tbuckley/cabot-search huggingface dataset:
Risks of Changing Estimated Glomerular Filtration Rate Thresholds in Older Persons—Reply
Authors: Ping Liu, Carlee Thorsen, Pietro Ravani
Journal: JAMA Internal Medicine (2021)

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The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database*
Authors: Gabriela Petrof, Maria Papanikolaou, Anna E. Martinez, Jemima E. Mellerio, John A. McGrath, Ajoy Bardhan, Natasha Harper, Adrian Heagerty, Malobi Ogboli, Christopher Chiswell, Celia Moss
Journal: British Journal of Dermatology (2021)

The National Health Service (NHS) epidermolysis bullosa (EB) service, established in 2002, offers comprehensive, free care to all patients in England and Wales.To quantify prevalence, incidence and mortality of EB in England and Wales.Demographic data for patients in England and Wales were collected on a secure electronic database, prospectively from January 2002 to April 2021 and retrospectively for cases prior to 2002. Vital status was verified using central NHS data.By March 2021, 2594 individuals were registered, of whom 2361 were living, which yielded a prevalence of 34·8 per million of the population for all EB types [EB simplex (EBS) 17 per million, dystrophic EB (DEB) 10·7 per million, junctional EB (JEB) 1 per million and Kindler EB 0·3 per million]. We recorded 1200 babies with EB born since 2002. The average incidence per million live births for EBS, DEB, JEB and Kindler EB was 32·5, 26·1, 8·9 and 0·9, respectively (total incidence for all types of EB was 67·8 per million). Birth rates fell progressively over the 19-year period for JEB-severe (JEB-S) (r = -0·56) and recessive DEB-severe (r = -0·44) and also for milder types of EB. We observed longer survival in JEB-S over the 19-year period (r2 = 0·18) with a median survival of 12·7 months over the past 5 years.In this study, we provide the first accurate epidemiological data for EB in England and Wales. We believe the observed reduction in birth incidence of severe types of EB reflects an uptake of genetic counselling advice, whereas the reduction in milder types may be due to delayed presentation. A potential small trend towards longer survival of babies with JEB-S may reflect improved multidisciplinary care.
Correction: Retrograde endosonography-guided hepaticojejunostomy after failed rendezvous in a patient with Roux-en-Y anastomosis
Authors: Takeshi Okamoto, Kenji Nakamura, Minoru Yabuta, Katsuyuki Fukuda
Journal: Endoscopy (2021)

Correction to: Retrograde endosonography-guided hepaticojejunostomy after failed rendezvous in a patient with Child’s resectionEndoscopy 2022; 54(04): E131-E132DOI: 10.1055/a-1443-4244
Elamipretide treatment during pregnancy ameliorates the progression of polycystic kidney disease in maternal and neonatal mice with PKD1 mutations
Authors: Nastaran Daneshgar, Peir-In Liang, Renny S. Lan, McKenna M. Horstmann, Lindsay Pack, Gourav Bhardwaj, Christie M. Penniman, Brian T. O’Neill, Dao-Fu Dai
Journal: Kidney International (2021)
Abstract 13737: Enhanced Prehospital End-Tidal CO2 Monitor Data Analysis for Intubated Severe Traumatic Brain Injury: Striking Findings From the EPIC Study
Authors: Daniel W Spaite, Bruce J Barnhart, Eric Helfenbein, Dawn Jorgenson, Saeed Babaeizadeh, Joshua B Gaither, Amber D Rice, Samuel M Keim, Chengcheng Hu
Journal: Circulation (2021)

Background: Studies show that EMS patients are often inadvertently hyperventilated (HV), resulting in hypocapnia. In TBI, HV markedly increases mortality. We evaluated continuous prehospital ETCO2 data in intubated TBI patients. Methods: Analysis of monitor data files (Philips MRx™) from a sample of intubated TBI cases in the EPIC Study (NIH-R01NS071049). Results: Among hundreds of cases, graphical display of continuous ETCO2 from 3 subjects dramatically exemplified commonly-occurring inadvertent HV. Fig 1 shows unrecognized HV lasting nearly 15 min. Fig 2 reveals nearly 14 min of increasing ventilatory rate and progressively worsening hypocapnia. Fig 3 shows nearly 4 min of HV that ends abruptly with clear, sudden recognition and slowing of ventilatory rate that leads to restoration of normal ETCO2 in only a few breaths. The corresponding EMS patient care records (PCR) failed to document the presence, severity, and duration of HV. Conclusions: In a study emphasizing prevention of HV, subsequent evaluation of continuous ETCO2 data revealed many cases of unintentionally rapid manual ventilation and severe hypocapnia, often occurring for long periods. These findings, even in the face of explicit guideline-based training, demonstrate a clear need for routine access to continuous monitor data among intubated patients for quality improvement and in clinical studies. Review of PCRs does not reliably identify mismanagement of ventilation. Furthermore, these findings make it likely that real-time audiovisual feedback technology would improve ventilatory management by alerting providers to unidentified HV that results from the frequent distractions occurring during EMS care.
Misspelled Surname
Authors: Georgine Lamvu, Chensi Ouyang, Andrea Rapkin
Journal: JAMA (2021)

