A CASE REPORT OF TEMPORAL MACULAR THINNING ASSOCIATED WITH ALPORT SYNDROME.

Purpose: The objective of this study was to report a case of severe temporal macular thinning in a patient with Alport syndrome. Bilateral temporal thinning is rarely associated with any other systemic conditions, so it is important that ophthalmologists be aware of the significance of this finding and refer for further internal medicine evaluation appropriately.

Methods: Clinical examination and multimodal imaging are provided from a clinic visit one month after inpatient treatment for a hypertensive crisis associated with renal failure.

Head-mounted surgical robots are an enabling technology for subretinal injections.

Therapeutic protocols involving subretinal injection, which hold the promise of saving or restoring sight, are challenging for surgeons because they are at the limits of human motor and perceptual abilities. Excessive or insufficient indentation of the injection cannula into the retina or motion of the cannula with respect to the retina can result in retinal trauma or incorrect placement of the therapeutic product. Robotic assistance can potentially enable the surgeon to more precisely position the injection cannula and maintain its position for a prolonged period of time.

Physical development of infants born to patients with COVID-19 during pregnancy: 2 years of age.

Background: SARS-CoV-2 infection during pregnancy and pandemic circumstances could negatively impact infant development. This study aimed to investigate the physical development, common pediatric illness incidence, and healthcare utilization over the first 2 years of life of infants born to COVID+ and COVID- patients. Comparisons were also made with infants born pre-pandemic.

Imaging macular carotenoids and their related proteins in the human retina with confocal resonance Raman and fluorescence microscopy.

Lutein and zeaxanthin are highly concentrated at the central region of the human retina, forming a distinct yellow spot known as the macula lutea. The delivery and retention of the macular pigment carotenoids in the macula lutea involves many proteins, but their exact roles remain incompletely understood. In our study, we examined the distribution of the twelve known macular carotenoid-related proteins within the human macula and the underlying retinal pigment epithelium (RPE) using both fluorescence and Raman modes on our confocal resonance Raman microscope.

High-throughput ultrastructural analysis of macular telangiectasia type 2.

Introduction: Macular Telangiectasia type 2 (MacTel), is an uncommon form of late-onset, slowly-progressive macular degeneration. Associated with regional Müller glial cell loss in the retina and the amino acid serine synthesized by Müller cells, the disease is functionally confined to a central retinal region - the MacTel zone.

Methods: We have used high-throughput multi-resolution electron microscopy techniques, optimized for disease analysis, to study the retinas from two women, mother and daughter, aged 79 and 48 years respectively, suffering from MacTel.

Ocular Effects of Prenatal Carotenoid Supplementation in the Mother and Her Child: The Lutein and Zeaxanthin in Pregnancy (L-ZIP) Randomized Trial - Report Number 2.

Purpose: Lutein (L) and zeaxanthin (Z) are xanthophyll carotenoids that have been promoted to enhance maternal health and infant visual and neurodevelopment. In this study, we determined the effects of prenatal L and Z supplementation on systemic and ocular carotenoid status in the mother and her newborn infant (NCT03750968). This report focuses on the ocular effects of prenatal carotenoid supplementation.

The Progression of Stargardt Disease as Determined by Spectral-Domain Optical Coherence Tomography over a 24-Month Period (ProgStar Report No. 18).

Introduction: The aim of this study was to evaluate the progression of atrophy as determined by spectral-domain optical coherence tomography (SD-OCT) in patients with molecularly confirmed ABCA4-associated Stargardt disease type 1 (STGD1) over a 24-month period in a multicenter prospective cohort study.

Methods: SD-OCT images from 428 eyes of 236 patients were analyzed. Change of mean thickness (MT) and intact area were estimated after semiautomated segmentation for the following individual layers in the central subfield (CS), inner ring (IR), and outer ring (OR) of the ETDRS grid: retinal pigment epithelium (RPE), outer segments (OSs), inner segments (IS), outer nuclear layer (ONL) inner retina (IR), and total retina.

Report of the ISTH registry on pregnancy and COVID-19-associated coagulopathy (COV-PREG-COAG).

