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2. Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

Author

Pinto e Vairo, Filippo, Kemppainen, Jennifer L., Vitek, Carolyn R. Rohrer, Whalen, Denise A., Kolbert, Kayla J., Sikkink, Kaitlin J., Kroc, Sarah A., Kruisselbrink, Teresa, Shupe, Gabrielle F., Knudson, Alyssa K., Burke, Elizabeth M., Loftus, Elle C., Bandel, Lorelei A., Prochnow, Carri A., Mulvihill, Lindsay A., Thomas, Brittany, Gable, Dale M., Graddy, Courtney B., Garzon, Giovanna G. Moreno, Ekpoh, Idara U., Porquera, Eva M. Carmona, Fervenza, Fernando C., Hogan, Marie C., El Ters, Mireille, Warrington, Kenneth J., Davis, III, John M., Koster, Matthew J., Orandi, Amir B., Basiaga, Matthew L., Vella, Adrian, Kumar, Seema, Creo, Ana L., Lteif, Aida N., Pittock, Siobhan T., Tebben, Peter J., Abate, Ejigayehu G., Joshi, Avni Y., Ristagno, Elizabeth H., Patnaik, Mrinal S., Schimmenti, Lisa A., Dhamija, Radhika, Sabrowsky, Sonia M., Wierenga, Klaas J., Keddis, Mira T., Samadder, Niloy Jewel J., Presutti, Richard J., Robinson, Steven I., Stephens, Michael C., Roberts, Lewis R., Faubion, Jr., William A., Driscoll, Sherilyn W., Wong-Kisiel, Lily C., Selcen, Duygu, Flanagan, Eoin P., Ramanan, Vijay K., Jackson, Lauren M., Mauermann, Michelle L., Ortega, Victor E., Anderson, Sarah A., Aoudia, Stacy L., Klee, Eric W., McAllister, Tammy M., and Lazaridis, Konstantinos N.

Published
2024
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4. Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

Author

Pinto e Vairo, Filippo, Kemppainen, Jennifer L., Vitek, Carolyn R. Rohrer, Whalen, Denise A., Kolbert, Kayla J., Sikkink, Kaitlin J., Kroc, Sarah A., Kruisselbrink, Teresa, Shupe, Gabrielle F., Knudson, Alyssa K., Burke, Elizabeth M., Loftus, Elle C., Bandel, Lorelei A., Prochnow, Carri A., Mulvihill, Lindsay A., Thomas, Brittany, Gable, Dale M., Graddy, Courtney B., Garzon, Giovanna G. Moreno, Ekpoh, Idara U., Porquera, Eva M. Carmona, Fervenza, Fernando C., Hogan, Marie C., El Ters, Mireille, Warrington, Kenneth J., Davis, III, John M., Koster, Matthew J., Orandi, Amir B., Basiaga, Matthew L., Vella, Adrian, Kumar, Seema, Creo, Ana L., Lteif, Aida N., Pittock, Siobhan T., Tebben, Peter J., Abate, Ejigayehu G., Joshi, Avni Y., Ristagno, Elizabeth H., Patnaik, Mrinal S., Schimmenti, Lisa A., Dhamija, Radhika, Sabrowsky, Sonia M., Wierenga, Klaas J., Keddis, Mira T., Samadder, Niloy Jewel J., Presutti, Richard J., Robinson, Steven I., Stephens, Michael C., Roberts, Lewis R., Faubion, Jr., William A., Driscoll, Sherilyn W., Wong-Kisiel, Lily C., Selcen, Duygu, Flanagan, Eoin P., Ramanan, Vijay K., Jackson, Lauren M., Mauermann, Michelle L., Ortega, Victor E., Anderson, Sarah A., Aoudia, Stacy L., Klee, Eric W., McAllister, Tammy M., and Lazaridis, Konstantinos N.

Published
2023
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5. Patients with ACPA-positive and ACPA-negative rheumatoid arthritis show different serological autoantibody repertoires and autoantibody associations with disease activity

Author

Cunningham, Kevin Y., Hur, Benjamin, Gupta, Vinod K., Arment, Courtney A., Wright, Kerry A., Mason, Thomas G., Peterson, Lynne S., Bekele, Delamo I., Schaffer, Daniel E., Bailey, Marissa L., Delger, Kara E., Crowson, Cynthia S., Myasoedova, Elena, Zeng, Hu, Rodriguez, Moses, Weyand, Cornelia M., Davis, III, John M., and Sung, Jaeyun

Published
2023
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7. Clinical phenotype, NOD2 genotypes, and treatment observations in Yao syndrome: a retrospective case series.

