ICF and perception of functioning according to children/adolescents in follow-up with speech/language disorders.

Purpose: To characterize changes in the functioning aspects, in the perception of children and adolescents with speech and language disorders under speech-language follow-up, using the ICF.

Methods: Descriptive, analytical and longitudinal research, with a qualitative and quantitative approach, whose sample consisted of 60 children and adolescents: 30 with speech and language disorders and 30 with typical speech and language development. Data collection was carried out in two moments: beginning of the research and six months later.

Possibility of genetic therapy for inherited retinal conditions.

Objective: To evaluate the possibility of gene therapy in patients with inherited ocular conditions and established genetic diagnosis. The secondary objectives were to determine the genetic diagnostic rate and to update the list of genes for which there are ongoing clinical trials or preclinical studies that could allow for gene therapy.

Methods: Observational, retrospective, multicentric study of 177 patients with inherited ocular conditions that underwent genetic testing.

Intra-arterial chemotherapy for retinoblastoma treatment in Chile: Experience and results 2013-2020.

Objective: To establish the success rate of salvage intra-arterial chemotherapy (IAC), defined as the percentage of eyes that achieved tumoral remission and avoided enucleation. The second objective was the clinical characterization, catheterization results, and associated local and systemic complications.

Methods: Retrospective, interventional case series of 29 patients (35 eyes) with persistent or recurrent retinoblastoma.

Differences in clerkship development between public and private Brazilian medical schools: an overview.

Background: Around the world, it is very expensive to become a physician. Although public medical schools are less expensive than private medical schools, tuition fees are charged at public medical schools in the majority of countries. In Brazil, public medical schools, with the exception of municipal schools, are free.

Contributions of ICF to an integral approach in the Health Care for Children and Adolescents.

Purpose: To investigate participation, and functionality of children and adolescents with speech disorders using the International Classification of Functioning, Disability and Health (ICF).

Method: Descriptive and analytical research of qualitative and quantitative approach. The sample was composed of 30 participants with speech disorders and 30 with typical speech development.

Genetic testing for inherited ocular conditions in a developing country.

: Inherited ocular conditions are a frequent cause of blindness. Gene therapy has encouraged the development of genetic testing, currently able to detect up to 80% of mutations in contrast to the 5% sensitivity achieved a few decades ago.: One hundred sixty-three patients with suspected genetic ocular disorders who were referred to a single clinician between August 2014 and August 2019 underwent a thorough ophthalmologic examination.

Resilience and mental health problems in children and adolescents who have been victims of violence.

Objective: To understand the process of resilience (social support and resources of the family environment) and the chance of mental health problems in children and adolescents (9-16 years) who have been victims of domestic violence, assisted in specialized services (Group 1 - G1) and in school services without reports of domestic violence (Group 2 - G2).

Methods: Various semi-structured instruments were applied to the pairs (guardian and child or adolescent): the Strengths and Difficulties Questionnaire (SDQ); the Resiliency Scales for Children and Adolescents (RSCA), including Scale I (SI - sense of control), Scale II (SII - relationship skills) and Scale III (SIII - emotional reactivity); the Social Support Appraisals; the Home Environment Resources Scale and a questionnaire created by the authors to characterize the population.

Results: There was no difference in the prevalence of resilience between G1 and G2.

The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.

Purpose: To develop a comprehensive next-generation sequencing panel assay that screens genes known to cause developmental eye disorders and inherited eye disease and to evaluate its diagnostic yield in a pediatric cohort with malformations of the globe, anterior segment anomalies, childhood glaucoma, or a combination thereof.

Design: Evaluation of diagnostic test.

Participants: Two hundred seventy-seven children, 0 to 16 years of age, diagnosed with nonsyndromic or syndromic developmental eye defects without a genetic diagnosis.

Ocular manifestations of Emanuel syndrome.

Emanuel syndrome is caused by a supernumerary der(22)t(11;22) and typically manifests with intellectual disability and craniofacial dysmorphism. Ocular abnormalities have infrequently been described. We report a 36-year-old man with severe intellectual disability, aphasia, and facial dysmorphism, with high myopia and juvenile open angle glaucoma (JOAG).

A national telemedicine network for retinopathy of prematurity screening.

Purpose: To report the results of retinopathy of prematurity (ROP) screening by a telemedicine system in Chile and evaluate its usefulness for referring patients who require treatment.

Methods: Premature infants at risk of developing ROP from 11 neonatal intensive care units were included. Screening was performed on all infants born at a gestational age of <32 weeks and/or birth weight of <1500 g.

Visual outcome following bilateral non-arteritic anterior ischemic optic neuropathy: a systematic review and meta-analysis.

Background: Many patients who suffer unilateral non-arteritic anterior ischemic optic neuropathy (NAION) will eventually develop the same condition in their other eye, worrying them about losing vision in both eyes. The purpose of this meta-analysis is to determine whether it is possible to predict the visual outcome of the consecutive NAION event based on initial presentation and to compare mean visual loss of firstly versus secondly affected eyes.

