tbuckley/cabot-search huggingface dataset:
Improvements in Awareness and Testing Have Led to a Threefold Increase Over 10 Years in the Identification of Monogenic Diabetes in the U.K.
Authors: Lewis Pang, Kevin C. Colclough, Maggie H. Shepherd, Joanne McLean, Ewan R. Pearson, Sian Ellard, Andrew T. Hattersley, Beverley M. Shields
Journal: Diabetes Care (2022)

OBJECTIVE Maturity-onset diabetes of the young (MODY) is a rare monogenic form of diabetes. In 2009, &amp;gt;80% of U.K. cases were estimated to be misdiagnosed. Since then, there have been a number of initiatives to improve the awareness and detection of MODY, including education initiatives (Genetic Diabetes Nurse [GDN] project), the MODY probability calculator, and targeted next-generation sequencing (tNGS). We examined how the estimated prevalence of MODY and other forms of monogenic diabetes diagnosed outside the neonatal period has changed over time and how the initiatives have impacted case finding. RESEARCH DESIGN AND METHODS U.K. referrals for genetic testing for monogenic diabetes diagnosed &amp;gt;1 year of age from 1 January 1996 to 31 December 2019 were examined. Positive test rates were compared for referrals reporting GDN involvement/MODY calculator use with those that did not. RESULTS A diagnosis of monogenic diabetes was confirmed in 3,860 individuals, more than threefold higher than 2009 (1 January 1996 to 28 February 2009, n = 1,177). Median age at diagnosis in probands was 21 years. GDN involvement was reported in 21% of referrals; these referrals had a higher positive test rate than those without GDN involvement (32% vs. 23%, P &amp;lt; 0.001). MODY calculator usage was indicated in 74% of eligible referrals since 2014; these referrals had a higher positive test rate than those not using the calculator (33% vs. 25%, P = 0.001). Four hundred ten (10.6%) cases were identified through tNGS. Monogenic diabetes prevalence was estimated to be 248 cases/million (double that estimated in 2009 because of increased case finding). CONCLUSIONS Since 2009, referral rates and case diagnosis have increased threefold. This is likely to be the consequence of tNGS, GDN education, and use of the MODY calculator.
Marriages
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
Atezolizumab with enzalutamide versus enzalutamide alone in metastatic castration-resistant prostate cancer: a randomized phase 3 trial
Authors: Thomas Powles, Kobe C. Yuen, Silke Gillessen, Edward E. Kadel, Dana Rathkopf, Nobuaki Matsubara, Charles G. Drake, Karim Fizazi, Josep M. Piulats, Piotr J. Wysocki, Gary L. Buchschacher, Boris Alekseev, Begoña Mellado, Bogusława Karaszewska, Jennifer F. Doss, Grozdana Rasuo, Asim Datye, Sanjeev Mariathasan, Patrick Williams, Christopher J. Sweeney
Journal: Nature Medicine (2022)
Abstract 196: Development and Validation of Machine Learning-based Race-specific Models to Predict 10-year Risk of Heart Failure: A Multi-cohort Analysis
Authors: Matthew W Segar, Byron Jaeger, Kershaw V Patel, Vijay Nambi, Chiadi E Ndumele, Adolfo Correa, Javed Butler, Alvin Chandra, Colby Ayers, Laura M Raffield, Carlos J Rodriguez, Erin D Michos, Christie M Ballantyne, Michael E Hall, Robert J Mentz, James A De Lemos, Ambarish Pandey
Journal: Circulation (2020)

