiated squamous cell lung cancer metastatic to the pleura. ...Eventually, a positive NUT immunohistochemistry, NUT fluorescence in situ hybridization, and RNA next-generation sequencing with a BRD2::NUTM1 fusion led to the diagnosis of NUT carcinoma. She received multiple lines of chemotherapy with response and is still alive at 2 years postdiagnosis. This report expands on the known fusions in NUT carcinoma and highlights potential differences in patient prognosis on the basis of gene fusion partners.
Depression screening in the cardiovascular disease (CVD) care setting is under-performed, also because the issue of the optimal screening tools cut-off is still open. We analysed which HADS (Hospital ...Anxiety and Depression Scale) total score cut-off value shows the best properties in two groups of 357 Acute Coronary Syndrome (ACS) and 260 Chronic Coronary Artery Disease (CAD) hospitalized patients.
A Receiver Operating Characteristics (ROC) curve was plotted for both groups using the Montgomery-Asberg Depression Rating Scale (MADRS) as the criterion. Accuracy, positive (PPV) and negative (NPV) predictive values were computed for different cut-off scores.
The ROC curves confirmed the excellent/very good accuracy of the HADS in both groups, with an area under the curve of 0.911 for the ACS and 0.893 for the CAD patients. The cut-off of 14 showed the best compromise between high sensitivity and good specificity in both groups, with high negative predicted values (95.5% and 92.4%, respectively).
Using a cut-off value of 14, the HADS could be considered a good screening tool to identify hospitalized CAD and ACS patients requiring a more accurate depression assessment, in order to promptly plan the most appropriate treatment strategies and prevent the negative effects of depression in CVD patients.
Fibromyalgia (FM) is a chronic syndrome characterised by widespread musculoskeletal pain associated with other symptoms like fatigue, stiffness, non-restorative sleep and psychological distress that ...strongly affects the quality of life in FM patients. While the psychological distress has been widely explored in FM, only a few studies investigated alexithymia, an emotional dysregulation trait.
Evaluate the prevalence of alexithymia and psychological distress and their impact on patients quality of life.
A battery of tests assessing alexithymia, depression, anxiety, emotional distress symptoms and the health related quality of life (HRQoL) was filled out by 55 female FM patients. After having analysed their prevalence, two regression analyses were performed in order to evaluate the role that alexithymia, depression, anxiety, emotional distress and pain characteristics have on quality of life of FM patients.
Results showed that a clinically relevant level of psychological distress was present in more than half of our sample, whereas alexithymic traits were present in 20% of the patients. Regression analyses showed that pain intensity, depression and current pain were the variables that best contribute to explain the physical component of the HRQoL while anxiety, depression and pain intensity were the variables that mainly contributed to explain the mental component of quality of life.
These results underline the high prevalence of alexithymia in FM patients and the great impact of psychological symptoms on FM patients HRQoL. Wholistic care of FM patients which addresses both physical and psychological symptoms is needed.
We present the first known case of a patient with BRD2::NUTM1-driven NUT carcinoma. A 59-year-old woman presented with poorly differentiated squamous cell lung cancer metastatic to the pleura. ...Eventually, a positive NUT immunohistochemistry, NUT fluorescence in situ hybridization, and RNA next-generation sequencing with a BRD2::NUTM1 fusion led to the diagnosis of NUT carcinoma. She received multiple lines of chemotherapy with response and is still alive at 2 years postdiagnosis. This report expands on the known fusions in NUT carcinoma and highlights potential differences in patient prognosis on the basis of gene fusion partners.
Mechanisms underlying the opposite effects of transmembrane 6 superfamily member 2 (TM6SF2) rs58542926 C>T polymorphism on liver injury and cardiometabolic risk in nonalcoholic fatty liver disease ...(NAFLD) are unclear. We assessed the impact of this polymorphism on postprandial lipoprotein metabolism, glucose homeostasis, and nutrient oxidation in NAFLD. Sixty nonobese nondiabetic normolipidemic biopsy-proven NAFLD patients and 60 matched controls genotyped for TM6SF2 C>T polymorphism underwent: indirect calorimetry; an oral fat tolerance test with measurement of plasma lipoprotein subfractions, adipokines, and incretin glucose-dependent insulinotropic polypeptide (GIP); and an oral glucose tolerance test with minimal model analysis of glucose homeostasis. The TM6SF2 T-allele was associated with higher hepatic and adipose insulin resistance, impaired pancreatic β-cell function and incretin effect, and higher muscle insulin sensitivity and whole-body fat oxidation rate. Compared with the TM6SF2 C-allele, the T-allele entailed lower postprandial lipemia and nefaemia, a less atherogenic lipoprotein profile, and a postprandial cholesterol (Chol) redistribution from smaller atherogenic lipoprotein subfractions to larger intestinal and hepatic VLDL1 subfractions. Postprandial plasma VLDL1-Chol response independently predicted the severity of liver histology. In conclusion, the TM6SF2 C>T polymorphism affects nutrient oxidation, glucose homeostasis, and postprandial lipoprotein, adipokine, and GIP responses to fat ingestion independently of fasting values. These differences may contribute to the dual and opposite effect of this polymorphism on liver injury and cardiometabolic risk in NAFLD.