Author

Williamson, Katrina A., Samec, Matthew J., Patel, Jenny A., Orandi, Amir B., Wang, Benjamin, Crowson, Cynthia S., Loftus Jr., Edward V., Alavi, Afsaneh, Moyer, Ann M., and Davis III, John M.

Subjects
DYSAUTONOMIA, MAST cells, SYMPTOMS, MEDICAL records, AGE of onset
Abstract

Objective: The aim of this study was to characterize the phenotype and genotype of patients with Yao syndrome (YAOS), with focus on comparing to prior cohorts, identifying novel features, and describing treatment observations. Methods: A retrospective medical records review of patients with YAOS seen at Mayo Clinic was conducted to characterize clinical features, NOD2 genotypes, and therapeutic trials and responses. Results: Twenty-two patients diagnosed with YAOS were included. Eighteen patients (81.8%) were female and twenty (90.9%) were White. Mean age at symptom onset was 24.0 ± 14.8 years. Common clinical manifestations included fever (81.8% of patients), rash (95.5%), chronic gastrointestinal symptoms (100%), arthralgia/arthritis (95.5%), and sicca symptoms (68.2%). NOD2 genotypes as single variants included IVS8 + 158 in 14 patients (63.6%), R702W in 8 patients (36.4%), 1007fs in 4 (18.2%), and one patient had only a previously unreported rare variant. Eight patients (36.4%) had compound (two or more) NOD2 variants. Potential comorbidities of YAOS observed in this cohort included gastrointestinal dysmotility, autonomic dysfunction, and mast cell activation-like symptoms. Glucocorticoid responsiveness was observed in 15 of 20 patients exposed (75%). Eleven patients (50.0%) received IL-1 inhibitor therapy, and one patient (4.5%) received IL-6 inhibitor therapy with adequate disease control. Conclusion: Our findings substantiate the occurrence of fevers, arthralgia/ arthritis, rash, chronic gastrointestinal symptoms, and sicca-like symptoms described previously in patients with YAOS. Novel clinical features and one NOD2 variant not previously described were identified. Glucocorticoids, biologic IL-1 inhibitors, and IL-6 receptor inhibitors appeared to be effective for treatment of patients with YAOS. [ABSTRACT FROM AUTHOR]

Published
2024
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20. Susceptibility of nucleotide-binding oligomerization domain 2 mutations to Whipple’s disease

Author

Williamson, Katrina A, primary, Yun, Mark, additional, Koster, Matthew J, additional, Arment, Courtney, additional, Patnaik, Asha, additional, Chang, Tara W, additional, Bledsoe, Adam C, additional, Sae-Tia, Sutthichai, additional, Shah, Aditya S, additional, Samuels, Jonathan, additional, Davis III, John M, additional, and Yao, Qingping, additional

Published
2023
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23. Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

Author

Vairo, Filippo Pinto e, primary, Kemppainen, Jennifer L., additional, Vitek, Carolyn R. Rohrer, additional, Whalen, Denise A., additional, Kolbert, Kayla J., additional, Sikkink, Kaitlin J., additional, Kroc, Sarah A., additional, Kruisselbrink, Teresa, additional, Shupe, Gabrielle F., additional, Knudson, Alyssa K., additional, Burke, Elizabeth M., additional, Loftus, Elle C., additional, Bandel, Lorelei A., additional, Prochnow, Carri A., additional, Mulvihill, Lindsay A., additional, Thomas, Brittany, additional, Gamble, Dale M., additional, Graddy, Courtney B., additional, Garzon, Giovanna G. Moreno, additional, Ekpoh, Idara U., additional, Porquera, Eva M. Carmona, additional, Fervenza, Fernando C., additional, Hogan, Marie C., additional, Ters, Mireille El, additional, Warrington, Kenneth J., additional, Davis, III John M., additional, Koster, Matthew J., additional, Orandi, Amir B., additional, Basiaga, Matthew L., additional, Vella, Adrian, additional, Kumar, Seema, additional, Creo, Ana L., additional, Lteif, Aida N., additional, Pittock, Siobhan T., additional, Tebben, Peter J., additional, Abate, Ejigayehu G., additional, Joshi, Avni Y., additional, Ristagno, Elizabeth H., additional, Patnaik, Mrinal S., additional, Schimmenti, Lisa A., additional, Dhamija, Radhika, additional, Sabrowsky, Sonia M., additional, Wierenga, Klaas J., additional, Keddis, Mira T., additional, Samadder, Niloy Jewel J., additional, Presutti, Richard J., additional, Robinson, Steven I., additional, Stephens, Michael C., additional, Roberts, Lewis R., additional, Faubion, William A., additional, Driscoll, Sherilyn W., additional, Wong-Kisiel, Lily C., additional, Selcen, Duygu, additional, Flanagan, Eoin P., additional, Ramanan, Vijay K., additional, Jackson, Lauren M., additional, Mauermann, Michelle L., additional, Ortega, Victor E., additional, Anderson, Sarah A., additional, Aoudia, Stacy L., additional, Klee, Eric W., additional, McAllister, Tammy M., additional, and Lazaridis, Konstantinos N., additional