Introduction: Heart failure (HF) risk and the underlying biological risk factors vary by race. Machine learning (ML) may improve race-specific HF risk prediction but this has not been fully evaluated. Methods: The study included participants from 4 cohorts (ARIC, DHS, JHS, and MESA) aged &gt; 40 years, free of baseline HF, and with adjudicated HF event follow-up. Black adults from JHS and white adults from ARIC were used to derive race-specific ML models to predict 10-year HF risk. The ML models were externally validated in subgroups of black and white adults from ARIC (excluding JHS participants) and pooled MESA/DHS cohorts and compared to prior established HF risk scores developed in ARIC and MESA. Harrell’s C-index and Greenwood-Nam-D’Agostino chi-square were used to assess discrimination and calibration, respectively. Results: In the derivation cohorts, 288 of 4141 (7.0%) black and 391 of 8242 (4.7%) white adults developed HF over 10 years. The ML models had excellent discrimination in both black and white participants (C-indices = 0.88 and 0.89). In the external validation cohorts for black participants from ARIC (excluding JHS, N = 1072) and MESA/DHS pooled cohorts (N = 2821), 131 (12.2%) and 115 (4.1%) developed HF. The ML model had adequate calibration and demonstrated superior discrimination compared to established HF risk models (Fig A). A consistent pattern was also observed in the external validation cohorts of white participants from the MESA/DHS pooled cohorts (N=3236; 100 [3.1%] HF events) (Fig A). The most important predictors of HF in both races were NP levels. Cardiac biomarkers and glycemic parameters were most important among blacks while LV hypertrophy and prevalent CVD and traditional CV risk factors were the strongest predictors among whites (Fig B). Conclusions: Race-specific and ML-based HF risk models that integrate clinical, laboratory, and biomarker data demonstrated superior performance when compared to traditional risk prediction models.
Awards, Appointments, Announcements
Journal: JNCI Journal of the National Cancer Institute (1990)

Awards, Appointments, Announcements JNCI: Journal of the National Cancer Institute, Volume 82, Issue 22, 21 November 1990, Pages 1744–1745, https://doi.org/10.1093/jnci/82.22.1744 Published: 21 November 1990
Cataract surgery
Authors: A. R. Holder
Journal: JAMA (1971)

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
Simple Water Test.
Journal: JAMA (1892)

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
Stimulation of arteriogenesis in WHHL rabbits via continuous infusion of MCP-1 Niels Van Royen, Imo Hoefer, Sawa Kostin, Ivo Buschmann, Keisuke Suzuki, Michiel Voskuil, Christoph Bode, Jan Piek, Wolfgang Schaper. Max Planck Institute, Bad Nauheim, Germany, Academic Medical Center, Amsterdam, The Netherlands
Journal: Journal of the American College of Cardiology (2001)
Obesity, Adipose Tissue and Vascular Dysfunction
Authors: Mascha Koenen, Michael A. Hill, Paul Cohen, James R. Sowers
Journal: Circulation Research (2021)

Cardiovascular diseases are the leading cause of death worldwide. Overweight and obesity are strongly associated with comorbidities such as hypertension and insulin resistance, which collectively contribute to the development of cardiovascular diseases and resultant morbidity and mortality. Forty-two percent of adults in the United States are obese, and a total of 1.9 billion adults worldwide are overweight or obese. These alarming numbers, which continue to climb, represent a major health and economic burden. Adipose tissue is a highly dynamic organ that can be classified based on the cellular composition of different depots and their distinct anatomical localization. Massive expansion and remodeling of adipose tissue during obesity differentially affects specific adipose tissue depots and significantly contributes to vascular dysfunction and cardiovascular diseases. Visceral adipose tissue accumulation results in increased immune cell infiltration and secretion of vasoconstrictor mediators, whereas expansion of subcutaneous adipose tissue is less harmful. Therefore, fat distribution more than overall body weight is a key determinant of the risk for cardiovascular diseases. Thermogenic brown and beige adipose tissue, in contrast to white adipose tissue, is associated with beneficial effects on the vasculature. The relationship between the type of adipose tissue and its influence on vascular function becomes particularly evident in the context of the heterogenous phenotype of perivascular adipose tissue that is strongly location dependent. In this review, we address the abnormal remodeling of specific adipose tissue depots during obesity and how this critically contributes to the development of hypertension, endothelial dysfunction, and vascular stiffness. We also discuss the local and systemic roles of adipose tissue derived secreted factors and increased systemic inflammation during obesity and highlight their detrimental impact on cardiovascular health.
Safety and clinical value of TEE imaging with continuous in situ probe during direct current cardioversion of atrial fibrillation/flutter Can Hasdemir, Krishnaswamy Chandrasekaran, Muddasir A. Shah, Suresh Chandrasekaran, Naji E. Karam, Chittur A. Sivaram, Ralph Lazzara. University of Oklahoma Health Sciences Center, Oklahoma City, OK
Journal: Journal of the American College of Cardiology (2001)
Ambition fuels human genome research
Authors: R. Voelker
Journal: JAMA (1994)

