tbuckley/cabot-search huggingface dataset:
Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice
Authors: Jessica L. Haigh, Anna Adhikari, Nycole A. Copping, Tyler Stradleigh, A. Ayanna Wade, Rinaldo Catta-Preta, Linda Su-Feher, Iva Zdilar, Sarah Morse, Timothy A. Fenton, Anh Nguyen, Diana Quintero, Samrawit Agezew, Michael Sramek, Ellie J. Kreun, Jasmine Carter, Andrea Gompers, Jason T. Lambert, Cesar P. Canales, Len A. Pennacchio, Axel Visel, Diane E. Dickel, Jill L. Silverman, Alex S. Nord
Journal: Genome Medicine (2021)

Abstract Background Genes with multiple co-active promoters appear common in brain, yet little is known about functional requirements for these potentially redundant genomic regulatory elements. SCN1A, which encodes the Na V 1.1 sodium channel alpha subunit, is one such gene with two co-active promoters. Mutations in SCN1A are associated with epilepsy, including Dravet syndrome (DS). The majority of DS patients harbor coding mutations causing SCN1A haploinsufficiency; however, putative causal non-coding promoter mutations have been identified. Methods To determine the functional role of one of these potentially redundant Scn1a promoters, we focused on the non-coding Scn1a 1b regulatory region, previously described as a non-canonical alternative transcriptional start site. We generated a transgenic mouse line with deletion of the extended evolutionarily conserved 1b non-coding interval and characterized changes in gene and protein expression, and assessed seizure activity and alterations in behavior. Results Mice harboring a deletion of the 1b non-coding interval exhibited surprisingly severe reductions of Scn1a and Na V 1.1 expression throughout the brain. This was accompanied by electroencephalographic and thermal-evoked seizures, and behavioral deficits. Conclusions This work contributes to functional dissection of the regulatory wiring of a major epilepsy risk gene, SCN1A . We identified the 1b region as a critical disease-relevant regulatory element and provide evidence that non-canonical and seemingly redundant promoters can have essential function.
IMPELLA CP-ASSISTED BALLOON AORTIC VALVULOPLASTY IN PATIENT WITH BICUSPID AORTIC VALVE IN CARDIOGENIC SHOCK
Authors: Linle Hou, Ibrahim Ali, Arvind Reddy Devanabanda, Rajiv Jauhar, Perwaiz Meraj, Avneet Singh
Journal: Journal of the American College of Cardiology (2021)
A NOVEL RISK PREDICTION MODEL FOR PRE-OPERATIVE CARDIAC CLEARANCE IN CHRONIC KIDNEY DISEASE PATIENTS ON HEMODIALYSIS UNDERGOING RENAL TRANSPLANT EVALUATION
Authors: George Nasr, Louie Cao, Frederick Chua, Akash H. Patel, Anton M. Palma, Diana Glovaci, Pranav Patel, Dawn Lombardo
Journal: Journal of the American College of Cardiology (2021)
ELECTRONIC HEALTH RECORD CLINICAL DECISION SUPPORT TOOL IMPROVES STATIN PRESCRIPTION RATES FOR THE PREVENTION AND TREATMENT OF ATHEROSCLEROTIC CARDIOVASCULAR DISEASE
Authors: Adam Custer, Tran Do, Pratyaksh Srivastava, Hazel Oza, Ashwin Buchipudi, Ashley Turner, Anna Dermenchyan, Sitaram Vangala, Ben Waterman, Hawkin Woo, Maria Han, Gregg Fonarow, Daniel Croymans
Journal: Journal of the American College of Cardiology (2021)
A CASE OF ACUTE CORONARY SYNDROME SECONDARY TO RECURRENT LEFT VENTRICULAR OUTLET TRACT ANEURYSM AFTER AORTIC VALVE ENDOCARDITIS
Authors: Amr Salama, Abdullah Sayied Abdullah, Erfan Alotaki, Bipul Baibhav, Mohan Rao, Jeremiah Depta
Journal: Journal of the American College of Cardiology (2021)
Whole-genome sequencing with long reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer
Authors: Akihiro Fujimoto, Jing Hao Wong, Yukiko Yoshii, Shintaro Akiyama, Azusa Tanaka, Hitomi Yagi, Daichi Shigemizu, Hidewaki Nakagawa, Masashi Mizokami, Mihoko Shimada
Journal: Genome Medicine (2021)

