tbuckley/cabot-search huggingface dataset:
Pulmonary vascular phenotype identified in patients with<i>GDF2</i>(<i>BMP9</i>) or<i>BMP10</i>variants: an international multicentre study
Authors: Julien Grynblat, Harm Jan Bogaard, Mélanie Eyries, Olivier Meyrignac, Laurent Savale, Xavier Jaïs, Maria-Rosa Ghigna, Lucas Celant, Lilian Meijboom, Arjan C. Houweling, Marilyne Levy, Fabrice Antigny, Ari Chaouat, Vincent Cottin, Christophe Guignabert, Florence Coulet, Olivier Sitbon, Damien Bonnet, Marc Humbert, David Montani
Journal: European Respiratory Journal (2024)

Background Bone morphogenetic proteins 9 and 10 (BMP9 and BMP10), encoded by GDF2 and BMP10 , respectively, play a pivotal role in pulmonary vascular regulation. GDF2 variants have been reported in pulmonary arterial hypertension (PAH) and hereditary haemorrhagic telangiectasia (HHT). However, the phenotype of GDF2 and BMP10 carriers remains largely unexplored. Methods We report the characteristics and outcomes of PAH patients in GDF2 and BMP10 carriers from the French and Dutch pulmonary hypertension registries. A literature review explored the phenotypic spectrum of these patients. Results 26 PAH patients were identified: 20 harbouring heterozygous GDF2 variants, one homozygous GDF2 variant, four heterozygous BMP10 variants, and one with both GDF2 and BMP10 variants. The prevalence of GDF2 and BMP10 variants was 1.3% and 0.4%, respectively. Median age at PAH diagnosis was 30 years, with a female/male ratio of 1.9. Congenital heart disease (CHD) was present in 15.4% of the patients. At diagnosis, most of the patients (61.5%) were in New York Heart Association Functional Class III or IV with severe haemodynamic compromise (median (range) pulmonary vascular resistance 9.0 (3.3–40.6) WU). Haemoptysis was reported in four patients; none met the HHT criteria. Two patients carrying BMP10 variants underwent lung transplantation, revealing typical PAH histopathology. The literature analysis showed that 7.6% of GDF2 carriers developed isolated HHT, and identified cardiomyopathy and developmental disorders in BMP10 carriers. Conclusions GDF2 and BMP10 pathogenic variants are rare among PAH patients, and occasionally associated with CHD. HHT cases among GDF2 carriers are limited according to the literature. BMP10 full phenotypic ramifications warrant further investigation.
Response to “Comment on ‘State-of-the-Science Data and Methods Need to Guide Place-Based Efforts to Reduce Air Pollution Inequity’”
Authors: Julia M. Gohlke, Maria H. Harris, Ananya Roy, Tammy M. Thompson, Mindi DePaola, Ramón A. Alvarez, Susan C. Anenberg, Joshua S. Apte, Mary Angelique G. Demetillo, Isabella M. Dressel, Gaige H. Kerr, Julian D. Marshall, Aileen E. Nowlan, Regan F. Patterson, Sally E. Pusede, Veronica A. Southerland, Sarah A. Vogel
Journal: Environmental Health Perspectives (2024)
Community based complex interventions to sustain independence in older people: systematic review and network meta-analysis
Authors: Thomas F Crocker, Joie Ensor, Natalie Lam, Magda Jordão, Ram Bajpai, Matthew Bond, Anne Forster, Richard D Riley, Deirdre Andre, Caroline Brundle, Alison Ellwood, John Green, Matthew Hale, Lubena Mirza, Jessica Morgan, Ismail Patel, Eleftheria Patetsini, Matthew Prescott, Ridha Ramiz, Oliver Todd, Rebecca Walford, John Gladman, Andrew Clegg
Journal: BMJ (2024)

To synthesise evidence of the effectiveness of community based complex interventions, grouped according to their intervention components, to sustain independence for older people.
The Transatlantic Recommendations for Prostate Gland Evaluation with Magnetic Resonance Imaging After Focal Therapy (TARGET): A Systematic Review and International Consensus Recommendations
Authors: Alexander Light, Nikhil Mayor, Emma Cullen, Alex Kirkham, Anwar R. Padhani, Manit Arya, Joyce G.R. Bomers, Tim Dudderidge, Behfar Ehdaie, Alex Freeman, Stephanie Guillaumier, Richard Hindley, Amish Lakhani, Douglas Pendse, Shonit Punwani, Ardeshir R. Rastinehad, Olivier Rouvière, Rafael Sanchez-Salas, Ivo G. Schoots, Heminder K. Sokhi, Henry Tam, Clare M. Tempany, Massimo Valerio, Sadhna Verma, Geert Villeirs, Jan van der Meulen, Hashim U. Ahmed, Taimur T. Shah
Journal: European Urology (2024)