Methods: A systematic review and meta-analysis of studies published between January 1st 1966 and May 31st 2016 reporting on visual acuity and/or visual field loss of both affected eyes, measured either at presentation or follow-up following bilateral NAION.

Anatomical and refractive outcomes in patients with treated retinopathy of prematurity.

Objective: To describe the anatomical and refractive outcomes after treatment with intravitreal bevacizumab or laser in a patient cohort with retinopathy of prematurity (ROP).

Methods: A multicentre, prospective, and observational study was performed on patients with ROP treated at Hospital Roberto del Río. Those patients with less than 6months of follow-up were excluded.

Families' perception of children / adolescents with language impairment through the International Classification of Functioning, Disability, and Health (ICF-CY).

Purpose: To investigate the perception of family members regarding linguistic conditions and social participation of children and adolescents with speech and language impairments using the International Classification of Functioning, Disability and Health - Children and Youth Version (ICF-CY).

Methods: Quali-quantitative approach research, in which a survey of medical records of 24 children/adolescents undergoing speech-language therapy and interviews with their family members was conducted. A descriptive analysis of the participants' profiles was performed, followed by a categorization of responses using the ICF-CY.

Bilateral retinoblastoma with one eye manifesting only posterior chamber infiltration and no retinal involvement.

We report the case of a 23-month-old girl with bilateral retinoblastoma that demonstrated absence of retinal lesions in one eye but had an isolated white tumor in the posterior chamber. Genetic testing confirmed a novel and de novo RB1 germline mutation in the proband that was not carried by her parents. After intravenous chemotherapy and brachytherapy to the eye with apparently disease-free retina, anatomic and functional preservation of the eye was achieved.

How genetics works? An illustrative case report.

In this communication, we report the case of a four year old boy who presented with reduced vision in the right eye. He had visual acuity of light perception right eye and 6/12 in the left eye and anterior segment examination was normal. Fundus examination of the right eye showed a falciform retinal fold extending from the optic nerve temporally involving the entire retina with exudates within the falciform fold and dense pigmentation peripherally.

Molecular diagnosis in patients with retinoblastoma: Report of a series of cases.

Objectives: To report the benefits of genetic diagnosis in patients with retinoblastoma.

Method: Observational study. Patients with retinoblastoma and their families were included.

[Multidisciplinary management of retinoblastoma: Experience in 37 eyes].

Objective: To report the results of the multidisciplinary management of patients with retinoblastoma, including survival, enucleation rate, and systemic chemoreduction success.

Methods: A retrospective study was conducted on 27 patients (37 eyes) diagnosed with retinoblastoma, and treated by a multidisciplinary team in San Juan de Dios Hospital. Demographic information, clinical characterization, survival, local and systemic treatments were included in the analysis.

Using cost-effective intra-arterial chemotherapy to treat retinoblastoma in Chile.

Intra-arterial chemotherapy (IAC) has proved to be an effective treatment for retinoblastoma, but can be very expensive in developing countries. We report 2 patients from Chile in whom IAC resulted in globe salvation. Both patients had their medical care provided by the public health system and had failed standard therapy.

Unusual retinal abnormalities in sisters with tetralogy of Fallot.

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease and can occur in the setting of chromosomal aberrations or multisystem malformation syndromes. We report unusual focal bilateral retinal defects in sisters with TOF.

[Telemedicine correlation in retinopathy of prematurity between experts and non-expert observers].

Objective: To study the correlation between expert and non-expert observers in the reporting images for the diagnosis of retinopathy of prematurity (ROP) in a telemedicine setting.

Methods: A cross-sectional, multicenter study, consisting of 25 sets of images of patients screened for ROP. They were evaluated by two experts in ROP and 1 non-expert and classified according to telemedicine classification, zone, stage, plus disease and Ells referral criteria.

Combined Phacoemulsification and Ahmed Glaucoma Drainage Implant Surgery for Patients With Refractory Glaucoma and Cataract.

Purpose: To examine the indications, safety, efficacy, and complications of combined phacoemulsification and Ahmed glaucoma drainage implant surgery.

Methods: A retrospective case review of 35 eyes (31 patients) subjected to combined phacoemulsification and Ahmed glaucoma drainage implant surgery. Demographic characteristics of the study population, indications for combined surgery, and operative and postoperative complications were recorded.

Dynamics of tear fluid desiccation on a glass surface: a contribution to tear quality assessment.

Background: Fern-like crystalloids form when a microvolume of tear is allowed to dry out at ambient conditions on a glass surface. Presence of crystalloids in tear "microdesiccates" is used to evaluate patients with Dry-Eye disease. This study aims to examine morphologically the desiccation process of normal tear fluid and to identify changes associated with accelerated tear evaporation.

Should patients with ocular genetic disorders have genetic testing?

Purpose Of Review: To discuss the risks, benefits and value of genetic testing for ocular genetic disease.

Recent Findings: Testing for ocular genetics diseases is becoming more available and successful gene therapy is being reported. Clinicians must prepare for this trend by considering diagnostic genetic testing for their patients.