IN ITS BRIEF life span, the Human Genome Project has established a track record that many commercial industries might envy. After 4 years, the ambitious international effort to map the estimated 100 000 genes in the human body is ahead of schedule and under budget. "We now have a very good human genetic map," says Francis Collins, MD, PhD, director of the National Center for Human Genome Research (NCHGR), Bethesda, Md. The project isn't scheduled for completion until 2005. But Collins says one interim goal has been surpassed. A genetic linkage map with an average spacing of 2 to 5 centimorgans between user-friendly, highly polymorphic markers wasn't expected until the end of 1995. Not only have scientists constructing the map beat the deadline, Collins says the quality of their product is better than expected. "It's fivefold better in the density of the markers." Genetic linkage maps show the relative positions
Survival outcome and treatment response of patients with young-onset locally advanced rectal cancer (YO-LARC) receiving total neoadjuvant therapy (TNT).
Authors: Edward McKenna, Carolyn Oxencis, Marie Parish, Daniel Eastwood, James Miller, Aditya V. Shreenivas, Mandana Kamgar, Ben George, William A. Hall, Beth Erickson, Kirk A. Ludwig, Aniko Szabo, James P. Thomas, Sakti Chakrabarti
Journal: Journal of Clinical Oncology (2022)

44 Background: Despite an alarming rise in incidence, data on survival outcome and treatment response of young-onset (age &lt; 50 years) locally advanced rectal cancer (YO-LARC) patients receiving total neoadjuvant therapy (TNT) are sparse. We retrospectively compared the outcome between YO-LARC and later-onset (aged 50 years or older) LARC (LO-LARC) patients treated with TNT. Methods: After the institutional review board approval, electronic medical records of the LARC (T3/T4 or node-positive) patients treated with TNT at a tertiary care cancer center between January 1, 2015, and June 30, 2020, were reviewed for data collection. TNT consisted of systemic chemotherapy with oxaliplatin-based regimens for 16 weeks followed by long-course radiation with concurrent capecitabine or 5-fluorouracil (CRT). Patients receiving only preoperative CRT were excluded. Most patients underwent surgical resection following the TNT. Non-operative management was offered to patients if TNT resulted in clinical complete response (cCR). The following comparisons between the YO-LARC and the LO-LARC patients were performed: patient characteristics, pathological complete response (pCR) rate, combined pCR + cCR rate, disease-free survival (DFS), and overall survival (OS). Results: Of 72 patients included in the analysis, 44(61%) were male, 49 (68%) were Caucasian, and 62 (86%) had clinical stage III disease. The study included 26 (36%) patients with YO-LARC (median age, 43 years) and 46 (64%) patients with LO-LARC (median age, 64 years). The comparison of patient characteristics that included gender, clinical stage, baseline carcinoembryonic antigen level, the distance of the tumor from the anal verge, presence of high-risk features, and histologic grade did not differ significantly between the groups. There were no statistically significant differences in pCR and combined pCR+cCR rates (p = 0.16) between the groups: YO-LARC, 12 % (3/26) and 15 % (4/26), respectively; LO-LARC, 22% (10/46) and 30% (14/46), respectively. Either group did not reach median DFS and OS after a median follow-up of 38 months for survivors. The estimated 5-year OS rates in patients with YO-LARC and LO-LARC were 86 % (95% confidence interval [CI], 69% to 100%) and 84% (95% CI, 68% to 100%), respectively (p = 0.92). The estimated 3-year DFS rates in patients with YO-LARC and LO-LARC were 67 % (95% CI, 50% to 89%) and 83% (95% CI, 72% to 95%), respectively (p = 0.19). Conclusions: The current retrospective analysis did not demonstrate significant differences in the pCR rates, combined pCR +cCR rates, DFS, or OS between the YO-LARC and LO-LARC patients treated with TNT.
