Nail-patella syndrome, also known as Fong disease, is an uncommon autosomal dominant disorder characterized by a distinctive set of features, including fingernail abnormalities, hypoplastic patellae, radial head dislocation, and iliac horns. This condition often leads to patellar subluxation or dislocation, resulting in knee instability and pain. While existing literature predominantly focuses on the clinical and radiological aspects of nail-patella syndrome-related knee manifestations, only a limited number of articles delve into a meticulous approach to the condition with a comprehensive strategy for diagnosis. We present an atypical case of Fong disease distinguished by unique genetic characteristics and subsequently subjected to a thorough clinical assessment and a meticulously planned operative treatment regimen.
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http://dx.doi.org/10.1093/jscr/rjae207 | DOI Listing |
J Endourol
December 2024
Urology Unit, Azienda Ospedaliero-Universitaria delle Marche, Ancona, Italy.
We aim to evaluate stone-free rate (SFR) and complications after flexible ureteroscopy (F-URS) for kidney stones, using a flexible and navigable suction ureteral access sheath (FANS), comparing thulium fiber laser (TFL) and high-power holmium:yttrium-aluminum-garnet laser (HPHL). Data from adults who underwent F-URS in 15 centers were prospectively analyzed (August 2023-January 2024). Exclusion criteria were ureteral stones, concomitant bilateral procedures, and renal abnormalities.
View Article and Find Full Text PDFClin Gastroenterol Hepatol
December 2024
Division of Hepatology, Montefiore Einstein Medical Center, Bronx, New York, USA.
Introduction: Acute variceal bleeding (AVB) portends significant 6-week mortality in patients with cirrhosis. It remains unclear if the correlation between liver prognostic scores and 6-week mortality are similar across different etiologies of liver cirrhosis, particularly alcohol-related liver disease (ALD) vs. non-alcohol-related liver disease (non-ALD).
View Article and Find Full Text PDFJ Infect Dis
December 2024
Vaccine and Infectious Disease Division, Fred Hutchinson Cancer Center, Seattle, Washington, USA.
Utilizing transiently transfected cell lines could significantly reduce manufacturing timelines for protein subunit vaccines. This trial compared safety and immunogenicity of human immunodeficiency virus (HIV) envelope CH505TF gp120 vaccines produced by upstream stable and transient transfection (each admixed with GLA-SE adjuvant, a TL4 agonist). Both vaccines were safe and well tolerated.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Division of Life Science, State Key Laboratory of Molecular Neuroscience, Molecular Neuroscience Center, The Hong Kong University of Science and Technology, Hong Kong, China.
Introduction: The SORL1 locus exhibits protective effects against Alzheimer's disease (AD) across ancestries, yet systematic studies in diverse populations are sparse.
Methods: Logistic regression identified AD-associated SORL1 haplotypes in East Asian (N = 5249) and European (N = 8588) populations. Association analysis between SORL1 haplotypes and AD-associated traits or plasma biomarkers was conducted.
Alzheimers Dement
December 2024
Department of Epidemiology, University of California Los Angeles Fielding School of Public Health, Los Angeles, California, USA.
Introduction: Childhood adversity harms neurodevelopment. Literature on late-life brain health is limited, and findings on late-life cognition are mixed.
Methods: Pooling data from Kaiser Healthy Aging and Diverse Life Experiences (KHANDLE) and Study of Healthy Aging in African Americans (STAR) cohorts, we assessed the impact of childhood adversity (factor score from seven self-reported items) on (a) executive function and verbal memory decline using linear mixed effects models (n = 2447), (b) structural magnetic resonance imaging (MRI) using linear regression (n = 618), and (c) amyloid positron emission tomography (PET) using generalized linear models (n = 331), all adjusting for early-life demographic and socioeconomic confounders.
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