Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.

Genome analysis of individuals affected by retinitis pigmentosa (RP) identified two rare nucleotide substitutions at the same genomic location on chromosome 11 (g.61392563 [GRCh38]), 69 base pairs upstream of the start codon of the ciliopathy gene TMEM216 (c.-69G>A, c.

Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant.

Corneal dystrophies are phenotypically and genetically heterogeneous, often resulting in visual impairment caused by corneal opacification. We investigated the genetic cause of an autosomal dominant corneal stromal dystrophy in a pedigree with eight affected individuals in three generations. Affected individuals had diffuse central stromal opacity, with reduced visual acuity in older family members.

Home Oxygen After Hospitalization for COVID-19: Results From the Multi-Center OXFORD Study.

Background: In the first months of the pandemic, prior to the introduction of proven-effective treatments, 15-37% of patients hospitalized with COVID-19 were discharged on home oxygen. After proven-effective treatments for acute COVID-19 were established by evidence-based guidelines, little remains known about home oxygen requirements following hospitalization for COVID-19.

Methods: This was a retrospective, multi-center cohort study of subjects hospitalized for COVID-19 between October 2020-September 2021 at 3 academic health centers.

Changes in the Correlates for Intimate Partner Violence Against Women in Vietnam: Evidence From the 2010 and 2019 National Prevalence Surveys.

This study sought to understand whether the risk and protective factors associated with current partner violence changed in Vietnam using findings from two comparable surveys conducted in 2010 and 2019. Fifteen (2010) and 17 (2019) factors were significantly associated with violence, and the level of consistency was high-nonpartner sexual violence, respondent and partner prior abuse, men's expressions of masculinity, and indicators of low economic status continue to put women at risk. Gender-transformative approaches that address power inequalities, foster positive parenting, and promote the political and social influence of women are required and should be adapted to the Vietnam context.

An analysis of changes in the prevalence and patterns of intimate partner violence against women in seven Asian countries.

Background: Assessments of changes in prevalence and patterns of violence against women are critical to inform prevention and response approaches and to monitor progress towards elimination. Most countries in the Asia Region have data on violence and several have completed second and third waves of surveys. This study sought to assess and compare the prevalence and patterns of physical and/or sexual partner violence in seven Asian countries with at least two rounds of comparable national-level data.

An assessment of Veterans attitudes and willingness to receiving the COVID-19 vaccine: a mixed methods study.

Background: While several safe and effective COVID-19 vaccines have been available since December 2020, many eligible individuals choose to remain unvaccinated. This vaccine hesitancy is an important factor affecting our ability to combat the COVID-19 pandemic.

Methods: The objective of the study was to examine the attitudes and willingness among US Veterans toward receiving COVID-19 vaccination.

New domiciliary supplemental oxygen therapy after hospitalisation for COVID-19 in metropolitan Chicago.

Background: A knowledge gap exists in understanding the beneficial use and duration of domiciliary supplemental oxygen (DSO) therapy among survivors of coronavirus disease 2019 (COVID-19) hospitalisations with persistent hypoxaemia upon discharge. The purpose of this single centre study was to begin to address this issue.

Methods: In this retrospective study we report features of US military veterans residing in metropolitan Chicago with no prior DSO therapy who survived COVID-19 hospitalisation, were discharged on DSO and were followed for 6 months.

A Review of Usability Evaluation Methods and Their Use for Testing eHealth HIV Interventions.

Purpose Of Review: To provide a comprehensive review of usability testing of eHealth interventions for HIV.

Recent Findings: We identified 28 articles that assessed the usability of eHealth interventions for HIV, most of which were published within the past 3 years. The majority of the eHealth interventions for HIV was developed on a mobile platform and focused on HIV prevention as the intended health outcome.

Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations.

Purpose: To assess residual cone structure in subjects with mutations in exon 2, 3, and 4 of the OPN1LW or OPN1MW opsin.

Methods: Thirteen males had their OPN1LW/OPN1MW opsin genes characterized. The cone mosaic was imaged using both confocal and nonconfocal split-detection adaptive optics scanning light ophthalmoscopy (AOSLO), and retinal thickness was evaluated using optical coherence tomography (OCT).

Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.

Retinal dystrophies are a heterogeneous group of disorders of visual function leading to partial or complete blindness. We report the genetic basis of an unusual retinal dystrophy in five families with affected females and no affected males. Heterozygous missense variants were identified in the X-linked phosphoribosyl pyrophosphate synthetase 1 (PRPS1) gene: c.

Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency.

