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Increasing Serious Illness Conversations in Patients at High Risk of One-Year Mortality Using Improvement Science: A Quality Improvement Study.
Healthcare (Basel)
January 2025
Department of Medicine, Division of Geriatrics and Palliative Medicine, Glennan Center for Geriatrics and Gerontology, Eastern Virginia Medical School at Old Dominion University, Norfolk, VA 23508, USA.
Serious illness conversation (SIC) in an important skillset for clinicians. A review of mortality meetings from an urban academic hospital highlighted the need for early engagement in SICs and advance care planning (ACP) to align medical treatments with patient-centered outcomes. The aim of this study was to increase SICs and their documentation in patients with low one-year survival probability identified by updated Charlson Comorbidity Index (CCI) scores.
View Article and Find Full Text PDFThe Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.
Clin Genet
December 2024
Univ. Lille, CHU Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, CRMR Déficiences Intellectuelles de Causes Rares, Lille, France.
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) is a rare autosomal dominant syndrome caused by pathogenic variants in the BRPF1 gene, which is critical for chromatin regulation. This study expands the clinical and molecular spectrum of IDDDFP by analysing 29 new patients from 20 families with confirmed BRPF1 variants. Our cohort presented with a wide range of clinical features including developmental delay, intellectual disability (ID) and characteristic dysmorphic facial features such as ptosis, blepharophimosis and a broad nasal bridge.
View Article and Find Full Text PDFPulmonary Consequences of Surgical Treatment in Children's Primary Lung Tumors: A National Retrospective Study.
Pediatr Blood Cancer
March 2025
Pediatric Hematology and Oncology Department, University Hospital of Caen, Caen, France.
Background And Aims: Primary lung tumors (PLTs) in children are rare, and surgery remains the key to ensure remission. Here we describe the PLTs clinical characteristics, their management, and the pulmonary outcome following surgery.
Methods: We carried out a French national cohort of pediatric PLTs from 2013 to 2023 from the FRACTURE rare pediatric tumors national database.
Evaluation of rheumatoid arthritis-associated interstitial lung disease in patients treated with JAK inhibitors: a MAJIK-SFR cohort study.
RMD Open
January 2025
Service de Rhumatologie, Hôpital Cochin, APHP-Centre Université Paris Cité, Paris, France
Objective: To examine the course of interstitial lung disease associated with rheumatoid arthritis (RA-ILD) in France on treatment with Janus kinase inhibitors (JAKis) using the MAJIK-SFR registry.
Methods: Prospective national multicentre observational study identifying patients with RA-ILD from the MAJIK-SFR registry. Pulmonary assessment data were collected at JAKi initiation and follow-up visits (6 months, 12 months and a median of 21 months postinclusion), including chest high-resolution CT (HRCT), pulmonary function tests (forced vital capacity (FVC) and diffusing capacity of the lungs for carbon monoxide (DLCO)), acute exacerbations of ILD, respiratory infections and lung cancers.
Medical Professionals' Perceptions of and Experiences With Terminally Ill Orthodox Jewish Patients.
Am J Hosp Palliat Care
January 2025
Department of Palliative and Supportive Care, Cleveland Clinic Taussig Cancer Institute, Cleveland, OH, USA.
Orthodox Jewish patients with terminal illnesses have unique goals and desires, often driven by (Jewish law and ethics) and cultural norms. We conducted a quality improvement project investigating the baseline perceptions and experiences of medical professionals who care for Orthodox Jewish patients with terminal illnesses. The survey included health care professionals who cared for Orthodox Jewish patients as part of Intensive Care Unit (ICU), Oncology, or Palliative Care and Hospice teams.
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