tbuckley/cabot-search huggingface dataset:
Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of <i>MUC5B</i>
Authors: Gregory Costain, Zhen Liu, Vito Mennella, Giorgia Radicioni, Adrienn N. Goczi, Alexandra Albulescu, Susan Walker, Bo Ngan, David Manson, Reza Vali, Meraj Khan, Nades Palaniyar, David B. Hill, David A. Hall, Christian R. Marshall, Michael Knowles, Maimoona A. Zariwala, Mehmet Kesimer, Sharon D. Dell
Journal: American Journal of Respiratory and Critical Care Medicine (2022)

Rationale: Mucin homeostasis is fundamental to airway health. Upregulation of airway mucus glycoprotein MUC5B is observed in diverse common lung diseases and represents a potential therapeutic target. In mice, Muc5b is required for mucociliary clearance and for controlling inflammation after microbial exposure. The consequences of its loss in humans are unclear. Objectives: The goal of this study was to identify and characterize a family with congenital absence of MUC5B protein. Methods: We performed whole-genome sequencing in an adult proband with unexplained bronchiectasis, impaired pulmonary function, and repeated Staphylococcus aureus infection. Deep phenotyping over a 12-year period included assessments of pulmonary radioaerosol mucociliary clearance. Genotyping with reverse phenotyping was organized for eight family members. Extensive experiments, including immunofluorescence staining and mass spectrometry for mucins, were performed across accessible sample types. Measurements and Main Results: The proband, and her symptomatic sibling who also had extensive sinus disease with nasal polyps, were homozygous for a novel splicing variant in the MUC5B gene (NM_002458.2: c.1938 + 1G>A). MUC5B was absent from saliva, sputum, and nasal samples. Mucociliary clearance was impaired in the proband, and large numbers of apoptotic macrophages were present in sputum. Three siblings heterozygous for the familial MUC5B variant were asymptomatic but had a shared pattern of mild lung function impairments. Conclusions: Congenital absence of MUC5B defines a new category of genetic respiratory disease. The human phenotype is highly concordant with that of the Muc5b-/- murine model. Further study of individuals with decreased MUC5B production could provide unique mechanistic insights into airway mucus biology.
Congenital Dislocation of the Hip.
Journal: JAMA (1910)

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 HomeNew OnlineCurrent IssueFor Authors 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) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More 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 journal
COVID-19: a time to reflect
Authors: None The Lancet Rheumatology
Journal: The Lancet Rheumatology (2020)

The world is six months into the COVID-19 pandemic, the global response to which is unprecedented in human history. But just as the pandemic has tightened borders, closed workplaces, and isolated people in their homes, scientific borders have been flung open and barriers torn down. Despite academic institutes and laboratories being shuttered worldwide, the urgency and pace of the pandemic has spawned a new era of scientific collaboration, open discourse, and efficiency. These collaborative efforts have included substantial input from rheumatologists—an eventuality that was mostly unanticipated in the early months of 2020.
COVID-19 vaccines: the pandemic will not end overnight
Authors: None The Lancet Microbe
Journal: The Lancet Microbe (2020)

"This is the weapon that is going to win the war", declared New York Governor Andrew Cuomo about severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccine BNT162b2 (Pfizer/BioNTech), as its tentative rollout begins in the UK, the USA, and Canada. A great achievement for sure, but this first step in what will need to be a global mass immunisation programme will not immediately end the COVID-19 pandemic. Although control over the infection's most harmful effects is expected and limiting its spread can be hoped for, it will likely be a few years before the virus can be brought under control worldwide.
Appendicitis in France and in America
Journal: JAMA (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 HomeNew OnlineCurrent IssueFor Authors 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) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More 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 journal
Society Proceedings
Journal: JAMA (1926)

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 HomeNew OnlineCurrent IssueFor Authors 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) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More 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 journal
Retraction—Chinese medical staff request international medical assistance in fighting against COVID-19
Authors: None The Editors of The Lancet Global Health
Journal: The Lancet Global Health (2020)

