bluuebunny/crossref_metadata_2025_split huggingface dataset:
10114-GMC-10 EXPERIENCE WITH DIFFERENTIAL NTRK2 FUSION GENE DETECTION IN CANCER MULTI-GENE PANEL TESTING
Authors: Muto Jun , Sugihara Eishi , Tsukamoto Kentaro , Yamada Eiji , Sudo Tamotsu , Saya Hideyuki , Hirose Yuichi 
Published: December 2023

Abstract

INTRODUCTION
NTRK fusion gene-positive CNS tumours are rare and there are only two reports in Japan of the use of entrectinib, both in children; This is third case and the first adult case was experienced; the patient was treated by taking entrectinib. The diagnosis and treatment course are reported here and the problems with current oncopanel testings are discussed.

CASE
Female in her 60s. She came to the hospital on her own with a chief complaint of unstable walk. A mass with a maximum diameter of 8 cm was found in the right temporal occipital lobe. She underwent craniotomy followed by radiotherapy, and in-house panel testing (PleSSision Rapid Neo) detected two BCR-NTRK2 fusion genes. Subsequently, no NTRK gene abnormalities were detected in the foundation-one. Sanger sequencing was performed by ourselves, which could still detect gene mutations, and the patient was submitted to the NCC Onco-Panel at his own expense, where NTRK fusion gene abnormalities could be detected, and after review by the in-house ethics committee, he was started on entrectinib. The tumor showed a shrinking effect and has been stable for eight months.

RESULT
In the in-house panel test, NTRK2 covered Intron8,9,10,11,12 and two BCR-NTRK2 fusion genes were detected, (Exon1-Exon13) and (Exon1-Exon12). Foundation one covered Intron12 and no genetic variants were detected this time. Subsequently, the NCC OncoPanel test covered Intron 9, 10, 12, 13 and 14 and was able to detect fusion gene mutations. Different results were obtained for NTRK2 fusion gene mutations in each panel test, with different detection coverage. The differences in NTRK fusion gene mutations between tests indicate that it is important to reconfirm which panel test to choose.

CONCLUSION
Third case in Japan and first adult case of NTRK fusion gene mutation-positive brain tumor; may need to be addressed in NTRK fusion gene detection, recognizing differences in cancer multi-gene panel testing.
10179-NI-8 CLINICORADIOLOGICAL CHARACTERISTICS OF H3 K27-ALTERED THALAMIC GLIOMAS
Authors: Hayashi Nobuhide , Fukai Junya , Nakatogawa Hirokazu , Kawaji Hiroshi , Okita Yoshiko , Kijima Noriyuki , Shofuda Tomoko , Yoshioka Ema , Kanematsu Daisuke , Katsuma Asako , Sumida Miho , Nakao Naoyuki , Mori Kanji , Kanemura Yonehiro 
Published: December 2023

Abstract

BACKGROUND
Diffuse midline glioma (DMG), H3 K27-altered (CNS WHO grade 4, 2021), exhibits diverse imaging features, and its characteristics have not yet been established.

METHODS
We retrospectively analyzed the imaging features and progression patterns of cases with H3p.K27M mutation in the thalamus, as part of the Kansai Molecular Diagnosis Network for CNS Tumors.

RESULTS
Among the H3p.K27M mutation cases accumulated from May 2007 to July 2022 (total 109 cases), 47 cases were located in the thalamus. The main tumor location was as follows: right side 23 cases, left side 19 cases, bilateral 4 cases and unknown 1 case. The tumor border was well-defined in 18 cases (38.3%), indistinct in 26 cases (55.3%), and uncertain in 3 cases (6.4%). Contrast enhancement was observed in 36 cases (76.6%), necrosis in 29 cases (61.7%), cyst formation in 11 cases (23.4%), peritumoral brain edema in 15 cases (31.9%), ventricular enlargement in 28 cases (59.6%), and evidence of cerebrospinal fluid dissemination on imaging in 8 cases (17.0%). The degree of tumor progression from the main tumor to the surrounding area was scored from 1 to 5 (mean: 3.5, median: 4).

