The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis.

Up to 25% of pediatric cataract cases are inherited. There is sparse information in the literature regarding the cost of whole-exome sequencing (WES) for suspected hereditary pediatric cataracts. Molecular diagnosis of suspected hereditary pediatric cataracts is important for comprehensive genetic counseling.

[Depression, anxiety, stress, and social support: a cross-sectional study with caregivers of visually impaired children in Rio de Janeiro, Brazil - Views-QoL Study].

We aimed to identify the reports of symptoms of depression, anxiety, and stress among caregivers of children without visual impairment, with low vision, and with blindness and their relationship with the degree of social, emotional, material, and affective support. This cross-sectional and multicenter study was conducted in the municipality of Rio de Janeiro, Brazil, from 2019 to 2020. A questionnaire was applied to obtain caregivers' sociodemographic and economic data.

Evaluation and monitoring of eye findings in children exposed to Zika virus during gestation: 3 years of follow-up.

Introduction: Congenital Zika syndrome (CZS) is a recently described disease. Our main objective was to evaluate and monitor, over 3 years, the ophthalmoscopic findings in children exposed to zika virus (ZIKV) during gestation.

Methods: This prospective observational study was conducted in Rio de Janeiro, Brazil, between April 2016 and May 2019.

Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families.

Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare, frequently misdiagnosed, autosomal dominant disease caused by mutations in the gene. It causes bilateral pediatric cataract and hyperferritinemia without iron overload. The objective of this case series, describing three Brazilian families, is to increase awareness of HHCS, as well as to discuss possible phenotypic interactions with concurrent mutations in , the gene associated with autosomal recessive inheritance hereditary hemochromatosis.

Current practices and profiles of ophthalmologists involved in retinopathy of prematurity care in Brazil.

Retinopathy of prematurity (ROP) care in Brazil varies in availability of resources and infrastructure. A cross-sectional survey was conducted among ophthalmologists of the Brazilian ROP Group (BRA-ROP) to assess the profiles and practices of ophthalmologists involved in ROP care. A total of 78 responses of BRA-ROP participants (79%) were included.

Acquired Hip Dysplasia in Children with Congenital Zika Virus Infection in the First Four Years of Life.

Acquired hip dysplasia has been described in children with cerebral palsy (CP); periodic surveillance is recommended in this population to prevent hip displacement and dislocation. Children with congenital zika syndrome (CZS) may present a spectrum of neurological impairments with changes in tonus, posture, and movement similar to children with CP. However, the relationship between CZS and hip dysplasia has not been characterized.

Visual Acuity alterations in heavily impaired Congenital Zika Syndrome (CZS) children.

Introduction: This study aimed to assess visual acuity (VA) in Congenital Zika Syndrome (CZS)-children to evaluate visual loss. To that end we evaluated 41 CZS - children, from Rio de Janeiro using Teller Acuity Cards.

Methods: To asses VA, we evaluated 41 CZS - children, from Rio de Janeiro using Teller Acuity Cards.

Evaluation of childhood cataract characteristics at a tertiary referral center.

Purpose: To examine the epidemiological characteristics of children undergoing cataract surgery at a referral center in Sao Paulo State, Brazil, as well as the facts surrounding treatment delays.

Methods: In this transversal observational study, 240 operated eyes from 178 children undergoing cataract surgery were reviewed. The following aspects were analyzed: epidemiological and clinical characteristics, parental observations, red reflex test, operated eye, and age at cataract diagnosis and surgery.

Anthropometric Parameters of Children with Congenital Zika Virus Exposure in the First Three Years of Life.

Little is known about the impact of congenital Zika virus (ZIKV) exposure on growth in the first years of life. In this prospective cohort study,201 ZIKV antenatally-exposed children were followed at a tertiary referral center in Rio de Janeiro, Brazil. Eighty-seven were classified as congenital Zika syndrome (CZS) patients and 114 as not congenital Zika syndrome (NCZS); growth parameters were described and compared between groups and with WHO standard growth curves.

Cost-Utility Analysis of Wide-Field Imaging as an Auxiliary Technology for Retinopathy of Prematurity Care in Brazil.

To evaluate the cost-utility of wide-field imaging (WFI) as a complementary technology for retinopathy of prematurity (ROP) screening from the Brazilian Unified Health System's perspective. ROP is one of the leading causes of avoidable childhood blindness worldwide, especially in middle-income countries. The current ROP screening involves indirect binocular ophthalmoscopy (IBO) by ROP expert ophthalmologists.

Brazilian guidelines on the frequency of ophthalmic assessment and recommended examinations in healthy children younger than 5 years.

Purpose: To provide guidance on the frequency and components of eye examinations for healthy children aged 0 to 5 years.

Methods: These guidelines were developed based on the medical literature and clinical experience of an expert committee. PubMed/Medline searches were performed, with selected publications not restricted to systematic reviews, randomized controlled trials, or observational studies.

Novel Mutation in Causing Pediatric Cataract and Microphthalmia.

Up to 25% of pediatric cataract cases are inherited, with half of the known mutant genes belonging to the crystallin family. Within these, crystallin beta B3 () has the smallest number of reported variants. Clinical ophthalmological and genetic-dysmorphological evaluation were performed in three autosomal dominant family members with pediatric cataract and microphthalmia, as well as one unaffected family member.

Why Did ZIKV Perinatal Outcomes Differ in Distinct Regions of Brazil? An Exploratory Study of Two Cohorts.

The Zika virus (ZIKV) epidemic in Brazil occurred in regions where dengue viruses (DENV) are historically endemic. We investigated the differences in adverse pregnancy/infant outcomes in two cohorts comprising 114 pregnant women with PCR-confirmed ZIKV infection in Rio de Janeiro, Southeastern Brazil ( = 50) and Manaus, in the north region of the country ( = 64). Prior exposure to DENV was evaluated through plaque reduction neutralizing antibody assays (PRNT 80) and DENV IgG serologies.

