Purpose: To assess the utility of the first or second examinations for retinopathy of prematurity (ROP) in a medium-risk cohort of infants and to propose an optimization to the current ROP screening guidelines.
Design: Retrospective consecutive study.
Subjects: Infants screened for ROP between January 2017 and August 2023 at three different tertiary-level care neonatal intensive care units.
RNA binding proteins drive proliferation and tumorigenesis by regulating the translation and stability of specific subsets of messenger RNAs (mRNAs). We have investigated the role of eukaryotic initiation factor 4B (eIF4B) in this process and identify 10-fold more RNA binding sites for eIF4B in tumour cells from patients with diffuse large B-cell lymphoma compared to control B cells and, using individual-nucleotide resolution UV cross-linking and immunoprecipitation, find that eIF4B binds the entire length of mRNA transcripts. eIF4B stimulates the helicase activity of eIF4A, thereby promoting the unwinding of RNA structure within the 5' untranslated regions of mRNAs.
View Article and Find Full Text PDFStargardt disease (STGD1), associated with biallelic variants in the gene, is the most common heritable macular dystrophy and is currently untreatable. To identify potential treatment targets, we characterized surviving STGD1 photoreceptors. We used clinical data to identify macular regions with surviving STGD1 photoreceptors.
View Article and Find Full Text PDFPurpose: We aim to validate the previously published TWO-ROP algorithm on an external data set.
Design: Retrospective consecutive study.
Subjects: Infants screened for retinopathy of prematurity (ROP) between January 2013 and August 2023 at a tertiary referral multi-site.
Background And Objectives: Despite increasing numbers of faculty identifying as underrepresented in medicine (URiM) over the last few decades, URiM representation in academic medicine leadership has changed little. The Society of Teachers of Family Medicine funded the Leadership Through Scholarship Fellowship (LTSF) to target this population and provide a framework for scholarly success. Based on responses to open-ended questions from a leadership survey, we characterize how early-career URiM family medicine faculty view leadership and assess attitudes and perceptions of leadership development.
View Article and Find Full Text PDFInherited retinal diseases encompass a genetically diverse group of conditions caused by variants in genes critical to retinal function, including handful of ribosome-associated genes. This study focuses on the HBS1L gene, which encodes for the HBS1-like translational GTPase that is crucial for ribosomal rescue. We have reported a female child carrying biallelic HBS1L variants, manifesting with poor growth and neurodevelopmental delay.
View Article and Find Full Text PDFPurpose: Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy. Within corneal development, primary cilia serve a critical role. We sought to investigate the association of BBS with corneal astigmatism among a cohort of patients with BBS.
View Article and Find Full Text PDFPARTNER is a prospective, phase II-III, randomized controlled clinical trial that recruited patients with triple-negative breast cancer, who were germline BRCA1 and BRCA2 wild type. Here we report the results of the trial. Patients (n = 559) were randomized on a 1:1 basis to receive neoadjuvant carboplatin-paclitaxel with or without 150 mg olaparib twice daily, on days 3 to 14, of each of four cycles (gap schedule olaparib, research arm) followed by three cycles of anthracycline-based chemotherapy before surgery.
View Article and Find Full Text PDFPurpose: To evaluate ocular and retinal features of CRB1-associated early onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA) for age-related changes.
Design: Retrospective cohort study.
Methods: Sixteen pediatric patients with biallelic CRB1 EOSRD/LCA who had been followed for up to 18 years were reviewed.
Thyrotoxicosis can exhibit overlapping symptoms of psychosis in the general population. Each of these pathologies has well-established workups and management. Rare presentations of thyroiditis and psychosis in the postpartum state have been seen in case studies mostly, but data on the prevalence of postpartum psychosis in association with postpartum thyroiditis are not available.
View Article and Find Full Text PDFEsophageal carcinoma (EC) and nutritional status are strongly linked due to swallowing disruptions and treatment-related toxicities. Therefore, malnutrition and weight loss (WL) occur in 85% and 79% of EC patients, respectively. WL is frequently associated with worse EC patient outcomes, however, WL during radiation therapy (RT) and EC patient outcomes have not been well established.
