Publications by authors named "R Piscopo"
Article Synopsis
- The cohesin complex gene is linked to critical functions like chromosome segregation and DNA repair, and variants can cause disorders with distinct physical and neurological symptoms.
- Two twins with a novel de novo variant in this gene exhibited differing severity of neurodevelopmental delays, with one twin significantly more affected by behavioral and speech difficulties.
- The study suggests variability in clinical presentations related to the gene, possibly influenced by other genetic factors, such as a discovered microduplication on chromosome 15.
Background: This study evaluates the therapeutic efficacy of HAr® (a novel ophthalmic solution containing modified hyaluronic acid covalently linked to riboflavin) compared to hyaluronic acid eye drops in patients with dry eye disease (DED).
Methods: Sixteen consecutive patients with bilateral medium to severe DED were divided into two groups. Group 1 received HAr® 0.
Ocular surface staining for assessing corneal and conjunctival epithelium integrity is typically conducted using fluorescein, lissamine green, or rose Bengal dyes. Recently, a novel vital dye, REmark, based on riboflavin, has been proposed for ocular surface examination. In the management of corneal and ocular surface diseases (OSD), the use of contact lenses is integral to therapeutic strategies.
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- The CACNA1C gene is crucial for forming a component of the L-type calcium channel, and mutations in this gene are linked to several heart rhythm disorders, but recent studies also hint at neurological issues in children without heart problems.
- A detailed review investigated neurological presentations associated with CACNA1C mutations, revealing a new pathogenic variant in a child who displayed a range of neurological and physical symptoms, but no cardiac issues.
- The study underscores the need to assess the CACNA1C gene in cases of isolated neurological syndromes in children, emphasizing that the absence of heart symptoms doesn't rule out related disorders and may reveal diverse clinical manifestations.
Keratoconus is an ectatic condition characterized by gradual corneal thinning, corneal protrusion, progressive irregular astigmatism, corneal fibrosis, and visual impairment. The therapeutic options regarding improvement of visual function include glasses or soft contact lenses correction for initial stages, gas-permeable rigid contact lenses, scleral lenses, implantation of intrastromal corneal ring or corneal transplants for most advanced stages. In keratoconus cases showing disease progression corneal collagen crosslinking (CXL) has been proven to be an effective, minimally invasive and safe procedure.
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