tbuckley/cabot-search huggingface dataset:
Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma
Authors: Stine Bjørn Gram, Klaus Brusgaard, Ulrikke Lei, Mette Sommerlund, Gabrielle Randskov Vinding, Sondre Olai Kjellevold Sleire, Alex Hørby Christensen, Sanne Pedersen Fast, Rasmus Bach, Anette Bygum, Lilian Bomme Ousager
Journal: JAMA Dermatology (2024)

Importance Palmoplantar keratoderma poses diagnostic challenges due to its clinical and genetic heterogeneity, and knowledge on the value of systematic genetic testing on clinically well-described patient cohorts is sparse. Objective To improve knowledge of the clinical and genetic spectrum of patients with palmoplantar keratoderma. Design, Setting, and Participants This cohort study prospectively recruited patients and affected family members with palmoplantar keratoderma between September 1, 2016, and December 31, 2022. Patients were recruited from private practitioners in dermatology and dermatology departments in Denmark. Study participants were patients 18 years or older either newly diagnosed with palmoplantar keratoderma or being followed up for the disease at referral centers. Main Outcomes and Measures Phenotypes and clinical subtypes were classified. Genetic testing was performed by whole-exome or genome sequencing using an in silico panel containing genes related to palmoplantar keratoderma, or by Sanger sequencing for specific variants. Descriptive analysis, such as proportions and frequency, were used to describe clinical characteristics, distribution of disease-causing variants, and genotype-phenotype associations. Results This study included 142 study participants from 76 families (90 [63%] female; median [range] age, 52 [18-92] years). Clinical subtypes included 42 punctate (55%), 26 diffuse (34%), 5 focal (7%), and 3 striate (4%). A genetic diagnosis was found in 63 of 76 families (83%), including 27 disease-causing variants within 13 different genes: AAGAB (n = 39), DSG1 (n = 8), KRT1 (n = 3), DSP (n = 2), KRT9 (n = 2), AQP5 (n = 2), KRT16 (n = 1), SERPINA12 (n = 1), ABCA12 (n = 1), COL7A1 (n = 1), CARD14 (n = 1), DST (n = 1), and LORICRIN (n = 1). All participants with AAGAB variants presented with punctate palmoplantar keratoderma, showing a clear genotype-phenotype correlation. The other subtypes (diffuse, focal, and striate) proved more challenging to clinically subclassify, and disease-causing variants were identified in 12 genes, contributing to more complex genotype-phenotype patterns. Patients with palmoplantar keratoderma due to DSP variants were found, which is important to identify because of an associated risk of cardiomyopathy. Conclusion and Relevance This study provides novel insights into the clinical and genetic spectrum of patients with palmoplantar keratoderma. It demonstrates the value of genetic testing for accurate diagnoses and to distinguish between different subtypes. The established and well-described cohort lays the foundation for future research in palmoplantar keratoderma.
Redesigning the Hospital Environment to Improve Restfulness
Authors: Caellagh D. Catley, Kayla Paynter, Kendall Jackson, Ashley Huggins, Jenny Ji, Sai Anusha Sanka, Michelle Simkins, Thomas M. Maddox, Patrick G. Lyons
Journal: JAMA Network Open (2024)