Background: Concerns about COVID-19-associated coagulopathy (CAC) in pregnant individuals were raised in early pandemic.

Methods: An ISTH-sponsored COVID-19 coagulopathy in pregnancy (COV-PREG-COAG) international registry was developed to describe incidence of coagulopathy, VTE, and anticoagulation in this group.

Results: All pregnant patients with COVID-19 from participating centers were entered, providing 430 pregnancies for the first pandemic wave.

Spontaneous uterine rupture complicated by bilateral pulmonary emboli: A case report.

Spontaneous uterine rupture in unscarred uteri complicated by pulmonary emboli is a rare event with major maternal morbidity and mortality. This is a case of a 32-year-old woman, G1P0, at term, with no pertinent past medical/surgical history, who underwent an emergency cesarean delivery for failed induction of labor complicated by uterine rupture. Post-operatively, the patient was tachycardic and hypoxic.

Comparison of the Field Trapping Ability of MgB and Hybrid Disc-Shaped Layouts.

Superconductors have revolutionized magnet technology, surpassing the limitations of traditional coils and permanent magnets. This work experimentally investigates the field-trapping ability of a MgB disc at various temperatures and proposes new hybrid (MgB-soft iron) configurations using a numerical approach based on the vector potential (A→) formulation. The experimental characterization consists in measurements of trapped magnetic flux density carried out using cryogenic Hall probes located at different radial positions over the MgB sample, after a field cooling (FC) process and the subsequent removal of the applied field.

Elovl4b knockout zebrafish as a model for ocular very-long-chain PUFA deficiency.

Very-long-chain PUFAs (VLC-PUFAs) are a group of lipids with chain lengths >24 carbons, and the ELOVL4 (elongation of very-long-chain FA-4) enzyme is responsible for vertebrate VLC-PUFA biosynthesis. Studies on the role of VLC-PUFAs in vision have been hindered because of the need for adequate animal models to capture the global loss of VLC-PUFAs. Since homozygous Elovl4 ablation is lethal in neonatal mice because of catastrophic drying from the loss of their protective skin barrier, we established a zebrafish (Danio rerio) model of Elovl4 ablation.

It Takes a Village: An Interdisciplinary Approach to Preparing Internal Medicine Residents to Care for Patients at the Intersection of Women's Health, Gender-Affirming Care, and Health Disparities.

To create an interdisciplinary curriculum to teach key topics at the intersection of women's health, gender-affirming care, and health disparities to internal medicine (IM) residents. A core team of faculty from IM, Obstetrics and Gynecology, and Surgery partnered with faculty and fellows from other disciplines and with community experts to design and deliver the curriculum. The resulting curriculum consisted of themed half-day modules, each consisting of three to four inter-related topics, updated and repeated on an ∼3-year cycle.

Grand Multiparity and Obstetric Outcomes in a Contemporary Cohort: The Role of Increasing Parity.

Objective: Evidence is inconsistent regarding grand multiparity and its association with adverse obstetric outcomes. Few large American cohorts of grand multiparas have been studied. We assessed if increasing parity among grand multiparas is associated with increased odds of adverse perinatal outcomes.

Dietary fish oil enriched in very-long-chain polyunsaturated fatty acid reduces cardiometabolic risk factors and improves retinal function.

Very-long-chain polyunsaturated fatty acids (VLCPUFAs; C24-38) constitute a unique class of PUFA that have important biological roles, but the lack of a suitable dietary source has limited research in this field. We produced an n-3 C24-28-rich VLCPUFA-oil concentrated from fish oil to study its bioavailability and physiological functions in C57BL/6J mice. The serum and retinal C24:5 levels increased significantly compared to control after a single-dose gavage, and VLCPUFAs were incorporated into the liver, brain, and eyes after 8-week supplementation.

Eye-mounting goggles to bridge the gap between benchtop experiments and in vivo robotic eye surgery.

A variety of robot-assisted surgical systems have been proposed to improve the precision of eye surgery. Evaluation of these systems has typically relied on benchtop experiments with artificial or enucleated eyes. However, this does not properly account for the types of head motion that are common among patients undergoing eye surgery, which a clinical robotic system will encounter.

