Miracle-dz/UniFAR-FTUs huggingface dataset:
SwinDAE: Electrocardiogram Quality Assessment Using 1D Swin Transformer and Denoising AutoEncoder

Objective: Electrocardiogram (ECG) signals have wide-ranging applications in various fields, and thus it is crucial to identify clean ECG signals under different sensors and collection scenarios. Despite the availability of a variety of deep learning algorithms for ECG quality assessment, these methods still lack generalization across different datasets, hindering their widespread use. Methods: In this paper, an effective model named Swin Denoising AutoEncoder (SwinDAE) is proposed. Specifically, SwinDAE uses a DAE as the basic architecture, and incorporates a 1D Swin Transformer during the feature learning stage of the encoder and decoder. SwinDAE was first pre-trained on the public PTB-XL dataset after data augmentation, with the supervision of signal reconstruction loss and quality assessment loss. Specially, the waveform component localization loss is proposed in this paper and used for joint supervision, guiding the model to learn key information of signals. The model was then fine-tuned on the finely annotated BUT QDB dataset for quality assessment. Results: SwinDAE achieved 0.02–0.13 mean F1 score improvement on the BUT QDB dataset compared to multiple deep learning methods, and demonstrated applicability on two other datasets. Conclusion: The proposed SwinDAE shows strong generalization ability on different datasets, and surpasses other state-of-the-art deep learning methods on multiple evaluation metrics. In addition, the statistical analysis for SwinDAE prove the significance of the performance and the rationality of the prediction. Significance: SwinDAE can learn the commonality between high-quality ECG signals, exhibiting excellent performance in the application of cross-sensors and cross-collection scenarios.
Digital Staining of White Blood Cells With Confidence Estimation

Chemical staining of the blood smears is one of the crucial components of blood analysis. It is an expensive, lengthy and sensitive process, often prone to produce slight variations in colour and seen structures due to a lack of unified protocols across laboratories. Even though the current developments in deep generative modeling offer an opportunity to replace the chemical process with a digital one, there are specific safety-ensuring requirements due to the severe consequences of mistakes in a medical setting. Therefore digital staining system would profit from an additional confidence estimation quantifying the quality of the digitally stained white blood cell. To this aim, during the staining generation, we disentangle the latent space of the Generative Adversarial Network, obtaining separate representation s of the white blood cell and the staining. We estimate the generated image’s confidence of white blood cell structure and staining quality by corrupting these representations with noise and quantifying the information retained between multiple outputs. We show that confidence estimated in this way correlates with image quality measured in terms of LPIPS values calculated for the generated and ground truth stained images. We validate our method by performing digital staining of images captured with a Differential Inference Contrast microscope on a dataset composed of white blood cells of 24 patients. The high absolute value of the correlation between our confidence score and LPIPS demonstrates the effectiveness of our method, opening the possibility of predicting the quality of generated output and ensuring trustworthiness in medical safety-critical setup.
Working memory gating in obesity: Insights from a case-control fMRI study

Computational models and neurophysiological data propose that a gating mechanism coordinates distractor-resistant maintenance and flexible updating of working memory contents: While maintenance of information is mainly implemented in the prefrontal cortex, updating of information is signaled by phasic increases in dopamine in the striatum. Previous literature demonstrates structural and functional alterations in these brain areas, as well as differential dopamine transmission among individuals with obesity, suggesting potential impairments in these processes. To test this hypothesis, we conducted an observational case-control fMRI study, dividing participants into groups with and without obesity based on their BMI. We probed maintenance and updating of working memory contents using a modified delayed match to sample task and investigated the effects of SNPs related to the dopaminergic system. While the task elicited the anticipated brain responses, our findings revealed no evidence for group differences in these two processes, neither at the neural level nor behaviorally. However, depending on Taq1A genotype, which affects dopamine receptor density in the striatum, participants with obesity performed worse on the task. In conclusion, this study does not support the existence of overall obesity-related differences in working memory gating. Instead, we propose that potentially subtle alterations may manifest specifically in individuals with a 'vulnerable' genotype.
Therapeutic Uses of Rituximab and Clinical Features in Immunoglobulin G4-Related Disease: A Systematic Review

