tbuckley/cabot-search huggingface dataset:
Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients
Authors: Roberta Marra, Antonella Nostroso, Barbara Eleni Rosato, Federica Maria Esposito, Vanessa D'Onofrio, Anthony Iscaro, Antonella Gambale, Barbara Bruschi, Paola Coccia, Antonella Poloni, Sule Unal, Alberto Romano, Achille Iolascon, Immacolata Andolfo, Roberta Russo
Journal: American Journal of Hematology (2024)

Abstract Congenital Dyserythropoietic Anemia type I (CDA I) is a rare hereditary condition characterized by macrocytic/normocytic anemia, splenomegaly, iron overload, and distinct abnormalities during late erythropoiesis, particularly internuclear bridges between erythroblasts. Diagnosis of CDA I remains challenging due to its rarity, clinical heterogeneity, and overlapping phenotype with other rare hereditary anemias. In this case series, we present 36 patients with suspected CDA I. A molecular diagnosis was successfully established in 89% of cases, identifying 16 patients with CDA I through the presence of 18 causative variants in the CDAN1 or CDIN1 genes. Transcriptomic analysis of CDIN1 variants revealed impaired erythroid differentiation and disruptions in transcription, cell proliferation, and histone regulation. Conversely, 16 individuals received a different diagnosis, primarily pyruvate kinase deficiency. Comparisons between CDA I and non‐CDA I patients revealed no significant differences in erythroblast morphological features. However, hemoglobin levels and red blood cell count differed between the two groups, with non‐CDA I subjects being more severely affected. Notably, most patients with severe anemia belonged to the non‐CDA I group (82% non‐CDA I vs. 18% CDA I), with a subsequent absolute prevalence of transfusion dependency among non‐CDA I patients (100% vs. 41.7%). All patients exhibited reduced bone marrow responsiveness to anemia, with a more pronounced effect observed in non‐CDA I patients. Erythropoietin levels were significantly higher in non‐CDA I patients compared to CDA I patients. However, evaluations of erythroferrone, soluble transferrin receptor, and hepcidin revealed no significant differences in plasma concentration between the two groups.
Levels of autonomy in FDA-cleared surgical robots: a systematic review
Authors: Audrey Lee, Turner S. Baker, Joshua B. Bederson, Benjamin I. Rapoport
Journal: npj Digital Medicine (2024)

The integration of robotics in surgery has increased over the past decade, and advances in the autonomous capabilities of surgical robots have paralleled that of assistive and industrial robots. However, classification and regulatory frameworks have not kept pace with the increasing autonomy of surgical robots. There is a need to modernize our classification to understand technological trends and prepare to regulate and streamline surgical practice around these robotic systems. We present a systematic review of all surgical robots cleared by the United States Food and Drug Administration (FDA) from 2015 to 2023, utilizing a classification system that we call Levels of Autonomy in Surgical Robotics (LASR) to categorize each robot's decision-making and action-taking abilities from Level 1 (Robot Assistance) to Level 5 (Full Autonomy). We searched the 510(k), De Novo, and AccessGUDID databases in December 2023 and included all medical devices fitting our definition of a surgical robot. 37,981 records were screened to identify 49 surgical robots. Most surgical robots were at Level 1 (86%) and some reached Level 3 (Conditional Autonomy) (6%). 2 surgical robots were recognized by the FDA to have machine learning-enabled capabilities, while more were reported to have these capabilities in their marketing materials. Most surgical robots were introduced via the 510(k) pathway, but a growing number via the De Novo pathway. This review highlights trends toward greater autonomy in surgical robotics. Implementing regulatory frameworks that acknowledge varying levels of autonomy in surgical robots may help ensure their safe and effective integration into surgical practice.
Unmet needs in the post-direct-acting antivirals era: The risk and molecular mechanisms of hepatocellular carcinoma after hepatitis C virus eradication
Authors: Chung-Feng Huang, Manar Hijaze Awad, Meital Gal-Tanamy, Ming-Lung Yu
Journal: Clinical and Molecular Hepatology (2024)