Importance Hospital wards are often not conducive to patient sleep, negatively affecting patient health and experience. Objectives To assess determinants of in-hospital restfulness and to design and test rest-promoting interventions on the wards in partnership with clinicians, staff, and patients. Design, Setting, and Participants This rapid-sequential mixed-methods quality improvement study was performed at a large urban academic hospital in St Louis, Missouri, from May 1, 2021, to December 31, 2022, with follow-up through hospitalization. Mixed-methods activities involved purposively selected hospitalized adults on the wards, nurses, hospitalists, and hospital staff. Interventions included all adult hospitalizations on the study wards. Interventions Sequential stacked bundles of multimodal rest-promoting interventions (general education, focused education on light or noise, safely reducing overnight monitoring or testing, and environmental personalization). Main Outcomes and Measurements Pre-post comparisons of perceived nighttime quietness (via surveys) and sleep opportunity (coprimary outcomes) as well as clinical interruptions overnight, environmental noise, and adoption and satisfaction. Results Nine patients (4 female) and 14 staff members (10 female; 3 nurse managers or administrators, 10 nurses, and 1 physician) were interviewed, 38 surveys were collected, and more than 100 hours of observation were performed. Interventions were evaluated for 671 patients (mean [SD] age, 60 [16] years; 336 [50%] female). Determinants of in-hospital rest included infrastructure, staff attitudes, priorities, culture, and patient experiences of anxiety, uncertainty, and loss of control. Informed by these determinants, codesign workshops yielded 39 potential interventions, from which 9 were selected for testing. Related interventions were organized into bundles, which were tested in sequential 2-week sprints. Perceived nighttime quietness improved nonsignificantly during the project (wards “always” quiet at night: 51% preintervention vs 86% postintervention; P = .09), with excessive noise events decreasing from 0.65 (95% CI, 0.53-0.77) to 0 per 100 patient-nights before the intervention ( P = .02). Sleep opportunity improved significantly (mean, 4.94 [95% CI, 4.82-5.06] hours per patient-night before the intervention vs 5.10 [95% CI, 5.00-5.20] hours per patient-night after the intervention; P = .01). Conclusions and Relevance In this quality improvement study, a set of feasible, acceptable, and beneficial rest-promoting interventions were developed. After implementation of these interventions on the wards, a significant improvement in nighttime quietness and sleep opportunity was observed. These results demonstrate how human-centered design methods can generate practical and effective strategies for improving an important patient-related outcome and a core element of patient experience.
Challenging the Tools Used to Measure Cutaneous Lupus Severity in Patients of All Skin Types
Authors: Amy J. McMichael, Cheri Frey
Journal: JAMA Dermatology (2024)

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 Dermatology HomeNew OnlineCurrent IssueFor Authors Podcast JAMA+ AI Journals 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 2024 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 Dermatology journal
Unfolding the Link Between Transthyretin Stability and Survival
Authors: Anthony Angueira, Sarah A. Abramowitz, Michael G. Levin
Journal: JAMA Cardiology (2024)

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 JAMA+ AI Journals 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 2024 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
Importance of LGBTQ+–Inclusive Language When Developing and Selecting Patient-Reported Outcome Measures
Authors: John S. Barbieri, Mya L. Roberson
Journal: JAMA Dermatology (2024)

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 Dermatology HomeNew OnlineCurrent IssueFor Authors Podcast JAMA+ AI Journals 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 2024 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 Dermatology journal
Obstetric Care Access at Rural and Urban Hospitals in the United States
Authors: Katy B. Kozhimannil, Julia D. Interrante, Caitlin Carroll, Emily C. Sheffield, Alyssa H. Fritz, Alecia J. McGregor, Sara C. Handley
Journal: JAMA (2024)

This study quantifies losses and gains of obstetric care services at US rural and urban short-term acute care hospitals between 2010 and 2022.
Subtype and Racial Erythema Variation for Cutaneous Lupus Trials
Authors: Lillian Xie, Daniella Forman Faden, Caroline J. Stone, Lais Lopes Almeida Gomes, Rui Feng, Victoria P. Werth
Journal: JAMA Dermatology (2024)