Magnetic resonance imaging (MRI) can detect recurrences after focal therapy for prostate cancer but there is no robust guidance regarding its use. Our objective was to produce consensus recommendations on MRI acquisition, interpretation, and reporting after focal therapy.
Vibration-Controlled Transient Elastography Scores to Predict Liver-Related Events in Steatotic Liver Disease
Authors: Huapeng Lin, Hye Won Lee, Terry Cheuk-Fung Yip, Emmanuel Tsochatzis, Salvatore Petta, Elisabetta Bugianesi, Masato Yoneda, Ming-Hua Zheng, Hannes Hagström, Jérôme Boursier, José Luis Calleja, George Boon-Bee Goh, Wah-Kheong Chan, Rocio Gallego-Durán, Arun J. Sanyal, Victor de Lédinghen, Philip N. Newsome, Jian-Gao Fan, Laurent Castéra, Michelle Lai, Stephen A. Harrison, Céline Fournier-Poizat, Grace Lai-Hung Wong, Grazia Pennisi, Angelo Armandi, Atsushi Nakajima, Wen-Yue Liu, Ying Shang, Marc de Saint-Loup, Elba Llop, Kevin Kim-Jun Teh, Carmen Lara-Romero, Amon Asgharpour, Sara Mahgoub, Mandy Sau-Wai Chan, Clemence M. Canivet, Manuel Romero-Gomez, Seung Up Kim, Vincent Wai-Sun Wong
Journal: JAMA (2024)

Metabolic dysfunction-associated steatotic liver disease (MASLD) is currently the most common chronic liver disease worldwide. It is important to develop noninvasive tests to assess the disease severity and prognosis.
Sintilimab and Cardiovascular Toxicity—Reply
Authors: Jianming Xu
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 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
Predicting Liver-Related Outcomes in Steatotic Liver Disease
Authors: Zobair M. Younossi
Journal: JAMA (2024)

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The SOUND Randomized Clinical Trial Results—Reply
Authors: Oreste Davide Gentilini
Journal: JAMA Oncology (2024)

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The SOUND Randomized Clinical Trial Results
Authors: Nidhi Garg, Mangesh A. Thorat, Ashutosh S. Kothari
Journal: JAMA Oncology (2024)

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Sintilimab and Cardiovascular Toxicity
Authors: Linfeng Peng, Dandan Yang, Cuilian Weng
Journal: JAMA (2024)

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The Chemoimmunotherapy Revolution in Resectable NSCLC—The Times They Are A-Changin’
Authors: Christian Rolfo, Alessandro Russo
Journal: JAMA Oncology (2024)

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Prevalence of Lung Cancer Screening in the US, 2022
Authors: Louise M. Henderson, I-Hsuan Su, M. Patricia Rivera, Joyce Pak, Xiaomeng Chen, Daniel S. Reuland, Jennifer L. Lund
Journal: JAMA Network Open (2024)

This cross-sectional study compares lung cancer screening prevalence in 2022 among individuals eligible by 2021 vs 2013 criteria by sociodemographics and state.
Nonverbal
Authors: Cyrus Ayubcha
Journal: JAMA Oncology (2024)

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Preterm Birth Risk and Maternal Nativity, Ethnicity, and Race
Authors: Alejandra Barreto, Brielle Formanowski, Michelle-Marie Peña, Elizabeth G. Salazar, Sara C. Handley, Heather H. Burris, Robin Ortiz, Scott A. Lorch, Diana Montoya-Williams
Journal: JAMA Network Open (2024)

Immigrant birthing people have lower rates of preterm birth compared with their US-born counterparts. This advantage and associated racial and ethnic disparities across the gestational age spectrum have not been examined nationally.
Neoadjuvant Chemoimmunotherapy for NSCLC
Authors: Mark Sorin, Connor Prosty, Louis Ghaleb, Kathy Nie, Khaled Katergi, Muhammad H. Shahzad, Laurie-Rose Dubé, Aline Atallah, Anikka Swaby, Matthew Dankner, Trafford Crump, Logan A. Walsh, Pierre O. Fiset, Boris Sepesi, Patrick M. Forde, Tina Cascone, Mariano Provencio, Jonathan D. Spicer
Journal: JAMA Oncology (2024)

