5683 papers
This study reports a second patient with homozygous GINS2 variants causing Meier–Gorlin syndrome, expanding the clinical phenotype to include craniosynostosis and NK cell deficiency while revealing epigenetic alterations linked to skeletal and craniofacial development.
While pre-school teachers in Enugu State, Nigeria, demonstrated high willingness to conduct vision screening for children aged 3–5 years, their sensitivity in accurately detecting visual impairment was low despite high specificity.
This two-decade single-center retrospective study of 22 pediatric patients highlights the substantial clinical and biological heterogeneity of cardiac masses, demonstrating that while rhabdomyomas are often associated with tuberous sclerosis and tend to regress spontaneously, non-rhabdomyoma lesions exhibit greater pathological diversity and more frequently require surgical intervention.
Using historical data and population forecasts, this study projects that emergency department visits in Stockholm will rise substantially by 2035, driven primarily by rapid population ageing among adults aged 65 and older, necessitating strengthened geriatric-adapted care and improved coordination across healthcare levels.
This retrospective study demonstrates that obesity, particularly severe obesity, is a strong independent predictor of *Helicobacter pylori* transformation into the coccoid form and increased crypt colonization, suggesting a need for tailored diagnostic and eradication strategies in obese patients.
This study introduces a novel 3D-printed Partial Occlusion Device (POD) that serves as a stable, reusable, and fiber-free alternative to cotton-tip applicators for microsurgical anastomosis revision, demonstrating comparable efficacy and safety while offering surgeons improved stability and control in a rat femoral artery model.
This case report describes a rare instance of *Actinotignum sanguinis*-associated prosthetic aortic valve infective endocarditis in a urologically compromised elderly man, highlighting the diagnostic challenges of slow-growing anaerobes, the necessity of early surgical intervention despite pending microbiological confirmation, and the complex management of postoperative mixed shock leading to patient recovery.
This case report describes a rare instance of low-grade pancreatic intraepithelial neoplasia mimicking a branch-duct IPMN in a patient with long-standing systemic lupus erythematosus, highlighting the diagnostic limitations of conventional imaging and the severe, life-threatening postoperative complications arising from surgery in immunosuppressed patients.
This meta-research study reveals that highly influential musculoskeletal and sports physiotherapy trials frequently lack complete exercise dosage reporting and often prescribe parameters inconsistent with physiological rationale, thereby compromising the replicability and potential efficacy of these interventions.
This retrospective study of 297 culture-confirmed infection episodes at a Rwandan tertiary hospital reveals that multidrug-resistant pathogens, particularly in urinary tract infections, are prevalent among cancer patients and often resistant to commonly prescribed empirical antibiotics like ceftriaxone, highlighting an urgent need for locally informed stewardship protocols and improved data capture.