cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.23436521
title: Supplementary Material for: Association of intradialytic hypertension with future cardiovascular events and mortality in hemodialysis patients: effects of ambulatory blood pressure

description: Introduction: Intradialytic-hypertension (IDHTN) is associated with increased risk of adverse outcomes. Patients with IDHTN have higher 44-hour blood pressure (BP) than patients without this condition. Whether the excess risk in these patients is due to the BP rise during dialysis per se or on elevated 44-h BP or other co-morbid conditions is uncertain. This study evaluated the association of IDHTN with cardiovascular events and mortality and the influence of ambulatory BP and other cardiovascular risk factors on these associations. Methods: 242 hemodialysis patients with valid 48-h ABPM (Mobil-O-Graph-NG) were followed for a median of 45.7 months. IDHTN was defined as: SBP rise ≥10mmHg from pre- to post-dialysis and post-dialysis SBP≥150mmHg. The primary end-point was all-cause mortality; the secondary endpoint was a composite of cardiovascular death, non-fatal myocardial infarction, non-fatal stroke, resuscitation-after cardiac-arrest, heart-failure-hospitalization, coronary or peripheral revascularization. Results: Cumulative freedom from both the primary and secondary endpoint was significantly lower for IDHTN patients (logrank-p=0.048 and 0.022, respectively), corresponding to higher risks for all-cause-mortality (HR=1.566; 95%CI [1.001, 2.450]) and the composite cardiovascular outcome (HR=1.675; 95%CI [1.071, 2.620]) in these individuals. However, the observed associations lost statistical significance after adjustment for 44-h SBP (HR=1.529; 95%CI [0.952, 2.457] and HR=1.388; 95%CI [0.866, 2.225], respectively). In the final model after additional adjustment for 44-h SBP, interdialytic-weight-gain, age, history of coronary-artery-disease, heart-failure, diabetes and 44-h PWV, the association of IDHTN with the outcomes was also not significant and the respective HRs were 1.377 (95%CI [0.836, 2.268]) and 1.451 (95%CI [0.891, 2.364]). Conclusions: IDHTN patients had higher risk for mortality and cardiovascular outcomes but this risk is at least partly confounded by the elevated BP levels during the interdialytic period.
DOI: 10.6084/m9.figshare.23665917
title: Supplementary Material for: BRCA2 frameshift mutation in de novo small-cell neuroendocrine carcinoma of the prostate: a case report

description: A 66-year-old male was diagnosed with cT4N0M1b small-cell neuroendocrine carcinoma of the prostate. Four months after the administration of combined androgen blockade, multiple novel metastatic regions in the lung and liver and progression of bone metastasis were observed. The patient was referred to our hospital because of biochemical and radiographic progression after four cycles of docetaxel as a first-line therapy for castration-resistant prostate cancer. Transurethral resection of the prostate and hepatic biopsy revealed small-cell carcinoma with positive expression of neuroendocrine markers. The FoundationOne CDx next-generation sequencing test revealed several pathogenic variants, including BRCA2 (W1692fs*3), KEAP1 (R320W), and TP53 (C2385) mutation. After four cycles of chemotherapy with carboplatin plus etoposide (CE), the metastatic regions regressed markedly. The prostate-specific antigen (PSA) and neuron-specific enolase (NSE) level decreased by 96.9% and 91.6%, respectively. However, 2 months after the completion of four cycles of CE, elevation of tumor marker levels, and re-growth of the metastatic regions were observed. Although olaparib, a poly (ADP-ribose) polymerase inhibitor (PARPi), achieved a 45.2% decrease in NSE, the patient rejected to continue therapy because of G2 adverse events. After receiving an additional two cycles of CE and one cycle of cabazitaxel, the patient died because of cancer progression 24 months after the initial treatment for prostate cancer. Here, we present a case of BRCA2-altered small-cell neuroendocrine prostate cancer treated with both platinum-containing chemotherapy and PARPi. Both therapies achieved an initial response; however, durable responses were not obtained. Additional discussion regarding the optimal treatment strategy for BRCA-altered small-cell/neuroendocrine prostate cancer is required.
DOI: 10.6084/m9.figshare.23666214
title: Supplementary Material for: Characteristics of molecular genetic mutations and their correlation with prognosis in adolescent and adult patients with ALL

