Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism.

In this study, we evaluated the implementation of a second-tier genetic screening test using an amplicon-based next-generation sequencing (NGS) panel in our laboratory during the period of 1 September 2021 to 31 August 2022 for the newborn screening (NBS) of six conditions for inborn errors of metabolism: citrullinemia type II (MIM #605814), systemic primary carnitine deficiency (MIM #212140), glutaric acidemia type I (MIM #231670), beta-ketothiolase deficiency (#203750), holocarboxylase synthetase deficiency (MIM #253270) and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (MIM # 246450). The custom-designed NGS panel can detect sequence variants in the relevant genes and also specifically screen for the presence of the hotspot variant IVS16ins3kb of by the copy number variant calling algorithm. Genetic second-tier tests were performed for 1.

Dynamic Changes in Long-Standing Multiple Sclerosis Revealed by Longitudinal Structural Network Analysis Using Diffusion Tensor Imaging.

Background And Purpose: DTI can be used to derive conventional diffusion measurements, which can measure WM abnormalities in multiple sclerosis. DTI can also be used to construct structural brain networks and derive network measurements. However, few studies have compared their sensitivity in detecting brain alterations, especially in longitudinal studies.

Minimally Invasive Glaucoma Surgery in Primary Angle-Closure Glaucoma.

Primary angle-closure glaucoma (PACG) is responsible for half of the glaucoma-related blindness worldwide. Cataract surgery with or without trabeculectomy has been considered to be the first-line treatment in eyes with medically uncontrolled PACG. While minimally invasive glaucoma surgery has become an important surgical approach for primary open-angle glaucoma, its indications and benefits in PACG are less clear.

Latest Developments in Normal-Pressure Glaucoma: Diagnosis, Epidemiology, Genetics, Etiology, Causes and Mechanisms to Management.

Normal-pressure glaucoma (NPG) is part of the spectrum of the open-angle glaucomas and morphologically characterized, as any glaucoma, by a loss of neuroretinal rim parallel to an enlargement and deepening of the optic cup, and development or enlargement of parapapillary beta zone. These morphological characteristics, in addition to the therapeutic benefit of lowering the intraocular pressure (IOP), make NPG differ from vascular-induced optic neuropathy. Based on the anatomy of the optic nerve as a cerebral fascicle, the physiological counter-pressure against the IOP is the orbital cerebrospinal fluid pressure (CSFP), with both pressures forming the trans-lamina cribrosa pressure difference (TLCPD).

Degradation of methyl orange and congo red by using chitosan/polyvinyl alcohol/TiO electrospun nanofibrous membrane.

In this study, chitosan/polyvinyl alcohol/TiO nanofiber was fabricated via electrospinning at a pump rate of 1.5 mL/h and voltage 6 kV. Field-emission scanning electron microscopic images showed bead free finer nanofiber.

Non-Self-Sealing (Leaky) Anterior Chamber Paracentesis: A New Technique in Managing Postphacoemulsification Intraocular Pressure Rise in Glaucoma and Normal Eyes.

Phacoemulsification (phaco) for cataract extraction is 1 of the most commonly performed ophthalmic surgeries. With increasing evidence of significant intraocular pressure (IOP) reduction after phaco, the paradigm for glaucoma treatment has been shifting toward more cataract extraction instead of glaucoma surgery; thus, the population of glaucoma patients undergoing phaco is likely to continue to increase in the coming years. Although the safety of surgery has improved over the years with newer technologies and machines, postoperative IOP spike remains an important condition even after an uneventful operation.

Effect of deacetylation on property of electrospun chitosan/PVA nanofibrous membrane and removal of methyl orange, Fe(III) and Cr(VI) ions.

In this study, effect of degree of deacetylation on property and adsorption capacity of chitosan/polyvinyl Alcohol electrospun membrane has been investigated. Resulting nanofibers were characterized by FESEM, FTIR, XRD, TGA, tensile testing, weight loss test and adsorption test. FESEM result shows, finer nanofiber was fabricated from 42h hydrolyzed chitosan and PVA blend solution.

Adsorption of divalent heavy metal ion by mesoporous-high surface area chitosan/poly (ethylene oxide) nanofibrous membrane.

In this study, chitosan/poly (ethylene oxide) nanofibres were fabricated at different chitosan:PEO weight ratio by electrospinning process. The effects of chitosan/PEO composition onto adsorption capability for Cu(II), Zn(II) and Pb(II) ions were studied. Formation of beadless fibres were achieved at 60:40 chitosan:PEO ratio.

Preliminary results of CO2 laser-assisted sclerectomy surgery (CLASS) in the treatment of advanced glaucoma in a Chinese population.

To evaluate the efficacy and safety of CO2 laser-assisted sclerectomy surgery (CLASS) in Chinese patients with advanced glaucoma.Patients with advanced glaucoma who were candidates for glaucoma filtration surgery were included. The intraocular pressure (IOP) and number of antiglaucoma medications were documented before surgery and at all postoperative clinic visits.

Incidence and Risk Factors of Retinopathy of Prematurity From 2 Neonatal Intensive Care Units in a Hong Kong Chinese Population.