Hepatitis C virus (HCV) infection is one of the major etiologies of hepatocellular carcinoma (HCC) with approximately 30% of HCC being due to HCV infection worldwide. HCV eradication by antivirals greatly reduces the risk of HCC; nevertheless, HCC remains to occur in chronic hepatitis C (CHC) patients who have achieved a sustained virological response (SVR). The proportion of post-SVR HCC among newly diagnosed HCC patients is increasing in the direct-acting antiviral (DAA) era and might be due to preexisting inflammatory and fibrotic liver backgrounds, immune dysregulation between host and virus interactions, as well as host epigenetic scars, genetic predispositions and alternations. By means of applying surrogate markers and adopting risk stratification, HCC surveillance should be consistently performed in high-risk populations. In this review, we discuss the possible molecular mechanism, risk factors, and HCC surveillance strategy for HCC development after HCV eradication in CHC patients.
Induced Self‐Assembly of Vitamin E‐Spermine/siRNA Nanocomplexes via Spermine/Helix Groove‐Specific Interaction for Efficient siRNA Delivery and Antitumor Therapy (Adv. Healthcare Mater. 11/2024)
Authors: Xiaoran Zhao, Qi Xu, Qian Wang, Xingxing Liang, Jing Wang, Hongwei Jin, Yizhi Man, Dongyang Guo, Feng Gao, Xinjing Tang
Journal: Advanced Healthcare Materials (2024)
Visualization Materials Using Silicon‐Based Optical Nanodisks (ViSiON) for Enhanced NIR Imaging in Ophthalmology (Adv. Healthcare Mater. 11/2024)
Authors: Jisun Ki, Hyunji Lee, Tae Geol Lee, Sang‐Won Lee, Jung‐Sub Wi, Hee‐Kyung Na
Journal: Advanced Healthcare Materials (2024)

BiodegradaBle NaNomaterialIn article 2303713, Sang-Won Lee, Jung-Sub Wi, Hee-Kyung Na, and co-workers show that a novel visualization material, composed of silicon nanodisks, exhibits unique optical characteristics in the near-infrared (NIR) region and provides biodegradability.Numerical simulations predict precise control of NIR scattering through diameter-to-thickness ratios.The application of top-down nanofabrication ensures accurate control over both diameter and thickness, making it well-suited for optical coherence tomography.
Single‐Response Duplexing of Electrochemical Label‐Free Biosensor from the Same Tag (Adv. Healthcare Mater. 11/2024)
Authors: Juliana N. Y. Costa, Gabriel J. C. Pimentel, Júlia A. Poker, Leandro Merces, Waldemir J. Paschoalino, Luis C. S. Vieira, Ana C. H. Castro, Wendel A. Alves, Lucas B. Ayres, Lauro T. Kubota, Murilo Santhiago, Carlos D. Garcia, Maria H. O. Piazzetta, Angelo L. Gobbi, Flávio M. Shimizu, Renato S. Lima
Journal: Advanced Healthcare Materials (2024)
Agomirs upregulating carboxypeptidase E expression rescue hippocampal neurogenesis and memory deficits in Alzheimer’s disease
Authors: Dongfang Jiang, Hongmei Liu, Tingting Li, Song Zhao, Keyan Yang, Fuwen Yao, Bo Zhou, Haiping Feng, Sijia Wang, Jiaqi Shen, Jinglan Tang, Yu-Xin Zhang, Yun Wang, Caixia Guo, Tie-Shan Tang
Journal: Translational Neurodegeneration (2024)

Adult neurogenesis occurs in the subventricular zone (SVZ) and the subgranular zone of the dentate gyrus in the hippocampus. The neuronal stem cells in these two neurogenic niches respond differently to various physiological and pathological stimuli. Recently, we have found that the decrement of carboxypeptidase E (CPE) with aging impairs the maturation of brain-derived neurotrophic factor (BDNF) and neurogenesis in the SVZ. However, it remains unknown whether these events occur in the hippocampus, and what the role of CPE is in the adult hippocampal neurogenesis in the context of Alzheimer's disease (AD).
<scp>RETRACTION</scp>: A predictive model of herpes zoster after allogeneic hematopoietic stem cell transplantation: <scp>VZV</scp> reactivation following antiviral prophylaxis discontinuation
Journal: American Journal of Hematology (2024)

