tbuckley/cabot-search huggingface dataset:
FRI0472 DIAGNOSIS AND MANAGEMENT OF ADENOSINE DEAMINASE 2 DEFICIENCY CHILDREN: THE EXPERIENCE FROM CHINA
Authors: W. Wang, T. Zhang, L. Wang, H. Song
Journal: Annals of the Rheumatic Diseases (2020)

Background: Adenosine deaminase 2 deficiency (DADA2) is a rare antoinflammatory disease caused by mutations in ADA2 gene, few Chinese cases have been reported. Objectives: To describe and compare the clinical features, genotypes, and treatments of Chinese DADA2 patients and foreign cases. Methods: Primary immunodeficiency disease Panel or Whole Exome Sequencing was performed to suspected subjects, and assays for adenosine deaminase 2(ADA2) enzyme activity were also carried out to them and their parents. Case reports of Chinese and foreign patients with DADA2 were searched from PubMed and Chinese domestic databases. Results: Seven unrelated DADA2 children from China were included in our study, 5 were identified at Peking union medical college hospital and 2 had been reported previously (1 on PubMed and 1 in Chinese literatures). 14 mutations in ADA2 were identified, and 9 of which have not been found in other countries. Four children receiving enzymatic analysis had lower ADA2 enzyme activity compared to their parents. Phenotypic manifestations included fever, skin symptoms, vasculitis, neurologic involvement, et al. The treatments varying from steroids, immunosuppressants, and tocilizumab, anti-TNF therapy and hematopoietic stem cell transplantation (HSCT) were effective depending on different phenotype and severity. Conclusion: This study includes the biggest number of Chinese DADA2 patients at present. We recommend combination of enzymatic analysis with gene screening to confirm the diagnosis. Genotypes of patients from China were some different, the clinical manifestations were similar. We suggest anti-TNF therapy may not be necessary for mild case and HSCT should be considered even without hematological phenotype. References: [1]Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014;370:911-920. [2]Meyts I, Aksentijevich I. Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment. J Clin Immunol. 2018;38:569-578. [3]Wang XN, Zhou ZX, Li SN, Lai JM, Su GX, Kang M, et al. A case report of DADA2. Chin J Rheumatol. 2019;23:476-478. [4]Liu L, Wang W, Wang Y, Hou J, Ying W, Hui X, et al. A Chinese DADA2 patient: report of two novel mutations and successful HSCT. Immunogenetics. 2019;71:299-305. Disclosure of Interests: None declared
TCT CONNECT-472 Procedural Mortality With Transcatheter Aortic Valve Implantation—Balloon Dilatation Carries Significant Risk
Authors: Sandeep Arunothayaraj, James Cockburn, Kristoffer Vincent Tanseco, Jim Newton, Adrian Banning, James Cotton, Saib Khogali, Peter Ludman, Chris Malkin, Robert Whitbourn, Sonny Palmer, Rajesh Kharbanda, David Hildick-Smith
Journal: Journal of the American College of Cardiology (2020)
Enhancing the Long‐Term Stability of a Polymer Dot Glucose Transducer by Using an Enzymatic Cascade Reaction System
Authors: Kai Sun, Zhaoyang Ding, Jicheng Zhang, Haobin Chen, Yuling Qin, Shihan Xu, Changfeng Wu, Jiangbo Yu, Daniel T. Chiu
Journal: Advanced Healthcare Materials (2020)

Abstract Impaired glucose metabolism in diabetes causes severe acute and long‐term complications, making real‐time detection of blood glucose indispensable for diabetic patients. Existing continuous glucose monitoring systems are unsuitable for long‐term clinical glycemic management due to poor long‐term stability. Polymer dot (Pdot) glucose transducers are implantable optical nanosensors that exhibit excellent brightness, sensitivity, selectivity, and biocompatibility. Here, it is shown that hydrogen peroxide—a product of glucose oxidation in Pdot glucose sensors—degrades sensor performance via photobleaching, reduces glucose oxidase activity, and generates cytotoxicity. By adding catalase to a glucose oxidase‐based Pdot sensor to create an enzymatic cascade, the hydrogen peroxide product of glucose oxidation is rapidly decomposed by catalase, preventing its accumulation and improving the sensor's photostability, enzymatic activity, and biocompatibility. Thus, a next‐generation Pdot glucose transducer with a multienzyme reaction system (Pdot–GOx/CAT) that provides excellent sensing characteristics as well as greater detection system stability is presented. Pdot glucose transducers that incorporate this enzymatic cascade to eliminate hydrogen peroxide will possess greater long‐term stability for improved continuous glucose monitoring in diabetic patients.
Nanomotor-based adsorbent for blood Lead(II) removal in vitro and in pig models
Authors: Meng Wang, Tianyi Bao, Wenqiang Yan, Dan Fang, Yueqi Yu, Zhiyong Liu, Guoyong Yin, Mimi Wan, Chun Mao, Dongquan Shi
Journal: Bioactive Materials (2020)

