Alex V. Levin
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View article: Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel
Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel Open
The expanded FEVR gene panel detected DCVs in nearly one-half of our cohort. Including the criteria used in classification will improve transparency of variant calls as more data become available. Four FEVR genes account for most cases, an…
View article: IMMU-13. TRANS-SPECIES STUDY OF IDH-MUTANT REPLICATION-REPAIR DEFICIENT HIGH-GRADE GLIOMAS (RRD-HGG) AND RESPONSE TO COMBINED TARGETED AND IMMUNOTHERAPY: AN IRRDC STUDY
IMMU-13. TRANS-SPECIES STUDY OF IDH-MUTANT REPLICATION-REPAIR DEFICIENT HIGH-GRADE GLIOMAS (RRD-HGG) AND RESPONSE TO COMBINED TARGETED AND IMMUNOTHERAPY: AN IRRDC STUDY Open
BACKGROUND AND AIMS IDH-mutant gliomas comprise <10% of HGG in children. RRD-HGG comprise 5-10% of childhood HGG, demonstrate high mutation burden (TMB) and respond to immune-checkpoint inhibition (ICI). The impact of RRD within childho…
View article: Comprehending Atopic Risk Elements (CARE): An observational study to determine lifestyle, biophysical and environmental risk factors in the development of early-onset pediatric atopic dermatitis
Comprehending Atopic Risk Elements (CARE): An observational study to determine lifestyle, biophysical and environmental risk factors in the development of early-onset pediatric atopic dermatitis Open
Background Atopic dermatitis and food allergies affect a growing swath of the population and there is consensus that their development is determined by a confluence of inherent and environmental factors. Of the numerous influences identifi…
View article: Deep Learning Approach for Differentiating Etiologies of Pediatric Retinal Hemorrhages: A Multicenter Study
Deep Learning Approach for Differentiating Etiologies of Pediatric Retinal Hemorrhages: A Multicenter Study Open
Retinal hemorrhages in pediatric patients can be a diagnostic challenge for ophthalmologists. These hemorrhages can occur due to various underlying etiologies, including abusive head trauma, accidental trauma, and medical conditions. Accur…
View article: Genetics of the anterior segment dysgenesis
Genetics of the anterior segment dysgenesis Open
The anterior segment dysgeneses are a broad group of heterogeneous disorders characterized by developmental abnormalities of the anterior segment of the eye, including primary congenital aphakia, Peters sequence, aniridia, and Axenfeld–Rie…
View article: Changes in nascent chromatin structure regulate activation of the pro-fibrotic transcriptome and myofibroblast emergence in organ fibrosis
Changes in nascent chromatin structure regulate activation of the pro-fibrotic transcriptome and myofibroblast emergence in organ fibrosis Open
Cell reprogramming to a myofibroblast responsible for the pathological accumulation of extracellular matrix is fundamental to the onset of fibrosis. Here, we explored how condensed chromatin structure marked by H3K72me3 becomes modified to…
View article: Novel <scp><i>CRB1</i></scp> pathogenic variant in <scp>Chuuk</scp> families with <scp>Leber</scp> congenital amaurosis
Novel <span><i>CRB1</i></span> pathogenic variant in <span>Chuuk</span> families with <span>Leber</span> congenital amaurosis Open
The purpose of this article is to determine the cause of Leber congenital amaurosis (LCA) in Chuuk state, Federated States of Micronesia (FSM). In this prospective observational case series, five patients with early‐onset vision loss were …
View article: Protein modeling and in silico analysis to assess pathogenicity of <i>ABCA4</i> variants in patients with inherited retinal disease.