Retraction: Feng , C‐J. , Zhao , P. , Fu , H‐X. , Yan , C‐H. , Wang , C‐C. , Zhu , X‐L. , He , Y. , Wang , F‐R. , Zhang , Y‐Y. , Mo , X‐D. , Kong , Y. , Han , W. , Wang , J‐Z. , Wang , Y. , Chen , H. , Chen , Y‐H. , Zhao , X‐Y. , Chang , Y‐J. , Xu , L‐P. , Liu , K‐Y. , Huang , X‐J. , Zhang , X‐H. ( 2023 ) . American Journal of Hematology. https://doi.org/10.1002/ajh.27090 . The above article, published online on 29 September 2023 in Wiley Online Library ( wileyonlinelibrary.com ), has been retracted by agreement between the journal Editor‐in‐Chief Carlo Brugnara and Wiley Periodicals LLC. The retraction has been agreed following notification by a third party who identified methodological errors in the published article. The journal conducted an investigation including post‐publication review by an independent expert, who confirmed that the errors were substantial. The authors provided a point‐for‐point response to the journal about these concerns. However, the journal concluded that while some errors could be corrected, the methodology and data still would contain fundamental errors that invalidate the conclusions. The authors disagree with this retraction.”
NETosis Drives Blood Pressure Elevation and Vascular Dysfunction in Hypertension
Authors: Jaya Krishnan, Elizabeth M. Hennen, Mingfang Ao, Annet Kirabo, Taseer Ahmad, Néstor de la Visitación, David M. Patrick
Journal: Circulation Research (2024)

BACKGROUND: Neutrophil extracellular traps (NETs) are composed of DNA, enzymes, and citrullinated histones that are expelled by neutrophils in the process of NETosis. NETs accumulate in the aorta and kidneys in hypertension. PAD4 (protein-arginine deiminase-4) is a calcium-dependent enzyme that is essential for NETosis. TRPV4 (transient receptor potential cation channel subfamily V member 4) is a mechanosensitive calcium channel expressed in neutrophils. Thus, we hypothesize that NETosis contributes to hypertension via NET-mediated endothelial cell (EC) dysfunction. METHODS: NETosis-deficient Padi4 −/− mice were treated with Ang II (angiotensin II). Blood pressure was measured by radiotelemetry, and vascular reactivity was measured with wire myography. Neutrophils were cultured with or without ECs and exposed to normotensive or hypertensive uniaxial stretch. NETosis was measured by flow cytometry. ECs were treated with citrullinated histone H3, and gene expression was measured by quantitative reverse transcription PCR. Aortic rings were incubated with citrullinated histone H3, and wire myography was performed to evaluate EC function. Neutrophils were treated with the TRPV4 agonist GSK1016790A. Calcium influx was measured using Fluo-4 dye, and NETosis was measured by immunofluorescence. RESULTS: Padi4 −/− mice exhibited attenuated hypertension, reduced aortic inflammation, and improved EC-dependent vascular relaxation in response to Ang II. Coculture of neutrophils with ECs and exposure to hypertensive uniaxial stretch increased NETosis and accumulation of neutrophil citrullinated histone H3. Histone H3 and citrullinated histone H3 exposure attenuates EC-dependent vascular relaxation. Treatment of neutrophils with the TRPV4 agonist GSK1016790A increases intracellular calcium and NETosis. CONCLUSIONS: These observations identify a role of NETosis in the pathogenesis of hypertension. Moreover, they define an important role of EC stretch and TRPV4 as initiators of NETosis. Finally, they define a role of citrullinated histones as drivers of EC dysfunction in hypertension.
Multienzyme Active Manganese Oxide Alleviates Acute Liver Injury by Mimicking Redox Regulatory System and Inhibiting Ferroptosis (Adv. Healthcare Mater. 11/2024)
Authors: Aimin Wu, Min Li, Yinyin Chen, Wei Zhang, Haoran Li, Junzhou Chen, Ke Gu, Xianxiang Wang
Journal: Advanced Healthcare Materials (2024)
Polygenic scores for longitudinal prediction of incident type 2 diabetes in an ancestrally and medically diverse primary care physician network: a patient cohort study
Authors: Ravi Mandla, Philip Schroeder, Bianca Porneala, Jose C Florez, James B Meigs, Josep M Mercader, Aaron Leong
Journal: Genome Medicine (2024)