description: Introduction: The prognosis of acute lymphoblastic leukemia (ALL) in adolescents and adults is poor, and recurrence is an important cause of their death. Changes of genetic information play a vital role in the pathogenesis and recurrence of ALL; however, the impact of molecular genetic mutations on disease diagnosis and prognosis remains unexplored. This study aimed to explore the frequency spectrum of gene mutations and their prognostic significance, along with the minimal residual disease (MRD) level and hematopoietic stem cell transplantation (HSCT), in adolescent and adult patients aged ≥15 years with ALL. Methods: The basic characteristics, cytogenetics, molecular genetics, MRD level, treatment regimen and survival outcome of patients with untreated ALL (≥15 years) were collected, and the correlation and survival analysis were performed using the SPSS 25.0 and R software. Results: This study included 404 patients, of which 147 were selected for next-generation sequencing (NGS). NGS results revealed that 91.2 % of the patients had at least one mutation, and 67.35% had multiple (≥ 2) mutations. NOTCH1, PHF6, RUNX1, PTEN, JAK3, TET2, and JAK1 were the most common mutations in T-ALL, whereas FAT1, TET2, NARS, KMT2D, FLT3, and RELN were the most common mutations in B-ALL. Correlation analysis revealed the mutation patterns, which were significantly different between T-ALL and B-ALL. In the prognostic analysis of 107 patients with B-ALL, multivariate analysis showed that the number of mutations ≥5 was an independent risk factor for overall survival and the RELN mutation was an independent poor prognostic factor for event-free survival. Discussion: The distribution of gene mutations and the co-occurrence and repulsion of mutant genes in patients with ALL were closely related to the immunophenotype of the patients. The number of mutations ≥5 and the RELN mutation were significantly associated with poor prognosis in adolescent and adult patients with ALL.
DOI: 10.6084/m9.figshare.23766087
title: Supplementary Material for: Feasibility of using the Global TALES protocol to elicit personal narratives in 10 year-old children in Ireland

description: Introduction. This small-scale study explored the feasibility of the Global TALES protocol in eliciting personal narratives in typically developing monolingual Irish children, using the online Zoom platform. We investigated children’s performance on measures of productivity (total number of utterances; total number of words) and syntactic complexity (MLU in words). We also documented the topics children talked about in response to the six emotion-based prompts contained in the Global TALES protocol. Methods: Nineteen typically developing children (6 male, 13 female), aged between 10,0 and 10,11years produced personal narratives in response to the Global TALES protocol. Given COVID-19 pandemic-related public health restrictions, the language samples were elicited using Zoom. All stories were transcribed and analysed using Systematic Analysis of Language Transcripts software. Qualitative content analysis was used to code the topics of the children’s stories. Results: Sixteen participants responded to all prompts. One participant only responded to three of the six prompts. The prompt that was least successful in eliciting response was the ‘problem’ prompt; 15.7% (n=3) of the children did not provide a response to this prompt. On average, children produced 40 utterances, although individual variability was high. On average, MLU was 8.7, ranging from 6 to 11. Children’s topics closely resembled those reported in the Global TALES feasibility study, despite the fact the current study took place during the COVID-19 pandemic. The most frequent topics were related to family (events, illnesses, relationships, siblings) and finding or fixing something. Conclusion: The Global TALES protocol was successful in eliciting personal narratives from 10 year-old Irish English-speaking children. Future larger scale studies are now needed to investigate if the results generalise to the wider Irish population with the view of creating local benchmarks of personal narrative performance.
DOI: 10.6084/m9.figshare.23909586
title: Supplementary Material for: Circulating microRNAs as biomarker for vessel-associated retinal diseases