Julia A. Bielicki, PhD; Wolfgang Stöhr, PhD; Sam Barratt, MPH; David Dunn, PhD; Nishdha Naufal, BSc; Damian Roland, PhD; Kate Sturgeon, MSc; Adam Finn, PhD; Juan Pablo Rodriguez-Ruiz, MSc; Surbhi Malhotra-Kumar, PhD; Colin Powell, MD; Saul N. Faust, PhD; Anastasia E. Alcock, MBBS; Dani Hall, MA (Oxon); Gisela Robinson, MBBS; Daniel B. Hawcutt, MD; Mark D. Lyttle, MBChB; Diana M. Gibb, PhD; Mike Sharland, MD; PERUKI, GAPRUKI, and the CAP-IT Trial Group; Elizabeth Molyneux ; Chris C Butler; Alan Smyth; Catherine Prichard; Tim E.A Peto; Simon Cousens; Stuart Logan; Alasdair Bamford; Anna Turkova; Anna L Goodman; Felicity Fitzgerald; Paul S Little; Julie Robotham; Mandy Wan; Nigel Klein; Louise Rogers; Elia Vitale; Matthew Rotheram; Rachel Wright ; Elizabeth Lee; Udeme Ohia; Stuart Hartshorn; Deepthi Jyothish ; Juliet Hopkins; James G Ross; Poonam Patel; Hannah Fletcher; Kribashnie Nundlall; Jamie Carungcong; Rhian Bull; Nabila Burney; Patricia Correia Da Costa; Stefania Vergnano; Beth Walton; Alice Smith; Michelle Ross; Lucie Aplin; Sarah Sheedy; Gurnie Kaur; Jeff Morgan; Jennifer Muller; Gail Marshall; Godfrey Nyamugunduru; John C Furness; Dawn Eggington; Susannah J Holt; John Gibbs; Caroline Burchett; Caroline Lonsdale; Sarah De-Beger; Ronny Cheung; Alyce B Sheedy; Mohammad Ahmad; Zoe Stockwell; Sarah Giwa; Arshid Murad; Katherine Jerman; Joanna Green; Chris Bird; Tanya K Z Baron; Shelley Segal; Sally Beer; Maria Jose Garcia Garcia; Dom Georgiou; Kirsten Beadon; Jose Martinez; Fleur Cantle; Hannah Eastman; Paul Riozzi; Hannah Cotton; Niall Mullen; Rhona McCrone; Paul Corrigan; Gemma Salt; Louise Fairlie; Andrew Smith; Lizzie Starkey; Mel Hayman; Sean O'Riordan; Alice Downes; Majorie Allen; Louise Turner; Donna Ellis; Srini Bandi; Rekha Patel; Chris Gough; Megan McAulay; Louise Conner; Sharryn Gardner; Zena Haslam; Moira Morrison; Michael J Barrett; Madeleine Niermeyer; Ellen Barry; Emily K Walton; Akshat Kapur; Vivien Richmond; Steven J Foster; RM Bland; Ashleigh Neil; Barry Milligan; Helen Bannister; Ben Bloom; Ami Parikh; Imogen Skene; Helen Power; Olivia Boulton; Raine Astin-Chamberlain; David Smith; Jonathon Walters; Daniel Martin; Lyrics Noba; Katherine Potier; Fiona Borland; Jill Wilson; Zainab Suleman; Judith Gilchrist; Noreen West; Jayne Evans; Juliet Morecombe; Paul T Heath; Yasser Iqbal; Malte Kohns Vasconcelos; Elena Stefanova; Claire Womack; Ian K Maconochie; Suzanne Laing; Rikke Jorgensen; Maggie Nyirenda; Sophie Keers; Samia Pilgrim; Emma Gardiner; Katrina Cathie; Jane Bayreuther; Ruth Ensom; Emily K Cornish; Elizabeth-Jayne L Herrieven; William Townend; Leanne Sherris; Paul Williams
CTNI-50. REGORAFENIB IN RECURRENT GLIOBLASTOMA PATIENTS: A LARGE REAL-LIFE EXPERIENCE
Authors: Mario Caccese, Giulia Cerretti, Marta Padovan, Vittorina Zagonel, Giuseppe Lombardi
Journal: Neuro-Oncology (2021)

