We report a one year old girl with Fraser Syndrome (the association of craniofacial abnormalities, syndactaly and cryptophlamos) and multiple urogenital abnormalities including clitorimegaly, left renal agenesis and a unique urinary bladder exstrophy variant (psuedoexstrophy) with intact bladder which herniates through the lower abdominal wall defect.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
The design and rationale of the cardiac REHABilitation to improve metabolic health in Hypertrophic CardioMyopathy (REHAB-HCM) Study.
Am Heart J Plus
February 2025
Division of Cardiology, Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
Study Objective: Hypertrophic cardiomyopathy (HCM) is the most common genetic myocardial disorder increasingly characterized by concomitant metabolic syndrome. Cardiac rehabilitation (CR) has been shown to improve metabolic parameters in populations with heart failure and myocardial infarction. However, there is a paucity of data on the impact of CR in the HCM population with metabolic syndrome.
View Article and Find Full Text PDFWeb Visualization for Spatiotemporal Genomic Epidemiology, Annotation, and Mutation Dynamics of Orthohantavirus hantanense Using Nextstrain.
Am J Trop Med Hyg
January 2025
Department of Microbiology, Korea University College of Medicine, Seoul, Republic of Korea.
The phylogeographic inference approach aims to connect genomic data with epidemiology to understand the spread and evolution of pathogens using visualization of spatiotemporal reconstructions. Orthohantavirus hantanense (HTNV), the causative agent of hemorrhagic fever with renal syndrome (HFRS), represents a significant global public health concern. Here, we introduce a localized Nextstrain platform for HTNV, offering a comprehensive resource for facilitating spatiotemporal genomic surveillance and the study of evolutionary dynamics of viral genomes.
View Article and Find Full Text PDFTracking Outcomes Post Intensive Care: Findings of a longitudinal observational study.
Aust Crit Care
January 2025
Critical Care Research Group, Prince Charles Hospital, Brisbane, Queensland, Australia; School of Dentistry, University of Queensland, Brisbane, Queensland, Australia.
Background: Many intensive care unit (ICU) survivors experience new or worsening impairments, termed post-intensive care syndrome. Substantial investment has been made in identifying patients at risk and developing interventions, but evidence remains equivocal. A more nuanced understanding of risk and outcomes is therefore warranted.
View Article and Find Full Text PDFA systematic review and meta-analysis of dual-task outcomes in subjective cognitive decline.
Alzheimers Dement (Amst)
January 2025
Faculty of Health Sciences, Interdisciplinary School of Health Sciences University of Ottawa Ottawa Ontario Canada.
Unlabelled: Subjective cognitive decline (SCD) may represent a preclinical manifestation of objective cognitive impairment. This review consolidated existing findings to determine if dual-tasks objectively differentiate between individuals with SCD, motoric cognitive risk syndrome (MCR), mild cognitive impairment (MCI), and dementia. MEDLINE, Embase, PsycINFO, CENTRAL, AgeLine, and CINAHL were systematically searched for dual-task studies examining older adults with SCD and analyzed using random-effects meta-analyses.
View Article and Find Full Text PDFHospital-level volume in extracorporeal membrane oxygenation cases and death or disability at 6 months.
Crit Care Resusc
December 2024
Australian and New Zealand Intensive Care Research Centre, Monash University, Melbourne, Australia.
Objective: Extracorporeal membrane oxygenation (ECMO) is a high-risk procedure with significant morbidity and mortality and there is an uncertain volume-outcome relationship, especially regarding long-term functional outcomes. The aim of this study was to examine the association between ECMO centre volume and long-term death and disability outcomes.
Design Setting And Participants: This is a registry-embedded observational cohort study.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!