Blood lead (Pb(II)) removal is very important but challenging. The main difficulty of blood Pb(II) removal currently lies in the fact that blood Pb(II) is mainly complexed with hemoglobin (Hb) inside the red blood cells (RBCs). Traditional blood Pb(II) removers are mostly passive particles that do not have the motion ability, thus the efficiency of the contact between the adsorbent and the Pb(II)-contaminated Hb is relatively low. Herein, a kind of magnetic nanomotor adsorbent with movement ability under alternating magnetic field based on Fe3O4 nanoparticle modified with meso-2, 3-dimercaptosuccinic acid (DMSA) was prepared and a blood Pb(II) removal strategy was further proposed. During the removal process, the nanomotor adsorbent can enter the RBCs, then the contact probability between the nanomotor adsorbent and the Pb(II)-contaminated Hb can be increased by the active movement of nanomotor. Through the strong coordination of functional groups in DMSA, the nanomotor adsorbent can adsorb Pb(II), and finally be separated from blood by permanent magnetic field. The in vivo extracorporeal blood circulation experiment verifies the ability of the adsorbent to remove blood Pb(II) in pig models, which may provide innovative ideas for blood heavy metal removal in the future.
Abstract 11655: The Telomerase Plays a Pivotal Role in Collateral Development Under Ischemia by Suppressing Aging-Induced Production of Oxidative Stress, Expression of p53 and Pro-Apoptotic Proteins
Authors: Tomoki Kokubun, Shu-ichi Saitoh, Shunsuke Miura, Takafumi Ishida, Yasuchika Takeishi
Journal: Circulation (2018)

Backgrounds: Aging is a major risk factor for impairment of collateral growth under ischemia, but the contribution of telomerase activity, which is mainly regulated by telomerase reverse transcript...
Fusion of medical imaging and electronic health records using deep learning: a systematic review and implementation guidelines
Authors: Shih-Cheng Huang, Anuj Pareek, Saeed Seyyedi, Imon Banerjee, Matthew P. Lungren
Journal: npj Digital Medicine (2020)

Abstract Advancements in deep learning techniques carry the potential to make significant contributions to healthcare, particularly in fields that utilize medical imaging for diagnosis, prognosis, and treatment decisions. The current state-of-the-art deep learning models for radiology applications consider only pixel-value information without data informing clinical context. Yet in practice, pertinent and accurate non-imaging data based on the clinical history and laboratory data enable physicians to interpret imaging findings in the appropriate clinical context, leading to a higher diagnostic accuracy, informative clinical decision making, and improved patient outcomes. To achieve a similar goal using deep learning, medical imaging pixel-based models must also achieve the capability to process contextual data from electronic health records (EHR) in addition to pixel data. In this paper, we describe different data fusion techniques that can be applied to combine medical imaging with EHR, and systematically review medical data fusion literature published between 2012 and 2020. We conducted a systematic search on PubMed and Scopus for original research articles leveraging deep learning for fusion of multimodality data. In total, we screened 985 studies and extracted data from 17 papers. By means of this systematic review, we present current knowledge, summarize important results and provide implementation guidelines to serve as a reference for researchers interested in the application of multimodal fusion in medical imaging.
Abstract 16861: History of Atrial Fibrillation in a First-degree Relative and Risk of Cardiovascular Events
Authors: Daniele Pastori, Pasquale Pignatelli, Tommasa Vicario, Danilo Menichelli, Francesco Perticone, Angela Sciacqua, Francesco Violi
Journal: Circulation (2016)

Introduction: Familial atrial fibrillation (AF) has been shown to be a risk factor for new-onset AF. The association between familial AF and cardiovascular events (CVEs) in a large cohort of AF pat...
Bone morphogenetic protein signaling regulates skin inflammation via modulating dendritic cell function
Authors: Tommaso Sconocchia, Mathias Hochgerner, Elke Schwarzenberger, Carmen Tam-Amersdorfer, Izabela Borek, Theresa Benezeder, Thomas Bauer, Victoria Zyulina, Clemens Painsi, Christina Passegger, Peter Wolf, Maria Sibilia, Herbert Strobl
Journal: Journal of Allergy and Clinical Immunology (2020)