Published
2023
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42. Hydroxychloroquine: a comprehensive review and its controversial role in coronavirus disease 2019.

Author

Bansal, Pankaj, Goyal, Amandeep, Cusick IV, Austin, Lahan, Shubham, Dhaliwal, Harpal S., Bhyan, Poonam, Bhattad, Pradnya Brijmohan, Aslam, Fawad, Ranka, Sagar, Dalia, Tarun, Chhabra, Lovely, Sanghavi, Devang, Sonani, Bhavin, and Davis III, John M.

Subjects
SARS-CoV-2, COVID-19, AUTOIMMUNE diseases, HYDROXYCHLOROQUINE, CORONAVIRUS diseases, SYSTEMIC lupus erythematosus
Abstract

Hydroxychloroquine, initially used as an antimalarial, is used as an immunomodulatory and anti-inflammatory agent for the management of autoimmune and rheumatic diseases such as systemic lupus erythematosus. Lately, there has been interest in its potential efficacy against severe acute respiratory syndrome coronavirus 2, with several speculated mechanisms. The purpose of this review is to elaborate on the mechanisms surrounding hydroxychloroquine. The review is an in-depth analysis of the antimalarial, immunomodulatory, and antiviral mechanisms of hydroxychloroquine, with detailed and novel pictorial explanations. The mechanisms of hydroxychloroquine are related to potential cardiotoxic manifestations and demonstrate potential adverse effects when used for coronavirus disease 2019 (COVID-19). Finally, current literature associated with hydroxychloroquine and COVID-19 has been analyzed to interrelate the mechanisms, adverse effects, and use of hydroxychloroquine in the current pandemic. Currently, there is insufficient evidence about the efficacy and safety of hydroxychloroquine in COVID-19. HCQ, initially an antimalarial agent, is used as an immunomodulatory agent for managing several autoimmune diseases, for which its efficacy is linked to inhibiting lysosomal antigen processing, MHC-II antigen presentation, and TLR functions. HCQ is generally well-tolerated although severe life-threatening adverse effects including cardiomyopathy and conduction defects have been reported. HCQ use in COVID-19 should be discouraged outside clinical trials under strict medical supervision. [ABSTRACT FROM AUTHOR]

Published
2021
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43. Distinct single cell gene expression in peripheral blood monocytes correlates with treatment response groups defined by type I interferon in rheumatoid arthritis

Author

Wampler Muskardin, Theresa, Fan, Wei, Jin, Zhongbo, Jensen, Mark, Dorschner, Jessica M, Ghodke, Yogita, Dicke, Betty, Vsetecka, Danielle, Wright, Kerry, Mason, Thomas, Persellin, Scott, Michet, Clement, Davis III, John M, Matteson, Eric, and Niewold, Timothy B

Abstract

Previously, we demonstrated that type I IFN (IFNβ/α) activity can predict non-response to tumor necrosis factor inhibitors (TNFi) in rheumatoid arthritis (RA). In this study, we examine the biology of TNFi non-response in monocytes from RA patients. We compared single cell gene expression in purified classical (CL, n=342) and non-classical (NC, n=359) monocytes. RA patients were grouped according to their pre-TNFi IFNβ/α activity: those likely to have EULAR no response (non-response group, IFNβ/α 0 or >1.3, n=9) and those likely to have EULAR moderate or good response (response group, IFNβ/α > 0 and ≤1.3, n=6). Major differences in gene expression were apparent in principal component and unsupervised cluster analyses. CL monocytes from the non-response group were unlikely to express JAK1 and IFI27 (p

Published
2019
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48. Trends in incidence of dementia among patients with rheumatoid arthritis: A population-based cohort study.

