Results 41 to 50 of about 3,283 (186)

A CASE OF LATE DIAGNOSIS OF MARFAN SYNDROME

Žurnal Grodnenskogo Gosudarstvennogo Medicinskogo Universiteta, 2019
Background. Marfan syndrome (MS) is a hereditary connective tissue disease (HCTD), which is accompanied by the development of aortic aneurism, ectopia lentis and signs of systemic involvement of connective tissue with high risk of fatal outcome in young ...
Shelkovich Yu. Ya., Shyshko V. I., Snitko V. N., Kavalenia P. A., Larionova I. N., Gorbacheva S. V.   +5 more
doaj   +1 more source

Allosteric Inhibition of Polycomb Repressive Complex 2 by an EZH2‐Selective Small Molecule Inhibitor

Advanced Science, EarlyView.
The study characterizes C36, a highly selective EZH2/PRC2 inhibitor that acts via a novel allosteric mechanism. Unlike previous inhibitors, C36 inhibits EZH2/PRC2 by disrupting the allosteric communication between EZH2 and EED in a SAM‐noncompetitive manner.
Ting Cao, Dongdong Liu, Haishan Gao, Chenyang Qin, Wen Zhang, Ziyun Lu, Dongxia Tan, Yuxiu Qu, Yusong Liu, Zhiran Zou, Hongtao Yu, Wei Qi   +11 more
wiley   +1 more source

Iris-claw intraocular lens implantation in children with ectopia lentis

, 2017
Purpose: Artisan iris-claw lens implantation (AICLI) is a surgical technique for treating ectopia lentis. We aimed to compare visual outcomes and possible long-term complications of AICLI surgery in pediatric patients with ectopia lentis with or without ...
Ahmet Tuncer Özmen (5763344), Muhammer Özgür Çevik (5763341), Sadık Görkem Çevik (5760653)   +2 more
core   +1 more source

ZNF33B Promotes Japanese Encephalitis Virus Infection by Regulating the Stability of M6A‐Modified Trim25 to Control the Autophagy Process

Advanced Science, EarlyView.
Upon JEV infection, ZNF33B recruits METTL14 to stabilize the METTL3‐METTL14 m6A methyltransferase complex, leading to increased m6A modification of host transcripts, including Trim25 mRNA. ZNF33B selectively binds m6A‐modified sites on Trim25 mRNA and accelerates its decay, resulting in reduced TRIM25 protein abundance.
Jian Du, Chunwei Li, Jiyuan Luo, Huizhi Zhang, Jinyan Zhang, Suya Wang, Huanchun Chen, Hongli Xu, Xiangmin Li, Ping Qian   +9 more
wiley   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Ectopia lentis in Marfan syndrome

PAMJ Clinical Medicine, 2020
We report the case of a 6-year-old-child, with history of mitral valve disease, he was diagnosed suffering from Marfan syndrome. He was brought to ophtalmological consultation for decreased visual acuity.
Narjisse Taouri, Nourdine Boutimzine
doaj   +1 more source

Síndrome de marfán con malformación ósea tipo pectus carinatum: reporte de un caso en Cartagena de indias. Colombia

Revista Ciencias Biomédicas, 2020
El síndrome de Marfán (MFS) es la enfermedad del tejido conectivo más común de origen  genético, con transmisión hereditaria autosómica dominante. La mutación se localiza en el gen  FBN1 que codifica para la proteína Fibrilina-1.
Dacia I. Malambo García, Gustavo J. Mora García, José C. Pomares Estrada, Cristian Gómez García (q.e.p.d.), Doris E. Gómez Camargo   +4 more
doaj   +1 more source

Endoscopy-guided in vivo evaluation of ciliary sulcus location in children with ectopia lentis

Journal of International Medical Research, 2021
Objective To assess a new method to measure the distance of the needle passage from the ciliary sulcus to the corneal limbus anterior border (CTC) in eyes with ectopia lentis directly in vivo via endoscopy and to further evaluate the correlations among ...
Jing Yang, Zhirong Wang, Qianzhong Cao, Yiyao Wang, Jieyi Wu, Zhangkai Lian, Danying Zheng   +6 more
doaj   +1 more source

Delay in Diagnosis of Classical Homocystinuria

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Classical homocystinuria (HCU) is an autosomal recessive disorder of methionine metabolism with a wide spectrum of severity and clinical presentation. Timely diagnosis facilitates prompt initiation of treatment, which reduces complications. Our aim was to identify the nature of the first clinical manifestation and time to subsequent diagnosis ...
Subadra Wanninayake, Reena Sharma, Diane Green, John Bassett, Tarekegn Geberhiwot, Charlotte Dawson   +5 more
wiley   +1 more source

Alternative diagnoses with ectopia lentis [PDF]

Eye, 2011
Sir, We read with great interest the case presented by Moore et al,1 suggesting a correlation between Sturge–Weber syndrome and ectopia lentis. As the authors discuss, the ophthalmic features of Sturge–Weber syndrome do not classically include ectopia lentis, with only two previous reports of such an association.2, 3 The first of these reports is ...
A, Chandra, J A, Aragon Martin, A H, Child, G, Arno, D G, Charteris   +4 more
openaire   +2 more sources