Importance Regulatory guidance and standardization of disease outcome measures are essential to improve cutaneous lupus erythematosus (CLE) trial design and enhance the diversity of trial participants. Objective To assess variability in erythema presentation across CLE subtypes and among race and ethnicity groups to determine whether these potential differences affect patient eligibility for erythema trials. Design, Setting, and Participants This cross-sectional study included 377 patients with CLE enrolled in the University of Pennsylvania Cutaneous Lupus Erythematosus Database from January 2007 to December 2023. Data analyses were performed from December 2023 to February 2024. Exposure Race and CLE subtype. Main Outcomes and Measures Mean erythema calculated per the Cutaneous Lupus Erythematosus Disease Area and Severity Index (CLASI)−Activity total score divided by areas affected; then, the result was categorized as pink (1.00-1.49) or red (≥1.50) as surrogate estimates of scores per the Cutaneous Lupus Activity Investigator Global Assessment (CLA-IGA). Results The total study cohort included 377 adult patients with CLE (mean [SD; range] age, 45.2 [14.8; 18.4-88.8] years; 305 females [80.9%] and 72 males [19.1%]; 115 Black [30.5%], 228 White [60.5%], 34 patients of other races [9.0%; Asian, multiple races, Native American/Pacific Islander, or unknown], and 11 of Hispanic/Latino ethnicity [2.9%]). The most common CLE subtype was chronic CLE (CCLE), affecting 243 patients (64.5%), followed by subacute CLE (SCLE) in 103 patients (27.3%) and acute CLE (ACLE) in 31 patients (8.2%). Significant differences were observed in average erythema across subtypes, with mean (SD) SCLE of 1.62 (0.39) and hypertrophic CCLE of 1.78 (0.25) as the only subtypes routinely classified as red. Significant differences were also observed by race and ethnicity: mean (SD) erythema score in White patients was red (1.58 [0.45]) more frequently than in Black patients (1.36 [0.40]) and patients of other races (1.30 [0.39]), in whom, on average, it was scored as pink. Importantly, among patients who would meet typical CLASI entry criteria (score ≥8) for clinical trials, erythema in more Black patients than in White patients was classified as pink (42% [96 patients] vs 24% [28 patients]), which suggests exclusion from trial participation when a baseline of red lesions is required. Conclusions and Relevance The findings of this cross-sectional study suggest that using average erythema scores per the CLA-IGA scale imposes substantial limitations on trial eligibility, specifically by race and subtype. Given the critical need to standardize CLE trial outcome measures and increase diverse representation in clinical trials, our findings support the use of the CLASI as the primary scoring tool to determine erythema trial eligibility.
Double Trouble—Do Smaller Incisions Create Bigger Problems?
Authors: Melissa E. Hogg, Herbert J. Zeh
Journal: JAMA Surgery (2024)

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 JAMA+ AI Journals 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 2024 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
Firearm Policy in the Hospital Setting—Reply
Authors: Joshua B. Romero, Richard S. Saver, Joseph Blocher
Journal: JAMA (2024)

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 JAMA+ AI Journals 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 2024 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
Risk of Intracranial Hemorrhage Associated With Direct Oral Anticoagulation vs Antiplatelet Therapy
Authors: Mark Coyle, Amy Lynch, Meave Higgins, Maria Costello, Conor Judge, Martin O’Donnell, Catriona Reddin
Journal: JAMA Network Open (2024)

Importance For patients with atrial fibrillation, clinicians often prescribe antiplatelet therapy rather than oral anticoagulation, which may be related to a concern that direct oral anticoagulants (DOACs) are associated with a higher risk of intracranial bleeding, despite being less effective for stroke prevention. Objective To determine whether DOAC therapy, compared with single-agent antiplatelet therapy, was associated with an increased risk of intracranial and major hemorrhage. Data Sources A systematic search of PubMed and Embase databases from inception to February 7, 2024, was performed. Study Selection Randomized clinical trials that compared DOAC therapy with single-agent antiplatelet therapies were included. Trials with active follow-up of less than 30 days or a sample size less than 200 were excluded. Data Extraction and Synthesis The study followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses reporting guideline. Data were extracted independently by 2 researchers. A random-effects meta-analysis model was used to report pooled treatment effects and 95% CIs. Main Outcomes and Measures The primary outcome was occurrence of intracranial hemorrhage. Results A total of 9 randomized clinical trials were included (45 494 participants). DOAC therapy was not associated with significantly higher odds of intracranial hemorrhage compared with antiplatelet therapy (0.55% vs 0.48% over a mean trial follow-up of 17.1 months; odds ratio [OR], 1.15; 95% CI, 0.71-1.88), but there was heterogeneity among trials ( I 2 = 53.7%). In an analysis by DOAC agent, the respective estimates for intracranial hemorrhage risk were as follows: rivaroxaban, OR, 2.09 (95% CI, 1.20-3.64); dabigatran, OR, 1.00 (95% CI, 0.61-1.64); and apixaban, OR, 0.72 (95% CI, 0.44-1.17). Overall, DOAC therapy was associated with higher odds of major hemorrhage compared with antiplatelet therapy (2.41% vs 1.76% over a mean trial follow-up of 15.5 months; OR, 1.39; 95% CI, 1.07-1.80), with the following estimates by agent: rivaroxaban, OR, 1.91 (95% CI, 1.22-3.00); dabigatran; OR, 1.21 (95% CI, 0.86-1.69); and apixaban, OR, 1.09 (95% CI, 0.73-1.63). Conclusions and Relevance In this systematic review and meta-analysis, DOAC therapy was not associated with a significantly higher risk of intracranial hemorrhage compared with antiplatelet therapy, but was associated with a higher risk of major hemorrhage. These findings support the safety of DOAC compared with antiplatelet therapy with respect to risk of ICH and reinforce adherence with current atrial fibrillation guidelines.
Capturing the Full Range of Buprenorphine Treatment Response
Authors: Allen J. Bailey, Victoria R. Votaw, Roger D. Weiss, R. Kathryn McHugh
Journal: JAMA Psychiatry (2024)

