Results 301 to 310 of about 182,556 (397)

Factors influencing the perception of shunt devices in children after ventriculo-peritoneal shunts. [PDF]

BMC Neurol
Wan L, Zeng K, Guo Z, Xiang W, Dong M, Chen Z, Zhang X, Wan F.   +7 more
europepmc   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Aquaporin-9 as a biomarker for hydrocephalus: Insights from experimental rat models. [PDF]

Surg Neurol Int
Kusumo C, Parenrengi MA, Suryaningtyas W, Fahmi A, Utomo B, Sudiana IK.   +5 more
europepmc   +1 more source

International Expert Opinion on Standard of Care for Patients With Schinzel‐Giedion Syndrome: A Modified Delphi Study

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Schinzel‐Giedion Syndrome (SGS) is an ultra‐rare, multisystem, genetic developmental disorder caused by gain‐of‐function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method.
Jessica Duis, Laura Agresta, William E. Bennett Jr, Henry Chambers, Antonia Clarke, Charlie Fairhurst, Julie Hoover‐Fong, Feilim Murphy, Garey Noritz, Scott Schwantes, Michael Shreve, Kabelo Thusang, Darcy Weidemann, Rebecca Beale, Aditi Mehta, Andrew Wilhelmsen, Nuala Summerfield   +16 more
wiley   +1 more source

Comparative analysis of the lumboperitoneal shunt versus ventriculoperitoneal shunt for leptomeningeal metastasis-associated hydrocephalus in non-small cell lung cancer. [PDF]

Acta Neurochir (Wien)
Kim M, Lee C, Yoon SY, Park SH, Hwang JH, Kang K, Park E, Choi S, Lee SY, Yoo SS, Chae YS, Park KS.   +11 more
europepmc   +1 more source

The human intelligence evolved from proximal cis‐regulatory saltations

Quantitative Biology, Volume 13, Issue 2, June 2025.
Abstract The divergence rate between the alignable genomes of humans and chimpanzees is as little as 1.23%. Their phenotypical difference was hypothesized to be accounted for by gene regulation. We construct the cis‐regulatory element frequency (CREF) matrix to represent the proximal regulatory sequences for each species.
Xiaojie Li, Jianhui Shi, Lei M. Li
wiley   +1 more source

Ventriculoperitoneal Shunt Infections: Causative Pathogens and Associated Outcomes from Multiple Hospitals in Saudi Arabia. [PDF]

J Clin Med
Alqasmi M, Kariri YA, Alenazy R, Thabet M, Fallata G, Alqurainy N.   +5 more
europepmc   +1 more source

Mortality in Tuberous Sclerosis Complex in the United Kingdom, 2016–2022

Journal of Intellectual Disability Research, Volume 69, Issue 6, Page 457-464, June 2025.
ABSTRACT Background Tuberous sclerosis complex (TSC) is a genetic condition caused by mutations in either TSC1 or TSC2 genes, affecting around two million people globally. This study aims to examine causes of death in TSC and explore factors contributing to mortality in people with TSC in the United Kingdom in recent years following updated management ...
Callum Richard Thomas Kidson, Ne‐Ron Loh, Yasir Ahmed Syed   +2 more
wiley   +1 more source

Clinical value of inflammatory indices in predicting poor prognosis and post-hemorrhagic hydrocephalus in patients with intraventricular hemorrhage. [PDF]

BMC Neurol
Wang H, Li Y, Ye F, Deng Z, Huang K, Li G, Chen Y, Liu Y, Zhou L.   +8 more
europepmc   +1 more source

Emerging pathological diagnostic strategies for solid pseudopapillary neoplasm of the pancreas: insights from omics and innovative techniques

The Journal of Pathology: Clinical Research, Volume 11, Issue 3, May 2025.
Abstract Solid pseudopapillary neoplasm (SPN) of the pancreas is a rare, low‐grade malignant tumor, representing 0.9–2.7% of all exocrine pancreatic tumors. SPN patients generally have a favorable prognosis with a 5‐year survival rate exceeding 95% following complete surgical resection.
Yuanhao Liu, Junya Peng, Yupei Zhao, Wenze Wang   +3 more
wiley   +1 more source