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Meningeal solitary fibrous tumors (SFT) are rare and have a high frequency of local recurrence and distant metastasis. In a cohort of 126 patients (57 female, 69 male; mean age at surgery 53.0 years) with pathologically confirmed meningeal SFTs with extended clinical follow‐up (median 9.9 years; range 15 days–43 years), we performed extensive molecular characterization including genome‐wide DNA methylation profiling (n = 80) and targeted TERT promoter mutation testing (n = 98). Associations were examined with NAB2::STAT6 fusion status (n = 101 cases; 51 = ex5‐7::ex16‐17, 26 = ex4::ex2‐3; 12 = ex2‐3::exANY/other and 12 = no fusion) and placed in the context of 2021 Central Nervous System (CNS) WHO grade. NAB2::STAT6 fusion breakpoints (fusion type) were significantly associated with metastasis‐free survival (MFS) (p = 0.03) and, on multivariate analysis, disease‐specific survival (DSS) when adjusting for CNS WHO grade (p = 0.03). DNA methylation profiling revealed three distinct clusters: Cluster 1 (n = 38), Cluster 2 (n = 22), and Cluster 3 (n = 20). Methylation clusters were significantly associated with fusion type (p < 0.001), with Cluster 2 harboring ex4::ex2‐3 fusion in 16 (of 20; 80.0%), nearly all TERT promoter mutations (7 of 8; 87.5%), and predominantly an "SFT" histologic phenotype (15 of 22; 68.2%). Clusters 1 and 3 were less distinct, both dominated by tumors having ex5‐7::ex16‐17 fusion (respectively, 25 of 33; 75.8%, and 12 of 18; 66.7%) and with variable histological phenotypes. Methylation clusters were significantly associated with MFS (p = 0.027), but not overall survival (OS). In summary, NAB2::STAT6 fusion type was significantly associated with MFS and DSS, suggesting that tumors with an ex5::ex16‐17 fusion may have inferior patient outcomes. Methylation clusters were significantly associated with fusion type, TERT promoter mutation status, histologic phenotype, and MFS. [ABSTRACT FROM AUTHOR]

This article discusses a rare form of tumor predisposition called atypical teratoid/rhabdoid tumor (ATRT) that arises in the setting of germline ring chromosome 22. ATRT is a type of embryonal neoplasm characterized by the inactivation of the SMARCB1 gene. Germline ring chromosome 22, although not directly affecting SMARCB1, can lead to somatic mosaicism for monosomy chromosome 22, increasing the risk of ATRT. The article presents two cases of ATRT associated with germline ring chromosome 22 and provides detailed molecular characterization of the tumors. It also highlights the potential clinical manifestations and suggests considering germline karyotype and chromosomal microarray for ATRT patients with dysmorphic features, developmental delay, or disproportionate growth. Additionally, the article reports the first case of multiple meningiomas occurring in a long-term survivor of ATRT with germline ring chromosome 22, which predisposes to both SMARCB1 and NF2 deficient tumors. The authors emphasize the need for clinical monitoring in patients with germline ring chromosome 22 and suggest considering germline chromosomal microarray for all ATRT patients with loss of chromosome 22 observed in the tumor. [Extracted from the article]

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Herein, a tight‐binding description is utilized to investigate electronic structures and density of states of single‐layer (SL) and bilayer (BL) graphene ribbons with and without the influence of external electric fields. Analyses are implemented to reveal the similarity and difference among electronic properties of three types of structures (specifically SL and BL ribbons with AA and AB stackings). Moreover, both armchair and zigzag edge orientations are considered. It is indicated in the results that variation in electronic properties of these structures in the presence of external electric fields depends on both structural form and edge orientation. The following two points are demonstrated: 1) a transverse field has a significant effect on adjusting bandgap of the zigzag configurations, whereas a vertical electric field has a distinct impact on energy bands of armchair edge structures, and 2) among considered structures, AB‐stacking BL ribbons are invariably the structures that are most strongly influenced by external fields. Interestingly, AB‐stacking BL ribbons are also capable of enlarging bandgap with both edge terminations. Herein, an insight into how the electronic structure and charge distribution of both SL and BL graphene nanoribbons can be controlled not only in armchair but also in zigzag edge terminations using electric stimulants is provided by the results. [ABSTRACT FROM AUTHOR]

