Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.

Short-chain enoyl-coA hydratase (SCEH) deficiency due to biallelic pathogenic ECHS1 variants was first reported in 2014 in association with Leigh syndrome (LS) and increased S-(2-carboxypropyl)cysteine excretion. It is potentially treatable with a valine-restricted, high-energy diet and emergency regimen. Recently, Simon et al. described four Samoan children harbouring a hypomorphic allele (c.489G > A, p.Pro163=) associated with reduced levels of normally-spliced mRNA. This synonymous variant, missed on standard genomic testing, is prevalent in the Samoan population (allele frequency 0.17). Patients with LS and one ECHS1 variant were identified in NZ and Australian genomic and clinical databases. ECHS1 sequence data were interrogated for the c.489G > A variant and clinical data were reviewed. Thirteen patients from 10 families were identified; all had Pacific ancestry including Samoan, Maori, Cook Island Maori, and Tokelauan. All developed bilateral globus pallidi lesions, excluding one pre-symptomatic infant. Symptom onset was in early childhood, and was triggered by illness or starvation in 9/13. Four of 13 had exercise-induced dyskinesia, 9/13 optic atrophy and 6/13 nystagmus. Urine S-(2-carboxypropyl)cysteine-carnitine and other SCEH-related metabolites were normal or mildly increased. Functional studies demonstrated skipping of exon four and markedly reduced ECHS1 protein. These data provide further support for the pathogenicity of this ECHS1 variant which is also prevalent in Maori, Cook Island Maori, and Tongan populations (allele frequency 0.14-0.24). It highlights the need to search for a second variant in apparent heterozygotes with an appropriate phenotype, and has implications for genetic counselling in family members who are heterozygous for the more severe ECHS1 alleles. SYNOPSIS: Short-chain enoyl-CoA hydratase deficiency is a frequent cause of Leigh-like disease in Maori and wider-Pacific populations, due to the high carrier frequency of a hypomorphic ECHS1 variant c.489G > A, p.[Pro163=, Phe139Valfs*65] that may be overlooked by standard genomic testing.

Traumatic hyphaema in children: a retrospective and prospective study of outcomes at an Australian paediatric centre.

OBJECTIVE: This study aims to evaluate the presenting characteristics, management, outcomes and complications for paediatric traumatic hyphaema in Western Australia. METHODS AND ANALYSIS: A retrospective review of medical records was conducted for consecutive patients ≤16 years of age admitted for traumatic hyphaema to Princess Margaret Hospital for Children (Perth, Australia) between January 2002 and December 2013 (n=82). From this sample, a cohort whose injury occurred ≥5 years prior attended a prospective ocular examination (n=16). Hospital records were reviewed for patient demographics, injury details, management, visual outcomes and complications. The prospective cohort underwent examination for visual and structural outcomes. RESULTS: Most injuries (72%) resulted from projectile objects. Angle recession was present in 53% and was associated with projectiles (p=0.002). Most eyes (81%) achieved a final visual acuity of 0.3 logarithm of the minimum angle of resolution (logMAR) (20/40) or better. Age ≤5 years and posterior segment injury were significant predictors of final visual acuity poorer than 0.3 logMAR. At ≥5 years post-trauma, injured eyes had greater intraocular pressure (IOP) (p=0.024) and anterior chamber depth (ACD) (p=0.022) compared with sound eyes. IOP asymmetry was associated with angle recession (p=0.008) and ACD asymmetry (p=0.012). CONCLUSION: Poorer visual outcomes are associated with younger age at injury and posterior segment injury. Angle recession and ACD asymmetry are associated with IOP asymmetry 5-12 years after injury.

Use of polymerase chain reaction (PCR) in the diagnosis of congenital toxoplasmosis.

