A range of issues related to using English attributive phrases formed by the prefix + noun model in dental literature by modern scientists is considered. Such words' syntactic structure does not correspond to the disease's pathogenesis, which creates certain difficulties in terms of the perception of these syntactic constructions by General Practitioners and Pathologists Our work is devoted to finding an adequate equivalent replacement for the ingrained semantics of phrases that are implicit in nature. Using the term "discoloration", in our opinion, is due to the simplicity of explaining to the patient the change in tooth color under the influence of various exogenous and endogenous factors. Using the term 'pigment dystrophy' for dental patients is a complicated psychological factor. Therefore, there is a substitution of 'pigment dystrophy' to "discoloration" in modern dental literature. The term 'pigment dystrophy' is more pathologically and pathogenetically determined and is more suitable for explaining pathological processes in the teeth' hard tissues. There is no concept of "pigment dystrophy" and "discoloration" of teeth in the current classification of diseases World Health Organization (WHO) ICD-10. As a result of the analysis of the rules and semantics of the terms used by scientists, they are incorrect in many cases.
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J Clin Med
January 2025
Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA.
Pediatric macular disorders are a diverse group of inherited retinal diseases characterized by central vision loss due to dysfunction and degeneration of the macula, the region of the retina responsible for high-acuity vision. Common disorders in this category include Stargardt disease, Best vitelliform macular dystrophy, and X-linked retinoschisis. These conditions often manifest during childhood or adolescence, with symptoms such as progressive central vision loss, photophobia, and difficulty with fine visual tasks.
View Article and Find Full Text PDFOcul Immunol Inflamm
January 2025
Department of Neurology, University Hospital of Angers, Angers, France.
Purpose: To report the clinical presentation and follow-up, including the optical coherence tomography, angiography and electrophysiology of two individuals from the same family presenting with an isolated retinal dystrophy and optic nerve edema who were diagnosed with ROSAH-like syndrome.
Method: Observational case report of a 55-year-old woman and her 36-year-old son with a genetic analysis of ROSAH, after a long-term follow-up.
Results: Both the mother and her son displayed severe optic nerve infiltration and retinal pigment atrophy with intraocular inflammation, which were not improved by immunosuppressive treatment.
Mol Genet Genomic Med
January 2025
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea.
Background: Leber congenital amaurosis (LCA), the most severe form of inherited retinal dystrophy, is a rare, heterogeneous, genetic eye disease associated with severe congenital visual impairment. RPE65, one of the causative genes for LCA, encodes retinoid isomerohydrolase, an enzyme that plays a critical role in regenerating visual pigment in photoreceptor cells.
Methods: Exome sequencing (ES) was performed on a patient with suspected LCA.
Antioxidants (Basel)
December 2024
Development, Ageing and Disease, UCL Institute of Ophthalmology, London EC1V 9EL, UK.
Reactive oxygen species (ROS) within the retina play a key role in maintaining function and cell survival. However, excessive ROS can lead to oxidative stress, inducing dysregulation of metabolic and inflammatory pathways. The zebrafish models choroideremia (CHM), an X-linked chorioretinal dystrophy, which predominantly affects the photoreceptors, retinal pigment epithelium (RPE), and choroid.
View Article and Find Full Text PDFStem Cell Res
February 2025
Ophthalmology Research Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address:
Retinitis Pigmentosa type 25 (RP25) is a form of inherited retinal dystrophy characterized by a progressive loss of rod photoreceptors, subsequent degeneration of cone photoreceptors, and eventually, the retinal pigment epithelium. Caused by mutations in the EYS gene, it is believed to be critical for the structural and functional integrity of the retina. Using a non-integrative RNA reprogramming method, we have generated human induced pluripotent stem cell (hiPSC) lines from RP25 patient and from carriers but asymptomatic daughters.
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