description: Introduction: Vessel-associated retinal diseases are a major cause of blindness and severe visual impairment. The identification of appropriate biomarkers is of great importance to better anticipate disease progression and establish more targeted treatment options. MicroRNAs (miRNAs) are short, single-stranded, non-coding ribonucleic acids that are involved in the post-transcriptional regulation of gene expression through hybridization with messenger RNA. The expression of certain miRNAs can be different in patients with pathological processes and can be used for the detection and differentiation of various diseases. In this study, we investigate to what extent previously in vitro identified miRNAs are present as cell-free circulating miRNAs in serum and vitreous of human patients with and without vessel-associated retinal diseases. Methods: Relative quantification by qRT-PCR was used to analyze miRNA expression in patients with vessel-associated retinal diseases such as age-related macular degeneration (AMD), diabetic retinopathy (DR) and retinal vein occlusion (RVO) compared with control patients. Results: In serum samples, miR-29a-3p and miR-192-5p showed increased expression in patients with neovascular AMD relative to control patients. Similarly, miR-335-5p, miR-192-5p, and miR-194-5p showed increased expression in serum from patients with proliferative DR. In vitreous samples, miR-100-5p was decreased in patients with proliferative DR. Differentially expressed miRNAs showed good diagnostic accuracy in Receiver Operating Characteristic (ROC) and Area under the ROC Curve (AUC) analysis. Conclusion: The miRNAs investigated in this study may have the potential to serve as biomarkers for vessel-associated retinal diseases. Combining multiple miRNAs may enhance the predictive power of the analysis.
DOI: 10.6084/m9.figshare.23927415
title: Supplementary Material for: [18F] FDG PET/MR-defined EMVI predicts distant metastasis and reflects strong tumor invasiveness in rectal cancer

description: Introduction: Extramural vascular invasion in patients with rectal cancer is a poor prognostic factor associated with distant metastasis; thus, accurate preoperative diagnosis is important. However, the accurate detection of extramural vascular invasion using magnetic resonance imaging is difficult, and an improved diagnostic modality is required. In addition, the factors involved in the formation of EMVI remain unclear. In this study, we aimed to examine the ability of [18F] FDG PET/MRI to detect EMVI and elucidate the factors involved in EMVI. Methods: Thirty-one patients with rectal cancer were enrolled in this study between 2017 and 2021. We preoperatively evaluated the pelvic 18F-fluorodeoxyglucose positron emission tomography/ magnetic resonance imaging([18F] FDG PET/MRI) to detect extramural vascular invasion ([18F] FDG PET/MR-defined EMVI: pmrEMVI). To investigate the factors related to pmrEMVI, we confirmed the desmoplastic reaction and TWIST expression in the primary lesions of rectal cancer and examined its relationship with pmrEMVI. Results: Six of the 31 patients were pmrEMVI-positive. Four pmrEMVI-positive patients had distant metastases. The levels of immature desmoplastic reaction and TWIST1 expression were significantly higher in cases with pmrEMVI positivity. Conclusion: PmrEMVI is a useful biomarker for predicting distant metastasis. In addition, pmrEMVI was significantly correlated with factors related to tumor invasiveness.
DOI: 10.6084/m9.figshare.23978079
title: Supplementary Material for: Anti-vascular endothelial growth factor therapy regimens for polypoidal choroidal vasculopathy: a systematic review

description: Introduction: There are no guidelines on the optimal anti-vascular endothelial growth factor (anti-VEGF) monotherapy regimen for patients with polypoidal choroidal vasculopathy (PCV). In this study, we aimed to assess the comparative safety and efficacy of different treatment regimens of anti-VEGF monotherapy for PCV. Methods: We conducted a systematic literature search on Ovid MEDLINE, EMBASE, and Cochrane Library from January 2000 to May 2023 for comparative articles reporting on different treatment regimens of anti-VEGF agents in PCV. Our primary outcomes were the final best-corrected visual acuity (BCVA) and the change in BCVA from baseline. Secondary outcomes were the final retinal thickness (RT), the change in RT from baseline, the rate of polyp closure, and the incidence of adverse events. Results: A total of 10,440 studies were screened and seven studies reporting on 636 eyes with PCV at baseline were included in this systematic review. One RCT of 53 eyes found a similar final BCVA, change in BCVA from baseline, final RT, and complete polyp closure rate between a T&E regimen and a bimonthly fixed dosing regimen of aflibercept. This trial also found superiority of T&E for change in RT from baseline. One observational study of 33 eyes found a similar BCVA at last study observation between a pro-re-nata (PRN) regimen and bimonthly fixed dosing regimen of aflibercept. One observational study of 42 eyes found a similar change in BCVA from baseline and complete polyp closure rate between a PRN regimen and bimonthly fixed dosing regimen of aflibercept. One RCT of 249 eyes found a similar change in BCVA and RT from baseline, as well as polyp closure, between a T&E regimen and fixed 12-week dosing regimen of conbercept. One observational study of 30 eyes found a superiority of T&E aflibercept for change in BCVA and risk of polyp recurrence, compared to a PRN regimen. Discussion/Conclusion: Overall, there is a paucity of evidence comparing various treatment regimens of anti-VEGF therapy in patients with PCV. This limited evidence suggests that current treatment regimens are similarly efficacious, though T&E aflibercept achieved superior outcomes when compared to bimonthly dosing or PRN in some individual studies. Further trials are needed to confirm or refute these findings.
DOI: 10.6084/m9.figshare.23978226
title: Supplementary Material for: Life's Essential 8 and Mortality in US Adults with Chronic Kidney Disease