Acetylserotonin O‐methyltransferase (ASMT) is a key enzyme in the synthesis of melatonin. Although melatonin has been shown to exhibit anticancer activity and prevents endocrine resistance in breast cancer, the role of ASMT in breast cancer progression remains unclear. In this retrospective study, we analyzed gene expression profiles in 27 data sets on 7244 patients from 11 countries. We found that ASMT expression was significantly reduced in breast cancer tumors relative to healthy tissue. Among breast cancer patients, those with higher levels of ASMT expression had better relapse‐free survival outcomes and longer metastasis‐free survival times. Following treatment with tamoxifen, patients with greater ASMT expression experienced longer periods before relapse or distance recurrence. Motivated by these results, we devised an ASMT gene signature that can correctly identify low‐risk cases with a sensitivity and specificity of 0.997 and 0.916, respectively. This signature was robustly validated using 23 independent breast cancer mRNA array data sets from different platforms (consisting of 5800 patients) and an RNAseq data set from TCGA (comprising 1096 patients). Intriguingly, patients who are classified as high‐risk by the signature benefit from adjuvant chemotherapy, and those with grade II tumors who are classified as low‐risk exhibit improved overall survival and distance relapse‐free outcomes following endocrine therapy. Together, our findings more clearly elucidate the roles of ASMT, provide strategies for improving the efficacy of tamoxifen treatment and help to identify those patients who may maximally benefit from adjuvant or endocrine therapies. What's new? Melatonin is associated with delayed breast cancer progression and improved survival in tamoxifen‐treated, estrogen receptor (ER)‐negative breast cancer patients. Whether acetylserotonin O‐methyltransferase (ASMT), which has a key role in melatonin synthesis, influences these effects of melatonin on breast cancer remains unclear. Here, ASMT expression was found to be significantly reduced in human breast cancer tumors. Moreover, patients with relatively high ASMT expression experienced improved relapse‐free survival outcomes and increased metastasis‐free survival times, particularly following tamoxifen therapy. These findings suggest that in certain subsets of ER‐negative patients, knowledge of ASMT expression could be used to better tailor treatment strategies. [ABSTRACT FROM AUTHOR]

Pleomorphic xanthoastrocytoma (PXA) is a rare astrocytoma predominantly affecting children and young adults. We performed comprehensive genomic characterization on a cohort of 67 patients with histologically defined PXA (n = 53, 79%) or anaplastic PXA (A‐PXA, n = 14, 21%), including copy number analysis (ThermoFisher Oncoscan, n = 67), methylation profiling (Illumina EPIC array, n = 43) and targeted next generation sequencing (n = 32). The most frequent alterations were CDKN2A/B deletion (n = 63; 94%) and BRAF p.V600E (n = 51, 76.1%). In 7 BRAF p.V600 wild‐type cases, alternative driver alterations were identified involving BRAF, RAF1 and NF1. Downstream phosphorylation of ERK kinase was uniformly present. Additional pathogenic alterations were rare, with TERT, ATRX and TP53 mutations identified in a small number of tumors, predominantly A‐PXA. Methylation‐based classification of 46 cases utilizing a comprehensive reference tumor allowed assignment to the PXA methylation class in 40 cases. A minority grouped with the methylation classes of ganglioglioma or pilocytic astrocytoma (n = 2), anaplastic pilocytic astrocytoma (n = 2) or control tissues (n = 2). In 9 cases, tissue was available from matched primary and recurrent tumors, including 8 with anaplastic transformation. At recurrence, two tumors acquired TERT promoter mutations and the majority demonstrated additional non‐recurrent copy number alterations. Methylation class was preserved at recurrence. For 62 patients (92.5%), clinical follow‐up data were available (median follow‐up, 5.4 years). Overall survival was significantly different between PXA and A‐PXA (5‐year OS 80.8% vs. 47.6%; P = 0.0009) but not progression‐free survival (5‐year PFS 59.9% vs. 39.8%; P = 0.05). WHO grade remained a strong predictor of overall survival when limited to 38 cases defined as PXA by methylation‐based classification. Our data confirm the importance of WHO grading in histologically and epigenetically defined PXA. Methylation‐based classification may be helpful in cases with ambiguous morphology, but is largely confirmatory in PXA with well‐defined morphology. [ABSTRACT FROM AUTHOR]

