3901 papers
This case report illustrates the critical importance of segregation analysis in exome sequencing by demonstrating how a rare, computationally predicted pathogenic KIF1A variant was correctly excluded as the cause of familial hyperekplexia after failing to cosegregate with the disease phenotype in an affected family member.
This multi-city time-case crossover study in Anhui Province reveals that short-term PM2.5 exposure and low temperatures exert significant bidirectional synergistic effects on cardiovascular mortality, particularly for acute subtypes and among the elderly, whereas high temperatures only experience unidirectional amplification by PM2.5.
This retrospective study of 3,221 ICU patients reveals that rectal colonization with carbapenem-resistant Enterobacterales is prevalent (8.9%), frequently leads to subsequent infection (51.6%), and is significantly associated with increased mortality, underscoring the critical need for early detection and rigorous infection control measures.
In elderly patients with severe varus knee osteoarthritis, unicompartmental knee arthroplasty (UKA) demonstrates comparable five-year clinical outcomes to total knee arthroplasty (TKA) with reduced surgical trauma and faster early recovery, although the early functional advantage of UKA is attenuated in patients with poorer preoperative extensor muscle quality as quantified by radiomics.
This study utilized latent class analysis on radiographic data from 62 patients with osteogenesis imperfecta to identify two distinct spinal deformity phenotypes (severe and moderate), suggesting that this probabilistic classification approach could enhance prognostic assessment and guide individualized treatment strategies.
This study of Korean adults demonstrates that self-reported oral health measures have poor standalone validity for diagnosing periodontitis under both CDC/AAP and EFP/AAP case definitions, as they primarily reflect perceived inflammation rather than cumulative periodontal destruction.
This study proposes a Genetic Algorithm-based Voting ensemble learning model (GA-Voting) that integrates power spectral density, fuzzy entropy, and phase lag index features from resting-state EEG data to achieve highly accurate (99.55%) diagnosis of schizophrenia while offering new insights into its underlying neurobiological mechanisms.
This study demonstrates that scaling up Village Health Leader–led community interventions in underserved Ethiopian agrarian and pastoralist settings is a feasible, safe, and effective strategy that significantly improves maternal and newborn health outcomes, including increased facility deliveries, reduced postpartum hemorrhage, and higher uptake of essential commodities like misoprostol and family planning.
This study demonstrates that intranasal administration of adipose-derived mesenchymal stem cell-derived exosomes engineered to deliver miR-22-3p alleviates depression-like behaviors in a rat model by inhibiting the FURIN/HMGB1 axis, thereby reducing neuroinflammation and neuronal apoptosis.
This contemporary study validates Hekal's "5-Not's" criteria as a reliable, high-specificity framework for identifying ideal candidates for stentless endoscopic urinary stone management, demonstrating that while the criteria effectively confirm suitability for stent-free recovery, they should not be used as an exclusive screening tool to rule out patients who fail to meet all five conditions.