Abstract Background Identification of germline variation and somatic mutations is a major issue in human genetics. However, due to the limitations of DNA sequencing technologies and computational algorithms, our understanding of genetic variation and somatic mutations is far from complete. Methods In the present study, we performed whole-genome sequencing using long-read sequencing technology (Oxford Nanopore) for 11 Japanese liver cancers and matched normal samples which were previously sequenced for the International Cancer Genome Consortium (ICGC). We constructed an analysis pipeline for the long-read data and identified germline and somatic structural variations (SVs). Results In polymorphic germline SVs, our analysis identified 8004 insertions, 6389 deletions, 27 inversions, and 32 intra-chromosomal translocations. By comparing to the chimpanzee genome, we correctly inferred events that caused insertions and deletions and found that most insertions were caused by transposons and Alu is the most predominant source, while other types of insertions, such as tandem duplications and processed pseudogenes, are rare. We inferred mechanisms of deletion generations and found that most non-allelic homolog recombination (NAHR) events were caused by recombination errors in SINEs. Analysis of somatic mutations in liver cancers showed that long reads could detect larger numbers of SVs than a previous short-read study and that mechanisms of cancer SV generation were different from that of germline deletions. Conclusions Our analysis provides a comprehensive catalog of polymorphic and somatic SVs, as well as their possible causes. Our software are available at https://github.com/afujimoto/CAMPHOR and https://github.com/afujimoto/CAMPHORsomatic .
Safety of the standardized quality tree sublingual immunotherapy tablet: Pooled safety analysis of clinical trials
Authors: Tilo Biedermann, Peter Couroux, Tina Maria Greve, Mika Mäkelä
Journal: Allergy (2021)

Abstract Background The standardized quality (SQ) tree sublingual immunotherapy (SLIT)‐tablet has recently been approved for treatment of tree pollen allergy. Healthcare workers should be provided with detailed safety data for clinical use. Objective To assess the tolerability and safety of the SQ tree SLIT‐tablet (12 SQ‐Bet) in adults and adolescents. Methods Safety data were pooled from three double‐blinded, randomized, placebo‐controlled trials (2 phase‐II/1 phase‐III) including adults and adolescents 12–65 years with allergic rhinitis and/or conjunctivitis treated before and during one pollen season once‐daily with 12 SQ‐Bet ( n = 471) or placebo ( n = 458): EudraCT no: 2012‐000031‐59; NCT02481856; EudraCT 2015‐004821‐15. Results The most frequently reported investigational medicinal product (IMP)‐related AEs with 12 SQ‐Bet were oral pruritis (39% of subjects) and throat irritation (29%). IMP‐related AEs were mainly mild or moderate in severity, and the majority resolved without treatment and did not lead to treatment interruption/discontinuation. With 12 SQ‐Bet, oral pruritus was more frequent among subjects with pollen food syndrome (PFS) (45%) than without PFS (29%). The 12 SQ‐Bet did not seem to induce an increased risk of asthma: 7 events were reported in 7 subjects with 12 SQ‐Bet and 11 in 10 subjects with placebo. No differences were seen in the risk of moderate‐to‐severe IMP‐related AEs regardless of age, PFS status and asthma medical history. Conclusions The 12 SQ tree SLIT‐tablet was well tolerated in tree pollen allergic subjects with no major safety concerns detected. This safety profile supports daily at‐home sublingual administration once the first dose is tolerated when administered under medical supervision.
Landscape of Adverse Events Related to Peroral Endoscopic Myotomy in 3135 Patients and a Risk-Scoring System to Predict Major Adverse Events
Authors: Xinyang Liu, Lu Yao, Jing Cheng, Meidong Xu, Shiyao Chen, Yunshi Zhong, Mengjiang He, Weifeng Chen, Yiqun Zhang, Wenzheng Qin, Jianwei Hu, Mingyan Cai, Liqing Yao, Pinghong Zhou, Quanlin Li
Journal: Clinical Gastroenterology and Hepatology (2021)
USPSTF Recommendations for Screening for Hypertension in Adults
Authors: Yuichiro Yano, Donald M. Lloyd-Jones
Journal: JAMA Cardiology (2021)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA Cardiology HomeNew OnlineCurrent IssueFor Authors Podcast Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA Cardiology journal
Effect of Denosumab or Alendronic Acid on the Progression of Aortic Stenosis: A Double-Blind Randomized Controlled Trial
Authors: Tania A. Pawade, Mhairi K. Doris, Rong Bing, Audrey C. White, Laura Forsyth, Emily Evans, Catriona Graham, Michelle C. Williams, Edwin J.R. van Beek, Alison Fletcher, Philip D. Adamson, Jack P.M. Andrews, Timothy R.G. Cartlidge, William S.A. Jenkins, Maaz Syed, Takeshi Fujisawa, Christophe Lucatelli, William Fraser, Stuart H. Ralston, Nicholas Boon, Bernard Prendergast, David E. Newby, Marc R. Dweck
Journal: Circulation (2021)