Protein modeling and in silico analysis to assess pathogenicity of <i>ABCA4</i> variants in patients with inherited retinal disease. Open
In this report, we describe a systematic approach to predicting the pathogenicity of ABCA4 variants by means of three-dimensional (3D) protein modeling and in silico structure analysis. Our results demonstrate concordance between disease s…
View article: Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in <i>FZD4</i>
Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in <i>FZD4</i> Open
Importance Familial exudative vitreoretinopathy (FEVR) is a nonsyndromic autosomal dominant retinal disorder commonly caused by variants in the FZD4 gene. This study investigates the potential role beyond ocular abnormalities for FZD4 gene…
View article: Axenfeld-Rieger syndrome: more than meets the eye
Axenfeld-Rieger syndrome: more than meets the eye Open
Background Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with distinct phenotypes, but our understanding i…
View article: Comprehensive phenotypic and functional analysis of dominant and recessive<i>FOXE3</i>alleles in ocular developmental disorders
Comprehensive phenotypic and functional analysis of dominant and recessive<i>FOXE3</i>alleles in ocular developmental disorders Open
The forkhead transcription factor FOXE3 is critical for vertebrate eye development. Recessive and dominant variants cause human ocular disease but the full range of phenotypes and mechanisms of action for the two classes of variants are un…
View article: A novel de novo intronic variant in <scp><i>ITPR1</i></scp> causes Gillespie syndrome
A novel de novo intronic variant in <span><i>ITPR1</i></span> causes Gillespie syndrome Open
Gillespie syndrome (GLSP) is characterized by bilateral symmetric partial aplasia of the iris presenting as a fixed and large pupil, cerebellar hypoplasia with ataxia, congenital hypotonia, and varying levels of intellectual disability. GL…
View article: <i>CNGB1</i> ‐related rod‐cone dystrophy: A mutation review and update
<i>CNGB1</i> ‐related rod‐cone dystrophy: A mutation review and update Open
Cyclic nucleotide-gated channel β1 (CNGB1) encodes the 240-kDa β subunit of the rod photoreceptor cyclic nucleotide-gated ion channel. Disease-causing sequence variants in CNGB1 lead to autosomal recessive rod-cone dystrophy/retinitis pigm…
View article: Resident immune cells of the avascular lens: Mediators of the injury and fibrotic response of the lens
Resident immune cells of the avascular lens: Mediators of the injury and fibrotic response of the lens Open
Tissues typically harbor subpopulations of resident immune cells that function as rapid responders to injury and whose activation leads to induction of an adaptive immune response, playing important roles in repair and protection. Since th…
View article: Postponed treatment outcomes in patients with limited fibrous cavernous pulmonary tuberculosis with use of valve bronchial block
Postponed treatment outcomes in patients with limited fibrous cavernous pulmonary tuberculosis with use of valve bronchial block Open
The objective of the study: to evaluate postponed outcomes of comprehensive treatment with use of valve bronchial block in patients with limited fibrous cavernous pulmonary tuberculosis. Subjects and methods. Treatment outcomes of 97 patie…
View article: Chromosomal Microarray in Isolated Congenital and Developmental Cataract
Chromosomal Microarray in Isolated Congenital and Developmental Cataract Open
Introduction: The etiologies of congenital and developmental cataracts are diverse. Most are not syndromic and have no identifiable cause, thus creating a diagnostic dilemma. We investigated the utility of chromosomal microarray in identif…
View article: Endobronchial valve in complex treatment of patients with drug resistant fibrous cavernous pulmonary tuberculosis
Endobronchial valve in complex treatment of patients with drug resistant fibrous cavernous pulmonary tuberculosis Open
The objective of the study : to assess the efficacy of complex treatment with endobronchial valve implantation in the patients suffering from drug resistant fibrous cavernous pulmonary tuberculosis. Subjects and methods . Treatment outcome…
View article: Association of Preoperative Disclosure of Resident Roles With Informed Consent for Cataract Surgery in a Teaching Program
Association of Preoperative Disclosure of Resident Roles With Informed Consent for Cataract Surgery in a Teaching Program Open
Our results suggest 45.7% to 66.4% of community private practice patients would consent to resident surgery. Consent rates were not associated with demographic factors. Because residents are less often offered the opportunity to do surgery…
View article: Retinal Findings in Young Children With Increased Intracranial Pressure From Nontraumatic Causes
Retinal Findings in Young Children With Increased Intracranial Pressure From Nontraumatic Causes Open
OBJECTIVES: Increased intracranial pressure (ICP) has been suggested in legal settings as an alternative cause of retinal hemorrhages (RHs) in young children who may have sustained abusive head trauma. We assessed the prevalence and charac…