-Associated Ocular Albinism in a Hispanic Family and Review of the Literature.

While ocular albinism (OA) is usually associated with reduced vision, nystagmus, and foveal hypoplasia, there is phenotypic variability in iris and fundus hypopigmentation. Hemizygous pathogenic/likely pathogenic (P/LP) variants in at X: 151.56-151.

Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.

Introduction: Due to the recent advent of gene-targeted retinal therapies, the clinical value of high-yield genetic testing for inherited retinal dystrophies (IRDs) has increased considerably. However, diagnostic yield is limited by the reported patient populations in allele frequency databases. This study aimed to determine the effect of race and ethnicity on diagnostic yield in IRDs.

Ophthalmic Manifestations in a Diverse Pediatric Population with Type I and Type II Stickler Syndrome.

Objective: To characterize and compare our cohorts of pediatric patients with types I and II Stickler syndrome, with a focus on ophthalmic features.

Design: Retrospective cohort study.

Subjects: Twenty-six patients (22 families) with clinical and genetic diagnoses of type I or II Stickler syndrome.

Refractive changes in children in the Chicago area during the COVID-19 pandemic: a retrospective observational study.

Background: Remote learning during the COVID-19 pandemic caused behavioural changes such as increased screen time and decreased outdoor time. This study aimed to investigate myopia progression in children during the COVID-19 pandemic.

Methods: This was a retrospective observational study performed among 2064 patients ages 2-17 with cycloplegic refractions in the months of January 2019-March 2021 at a tertiary children's hospital.

Evaluation of parameters for early detection of pediatric keratoconus.

Background: Keratoconus in children is often more severe and rapidly progressive compared to adults. While Scheimpflug imaging (Pentacam) improves screening, there are no established pediatric guidelines. Due to challenges in diagnosis, we aimed to correlate clinical factors with abnormal imaging results to aid in the development of screening protocols.

A Case of Non-Syndromic Congenital Cataracts Caused by a Novel Variant in the C-Terminal DNA-Binding Domain-Case Report and Literature Review.

The gene encodes a transcription factor in which pathogenic variants have been associated with both isolated and syndromic congenital cataracts. We aim to review the variants in the C-terminal DNA-binding domain associated with non-syndromic congenital cataracts and describe a patient with a novel, disease-causing de novo missense variant. Published reports of C-terminal variants and their associated congenital cataracts and ophthalmic findings were reviewed.

Leukemic Optic Neuropathy in Pediatric Patients: A Case Series.

Purpose: To characterize the presentation, clinical course, and treatment of a series of children with leukemic optic neuropathy.

Methods: Patients with leukemia who were treated at a tertiary children's hospital for optic nerve infiltration were included (n = 11). Demographic information, cancer history, ophthalmologic examination findings, treatment, and outcomes were retrospectively collected.

A case of blepharophimosis: Freeman Sheldon syndrome.

Purpose: Important implications exist for ophthalmologists when considering possible early surgical intervention for potential amblyogenic anatomical abnormalities. The authors discuss the risks and benefits from an ophthalmological perspective of different interventions and review the genetic testing that confirmed the diagnosis.

Observations: The authors describe the findings and management of an infant with Freeman Sheldon syndrome presenting with blepharophimosis of both eyelids resulting in inability to open both eyes during the first several days of life.

Concussion Alters Dynamic Pupillary Light Responses in Children.

Aim: To investigate the impact of concussion on pupillary function in children by examining pupillometric parameters and assessing for differences in children reporting photosensitivity.

Methods: Retrospective chart review was performed of pediatric patients referred for visual symptoms after concussion from 2017 to 2018 seen in a single academic outpatient clinic. Pupillometry data of 92 patients were included.

Establishing a normative database for quantitative pupillometry in the pediatric population.

Background: Pupillary evaluation is a crucial element of physical exams. Noting size, reactivity, and consensual response is critical in assessing for optic nerve dysfunction. We aim to establish normative data for scotopic pupillary size and function in the pediatric population in a clinical setting.

Microbiology of Pediatric Orbital Cellulitis and Trends in Methicillin-Resistant Cases.

We reviewed medical records of children with orbital cellulitis with positive cultures at a tertiary institution from 2005 to 2018 to identify microbiology trends and features associated with methicillin-resistant (MRSA) cases. Cultures obtained from the orbits (n = 33), sinuses (n = 31), and dural cavities (n = 4) had yields of 66.7%, 61.

Tropicamide has limited clinical effect on cycloplegia and mydriasis when combined with cyclopentolate and phenylephrine.

Purpose: To examine the cycloplegic and mydriatic effect of tropicamide omission from a common pediatric eye drop combination.

Methods: Consecutive children examined at the Ann & Robert H. Lurie Children's Hospital of Chicago from June 8, 2017 to September 6, 2017 were enrolled prospectively.

Pupillary manifestations of Marfan syndrome: from the Marfan eye consortium of Chicago.