On Feb 26, 2020, we were informed by the authors of this Correspondence1Zeng Y Zhen Y Chinese medical staff request international medical assistance in fighting against COVID-19.Lancet Glob Health. 2020; (published online Feb 24.)https://doi.org/10.1016/S2214-109X(20)30065-6Crossref PubMed Scopus (17) Google Scholar that the account described therein was not a first-hand account, as the authors had claimed, and that they wished to withdraw the piece. We have therefore taken the decision to retract this Correspondence. RETRACTED: Chinese medical staff request international medical assistance in fighting against COVID-19On Jan 24, 2020, we came to Wuhan, China, to support the local nurses in their fight against the COVID-19 infection. We entered the Wuhan isolation ward as the first batch of medical aid workers from Guangdong Province, China. The daily work we are doing is mainly focused on provision of oxygen, electrocardiogram (ECG) monitoring, tube care, airway management, ventilator debugging, central venous intubation, haemodialysis care, and basic nursing care such as disposal and disinfection. Full-Text PDF Open Access
Evolution of Olfactory Receptors Tuned to Mustard Oils in Herbivorous Drosophilidae
Authors: Teruyuki Matsunaga, Carolina E Reisenman, Benjamin Goldman-Huertas, Philipp Brand, Kevin Miao, Hiromu C Suzuki, Kirsten I Verster, Santiago R Ramírez, Noah K Whiteman
Journal: Molecular Biology and Evolution (2021)

The diversity of herbivorous insects is attributed to their propensity to specialize on toxic plants. In an evolutionary twist, toxins betray the identity of their bearers when herbivores coopt them as cues for host-plant finding, but the evolutionary mechanisms underlying this phenomenon are poorly understood. We focused on Scaptomyza flava, an herbivorous drosophilid specialized on isothiocyanate (ITC)-producing (Brassicales) plants, and identified Or67b paralogs that were triplicated as mustard-specific herbivory evolved. Using in vivo heterologous systems for the expression of olfactory receptors, we found that S. flava Or67bs, but not the homologs from microbe-feeding relatives, responded selectively to ITCs, each paralog detecting different ITC subsets. Consistent with this, S. flava was attracted to ITCs, as was Drosophila melanogaster expressing S. flava Or67b3 in the homologous Or67b olfactory circuit. ITCs were likely coopted as olfactory attractants through gene duplication and functional specialization (neofunctionalization and subfunctionalization) in S. flava, a recently derived herbivore.
Current Medical Literature
Journal: JAMA (1923)

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 HomeNew OnlineCurrent IssueFor Authors 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) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More 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 journal
In-hospital outcome after stenting in women compared to men. Results from the registry of the Brazilian society of interventional cardiology: CENIC Amanda G. M. r. Sousa, Luiz A. P. Mattos, Marco A. Costa, Cantideo M. Campos Netto, Angela T. Paes, Jamil Saad, Andre Labrunie, Alexandre Abizaid, Roberto Botelho, Ronaldo Bueno, Eulogio Martinez, Pierre Labrunie, Carlos Gottchall, Costantino Constantini, J. Eduardo M. R. Sousa. Brazilian Society of Interventional Cardiology - CENIC, S�o Paulo, …
Journal: Journal of the American College of Cardiology (2001)
Errors in Statistical Results
Journal: JAMA Psychiatry (2021)

Richard A. Brown, PhD; Haruka Minami, PhD; Jacki Hecht, RN; Christopher W. Kahler, PhD; Lawrence H. Price, MD; Kimberly L. Kjome, MD; Erika Litvin Bloom, PhD; Douglas E. Levy, PhD; Kelly M. Carpenter, PhD; Ashleigh Smith, LCSW; Jasper A. J. Smits, PhD; Nancy A. Rigotti, MD
<i>Erratum:</i> Vol. 70, No. 13 Willingness to Receive a COVID-19 Vaccination Among Incarcerated or Detained Persons in Correctional and Detention Facilities — Four States, September–December 2020
Journal: MMWR Morbidity and Mortality Weekly Report (2021)

on page 467 in the first paragraph, the fourth sentence should have read, "Two days later, the roommate received a positive SARS-CoV-2 test result, becoming the first person with a known communityassociated case of COVID-19 at facility A."
Oncology
Authors: Emil J Freireich
Journal: JAMA (1980)

It has been estimated that each year more than 1 million Americans will be given diagnoses of cancer. The mortality from cancer, however, has decreased, particularly for persons younger than 30 years, but even among those younger than 45 years. Thus, the proportion of patients being cared for with a diagnosis of malignant disease continues to increase as a direct result of improved palliative therapy and a clear increase in the proportion of patients who are fully cured. This latter group has now been shown to have, among other medical problems, an enhanced risk of the development of a secondary malignant neoplasm.<sup>1</sup> The past decade has witnessed rapid advances in methods for early detection of cancer: xeromammography, computerized tomographic scanning, ultrasound, and tumor markers are only a few. In addition, of value to cancer prevention is the growing information on the association of carcinogenesis with the use of tobacco,
A High‐Throughput Distal Lung Air–Blood Barrier Model Enabled By Density‐Driven Underside Epithelium Seeding
Authors: Hannah Viola, Kendra Washington, Cauviya Selva, Jocelyn Grunwell, Rabindra Tirouvanziam, Shuichi Takayama
Journal: Advanced Healthcare Materials (2022)

