To characterize recent socioeconomic trends in patients with keratoconus/corneal ectasias undergoing corneal crosslinking (CXL). A deidentified administrative medical claims database comprised commercial and Medicare Advantage health claims from across the United States. Population-based retrospective cohort study. This study identified 552 patients with keratoconus/corneal ectasia who underwent CXL and 2723 matched controls who did not undergo CXL based on Current Procedural Terminology coding from a U.S. national insurance claims database from 2016 to 2020. For each patient, characteristics, including sex, race, age, household net worth, education level, insurance plan type, and geographic region, were extracted. Multivariate logistic regression was conducted to determine the odds of undergoing crosslinking. Age 30 years or older (odds ratio [OR], 0.34, P < .001) was associated with decreased likelihood of undergoing CXL. Sex, race, education, and patient income were not associated with odds of undergoing CXL. Patients with health maintenance organization insurance had lower odds of undergoing CXL (OR, 0.64, P = .047). Geographically, patients on the east coast (OR, 0.37, P < .001) and Lower Midwest (OR, 0.31, P < .001) had statistically lower odds of undergoing crosslinking. This is the first study to identify socioeconomic determinants of CXL, and it highlights that geographic location and insurance type may limit accessibility to patients.

To describe a case of concurrent rhegmatogenous retinal detachment, choroidal detachment, and macular hole (RRD-CD-MH) formation in a patient after uncomplicated cataract extraction and intraocular lens implantation (CEIOL). In addition, we summarize the previously reported cases of RRD-CD-MH in the literature. Interventional case report and literature review. A 71-year-old white man without relevant medical or ocular history underwent an uncomplicated CEIOL. He presented with counting fingers vision and intraocular pressure of 5 mmHg after 3 weeks. On dilated fundus examination, multiple superior tears and total RRD with a serous CD was evident. Intraoperatively, a full-thickness MH was identified. The patient underwent routine RRD and MH repair, with instillation of 1,000 centistoke silicone oil (SiO). The retina successfully re-attached, the CD resolved, and the intraocular pressure normalized; however, the MH did not initially close. The SiO was removed approximately 4 months later and, while the MH remained open, the patient's vision improved to 20/80. Approximately three years after the surgical repair, the MH closed spontaneously, and the vision remained at 20/80. Our patient developed an RRD-CD-MH after uncomplicated CEIOL. The MH displayed delayed closure. The vision improved after surgical repair, and remained stable in the long term.

The prevalence of childhood obesity is increasing worldwide, along with the associated common comorbidities of type 2 diabetes and cardiovascular disease in later life. Motivated by evidence for a strong genetic component, our prior genome-wide association study (GWAS) efforts for childhood obesity revealed 19 independent signals for the trait; however, the mechanism of action of these loci remains to be elucidated. To molecularly characterize these childhood obesity loci we sought to determine the underlying causal variants and the corresponding effector genes within diverse cellular contexts. Integrating childhood obesity GWAS summary statistics with our existing 3D genomic datasets for 57 human cell types, consisting of high-resolution promoter-focused Capture-C/Hi-C, ATAC-seq, and RNA-seq, we applied stratified LD score regression and calculated the proportion of genome-wide SNP heritability attributable to cell type-specific features, revealing pancreatic alpha cell enrichment as the most statistically significant. Subsequent chromatin contact-based fine-mapping was carried out for genome-wide significant childhood obesity loci and their linkage disequilibrium proxies to implicate effector genes, yielded the most abundant number of candidate variants and target genes at the BDNF, ADCY3, TMEM18 and FTO loci in skeletal muscle myotubes and the pancreatic beta-cell line, EndoC-BH1. One novel implicated effector gene, ALKAL2 - an inflammation-responsive gene in nerve nociceptors - was observed at the key TMEM18 locus across multiple immune cell types. Interestingly, this observation was also supported through colocalization analysis using expression quantitative trait loci (eQTL) derived from the Genotype-Tissue Expression (GTEx) dataset, supporting an inflammatory and neurologic component to the pathogenesis of childhood obesity. Our comprehensive appraisal of 3D genomic datasets generated in a myriad of different cell types provides genomic insights into pediatric obesity pathogenesis.

