Introduction To evaluate the efficacy and safety of myopia control using a multifocal soft contact lens designed with high peripheral add power in schoolchildren. Methods This 1-year multi-center, prospective, randomized, double-blind, controlled study enrolled myopic schoolchildren aged 6–15 years with refractive errors between − 1.0 D and − 10.0 D. Each participant was randomly allocated to wear a daily disposable multifocal soft contact lens as the treatment in one eye and a single-vision soft contact lens as the control in the other eye. The primary endpoints were changes in the cycloplegic spherical equivalent (SE) and axial length at 1 year. Results Fifty-two of the 59 participants (88.1%) completed the study protocol. The mean change in SE was − 0.73 ± 0.40 D in the treatment group. and − 0.85 ± 0.51 D in the control group (mean difference: − 0.12 ± 0.34 D, p = 0.012). The mean change in axial length was 0.25 ± 0.14 mm in the treatment group, and 0.33 ± 0.17 mm in the control group (mean difference: 0.08 ± 0.10 mm, p < 0.001). The treatment was well tolerated, and no serious adverse events were observed. Conclusions Treatment with multifocal soft contact lenses with high peripheral add power was effective in controlling the progression of myopia and axial length elongation in myopic schoolchildren.
27 November 2024 in European Journal of Human Genetics
De novo synthesis of purines (DNPS) is a biochemical pathway that provides the purine bases for synthesis of essential biomolecules such as nucleic acids, energy transfer molecules, signaling molecules and various cofactors. Inborn errors of DNPS enzymes present with a wide spectrum of neurodevelopmental and neuromuscular abnormalities and accumulation of characteristic metabolic intermediates of the DNPS in body fluids and tissues. In this study, we present the second case of PAICS deficiency due to bi-allelic variants of PAICS gene encoding for a missense p.Ser179Pro and truncated p.Arg403Ter forms of the PAICS proteins. Two affected individuals were born at term after an uncomplicated pregnancy and delivery and presented later in life with progressive cerebral atrophy, epileptic encephalopathy, psychomotor retardation, and retinopathy. Plasma and urinary concentrations of dephosphorylated substrates of PAICS, AIr and CAIr were elevated, though they remained undetectable in skin fibroblasts. Both variants affect structural domains in SAICARs catalytic site and the oligomerization interface. In silico modeling predicted negative effects on PAICS oligomerization, enzyme stability and enzymatic activity. Consistent with these findings, affected skin fibroblasts were devoid of PAICS protein and enzyme activity. This was accompanied by alterations in contents of other DNPS proteins, which had co-localized in granular structures that are characteristic of purinosome formation. Our observation expands the clinical spectrum of PAICS deficiency from recurrent abortions and fatal neonatal form to later onset neurodevelopmental disorders. The rarity of this condition may be based on poor clinical recognition and limited access to specialized laboratory tests diagnostic for PAICS deficiency.
Strabismus is associated with amblyopia and a lower quality of life. Attention-deficit hyperactivity disorder (ADHD) is common among children and adolescents, and influences their academic, vocational, and social life. Previous studies have suggested an association between strabismus and ADHD. Using data from the Taiwan National Health Insurance Research Database between 2000 and 2010, we performed a large-scale cohort study comparing the incidence, risk factors, and severity of ADHD in children with and without strabismus. A total of 2049 patients <18 years old with newly diagnosed strabismus (esotropia: 404; exotropia: 1645) were identified, and 8196 age- and sex-matched controls without strabismus were also included. After an average of 6.5 ± 2.9 years of follow-up, the incidence of ADHD per 1000 person-years was 5.39 in the strabismus group (esotropia: 9.93; exotropia: 4.11) and 3.23 in the control group. The cumulative incidence of ADHD was significantly greater in the esotropia (hazard ratio [HR]: 2.04; 95% confidence interval [CI]:1.36–3.06; p = 0.0007) and exotropia groups (HR: 1.44; 95% CI: 1.03–2.03; p = 0.038) than in the controls. Patients with strabismus had more comorbidities than those without (p < 0.05). In summary, this large-scale study found a higher cumulative incidence of ADHD in patients with strabismus, especially in those with esotropia.