SURVIVAL RESULTS
Among 43 cases with confirmed overall survival (OS) and progression-free survival (PFS), the median OS was 19.2 months (95% CI: 13.2-25.2), and the median PFS was 9.8 months (95% CI: 5.4-14.2). In univariate analysis, favorable prognostic factors were preoperative KPS 80 over(p = 0.007), and tumor progression score of 2 or less (p = 0.01). However, in multivariate analysis, only a tumor progression score of 2 or less remained the sole independent factor (p = 0.03, HR: 3.89, 95% CI: 1.14-13.3).

DISCUSSION AND CONCLUSION
A large-scale prospective study is needed, but in H3 K27M-mutant thalamic gliomas, the extent of tumor progression before surgery may be a prognostic factor.
10181-STMO-9 EFFECT OF INTRAOPERATIVE VENTRICULAR OPENING ON RECURRENCE PATTERNS FOLLOWING BCNU WAFER IMPLANTATION FOR NEWLY DIAGNOSED MALIGNANT GLIOMA
Authors: Yamada Kengo , Matsuda Ryosuke , Maeoka Ryosuke , Yokoyama Shohei , Kotsugi Masashi , Tamura Kentaro , YAMADA Shuichi , Nishimura Fumihiko , Nakagawa Ichiro , Boku Eishu 
Published: December 2023

Abstract
To evaluate the effect of ventricular opening (VO) on recurrence patterns in patients with newly diagnosed malignant glioma treated with bis-chloroethyl-nitrosourea (BCNU) wafer implantation. This single-center retrospective study included 45 patients with newly diagnosed malignant glioma who received BCNU wafer implantation after tumor resection between March 2013 and December 2021. The patients were categorized into two groups based on whether VO occurred during the malignant glioma resection. While 20 patients received VO, 25 did not receive VO. Recurrence patterns classified as local, diffuse, distant, or multifocal and time to recurrence were compared between patients with and without VO. Median survival time was comparable between patients with VO and patients without VO (32 months vs. 26 months, p = 0.95). Recurrence occurred in 28/46 patients (60.8%) in entire cohort. The incidence of recurrence was comparable between patients with VO and patients without VO (12 [60%] vs. 16 [64%], p = 1.0). No significant differences were seen between the two groups in time to recurrence (p = 0.657) or recurrence patterns (p = 0.13). Ventricular opening during surgery with BCNU wafer implantation does not seem to influence the recurrence patterns. Ventricular opening does not induce distant recurrence if appropriate ventricular closure is performed.
10190-MPC-14 ANALYSIS OF GENETIC ABNORMALITIES IN TERTP-WILDTYPE MOLECULAR GBM
Authors: Ogawa Takahiro , Takahashi Yoshinobu , Taniyama Ichita , Yamanaka Takumi , Hashimoto Naoya 
Published: December 2023

Abstract
Glioblastoma (GBM) is frequently linked to TERTp mutations. However, even in cases without these mutations, genetic alterations such as EGFR amplification or chromosome7 amplification/ chromosome10 deletion can lead to GBM diagnosis. In this study, we compared genetic differences between these molecularly characterized GBM (molGBM) cases and GBM cases without these features, focusing on 26 GBM cases lacking IDH and TERTp mutations from January 2016 to February 2022. Using Multiplex Ligation-dependent Probe Amplification (MLPA), we examined copy number changes in key genes (PDGFRA, EGFR, CDKN2A, PTEN, TP53, CDK4, MIR26A2, MDM2, NFKBIA). The thresholds for copy number changes were homozygous deletion (x≤0.4), loss of heterozygosity (LOH) (0.4&lt;x≤0.7), gain (1.3≤x&lt;2.0), amplification (x≥2.0). If PTEN LOH was present, it was considered chromosome10 deletion. Among the 26 cases, three were diagnosed as molGBM: two with EGFR amplification and one with chromosome7 amplification/ chromosome10 deletion. The remaining 23 had pathological GBM diagnoses. Notably, some cases showed amplifications in PDGFRA, CDK4, and MIR26A2, as well as LOH in TP53. In the control group, amplifications in PDGFRA, CDK4, MIR26A2, and LOH in TP53, CDKN2A, and MIR26A2 were observed. The genetic abnormalities observed in the molGBM group were similar to those in the control group. Further studies should clarify the correlation between these genetic abnormalities and the molecular GBM signature and their clinical significance.
10210-STMO-13 CLINICAL AND GENETIC ANALYSIS OF ADULT THALAMIC GLIOMAS - SIGNIFICANCE OF H3K27M AND TERT MUTATIONS
Authors: Tsuzuki Shunsuke , Nitta Masayuki , Muragaki Yoshihiro , Saito Taiichi , Maruyama Takashi , Kouriyama Shunichi , Ro Buntou , Kawamata Takakazu 
Published: December 2023