Valvular calcification is central to the pathogenesis and progression of aortic stenosis, with preclinical and observational studies suggesting that bone turnover and osteoblastic differentiation of valvular interstitial cells are important contributory mechanisms. We aimed to establish whether inhibition of these pathways with denosumab or alendronic acid could reduce disease progression in aortic stenosis.
TRIGGERS AND OUTCOMES OF TAKOTSUBO CARDIOMYOPATHY IN CANCER PATIENTS
Authors: Antoine Addoumieh, Dinu Balanescu, Teodora Donisan, Juan Lopez-Mattei, Peter Kim, Saamir Hassan, Nicolas Palaskas, Konstantinos Marmagkiolis, Eric H. Yang, Cezar Iliescu
Journal: Journal of the American College of Cardiology (2021)
Hand Hygiene Compliance Rate During the COVID-19 Pandemic
Authors: Sonya Makhni, Craig A. Umscheid, Jackie Soo, Vera Chu, Allison Bartlett, Emily Landon, Rachel Marrs
Journal: JAMA Internal Medicine (2021)

This quality improvement study assesses hand hygiene compliance rates in a hospital with an automated hand hygiene monitoring system during the COVID-19 pandemic.
Prevalence and Characteristics of Non–US-Born and US-Born Health Care Professionals, 2010-2018
Authors: Yvonne Commodore-Mensah, Kelli DePriest, Laura J. Samuel, Ginger Hanson, Rita D’Aoust, Eric P. Slade
Journal: JAMA Network Open (2021)

<h3>Importance</h3> Immigration to the US results in greater racial/ethnic diversity. However, the contribution of immigration to the diversity of the US health care professional (HCP) work force and its contribution to health care are poorly documented. <h3>Objective</h3> To examine the sociodemographic characteristics and workforce outcomes of non–US-born and US-born HCPs. <h3>Design, Setting, and Participants</h3> This cross-sectional study used national US Census Bureau data on US-born and non–US-born HCPs from the American Community Survey between 2010 and 2018. Demographic characteristics and occupational data for physicians, advanced practice registered nurses, physician assistants, registered nurses, licensed practical nurses or licensed vocational nurses, and other HCPs were included for analysis. Data were analyzed between December 2020 and February 2021. <h3>Exposures</h3> Nativity status, defined as US-born HCP vs non–US-born HCP (further stratified by &lt;10 years or ≥10 years of stay in the US). <h3>Main Outcomes and Measures</h3> Annual hours worked, proportion of work done at night, residence in medically underserved areas and populations, and work in skilled nursing/home health settings. Inverse probability weighting of 3 nativity status groups was carried out using logistic regression.<i>F</i>test statistics were used to test across-group differences. Data were weighted using American Community Survey sampling weights. <h3>Results</h3> Of a total of 657 455 HCPs analyzed (497 180 [75.5%] women; mean [SD] age, 43.7 [13.0] years; 518 317 [75.6%] White, 54 233 [10.8%] Black, and 60 680 [9.6%] Asian), non–US-born HCPs (105 331 in total) represented 17.3% (95% CI, 17.2%-17.4%) of HCPs between 2010 and 2018. They were older (mean [SD] age, 44.7 [11.6] years) and had more education (75 227 [70.1%] HCPs completed college) compared with US-born HCPs (mean [SD] age, 43.4 [13.3] years; 304 601 [55.2%] completed college). Nearly half of non–US-born HCPs (47 735 [43.0%]) were Asian. In major metropolitan areas, non–US-born HCPs represented 40% or more of all HCPs. Compared with US-born HCPs, non–US-born HCPs with less than 10 years and 10 or more years of stay worked 32.3 hours (95% CI, 19.2 to 45.4 hours) and 71.6 hours (95% CI, 65.1 to 78.2 hours) more per year, respectively. Compared with US-born HCPs, non–US-born HCPs were more likely to reside in areas with shortages of health care professionals (estimated percentage: &lt;10 years, 75.3%; ≥10 years, 62.8% vs US-born, 8.3%) and work in home health settings (estimated percentage: &lt;10 years, 17.5%; ≥10 years, 13.1% vs US-born, 12.8%). <h3>Conclusions and Relevance</h3> The contributions of non–US-born HCPs to US health care are substantial and vary by profession. Greater efforts should be made to streamline their immigration process and to harmonize training and licensure requirements.
Erratum. Ketones in Pregnancy: Why Is It Considered Necessary to Avoid Them and What Is the Evidence Behind Their Perceived Risk? Diabetes Care 2021;44:280–289
Authors: Helen L. Tanner, Marloes Dekker Nitert, Leonie K. Callaway, Helen L. Barrett
Journal: Diabetes Care (2021)