Highlights: Only known study focused on operationalizing mental well‐being for men and boysConcept mapping was used to develop a definition of men and boys' mental well‐being.Eight areas emerged as important aspects when defining men and boy's mental well‐being.Socio‐environmental and emotional well‐beings were the overarching domains of mental well‐being. A primary purpose of many prevention‐oriented interventions is to improve the general well‐being and quality of life for individuals and their communities. Unfortunately, well‐being is often poorly defined, with definitions embracing related issues of quality of life, happiness, and physical health. Mental well‐being as a concept is also poorly defined, particularly for different population groups. As part of a larger study to assess community‐level prevention efforts aimed at men and boys, a participatory approach was used to operationalize mental well‐being from a male‐centered, community‐based perspective using concept mapping. A set of 96 statements perceived as important aspects of mental well‐being for men and boys were developed and sorted by 90 participants from the study communities. The 8‐cluster solution was selected as the most parsimonious and the best conceptual fit in relation to the mental well‐being concept, namely, positive self‐worth, supportive community, community connections, positive masculinity, responsive institutions, strong social connection, dignity and respect, and safety. These eight clusters of mental well‐being, which were classified into two overarching domains of socio‐environmental and emotional well‐being, can provide a basis by which to assess community‐based programs aimed at this population. [ABSTRACT FROM AUTHOR]

Community‐based interventions (CBIs) have become an effective approach to promote mental well‐being. To increase organizational capacity and effectively deliver CBIs, leadership is crucial. The current study aims to identify leadership qualities that are facilitators of CBI implementation. This paper presents evaluation findings from a national effort emphasizing CBIs for improving the mental well‐being of men and boys in 16 local communities. The study utilized a mixed‐method design, including both examining each grantee as a case study and conducting a cross‐site evaluation. Findings revealed five leadership qualities that contributed to CBIs' success: personal vision, value‐based leadership, relationship‐oriented leadership, task‐oriented leadership, and leadership development. The results outline strategies for strengthening organizational capacity through these leadership qualities. This study adds to the limited literature on leadership qualities that strengthen organizational capacity to successfully implement CBIs and can serve as a guide for funders, program planners, and evaluators. [ABSTRACT FROM AUTHOR]

Introduction: People with cystic fibrosis (CF) are living longer, thus complications associated with age, such as hemoptysis, are increasing. The Institute of Medicine has emphasized the importance of patient‐centeredness. Although guidelines about hemoptysis in people with CF are available, these focus on management of the complication and not the patient perspective. Objective: We sought to understand hemoptysis from the point of view of those who have experienced it. Methods: We fielded an 11‐question survey to adults with CF and asked those who had hemoptysis to respond. Four questions had open‐ended options: (1) the person's first experience with hemoptysis, (2) how that experience affected the way they approach their CF, (3) how they deal with hemoptysis when it occurs outside the home and (4) a free text box for general comments. Results: Thirty‐one of 132 adults with CF who were sent a survey completed it (23% response rate); 63% F), indicated that they had experienced hemoptysis and described their triggers. In response to open questioning, 77% of respondents found their first experience with hemoptysis to be 'scary,' 'frightening,' 'worrying' or 'jarring.' Half of respondents reported quality of life being negatively affected by worsening stress or anxiety, fear of bleeding in public or other life impacts. Conclusions: Focusing on how to cope with future episodes of hemoptysis and the associated anxiety can be helpful to patients. Proactive communication and sensitivity to patient experience may deepen physician‐patient rapport, increase self‐efficacy to cope with future episodes and lead to more comprehensive care of hemoptysis. [ABSTRACT FROM AUTHOR]

Objective: To evaluate whether a behavioral weight management program combined with a smoking cessation program delivered via interactive technology could prevent postcessation weight gain.Methods: Three hundred and thirty young adult smokers, age 18 to 35 years, were randomized to a smoking cessation program alone (comparison group), which included behavioral counseling and nicotine replacement, or to a behavioral weight management program adapted from the Look AHEAD trial plus the same smoking cessation program (intervention group).Results: The Treating Adult Smokers at Risk for Weight Gain with Interactive Technology study randomized 164 participants to the comparison group and 166 participants to the intervention group. On average, the participants gained 0.91 kg after 24 months in the trial (comparison group + 1.45 kg and intervention group + 0.32; P = 0.157). The only variable systematically affecting weight change over time was smoking abstinence, in which those who were abstinent, on average, gained 0.14 kg more per month compared with those who continued to smoke (P < 0.001). In exploratory analyses, the intervention participants who were abstinent at 6 months had numerically smaller weight gains compared with abstinent participants in the comparison group, but these differences were not statistically significant.Conclusions: Providing an intensive weight gain prevention program combined with a smoking cessation program via interactive technology was not associated with greater long-term weight gain prevention. [ABSTRACT FROM AUTHOR]