Piloting a prenatal care smartphone application and care navigation intervention at a federally qualified health center.

Background: Given that smartphones are widely used among reproductive-age people of all socioeconomic backgrounds, a smartphone application may be a useful supplement to routine prenatal care.

Objective: This study aimed to describe the implementation of a smartphone app that offers patient education, depression screening, social determinants of health screening, and care coordination as an adjunct to routine prenatal care at a federally qualified health center. We further sought to characterize app engagement and the association of app use with pregnancy outcomes.

Understanding the Roles of Very-Long-Chain Polyunsaturated Fatty Acids (VLC-PUFAs) in Eye Health.

Lipids serve many roles in the neural system, from synaptic stabilization and signaling to DNA regulation and neuroprotection. They also regulate inflammatory responses, maintain cellular membrane structure, and regulate the homeostatic balance of ions and signaling molecules. An imbalance of lipid subgroups is implicated in the progression of many retinal diseases, such as age-related macular degeneration (AMD), retinitis pigmentosa, and diabetic retinopathy, and diet can play a key role in influencing these diseases' onset, progression, and severity.

Role of VLC-PUFAs in Retinal and Macular Degeneration.

Very-long-chain polyunsaturated fatty acids (VLC-PUFAs) are a special class of fatty acids that are present in the retina and a few other human tissues. They cannot be synthesized de novo and are rarely present in dietary sources. Structurally, these lipids are composed of a proximal end with a typical saturated fatty acid character and a distal end more characteristic of common PUFAs.

Macular Pigment Carotenoids and Bisretinoid A2E.

Lutein (L), zeaxanthin (Z), and meso-zeaxanthin (MZ) are the three macular pigments (MP) carotenoids that uniquely accumulate in the macula lutea region of the human retina. L and Z are obtained by humans through dietary intake. The third MP, MZ, is rarely present in diet, and its abundance in the human fovea is due to the metabolic conversion of dietary L by the retinal pigment epithelium's RPE65 enzyme.

The value of pre-symptomatic genetic risk assessment for age-related macular degeneration: the Moran AMD Genetic Testing Assessment (MAGENTA) study-a study protocol for a randomized controlled trial.

Background: Age-related macular degeneration (AMD) is an irreversible blinding eye condition with complex genetic and environmental etiologies. Genetic testing for AMD for previously identified multiple-risk single nucleotide polymorphisms can help determine an individual's future susceptibility. However, such testing has been discouraged until evidence shows that providing such information to symptomatic or pre-symptomatic individuals will alter their disease course.

FLUORESCENCE LIFETIME IMAGING OPHTHALMOSCOPY IN PATIENTS WITH MACULAR TELANGIECTASIA TYPE 2 WITH AND WITHOUT DIABETES.

Purpose: Macular telangiectasia type 2 (MacTel) is a vision-altering retinal disease with a high prevalence of diabetes. Differences between patients with MacTel with and without diabetes were investigated using fluorescence lifetime imaging ophthalmoscopy (FLIO).

Methods: Eighty-six patients with MacTel (59 ± 12 years) were included.

Systemic Effects of Prenatal Carotenoid Supplementation in the Mother and her Child: The Lutein and Zeaxanthin in Pregnancy (L-ZIP) Randomized Trial -Report Number 1.

Background: Adding carotenoids, particularly lutein (L) and zeaxanthin (Z), to prenatal micronutrient formulations has been promoted to enhance infant visual and neural development and to maintain maternal health. Although these claims are biologically plausible, they are not yet supported by a compelling prospective trial.

Objective: We investigated the effect of prenatal carotenoid supplementation on biomarkers of maternal and infant systemic carotenoid status.

iPSC-derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function.

Patient-derived induced pluripotent stem cells (iPSCs) provide a powerful tool for identifying cellular and molecular mechanisms of disease. Macular telangiectasia type 2 (MacTel) is a rare, late-onset degenerative retinal disease with an extremely heterogeneous genetic architecture, lending itself to the use of iPSCs. Whole-exome sequencing screens and pedigree analyses have identified rare causative mutations that account for less than 5% of cases.