description: Introduction: The current prevalence of chronic kidney disease (CKD) is substantial, and CKD individuals face a heightened risk of mortality, encompassing both all-cause and cause-specific outcomes. The current study aims to investigate the potential impact of adhering to Life Essential 8 (LE8) on reducing mortality among CKD individuals. Methods: Using the National Health and Nutrition Survey (NHANES) data from 2005 to 2018, we analyzed 22,420 United States adults (≥20 years old). CKD is defined by urinary albumin-to-creatinine ratio (≥30 mg/g or 3 mg/mmol) and estimated glomerular filtration rate (&lt;60 ml/min/1.73m2). The components of LE8, including diet, physical activity (PA), nicotine exposure, sleep, Body Mass Index, blood lipids, blood glucose, and blood pressure (BP) were measured and given a score of 0-100. The total LE8 score was the unweighted average of all components and was divided into low cardiovascular health (CVH) (0-49), moderate CVH (50-79), and high CVH (80-100). Cox proportional hazards regression model was used to explore the associations of LE8 with all-cause, cardiovascular disease (CVD), and cancer mortality, which were followed prospectively by the National Center for Health Statistics until December 31, 2019. Results: In the overall population, individuals with moderate CVH had a 47% lower risk of CKD, while high CVH was linked to a 55% lower risk compared to low CVH. During a median follow-up of 7.58 years, CKD individuals had a 93% higher all-cause mortality rate and a 149% higher CVD mortality rate compared to those without CKD. Among the CKD individuals, every 10-point increase in LE8 score was associated with reduced risks of 17% for all-cause mortality (especially PA, nicotine exposure, blood glucose, and BP), 18% for CVD mortality (especially PA), and 12% for cancer mortality (especially PA and sleep health). In additional and sensitivity analysis, the results remained significant after further consideration of potential confounding of renal function. Additionally, LE8 demonstrated superior risk stratification for CVD mortality among CKD patients compared with LS7. Interaction was observed between LE8 and age, education level, marital status, and drinking status. Conclusions: The current study demonstrates that adherence to higher LE8 levels within CKD individuals is associated with a reduced risk of both all-cause and cause-specific mortality.
DOI: 10.6084/m9.figshare.24056790
title: Supplementary Material for: Prevalence of trimethoprim-sulfamethoxazole adverse reaction mislabelling in Australia

description: Introduction: Trimethoprim-sulfamethoxazole (TMP-SMX) is an important antibiotic, with the most compelling indications for Pneumocystis jirovecii pneumonia prophylaxis and methicillin-resistant Staphylococcus aureus treatment. Previous adverse reactions (AR) to TMP-SMX may limit the usability of TMP-SMX. Electronic medical record (EMR) recording of AR for other antibiotics has previously been shown to be inaccurate; however, the extent to which this occurs for TMP-SMX is unknown. Methods: A multi-centre retrospective observational study was conducted for consecutive inpatient admissions over a 2.5-year period commencing 2020. Adverse reactions to TMP-SMX recorded in the EMR were collected and reviewed by two independent medical officers using a pre-defined expert criteria for the classification of allergies and intolerances. Results: TMP-SMX AR were present in the EMR of 759 individuals (prevalence 0.6%). The majority were labelled as allergy (725, 95.5%) rather than intolerance (34, 4.5%). Most common AR were rash, vomiting, and swelling. When classified against the gold-standard expert criteria, there were 437 allergies (57.6%) and 159 intolerances (21.0%). Overall, the number of incorrect EMR AR labels was 133/759 (17.5%). Both medical and surgical specialties had significant numbers of patients with TMP-SMX AR labels and incorrectly classified EMR AR labels. Conclusion: TMP-SMX AR labels affect inpatients admitted under multiple specialty units. The user-entered categorisation as allergy or intolerance labels in EMRs are frequently used incorrectly. These incorrect labels may inappropriately contraindicate the use of TMP-SMX, and formal evaluation of TMP-SMX ARs with immunologic assessment and relabelling where appropriate may increase use of this agent.
DOI: 10.6084/m9.figshare.24071010
title: Supplementary Material for: EVI1 Disruption Post Neuroblastoma Treatment: A Case Analysis of Treatment-Associated Acute Myeloid Leukemia in a Pediatric Patient