The authors wish to correct the second sentence in the section labeled “Ketone Physiology,” as follows (replacement text in boldface): Ketone …
Mitochondrial complex I abnormalities is associated with tau and clinical symptoms in mild Alzheimer’s disease
Authors: Tatsuhiro Terada, Joseph Therriault, Min Su Peter Kang, Melissa Savard, Tharick Ali Pascoal, Firoza Lussier, Cecile Tissot, Yi-Ting Wang, Andrea Benedet, Takashi Matsudaira, Tomoyasu Bunai, Tomokazu Obi, Hideo Tsukada, Yasuomi Ouchi, Pedro Rosa-Neto
Journal: Molecular Neurodegeneration (2021)

Abstract Background Mitochondrial electron transport chain abnormalities have been reported in postmortem pathological specimens of Alzheimer’s disease (AD). However, it remains unclear how amyloid and tau are associated with mitochondrial dysfunction in vivo. The purpose of this study is to assess the local relationships between mitochondrial dysfunction and AD pathophysiology in mild AD using the novel mitochondrial complex I PET imaging agent [ 18 F]BCPP-EF. Methods Thirty-two amyloid and tau positive mild stage AD dementia patients (mean age ± SD: 71.1 ± 8.3 years) underwent a series of PET measurements with [ 18 F]BCPP-EF mitochondrial function, [ 11 C]PBB3 for tau deposition, and [ 11 C] PiB for amyloid deposition. Age-matched normal control subjects were also recruited. Inter and intrasubject comparisons of levels of mitochondrial complex I activity, amyloid and tau deposition were performed. Results The [ 18 F]BCPP-EF uptake was significantly lower in the medial temporal area, highlighting the importance of the mitochondrial involvement in AD pathology. [ 11 C]PBB3 uptake was greater in the temporo-parietal regions in AD. Region of interest analysis in the Braak stage I-II region showed significant negative correlation between [ 18 F]BCPP-EF SUVR and [ 11 C]PBB3 BP ND (R = 0.2679, p = 0.04), but not [ 11 C] PiB SUVR. Conclusions Our results indicated that mitochondrial complex I is closely associated with tau load evaluated by [ 11 C]PBB3, which might suffer in the presence of its off-target binding. The absence of association between mitochondrial complex I dysfunction with amyloid load suggests that mitochondrial dysfunction in the trans-entorhinal and entorhinal region is a reflection of neuronal injury occurring in the brain of mild AD.
HepQuant SHUNT Detects Portal Hypertension in Early Stages of Clinically Compensated Chronic Liver Disease
Authors: Amanda Wieland, Ohad Etzion, Rabab O. Ali, Elliot Levy, David E. Kleiner, Steve M. Helmke, Theo Heller, Gregory T. Everson
Journal: Clinical Gastroenterology and Hepatology (2021)
The effect of vascular reconstruction on early postoperative outcomes after pancreaticoduodenectomy: An analysis of the American College of Surgeons National Surgical Quality Improvement Program database.
Authors: Anthony W. Castleberry, Rebekah Ruth White, Sebastian G. De La Fuente, Douglas S. Tyler, Theodore N. Pappas, John E. Scarborough
Journal: Journal of Clinical Oncology (2012)