Abstract Background The clinical utility of genetic information for type 2 diabetes (T2D) prediction with polygenic scores (PGS) in ancestrally diverse, real-world US healthcare systems is unclear, especially for those at low clinical phenotypic risk for T2D. Methods We tested the association of PGS with T2D incidence in patients followed within a primary care practice network over 16 years in four hypothetical scenarios that varied by clinical data availability ( N = 14,712): (1) age and sex; (2) age, sex, body mass index (BMI), systolic blood pressure, and family history of T2D; (3) all variables in (2) and random glucose; and (4) all variables in (3), HDL, total cholesterol, and triglycerides, combined in a clinical risk score (CRS). To determine whether genetic effects differed by baseline clinical risk, we tested for interaction with the CRS. Results PGS was associated with incident T2D in all models. Adjusting for age and sex only, the Hazard Ratio (HR) per PGS standard deviation (SD) was 1.76 (95% CI 1.68, 1.84) and the HR of top 5% of PGS vs interquartile range (IQR) was 2.80 (2.39, 3.28). Adjusting for the CRS, the HR per SD was 1.48 (1.40, 1.57) and HR of the top 5% of PGS vs IQR was 2.09 (1.72, 2.55). Genetic effects differed by baseline clinical risk ((PGS-CRS interaction p = 0.05; CRS below the median: HR 1.60 (1.43, 1.79); CRS above the median: HR 1.45 (1.35, 1.55)). Conclusions Genetic information can help identify high-risk patients even among those perceived to be low risk in a clinical evaluation.
Association between anti-capsular IgG levels at birth and risk of invasive group B streptococcus disease in Finnish newborns: a retrospective case–control study
Authors: Annika Saukkoriipi, Natalie C Silmon de Monerri, Maija Toropainen, Laura Lindholm, Riitta Veijola, Jorma Toppari, Mikael Knip, David Radley, Emily Gomme, Babalwa Jongihlati, Annaliesa S Anderson, Arto A Palmu, Raphael Simon
Journal: The Lancet Microbe (2024)

BackgroundGroup B streptococcus is a major cause of neonatal disease. Natural history studies have linked maternally transferred anti-group B streptococcus capsular polysaccharide antibodies with protection against infant group B streptococcus disease. Previous studies of capsular polysaccharide antibody concentration in European populations have used maternal (not infant) sera and a non-standardised assay. This study aimed to evaluate anti-capsular polysaccharide IgG concentrations associated with protection against invasive group B streptococcus disease in Finnish infants.MethodsIn this retrospective case–control study, we used cord sera from the Finnish DIPP study repository, which was obtained between Jan 1, 1995, and Dec 31, 2017. We included infants aged 6 months or younger with group B streptococcus infection (cases) and healthy infants (controls). We enrolled infants with invasive neonatal group B streptococcus (55 cases) and matched controls (229 controls) aged 6 months or younger after identification from Finnish health registers. We measured anti-capsular polysaccharide IgG (serotypes Ia–V) concentration using a standardised immunoassay and we estimated its relationship to disease risk using a Bayesian model. We used the derived risk–concentration curve to predict potential efficacy of six-valent group B streptococcus capsular polysaccharide vaccine (GBS6) based on previously reported immunogenicity data.FindingsMost (32 [58%] of 55 cases) group B streptococcus cases were due to serotype III and anti-serotype III streptococcus capsular IgG concentrations were higher in serotype III-matched controls than in cases (p<0·001). 0·120–0·266 μg/mL serotype III-specific IgG was estimated to confer 75–90% risk reduction against serotype III disease. A universal risk–concentration curve, aggregating results across all six serotypes, yielded similar results. Application of this curve to GBS6 immunogenicity data predicted maternal immunisation to be more than 80% efficacious for prevention of infant group B streptococcus disease.InterpretationHigher neonatal anti-capsular polysaccharide serum IgG concentration at birth correlated with reduced risk of infant group B streptococcus disease in Finland. Based on these results, a maternal group B streptococcus capsular conjugate vaccine currently in development is predicted to be efficacious.FundingPfizer.
Interventions to prevent and treat delirium: an umbrella review of randomized controlled trials
Authors: Nicola Veronese, Luisa Solimando, Francesco Bolzetta, Stefania Maggi, Jess G. Fiedorowicz, Arnav Gupta, Nicholas Fabiano, Stanley Wong, Laurent Boyer, Guillaume Fond, Elena Dragioti, Ligia J. Dominguez, Mario Barbagallo, Stefano Romagnoli, Giuseppe Bellelli, Marco Solmi
Journal: Ageing Research Reviews (2024)