Exudative retinal detachment (ERD) may result from laser photocoagulation for retinopathy of prematurity. Although risk factors have been hypothesized from case reports, comparative studies have not been reported. We sought to evaluate risk factors for ERD following laser, comparing affected and unaffected infants. Retrospective cohort study of infants undergoing retinopathy of prematurity laser at the Children's Hospital of Philadelphia over 6 years. All received near-confluent laser of avascular retina. Demographic, medical, and procedural risk factors for ERD were evaluated in univariate analysis because of the rarity of ERD. Among 149 lasered infants, 6 infants (4%, 95% confidence interval [CI] 1.5%-8.6%) developed ERD. Race was a significant risk factor ( P = 0.01). Among 71 African American or Hispanic infants, 6 (8.5%, 95% CI 3.2%-17.5%) developed ERD. Among 78 non-African American or Hispanic infants, 0 (0%, 95% CI 0%-4.6%) developed ERD. There were no significant differences in the other studied factors. Exudative retinal detachment was uncommon (4%) following retinopathy of prematurity laser. Despite so few cases, darker pigmented race with likely increased pigmented fundi was significantly associated with an increased ERD risk. Further study may reveal whether increased choroidal pigment causes greater laser tissue damage or makes it difficult to discern the ora, resulting in inadvertent lasering of the ciliary body, leading to ERD.

One of the challenges in the development of patient-specific models of cardiac arrhythmias for clinical applications has been accounting for myocardial fiber organization. The fiber varies significantly from heart to heart, but cannot be directly measured in live tissue. The goal of this paper is to evaluate in-silico the accuracy of left atrium activation maps produced by a fiber-independent (isotropic) model with tuned diffusion coefficients, compares to a model incorporating myocardial fibers with the same geometry. For this study we utilize publicly available DT-MRI data from 7 ex-vivo hearts. The comparison is carried out in 51 cases of focal and rotor arrhythmias located in different regions of the atria. On average, the local activation time accuracy is 96% for focal and 93% for rotor arrhythmias. Given its reasonably good performance and the availability of readily accessible data for model tuning in cardiac ablation procedures, the fiber-independent model could be a promising tool for clinical applications.

To describe a case of TUBA1A-associated optic nerve hypoplasia and persistent fetal vasculature. Observational case report. A female, full term infant was found to have a Dandy-Walker malformation with cerebellar and brainstem hypoplasia, ventriculomegaly, and lissencephaly. Her ophthalmic exam was notable for persistent fetal vasculature, optic nerve hypoplasia, vitreous hemorrhage, and peripheral retinal non-perfusion. Subsequent genetic testing revealed a TUBA1A genetic variant. Persistent fetal vasculature, peripheral retinal vascular abnormalities, and optic nerve hypoplasia may be associated with TUBA1A variants. These patients should be carefully evaluated with dilated retinal exam and fluorescein angiography to detect retinal perfusion abnormalities requiring treatment.

ObjectiveMaxillary sinusitis can be a sequela of medication-related osteonecrosis of the jaw (MRONJ). This study aims to characterize the microbiome of maxillary MRONJ with concurrent maxillary sinusitis and radiographic maxillary sinus opacification to determine if there is a relationship between the microbiome of MRONJ and sinus disease. Study DesignThis retrospective case series was conducted using electronic health records from the University of Pennsylvania and affiliated hospitals. The target population was surgically managed maxillary MRONJ patients. The primary predictor variables were tissue culture results. The primary outcomes were maxillary sinusitis or maxillary sinus opacification. Statistical analysis was performed using chi-squared tests at the 95% confidence interval. ResultsThirty-nine subjects were selected: 25 had sinus opacification and 11 had sinusitis. Resident bacteria were present in 90% of subjects, non-resident bacteria in 74%, and opportunistic organisms in 15%. There were significantly more subjects with chronic sinusitis microbes (79%) than without. There were significantly more gram-positive anaerobes, specifically Propionibacterium, as well as the gram-negative facultative anaerobe, Capnocytophaga, in subjects with concurrent sinusitis. ConclusionsMaxillary MRONJ with concurrent maxillary sinusitis may be associated with gram-positive anaerobic species, Propionibacterium, and Capnocytophaga colonization. Maxillary MRONJ patients may benefit from sinus evaluation and concurrent surgical intervention.

