Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.

Background: Nance-Horan syndrome (NHS) is a rare, frequently underdiagnosed, X-linked disease caused by mutations in the NHS gene. In males, it causes bilateral dense pediatric cataracts, dental anomalies, and facial dysmorphisms. Females traditionally have a more subtle phenotype with discrete lens opacities as an isolated feature.

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.

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.

Molecular and Clinical Characterization of and Genes in Brazilian Patients Affected with Achromatopsia.

Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by reduced visual acuity, nystagmus, photophobia, and very poor or absent color vision. Pathogenic variants in six genes encoding proteins composing the cone phototransduction cascade (, , , , ) and of the unfolded protein response () have been related to ACHM cases, while and alone are responsible for most cases. Herein, we provide a clinical and molecular overview of 42 Brazilian patients from 38 families affected with ACHM related to biallelic pathogenic variants in the and genes.

Macular dystrophies associated with Stargardt-like phenotypes.

Purpose: Stargardt-like phenotype has been described as associated with pathogenic variants besides the ABCA4 gene. This study aimed to describe four cases with retinal appearance of Stargardt disease phenotypes and unexpected molecular findings.

Methods: This report reviewed medical records of four patients with macular dystrophy and clinical features of Stargardt disease.

Breaking bad news in ophthalmology: a literature review.

Medical specialties have recognized that breaking bad news assists clinical practice by mitigating the impact of difficult conversations. This scenario also encourages various studies on breaking bad news in ophthalmology since certain ocular diagnoses can be considered bad news. Thus, the objective is to review the scientific literature on breaking bad news in ophthalmology.

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.

Improved modification of clinoptilolite with silver using ultrasonic radiation.

The modification of natural clinoptilolite with silver ions using ultrasound has been investigated in the current work. The modification process was performed using clinoptilolite of different fractions (0-3.0 mm) over the temperature range of 25-55 °C, ultrasonic power range of 8.

ANALYSIS OF THE DIFFERENCES BETWEEN THE PRESCRIBED AND THE ADMINISTERED DIET TO PRETERM INFANTS USING AN ELECTRONIC TOO.

Objective: To create an electronic instrument in order to analyze the adequacy of the preterm infants' nutritional therapy, checking the difference between the prescribed and the administered diet.

Methods: A prospective and observational study on newborns with birthweight ≤1,500g and/or gestational age ≤32 weeks, without congenital malformations. The electronic instrument was developed based on Microsoft Excel 2010 spreadsheets and aimed at automatically calculating body weight gain, calories and macronutrients received daily by each patient from parenteral nutrition, intravenous hydration and enteral feedings.

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.

Energy expenditure, growth, and nutritional therapy in appropriate and small for gestational age preterm infants.

Objective: To evaluate the resting energy expenditure, growth, and quantity of energy and macronutrients intake in a group of preterm newborns.

Methods: The cohort study was performed with appropriate and small for gestational age preterm infants (birth weight lower than 1500g or gestational age<32 weeks). Resting energy expenditure was measured using indirect calorimetry on the 7th, 14th, 21st, and 28th days of life, and at discharge.

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.