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Zonulopathies as Genetic Disorders of the Extracellular Matrix.
Genes (Basel)
December 2024
Department of Ophthalmology, Southend University Hospital, Southend-on-Sea SS0 0RY, UK.
The zonular fibres are formed primarily of fibrillin-1, a large extracellular matrix (ECM) glycoprotein, and also contain other constituents such as LTBP-2, ADAMTSL6, MFAP-2 and EMILIN-1, amongst others. They are critical for sight, holding the crystalline lens in place and being necessary for accommodation. Zonulopathies refer to conditions in which there is a lack or disruption of zonular support to the lens and may clinically be manifested as ectopia lens (EL)-defined as subluxation of the lens outside of the pupillary plane or frank displacement (dislocation) into the vitreous or anterior segment.
View Article and Find Full Text PDFPediatric Neuroimaging of Multiple Sclerosis and Neuroinflammatory Diseases.
Tomography
December 2024
Department of Radiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Using a pediatric-focused lens, this review article briefly summarizes the presentation of several demyelinating and neuroinflammatory diseases using conventional magnetic resonance imaging (MRI) sequences, such as T1-weighted with and without an exogenous gadolinium-based contrast agent, T2-weighted, and fluid-attenuated inversion recovery (FLAIR). These conventional sequences exploit the intrinsic properties of tissue to provide a distinct signal contrast that is useful for evaluating disease features and monitoring treatment responses in patients by characterizing lesion involvement in the central nervous system and tracking temporal features with blood-brain barrier disruption. Illustrative examples are presented for pediatric-onset multiple sclerosis and neuroinflammatory diseases.
View Article and Find Full Text PDFGenotypic and phenotypic analysis of an oculocutaneous albinism patient: a case report and review of the literature.
J Med Case Rep
December 2024
Shaanxi Eye Hospital, Xi'an People's Hospital (Xi'an Fourth Hospital), Affiliated People's Hospital, Northwest University, Xi'an, 710004, Shaanxi, China.
Background: Oculocutaneous albinism is a rare autosomal recessive disorder caused by congenital melanin deficiency, resulting in hypopigmentation of the eyes, hair, and skin. This study included a Chinese family with an oculocutaneous albinism pedigree, in which the proband presented with oculocutaneous albinismcombined with secondary angle closure, which has been rarely reported in previous literature. This article primarily focused on the clinical and genetic examination results of this patient and provided recommendations for ophthalmologist to treat patients with oculocutaneous albinism in clinical practice.
View Article and Find Full Text PDFGlycosylation Pattern of Serum Clusterin in Psoriatic Arthritis and Rheumatoid Arthritis-The Search for New Diagnostic Glycomarkers.
Int J Mol Sci
December 2024
Department of Rheumatology and Internal Medicine, Wroclaw Medical University, Borowska Street 213, 50-556 Wroclaw, Poland.
Psoriatic arthritis (PsA) and rheumatoid arthritis (RA) are connective tissue autoimmune diseases. The present study aimed to check whether serum clusterin (CLU) concentration and its glycosylation pattern may be markers differentiating these diseases-blood sera of patients with PsA (n = 37), RA (n = 34), and healthy subjects (control, n = 21) were examined. CLU concentration was measured using the ELISA test.
View Article and Find Full Text PDFWES and Transcriptome Analysis Identifies FN1 as a Candidate Gene for Anterior Segment Dysgenesis.
J Gene Med
December 2024
Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China.
Article Synopsis
- The study investigates a Chinese family over three generations affected by anterior segment dysgenesis (ASD) disorders, identifying multiple associated genes and biological pathways.
- Through methods such as whole exome sequencing and transcriptomic analysis, researchers discovered a specific mutation in the FN1 gene linked to the ASD patients, which was absent in healthy family members.
- The results also highlighted significant changes in gene expression, revealing 909 differentially expressed genes that play roles in crucial biological processes like focal adhesion and immune system interactions.
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