Abstract
Adult thalamic glioma (ATG) is a rare but deep lesion that is difficult to remove and often refractory to treatment. The diffuse midline glioma (DMG), H3K27M-mutant, newly introduced in the WHO 2016 classification, constitutes part of ATG, but the significance of H3K27M mutations in adult ATG and the prognosis of thalamic DMG are variable and inconsistent among reports. We retrospectively analyzed clinical, pathological, and molecular characteristics of 45 consecutive ATG cases operated on at our institution from 2007 to 2022, and examined outcomes and prognostic factors. The median age was 45 years (range, 18-74), median preoperative KPS was 70% (range, 40-100), median maximum tumor diameter on MRI was 37 mm (range, 22.6-62.6), Gd contrast was present in 31, and bilateral disease was present in 8 patients. 31 patients underwent resection and 14 underwent biopsy. Differences in the surgical approach did not affect OS. WHO G2: 2, G3: 7, and G4: 36, and all IDH wild-type. The mPFS for all patients was 9.5 months and mOS was 26.0 months; G4 consisted of 19 DMG and 17 GBM with mOS of 30.4 months DMG vs. 12.4 months GBM (P=0.012). Analysis of all cases showed a trend toward better prognosis for H3K27M mutation cases (P=0.118), while TERT was significantly worse for the mutation type with 29.2 months for wild type vs. 9.3 months for the mutation type (P=0.026). In univariate analysis, age and TERT mutation status were prognostic factors for OS, and in multivariate analysis, WHO grade was a prognostic factor for OS in addition to these factors. In the past literature of pediatric cases, H3K27M mutation was often reported as a prognostic factor, but in the present study, TERT mutation was the prognostic factor, suggesting that the significance of H3 mutation in thalamic gliomas in adults and children is different.
10221-ML-11 A CASE OF PRIMARY CENTRAL NERVOUS SYSTEM ADULT T CELL LEUKEMIA
Authors: Seiya Yosuke , Sasaki Nobuyoshi , Kobayashi Makoto , Hidaka Rei , Saito Kuniaki , Hibiya Takashi , Yamagishi Yuki , Ikeda Kensuke , Kobayashi Keiichi , Komori Takashi , Nakatomi Hirofumi , Takayama Nobuyuki , Shibahara Junji , Nagane Motoo 
Published: December 2023

Abstract
Adult T cell leukemia (ATL) manifesting only in the central nervous system (CNS) at presentation is rare. We present a case of primary CNS ATL. 54 year old male presenting with multiple enhanced lesions in the cerebrum went under biopsy and was diagnosed as T-cell lymphoma. While systemic workup was negative, human T-cell leukemia virus type 1 (HTLV-1) antibody was found to be seropositive. Southern blotting using peripheral blood DNA revealed positivity for clonal proliferation of HTLV-1 infected cells. He was therefore clinically diagnosed as primary CNS ATL. He received chemotherapy using methotrexate, procarbazine and vincristine (MPV), and gained a complete response unconfirmed (CRu) after completion of four cycles. However, relapse occurred after the fifth cycle of MPV. Salvage treatment using etoposide, cisplatin, cytarabine and prednisone (ESHAP), whole brain radiation therapy, and lenalidomide, were delivered as second, third, and fourth line therapies, but were ineffective and disease continued to progress. He was therefore treated by best supportive care. Primary CNS ATL should be considered in the differential diagnosis of brain tumors. Southern blotting using peripheral blood might be useful for clinical diagnosis in such cases.
10223-ML-12 SYSTEMIC RELAPSE OF PRIMARY CENTRAL NERVOUS SYSTEM LYMPHOMA
Authors: Miyakita Yasuji , Ohno Makoto , Takahashi Masamichi , Yanagisawa Shunsuke , Narita Yoshitaka 
Published: December 2023