Overlapping Spectrum of Retinochoroidal Scarring in Congenital Zika Virus and Toxoplasmosis Infections.

Background And Objective: Antenatal Zika virus (ZIKV) or toxoplasmosis infections may present with isolated eye abnormalities with absence of other apparent birth defects. The purpose of this article is to discuss the overlapping spectrum of clinical presentation and retinochoroidal scarring in congenital ZIKV and toxoplasmosis infections.

Patients And Methods: Prenatal ultrasound abnormalities seen from antenatal ZIKV and toxoplasmosis infections overlap and may include intracranial calcifications, microcephaly, and intrauterine growth restriction.

Discordant Zika Virus Findings in Twin Pregnancies Complicated by Antenatal Zika Virus Exposure: A Prospective Cohort.

Background: There are limited data on the natural history of antenatal Zika virus (ZIKV) exposure in twin pregnancies, especially regarding intertwin concordance of prenatal, placental, and infant outcomes.

Methods: This prospective cohort study included twin pregnancies referred to a single institution from September 2015 to June 2016 with maternal ZIKV. Polymerase chain reaction (PCR) testing of maternal, placental, and neonatal samples was performed.

Delayed childhood neurodevelopment and neurosensory alterations in the second year of life in a prospective cohort of ZIKV-exposed children.

We report neurodevelopmental outcomes in 216 infants followed since the time of PCR-confirmed maternal Zika virus (ZIKV) infection in pregnancy during the Rio de Janeiro epidemic of 2015-2016 (refs. ). Neurodevelopment was assessed by Bayley Scales of Infant and Toddler Development, third edition (Bayley-III; cognitive, language and motor domains) in 146 children and through neurodevelopment questionnaires/neurological examinations in 70 remaining children.

Association of Prenatal Ultrasonographic Findings With Adverse Neonatal Outcomes Among Pregnant Women With Zika Virus Infection in Brazil.

Importance: Congenital Zika virus infection causes a spectrum of adverse birth outcomes, including severe birth defects of the central nervous system. The association of prenatal ultrasonographic findings with adverse neonatal outcomes, beyond structural anomalies such as microcephaly, has not been described to date.

Objective: To determine whether prenatal ultrasonographic examination results are associated with abnormal neonatal outcomes in Zika virus-affected pregnancies.

The Role of Amniocentesis in the Diagnosis of Congenital Zika Syndrome.

There are limited data on amniocentesis as a diagnostic tool for congenital Zika syndrome. Here we report on a prospective cohort of 16 women with suspected Zika virus infection in a highly endemic area, and discuss the role of amniocentesis in the prenatal diagnosis of fetal Zika infection.

Visual function in infants with antenatal Zika virus exposure.

Purpose: To report the findings of a cross-sectional study of visual function in infants with confirmed or suspected antenatal Zika virus (ZIKV) infection seen at a single referral center in Rio de Janeiro.

Methods: Infants were examined following the ZIKV outbreak period at Instituto Fernandes Figueira/FIOCRUZ. Visual function was considered abnormal if an infant could not fix and follow a standardized high-contrast target (10 cm) by 3-6 months of age.

Eye Findings in Infants With Suspected or Confirmed Antenatal Zika Virus Exposure.

Unlabelled: : media-1vid110.1542/5804915134001PEDS-VA_2018-1104 OBJECTIVES: To characterize ophthalmic manifestations of confirmed or suspected antenatal Zika virus (ZIKV) exposure.

Methods: Infants with antenatal ZIKV exposure were referred for evaluation during the 2015-2016 Rio de Janeiro outbreak.

Prevalence of IgG Autoantibodies against GD3 Ganglioside in Acute Zika Virus Infection.

Zika virus (ZIKV) disease has become a global health emergency with devastating effects on public health. Recent evidences implicate the virus as an emergent neuropathological agent promoting serious pathologies of the human nervous system, that include destructive and malformation consequences such as development of ocular and fetal brain lesions, microcephaly in neonates, and Guillain-Barré syndrome (GBS) in adults. These neurological disorders of both central and peripheral nervous systems are thought to be associated to the neurotropic properties of the virus that has ability to infect neural stem cells as well as peripheral neurons, a hallmark of its pathogenicity.

Screening Criteria for Ophthalmic Manifestations of Congenital Zika Virus Infection.

Importance: Current guidelines recommend screening eye examinations for infants with microcephaly or laboratory-confirmed Zika virus infection but not for all infants potentially exposed to Zika virus in utero.

Objective: To evaluate eye findings in a cohort of infants whose mothers had polymerase chain reaction-confirmed Zika virus infection during pregnancy.

Design, Setting, And Participants: In this descriptive case series performed from January 2 through October 30, 2016, infants were examined from birth to 1 year of age by a multidisciplinary medical team, including a pediatric ophthalmologist, from Fernandes Figueira Institute, a Ministry of Health referral center for high-risk pregnancies and infectious diseases in children in Rio de Janeiro, Brazil.

Zika Virus Infection in Pregnant Women in Rio de Janeiro.

Background: Zika virus (ZIKV) has been linked to central nervous system malformations in fetuses. To characterize the spectrum of ZIKV disease in pregnant women and infants, we followed patients in Rio de Janeiro to describe clinical manifestations in mothers and repercussions of acute ZIKV infection in infants.

Methods: We enrolled pregnant women in whom a rash had developed within the previous 5 days and tested blood and urine specimens for ZIKV by reverse-transcriptase-polymerase-chain-reaction assays.