Results 211 to 220 of about 30,423 (291)

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source

Reporting practices of baseline and surgical variables in spinal cavernous malformation surgery: a systematic review. [PDF]

Neurosurg Rev
Ferreira T, Naraine L, Tan JK, Malik HT, Teo MK.   +4 more
europepmc   +1 more source

Endothelial Netrin‐4 regulates oligodendrocyte precursor cell proliferation and differentiation via ET‐1 signaling in preterm white matter injury

Brain Pathology, EarlyView.
Our findings show early increased Netrin‐4 in mice with PWMI boosts angiogenesis and OPCs proliferation. Later, high levels hinder OPCs differentiation into mature cells, impairing myelination. It may act by stimulating ET‐1 secretion. Abstract Perinatal hypoxia–ischemia is a leading cause of preterm white matter injury (PWMI), yet mechanisms ...
Fuxing Dong, Weixing Yan, Qiqi Meng, Xueli Song, Bing Cheng, Yaping Liu, Yanan Liu, Chao Ren, Ruiqin Yao   +8 more
wiley   +1 more source

Pediatric chiasmatic cavernoma hemorrhage: a case report and review of the literature. [PDF]

BMC Pediatr
Tian S, Chen Y.
europepmc   +1 more source

Patient‐derived surgical samples reveal the cellular and molecular signatures of glioblastoma infiltration in distinct radiological zones

Brain Pathology, EarlyView.
Integrated histological and transcriptional profiling of the glioblastoma periphery reveals clinically relevant tumor infiltration beyond MRI‐defined boundaries. MRI‐guided biopsies from contrast‐enhancing (CE), non‐contrast‐enhancing (nCE), edema (E), and radiologically normal (N) regions demonstrate that nCE areas frequently retain neoplastic and ...
Olaya de Dios, Juan Romero, María de los Ángeles Ramírez‐González, Beatriz Herranz, Alicia Avis‐Bodas, Juliana Manosalva, Diego Megías, Ana Ramos, Juan Manuel Sepúlveda‐Sánchez, Ricardo Gargini, Berta Segura‐Collar, Gabriel Velilla, Bárbara Meléndez, Pedro González, Luis Jiménez‐Roldán, Guillermo García‐Posadas, Aurelio Hernández‐Laín, Ángel Pérez‐Núñez, Pilar Sánchez‐Gómez   +18 more
wiley   +1 more source

Hidden Triplets: Coexisting Spinal Epidural and Dural Arteriovenous Fistulae - A Rare Case Report and Literature Review. [PDF]

Vasc Health Risk Manag
Alrumaihi G, Mohammed K, Alsulaiti G.
europepmc   +1 more source

Identifying Failure Predictors in Thyroid Nodule Radiofrequency Ablation Using Multivariate Analysis: A Single‐Centre Experience

Clinical Endocrinology, EarlyView.
ABSTRACT Background Radiofrequency ablation (RFA) has become an established minimally invasive treatment for benign thyroid nodules (BTN), offering excellent safety and efficacy. However, factors predicting treatment success and post‐procedural thyroid dysfunction remain incompletely understood.
Shmuel Wechsler, Tanya Shcherbaeva, Jacob Pitaro, Limor Muallem Kalmovich   +3 more
wiley   +1 more source

Unique presentation of superficial siderosis of the central nervous system following pituitary tumor surgery: a case report and literature review. [PDF]

Front Neuroimaging
Liang T, Song J, Zhao F, Zhu W, Wei H.
europepmc   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Fetal Congenital Anomalies: Multi-Regional Magnetic Resonance Imaging Evaluation with Prenatal Ultrasound Correlation. [PDF]

Turk Arch Pediatr
Akyel NG, Ozgul H, Omac Birinci A, Arslanoglu T.   +3 more
europepmc   +1 more source