Results 91 to 100 of about 9,865 (187)

Prenatal Identification of a Novel ITGB4 Gene Mutation Associated With Junctional Epidermolysis Bullosa: A Case Report

Clinical Case Reports, Volume 14, Issue 1, January 2026.
Ultrasonographic characteristics of fetal junctional epidermolysis bullosa associated with ITGB4 gene mutation. ABSTRACT Homozygous or compound heterozygous mutations in the ITGB4 gene are associated with the pathogenesis of junctional epidermolysis bullosa, characterized by increased fragility of the skin and mucous membranes.
Qi Xu, Xiaofang Peng, Wenwen Ma, Xiaoqin Xiao, Liqiong Zhu, Na Di, Xiaojuan Li, Yinglin Liu   +7 more
wiley   +1 more source

Current Challenges of Managing Fibrosis Post Glaucoma Surgery and Future Perspectives. [PDF]

J Clin Med
Lo PF, Lim ST, Wang X, Wong TT.
europepmc   +1 more source

Pneumomediastinum and Pneumothorax as Rare Complications of Ruptured Pulmonary Hydatid Cyst: A Case Report

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Ruptured hydatid cyst should be considered when encountering spontaneous pneumothorax and pneumomediastinum, especially in young patients in regions with high prevalence of hydatid cyst. Awareness of atypical signs ensures instant diagnosis, guiding appropriate surgical and medical treatment to prevent serious complications.
Farzaneh Akbari, Farid poursadegh, Marzie Noori, Amir Hossein Jafarian, Mahnaz Mozdorian, Fariba Rezaeetalab   +5 more
wiley   +1 more source

Late-Onset Scleral Flap Injury After Trabeculectomy Successfully Repaired Using a Preserved Scleral Patch: A Report of Two Cases. [PDF]

Cureus
Okuno S, Namiguchi K, Naito T, Mizoue S, Shiraishi A.   +4 more
europepmc   +1 more source

Dual AAV gene therapy achieves recovery of hearing and auditory processing in a DFNB16 mouse model

Clinical and Translational Medicine, Volume 16, Issue 1, January 2026.
DFNB16 is among the most prevalent forms of congenital deafness, caused by mutations in the Stereocilin gene. Although no treatment currently exists, gene therapy represents a promising curative approach. Here, we demonstrate that AAV‐mediated gene delivery in a DFNB16 mouse model restored both peripheral hearing and central auditory processing ...
Sepideh Iranfar, Sophie Bagur, Chloé Felgerolle, Maxence Cornille, Najate Benamer, Hélène Le Ribeuz, Marie Giorgi, Sara Jamali, Amel Saoudi, Marie‐José Lecomte, Vincent Michel, Brice Bathellier, Saaid Safieddine   +12 more
wiley   +1 more source

Bleb morphology following mitomycin-C sponge versus subconjunctival injection in deep sclerectomy for pediatric congenital glaucoma: A case report. [PDF]

Int J Surg Case Rep
Bamefleh DA, Halawani MA, Alosaimi S, Alonazi R.   +3 more
europepmc   +1 more source

Additive effect of multiple genetic variants in SEC23B and PIEZO1 on iron metabolism dyshomeostasis in hereditary anemias

HemaSphere, Volume 10, Issue 1, January 2026.
Abstract Hereditary anemias encompass a genetically heterogeneous spectrum of disorders, often involving multi‐locus inheritance, which can complicate clinical management and worsen disease severity. This study investigates the impact of the co‐inheritance of SEC23B loss‐of‐function pathogenic variants, which lead to congenital dyserythropoietic anemia
Antonella Nostroso, Roberta Marra, Barbara Eleni Rosato, Anthony Iscaro, Federica Maria Esposito, Vanessa D'Onofrio, Manuela Dionisi, Michela Ribersani, Francesca Giordano, Anna Bulla, Giovanni Carlo Del Vecchio, Saverio Scianguetta, Giorgia Mandrile, Teresa Ceglie, Olga Scudiero, Giovanni Battista Ferrero, Silverio Perrotta, Achille Iolascon, Immacolata Andolfo, Roberta Russo   +19 more
wiley   +1 more source

Early-Onset Methicillin-Resistant Staphylococcus aureus Blebitis Following PRESERFLO™ MicroShunt Implantation: A Case Report. [PDF]

Cureus
Mieno H, Ueno M, Sotozono C.
europepmc   +1 more source

Mapping Hydration and Nanoarchitecture in mRNA‐Loaded Lipid Nanoparticles Through Small‐Angle Neutron Scattering

Small Structures, Volume 7, Issue 1, January 2026.
Using small‐angle neutron scattering (SANS) with deuterated lipid substitution and contrast variation, this work examines the core–shell structure of KC2 lipid nanoparticles, their water content and exchange properties, structural changes during heating and acidification, and compositional distribution and phase complexity via invariant analysis. These
Haikun Liu, Mark Louis P. Vidallon, Sylvain Trépout, Marina Cagnes, Nageshwar Rao Yepuri, Tamim Darwish, Mitchell J. Moon, Pengkai Shi, Aidan P. G. Walsh, Rico F. Tabor, Karlheinz Peter, Liliana de Campo, Xiaowei Wang   +12 more
wiley   +1 more source

Recanalization of the PRESERFLO MicroShunt With a 9-0 Nylon Suture: A Case Report. [PDF]

Cureus
Ishiyama M, Kitamura Y, Tatsumi T, Baba T.   +3 more
europepmc   +1 more source