This research presents a systematic review focusing on rituximab's therapeutic applications in immunoglobulin G4 (IgG4)-related disease (IgG4-RD), a rare condition characterized by immune-mediated systemic inflammation and tissue fibrosis, as well as the clinical features of IgG4-RD. While the disease commonly affects organs such as the bile ducts, lymph nodes, retroperitoneum, pancreas, and salivary glands, it can potentially involve other organs. This intricacy often leads to diagnostic challenges due to clinical overlaps with cancer, infections, and other autoimmune disorders. The diagnosis of IgG4-RD necessitates a comprehensive approach involving laboratory tests, imaging studies, and clinical assessments. Symptoms can vary, ranging from lymphadenopathy to jaundice, affecting multiple organs. Although elevated blood IgG4 levels and findings of tissue involvement and fibrosis on imaging can be suggestive, they lack the specificity for a definitive diagnosis. Early diagnosis is crucial for initiating corticosteroids and immunosuppressive to prevent further damage from IgG4-RD. This study highlights the therapeutic role of rituximab in managing this condition. Adhering to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) criteria, the research identifies and evaluates relevant literature across various electronic databases, including PubMed, ScienceDirect, and Google Scholar. This review includes 14 selected publications, comprising three systematic reviews, three observational studies, four narrative reviews, and four case reports. The study design ensures a comprehensive evaluation of rituximab's potential efficacy in treating IgG4-RD and its associated clinical characteristics. Based on this study, it can be concluded that IgG4-RD can potentially be treated with rituximab, particularly in cases of relapse and maintaining remission.
Comparative outcomes of direct-acting antiviral treatment in patients with HIV-Hepatitis C co-infection: insights from a single center experience in Colombia.

Background Direct-acting antivirals (DAA) were introduced to Latin America with the aim of eliminating hepatitis C (HCV) in the region. There are scarce data on the outcomes of people living with HIV and HCV treated with these medications in Colombia. This study compares the outcomes of patients with HIV-HCV co-infection and HCV mono-infection treated with DAAs. Methods Retrospective observational study including patients ≥18 years old with HCV infection treated with DAAs from August 2017 to December 2019 in a comprehensive center in Colombia. The main outcome was sustained virologic response (SVR). Secondary outcomes included reinfection, relapse and adverse events. Results We included 223 individuals with HCV treated with DAAs; 142 (63.6%) individuals were mono-infected and 81 (36.3%) co-infected. Genotypes 1b (49.7%) and 4 (33.9%) were the most common. Overall SVR after DAA treatment was 96.8%. Relapse rate was 2.24%, reinfection rate was 6.28% and adverse events occurred in 27.8% of cases. SVR was comparable in patients with co- and mono-infection (95% vs 97.8%, p=0.245). Conclusion DAA were effective in mono-infected (HCV) and co-infected (HCV/HIV) patients and reinfection was high in this last group.
Peripheral airway dysfunction in prematurity‐associated obstructive lung disease identified by oscillometry

Mechanisms underlying lung dysfunction after preterm birth are poorly understood. Studying phenotypes of prematurity‐associated lung disease may aid understanding of underlying mechanisms. Preterm‐born children with and without lung dysfunction and term controls were assessed using oscillometry before and after exercise, and after postexercise bronchodilation.
A single-center study evaluating the effect of the controlled adverse environment (CAE sm ) model on tear film stability

