Abstract Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with progressive neurological decline and multisystem involvement requires a multidisciplinary team with experience in the management of neurodegenerative disorders. Best practice guidelines for the clinical management of patients with these types of rare disorders are critical to ensure prompt diagnosis and initiation of appropriate care. However, there are no...

Abstract Purpose To inform updated recommendations by the Canadian Task Force on Preventive Health Care on screening for prostate cancer in adults aged 18 years and older in primary care. This protocol outlines the planned scope and methods for a series of systematic reviews. Methods Updates of two systematic reviews and a de novo review will be conducted to synthesize the evidence on the benefits and harms of screening for prostate cancer with a prostate-specific...

Abstract Background Oxidative stress is a highly active metabolic process in the liver, that poses great threats to disseminated tumor cells during their colonization. Here, we aimed to investigate how colorectal cancer (CRC) cells overcome lipid peroxidation to sustain their metastatic colonization in the liver. Methods Orthotopic colorectal liver metastasis (CRLM) and CRC liver colonization mouse models were constructed to determine the roles of lipid peroxidation and AADAC in CRC liver colonization. The levels of...

The inaugural IndoUSrare Annual Conference was held virtually from 29 November to 2 December 2021 and was organized by the Indo US Organization for Rare Diseases (IndoUSrare). The event saw participation from over 250 stakeholders of rare diseases who joined in virtually by audio/video on the Zoom platform from around the world, with a majority of attendees concentrated in the Indian subcontinent and the United States. The conference was held over 4 days from 10:00...

Macronaria is a clade of gigantic body-sized sauropod dinosaurs widely distributed from the Late Jurassic to the Late Cretaceous globally. However, its origin, early diversification, and dispersal are still controversial. Here, we report a new macronarian Yuzhoulong qurenensis gen. et sp. nov. excavated from the Middle Jurassic (Bathonian) Lower Shaximiao Formation. Yuzhoulong qurenensis bears a unique combination of features, such as two accessory fossae that exist on the posterior surface of dorsal diapophyses of anterior...

Abstract Background Health and social inequality are associated with multiple adverse childhood experiences including poverty, mental illness, and child maltreatment. While effective interventions currently exist for many health and social problems, large segments of the population experience barriers accessing needed services. In alignment with broader public health efforts to reduce health and social inequality in one state in the U.S.A., the current study describes the development and formative evaluation of a brief, low cost, portable...

Abstract Background Metagenomic data can be used to profile high-importance genes within microbiomes. However, current metagenomic workflows produce data that suffer from low sensitivity and an inability to accurately reconstruct partial or full genomes, particularly those in low abundance. These limitations preclude colocalization analysis, i.e., characterizing the genomic context of genes and functions within a metagenomic sample. Genomic context is especially crucial for functions associated with horizontal gene transfer (HGT) via mobile genetic elements (MGEs),...

Photoacoustic imaging (PAI) was performed to evaluate oxygen saturation (sO₂) of blood-mimicking phantoms, femoral arteries in beagles, and radial arteries in humans at various sO₂ plateaus. The accuracy (root mean square error) of PAI sO₂ compared with reference sO₂ was calculated. In blood-mimicking phantoms, PAI achieved an accuracy of 1.49% and a mean absolute error (MAE) of 1.09% within 25 mm depth, and good linearity (R = 0.968; p < 0.001) was obtained between PAI...

Abstract Background We examined the association of non-cigarette tobacco use on chronic obstructive pulmonary disease (COPD) risk in the Population Assessment of Tobacco and Health (PATH) Study. Methods There were 13,752 participants ≥ 40 years with Wave 1 (W1) data for prevalence analyses, including 6945 adults without COPD for incidence analyses; W1–5 (2013–2019) data were analyzed. W1 tobacco use was modeled as 12 mutually-exclusive categories of past 30-day (P30D) single and polyuse, with two reference...

Abstract Background To date, there are no effective treatments for most neurodegenerative diseases. Knowledge graphs can provide comprehensive and semantic representation for heterogeneous data, and have been successfully leveraged in many biomedical applications including drug repurposing. Our objective is to construct a knowledge graph from literature to study the relations between Alzheimer’s disease (AD) and chemicals, drugs and dietary supplements in order to identify opportunities to prevent or delay neurodegenerative progression. We collected biomedical annotations...

Photoacoustic imaging (PAI) was performed to evaluate oxygen saturation (sO₂) of blood-mimicking phantoms, femoral arteries in beagles, and radial arteries in humans at various sO₂ plateaus. The accuracy (root mean square error) of PAI sO₂ compared with reference sO₂ was calculated. In blood-mimicking phantoms, PAI achieved an accuracy of 1.49% and a mean absolute error (MAE) of 1.09% within 25 mm depth, and good linearity (R = 0.968; p < 0.001) was obtained between PAI...

Abstract Background Traditional observational studies have shown an inverse association between body mass index (BMI) and lung cancer risk. Mendelian randomization (MR) analysis using genetic variants as instruments for BMI may clarify the nature of the association. Aims We studied the causal association between BMI and lung cancer incidence using observational and MR approaches. Methods We followed up 62,453 cancer-free Norwegian adults from 1995–97 (HUNT2) until 2017. BMI at baseline in HUNT2 was classified as...