Does electron beam computed tomography add incremental value to pretest likelihood in predicting abnormal myocardial perfusion single photon emission computed tomography (SPECT) in asymptomatic patients? Romalisa S. Miranda, Enrique F. Schisterman, Daniel S. Berman, Howard C. Lewin, Sean W. Hayes, John D. Friedman, Ishac Cohen, Amy M. Gallagher, Guido Germano. Cedars-Sinai Medical Center, Los Angeles, CA
Journal: Journal of the American College of Cardiology (2001)
2015 ACC/AHA/HRS Guideline for the Management of Adult Patients With Supraventricular Tachycardia: Executive Summary
Authors: Richard L. Page, José A. Joglar, Mary A. Caldwell, Hugh Calkins, Jamie B. Conti, Barbara J. Deal, N.A. Mark Estes, Michael E. Field, Zachary D. Goldberger, Stephen C. Hammill, Julia H. Indik, Bruce D. Lindsay, Brian Olshansky, Andrea M. Russo, Win-Kuang Shen, Cynthia M. Tracy, Sana M. Al-Khatib
Journal: Journal of the American College of Cardiology (2015)
Needle-free jet injector produces greater gene expression by naked plasmid DNA in rabbit hindlimb muscles compared to the needle method Hiromi Nishimura, Marianne Kearney, Marcy Silver, David Opie, Robert C. Glines, Diane L. Demarais, Jeffrey M. Isner. St. Elizabeth's Medical Center, Boston, MA
Journal: Journal of the American College of Cardiology (2001)
LETTER FROM NEW YORK.
Authors: None P. B. P.
Journal: JAMA (1889)

(FROM OUR REGULAR CORRESPONDENT.) Laparotomy in Pyosalpinx— The Digestive Ferments. At the last meeting of the Section on Obstetrics and Gynecology of the Academy of Medicine Dr. H. J. Boldt made a strong plea in favor of<i>Laparotomy in Pyosalpinx</i>, on account of the danger of fatal septic peritonitis resulting from rupture of the distended tube; and, in case of the occurrence of general peritonitis, of opening and thoroughly washing out the abdominal cavity at the earliest possible moment. The subject of his paper was the " Treatment of Suppurative Disease of the Uterine Appendages," and he said that cases of such disease might be roughly divided into three groups: 1, those in which an operation is altogether unjustifiable; 2, those in which it is the wiser course to keep the patient under treatment for a time, in order to observe what benefit may thus be derived, before finally deciding as
Errors in Tables 1 and 2
Journal: JAMA Network Open (2021)

Association of Social and Economic Inequality With CoronavirusDisease 2019 Incidence and Mortality Across US Counties," 1 published January 20, 2021, there was an inconsistency in the presentation of data between Tables 1 and2.The data in Table 2 regarding population aged younger than 20 years, population aged 70 years or older, and population density should have been calculated using the same measurement units as in Table 1.Table 1 has also been amended to fix incorrect values that were given for population density.This article has been corrected.
Notch‐triggered maladaptation of liver sinusoidal endothelium aggravates nonalcoholic steatohepatitis through endothelial nitric oxide synthase
Authors: Zhi‐Qiang Fang, Bai Ruan, Jing‐Jing Liu, Juan‐Li Duan, Zhen‐Sheng Yue, Ping Song, Hao Xu, Jian Ding, Chen Xu, Guo‐Rui Dou, Lin Wang
Journal: Hepatology (2022)