Bone morphogenetic proteins (BMPs) are members of the TGF-β family that signal via the BMP receptor (BMPR) signaling cascade, distinct from canonical TGF-β signaling. BMP downstream signaling is strongly induced within epidermal keratinocytes in cutaneous psoriatic lesions, and BMP7 instructs monocytic cells to acquire characteristics of psoriasis-associated Langerhans dendritic cells (DCs). Regulatory T (Treg)-cell numbers strongly increase during psoriatic skin inflammation and were recently shown to limit psoriatic skin inflammation. However, the factors mediating Treg-cell accumulation in psoriatic skin currently remain unknown.
THU0162 Bone involvement in gaucher disease
Authors: ME Bahri, S Othmani, F Msaddek, B Louzir, MO Bahri
Journal: Annals of the Rheumatic Diseases (2001)

<h3>Background</h3> <h3>Objectives</h3> <h3>Methods</h3> Gaucher disease (GD) is an autosomal disorder of glycosphingolipid metabolism due to deficiency of the lysosomal acid glucocerebrosidase. Although prevalent among Ashkenazi jews, it has been described in all other ethnic groups. Bone lesions are associated with type 1 and type 3 GD. They are secondary to the progressive accumulation of histiocytes and macrophages laden with glucosylceramide in bone marrow. Expression of skeletal involvement in Gaucher patients ranges from asymptomatic disease, with or without radiologic signs, to symptomatic disease, which can be severe and engender considerable pain and disability. MRI appears to be the most valuable imaging technique for evaluating bone marrow involvement. Splenectomy is suggested to accelerate skeletal deterioration. Our patient was a 23-year old man type 1 GD who was admitted for evaluation of hepatosplenomegaly and thrombocytopenia. He also complained of episodic joint involving both knees, shoulders, wrists and elbows lasting 2 – 5 days that started a year before admission. The pain was defined as non specific pain. Clinical examination yielded local tenderness. Hepatosplenomegaly was confirmed by abdominal CT scan. Biology revealed an hypersplenism (anaemia, thrombocytopenia) and polyclonal hypergammaglobulinemia. X ray of femurs and humerus showed a metaphysal multicystic osseous changes with endosteal cortical erosions. X ray of pelvis showed an osteosclerosis of iliac bones, lytic process of pubis symphysis and pathological fracture of both ischiopubian bones. MRI showed medullar bone infiltration in femurs, pelvis and humerus. 99mTc bone scan was normal. On liver as well as on bone marrow biopsy examination, Gaucher's cell infiltrates were detected. The level of leukocyte acid beta-glucosidase activity was very low. Hypersplenism was the indication for splenectomy. The weight of the resected spleen was 1950 gr; Following surgery, the patient noted an exacerbation of major joint pain and bone pain involving both femurs and humerus which improve after one week of non steroidal anti-inflammatory drugs. Hypersplenism (thrombocytopenia in particular) was improved. Hepatomegaly without evidence of hepatic dysfunction persisted. Enzyme replacement therapy wasn't available. <h3>Results</h3> <h3>Conclusion</h3>
Heritable Retinoblastoma and Risk of Developing Second Primary Cancer
Authors: Haran Ratna
Journal: JAMA Network Open (2020)

Pernille A. Gregersen, MD; Maja H. Olsen, MSc; Steen F. Urbak, MD, PhD; Mikkel Funding, MD, PhD; Susanne O. Dalton, MD, PhD; Jens Overgaard, MD, DMSc; Jan Alsner, PhD
Worldwide variation in the relative importance of hepatitis B and hepatitis C viruses in hepatocellular carcinoma: A systematic review
Authors: Syed Raza, Gary Clifford, Silvia Franceschi
Journal: Cancer Research (2007)

1738  Large heterogeneity exists in the relative importance of hepatitis B virus (HBV) and hepatitis C virus (HCV) in hepatocellular carcinoma (HCC) aetiology worldwide, but the evidence has never been compiled systematically for the entire globe. Methods Case-series or case-control studies of HCC reporting prevalence of hepatitis B surface antigen (HBsAg) and antibodies against HCV (anti-HCV, excluding first-generation assays), both alone and in combination, for at least 20 HCC cases were identified. Prevalence estimates were calculated separately for countries with information on at least 150 HCC cases, or were combined for lesser studied countries from the same continent. Findings A total of 28,292 HCC cases from 36 countries met the inclusion criteria. A predominance of HBsAg over anti-HCV seropositivity was found in HCC cases from most Asian, African and Latin American countries, but anti-HCV seropositivity predominated in Japan, Pakistan, Mongolia, and Egypt. In China anti-HCV was found more often in combination with HBsAg than alone. A clear predominance of anti-HCV over HBsAg seropositivity was seen in Europe and the United States. More than half of HCC cases in Sweden and the United States were negative for both markers. Interpretation Our findings suggest that in the last two decades HCV has caused more HCC cases than HBV in developed countries, but it has also contributed substantially to the HCC burden in some developing countries in Asia, where the fraction of HCC attributable to HCV may be on the rise.
COVID-19 in a Correctional Facility Employee Following Multiple Brief Exposures to Persons with COVID-19 — Vermont, July–August 2020
Authors: Julia C. Pringle, Jillian Leikauskas, Sue Ransom-Kelley, Benjamin Webster, Samuel Santos, Heidi Fox, Shannon Marcoux, Patsy Kelso, Natalie Kwit
Journal: MMWR Morbidity and Mortality Weekly Report (2020)

