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Colorectal cancer (CRC) is a prevalent and aggressive malignancy characterized by a complex tumor microenvironment (TME). Given the variations in the level of adipocyte infiltration in TME, the prognosis may differ among CRC patients. Thus, there is an urgent need to establish a reliable method for identifying adipocyte subtypes in CRC in order to elucidate the impact of adipocyte infiltration on CRC treatment and prognosis. Herein, 144 adipocyte-infiltration-related genes (AIRGs) were identified as predictive markers for the immune-associated features and prognosis of CRC patients. Based on the 144 genes, the unsupervised clustering algorithm identified two distinct clusters of CRC patients with variations in molecular and signaling pathways, clinicopathological characteristics and responses to CRC chemotherapy and immunotherapy. Furthermore, an AIRG prognostic signature was constructed and validated in independent datasets. Overall, this study developed a prognostic signature based on AIRGs in CRC, which may contribute to the development of personalized treatment strategies and enhance prognostic prediction for CRC patients.

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Autism spectrum disorder (ASD) is a heterogeneous developmental disorder characterized by impairments in two core areas: 1) social communication and interaction and 2) restricted and repetitive patterns of behaviors and interests. In general, ASD is known to be a lifelong disorder. Follow-up studies from childhood to adulthood have reported that the severity of the key symptoms ASD decreases over time. However, chronic health problems including mental health occur in many patients with ASD. The prevalence of ASD has increased from around 0.04% in the 1970s to 2.8% at present. The average age of diagnosis in developed countries is 38-120 months of age. Recent evidence suggests that biological factors which include genetic, congenital, immunological, neuroanatomical, biochemical, and environmental ones are important in causing autism. Until now, early signs and various risk factors of ASD have been suggested.

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Previous genome mining of the strains Bacillus pumilus 7PB, Bacillus safensis 1TAz, 8Taz, and 32PB, and Priestia megaterium 16PB isolated from canola revealed differences in the profile of antimicrobial biosynthetic genes when compared to the species type strains. To evaluate not only the similarities among B. pumilus, B. safensis, and P. megaterium genomes but also the specificities found in the canola bacilli, we performed comparative genomic analyses through the pangenome evaluation of each species. Besides that, other genome features were explored, especially focusing on plant-associated and biotechnological characteristics. The combination of the genome metrics Average Nucleotide Identity and digital DNA-DNA hybridization formulas 1 and 3 adopting the universal thresholds of 95 and 70%, respectively, was suitable to verify the identification of strains from these groups. On average, core genes corresponded to 45%, 52%, and 34% of B. pumilus, B. safensis, and P. megaterium open pangenomes, respectively. Many genes related to adaptations to plant-associated lifestyles were predicted, especially in the Bacillus genomes. These included genes for acetoin production, polyamines utilization, root exudate chemoreceptors, biofilm formation, and plant cell-wall degrading enzymes. Overall, we could observe that strains of these species exhibit many features in common, whereas most of their variable genome portions have features yet to be uncovered. The observed antifungal activity of canola bacilli might be a result of the synergistic action of secondary metabolites, siderophores, and chitinases. Genome analysis confirmed that these species and strains have biotechnological potential to be used both as agricultural inoculants or hydrolases producers. Up to our knowledge, this is the first work that evaluates the pangenome features of P. megaterium.

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PURPOSE: Problematic physical activity (PPA) is a symptom commonly present in patients suffering from anorexia nervosa (AN). This study aims to refine the clinical description of children with early-onset AN and adolescents with standard-onset AN and associated PPA, in order to better understand their associated features, and to offer them adapted care and physical activity programs. METHODS: 107 participants treated at the Salvator University Hospital Centre of Marseille for AN were retrospectively evaluated by the Exercise Dependence Scale Revised concerning PPA. Other self-report questionnaires were used to evaluate eating disorder, anxiety and depressive symptoms, quality of life, emotions, sleep, and attention deficit disorder with or without hyperactivity. RESULTS: In the entire sample, the presence of PPA was associated with significantly higher levels of eating disorder (EDI-2: p = 0.001) and body image concerns (p = 0.002), anxiety (STAI-Y-trait: p = 0.013) and depression (p = 0.006), as well as significantly lower psychological well-being (p < 0.001) and quality of life (p < 0.001) and impaired sleep (PSQI: p = 0.008). The early-onset group showed a lower prevalence of PPA than the standard-onset group (p < 0.05) but their clinical symptomatology, when this symptom was present, was significantly more severe (EDI-2: p < 0.01; BSQ: p < 0.05; CDI: p < 0.05; STAI-Y-trait: p < 0.05). CONCLUSION: PPA appears to be associated with more severe features in patients with early-onset AN, which seems to differ from standard-onset. It seems necessary to refine our knowledge on the involvement of PPA in the severity of AN, especially in patients with early-onset AN who remain little studied so far. LEVEL OF EVIDENCE: Level V, descriptive study (evaluation data retrospectively studied).

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BACKGROUND AND PURPOSE: Functional movement disorders (FMDs) pose a diagnostic challenge for clinicians. Over the years several associated features have been shown to be suggestive for FMDs. Which features mentioned in the literature are discriminative between FMDs and non-FMDs were examined in a large cohort. In addition, a preliminary prediction model distinguishing these disorders was developed based on differentiating features. METHOD: Medical records of all consecutive patients who visited our hyperkinetic outpatient clinic from 2012 to 2019 were retrospectively reviewed and 12 associated features in FMDs versus non-FMDs were compared. An independent t test for age of onset and Pearson chi-squared analyses for all categorical variables were performed. Multivariate logistic regression analysis was performed to develop a preliminary predictive model for FMDs. RESULTS: A total of 874 patients were eligible for inclusion, of whom 320 had an FMD and 554 a non-FMD. Differentiating features between these groups were age of onset, sex, psychiatric history, family history, more than one motor phenotype, pain, fatigue, abrupt onset, waxing and waning over long term, and fluctuations during the day. Based on these a preliminary predictive model was computed with a discriminative value of 91%. DISCUSSION: Ten associated features are shown to be not only suggestive but also discriminative between hyperkinetic FMDs and non-FMDs. Clinicians can use these features to identify patients suspected for FMDs and can subsequently alert them to test for positive symptoms at examination. Although a first preliminary model has good predictive accuracy, further validation should be performed prospectively in a multi-center study.