Abstract INTRODUCTION Regorafenib (REG), an oral multikinase inhibitor, showed benefit in recurrent GBM (recGBM) patients in the REGOMA trial. We investigated the clinical outcome and safety of REG in a real-life population of recGBM patients treated at Veneto Institute of Oncology as off-label use. MATERIAL AND METHODS Patients receiving REG were entered prospectively on a clinical database. Data were retrospectively analyzed. The primary endpoints were overall survival (OS) and safety. The major inclusion criteria were: histologically confirmed diagnosis of GBM, disease progression by RANO criteria after Stupp protocol, ECOG PS ≤ 2. Patients received REG 160 mg per day for the first 3 weeks in a 4-week cycle. Kaplan-Meier method was used to estimate the survival, RANO criteria for radiological assessment, CTCAE v5.0 for drug related adverse events. RESULTS 54 patients were enrolled: median age was 56, ECOG PS 0-1 in 91%, MGMTmet in 53%, second surgery at the time of relapse in 30%. Median follow-up was 11.1ms, 30 PTS (56%) had died and 50 PTS (93%) had progressed. MedianOS was 10.2 ms (95%CI, 6.4-13.9), 12m-OS was 43%; medianPFS was 2.3 ms (95%CI, 1.3-3.3) and 6m-PFS was 18%. Disease control rate (DCR) was 46.3%; stable disease was reported in 38.8% and partial response in 7.4%. Age, MGMT and corticosteroid use at baseline were not statistically significant on multivariate analysis for OS. Grade 3 drug-related adverse events (AEs) occurred in 10 patients (18%) and the most frequent were hand-foot skin reaction, asthenia and increased lipase and transaminases; 1 PT(2%) reported a grade 4 AE (rash maculo-papular). AEs led to REG dose reductions in 37% of patients and, it was permanently discontinued in 5%. CONCLUSIONS We reported a “real-world” experience of REG in recGBM patients. Results are close to those reported in REGOMA trial; we showed a longer OS. Toxicity was manageable. Encouraging clinical benefits of REG in recGBM population were confirmed.
Pupillary Light–Near Dissociation
Authors: Emanuele La Corte, Matteo Martinoni
Journal: New England Journal of Medicine (2021)

A 37-year-old man presented to the neurosurgery clinic with diplopia, upward gaze palsy, and headache. He was found to have pupillary light–near dissociation on examination, as seen on a video. A midbrain lesion was seen on MRI, and biopsy showed a nonsecreting germinoma.
Abstract 17081: End Stage Mitochondrial Cardiomyopathy And Heart Transplantation Due To Pathogenic Biallelic C1QBP Variants
Authors: Nicholas S Wilcox, Stuart Prenner, Marisa Cevasco, Courtney Condit, Amy Goldstein, James T Peterson, Anjali T Owens, Janice Pieretti, Theodore Drivas, Nosheen Reza
Journal: Circulation (2021)