Adv. Healthcare Mater. 2021, 10, 2100879 https://doi.org/10.1002/adhm.202100879 In the original version of this article, there were a number of mistakes. The overall results of the study and implications of the paper remain the same.
Detection of minimal residual disease (MRD) in colorectal cancer (CRC) patients UICC stage II/III by ultra-deep sequencing of cfDNA from post-surgery plasma.
Authors: Sylvie McNamara, Rajesh D. Patel, Hans-Peter Adams, Xueping Qu, Bernd Hinzmann, Cheryl V Wong, Gabrielle Heilek, Renè Mantke, Michael Heise, Thomas Steinmüller, Matthias Pross, Frank Marusch, Carlos Bais, John F. Palma
Journal: Journal of Clinical Oncology (2022)

26 Background: Detection of primary tumor mutations in cell-free DNA (cfDNA) of post-surgery plasma of patients with R0-resected not-metastasized solid tumors is a strong indicator of recurrence of disease. We explored whether ultra-deep sequencing of cfDNA could improve sensitivity and specificity with respect to time-to-progression. Methods: 84 CRC patients UICC stage II/III were recruited into the prospective, observational study “Molecular Signatures in Colorectal Cancer”. Matched tumor tissue samples, plasma depleted blood cells (PDBC), and cfDNA (drawn 1 to 34 days after R0-resection, median 7 days) were processed with the Roche AVENIO Tumor Tissue and ctDNA Surveillance Kits*. Samples of 79 patients passed all quality controls, in particular cfDNA was sequenced ultra-deep with a median of 180 Mio. instead of 50 Mio. reads/sample. Somatic variants were identified with AVENIO Oncology Analysis software 2.0*. PDBC informed germline variants were removed. If a tissue baseline variant was detected in cfDNA with a significant adjusted p-value, the patient was defined ctDNA+, and ctDNA- otherwise. Results: 8 ctDNA+ patients (28 variants, median AF = 0.15%) were identified of which 4 had a progression of disease at two years. Sensitivity was 44% (95% CI [0.137, 0.788]), specificity was 94% (95% CI [0.86, 0.984]), positive predictive value was 50% (95% CI [0.157, 0.843]), and negative predictive value was 93% (95% CI [0.843, 0.977]). Comparison of time-to-progression of ctDNA+ and ctDNA- patients using the log-rank test resulted in a p-value of 0.0058. Comparison of survival times of ctDNA+ and ctDNA- patients resulted in a p-value of 0.0333. Multivariate analyses of times-to-progression resulted in ctDNA-status (p = 0.0022, hazard ratio (HR) = 7.098) and neoadjuvant therapy (p = 0.0010, HR = 6.618) as significant parameters. Conclusions: Even in this small cohort of CRC UICC stage II/III patients, MRD detection in post-surgery plasma is the strongest predictor of shorter time to progression. Ultra-deep sequencing of cfDNA samples did not influence MRD detection on a patient-level. *for Research Use Only; not for use in diagnostic procedures.
7 Juvenile idiopathic arthritis
Authors: B FINCKH, I FOELDVARI, M MEHRWALD, D HUELSEBUS, A KOHLSCHÜTTER
Journal: Annals of the Rheumatic Diseases (2000)