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Charcot-Marie-Tooth neuropathy (CMT) is a genetically and clinically heterogeneous group of neuromuscular disorders with an overall prevalence of 1 per 2500. Here we report the first comprehensive genetic epidemiology study of Hungarian CMT patients. 409 CMT1 and 122 CMT2 patients were enrolled and genetic testing of PMP22, GJB1, MPZ, EGR2 and MFN2 genes were performed routinely. NDRG1 and CTDP1 genes were screened only for founder mutations in Roma patients. Causative genetic mutations were identified in 67.2% of the CMT1 and in 33.6% of the CMT2 cases, which indicates an overall success rate of 59.9% in the study population. Considering all affected individuals, alterations were most frequently found in PMP22 (40.5%), followed by GJB1 (9.2%), MPZ (4.5%), MFN2 (2.5%), NDRG1 (1.5%), EGR2 (0.8%) and CTDP1 (0.8%). The phenotypic spectrum and the disease severity of the studied patients also varied broadly. Deafness and autoimmune disorders were more often associated with PMP22 duplication, while MFN2 and GJB1 mutations were frequently present with central nervous system abnormalities. Our study may be helpful in determining the strategy of genetic diagnostics in Hungarian CMT patients.

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OBJECTIVE: Little empirical attention has been paid to the DSM-5 definition of binge-eating disorder (BED), particularly to the associated features of binge episodes. The present study sought to determine how the associated features and undue influence of weight/shape on self-evaluation contribute to evidence of a clinically significant eating disorder. METHOD: Secondary analyses were conducted on data (N = 80; 76.3% women, 76.3% Caucasian, ages 18-43) collected through an epidemiological study of eating patterns. Descriptive statistics were used to report the sample prevalence of the features, independently and in combination. Correlations and alpha reliability were employed to examine relationships among associated features, distress regarding bingeing, and clinical diagnosis. Regression models and receiver-operating characteristic (ROC) curves were used to determine the utility of the features for explaining variance in distress. RESULTS: Internal consistency reliability for indicators was low, and several features demonstrated low or nonsignificant associations with distress and diagnosis. Feeling disgusted/depressed/guilty was the only unique predictor of distress (p = 0.001). For the ROC curves, three features was the best threshold for predicting distress. DISCUSSION: Results support the need to refine the features to ensure better detection of clinically significant eating pathology for research inclusion and treatment of the illness. © 2015 Wiley Periodicals, Inc. (Int J Eat Disord 2016; 49:524-528).

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Indroduction: Leptospirosis is a frequent cause of febrile illness around the world, particularly in tropical and subtropical areas such as Perú. Objective: To estimate the frequency and socio-demographic characteristics associated with leptospirosis in febrile patients in northern Perú. Materials and Methods: A cross sectional study was conducted from January to December 2014 in 143 fever cases admitted to the Hospital Regional Lambayeque, Perú. Structured for socio-demographic information and sanitation questionnaire was used. Serum samples were examined to quantitatively determine the presence of IgM antibodies to leptospira using ELISA IgM. Results: The frequency was 26.6% (95% CI 19.3 to 33.8) and independently associated features were: be between 20-54 years (OR: 3.36, 95% CI 1.17 to 9, 64), work in agriculture-livestock (OR: 6.15, 95% CI 1.99 to 19.05),contact with animals (OR: 4,13, IC 95%: 1,76-9,65) and consumption of unsafe water(OR: 3,33, IC 95%: 1,49-7,43). Conclusions: This study reveals a high frequency of leptospirosis among febrile patients from northern Perú. These results indicate the need to investigate routinely leptospirosis in febrile patients, especially those exhibiting risk characteristics.

Introducción: La leptopsirosis es causa frecuente de enfermedad febril alrededor del mundo, en particular en áreas tropicales y subtropicales como Perú. Objetivo. Estimar la frecuencia de leptospirosis y características socio-demográficas asociadas en pacientes febriles del norte del Perú. Material y Métodos: Se realizó un estudio transversal entre enero y diciembre de 2014 en 143 casos febriles admitidos en el Hospital Regional Lambayeque, Perú. Se usó un cuestionario estructurado para obtener información socio-demográfica y de saneamiento. Se examinaron muestras de suero para determinar cuantitativamente la presencia de anticuerpos IgM contra leptospira usando la técnica de ELISA IgM. Resultados: La frecuencia fue de 26,6% (IC 95%: 19,3-33,8) y las características asociadas independientemente fueron: tener entre 20 y 54 años (OR: 3,36, IC 95%: 1,17-9,64), dedicarse a la agricultura/ganadería (OR: 6,15, IC 95%: 1,99-19,05), el contacto con animales (OR: 4,13, IC 95%: 1,76-9,65) y el consumo de agua no potable (OR: 3,33, IC 95%: 1,49-7,43). Conclusiones: Este estudio revela una alta frecuencia de leptospirosis entre los pacientes febriles procedentes del norte del Perú. Estos resultados indican la necesidad de investigar la leptospirosis rutinariamente como causa de enfermedad febril, especialmente entre aquellos pacientes que presentan características de riesgo.

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