Purpose: To investigate use of an improved ocular tear film analysis protocol (OPI 2.0) in the Controlled Adverse Environment (CAE SM ) model of dry eye disease, and to examine the utility of new metrics in the identification of subpopulations of dry eye patients. Methods: Thirty-three dry eye subjects completed a single-center, single-visit, pilot CAE study. The primary endpoint was mean break-up area (MBA) as assessed by the OPI 2.0 system. Secondary endpoints included corneal fluorescein staining, tear film break-up time, and OPI 2.0 system measurements. Subjects were also asked to rate their ocular discomfort throughout the CAE. Dry eye endpoints were measured at baseline, immediately following a 90-minute CAE exposure, and again 30 minutes after exposure. Results: The post-CAE measurements of MBA showed a statistically significant decrease from the baseline measurements. The decrease was relatively specific to those patients with moderate to severe dry eye, as measured by baseline MBA. Secondary endpoints including palpebral fissure size, corneal staining, and redness, also showed significant changes when pre- and post-CAE measurements were compared. A correlation analysis identified specific associations between MBA, blink rate, and palpebral fissure size. Comparison of MBA responses allowed us to identify subpopulations of subjects who exhibited different compensatory mechanisms in response to CAE challenge. Of note, none of the measures of tear film break-up time showed statistically significant changes or correlations in pre-, versus post-CAE measures. Conclusion: This pilot study confirms that the tear film metric MBA can detect changes in the ocular surface induced by a CAE, and that these changes are correlated with other, established measures of dry eye disease. The observed decrease in MBA following CAE exposure demonstrates that compensatory mechanisms are initiated during the CAE exposure, and that this compensation may provide the means to identify and characterize clinically relevant subpopulations of dry eye patients. Key topics include: Optometry; Visual science; Pharmacology and drug therapy in eye diseases; Basic Sciences; Primary and Secondary eye care; Patient and Quality of Improvements.
COST AND UTILIZATION TRENDS OF ENDOMYOCARDIAL BIOPSY IN HEART TRANSPLANT PATIENTS: A 4-YEAR CLAIMS DATA ANALYSIS

Objective: This study evaluated patterns of utilization, complications, and costs of endomyocardial biopsies (EMB) in heart transplant patients. Methods: The IBM Treatment Pathways tool was used to analyze claims data selected from the IBM MarketScan de-identified, HIPAA-compliant dataset. Differences in EMB paid amounts and utilization patterns were assessed for commercial payers and Medicare for years 2016 to 2019. Type, frequency, and overall cost of complications of the EMB procedure in these patients were also evaluated. Results: A total of 8,170 records (6,385 commercial payers and 1,785 Medicare) of heart transplant patients with evidence of EMB procedures performed between 2016 and 2019 were identified in the database. In 2019, the median paid amount for an outpatient EMB in a heart transplant patient was US $7,918 (commercial) and US $2,980 (Medicare). Heart transplant patients received between 4.6 and 6.8 (median; Medicare, commercial) EMBs the first year after the transplant. Approximately 25% of EMB procedures were associated with complications. In 2019 the total cost of EMB complications per patient was US $9,049. Discussion: Analysis showed that the paid amount for the EMB procedure increased by almost 25% from 2016 to 2019 for commercial payers. Given the high frequency of complications after the EMB procedure and the associated cost of the complications it is estimated that the median paid amounts are closer to US $10,000 per patient per EMB. Given the number of EMBs provided, the associated risks, and the paid amount trends, non-invasive alternatives to EMB should be considered for the surveillance of heart transplant patients.
Nivolumab as maintenance therapy following platinum‐based chemotherapy in EGFR ‐mutant lung cancer patients after tyrosine kinase inhibitor failure: A single‐arm, open‐label, phase 2 trial

As the outcome of immunotherapy can be improved when concurrently or sequentially combined with cytotoxic chemotherapy or radiotherapy, we investigated the efficacy of immunotherapy maintenance following platinum‐based chemotherapy in epidermal growth factor receptor (EGFR)‐mutant non‐small cell lung cancer (NSCLC) after EGFR‐tyrosine kinase inhibitor (EGFR‐TKI) failure.
Ambulatory and home blood pressure monitoring for cardiovascular disease risk evaluation: a systematic review and meta-analysis of prospective cohort studies