Abstract Background and Aims Although NASH can lead to severe clinical consequences, including cirrhosis and hepatocellular carcinoma, no effective treatment is currently available for this disease. Increasing evidence indicates that LSECs play a critical role in NASH pathogenesis; however, the mechanisms involved in LSEC‐mediated NASH remain to be fully elucidated. Approach and Results In the current study, we found that LSEC homeostasis was disrupted and LSEC‐specific gene profiles were altered in methionine–choline‐deficient (MCD) diet‐induced NASH mouse models. Importantly, Notch signaling was found to be activated in LSECs of NASH mice. To then investigate the role of endothelial Notch in NASH progression, we generated mouse lines with endothelial‐specific Notch intracellular domain (NICD) overexpression or RBP‐J knockout to respectively activate or inhibit Notch signaling in endothelial cells. Notably, endothelial‐specific overexpression of the NICD accelerated LSEC maladaptation and aggravated NASH, whereas endothelial cell–specific inhibition of Notch signaling restored LSEC homeostasis and improved NASH phenotypes. Furthermore, we demonstrated that endothelial‐specific Notch activation exacerbated NASH by inhibiting endothelial nitric oxide synthase (eNOS) transcription, whereas administration of the pharmacological eNOS activator YC‐1 alleviated hepatic steatosis and lipid accumulation resulting from Notch activation. Finally, to explore the therapeutic potential of using Notch inhibitors in NASH treatment, we applied two gamma‐secretase inhibitors—DAPT and LY3039478—in an MCD diet‐induced mouse model of NASH, and found that both inhibitors effectively ameliorated hepatic steatosis, inflammation, and liver fibrosis. Conclusions Endothelial‐specific Notch activation triggered LSEC maladaptation and exacerbated NASH phenotypes in an eNOS‐dependent manner. Genetic and pharmacological inhibition of Notch signaling effectively restored LSEC homeostasis and ameliorated NASH progression.
Location of eosinophils in the airway wall is critical for specific features of airway hyperresponsiveness and T2 inflammation in asthma
Authors: Taha Al-Shaikhly, Ryan C. Murphy, Andrew Parker, Ying Lai, Matthew C. Altman, Megan Larmore, William A. Altemeier, Charles W. Frevert, Jason S. Debley, Adrian M. Piliponsky, Steven F. Ziegler, Michael C. Peters, Teal S. Hallstrand
Journal: European Respiratory Journal (2022)

Background Eosinophils are implicated as effector cells in asthma, but the functional implications of the precise location of eosinophils in the airway wall is poorly understood. We aimed to quantify eosinophils in the different compartments of the airway wall and associate these findings with clinical features of asthma and markers of airway inflammation. Methods In this cross-sectional study, we utilised design-based stereology to accurately partition the numerical density of eosinophils in both the epithelial compartment and the subepithelial space (airway wall area below the basal lamina including the submucosa) in individuals with and without asthma and related these findings to airway hyperresponsiveness (AHR) and features of airway inflammation. Results Intraepithelial eosinophils were linked to the presence of asthma and endogenous AHR, the type that is most specific for asthma. In contrast, both intraepithelial and subepithelial eosinophils were associated with type 2 (T2) inflammation, with the strongest association between IL5 expression and intraepithelial eosinophils. Eosinophil infiltration of the airway wall was linked to a specific mast cell phenotype that has been described in asthma. We found that interleukin (IL)-33 and IL-5 additively increased cysteinyl leukotriene (CysLT) production by eosinophils and that the CysLT LTC 4 along with IL-33 increased IL13 expression in mast cells and altered their protease profile. Conclusions We conclude that intraepithelial eosinophils are associated with endogenous AHR and T2 inflammation and may interact with intraepithelial mast cells via CysLTs to regulate airway inflammation.