Results 161 to 170 of about 5,603 (256)

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

Successful conservative management of isolated hemiscrotal agenesis: case report. [PDF]

Urol Case Rep
Marzouki M, Ahmed YB, Ezzine R, Boukattaya M, Jlidi S.   +4 more
europepmc   +1 more source

Interpreting the structure–function relationship in high myopia‐associated glaucoma: A review

Acta Ophthalmologica, EarlyView.
Abstract Visual field (VF) interpretation in high myopia‐associated glaucoma (HMG) is challenging due to frequent structure–function discordance and coexisting myopia‐related changes. These changes may reduce the reliability of conventional structure–function mapping and increase the risk of misclassifying non‐glaucomatous VF abnormalities as ...
Ruby S. Chan, Ya Xing Wang, Jin Wook Jeoung, Jost B. Jonas, Minxin Liu, Ching‐Yu Cheng, Rachel S. Chong   +6 more
wiley   +1 more source

An Unrecognized High Incidence of Asymptomatic Uterine Torsion in Pregnancies with Adenomyosis that Complicate Cesarean Delivery. [PDF]

Reprod Sci
Yoshida Y, Iriyama T, Ariyoshi Y, Matsui H, Suzuki K, Hashimoto A, Ichinose M, Toshimitsu M, Sayama S, Seyama T, Sone K, Kumasawa K, Wada-Hiraike O, Osuga Y, Hirota Y.   +14 more
europepmc   +1 more source

Inter‐observer variability is unlikely to explain regional differences in retinopathy of prematurity in Norway

Acta Ophthalmologica, EarlyView.
Abstract Purpose To test inter‐observer variation of plus disease diagnoses among Norwegian ophthalmologists and treatment centres. Methods All ophthalmologists in Norway who make individual retinopathy of prematurity (ROP) treatment decisions were invited to grade retinal images using a web‐based image grading platform.
Dordi Austeng, Kyrre Moljord, Tora Sund Morken, Aaron S. Coyner, J. Peter Campbell   +4 more
wiley   +1 more source

Conservative management of postoperative incomplete lung torsion without reoperation: first case report with 2-year favorable outcomes. [PDF]

BMC Surg
Dai K, Zhang Y, Zhang Y, Deng Y, Lao S, Wang W.   +5 more
europepmc   +1 more source

The nitty‐gritty of vascular permeability in cancer: targeting blood endothelium to control metastases

British Journal of Pharmacology, EarlyView.
Blood vascular permeability is a hallmark of cancer and acts as an active driver of metastatic dissemination. Metastasis accounts for the vast majority of cancer deaths, yet most work has focussed on tumour‐intrinsic traits and angiogenesis, while the specific contribution of endothelial barrier regulation to intravasation and extravasation remains ...
Pierre Boucher, Mérone Da Costa Oliveira, Adrien Levesque, Alexandre Rutault, Patrick Savoyaud, Nicolas Bréchot, Stéphane Germain   +6 more
wiley   +1 more source

Contribution of contrast-enhanced ultrasound for diagnosis of adnexal torsion (COVARIAN): protocol for a randomised controlled trial. [PDF]

BMJ Open
Fijean AL, Manhertz D, Massicot L, Lecointre L, Mottet N, Raimond E, Simon E, Gabriele V, Morel O, Beaumont M, Hossu G, Bertholdt C.   +11 more
europepmc   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source