Children with trisomy 21 often have anatomic and physiologic features that may complicate tracheal intubation (TI). TI in critically ill children with trisomy 21 is not well described. We hypothesize that in children with trisomy 21, TI is associated with greater odds of adverse airway outcomes (AAOs), including TI-associated events (TIAEs), and peri-intubation hypoxemia (defined as > 20% decrease in pulse oximetry saturation [Sp o2 ]). Retrospective database study using the National Emergency Airway Registry for Children (NEAR4KIDS). Registry data from 16 North American PICUs and cardiac ICUs (CICUs), from January 2014 to December 2020. A cohort of children under 18 years old who underwent TI in the PICU or CICU from in a NEAR4KIDS center. We identified patients with trisomy 21 and selected matched cohorts within the registry. None. We included 8401 TIs in the registry dataset. Children with trisomy 21 accounted for 274 (3.3%) TIs. Among those with trisomy 21, 84% had congenital heart disease and 4% had atlantoaxial instability. Cervical spine protection was used in 6%. The diagnosis of trisomy 21 (vs. without) was associated with lower median weight 7.8 (interquartile range [IQR] 4.5-14.7) kg versus 10.6 (IQR 5.2-25) kg ( p < 0.001), and more higher percentage undergoing TI for oxygenation (46% vs. 32%, p < 0.001) and ventilation failure (41% vs. 35%, p = 0.04). Trisomy 21 patients had more difficult airway features (35% vs. 25%, p = 0.001), including upper airway obstruction (14% vs. 8%, p = 0.001). In addition, a greater percentage of trisomy 21 patients received atropine (34% vs. 26%, p = 0.004); and, lower percentage were intubated with video laryngoscopy (30% vs. 37%, p = 0.023). After 1:10 (trisomy 21:controls) propensity-score matching, we failed to identify an association difference in AAO rates (absolute risk difference -0.6% [95% CI -6.1 to 4.9], p = 0.822). Despite differences in airway risks and TI approaches, we have not identified an association between the diagnosis of trisomy 21 and higher AAOs.

To describe a case of bullous variant of central serous chorioretinopathy (CSR) in Goodpasture's disease (GD) compared to an identical twin without GD, and summarize the literature on ocular manifestations of GD. Interventional/observational case report and literature review. A 46-year-old white female with a history of GD presented with decreased vision. She demonstrated bilateral multifocal pigment epithelial detachments and a large inferior exudative retinal detachment in the left eye consistent with bilateral CSR with bullous variant CSR (bvCSR) in the left eye. Despite treatment, her disease remained refractory, with final VA of 20/200 in the left eye. The patient's identical twin sister did not have GD and demonstrated milder CSR on presentation with a more typical, self-limited disease course. Her final VA was 20/20 bilaterally. GD is associated with severe manifestations of CSR (exudative RD). Additional studies focusing on the association between GD and CSR severity may be of interest.

While artificial intelligence (AI), particularly large language models (LLMs), offers significant potential for medicine, it raises critical concerns due to the possibility of generating factually incorrect information, leading to potential long-term risks and ethical issues. This review aims to provide a comprehensive overview of the faithfulness problem in existing research on AI in healthcare and medicine, with a focus on the analysis of the causes of unfaithful results, evaluation metrics, and mitigation methods. Using PRISMA methodology, we sourced 5,061 records from five databases (PubMed, Scopus, IEEE Xplore, ACM Digital Library, Google Scholar) published between January 2018 to March 2023. We removed duplicates and screened records based on exclusion criteria. With 40 leaving articles, we conducted a systematic review of recent developments aimed at optimizing and evaluating factuality across a variety of generative medical AI approaches. These include knowledge-grounded LLMs, text-to-text generation, multimodality-to-text generation, and automatic medical fact-checking tasks. Current research investigating the factuality problem in medical AI is in its early stages. There are significant challenges related to data resources, backbone models, mitigation methods, and evaluation metrics. Promising opportunities exist for novel faithful medical AI research involving the adaptation of LLMs and prompt engineering. This comprehensive review highlights the need for further research to address the issues of reliability and factuality in medical AI, serving as both a reference and inspiration for future research into the safe, ethical use of AI in medicine and healthcare.