Objective: The aim of this work was to systematically review the level of evidence based on prospective cohort studies investigating the role of 24-h ambulatory blood pressure measurement (ABPM) and home blood pressure measurement (HBPM) on cardiovascular disease (CVD) risk prediction. Methods: Eight studies were included in the meta-analysis. The Der Simonian and Laird's random-effects model with standard error adjustment using the Knapp-Hartung method was used. Results: SBP from ABPM and HBPM was significantly and positively associated with CVD risk [combined hazard ratio per 1-SD SBP, 95% confidence interval (95% CI): 1.32, 1.19–1.45, I2 = 35.8%, and 1.30, 95% CI: 1.11–1.49, I2 = 79.1%, respectively], after adjusting for office BP levels and other potential confounders. DBP from both ABPM and HBPM was positively associated with CVD risk (combined hazard ratio per 1-SD DBP, 95% CI: 1.15, 1.01–1.29, I2 = 73.1% and 1.21, 1.05–1.37, I2 = 84.5%, respectively). Conclusion: BP either from ABPM or HBPM could predict CVD risk. As so, at least one of out-of-office BP measurements have to be taken into account during the evaluation of the hypertensive population.
Yield of genetic association signals from genomes, exomes, and imputation in the UK biobank

Whole genome sequencing (WGS), whole exome sequencing (WES), and array genotyping with imputation (IMP) are common strategies for assessing genetic variation and its association with medically relevant phenotypes. To date there has been no systematic empirical assessment of the yield of these approaches when applied to 100,000s of samples to enable discovery of complex trait genetic signals. Using data for 100 complex traits in 149,195 individuals in the UK Biobank, we systematically compare the relative yield of these strategies in genetic association studies. We find that WGS and WES combined with arrays and imputation (WES+IMP) have the largest association yield. While WGS results in a ~5-fold increase in the total number of assayed variants over WES+IMP, the number of detected signals differed by only 1% for both single-variant and gene-based association analyses. Since WES+IMP typically results in savings of lab and computational time and resources expended per sample, we evaluate the potential benefits of applying WES+IMP to larger samples. When we extend our WES+IMP analyses to 468,169 UK Biobank individuals, we observe a ~4-fold increase in association signals with the ~3-fold increase in sample size. We conclude that prioritizing WES+IMP and large sample sizes, rather than current short-read WGS alternatives, will maximize the number of discoveries in genetic association studies.
Interaction between placental efflux transporters and use of antiseizure or antidepressant drugs during pregnancy on birth weight in the Norwegian Mother, Father and Child Cohort Study

Background: Intrauterine exposure to antiseizure and antidepressant drugs is associated with adverse pregnancy outcomes, including low birth weight. Gene variants in placental efflux transporter genes may alter foetal exposure to these drugs. Methods: We investigated whether genetic variants in placental efflux transporters modified the impact of maternal antiseizure and antidepressant drug use on offspring birth weight, using data from the Norwegian Mother, Father and Child Cohort Study and the Medical Birth Registry of Norway (69,828 offspring with their genotype data, 81,189 with maternal genotype data). We systematically searched for gene variants in placental efflux transporters influencing drug exposure [MDR1-ABCB1 (7 alleles), MRP1-ABCC1 (2), MRP2-ABCC2 (3) and, BCRP-ABCG2 (2)] and calculated genetic scores (sum of alleles potentially related to low transporter activity). We assessed the interaction between prenatal drug use and genetic scores on birth weight. Findings: Prenatal antiseizure medication exposure was associated with lower birth weight (-95.5 grams, 95% CI -190 to -0.78). This relationship depended on the offspring's MRP2-ABCC2 genetic score. Birth weight differences between exposed vs. unexposed were 70.3 g (95% CI -494 to 634) in the lowest genetic score category and -306 g (95% CI -361 to -31.8) in the highest (interaction p-value = 0.019; main variant: rs3740066). The antiseizure medication-lower birth weight association also depended on the maternal MDR1-ABCB1 genetic score. Birth weight differences between exposed vs. unexposed were -66.8 g (95% CI -225 to 91.2) in the lowest genetic score category and -317 g (95% CI -517 to -117) in the highest (interaction p-value = 0.037; main variants: rs10248420 and rs2235015). Prenatal antidepressant exposure was associated with low birth weight, but no gene-drug interactions were observed. Conclusions: MRP2-ABCC2 and MDR1-ABCB1 variants may influence prenatal antiseizure medication's impact on neonatal birth weight.
Survival Outcomes of Mohs Surgery versus Wide Local Excision for Less Common Nonmelanoma Skin Cancers: A Stabilized Inverse Probability of Treatment Weighting Analysis

