Generation of an isogenic CRISPR/Cas9-corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia with a heterozygous variant in cardiac calsequestrin-2.

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited cardiac disease characterised by adrenergic-induced arrhythmias. The leading causes of CPVT are pathogenic variants in cardiac ryanodine receptor 2 (RYR2) and rarely, in cardiac calsequestrin-2 (CASQ2) genes, which are major components of Ca handling in cardiac myocytes. This resource builds upon an established induced pluripotent stem cell line generated from a family with autosomal dominant CPVT due to a heterozygous variant in CASQ2 c.

Reduced connexin-43 expression, slow conduction and repolarisation dispersion in a model of hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is an inherited heart muscle disease that is characterised by left ventricular wall thickening, cardiomyocyte disarray and fibrosis, and is associated with arrhythmias, heart failure and sudden death. However, it is unclear to what extent the electrophysiological disturbances that lead to sudden death occur secondary to structural changes in the myocardium or as a result of HCM cardiomyocyte electrophysiology. In this study, we used an induced pluripotent stem cell model of the R403Q variant in myosin heavy chain 7 (MYH7) to study the electrophysiology of HCM cardiomyocytes in electrically coupled syncytia, revealing significant conduction slowing and increased spatial dispersion of repolarisation - both well-established substrates for arrhythmia.

Relative peripheral refraction in school children with different refractive errors using a novel multispectral refraction topographer.

Aim: To compare relative peripheral refraction (RPR) in Chinese school children with different refractive errors using multispectral refraction topography (MRT).

Methods: A total of 713 eyes of primary school children [172 emmetropia (E), 429 low myopia (LM), 80 moderate myopia (MM), and 32 low hypermetropia (LH)] aged 10 to 13y were analyzed. RPRs were measured using MRT without mydriasis.

Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392 + 3A > G splice-site variant.

Variants in the sodium voltage-gated channel alpha subunit 5 gene (SCN5A) produce variable cardiac phenotypes including Brugada syndrome, conduction disease and cardiomyopathy. These phenotypes can lead to life-threatening arrhythmias, heart failure, and sudden cardiac death. Novel variants in splice-site regions of SCN5A require functional studies to characterise their pathogenicity as they are poorly understood.

Efficacy of 0.01% atropine for myopia control in a randomized, placebo-controlled trial depends on baseline electroretinal response.

This study aimed to evaluate the efficacy of 18-month 0.01% atropine in 61 myopic children (aged 7-10) and the relationship with central retinal response (by multifocal electroretinogram [mfERG]) in a double-masked randomized placebo-controlled clinical trial. Global-flash mfERG was measured at baseline, while cycloplegic spherical equivalent refraction (SER) and axial length (AL) were measured at baseline and at 6-month intervals.

Lycium Barbarum Polysaccharides Rescue Neurodegeneration in an Acute Ocular Hypertension Rat Model Under Pre- and Posttreatment Conditions.

Purpose: To investigate the posttreatment neuronal rescue effects of Lycium barbarum polysaccharides (LBP) in an acute ocular hypertensive (AOH) model.

Methods: Intraocular pressure (IOP) was elevated manometrically to 80 mm Hg (AOH) or 15 mm Hg (sham) for 120 minutes in adult Sprague-Dawley rats. Five experimental groups were considered: Three AOH groups were pretreated with PBS (vehicle) (n = 9), LBP 1 mg/kg (n = 8), or 10 mg/kg (n = 13), and one AOH group was posttreated with LBP 10 mg/kg (n = 8), once daily.

Delay of cone degeneration in retinitis pigmentosa using a 12-month treatment with Lycium barbarum supplement.

Ethnopharmacological Relevance: Lycium barbarum L. (also known as "Goji berry"), a traditional Chinese herbal medicine, has been a common herb in the traditional Chinese pharmacopoeia for centuries. The main active component is the Lycium barbarum polysaccharides and its antioxidative effect has been widely shown to provide neuroprotection to the eye, and it would, therefore, be interesting to determine if Lycium barbarum help delay vision deterioration in patients with retinitis pigmentosa.

Subclinical Decrease in Central Inner Retinal Activity Is Associated With Myopia Development in Children.

Purpose: To investigate the characteristics of retinal electrophysiological activity in relation to early myopia development in children.

Methods: Fifty-six children aged 6 to 9 years with emmetropic refractive error (defined as ≥ -0.5 diopter [D] and ≤ +0.

Subgenomic promoter recognition by the norovirus RNA-dependent RNA polymerases.

The replication enzyme of RNA viruses must preferentially recognize their RNAs in an environment that contains an abundance of cellular RNAs. The factors responsible for specific RNA recognition are not well understood, in part because viral RNA synthesis takes place within enzyme complexes associated with modified cellular membrane compartments. Recombinant RNA-dependent RNA polymerases (RdRps) from the human norovirus and the murine norovirus (MNV) were found to preferentially recognize RNA segments that contain the promoter and a short template sequence for subgenomic RNA synthesis.

Helpfulness of nursing actions to suddenly bereaved family members in an accident and emergency setting in Hong Kong.

Background: The sudden death of a family member is always traumatic to the family. Nursing actions such as providing comfort measures and providing an opportunity to view the deceased were consistently perceived as helpful by the suddenly bereaved. Little is known about the perception of bereaved family members in Hong Kong concerning the care they received in accident and emergency (A & E) departments.