On August 11, 2020, a confirmed case of coronavirus disease 2019 (COVID-19) in a male correctional facility employee (correctional officer) aged 20 years was reported to the Vermont Department of Health (VDH). On July 28, the correctional officer had multiple brief encounters with six incarcerated or detained persons (IDPs)* while their SARS-CoV-2 test results were pending. The six asymptomatic IDPs arrived from an out-of-state correctional facility on July 28 and were housed in a quarantine unit. In accordance with Vermont Department of Corrections (VDOC) policy for state prisons, nasopharyngeal swabs were collected from the six IDPs on their arrival date and tested for SARS-CoV-2, the virus that causes COVID-19, at the Vermont Department of Health Laboratory, using real-time reverse transcription-polymerase chain reaction (RT-PCR). On July 29, all six IDPs received positive test results. VDH and VDOC conducted a contact tracing investigation† and used video surveillance footage to determine that the correctional officer did not meet VDH's definition of close contact (i.e., being within 6 feet of infectious persons for ≥15 consecutive minutes)§,¶; therefore, he continued to work. At the end of his shift on August 4, he experienced loss of smell and taste, myalgia, runny nose, cough, shortness of breath, headache, loss of appetite, and gastrointestinal symptoms; beginning August 5, he stayed home from work. An August 5 nasopharyngeal specimen tested for SARS-CoV-2 by real-time RT-PCR at a commercial laboratory was reported as positive on August 11; the correctional officer identified two contacts outside of work, neither of whom developed COVID-19. On July 28, seven days preceding his illness onset, the correctional officer had multiple brief exposures to six IDPs who later tested positive for SARS-CoV-2; available data suggests that at least one of the asymptomatic IDPs transmitted SARS-CoV-2 during these brief encounters.
TCT CONNECT-464 Risk of Coronary Obstruction Due to Sinus Sequestration in Repeat Transcatheter Aortic Valve Replacement
Authors: Tomoki Ochiai, Luke Oakley, Ikki Komatsu, Nir Flint, Danon Kaewkes, Sung-Han Yoon, Matthias Raschpichler, Vivek Patel, Yusuke Enta, Sahar Mahani, Yisik Kim, Tarun Chakravarty, Mamoo Nakamura, Wen Cheng, Raj Makkar
Journal: Journal of the American College of Cardiology (2020)
The Current Landscape of Immune Checkpoint Blockade in Hepatocellular Carcinoma
Authors: Matthias Pinter, Rakesh K. Jain, Dan G. Duda
Journal: JAMA Oncology (2020)

For more than a decade, sorafenib has been the only systemic treatment option for patients with advanced hepatocellular carcinoma (HCC). However, rapid progress over the past few years led to approval of other angiogenesis inhibitors and several immune checkpoint blockers (ICBs) that have been added to the treatment armamentarium for advanced HCC. Moreover, the recent success of a combination of bevacizumab with atezolizumab signals an important change in the front-line treatment of HCC.This review summarizes rapidly emerging clinical data on the promise and challenges of implementing ICBs in HCC and discusses the unmet need of biomarkers to predict response or resistance to therapy. Two strategies to target immunosuppression in tumors are also discussed: one proven (vascular endothelial growth factor pathway inhibition) and one currently under investigation (transforming growth factor-β pathway inhibition). The rationale and preliminary evidence on how their inhibition may reprogram the immunosuppressive milieu and enhance the efficacy of ICBs in HCC are reviewed.The recent successes and failures of angiogenesis inhibitors and ICBs, alone and in combination, have provided important insights into how to implement this novel systemic therapy in HCC and led to new avenues to enhance immunotherapy efficacy in this disease.
3D Bioprinting of Lignocellulosic Biomaterials
Authors: Amin Shavandi, Soraya Hosseini, Oseweuba Valentine Okoro, Lei Nie, Farahnaz Eghbali Babadi, Ferry Melchels
Journal: Advanced Healthcare Materials (2020)