153 Background: Several single-center reports have been published suggesting that vascular reconstruction (VR) during pancreaticoduodenectomy (PD) allows an acceptable oncologic outcome in patients with pancreatic adenocarcinoma without affecting early postoperative mortality or morbidity. The objective of our study was to review the outcomes associated with VR during PD using a large multicenter data source. Methods: A retrospective cohort analysis was performed using the American College of Surgeons National Surgical Quality Improvement Program (ACS-NSQIP) Participant User Files for 2005-2009. All patients undergoing PD for a postoperative diagnosis of malignant neoplasm of the pancreas were included. Forward stepwise multivariate regression analysis was used to determine the association between VR during PD and 30-day postoperative mortality and morbidity after adjusting for patient demographics and comorbidities. Results: 3582 patients were included for analysis, 281 (7.8%) of whom underwent VR during PD. VR during PD was associated with significantly greater risk-adjusted 30-day postoperative mortality (5.7% with VR vs. 2.9% without VR, Adjusted Odds Ratio (AOR) 2.1, 95% CI 1.22-3.73, p = 0.008) and overall morbidity (39.9% with VR vs. 33.3% without VR, AOR 1.36, 95% CI 1.05-1.75, p = 0.02). Patients undergoing VR required significantly longer operative times, and were more likely to require intraoperative transfusion or early reoperation, than patients not undergoing VR during PD. There was no significant difference in risk-adjusted postoperative mortality or morbidity between those patients undergoing VR by the primary surgical team versus those patients undergoing VR by a vascular surgical team. Conclusions: Contrary to the findings of several previously published single-center analyses, data from ACS-NSQIP suggests that VR significantly increases the risk of 30-day postoperative death or complications after PD. Patients who may require VR during PD will likely benefit from referral to centers with sufficient experience with this procedure.
CORONARY ARTERY DISEASE AND CARDIOVASCULAR OUTCOMES IN HEART FAILURE: INSIGHTS FROM THE VERICIGUAT GLOBAL STUDY IN SUBJECTS WITH HEART FAILURE WITH REDUCED EJECTION FRACTION (VICTORIA) TRIAL
Authors: Paul Wayne Armstrong, Clara Ines Saldarriaga Giraldo, Dan Atar, Amanda Stebbins, Basil Lewis, Imran Abidin, Javed Butler, Justin Ezekowitz, Adrian Hernandez, Joerg Koglin, Carolyn Lam, Christopher O'Connor, Burkert Pieske, Piotr Ponikowski, Lothar Roessig, Adriaan Voors, Kevin Anstrom
Journal: Journal of the American College of Cardiology (2021)
RISK FACTORS FOR COVID-19 RELATED MORTALITY- A SYSTEMATIC REVIEW AND META-ANALYSIS OF 26 STUDIES AND 9690 PATIENTS
Authors: Sunny Goel, Damini Saxena, Gurpreet Johal, Amit Hooda, Faisal Saiful, Nagendraboopathy Senguttuvan, Parasuram Melarcode Krishnamoorthy, Umesh Gidwani
Journal: Journal of the American College of Cardiology (2021)
Interim findings from first-dose mass COVID-19 vaccination roll-out and COVID-19 hospital admissions in Scotland: a national prospective cohort study
Authors: Eleftheria Vasileiou, Colin R Simpson, Ting Shi, Steven Kerr, Utkarsh Agrawal, Ashley Akbari, Stuart Bedston, Jillian Beggs, Declan Bradley, Antony Chuter, Simon de Lusignan, Annemarie B Docherty, David Ford, FD Richard Hobbs, Mark Joy, Srinivasa Vittal Katikireddi, James Marple, Colin McCowan, Dylan McGagh, Jim McMenamin, Emily Moore, Josephine LK Murray, Jiafeng Pan, Lewis Ritchie, Syed Ahmar Shah, Sarah Stock, Fatemeh Torabi, Ruby SM Tsang, Rachael Wood, Mark Woolhouse, Chris Robertson, Aziz Sheikh
Journal: The Lancet (2021)
Time for Deliberate Organizational and Departmental Action—Seize the Awakening
Authors: Tania K. Arora, Caprice C. Greenberg
Journal: JAMA Surgery (2021)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA Surgery HomeNew OnlineCurrent IssueFor Authors Podcast Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA Surgery journal