Abstract
PCNSL remains a poor prognosis, with many patients relapsing despite induction high-dose MTX-based chemotherapy and subsequent maintenance therapy. Most recurrences occur in the brain parenchyma, but in rare cases, systemic relapse may occur. We report the clinical and pathological features of the patients with systemic relapse of PCNSL. We examined 165 PCNSLs treated at our hospital since 2005. 102 of the 165 had recurrence, and 11 of these were diagnosed as systemic relapse. The 11 patients at the time of initial diagnosis had 8 males and 3 females, age 49-81 years (median 67), and KPS 50-90 (median 70). The 11 patients at the time of recurrence had age 62-66 years (median 71), KPS 50-100 (median 60), and the sites of recurrence were abdominal lymph nodes in 3 patients, gastrointestinal tract in 3, pleural effusion in 3, and others in 2. The time to systemic relapse ranged from 11.3 to 156.1 months (median 36.4), survival after recurrence ranged from 0.1 to 89 months (median 16.1), and overall survival ranged from 16.5 to 192 months (median 66.5). Tissue sampling at relapse was performed in 9 patients, 8 of whom had DLBCL. Recurrence of PCNSL is often in the brain, and although recurrence outside the CNS occurs in less than 10%, careful follow-up is necessary. Although it has been reported that recurrence in the testes and breast is common, in our case, recurrence in lymph nodes and pleural effusions was common, and genetic histological evaluation, including discussion of the difference from the primary CNS, is considered necessary. Although the prognosis and KPS of PCNSL are poor, there are cases in which a good condition can be maintained with reliable diagnosis and treatment. Detailed clinical information, including genetic analysis at the time of initial onset and at the time of recurrence, is needed.
Ageism Without Anticipation-Blindness
Authors: Andersen Martin Marchman , Nielsen Lasse 
Published: December 2023

Abstract
Ageism is the view that it is of greater moral value to allocate health care resources to younger people than to older people. In medical ethics, it is well-known that standard interpretations of distributive principles such as utilitarianism and egalitarianism imply some form of ageism. At times, ethicists argue as if practical complications are the only or main reason for not abiding to ageism. In this article, we argue that inferences to ageism from such distributive principles tend to commit what we call the anticipation-blindness fallacy: A much too narrow focus on life quality benefits of health care treatments inclines us to overlook the importance of life quality benefits of health care safety, that is the mere trust in and expectation of being treated and cared for as one grows old. This is a key omission because health safety has value for a much larger population and for much longer time. Taking health safety into account therefore has important implications as for how ageist we ought to be.
Imagining the Past of the Present
Authors: Windsor Mark 
Published: December 2023

Abstract
Some objects we value because they afford a felt connection with people, events or places connected with their past. Visiting Canterbury cathedral, you encounter the place where, in 1170, Archbishop Thomas Becket was murdered by four knights of Henry II. Knowing that you are standing in the very place where Becket's blood was spilled gives the past event a sense of tangible reality. One feels ‘in touch with’ the past; history seems to ‘come alive’. In this paper, I propose an explanation for the phenomenology of such experiences in terms of an imaginative activity that represents what an object is historically connected with as part of the object in the present. One imagines of the site of Becket's murder Becket being murdered. According to my account, objects that embody their histories are representations in Kendall Walton's sense: they have the function of serving as props in games of make-believe.
A community-based volunteer service to reduce COVID-19 vaccination inequities in New York City
Authors: Tay Ee Tein , Fernbach Madalyn , Chen Haidee , Ng Charis , Tapia Jade , O’Callaghan Stasha 
Published: December 2023

Abstract

Objectives
We describe our experiences and challenges as community volunteers in assisting individuals in scheduling initial COVID-19 vaccine appointments and highlight disparities and barriers in vaccine access in New York City (NYC).