INTRODUCTION: The retinal nerve fiber layer (RNFL) or ganglion cell–inner plexiform layer (GC‐IPL) is associated with cognitive impairment. However, the relationship between retinal asymmetry and cognitive frailty (CF) remains unknown. METHODS: Two hundred twenty‐two community‐dwelling older adults were assessed starting in 2015 and underwent biennial cognitive and frailty evaluations until 2022. Retinal asymmetry was defined as the absolute interocular retinal difference. Generalized linear mixed models estimated the risk of CF over time. RESULTS: Among the participants, 158 completed the 4‐year follow‐up. Greater baseline GC‐IPL asymmetry was associated with worsening CF over time (adjusted odds ratio = 1.06; 95% confidence interval [CI] = 1.03, 1.10), with handgrip strength asymmetry significantly modifying this association ( pinteraction = 0.02). GC‐IPL asymmetry was associated with cognitive impairment ( = −1.69 × 10 −2 ; 95% CI = −3.13 × 10 −2 , −0.25 × 10 −2 ) but not with physical frailty. RNFL showed no significant association with CF. DISCUSSION: Interocular GC‐IPL asymmetry might be a new biomarker for CF in older adults. Highlights: Interocular ganglion cell–inner plexiform layer (GC‐IPL) asymmetry was associated with impaired memory–frailty, with handgrip strength asymmetry significantly modifying this association. Interocular GC‐IPL asymmetry was associated with cognitive impairment. Interocular retinal asymmetry might be a structural biomarker of cognitive frailty.
Purpose. To identify an appropriate surgical indication of epiblepharon by comparing keratopathy and astigmatism outcomes after surgical and medical treatments for epiblepharon in Asian children. Methods. Children diagnosed with epiblepharon (n = 82, age 5.93 ± 2.76 years) with >6 months of follow-up were enrolled. The clinical presentations and cycloplegic refractive status at the baseline and 3 and 6 months after treatment were compared between surgical (91 eyes from 47 children) and nonsurgical (67 eyes from 35 children) groups. The refractive and keratometric astigmatism at each time point were evaluated with vector analysis methods. For Thibos and Horner’s method, the astigmatic power vector was decomposed into horizontal and oblique meridians (J0 and J45). However, the treatment-induced astigmatism (TIA) vectors were calculated by Alpins’ method and depicted by the AstigMATIC software. Results. In the surgical and nonsurgical groups, the baseline astigmatism magnitude was similar (2.22 ± 1.39 and 2.26 ± 1.46 D, = 0.87). The rate of complete resolution of keratopathy at 6 months was 71.4% and 11.5%. The astigmatism magnitude in the surgical group differed among baseline and 3 months (2.25 ± 1.23 D) and 6 months postoperatively (1.97 ± 1.28 D) ( = 0.001). Power vector analyses confirmed a nuanced against-the-rule shift in the surgical group. This trend was especially observed in the subgroup of baseline astigmatism >2.0 D. However, the difference in the astigmatism magnitude between surgical and nonsurgical groups, even in highly astigmatic children, was not significant at 6 months. Conclusions. The improvement of keratopathy in the surgical group was greater than that in the nonsurgical group in consideration of the more advanced severity in the surgery group at baseline. Decreased with-the-rule astigmatism can be observed at 6 months postoperatively, particularly among those with greater baseline astigmatism. However, the amount of change is small, and the outcome does not differ significantly from the nonsurgical treatment. Therefore, surgical indications should majorly base on the severity of symptoms and keratopathy.
5 April 2024 in Journal of the Formosan Medical Association
Previous research on the factors associated with surgical dose-response in strabismus surgery for exotropia has yielded inconsistent results. This study determined the factors influencing surgical dose-response in exotropia patients who underwent recession and resection (R&R). Exotropia patients who underwent unilateral R&R at the National Taiwan University Hospital between 2006 and 2021 were evaluated. Deviation-angle differences in prism diopters (PD) were measured preoperatively and at 1 month postoperatively. Surgical dose-response (PD/mm) was defined as the difference in deviation angle (in PD) divided by the surgical dose in millimeters. Linear and non-linear regression models were used to evaluate the influence of variables including age, sex, axial length, and preoperative deviation on surgical dose-response. Overall, 295 patients (162 children; 133 adults) were included. Average surgical dose-response in the pediatric and adult groups was 2.82 ± 0.60 PD/mm and 3.02 ± 0.62 PD/mm, respectively. Male sex was negatively correlated with surgical dose-response in children. The surgical dose-response was larger in adults with longer axial length (>25.64 mm) and patients with larger preoperative deviation (>42.6 PD and >38.7 PD in pediatric and adult groups, respectively). Surgical dose-responses peaked at 35.1 years. Age, axial length, and preoperative deviation have a nonlinear effect on surgical dose-responses in exotropia patients undergoing R&R. Surgical dose-responses were larger in patients in young adulthood, with longer axial length and larger preoperative deviation angle. A table with fitted values for surgical dose-response based on age, axial length, and preoperative deviation was established for clinical reference.
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Department of Ophthalmology, National Taiwan University
Department of Ophthalmology, National Taiwan University