Congenital toxoplasmosis (CT) is a parasitic disease that causes serious fetal and neonatal harm or death. In countries that do not have antenatal screening programs, the initiation of CT treatment relies on a postnatal diagnosis. Until recently, diagnosis was based on clinical signs and immunoglobulin seropositivity, which is fraught with difficulty. In these cases, diagnosis was often delayed or treatment, which carries risk, started empirically. We highlight the use of polymerase chain reaction to diagnose a case of congenital toxoplasmosis, allowing early treatment and justifying the treatment burden.

Refractive and visual outcomes after surgery for pediatric traumatic cataract.

PURPOSE: To describe refractive and visual outcomes of pediatric traumatic cataract requiring surgery and evaluate the factors influencing success. SETTING: Hospital for Sick Children, Toronto, Ontario, Canada. DESIGN: Retrospective case series. METHODS: Charts of children having lensectomy for traumatic cataract between January 1, 2000, and June 30, 2015, were reviewed for demographic information, visual and refractive outcomes, complications, and surgical details. RESULTS: One hundred six children (mean age 7.6 years ± 3.9 [SD]) were included. The median follow-up was 41 months (range 3 to 155 months). Seventy-nine children had open-globe injuries and 27 had closed-globe injuries. Patients with open-globe injuries were younger than those with closed-globe injuries (mean age 6.9 versus 10.4 years; P < .05). The final corrected distance visual acuity (CDVA) was 20/40 or better in 47 children. In the 94 children who had intraocular lens placement, 54% with open-globe injuries and 55% with closed-globe injuries achieved a mean absolute prediction error of 1.0 diopter or less in the early postoperative period. Open-globe injuries and amblyopia were associated with worse visual outcomes (odds ratio [OR], 2.8 and P = .03 versus OR, 2.4 and P = .04) and refractive outcomes (OR, 3.1 and P = .02 versus OR, 3.8 and P = .04). Age younger than 5 years was associated with worse refractive outcomes (OR, 2.88; P = .02). CONCLUSIONS: Children requiring surgery for traumatic cataract can have good visual and refractive outcomes. Those with open-globe and those with closed-globe injuries both had good early postoperative refractive accuracy. Sixty-three percent of children with closed-globe injuries attained a CDVA of 20/40 or better at the final follow-up.

Paediatric ocular and adnexal injuries requiring hospitalisation in Western Australia.

BACKGROUND: The aim was to investigate the characteristics and outcomes of ocular and adnexal injuries requiring hospitalisation in children in Perth, Western Australia. METHODS: This is a hospital-based retrospective review of children admitted to Princess Margaret Hospital for Children with diagnoses of ocular and/or adnexal trauma from 2002-2013. Hospital charts were reviewed for demographic information, injury and management details, follow-up and visual outcome. Final visual acuity was categorised into three groups: 6/12 or better, from 6/12 to 6/60, worse than 6/60. Ordinal logistic regression was used to compute odds ratios and predicted probabilities for each category of final visual outcome. RESULTS: Over the 12-year time period, 482 children were admitted with ocular or adnexal injuries - an average of 40 admissions per year. The mean age of the cohort was 7.1 years (range 0.09 to 16.47 years) with a male to female ratio of 2.6:1.0. There were 185 closed-globe injuries, 72 open-globe injuries and 293 adnexal injuries. Fourteen per cent of the cohort sustained a combined globe and adnexal injury. Children in the up to five-year age group were most susceptible to injury. Eighty-two per cent of the group had a final visual acuity of 6/12 or better. Factors associated with poor visual outcomes included younger age (p < 0.01), open-globe injury (p < 0.01) and lens injury (p < 0.01). CONCLUSIONS: Based on the outcomes of our review, paediatric ocular and adnexal trauma are significant causes for hospital attendance in childhood. Identifying associated risk factors will help develop injury prevention strategies to promote eye safety for children.

Sports-related eye and adnexal injuries in the Western Australian paediatric population.