Importance Reliance on abstinence-based treatment success rules may fail to capture the full continuum of treatment response to buprenorphine plus medical counseling (BUP+MC) for opioid use disorder (OUD). Objective To describe patterns of reduction in illicit opioid use of patients both labeled as a success and nonsuccess based on an abstinent-based treatment outcome rule. Design, Setting, and Participants This study is a secondary data analysis of 4 harmonized randomized clinical trials on BUP+MC for OUD from multiple sites that included 869 patients with OUD. These data were analyzed on April 23, 2024. By week 12, 643 participants of the sample original remained (74%). Intervention All studies included patients randomized to BUP+MC or BUP plus enhanced MC (eg, delivered with adjunctive cognitive behavioral therapy). Main Outcomes and Measures Weekly self-reported days of illicit opioid use through 12 weeks of treatment. Abstinence was confirmed by urine drug screen. Results This study included 869 adults with OUD aged 18 to 69 (mean, 34.2 [SD, 10.45]) years; 287 patients were female (33%), 52 identified as Black (6%), 70 identified Hispanic (8%), 713 identified as White (82%), and 34 identified as other racial groups (4%). Only 377 patients (43%) would have been labeled a success using an abstinence-based success rule. However, the total sample reported a decrease from a mean baseline rate of illicit opioid use nearly every day (6.21 [SD, 1.50] days per week) to a mean of less than 1 day per week at week 12 (0.54 [SD, 1.28]). Importantly, even those who were labeled as nonsuccessful reported a substantial reduction in opioid use from a mean of 6.29 (SD, 1.42) days per week to 1.51 (SD, 1.76) days per week. Conclusion and Relevance In this study, about half of patients receiving BUP+MC achieved near complete abstinence; however, many more experienced a partial treatment response characterized by a substantial reduction in illicit opioid use that falls short of abstinence. Future studies are needed to characterize how these reductions are associated with functional and long-term outcomes. Dissemination of BUP+MC as part of standard buprenorphine prescribing practices is an essential next step given the robust average response of this intervention.
Population Trends and Individual Fluidity of Sexual Identity Among Stockholm County Residents
Authors: Guoqiang Zhang, Per Tynelius, Maya B. Mathur, Matteo Quartagno, Gunnar Brandén, Fredrik Liljeros, Kyriaki Kosidou
Journal: JAMA Network Open (2024)

This survey study examines population trends in sexual identity and patterns of individual sexual identity fluidity in Stockholm County, Sweden, from 2010 to 2021.
CD97 maintains tumorigenicity of glioblastoma stem cells via mTORC2 signaling and is targeted by CAR Th9 cells
Authors: Shuchang Zhou, Weiwei Lin, Xiong Jin, Rui Niu, Zheng Yuan, Tianran Chai, Qi Zhang, Meixia Guo, Sung Soo Kim, Meichen Liu, Yilin Deng, Jong Bae Park, Sun Il Choi, Bingyang Shi, Jinlong Yin
Journal: Cell Reports Medicine (2024)