description: In recent years, there has been an increasing focus on understanding the long-term consequences of pediatric cancer treatments, particularly the emergence of secondary malignant neoplasms (SMNs). Here, we present a case study highlighting the aftermath of treatment, where a pediatric patient, initially treated for neuroblastoma, developed treatment-related acute myeloid leukemia (tAML) six years later. Our investigation emphasizes the crucial role of EVI1 disruption in accelerating the progression of secondary tumors. This case underscores the significant risk of SMNs following pediatric cancer therapy.By analyzing genetic anomalies, we identified variations in the PTPN11 and KMT2C genes, suggesting a complex interplay between genetic susceptibility and chemotherapy-induced mutagenesis in tAML development. Furthermore, our exploration of the involvement of topoisomerase II inhibitors in tAML provides insights into potential future therapeutic approaches.Reporting this case is vital for deepening our understanding of the mechanisms driving secondary malignant neoplasms after pediatric cancer treatments. Through a comprehensive analysis of genetic anomalies and treatment variables, we can offer more precise clinical diagnoses and treatment strategies. This approach holds the potential to reduce the occurrence of secondary tumors and improve the long-term prognosis for pediatric patients.
DOI: 10.6084/m9.figshare.24083241
title: Supplementary Material for: Lung adenocarcinoma size decrease after SARS-CoV-2 vaccination during long-term pembrolizumab treatment: A case report

description: A man in his late 40s was diagnosed with clinical stage IVB lung adenocarcinoma with a PD-L1 tumor proportion score of 100% and high tumor mutational burden. A partial response was achieved after administration of pembrolizumab. The patient received two doses of a SARS-CoV-2 vaccine (BNT162b2) after 59 courses, and a chest CT revealed consolidation in the peri-tumoral area, which subsequently disappeared, and the tumor continued to shrink in the next four months. This case provides indirect evidence for the persistence of cancer immunity during long-term treatment with immune checkpoint inhibitors and the potential for further activation.
DOI: 10.6084/m9.figshare.24083571
title: Supplementary Material for: Systemic AA amyloidosis secondary to metastatic renal cell carcinoma in a hemodialysis patient with intractable diarrhea

description: We describe an autopsied case of systemic AA amyloidosis secondary to metastatic renal cell carcinoma presenting intractable diarrhea. Severe diarrhea was the major symptom for the diagnosis of AA amyloidosis. No renal symptoms which are common in AA amyloidosis secondary to renal cell carcinoma were shown because hemodialysis following bilateral nephrectomy had already been started nine years before. Treatment against metastatic tumors as a solution of AA amyloidosis could not be performed because of bad performance status and the patient died five months after the diagnosis. Autopsy findings revealed that AA amyloid deposition was seen in multi organs including the intestine. The metastatic tumors were histologically compatible as metastasis of renal cell carcinoma. There was no other cause of chronic inflammation such as inflammatory arthritis. We concluded that chronic inflammation provoked by the metastatic tumors of renal cell carcinoma was a major cause of systemic AA amyloidosis. Intestinal AA amyloidosis with malabsorption was the cause of death. Clinicians should keep it in mind that solid organ malignancy can be a cause of AA amyloidosis and renal cell carcinoma is the most common carcinomatous cause. This case is particularly instructive in that progression of amyloidosis may be missed in hemodialysis patients with anuria and that gastrointestinal symptoms can be the primary indicators of systemic amyloidosis. Endoscopic examination including biopsy is important for the diagnosis and early treatment of amyloidosis.