Most satiety‐inducing obesity therapeutics, despitemodest efficacy, have safety concerns that underscore the need for effective peripherally acting drugs. An attractive therapeutic approach for obesity is to optimize/ maximize energy expenditure by increasing energy‐utilizing thermogenic brown adipose tissue. We used in vivo and in vitro models to determine the role of estrogen receptor β (ER‐β) and its ligands on adipose biology. RNA sequencing and metabolomics were used to determine the mechanism of action of ER‐β and its ligands. Estrogen receptor b (ER‐β) and its selective ligand reprogrammed preadipocytes and precursor stemcells into brown adipose tissue and increased mitochondrial respiration. An ER‐β‐selective ligand increased markers of tricarboxylic acid– dependent and–independent energybiogenesis andoxygen consumption inmicewithout a concomitant increase in physical activity or food consumption, all culminating in significantly reduced weight gain and adiposity. The antiobesity effects of ER‐β ligand were not observed in ER‐β‐knockout mice. Serum metabolite profiles of adult lean and juvenile micewere comparable, while that of adult obesemicewas distinct, indicating a possible impact of obesity on age‐dependentmetabolism. This phenotypewas partially reversed by ER‐β‐selective ligand. These data highlight a new role for ER‐β in adipose biology and its potential to be a safer alternative peripheral therapeutic target for obesity.—Ponnusamy, S., Tran, Q.T., Harvey, I., Smallwood, H. S., Thiyagarajan, T., Banerjee, S., Johnson, D. L., Dalton, J. T., Sullivan, R. D., Miller, D. D., Bridges, D., Narayanan, R. Pharmacologic activation of estrogen receptor α increases mitochondrial function, energy expenditure, and brown adipose tissue. FASEB J. 31, 266–281 (2017) www.fasebj.org [ABSTRACT FROM AUTHOR]

Ellis-van Creveld syndrome (EvC) is a ciliopathy with cardiac anomalies, disproportionate short stature, polydactyly, dystrophic nails and oral defects. To obtain further insight into the genetics of EvC, we screened EVC/ EVC2 mutations in eight Vietnamese EvC patients. All the patients had a congenital heart defect with atypical oral and/or skeletal abnormalities. One had compound heterozygous EVC2 mutations: a novel mutation c.769G > T-p.E177X in exon 6 inherited from father and another previously reported c.2476C > T-p.R826X mutation in exon 14 inherited from mother. The EVC2 mRNA expression level was significantly lower in the patient and her parents compared to controls. Another case had a novel heterozygous EVC mutation (c.1717C > G-p.S572X) in exon 12, inherited from his father. Of note, the mother without any EVC mutation on Sanger sequencing showed a lower expression level of EVC mRNA compared with controls. SNP array analysis revealed that the patient and mother had a heterozygous 16.4 kb deletion in EVC. This patient also had a heterozygous novel variant in exon 9 of EFCAB7 (c.1171 T > C-p.Y391H), inherited from his father. The atypical cardiac phenotype of this patient and the father suggested that EFCAB7 may modify the phenotype by interacting with EVC. In conclusion, we detected two novel nonsense mutations and a partial deletion of EVC/ EVC2 in two Vietnamese families with EvC. Moreover, we found in one family a missense mutation of EFCAB7, a possible modifier gene in EvC and its related disorders. [ABSTRACT FROM AUTHOR]