Case Presentation: A 29-year-old male with LVH diagnosed in childhood was admitted with acute HF. TTE showed LVEF 5-10% and LV thrombi for which he was anticoagulated. He received inappropriate ICD shocks due to T wave oversensing, leading to cardiogenic shock requiring VA-ECMO support. Serum lactate peaked at 17 mmol/L due to cardiac and metabolic decompensation. He underwent heart transplantation (HT) on hospital day (HD) 8 and tolerated standard immunosuppression. First endomyocardial biopsy showed acute cellular rejection requiring pulse steroids. He was discharged on HD 33. Trio whole exome and mitochondrial genome sequencing revealed biallelic variants in complement component 1Q subcomponent-binding protein ( C1QBP ), due to a maternally inherited likely pathogenic variant c.612C&gt;G (p.F204L in exon 5) and an apparently de novo deletion of 17p13.2, spanning exons 4-6 of C1QBP and exon 6 of the RPAIN gene. Mitochondrial genome sequencing of the explanted heart revealed multiple large-scale mitochondrial DNA deletions at 33% heteroplasmy. Discussion: C1QBP variants are associated with mitochondrial and multi-organ dysfunction. Only 12 patients exhibiting biallelic C1QBP variants are reported. Four died in the peripartum period due to fetal hydrops or HF; 5 exhibited early-onset cardiomyopathy (CM); 3 others had late-onset ophthalmoplegia without CM. The p.F204L variant has been reported in 1 patient with compound C1QBP p.F204L/p.C186S heterozygosity who died from hydrops fetalis and a second with p.F204L homozygosity with late-onset ophthalmoplegia and skeletal myopathy without CM. Differences in the size, heteroplasmy, and tissue distribution of mitochondrial genome secondary deletions may explain variability in disease onset and progression. We present the first patient with biallelic pathogenic C1QBP gene variants with mitochondrial CM to undergo HT and highlight the diagnosis and management of an exceptionally uncommon genetic disorder.
Obinutuzumab plus lenalidomide in advanced, previously untreated follicular lymphoma in need of systemic therapy: a LYSA study
Authors: Emmanuel Bachy, Roch Houot, Pierre Feugier, Krimo Bouabdallah, Reda Bouabdallah, Emmanuelle Nicolas Virelizier, Marie Maerevoet, Christophe Fruchart, Sylvia Snauwaert, Steven Le Gouill, Jean-Pierre Marolleau, Lysiane Molina, Cécile Moluçon-Chabrot, Catherine Thieblemont, Hervé Tilly, Fontanet Bijou, Corinne Haioun, Eric Van den Neste, Bettina Fabiani, Michel Meignan, Guillaume Cartron, Gilles Salles, Olivier Casasnovas, Franck Morschhauser
Journal: Blood (2021)
Abstract 11119: Real-Time Nanopore Sequencing for Bacterial Pneumonia After Out-of-Hospital Cardiac Arrest, a Pilot Proof-of-Concept Study
Authors: Alexandra Weissman, Mariam Bramah Lawani, Thomas Z. Rohan, Clifton W CALLAWAY
Journal: Circulation (2021)

Introduction: Pneumonia is common after OHCA but is difficult to diagnose in the first 72 hours following ROSC, this results in early untargeted antibiotic administration based on non-specific imaging and laboratory findings. Antibiotic resistance is rising, is influenced by untargeted antibiotic administration, and can increase patient morbidity and mortality as well as healthcare costs. Precision methods of bacterial pathogen detection in OHCA patients are needed to improve patient care. This proof-of-concept pilot study aimed to assess feasibility of bacterial pathogen sequencing and comparability of sequencing results to clinical culture after OHCA. Methods: Blood and bronchoalveolar lavage (BAL) were obtained from residual clinical specimens collected within 12 hours of ROSC. Bacterial DNA was extracted using the Qiagen PowerLyzer PowerSoil DNA kit, sequenced using the MinION nanopore sequencer, and analyzed with Oxford Nanopore Technologies’ EPI2ME bioinformatics software. Sequencing results were compared to culture results using McNemar’s chi-square statistic. Study-defined pneumonia was based on presence of at least two characteristics within 72 hours of ROSC: fever (temperature ≥38°C); persistent leukocytosis &gt;15,000 or leukopenia &lt;3,500 for 48 hours; persistent chest radiography infiltrates for 48 hours per clinical radiology read; bacterial pathogen cultured. Results: We enrolled 38 consecutive OHCA subjects: mean age 61.8 years (18.0); 16 (42%) female; 25 (66%) White, 7 (18%) Black, 6 (16%) “Other” race; 7 subjects (18%) survived and 31 (82%) died; 16 (42%) subjects had pneumonia. Sequencing results were available in 12 hours while culture results were available in 48-72 hours after collection. There was a non-significant difference in the proportion of the same pathogens identified for each method per McNemar’s chi-square: p = 0.38, difference of 0.095 (-0.095, 0.286). Conclusions: Nanopore sequencing detects pathogenic bacteria comparable to clinical microbiologic culture and in less time. This technology can produce a paradigm shift in early bacterial pathogen detection in OHCA survivors, which can improve patient care. The technology is applicable to other patient populations and for viral and fungal pathogens.
Device-measured physical activity, adiposity and mortality: a harmonised meta-analysis of eight prospective cohort studies
Authors: Jakob Tarp, Morten W Fagerland, Knut Eirik Dalene, Jostein Steene Johannessen, Bjørge H Hansen, Barbara J Jefferis, Peter H Whincup, Keith M Diaz, Steven Hooker, Virginia J Howard, Ariel Chernofsky, Martin G Larson, Nicole L Spartano, Ramachandran S Vasan, Ing-Mari Dohrn, Maria Hagströmer, Charlotte Edwardson, Thomas Yates, Eric J Shiroma, Paddy C Dempsey, Katrien Wijndaele, Sigmund A Anderssen, I-Min Lee, Ulf Ekelund
Journal: British Journal of Sports Medicine (2021)