PURPOSE: To identify the causes of sports-related eye and adnexal injuries in children in Perth, Western Australia, to determine which sporting activities pose the highest risk of eye and adnexal injury to children. METHODS: We performed a 12-year retrospective review of children admitted to hospital from 2002 to 2013 with sports-related ocular and adnexal eye injuries. The main outcome measures were the cause and type of ocular and adnexal injuries, age and gender risk factors. RESULTS: A total of 93 cases of sports-related ocular and adnexal injury were identified in the 12-year time period. A peak in injuries occurred for 12- to 14-year-olds with a second peak in 6- to 8-year-olds; the median age was 8.82 years (range = 1.59-16.47). Cycling, football (including soccer and Australian Rules Football), tennis, trampolining, fishing and swimming were the sports responsible for the greatest number of injuries, a total of 63%. More than one-third (35%) of injuries resulted from being struck by a blunt object, and more than a quarter (26%) were as a result of contact with a blunt projectile. CONCLUSION: Serious ocular and adnexal injuries have occurred in children as a result of participating in sports, with cycling and football being the largest contributors in the 12-year period we assessed. As we continue to encourage children to spend more time participating in sports and recreational activities, identifying associated risk factors will help us develop injury prevention strategies to promote eye safety for children.

Eye Injury Prevention for the Pediatric Population.

Each year an estimated 3.3 to 5.7 million pediatric eye injuries occur worldwide. It is widely reported that 90% of ocular injuries are preventable. Our aim was to identify legislation and policies, education, and mandatory eye protection strategies that have successfully contributed to reducing rates of children's eye injuries. A literature search was conducted using the terms "pediatric" or "children" or "adolescent" and "ocular" or "eye" and "protection" or "injury prevention." Articles were retrieved based on titles and abstracts and assessed in the context of our research question. Strategies identified aimed at reducing ocular trauma fell into 3 broad categories: legislation and policies, education, and personal eye protection. Policies including restrictions on the sale and supply of certain consumer products, mandatory vehicle seatbelts, and laminated windscreens in vehicles have assisted in reducing children's eye injuries. Educational tools aimed at children and their caregivers have been effective in changing attitudes to eye health and safety. Effective pediatric eye injury prevention systems require a multifactorial approach combining legislation, policies, standards, education, and personal eye protection to limit exposure to ocular hazards. A paucity of standardized measurement and lack of funding have limited advances in the field of children's eye injury prevention. Improved eye injury surveillance and research funding along with collaboration with health care providers are important components for strategies to prevent pediatric ocular trauma.

Animal-inflicted ocular and adnexal injuries in children: A systematic review.

Eye injury remains the leading cause of monocular blindness in children despite 90% of injuries being potentially preventable. Children interact with animals in a variety of situations, and the associated dangers may be underestimated. Animals are capable of causing ocular and adnexal injuries that are cosmetically and visually devastating. We examine the current literature regarding the nature and severity of animal-inflicted ocular and adnexal injuries in children.

New Zealand's HIV infected population under active follow-up during 2000.

AIM: To audit New Zealand's HIV infected population currently under active follow-up. METHODS: Multiple sources were used to determine anonymously the demographic and management characteristics of HIV infected individuals being monitored with HIV viral load measurements and/or receiving antiretroviral therapy during 2000. RESULTS: 593 people (480 males and 113 females) were under active follow-up. The most common transmission risk was male homosexual contact (56%) followed by heterosexual contact (28%), injecting drug use (3%) and mother to infant transmission (1%). Ethnicity data showed a disproportionate number of Africans (13%) compared to recent census figures. Anti-retroviral therapy was used in 71% of the cohort of whom 62% had HIV viral load measurements below 400 copies/mL. An upper estimate of diagnosed HIV individuals living in New Zealand at 30/9/2000 was 801. CONCLUSIONS: This is the first time that the demographic and clinical state of HIV infected individuals has been assessed throughout New Zealand. The results suggest a slightly lower number of HIV infected individuals currently living in New Zealand than previously estimated. Anti-retroviral therapy is being used effectively within the HIV infected population. The changing demographics, with a higher proportion of people under care from Africa, increasing numbers of females, and an increase in the proportion with heterosexual risk factors are particular challenges.