The Third Generation Partnership Project (3GPP) has recently published a new set of specifications to enable advanced driving applications in fifth generation (5G) vehicle-to-everything (V2X) ...scenarios, with particular effort dedicated to the sidelink resource allocation in the autonomous mode, named Mode 2. In this paper, we conduct a comprehensive analysis of Mode 2 performance via an open-source system-level simulator, which implements the 5G New Radio (NR) flexible numerology and physical layer aspects together with the newly specified sidelink resource allocation modes for V2X communications and different data traffic patterns. Results collected through extensive simulation campaigns, under a wide variety of vehicle density, data transmission settings and traffic patterns, showcase the effects of the new 5G-V2X features on the sidelink resource allocation performance and provide some insights into possible ways to further improve Mode 2 performance.
Mitotic count on hematoxylin and eosin slides is a fundamental morphological criterion in the diagnosis and grading of adrenocortical carcinoma in any scoring system employed. Moreover, it is the ...unique term strongly associated with patient's prognosis. Phospho-histone H3 is a mitosis-specific antibody, which was already proven to facilitate mitotic count in melanoma and other tumors. Therefore, a study was designed to assess the diagnostic and prognostic role of phospho-histone H3 in 52 adrenocortical carcinomas, comparing manual and computerized count to standard manual hematoxylin- and eosin-based method and Ki-67 index. Manual hematoxylin and eosin and phospho-histone H3 mitotic counts were highly correlated (r=0.9077, P<0.0001), better than computer-assisted phospho-histone H3 evaluations, and had an excellent inter-observer reproducibility at Bland-Altman analysis. Three of 15 cases having <5 mitotic figures per 50 high-power fields by standard count on hematoxylin and eosin gained the mitotic figure point of Weiss Score after a manual count on phospho-histone H3 slides. Traditional mitotic count confirmed to be a strong predictor of overall survival (P=0.0043), better than phospho-histone H3-based evaluation (P=0.051), but not as strong as the Ki-67 index (P<0.0001). The latter further segregated adrenocortical carcinomas into three prognostic groups, stratifying cases by low (<20%), intermediate (20–50%), and high (>50%) Ki-67 values. We conclude that (a) phospho-histone H3 staining is a useful diagnostic complementary tool to standard hematoxylin and eosin mitotic count, enabling optimal mitotic figure evaluation (including atypical mitotic figures) even in adrenocortical carcinomas with a low mitotic index and with a very high reproducibility; (b) Ki-67 proved to be the best prognostic indicator of overall survival, being superior to the mitotic index, irrespective of the method (standard on hematoxylin and eosin or phospho-histone H3-based) used to count mitotic figures.
Low back pain (LBP) carries a high risk of chronicization and disability, greatly impacting the overall demand for care and costs, and its treatment is at risk of scarce adherence. This work ...introduces a new scenario based on the use of a mobile health tool, the Dress-KINESIS, to support the traditional rehabilitation approach. The tool proposes targeted self-manageable exercise plans for improving pain and disability, but it also monitors their efficacy. Since LBP prevention is the key strategy, the tool also collects real-patient syndromic information, shares valid educational messages and fosters self-determined motivation to exercise. Our analysis is based on a comparison of the performance of the traditional rehabilitation process for non-specific LBP patients and some different scenarios, designed by including the Dress-KINESIS’s support in the original process. The results of the simulations show that the integrated approach leads to a better capacity for taking on patients while maintaining the same physiotherapists’ effort and costs, and it decreases healthcare costs during the two years following LBP onset. These findings suggest that the healthcare system should shift the paradigm towards citizens’ participation and the digital support, with the aim of improving its efficiency and citizens’ quality of life.
The COVID‐19 pandemic has induced significant impairments, including sleep disturbances. The present study aimed to explore the impact of fear in relation to stress on sleep disorders among Italian ...adults and older participants in the second phase of the EPICOVID19 web‐based survey (January‐February 2021). Sleep disturbances during the pandemic were evaluated using the Jenkins Sleep Scale, perceived stress through the 10‐item Perceived Stress Scale and fear of contagion and about economic and job situation with four ad hoc items. The strength of the pathways between stress, sleep disturbances and fear was explored using structural equation modelling, hypothesising that stress was related to sleep disturbances and that fear was associated with both stress and sleep problems. Out of 41,473 participants (74.7% women; mean age 49.7 ± 13.1 years), 8.1% reported sleep disturbances and were more frequently women, employed in a work category at risk of infection or unemployed, and showed higher deprivation scores. Considering an a priori hypotheses model defining sleep and stress scores as endogenous variables and fear as an exogenous variable, we found that fear was associated with sleep problems and stress, and stress was associated with sleep problems; almost half of the total impact of fear on sleep quality was mediated by stress. The impact of stress on sleep quality was more evident in the younger age group, among individuals with a lower socioeconomic status and healthcare workers. Fear related to COVID‐19 seem to be associated with sleep disturbances directly and indirectly through stress.