Background: Marfan syndrome (MFS) is a genetic disorder that affects multiple organ systems, including the eye. The most common ocular manifestations include ectopia lentis and retinal detachment. The current literature qualitatively cites that MFS patients have miotic or "poorly dilating" pupils.

Evaluation of New Diagnostic Biomarkers in Pediatric Sepsis: Matrix Metalloproteinase-9, Tissue Inhibitor of Metalloproteinase-1, Mid-Regional Pro-Atrial Natriuretic Peptide, and Adipocyte Fatty-Acid Binding Protein.

Elevated plasma concentrations of matrix metalloproteinase-9 (MMP-9), tissue inhibitor of metalloproteinase-1 (TIMP-1), mid-regional pro-atrial natriuretic peptide (mrProANP), and adipocyte fatty-acid-binding proteins (A-FaBPs) have been investigated as biomarkers for sepsis or detection of acute neurological injuries in adults, but not children. We carried out a single-center, prospective observational study to determine if these measures could serve as biomarkers to identify children with sepsis. A secondary aim was to determine if these biomarkers could identify children with neurologic complications of sepsis.

Thrombin decreases expression of the glutamate transporter GLAST and inhibits glutamate uptake in primary cortical astrocytes via the Rho kinase pathway.

Astrocyte glutamate transporters GLAST and GLT1 play a key role in regulating neuronal excitation and their levels are altered in patients with epilepsy, and after traumatic brain injury. The mechanisms which regulate their expression are not well understood. We tested the hypothesis that exposure of astrocytes to high levels of thrombin, as may occur after a compromise of the blood-brain barrier, would reduce astrocyte glutamate transporter levels.

Albumin induces upregulation of matrix metalloproteinase-9 in astrocytes via MAPK and reactive oxygen species-dependent pathways.

Background: Astrocytes are an integral component of the blood-brain barrier (BBB) which may be compromised by ischemic or traumatic brain injury. In response to trauma, astrocytes increase expression of the endopeptidase matrix metalloproteinase (MMP)-9. Compromise of the BBB leads to the infiltration of fluid and blood-derived proteins including albumin into the brain parenchyma.

Evaluation of asymmetric dimethylarginine, arginine, and carnitine metabolism in pediatric sepsis.

Objective: Increased plasma concentrations of the endogenous nitric oxide synthase inhibitor, asymmetric dimethylarginine, decreased arginine bioavailability, and mitochondrial dysfunction have been reported in adult sepsis. We studied whether asymmetric dimethylarginine, arginine, and carnitine metabolism (a measure of mitochondrial dysfunction) are altered in pediatric sepsis and whether these are clinically useful biomarkers.

Design: : Prospective, observational study.

Mild stretch-induced injury increases susceptibility to interleukin-1β-induced release of matrix metalloproteinase-9 from astrocytes.

Traumatic brain injury (TBI) results in the activation of glia and the release of proinflammatory cytokines, including interleukin (IL)-1β. The response of astrocytes to mild TBI has not been well studied. We used an in vitro model of cell stretch to investigate the effects of mild mechanical insult on astrocyte injury (lactate dehydrogenase and propidium iodide), and on mediators of inflammation including IL-1β, the chemokine CX3CL1, and nitrite.

Albumin causes increased myosin light chain kinase expression in astrocytes via p38 mitogen-activated protein kinase.

Myosin light chain kinase (MLCK) plays an important role in the reorganization of the cytoskeleton, leading to disruption of vascular barrier integrity in multiple organs, including the blood-brain barrier (BBB), after traumatic brain injury (TBI). MLCK has been linked to transforming growth factor (TGF) and rho kinase signaling pathways, but the mechanisms regulating MLCK expression following TBI are not well understood. Albumin leaks into the brain parenchyma following TBI, activates glia, and has been linked to TGF-β receptor signaling.

Arylsulfanyl pyrazolones block mutant SOD1-G93A aggregation. Potential application for the treatment of amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is an orphan neurodegenerative disease currently without a cure. Mutations in copper/zinc superoxide dismutase 1 (SOD1) have been implicated in the pathophysiology of this disease. Using a high-throughput screening assay expressing mutant G93A SOD1, two bioactive chemical hit compounds (1 and 2), identified as arylsulfanyl pyrazolones, were identified.

Albumin activates the canonical TGF receptor-smad signaling pathway but this is not required for activation of astrocytes.

The use of albumin as a resuscitation fluid is considered safe for most critically ill patients. However, clinical data suggest albumin may increase mortality in neurotrauma, but improve outcome after stroke. Albumin has been shown to activate glia, and to play a role in the mechanisms of epileptogenesis via the TGFβ-receptor (TGFβR).

Albumin activates astrocytes and microglia through mitogen-activated protein kinase pathways.

Following acute brain injury, albumin may gain access to the brain parenchyma. Clinical studies indicate a protective role for albumin in stroke but an increase in mortality associated with albumin administration following traumatic brain injury. We investigated the effects of albumin on astrocyte and microglial activation, and the role of mitogen-activated protein kinases (MAPK) in these responses.