Ann Shue, MD

Abstract

The United States Virgin Islands (USVI) Department of Health (DOH) conducted a second Zika health brigade (ZHB) in 2021 to provide recommended Zika-related pediatric health screenings, including vision, hearing, neurologic, and developmental screenings, for children in the USVI. This was replicated after the success of the first ZHB in 2018, which provided recommended Zika-related pediatric health screenings to 88 infants and children exposed to Zika virus (ZIKV) during pregnancy.Ten specialty pediatric care providers were recruited and traveled to the USVI to conduct the screenings. USVI DOH scheduled appointments for children included in CDC's U.S. Zika Pregnancy and Infant Registry (USZPIR). During the ZHB, participants were examined by pediatric ophthalmologists, pediatric audiologists, and pediatric neurologists. We report the percentage of participants who were referred for additional follow-up care or given follow-up recommendations in the 2021 ZHB and compare these referrals and recommendations to those given in the 2018 ZHB.Thirty-three children born to mothers with laboratory evidence of ZIKV infection during pregnancy completed screenings at the 2021 ZHB, of which 15 (45%) children were referred for additional follow-up care. Ophthalmological screenings resulted in the highest number of new referrals for a specialty provider among ZHB participants, with 6 (18%) children receiving referrals for that specialty. Speech therapy was the most common therapy referral, with 10 (30%) children referred, of which 9 (90%) were among those who attended the 2018 ZHB.Thirty-three children in a jurisdiction with reduced access to healthcare specialists received recommended Zika-related pediatric health screenings at the ZHB. New and continuing medical and developmental concerns were identified and appropriate referrals for follow-up care and services were provided. The ZHB model was successful in creating connections to health services not previously received by the participants.

View details for DOI 10.1002/bdr2.2143

View details for PubMedID 36574736

Abstract

To describe the characteristics and prevalence of strabismus and nystagmus in children diagnosed with cataracts using a national insurance claims database.Population-based retrospective cohort study METHODS: Patients <13 years diagnosed with cataracts (traumatic cataracts excluded) and enrolled continuously in their healthcare program for 5 years after their first cataract diagnosis were identified in a retrospective review of 66 million charts in Optum's de-identified Clinformatics Data Mart Database between 2003 and 2015. Patients were categorized based on age of their first diagnosed cataract, and if cataract surgery was performed. Clinical and demographic factors associated with the occurrence of strabismus and nystagmus were evaluated.Of 1,636 children diagnosed with cataract, 434 (26.5%) and 109 (6.7%) were diagnosed with strabismus and nystagmus, respectively. Both strabismus and nystagmus were more common in those who underwent cataract surgery (P <0.001) and in patients diagnosed with cataract 12 months of age (P <0.001). Survival analysis demonstrated that strabismus and nystagmus may be diagnosed 8 years following the initial cataract diagnosis. Cox proportional hazard regression analyses revealed strabismus was associated with cataract surgery, nystagmus, and the diagnosis with cataract 12 months and cataract surgery > 12 months.As strabismus and nystagmus occur more frequently in children diagnosed with cataracts necessitating cataract surgery, regular long-term follow-up is crucial for these children to monitor for the development of strabismus and nystagmus.

View details for DOI 10.1016/j.ajo.2022.11.014

View details for PubMedID 36410473

Abstract

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 is incomplete, complicated by the rarity of the condition.Genetic and phenotypic characterisation of the largest reported ARS cohort through comprehensive genetic and clinical data analyses.128 individuals with causative variants in PITX2 or FOXC1, including 81 new cases, were investigated. Ocular anomalies showed significant overlap but with broader variability and earlier onset of glaucoma for FOXC1-related ARS. Systemic anomalies were seen in all individuals with PITX2-related ARS and the majority of those with FOXC1-related ARS. PITX2-related ARS demonstrated typical umbilical anomalies and dental microdontia/hypodontia/oligodontia, along with a novel high rate of Meckel diverticulum. FOXC1-related ARS exhibited characteristic hearing loss and congenital heart defects as well as previously unrecognised phenotypes of dental enamel hypoplasia and/or crowding, a range of skeletal and joint anomalies, hypotonia/early delay and feeding disorders with structural oesophageal anomalies in some. Brain imaging revealed highly penetrant white matter hyperintensities, colpocephaly/ventriculomegaly and frequent arachnoid cysts. The expanded phenotype of FOXC1-related ARS identified here was found to fully overlap features of De Hauwere syndrome. The results were used to generate gene-specific management plans for the two types of ARS.Since clinical features of ARS vary significantly based on the affected gene, it is critical that families are provided with a gene-specific diagnosis, PITX2-related ARS or FOXC1-related ARS. De Hauwere syndrome is proposed to be a FOXC1opathy.

View details for DOI 10.1136/jmg-2022-108646

View details for PubMedID 35882526

View details for Web of Science ID 000844401303262

View details for Web of Science ID 000844401303264

View details for DOI 10.1016/j.jaapos.2021.10.007

View details for PubMedID 35091084

View details for Web of Science ID 000690761400742

Abstract

Introduction: Ophthalmology education during medical school is often very limited. To provide exposure to areas beyond its standard curriculum, the University of Pittsburgh School of Medicine offers mini-elective courses in various disciplines. We developed such a course to provide instruction in the basics of clinical ophthalmology to interested preclinical medical students.Methods: First- and second-year medical students electively enrolled in our course (mean number of students per year = 12), which included four sessions combining didactics and hands-on learning. Additionally, each student individually spent time with an ophthalmologist in the operating room. Our course was held each year from 2015 to 2019.Results: Participants completed pre- (n = 25) and postsurveys (n = 20), reflecting increased comfort with the ophthalmologic history and physical examination. In 2019, participants also completed pre- and posttests, demonstrating increased knowledge of ophthalmology.Discussion: The Ophthalmology Mini-Elective is a unique educational tool that introduces the principles of ophthalmology to preclinical medical students, addressing an area of medicine that is generally minimally included in the required curriculum.

View details for DOI 10.15766/mep_2374-8265.11024

View details for PubMedID 33274290

View details for DOI 10.1177/1120672120920544

View details for PubMedID 32340490