Background: Compared with wide local excision (WLE), Mohs micrographic surgery (MMS) can not only remove the tumor tissue but also ensure a negative margin. However, there is limited evidence on whether there is a difference in prognosis between the two techniques for less common nonmelanoma skin cancers (NMSCs). Objectives: The aim of our study was to compare the survival outcomes of MMS and WLE for less common NMSCs. Methods: This study retrospectively analyzed data from the Surveillance, Epidemiology, and End Results dataset between 2003 and 2018. The less common NMSCs include Merkel cell carcinoma, skin appendage neoplasm, fibromatous malignancy, and other rare NMSCs. The stabilized inverse probability of treatment weighting (SIPTW) and the Kaplan-Meier methods were adopted to assess the overall survival (OS) and cancer-specific survival (CSS). Furthermore, the Cox proportional hazards, Fine-and-Gray regression analysis, and subgroup analysis models were applied to examine the effects of MMS versus WLE based on all-cause and cancer-specific mortality. Results: We identified 6,582 individuals with less common NMSCs for survival analysis, among which 1,946 patients (29.5%) had undergone MMS and 4,636 (70.5%) had received WLE. Diseases diagnosed in the most recent year, older age, the White race, married status, eyelid/face site, small tumor size, and localized disease were factors significantly associated with MMS treatment. Compared with the WLE group, the MMS group had comparable OS before and after the SIPTW analysis. Additionally, after adjusting for other confounding covariates, the surgery type (WLE vs. MMS) did not show significant associations with all-cause mortality (hazard ratio [HR]: 1.03, 95% confidence interval [CI]: 0.94–1.14, p = 0.517) and disease-specific mortality (HR: 1.16, 95% CI: 0.95–1.42, p = 0.134). Moreover, the subgroup analysis validated these findings. Conclusion: MMS and WLE have comparable OS and CSS for less common NMSCs.
Health and wellbeing among the empty nest and non-empty nest elderly in China—Results from a national cross-sectional study

Background The number of empty nest elderly in China has gradually increased in recent years. There is growing concern about the physical and mental health of this population as empty nest elderly are commonly at the risk of compromising health, home safety and quality of life. This study reported the health and well-being of empty nest elderly with regards to their health status, depression and satisfaction, lifestyle as compared to non-empty nest elderly in China. Methods Data was collected from the 2018 follow-up interviews of China Health and Retirement Longitudinal Survey. We included 4,630 empty nest elderly and 6,188 non-empty nest elderly. Chi-square Test and Logistic Regression were used to compare the differences between these two groups. Results As compared to the non-empty nest elderly, there was higher proportion of empty nest elderly who suffered from dyslipidemia, diabetes, chronic lung diseases, heart attack (27.0% vs. 25.0%; 16.6% vs. 15.1%; 19.4% vs. 16.4%; 26.3% vs. 23.4%, P < 0.05). The empty nest elderly had higher proportion of participants who drank more than once a month (25.3% vs. 23.9%, P < 0.05), who felt satisfied with their marriage (71.6% vs. 66.2%, P < 0.001), who were satisfied with their children’s relationship (85.2% vs. 83.2%, P < 0.001). However, these significances disappeared in the Logistic Regression analysis (P > 0.05). Conclusion Our study showed that significant between-group difference was found between empty nest elderly and non-empty nest elderly in their health and wellbeing. However, disappearance of such difference in the multivariable analysis may indicate improved health and wellbeing among the empty nest elderly. Even though our study still suggested the importance of improving the health, lifestyles and family dynamics of the elderly and promoting the integration of health and social care for the elderly, especially among the empty nest elderly.