View Article and Find Full Text PDFBuschke-Lowenstein tumors (BLTs) are benign dermatologic manifestations of human papillomavirus (HPV). They originate from longstanding condylomata in individuals with compromised immune systems. In this case report, we present a 68-year-old immunocompetent female with HPV condylomata that had transitioned to a large, fungated BLT in her right groin.
View Article and Find Full Text PDFBackground: As individuals age, they may need new strategies to manage exacerbations of chronic disease to maintain their dignity and independence. Many end up in a revolving cycle of emergency department visits, hospitalizations, and post-acute care. Support to stay at home, which is often their preference, becomes a challenge and varies with insurance coverage, location, and financial status.
View Article and Find Full Text PDFInherited retinal diseases (IRDs) encompass a genetically diverse group of conditions in which mutations in genes critical to retinal function lead to progressive loss of photoreceptor cells and subsequent visual impairment. A handful of ribosome-associated genes have been implicated in retinal disorders alongside neurological phenotypes. This study focuses on the gene, encoding HBS1 Like Translational GTPase which has been recognized as a critical ribosomal rescue factor.
View Article and Find Full Text PDFStem cell therapy for retinal degenerative diseases has been extensively tested in preclinical and clinical studies. However, preclinical studies performed in animal models at the early stage of disease do not optimally translate to patients that present to the clinic at a later stage of disease. As the retina degenerates, inflammation and oxidative stress increase and trophic factor support declines.
View Article and Find Full Text PDFPurpose: To test the hypothesis that a simple model having properties consistent with activation and deactivation in the rod approximates the whole time course of the photoresponse.
Methods: Routinely, an exponential of the form f = α·(1 - exp(-(τ·(t - teff)s-1))), with amplitude α, rate constant τ (often scaled by intensity), irreducible delay teff, and time exponent s-1, is fit to the early period of the flash electroretinogram. Notably, s (an integer) represents the three integrating stages in the rod amplification cascade (rhodopsin isomerization, transducin activation, and cGMP hydrolysis).
ACS Appl Mater Interfaces
September 2023
In recent years, there has been an increase in the incidence of insect-borne diseases. Topically applied insect repellents are used to prevent these infectious diseases, but concerns of skin permeability and rapid evaporation rates have made way for alternative preventative methods. Encapsulation of insect repellents in polymeric materials allows for nonskin contact methods of repellent delivery with extended-release profiles without the need for reapplication.
View Article and Find Full Text PDFInvest Ophthalmol Vis Sci
August 2023
Purpose: The purpose of this study was to test the hypothesis that retinopathy of prematurity (ROP) prolongs development of rod-mediated thresholds for detection of stimuli at 10 degrees but not 30 degrees eccentricity. In addition, to evaluate the thresholds at each site for an association with visual acuity (VA) and spherical equivalent (SE).
Methods: We estimated rod-mediated dark-adapted thresholds (DATs) for the detection of 2 degree diameter, 50 ms, blue (λ < 510 nm) flashes at 10 degrees and 30 degrees eccentric in former preterm subjects (n = 111), stratified by ROP severity: None (n = 32), Mild (n = 66), and Severe (n = 13).
Fluctuations in ultra high purity (UHP) helium supply has the potential to negatively impact critical research efforts. Disruptions have increased significantly with suppliers prioritizing delivery to medical facilities. Due to the greater demand for helium, supply issues are likely to continue through the coming years.
View Article and Find Full Text PDFX-linked juvenile retinoschisis (XLRS), a hereditary retinal disorder primarily affecting males, is characterized by the formation of cystic spaces between the outer plexiform layer and outer nuclear layer of the retina. Mutations in the RS1 gene, which encodes the extracellular binding protein retinoschisin, are responsible for XLRS pathogenesis. While the role of retinoschisin in maintaining retinal integrity is well established, there is growing evidence suggesting compromised photoreceptor function in XLRS.
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