Methods
Priority for assistance was given to individuals who were eligible for vaccination in NYC and New York State with the following barriers: technological, language, medical, physical and undocumented immigrants. Volunteers in NYC performed outreach and created program to assist in scheduling appointments.

Results
In sum, 2101 requests were received to schedule COVID-19 vaccine appointments from 28 February to 30 April 2021. Vaccinations were successfully scheduled for 1935 (92%) individuals. Challenges in this project included limited community outreach, language barriers, transportation difficulties and safety concerns travelling to vaccination sites. Spanish (40.5%) and Chinese (35.6%) were the primary languages spoken by appointment requesters. Most requests came from residents of Queens (40%) and Brooklyn (27.2%).

Conclusions
The older population, public-facing workers, non-English speakers, undocumented immigrants and the medically complicated population experienced challenges in vaccine appointment access. In-person services and early website access in languages in addition to English may have reduced barriers in appointment navigation. While volunteers faced numerous obstacles when assisting individuals in scheduling vaccine appointments, most found the work fulfilling and rewarding.
Associations of DMARDs with post-acute sequelae of COVID-19 in patients with systemic autoimmune rheumatic diseases: a prospective study
Authors: Venkat Rathnam K , Wang Xiaosong , Patel Naomi J , Kawano Yumeko , Schiff Abigail , Kowalski Emily N , Cook Claire E , Vanni Kathleen M M , Qian Grace , Bade Katarina J , Saavedra Alene , Srivatsan Shruthi , Williams Zachary K , Wallace Zachary S , Sparks Jeffrey A 
Published: December 2023

Abstract

Objective
We investigated the baseline DMARD use and post-acute sequelae of COVID-19 (PASC) risk among patients with systemic autoimmune rheumatic diseases (SARDs).

Methods
Patients with SARDs and confirmed COVID-19 infection at Mass General Brigham completed a survey ≥28 days after a positive PCR/antigen test to prospectively investigate their COVID-19 courses. We investigated DMARD use at COVID-19 onset and PASC risk. PASC was defined as any COVID-19 symptom that persisted for ≥28 days. We used logistic regression to estimate the odds ratios (OR) for PASC by DMARD class. We also used restricted mean survival time to determine the difference in symptom-free days by DMARD class in the 28-day period after infection.

Results
We analysed 510 patients with SARDs and COVID-19 from 11 March 2021 to 17 June 2023; 202 (40%) developed PASC. CD20 inhibitor (CD20i) users had significantly higher odds of developing PASC vs conventional synthetic DMARD (csDMARD) users [adjusted OR (aOR) 2.69 (95% CI 1.23, 5.88)]. IL-12/23, IL-17A or IL-23 inhibitor (IL-12/23i, IL-17Ai, IL-23i) users also had significantly higher odds of PASC [aOR 3.03 (95% CI 1.08, 8.49)]. CD20i users had significantly fewer symptom-free days vs csDMARD users [aOR −4.12 (95% CI −7.29, −0.94)].

Conclusion
CD20i users had significantly higher odds of PASC and fewer symptom-free days over the 28 days following COVID-19 diagnosis compared with csDMARD users. Further research is needed to investigate whether PASC risk in CD20i users may be due to prolonged infection or other immune mechanisms. The association of IL-12/23i, IL-17Ai and IL-23i with PASC calls for additional study.
Which fatigue scale should I use? A Rasch analysis of two fatigue scales in inflammatory conditions
Authors: Bartholomew Emerson J , Medvedev Oleg N , Petrie Keith J , Chalder Trudie 
Published: December 2023

Abstract

Objectives
This study aimed to assess the psychometric properties of two widely used fatigue scales in a sample of patients with inflammatory conditions.