Purpose: To determine the incidence and risk factors of retinopathy of prematurity (ROP) in very low birth weight (VLBW) preterm Chinese infants.

Design: Retrospective review.

Methods: Medical records were reviewed for all neonates screened for ROP between January 2007 and December 2012 in Hong Kong.

Accuracy of Intraocular Lens Power Calculation Formulas for Highly Myopic Eyes.

Purpose. To evaluate and compare the accuracy of different intraocular lens (IOL) power calculation formulas for eyes with an axial length (AL) greater than 26.00 mm.

Efficacy and Safety of Trabectome Surgery in Chinese Open-Angle Glaucoma.

To investigate the clinical outcome of the Trabectome in Chinese open-angle glaucoma (OAG). This prospective case series recruited pseudophakic glaucoma subjects with open-angle configuration. Trabeculectomy ab interno was performed using the Trabectome to 120° of the trabecular meshwork.

A review of selective laser trabeculoplasty in the Hong Kong Chinese population.

Introduction: Selective laser trabeculoplasty was first introduced to Hong Kong in 2004 for intra-ocular pressure lowering in the treatment of primary glaucoma. Since then, it has gained popularity as an alternative to anti-glaucoma medications and as a bridging therapy prior to more invasive glaucoma surgeries because of the high safety profile of the laser.

Methods: An Ovid search was performed using "selective laser trabeculoplasty" as the key word, which identified 190 unique articles; 24 reviews and/or meta-analyses were excluded.

Assessment of corneal biomechanical parameters in myopes and emmetropes using the Corvis ST.

Background: Prior studies have demonstrated conflicting results regarding the relationship between corneal biomechanical properties and refractive error. Thus, the purpose of this study was to compare the corneal biomechanical parameters of myopes and emmetropes.

Methods: Ninety-four subjects with varying degrees of myopia (aged 29 to 74 years, spherical equivalent [SE] -0.

MicroPulse Laser Trabeculoplasty for the Treatment of Open-Angle Glaucoma.

The aim of the study was to investigate the safety and efficacy of using MLT in the treatment of open-angle glaucoma (OAG).This prospective cohort included subjects ≥18 years of age with OAG, defined as the open angle on gonioscopy with glaucomatous optic neuropathy evident from optical coherence tomography. Subjects with IOP < 21 mm Hg were classified as normal tension glaucoma and those with IOP ≥21 mm Hg were classified as primary open-angle glaucoma.

Developments in laser trabeculoplasty.

Laser trabeculoplasty has an increasing important role in the management of glaucoma as more emphasis is placed on minimally invasive therapies. In recent years, the following laser trabeculoplasty technologies have been introduced: micropulse laser trabeculoplasty, titanium-sapphire laser trabeculoplasty and pattern scanning trabeculoplasty. These lasers help to reduce the intraocular pressure (IOP) and the burden of glaucoma medical therapy.

Relationship between Outer Retinal Layers Thickness and Visual Acuity in Diabetic Macular Edema.

Purpose: To investigate the correlation of outer retinal layers (ORL) thickness and visual acuity (VA) in patients with diabetic macular edema (DME).

Methods: Consecutive DME patients seen at the Retina Clinic of The University of Hong Kong were recruited for OCT assessment. The ORL thickness was defined as the distance between external limiting membrane (ELM) and retinal pigment epithelium (RPE) at the foveal center.

Central Macular Thickness in Children with Myopia, Emmetropia, and Hyperopia: An Optical Coherence Tomography Study.

Purpose: To investigate the central macular thickness (CMT) in myopic, emmetropic, and hyperopic Chinese children using Optical Coherence Tomography.

Methods: 168 right eyes of Chinese subjects aged 4-18 were divided into 3 groups based on their postcycloplegic spherical equivalent: myopes (<-1.0 D); emmetropes (≥-1.

En-face optical coherence tomography in the diagnosis and management of age-related macular degeneration and polypoidal choroidal vasculopathy.

Optical coherence tomography (OCT) is a noninvasive imaging modality providing high-resolution images of the central retina that has completely transformed the field of ophthalmology. While traditional OCT has produced longitudinal cross-sectional images, advancements in data processing have led to the development of en-face OCT, which produces transverse images of retinal and choroidal layers at any specified depth. This offers additional benefit on top of longitudinal cross-sections because it provides an extensive overview of pathological structures in a single image.

Two-Year Clinical Results After Selective Laser Trabeculoplasty for Normal Tension Glaucoma.

Unlabelled: This article aims to investigate the clinical results at 2 years after selective laser trabeculoplasty (SLT) for normal tension glaucoma (NTG). This prospective cohort study recruited NTG patients taking antiglaucoma medication. Subjects were excluded if they had previous glaucoma surgery/laser or corneal pathologies.

The Correlation of Retinal Nerve Fiber Layer Thickness With Blood Pressure in a Chinese Hypertensive Population.

To investigate the association between retinal nerve fiber layer (RNFL) thickness and blood pressure (BP) in subjects with systemic hypertension. Subjects with systemic hypertension on anti-hypertensive medications were screened by fundus photography and referred for glaucoma work-up if there was enlarged vertical cup-to-disc (VCDR) ratio ≥0.6, VCDR asymmetry ≥0.