# 7.1 Changes of antioxidative status and free radical damage in subsets of juvenile idiopathic arthritis (JIA) over a period of three months {#article-title-2} JIA is an inflammatory disease in which the role of free radicals has not yet been clarified. We recently showed a specific pattern of antioxidative status and free radical damage in subsets of JIA.1 We investigated whether this pattern is characteristic for subsets of disease or inflammatory activity. Patients (n=85) with JIA were seen consecutively in the paediatric rheumatology unit during one year and again after three months. The disease subsets were: oligoarticular juvenile rheumatoid arthritis (oJRA, n=54), polyarticular JRA (pJRA, n=3), systemic JRA (sJRA, n=4), spondyloarthritis (SA, n=18), and psoriatic arthritis (n=6). Patients with non-inflammatory joint pain served as controls (n=15). Erythrocyte sedimentation rate (ESR), in vitro radical resistance of erythrocytes (RRE), total radical trapping ability of plasma (TRAP), malondialdehyde as marker of lipid peroxidation, sulphydryl (SH) groups, and α-tocopherol as antioxidants were analysed in blood. According to the JIA subsets, the following differences were seen between the first and second visit: a decrease in the tender joint score in patients with oJRA (p<0.001) corresponding with an increase of α-tocopherol (p<0.05) and TRAP (p<0.01). All patients with JIA were stratified according to inflammatory disease activity into groups with low (<20 mm/1st h), medium (20–40 mm/1st h), and high ESR (>40 mm/1st h). The differences seen between these groups and controls during the first visit (increase of in vitro RRE (high ESR); and decrease in SH groups (medium ESR)) were not seen again during the second visit. The increase in antioxidative potential and simultaneous decrease of tender joint score in patients with oJRA underline the role of antioxidants in JIA. It remains to be elucidated whether the change of pattern according to inflammatory disease activity means that there is no characteristic reproducible pattern of antioxidative status and free radical damage in relation to inflammatory disease activity. 1. 1-1.(1999) Arthritis Rheum 42(suppl):S181, . [OpenUrl][1] # 7.2 Growth disturbances in patients with juvenile idiopathic arthritis (JIA): Has the prevalence changed? {#article-title-3} Previous studies have … [1]: {openurl}?query=rft.jtitle%253DArthritis%2BRheum%26rft.volume%253D42%26rft.spage%253DS181%26rft.genre%253Darticle%26rft_val_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Ajournal%26ctx_ver%253DZ39.88-2004%26url_ver%253DZ39.88-2004%26url_ctx_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Actx
Boosting NAD+ blunts TLR4-induced type I IFN in control and systemic lupus erythematosus monocytes
Authors: Jing Wu, Komudi Singh, Amy Lin, Allison M. Meadows, Kaiyuan Wu, Vivian Shing, Maximilian Bley, Shahin Hassanzadeh, Rebecca D. Huffstutler, Mark S. Schmidt, Luz P. Blanco, Rong Tian, Charles Brenner, Mehdi Pirooznia, Mariana J. Kaplan, Michael N. Sack
Journal: Journal of Clinical Investigation (2022)

BACKGROUNDFasting and NAD+-boosting compounds, including NAD+ precursor nicotinamide riboside (NR), confer antiinflammatory effects. However, the underlying mechanisms and therapeutic potential are incompletely defined.METHODSWe explored the underlying biology in myeloid cells from healthy volunteers following in vivo placebo or NR administration and subsequently tested the findings in vitro in monocytes extracted from patients with systemic lupus erythematosus (SLE).RESULTSRNA-Seq of unstimulated and LPS-activated monocytes implicated NR in the regulation of autophagy and type I IFN signaling. In primary monocytes, NR blunted LPS-induced IFN-β production, and genetic or pharmacological disruption of autophagy phenocopied this effect. Given that NAD+ is a coenzyme in oxidoreductive reactions, metabolomics was performed and identified that NR increased the inosine level. Inosine supplementation similarly blunted autophagy and IFN-β release. Finally, because SLE exhibits type I IFN dysregulation, we assessed the NR effect on monocytes from patients with SLE and found that NR reduced autophagy and IFN-β release.CONCLUSIONWe conclude that NR, in an NAD+-dependent manner and in part via inosine signaling, mediated suppression of autophagy and attenuated type I IFN in myeloid cells, and we identified NR as a potential adjunct for SLE management.TRIAL REGISTRATIONClinicalTrials.gov registration numbers NCT02812238, NCT00001846, and NCT00001372.FUNDINGThis work was supported by the NHLBI and NIAMS Intramural Research divisions.
Evaluating metallic artefact of biodegradable magnesium-based implants in magnetic resonance imaging
Authors: Jonathan Espiritu, Mostafa Berangi, Christina Yiannakou, Eduarda Silva, Roberto Francischello, Andre Kuehne, Thoralf Niendorf, Sören Könneker, Regine Willumeit-Römer, Jan-Marten Seitz
Journal: Bioactive Materials (2022)
Erratum
Journal: CA A Cancer Journal for Clinicians (2005)

The statement that read, "A total of 476,009 people under age 85 died from cancer in the United States in 2002 compared with 450,637 deaths from heart disease," was incorrect.The statement regarding the number of deaths from cancer and heart diseases in 2002 should read: "A total of 478,082 people under age 85 died from cancer in the United States in 2002 compared with 446,727 deaths from heart disease."The authors apologize for this error and any confusion it may have caused.
What is an MI? Prospective analysis of the diagnostic and progrostic impact of adding troponins to the definition of myocardial infarction Shaun Goodman, Jeanna Johnson, Cynthia Sullivan, Ph Gabriel Steg, Kim Eagle, Keith A. A. Fox, Jose Lopez-Sendon, Gilles Montalescot, Andrzej Budaj, Brian Kennelly, Joel Gore, for the GRACE Investigators. Canadian Heart Research Centre, Toronto, ON, Canada, Division of Cardiovascular Medicine, University of Massachusetts Medical School, Worcester, MA
Journal: Journal of the American College of Cardiology (2001)