The joint associations of total and intensity-specific physical activity with obesity in relation to all-cause mortality risk are unclear.
The efficacy of singing <i>versus</i> exercise training: do the data really support the authors’ conclusions?
Authors: Anouk W. Vaes, Martijn A. Spruit, Frits M.E. Franssen, Alex J. van ’t Hul, Chris Burtin, Rainer Gloeckl, Sarah Houben-Wilke
Journal: European Respiratory Journal (2021)

With great interest we read the article by Kaasgaard et al . [1], entitled "Use of Singing for Lung Health as an alternative training modality within pulmonary rehabilitation for COPD: a randomised controlled trial". Earlier studies already suggested that singing may improve health status, respiratory muscle strength and functional exercise capacity, although quality of evidence was often low and conflicting findings exist [2]. In this randomised controlled trial, a singing programme ("Singing for Lung Health") was compared with conventional exercise training as part of a 10-week community-based pulmonary rehabilitation programme in patients with COPD. Based on their findings, the authors concluded that a singing programme was not inferior to an exercise training programme in improving functional exercise capacity. However, there are several methodological issues, which we would like to highlight, to frame these somewhat surprising results. The efficacy of singing versus exercise training: methodological issues may explain the surprising results <https://bit.ly/3qMrInS>
Dapagliflozin in patients with COVID-19: mind the kidneys – Authors' reply
Authors: Mikhail N Kosiborod, Russell Esterline, Jan Oscarsson, Samvel B Gasparyan, Remo H M Furtado, Subodh Verma, Otavio Berwanger
Journal: The Lancet Diabetes & Endocrinology (2021)
Report of Health Care Provider Recommendation for COVID-19 Vaccination Among Adults, by Recipient COVID-19 Vaccination Status and Attitudes — United States, April–September 2021
Authors: Kimberly H. Nguyen, David Yankey, Peng-jun Lu, Jennifer L. Kriss, Noel T. Brewer, Hilda Razzaghi, Mehreen Meghani, Brian J. Manns, James T. Lee, James A. Singleton
Journal: MMWR Morbidity and Mortality Weekly Report (2021)

Vaccination is critical to controlling the COVID-19 pandemic, and health care providers play an important role in achieving high vaccination coverage (1). To examine the prevalence of report of a provider recommendation for COVID-19 vaccination and its association with COVID-19 vaccination coverage and attitudes, CDC analyzed data among adults aged ≥18 years from the National Immunization Survey-Adult COVID Module (NIS-ACM), a nationally representative cellular telephone survey. Prevalence of report of a provider recommendation for COVID-19 vaccination among adults increased from 34.6%, during April 22-May 29, to 40.5%, during August 29-September 25, 2021. Adults who reported a provider recommendation for COVID-19 vaccination were more likely to have received ≥1 dose of a COVID-19 vaccine (77.6%) than were those who did not receive a recommendation (61.9%) (adjusted prevalence ratio [aPR] = 1.12). Report of a provider recommendation was associated with concern about COVID-19 (aPR = 1.31), belief that COVID-19 vaccines are important to protect oneself (aPR = 1.15), belief that COVID-19 vaccination was very or completely safe (aPR = 1.17), and perception that many or all of their family and friends had received COVID-19 vaccination (aPR = 1.19). Empowering health care providers to recommend vaccination to their patients could help reinforce confidence in, and increase coverage with, COVID-19 vaccines, particularly among groups known to have lower COVID-19 vaccination coverage, including younger adults, racial/ethnic minorities, and rural residents.