Abstract Background Many plant species exhibit genetic variation for coping with environmental stress. However, there are still limited approaches to effectively uncover the genomic region that regulates distinct responsive patterns of the gene across multiple varieties within the same species under abiotic stress. Results By analyzing the transcriptomes of more than 100 maize inbreds, we reveal many cis- and trans-acting eQTLs that influence the expression response to heat stress. The cis-acting eQTLs in response to...

Abstract Background Cox proportional hazards regression models and machine learning models are widely used for predicting the risk of dementia. Existing comparisons of these models have mostly been based on empirical datasets and have yielded mixed results. This study examines the accuracy of various machine learning and of the Cox regression models for predicting time-to-event outcomes using Monte Carlo simulation in people with mild cognitive impairment (MCI). Methods The predictive accuracy of nine time-to-event regression...

At present, the traction force and traction speed of the drilling robot cannot be controlled. However, if the speed of the drilling robot is too high, the bit will be damaged because of the shock load. If the speed of the drilling robot is too low, the drilling efficiency will be very low. The existing control system and control algorithm of the drilling robot cannot meet the requirements of the drilling conditions. A control system...

ObjectiveTo establish a predictive model for poor prognosis after incomplete revascularization (ICR) in patients with multivessel coronary artery disease (MVD).MethodsClinical data of 757 patients with MVD and ICR after percutaneous coronary intervention (PCI) in the Affiliated Hospital of Chengde Medical University from January 2020 to August 2021 were retrospectively collected. The least absolute shrinkage and selection operator regression method was used to screen variables, and multivariate logistic regression was used to establish a predictive model....

Abstract Background Artificial intelligence (AI) algorithms are capable of automatically detecting contouring boundaries in medical images. However, the algorithms impact on clinical practice of cervical cancer are unclear. We aimed to develop an AI-assisted system for automatic contouring of the clinical target volume (CTV) and organs-at-risk (OARs) in cervical cancer radiotherapy and conduct clinical-based observations. Methods We first retrospectively collected data of 203 patients with cervical cancer from West China Hospital. The proposed method named...

Abstract What is already known about this topic? Epidermolysis bullosa (EB) causes blistering and scarring of the hands resulting in contractures fused web spaces and altered function. Surgery is needed to release contractures and web spaces and hand therapy is essential to maintain results, approaches for both differ. What does this study add? These guidelines aim to provide information on the surgical and conservative therapeutic hand management of children and adults diagnosed with EB. They...

Abstract No fully validated risk-stratification strategies have been established in China where colonoscopies resources are limited. We aimed to develop and validate a fecal immunochemical test (FIT)-based risk-stratification model for colorectal neoplasia (CN); 10,164 individuals were recruited from 175 centers nationwide and were randomly allocated to the derivation (n = 6776) or validation cohort (n = 3388). Multivariate logistic analyses were performed to develop the National Colorectal Polyp Care (NCPC) score, which formed the risk-stratification...

Previous research has documented that political information in the mass media can shape attitudes and behaviors beyond voter choice and election turnout. The current study extends this body of work to examine associations between televised political campaign advertising (one of the most common forms of political communication people encounter) and worry about crime and violence in the context of the 2016 U.S. presidential election. We merge two large datasets—Kantar/CMAG data on televised campaign advertisement airings...

Abstract Metastasis and chemical resistance are the most serious problems in the treatment of highly aggressive uveal melanoma (UM). The newly identified lncRNA OUM1 is overexpressed in UM, functions as a catalyst and regulates protein tyrosine phosphatase (PTP) activity by binding to PTP receptor type Z1 (PTPRZ1), which plays an important role in cell proliferation, metastasis and chemotherapy resistance in the UM microenvironment. Hence, siRNAs that selectively knocking down the lncRNA OUM1 (siOUM1) and its...

IntroductionNodular skin lesions in patients with acute myeloid leukemia (AML) raise clinical suspicion for leukemia cutis versus fungal infections. Here, we report a rare case of treatment-related erythema nodosum (EN) in a patient with AML.Case ReportApproximately 5 weeks after the initiation of sorafenib and one week after azacitidine initiation, a 32-year-old man with primary refractory AML presented with several painful red nodules on the lower extremities. Histological examination established a diagnosis of EN.Management and OutcomeTreatment...

Objectives: The complexity and specificity of lung tumor motion render it necessary to determine the external and internal correlation individually before applying indirect tumor tracking. However, the correlation cannot be determined from patient respiratory and tumor clinical characteristics before treatment. The purpose of this study is to present a machine learning model for an external/internal correlation prediction that is based on computed tomography (CT) radiomic features. Methods: 4-dimensional computed tomography (4DCT) images of 67 patients...

To investigate how differences in income and education levels may contribute to disparities in incidence of Alzheimer’s disease and related dementia (ADRD), we compared ADRD incidence in traditional Medicare claims for 11,132 Black and 7703 White participants aged 65 and over from a predominantly low-income cohort. We examined whether the relationship between ADRD incidence and race varied by income or education. Based on 2015 incident ADRD diagnoses, Black and White participants had unadjusted incidence rates...

Abstract Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with progressive neurological decline and multisystem involvement requires a multidisciplinary team with experience in the management of neurodegenerative disorders. Best practice guidelines for the clinical management of patients with these types of rare disorders are critical to ensure prompt diagnosis and initiation of appropriate care. However, there are no...