Author

Kronzer, Vanessa L., Crowson, Cynthia S., Davis III, John M., Vassilaki, Maria, Mielke, Michelle M., and Myasoedova, Elena

Abstract

We aimed to assess the incidence of dementia over time in patients with incident rheumatoid arthritis (RA) as compared to non-RA referents. This population-based, retrospective cohort study included Olmsted County, Minnesota residents with incident RA by ACR 1987 criteria, diagnosed between 1980 and 2009. We matched non-RA referents 1:1 on age, sex, and calendar year and followed all individuals until 12/31/2019. Incident dementia was defined as two codes for Alzheimer's disease and related dementias (ADRD) at least 30 days apart. Cumulative incidence of ADRD was assessed, adjusting for the competing risk of death. Cox proportional hazards models calculated hazard ratios (HR) with 95% confidence intervals (CI) for incident ADRD by decade. After excluding individuals with prior dementia, we included 897 persons with incident RA (mean age 56 years; 69% female) and 885 referents. The 10-year cumulative incidence of ADRD in individuals diagnosed with RA during the 1980s was 12.7% (95%CI:7.9–15.7%), 1990s was 7.2% (95%CI:3.7–9.4%), and 2000s was 6.2% (95%CI:3.6–7.8%). Individuals with RA diagnosed in 2000s had insignificantly lower cumulative incidence of ADRD than those in the 1980s (HR 0.66; 95%CI:0.38–1.16). The overall HR of ADRD in individuals with RA was 1.37 (vs. referents; 95%CI:1.04–1.81). When subdivided by decade, however, the risk of ADRD in individuals diagnosed with RA was higher than referents in the 1990s (HR 1.72, 95%CI:1.09–2.70) but not 2000s (HR 0.86, 95%CI:0.51–1.45). The risk of dementia in individuals with RA appears to be declining over time, including when compared to general population referents. [ABSTRACT FROM AUTHOR]

Published
2021
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49. Multiple morbidities are associated with serious infections in patients with rheumatoid arthritis.

Author

Kimbrough, Bradly A., Crowson, Cynthia S., Lennon, Ryan J., Davis III, John M, Strangfeld, Anja, and Myasoedova, Elena

Abstract

• Morbidities are associated with serious infection risk in rheumatoid arthritis. • Bipolar disorder, dementia, and vitamin D deficiency pose the greatest risk. • Highest risk morbidities are associated with a 3–6-fold risk of serious infection. • Serious infection risk increases by 16 % per morbidity. • The risk of many morbidities is not fully accounted for in 2 common risk models. To assess the association between a comprehensive list of morbidities and serious infection (SI) in patients with rheumatoid arthritis (RA). This study evaluated SI risk associated with 55 comorbidities using a population-based inception cohort including all adult patients with incident RA from 1999 through 2014 with follow up through 2021. Morbidities and SI were ascertained using previously validated international classification of disease (ICD)-9 and ICD-10 codes. Conditional frailty models were utilized to analyze the association between each morbidity and SI: Model 1 adjusted for age, sex, and calendar year; Model 2 adjusted for factors in Model 1 and the Rheumatoid Arthritis Observation of Biologic Therapy (RABBIT) Risk Score of Infections; and Model 3 adjusted for factors in Model 1 and the Mayo SI Risk Score. 911 patients (70 % female, mean age 56 years, 66 % seropositive) were included. There were 293 SI among 155 patients (17 %), corresponding to an incidence of 3.9 SI per 100 person-years. Eighteen SI were fatal. Risk of SI was significantly increased in 27 of 55 morbidities in Model 1, 11 morbidities in Model 2, and 23 morbidities in Model 3. Additionally, several morbidities included in the RABBIT and Mayo risk scores continued to have large effect sizes despite adjustment. Serious infection risk increased by 11–16 % per morbidity in the three models. Several morbidities are associated with an increased risk for SI. Future risk scores may include morbidities identified in this study for improved SI risk assessment. [ABSTRACT FROM AUTHOR]

Published
2024
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50. Lifestyle and Clinical Risk Factors for Incident Rheumatoid Arthritis-associated Interstitial Lung Disease.

Author

Kronzer, Vanessa L., Weixing Huang, Dellaripa, Paul F., Sicong Huang, Feathers, Vivi, Bing Lu, Iannaccone, Christine K., Gill, Ritu R., Hiroto Hatabu, Mizuki Nishino, Crowson, Cynthia S., Davis III, John M., Weinblatt, Michael E., Shadick, Nancy A., Doyle, Tracy J., Sparks, Jeffrey A., Huang, Weixing, Huang, Sicong, Lu, Bing, and Hatabu, Hiroto

Published
2021
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