Methods
Rasch analysis was used to examine scale reliability, item bias, unidimensionality and overall fit to the Rasch model. Subtest methodology was utilized to attempt to improve model fit for the Chalder Fatigue Scale (CFQ) and Bristol Rheumatoid Arthritis Fatigue Multidimensional Questionnaire (BRAF-MDQ).

Results
Initial analysis displayed strong reliability (person separation index 0.89–0.96) alongside a lack of item bias in both scales. However, evidence for unidimensionality was not found for either scale. Overall fit to the Rasch model was marginal for the CFQ and misfitting for the BRAF-MDQ. Local dependency was observed as well as significant item misfit for both scales. Subtest modifications resulted in the best model fit for the BRAF-MDQ [χ2(16) = 15.77, P = 0.469] and the CFQ [χ2(25) = 15.49, P = 0.929]. Modifications resulted in improved fit, reductions in measurement error and the production of ordinal-to-interval conversion tables for both scales. Conversion tables apply the benefits of enhanced measurement accuracy, valid comparison of BRAF-MDQ and CFQ scores to other interval-level data, appropriate use in parametric statistics and enhanced precision in clinical cut-off scores—without the need to change administration format.

Conclusion
The BRAF-MDQ and CFQ are valid, reliable tools for fatigue assessment. Psychometric indices and content factors suggest the CFQ is suited to measuring general fatigue, particularly when response burden is a concern, while the BRAF-MDQ should be used in clinical presentations where other symptoms are severe and the impact of fatigue on daily living and emotional and social well-being is of interest.
Entrance surface air kerma to patients during digital radiographic examinations in Tanzania
Authors: Makoba Atumaini , Jusabani Ahmed , Muhogora Wilbroad , Kileo Abdallah , Ndukeki Musa , Makungu Hilda , Maro Haika , Onoka Erick , Ngulimi Miguta , Mammba Huruma , Muhulo Alex , Masoud Ali , Balobegwa Vitus , Ngoye Wilson , Nakembetwa Adam 
Published: December 2023

Abstract
The aim of this study was to determine the entrance surface air kerma (ESAK) in adult patients during digital radiography and to evaluate the optimisation potential in five common X-ray examinations in Tanzania. Based on a sample of 240–610 patients, ESAK was estimated using X-ray tube output measurements, patient information and backscatter factors. The results show that the mean ESAK values were higher or comparable to data from the literature. The diagnostic reference values of ESAK for digital radiography were 0.31 mGy (chest PA), 4 mGy (lumbar spine AP), 5.4 mGy (lumbar spine LAT), 3.8 mGy (abdomen AP) and 2.4 mGy (pelvis AP). For computed radiography, the mean ESAK ranges were 0.44–0.57 mGy (thoracic AP), 3.59–3.72 mGy (lumbar spine AP), 6.16–6.35 mGy (lumbar spine LAT), 3.89–3.44 mGy (abdominal AP) and 2.92–3.47 mGy (pelvic AP). In conclusion, high ESAK variations show the potential for optimising protection in digital radiology.
Job separation and well-being in couples’ perspective in the United Kingdom
Authors: Di Nallo Alessandro 
Published: December 2023

Abstract
The consequences of job uncertainty on well-being are widely known. Yet not all types of job separation might be equally detrimental: the level of expectedness and voluntariness of job ends may shape the consequences on workers and their partners. This article explores the associations of four types of job termination with well-being in a couple’s perspective. Combining two British longitudinal surveys (1991–2021) (N ∼ 13,000 couples), the analyses apply fixed-effects models to estimate deviations of the well-being for workers and partners. Also, the patterns of anticipation and habituation of each episode of job termination are investigated. The results show that events such as dismissals and redundancies—more unanticipated and involuntary—are associated with larger drops in well-being than other more preventable and voluntary causes of job separation. The responses differ between workers and their partners and by gender. Further, anticipation and habituation patterns vary across the types of job separation.