To date, no meta-analyses have comprehensively assessed the association of neoadjuvant chemoimmunotherapy with clinical outcomes in non-small cell lung cancer (NSCLC) in randomized and nonrandomized settings. In addition, there exists controversy concerning the efficacy of neoadjuvant chemoimmunotherapy for patients with NSCLC with programmed cell death 1 ligand 1 (PD-L1) levels less than 1%.
PARP Inhibitors for Breast Cancer Treatment
Authors: Stefania Morganti, Antonio Marra, Carmine De Angelis, Angela Toss, Luca Licata, Federica Giugliano,, Beatrice Taurelli Salimbeni, Pier Paolo Maria Berton Giachetti, Angela Esposito, Antonio Giordano, Giampaolo Bianchini, Judy E. Garber, Giuseppe Curigliano, Filipa Lynce, Carmen Criscitiello
Journal: JAMA Oncology (2024)

Poly(adenosine diphosphate-ribose) polymerase (PARP) inhibitors have revolutionized the treatment of patients with germline BRCA1/2-associated breast cancer, representing the first targeted therapy capable of improving outcomes in patients with hereditary tumors. However, resistance to PARP inhibitors occurs in almost all patients.
The SOUND Randomized Clinical Trial Results
Authors: Caglayan Selenge Beduk Esen, Berna Akkus Yildirim
Journal: JAMA Oncology (2024)

To the Editor We read the results of the SOUND randomized clinical trial by Gentilini et al1 with great interest. The authors demonstrated the noninferiority of omission of axillary surgery for patients with sentinel lymph node biopsy (SLNB) with clinically node-negative small breast cancer.
Child Protection System Interactions for Children With Positive Urine Screens for Illicit Drugs
Authors: Rebecca Rebbe, Denise Malicki, Nadia Siddiqi, Jeannie S. Huang, Emily Putnam-Hornstein, Natalie Laub
Journal: JAMA Network Open (2024)

Importance Young children are ingesting illicit drugs at increased rates, but it is unknown what the associated child protection system (CPS) responses are when a child tests positive. Objective To document the child protection system involvement and the characteristics of children who test positive for illicit substances. Design, Setting, and Participants This retrospective cross-sectional study linked medical discharge and child protection system administrative data. The setting was Rady Children’s Hospital San Diego, a free-standing pediatric hospital in California. Participants included all emergency department and inpatient medical encounters involving children aged 12 years or younger with a positive urine drug test between 2016 and 2021. Statistical analysis was performed from February 2023 to January 2024. Exposure Drug type, including amphetamines, barbiturates, benzodiazepines, cannabis, cocaine, fentanyl, opiates, and phencyclidine. Main Measures and Outcomes CPS responses associated with the medical encounter including reports, substantiations, case openings, and out-of-home placements. Results A total of 511 emergency department and inpatient medical encounters involving children had a positive drug test (262 [51.3%] were female; 309 [60.5%] were age 6 years or younger; fewer than 10 [&amp;amp;lt;3.0%] were American Indian or Alaska Native; 252 [49.3%] were Hispanic [any race], 20 [3.9%] were non-Hispanic Asian, 56 [11.0%] were non-Hispanic Black, 143 [28.0%] were non-Hispanic White, 36 [7.0%] had other or unknown race and ethnicity; 233 [43.6%] had a CPS report prior to the medical encounter). Following the positive screen, 244 (47.7%) were reported to child protection, and 61 (11.9%) were placed out-of-home within 30 days. Mean (SD) quarterly counts of encounters with positive drug tests doubled after the COVID-19 pandemic onset (32.9 [9.8]) compared with prior to the pandemic onset (16.5 [4.7]); for encounters positive for cannabis, mean (SD) quarterly counts were 3 times as high after the pandemic onset than prior (16.6 [4.7] vs 5.7 [2.9]). Encounters for children under age 1 were significantly more likely to have associated child protection reports (relative risk [RR], 2.91 [95% CI, 2.21-3.83]) and child protection case openings (RR, 1.71 [95% CI, 1.07-2.72]) than encounters involving older children. Conclusions and Relevance In this cross-sectional study of emergency department and inpatient medical encounters, less than half of children with positive urine drug screens were reported to CPS; out-of-home placements were uncommon. With increased encounters for positive drug tests, it is unclear what services these children and families are receiving.
The SOUND Randomized Clinical Trial Results
Authors: Lakshmi Radhakrishnan, Seenu Vuthaluru
Journal: JAMA Oncology (2024)

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