Acute respiratory infections are the major cause of morbidity and mortality globally. Human bocavirus (HBoV), a novel virus, is recognized to increasingly associate with previously unknown etiology respiratory infections in young children. In this study, the epidemiological, clinical, and molecular characteristics of HBoV infections were described in hospitalized Vietnamese pediatric patients. From April 2010 to May 2011, 1,082 nasopharyngeal swab samples were obtained from patients with acute respiratory infections at the Children's Hospital 2, Ho Chi Minh City, Vietnam. Samples were screened for HBoV by PCR and further molecularly characterized by sequencing. HBoV was found in 78 (7.2%) children. Co-infection with other viruses was observed in 66.7% of patients infected with HBoV. Children 12-24 months old were the most affected age group. Infections with HBoV were found year-round, though most cases occurred in the dry season (December-April). HBoV was possible to cause severe diseases as determined by higher rates of hypoxia, pneumonia, and longer hospitalization duration in patients with HBoV infection than in those without ( P-value <0.05). Co-infection with HBoV did not affect the disease severity. The phylogenetic analysis of partial VP1 gene showed minor variations and all HBoV sequences belonged to species 1 (HBoV1). In conclusion, HBoV1 was circulating in Vietnam and detected frequently in young children during dry season. Acute respiratory infections caused by HBoV1 were severe enough for hospitalization, which implied that HBoV1 may have an important role in acute respiratory infections among children. J. Med. Virol. 86:988-994, 2014. © 2013 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the efficacy and safety of adjunctive aripiprazole compared with standard antidepressant therapy (ADT) for older patients with major depressive disorder (MDD) who demonstrated an incomplete response to standard antidepressant monotherapy. Methods: Data from three similar 14-week studies (an 8-week prospective ADT treatment phase and a 6-week randomized, double-blind phase) of aripiprazole augmentation were pooled for this post hoc analysis. Two age groups were defined: younger patients (aged 18-49 years) and older patients (aged 50-67 years). The older patient group was further divided into three subgroups: 50-55, 56-60, and 61-67 years. The efficacy endpoint was the mean change in Montgomery-Asberg Depression Rating Scale (MADRS) total score from end of the prospective phase (Week 8) to endpoint (Week 14, last observation carried forward (LOCF)). Remission was defined as MADRS total score ≤10 at endpoint. Results: Four hundred and nine older patients (placebo, n¼198; aripiprazole, n¼211) and 679 younger patients (placebo, n=341; aripiprazole, n=338) were included in this analysis. Older patients receiving aripiprazole demonstrated significantly greater improvement in MADRS total score versus placebo at Week 14 (-10.0 vs. -6.4; p<0.001; LOCF), similar to the improvement seen in younger patients. Remission rates were significantly higher with aripiprazole versus placebo in older (32.5% vs. 17.1%; p<0.001) and younger (26.9% vs. 16.4%; p<0.001) patients. Akathisia was the most common adverse event in both the older (17.1%) and younger (26.0%) patient groups. Conclusions: Adjunctive aripiprazole was effective in improving depressive symptoms in older patients, 50-67 years, with MDD who have had an inadequate response to standard antidepressant medication. [ABSTRACT FROM AUTHOR]

Objective: To evaluate and compare the readability and quality of patient information generated by Chat-Generative Pre-Trained Transformer-3.5 (ChatGPT) and the American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) using validated instruments including Flesch-Kincaid Grade Level (FKGL), Flesch Reading Ease, DISCERN, and Patient Education Materials Assessment Tool for Printable Materials (PEMAT-P)., Methods: ENTHealth.org and ChatGPT-3.5 were queried for patient information on laryngology topics. ChatGPT-3.5 was queried twice for a given topic to evaluate for reliability. This generated three de-identified text documents for each topic: one from AAO-HNS and two from ChatGPT (ChatGPT Output 1, ChatGPT Output 2). Grade level and reading ease were compared between the three sources using a one-way analysis of variance and Tukey's post hoc test. Independent t-tests were used to compare DISCERN and PEMAT understandability and actionability scores between AAO-HNS and ChatGPT Output 1., Results: Material generated from ChatGPT Output 1 and ChatGPT Output 2 were at least two reading grade levels higher than that of material from AAO-HNS (p < 0.001). Regarding reading ease, ChatGPT Output 1 and ChatGPT Output 2 documents had significantly lower mean scores compared to AAO-HNS (p < 0.001). Moreover, ChatGPT Output 1 material on vocal cord paralysis had a lower PEMAT-P understandability compared to that of AAO-HNS material (p > 0.05)., Conclusion: Patient information on the ENTHealth.org website for select laryngology topics was, on average, of a lower grade level and higher reading ease compared to that produced by ChatGPT, but interestingly with largely no difference in the quality of information provided., Level of Evidence: NA Laryngoscope, 2024., (© 2024 The American Laryngological, Rhinological and Otological Society, Inc.)