Delirium is a common condition across different settings and populations. The interventions for preventing and managing this condition are still poorly known. The aim of this umbrella review is to synthesize and grade all preventative and therapeutic interventions for delirium. We searched five databases from database inception up to March 15th, 2023 and we included meta-analyses of randomized controlled trials (RCTs) to decrease the risk of/the severity of delirium. From 1959 records after deduplication, we included 59 systematic reviews with meta-analyses, providing 110 meta-analytic estimates across populations, interventions, outcomes, settings, and age groups (485 unique RCTs, 172,045 participants). In surgery setting, for preventing delirium, high GRADE evidence supported dexmedetomidine (RR=0.53; 95%CI: 0.46-0.67, k=13, N=3988) and comprehensive geriatric assessment (OR=0.46; 95%CI=0.32-0.67, k=3, N=496) in older adults, dexmedetomidine in adults (RR=0.33, 95%CI=0.24-0.45, k=7, N=1974), A2-adrenergic agonists after induction of anesthesia (OR= 0.28, 95%CI= 0.19-0.40, k=10, N=669) in children. High certainty evidence did not support melatonergic agents in older adults for delirium prevention. Moderate certainty supported the effect of dexmedetomidine in adults and children (k=4), various non-pharmacological interventions in adults and older people (k=4), second-generation antipsychotics in adults and mixed age groups (k=3), EEG-guided anesthesia in adults (k=2), mixed pharmacological interventions (k=1), five other specific pharmacological interventions in children (k=1 each). In conclusion, our work indicates that effective treatments to prevent delirium differ across populations, settings, and age groups. Results inform future guidelines to prevent or treat delirium, accounting for safety and costs of interventions. More research is needed in non-surgical settings.
Reply to Ilias Giannakodimos’ Letter to the Editor re: Jim C. Hu, Melissa Assel, Mohamad E. Allaf, et al. Transperineal Versus Transrectal Magnetic Resonance Imaging-targeted and Systematic Prostate Biopsy to Prevent Infectious Complications: The PREVENT Randomized Trial. Eur Urol. 2024;86:61–68
Authors: Jim C. Hu, Edward M. Schaeffer, Andrew J. Vickers
Journal: European Urology (2024)
Expanding global health dermatology leadership: launching the GLODERM international mentorship programme
Authors: Alexis G Strahan, Olivia M  T Davies, Lucía T Fernández, Inena Wa Inena Gaylord, Yared Getachew Mekonnen, Marlous L Grijsen, Jose E Ollague, Doriane Sabushimike, Luisa Polo Silveira, Toby Maurer, Roni P Dodiuk-Gad, Archana Singal, Henry W Lim, Arpita Bhose, Janet E Lubov, Shivani Jain, Morvarid Zehtab, Tom Allison, Maud Guerin, Wendemagegn Enbiale, Wingfield Rehmus, Karolyn A Wanat, L Claire Fuller, Elizabeth Bailey, Esther E Freeman
Journal: British Journal of Dermatology (2024)

