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Variability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry.
ERJ Open Res
January 2025
Department of Pediatrics and Center for Cystic Fibrosis, Hadassah University Medical Center, Hebrew University Hadassah Medical School, Jerusalem, Israel.
Background: People with cystic fibrosis (CF) variants that exhibit residual function (RF) of the CF transmembrane conductance regulator are considered to have a milder disease; however, the spectrum of CF phenotype within the different RF variants has not been extensively investigated. The aim of the present study was to characterise the spectrum of CF disease severity in people with CF (pwCF) carrying different RF variants, using the European Cystic Fibrosis Society Patient Registry (ECFSPR) data.
Methods: A retrospective cross-sectional and longitudinal cohort study included data from the ECFSPR during 2008-2016.
tdCoxSNN: Time-dependent Cox survival neural network for continuous-time dynamic prediction.
J R Stat Soc Ser C Appl Stat
January 2025
Department of Biostatistics and Health Data Science, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
The aim of dynamic prediction is to provide individualized risk predictions over time, which are updated as new data become available. In pursuit of constructing a dynamic prediction model for a progressive eye disorder, age-related macular degeneration (AMD), we propose a time-dependent Cox survival neural network (tdCoxSNN) to predict its progression using longitudinal fundus images. tdCoxSNN builds upon the time-dependent Cox model by utilizing a neural network to capture the nonlinear effect of time-dependent covariates on the survival outcome.
View Article and Find Full Text PDFHypomethylating agents for patients with VEXAS without myelodysplastic syndrome: Clinical outcome and longitudinal follow-up of vacuolization and UBA1 clonal dynamics.
Br J Haematol
January 2025
Institut d'Investigacions Biomèdiques August Pi iSunyer (IDIBAPS), Barcelona, Spain.
VEXAS syndrome is a haemato-inflammatory disease caused by somatic UBA1 mutations and characterized by cytoplasmic vacuoles in myeloid and erythroid precursor cells. Although there is currently no standard treatment algorithm for VEXAS, patients are generally treated with anti-inflammatory therapies focused on symptom management, with only partial effectiveness. Hypomethylating agents (HMA) have shown promise in VEXAS patients with concomitant myelodysplastic syndrome (MDS), while the efficacy of HMA in VEXAS patients without MDS is largely unknown.
View Article and Find Full Text PDFFloodplain forests drive fruit-eating fish diversity at the Amazon Basin-scale.
Proc Natl Acad Sci U S A
January 2025
Centre de Recherche sur la Biodiversité et l'Environnement, Université de Toulouse, Institut de Recherche pour le Développement, Institut National Polytechnique de Toulouse, Université Toulouse 3 - Paul Sabatier, Toulouse F-31062, France.
Unlike most rivers globally, nearly all lowland Amazonian rivers have unregulated flow, supporting seasonally flooded floodplain forests. Floodplain forests harbor a unique tree species assemblage adapted to flooding and specialized fauna, including fruit-eating fish that migrate seasonally into floodplains, favoring expansive floodplain areas. Frugivorous fish are forest-dependent fauna critical to forest regeneration via seed dispersal and support commercial and artisanal fisheries.
View Article and Find Full Text PDFTuberculous longitudinal extensive transverse myelitis: 2 cases and literature review.
J Spinal Cord Med
January 2025
Department of Neurology, the First Affiliated Hospital of Chongqing Medical University, Chongqing, People's Republic of China.
Context: This study aimed to investigate the characteristics, diagnosis, and management of tuberculous longitudinally extensive transverse myelitis (TB-LETM), a rare manifestation of tuberculosis.
Findings: We analyzed two rare cases of TB-LETM and discussed their clinical manifestations and imaging findings in the context of the relevant literature. Patient 1, a 23-year-old female, presented with quadriplegia and dysuria, and spinal magnetic resonance imaging (MRI) revealed lesions extending from C1 to T3.
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