Strabismus refers to an abnormal alignment of the eyes leading to the loss of central binocular vision. Concomitant strabismus occurs when the angle of deviation is constant in all positions of gaze and often manifests in early childhood when it is considered to be a neurodevelopmental disorder of the visual system. As such, it is inherited as a complex genetic trait, affecting 2-4% of the population. A genome-wide association study (GWAS) for self-reported strabismus (1345 cases and 65,349 controls from UK Biobank) revealed a single genome-wide significant locus on chromosome 17q25. Approximately 20 variants across the NPLOC4-TSPAN10-PDE6G gene cluster and in almost perfect linkage disequilibrium (LD) were most strongly associated (lead variant: rs75078292, OR = 1.26, p = 2.24E−08). A recessive model provided a better fit to the data than an additive model. Association with strabismus was independent of refractive error, and the degree of association with strabismus was minimally attenuated after adjustment for amblyopia. The association with strabismus was replicated in an independent cohort of clinician-diagnosed children aged 7 years old (116 cases and 5084 controls; OR = 1.85, p = 0.009). The associated variants included 2 strong candidate causal variants predicted to have functional effects: rs6420484, which substitutes tyrosine for a conserved cysteine (C177Y) in the TSPAN10 gene, and a 4-bp deletion variant, rs397693108, predicted to cause a frameshift in TSPAN10. The population-attributable risk for the locus was approximately 8.4%, indicating an important role in conferring susceptibility to strabismus.
The salivary glands form a group of exocrine glands that are located in the region of the oral cavity. Non-neoplastic lesions that affect the salivary glands can comprise a number of different conditions, and may have infectious, inflammatory, traumatic, autoimmune and immunological causes. This study aimed to carry out an integrative review of the most common non-neoplastic pathologies that affect the salivary glands, highlighting their main clinical, histopathological, symptomatology, etiology and treatment manifestations. The searches were carried out through the virtual platforms BVS and PUBMED, using the terms “salivary glands”, “dentistry” and “clinical diagnosis”, through the Boolean operator “AND”. After applying the inclusion and exclusion criteria, reading the title, abstract and full article, 15 studies remained to compose this review. It is concluded that the etiology of non-neoplastic salivary gland pathologies, for the most part, remains unknown. The diagnosis of the main alterations is made by clinical analysis and the treatment for most cases is conservative.
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