The lack of access to dermatological care is a global health crisis. Providing intentional mentorship to emerging leaders in low- and middle-income countries is foundational to increasing access to care. The GLODERM Mentorship Programme is a first-of-its-kind programme created to support changemakers in global health dermatology in enhancement of leadership skills.
Regeneration of Nonhuman Primate Hearts With Human Induced Pluripotent Stem Cell–Derived Cardiac Spheroids
Authors: Hideki Kobayashi, Shugo Tohyama, Hajime Ichimura, Noburo Ohashi, Shuji Chino, Yusuke Soma, Hidenori Tani, Yuki Tanaka, Xiao Yang, Naoko Shiba, Shin Kadota, Kotaro Haga, Taijun Moriwaki, Yuika Morita-Umei, Tomohiko C. Umei, Otoya Sekine, Yoshikazu Kishino, Hideaki Kanazawa, Hiroyuki Kawagishi, Mitsuhiko Yamada, Kazumasa Narita, Takafumi Naito, Tatsuichiro Seto, Koichiro Kuwahara, Yuji Shiba, Keiichi Fukuda
Journal: Circulation (2024)

The clinical application of human induced pluripotent stem cell-derived cardiomyocytes (CMs) for cardiac repair commenced with the epicardial delivery of engineered cardiac tissue; however, the feasibility of the direct delivery of human induced pluripotent stem cell-derived CMs into the cardiac muscle layer, which has reportedly induced electrical integration, is unclear because of concerns about poor engraftment of CMs and posttransplant arrhythmias. Thus, in this study, we prepared purified human induced pluripotent stem cell-derived cardiac spheroids (hiPSC-CSs) and investigated whether their direct injection could regenerate infarcted nonhuman primate hearts.
NextDenovo: an efficient error correction and accurate assembly tool for noisy long reads
Authors: Jiang Hu, Zhuo Wang, Zongyi Sun, Benxia Hu, Adeola Oluwakemi Ayoola, Fan Liang, Jingjing Li, José R. Sandoval, David N. Cooper, Kai Ye, Jue Ruan, Chuan-Le Xiao, Depeng Wang, Dong-Dong Wu, Sheng Wang
Journal: Genome biology (2024)

Long-read sequencing data, particularly those derived from the Oxford Nanopore sequencing platform, tend to exhibit high error rates. Here, we present NextDenovo, an efficient error correction and assembly tool for noisy long reads, which achieves a high level of accuracy in genome assembly. We apply NextDenovo to assemble 35 diverse human genomes from around the world using Nanopore long-read data. These genomes allow us to identify the landscape of segmental duplication and gene copy number variation in modern human populations. The use of NextDenovo should pave the way for population-scale long-read assembly using Nanopore long-read data.
Rapid immune reconstitution following the infusion of autologous, Blinatumomab Expanded T-cells (BET) in patients with B-cell indolent NHL or CLL
Authors: Giuseppe Gritti, Silvia Ferrari, Federico Lussana, Anna Maria Barbui, Francesco Landi, Monica Rondi, Alessandro Putelli, Francesco Ballardini, Giulia Quaresmini, Muriel Paganessi, Chiara Pavoni, Arianna Ghirardi, Elisa Gotti, Chiara Capelli, Josée Golay, Martino Introna, Alessandro Rambaldi
Journal: Blood Cancer Journal (2024)
Contact tracing management of a measles case in a paediatric hospital: experience of the local public health unit, Portugal, January 2024
Authors: Daniel Saldanha Resendes, António Tomás, Mariana Pinção Cardoso, Sebastian von Schreeb, Rita Miranda Ferrão, Paula Vasconcelos, Maria Helena Almeida, Bruno Novo Castro, Vasco Ricoca Peixoto, Renato Lourenço Silva, Margarida de Morais
Journal: Eurosurveillance (2024)

In January 2024, a child was diagnosed with measles in a paediatric hospital in Lisbon. Of 123 contacts, 39 (32%) were not fully immunised, presenting a risk for a potential outbreak. The public health unit initiated control measures and identified challenges during the response, such as the lack of interoperability between information systems and accessing vaccination records. The lessons learned prompted changes to national contact tracing procedures for measles, further strengthening Portugal's preparedness.