Purpose: Mutations in the coding sequence of the L and M opsin genes are often associated with X-linked cone dysfunction (such as Bornholm Eye Disease, BED), though the exact color vision phenotype associated with these disorders is variable. We examined individuals with L/M opsin gene mutations to clarify the link between color vision deficiency and cone dysfunction.

Methods: We recruited 17 males for imaging.

Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.

Mutations in the OPN1LW (L-) and OPN1MW (M-)cone opsin genes underlie a spectrum of cone photoreceptor defects from stationary loss of color vision to progressive retinal degeneration. Genotypes of 22 families with a range of cone disorders were grouped into three classes: deletions of the locus control region (LCR); missense mutation (p.Cys203Arg) in an L-/M-hybrid gene; and exon 3 single-nucleotide polymorphism (SNP) interchange haplotypes in an otherwise normal gene array.

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.

We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a reliable clinical diagnostic tool to distinguish between MGC1 and primary congenital glaucoma (PCG). Megalocornea is also a feature of Neuhäuser or megalocornea-mental retardation (MMR) syndrome, a rare condition of unknown etiology.

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.

Human X-linked blue-cone monochromacy (BCM), a disabling congenital visual disorder of cone photoreceptors, is a candidate disease for gene augmentation therapy. BCM is caused by either mutations in the red (OPN1LW) and green (OPN1MW) cone photoreceptor opsin gene array or large deletions encompassing portions of the gene array and upstream regulatory sequences that would predict a lack of red or green opsin expression. The fate of opsin-deficient cone cells is unknown.

Retinal dysfunction and high myopia in association with 48,XXYY syndrome.

Purpose: 48,XXYY syndrome was first described in 1964 and approximately 100 cases have been reported in the literature. We report a case of 48,XXYY syndrome associated with high myopia and retinal dysfunction.

Methods: Case report.

Spectroscopic and computational characterization of the NO adduct of substrate-bound Fe(II) cysteine dioxygenase: insights into the mechanism of O2 activation.

Cysteine dioxygenase (CDO) is a mononuclear nonheme iron(II)-dependent enzyme critical for maintaining appropriate cysteine (Cys) and taurine levels in eukaryotic systems. Because CDO possesses both an unusual 3-His facial ligation sphere to the iron center and a rare Cys-Tyr cross-link near the active site, the mechanism by which it converts Cys and molecular oxygen to cysteine sulfinic acid is of broad interest. However, as of yet, direct experimental support for any of the proposed mechanisms is still lacking.

The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.

Purpose: To evaluate retinal structure and photoreceptor mosaic integrity in subjects with OPN1LW and OPN1MW mutations.

Methods: Eleven subjects were recruited, eight of whom have been previously described. Cone and rod density was measured using images of the photoreceptor mosaic obtained from an adaptive optics scanning light ophthalmoscope (AOSLO).

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

X-linked retinitis pigmentosa (XLRP) is genetically heterogeneous with two causative genes identified, RPGR and RP2. We previously mapped a locus for a severe form of XLRP, RP23, to a 10.71 Mb interval on Xp22.

Effective analgesia using physical interventions for infant immunizations.

Background: To measure the analgesic effectiveness of the 5 S's (swaddling, side/stomach position, shushing, swinging, and sucking) alone and combined with sucrose, during routine immunizations at 2 and 4 months.

Methods: We conducted a prospective, randomized, placebo-controlled trial with 2- and 4-month-old infants during well-child visits. Patients were assigned into 4 groups (2 × 2) receiving either 2 mL of water or 2 mL of 24% oral sucrose and then either standard-of-care comfort measures by parents or intervention with the 5 S's immediately postvaccination.

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.

X-linked megalocornea (MGC1) is an ocular anterior segment disorder characterized by an increased cornea diameter and deep anterior chamber evident at birth and later onset of mosaic corneal degeneration (shagreen), arcus juvenilis, and presenile cataracts. We identified copy-number variation, frameshift, missense, splice-site and nonsense mutations in the Chordin-like 1 gene (CHRDL1) on Xq23 as the cause of the condition in seven MGC1 families. CHRDL1 encodes ventroptin, a bone morphogenic protein antagonist with a proposed role in specification of topographic retinotectal projections.

X-linked cone dystrophy caused by mutation of the red and green cone opsins.

X-linked cone and cone-rod dystrophies (XLCOD and XLCORD) are a heterogeneous group of progressive disorders that solely or primarily affect cone photoreceptors. Mutations in exon ORF15 of the RPGR gene are the most common underlying cause. In a previous study, we excluded RPGR exon ORF15 in some families with XLCOD.