Abstract The interest in bioprinting of sustainable biomaterials is rapidly growing, and lignocellulosic biomaterials have a unique role in this development. Lignocellulosic materials are biocompatible and possess tunable mechanical properties, and therefore promising for use in the field of 3D‐printed biomaterials. This review aims to spotlight the recent progress on the application of different lignocellulosic materials (cellulose, hemicellulose, and lignin) from various sources (wood, bacteria, and fungi) in different forms (including nanocrystals and nanofibers in 3D bioprinting). Their crystallinity, leading to water insolubility and the presence of suspended nanostructures, makes these polymers stand out among hydrogel‐forming biomaterials. These unique structures give rise to favorable properties such as high ink viscosity and strength and toughness of the final hydrogel, even when used at low concentrations. In this review, the application of lignocellulosic polymers with other components in inks is reported for 3D bioprinting and identified supercritical CO 2 as a potential sterilization method for 3D‐printed cellulosic materials. This review also focuses on the areas of potential development by highlighting the opportunities and unmet challenges such as the need for standardization of the production, biocompatibility, and biodegradability of the cellulosic materials that underscore the direction of future research into the 3D biofabrication of cellulose‐based biomaterials.
Seropositive Prevalence of Antibodies Against SARS-CoV-2 in Wuhan, China
Authors: Anding Liu, Ying Li, Zhengce Wan, Wenjie Wang, Xiaomei Lei, Yongman Lv
Journal: JAMA Network Open (2020)

This cross-sectional study examines the seropositive prevalence of antibodies against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in Wuhan, China, by sex and age group.
Association of Discharge to Home vs Institutional Postacute Care With Outcomes After Lower Extremity Joint Replacement
Authors: Robert E. Burke, Anne Canamucio, Elina Medvedeva, Eric L. Hume, Amol S. Navathe
Journal: JAMA Network Open (2020)

<h3>Importance</h3> Changes in financial incentives have led to more patients being discharged home than to institutional forms of postacute care, such as skilled nursing facilities (SNFs), after elective lower extremity total joint replacement (LEJR). <h3>Objective</h3> To evaluate the association of this change with hospital readmissions, surgical complications, and mortality. <h3>Design, Setting, and Participants</h3> This cohort study used cross-temporal propensity-matching to identify 104 828 adult patients who were discharged home following LEJR between 2016 and 2018 (after changes in financial incentives) and 84 121 adult patients discharged to institutional forms of postacute care (eg, SNFs) between 2011 and 2013 (before changes in financial incentives). A difference-in-differences design was used to compare differences in outcomes between these groups to a propensity-matched group of patients discharged to institutional postacute care in both periods. Data were collected from Pennsylvania all-payer claims database, which includes all surgical procedures and hospitalizations across payers and hospitals in Pennsylvania. Data were analyzed between August 2019 and February 2020. <h3>Exposures</h3> Type of postacute care (home, including home with home health vs institutional postacute care, including SNF, inpatient rehabilitation facilities, and long-term acute care hospitals). <h3>Main Outcomes and Measures</h3> Main outcomes were 30- and 90-day hospital readmissions, LEJR complication rates, and mortality rates. <h3>Results</h3> Of 189 949 patients, 113 981 (60.0%) were women, and 83 444 (43.9%) were aged 40 to 64 years. The rate of discharge home increased from 63.6% (54 097 of 85 121) in 2011 to 2013 to 78.4% (82 199 of 104 828) in 2016 to 2018. In the adjusted difference-in-differences comparison, matched patients discharged home in 2016 to 2018 had significantly lower 30-day (difference, −2.9%; 95% CI, −4.2% to −1.6%) and 90-day (difference, −3.9%; 95% CI, −5.8% to −2.0%) readmission rates compared with similar patients sent to institutional postacute care in 2011 to 2013. Surgical complication and mortality rates were unchanged. Results were similar across payers and across hospital bundled payment participation status. <h3>Conclusions and Relevance</h3> In this cohort study, increases in discharges home following LEJR surgery did not seem to be associated with increased harm during a period in which changes in financial incentives likely spurred observed changes in postacute care.
Characterisation of Naive Immunological Profile of Umbilical Cord Blood: The Role of Mucosal-Associated Invariant T Cells and Functional Defects of T Cells and Natural Killer Cells
Authors: Anthony M McElligott, Eamon P Breen, Ruth Cleary, Sarah Brophy, Fiona McCarthy, Emma Heffernan, Vincent O'Mahony, Nicola Gardiner, Derek G Doherty, Bridgette Byrne, Paul V Browne, Catherine M Flynn
Journal: Blood (2017)