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Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Orphanet J Rare Dis
January 2025
Ophthalmology Department, Centro Hospitalar e Universitário de Coimbra (CHUC), Hospitais da Universidade de Coimbra (HUC), ULS Coimbra, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal.
Background: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources.
View Article and Find Full Text PDFEstablishment and validation of predictive model of ARDS in critically ill patients.
J Transl Med
January 2025
Department of Critical Care Medicine, Peking University Third Hospital, Beijing, 100191, China.
Background: Acute respiratory distress syndrome (ARDS) is a prevalent complication among critically ill patients, constituting around 10% of intensive care unit (ICU) admissions and mortality rates ranging from 35 to 46%. Hence, early recognition and prediction of ARDS are crucial for the timely administration of targeted treatment. However, ARDS is frequently underdiagnosed or delayed, and its heterogeneity diminishes the clinical utility of ARDS biomarkers.
View Article and Find Full Text PDFDetermining timeframes to death for imminently dying patients: a retrospective cohort study.
BMC Palliat Care
January 2025
Caring Futures Institute, Flinders University, Sturt Rd, Bedford Park, Adelaide, South Australia, 5042, Australia.
Background: Clinicians are frequently asked 'how long' questions at end-of-life by patients and those important to them, yet predicting timeframes to death remains uncertain, even in the last weeks and days of life. Patients and families wish to know so they can ask questions, plan, make decisions, have time to visit and say their goodbyes, and have holistic care needs met. Consequently, this necessitates a more accurate assessment of empirical data to better inform prognostication and reduce uncertainty around time until death.
View Article and Find Full Text PDFFactors Associated with Clinically Significant Extrinsic Compression on Gastroduodenal Endoscopy.
Dig Dis Sci
January 2025
Division of Gastroenterology, Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, 50-1 Yonsei-Ro, Seodaemun-Gu, Seoul, 03722, Republic of Korea.
Background: Although clinicians frequently encounter incidentally detected gastroduodenal extrinsic compressive lesions (GDECLs) on upper gastrointestinal endoscopy (UGE), the optimal management approach for GDECLs has not been fully established. This study aimed to stratify and identify important factors associated with clinically significant GDECLs that require regular follow-up or further treatment.
Methods: Between June 2007 and December 2015, a total of 73 patients with suspected GDECLs on UGE at Kyung Hee University Hospital at Gangdong were identified and studied retrospectively.
ERα dysfunction caused by ESR1 mutations and therapeutic pressure promotes lineage plasticity in ER breast cancer.
Nat Cancer
January 2025
Department of Discovery Oncology, Genentech, South San Francisco, CA, USA.
Multiple next-generation molecules targeting estrogen receptor α (ERα) are being investigated in breast cancer clinical trials, encompassing thousands of women globally. Development of these molecules was partly motivated by the discovery of resistance-associated mutations in ESR1 (encodes ERα). Here, we studied the impact of ERα antagonist/degraders against Esr1 mutations expressed in mouse mammary glands.
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