Introduction: The expansion of metabolic dysfunction-associated steatohepatitis (MASH) as an indication for liver transplantation has significantly impacted transplant populations, where cardiometabolic dysfunction, obesity, diabetes, and hypertension remain increasingly prevalent after transplant. Hispanic/Latino populations bear a disproportionate burden of MASH (Cumpian et al., 2025), however, transplant-specific data regarding post-liver transplant metabolic and clinical outcomes by ethnicity remain limited. Methods: A review of current literature was conducted alongside practice-based workflow analysis within a multidisciplinary liver transplant program. Purpose: To examine whether Latino ethnicity is associated with differences in post-liver transplant metabolic and clinical outcomes among patients transplanted for MASH. Results: From 2014–2024, 332 patients underwent liver transplantation for MASH, including 211 Latino recipients (63.6%). Latino recipients had more public insurance, lower household income, and higher diabetes, hyperlipidemia, and obesity rates. Latina females had the most rejection episodes. One-year Latino survival remained high at 93.4%. Conclusion: Comparable post-liver transplant outcomes in Latino recipients suggest specialized transplant care may help mitigate traditional disparities. Development of targeted, transplant-specific metabolic surveillance may improve care consistency and long-term outcomes as MASH-related transplantation continues to grow.

Compliance with follow-up medical appointments is crucial. To identify areas for improvement, we surveyed 103 patients seen in August and September 2025, followed by a chart review of attendance for 1,543 scheduled visits from January 2022 to September 2025. Patients were classified into Group A, with 0-20% appointments missing (57 patients), and Group B, with more than 20% missed (46 patients). A and B were compared along 13 key factors, including logistics (caregivers, transportation time), appointment history (number of scheduled visits), demographics (age, gender, retirement), personal habits (English fluency, phone usage, and type), and health history (number of prescriptions, hypertension, diabetes, and BMI). Statistical analysis used the t-test and Fisher's Exact Test. Patients with transportation times shorter than 20 minutes (n=55 patients) had significant attendance compliance (Fisher p=.0439). Furthermore, patients with overweight and/or diabetes (n=53) were more compliant with attendance (t-test p=.0282). Patients with 10 or fewer total scheduled appointments (n=55) were more compliant than those with more scheduled (t-test p=.00185). Patients who reported both less phone usage and no caregiver (n=29) attended an average of 7.948% fewer appointments (t-test p=.0309). Nonsignificant factors included age, gender, retirement, language spoken, number of prescriptions, and hypertension. The results offer insight into the barriers of outpatient follow-up and suggest factors to improve visit compliance.

22q11.2 copy number variants (CNVs) involve deletions (~1:3,700 births) or duplications (~1:1,600). Both increase risks for ADHD and autism; deletions specifically elevate psychosis risk. We used allometric scaling to determine if 22q11.2 CNVs exhibit regional cerebellar volume differences due to overall smaller brain size or atypical growth rates (hypo- vs. hyperallometry). We analyzed 315 participants (mean age = 16.4; 22qDel n=111, 22qDup n=37, controls n=167). 28 cerebellar subregions were compared against estimated intracranial volume (eTIV) and total cerebellum volume. Volumes were site-harmonized and log-transformed. Linear models assessed group-by-size interactions (beta) with controls as reference. Relative to eTIV, Left Crus I showed flatter scaling in 22qDup (beta = -0.621, p = .029), while 22qDel showed steeper scaling in Left V (beta = .411, p = .017) and flatter scaling in Vermis IX (beta = -.495, p = .016). Left Crus I remained significant for 22qDup after FDR correction (p_fdr = .028). Regarding total cerebellum volume, 22qDup showed atypical scaling across five regions (beta range: -0.842 to 0.517). 22qDel showed significant scaling in Left V, Right VIIIA, and Vermis IX (beta range: -0.563 to 0.810); Right VIIIA and Vermis IX survived FDR correction (p_fdr = .028). Results indicate 22q11.2 CNVs disrupt coordinated growth between cerebellar subregions and the brain, suggesting atypical growth trajectories as a neurobiological mechanism for neuropsychiatric risk.

Disc degeneration and facet joint spondyloarthropathy of the cervical and lumbar regions of the spine are prime sources of chronic pain and disability. While mesenchymal stem cell (MSC) therapies have gained traction, clinical data on exosome-based treatments for the spine is currently quite limited. Our pilot study seeks to bridge this gap by investigating the safety and therapeutic potential of human trophoblast stem cell-derived (hSTC) exosomes delivered via facet joint injection in patients suffering with chronic pain from disc degeneration and facet joint spondyloarthropathy. This study will use exosomes developed by Aexobio (product name is Æxosome™) on a population of about 5-10 patients. Although the sample size of this study will be small, it will provide foundational data on the spinal regenerative potential of hSTC-derived exosomes. Patients should already have received a VAS score above 4 and/or an ODI/NDI score above 30%. There will be three follow-ups after injection, where patients will undergo VAS, and ODI/NDI testing. These will be performed 1-4 weeks, 8 weeks, and 3-12 months after injection. Patients will undergo MRI and CT scans as per clinician discretion. The primary outcome metric is the average change in VAS scores 12 months post-treatment, along with adverse events. Secondary outcome metrics include radiological changes on MRI/CT, changes in scores of NDI and ODI, and patient satisfaction.

Retinitis Pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations characterized by progressive photoreceptor loss, with significant variability in clinical severity. X-linked RP (XLRP), particularly involving RP2 mutations, represents one of the most severe forms, yet genotype-phenotype relationships remain poorly understood. This study investigates whether mutation specific disruptions in RP2-ARL3 protein binding can explain variability in disease severity and serve as a basis for risk stratification. Clinical data from RP2 patients were aggregated and classified by mutation type and severity. Structural and computational analyses were performed using the crystallized RP2-ARL3 complex and AlphaFold-Multimer models (to account for missing residues). Binding affinity changes were predicted using multiple computational tools, benchmarked against experimental data, and applied to clinically observed missense variants. Statistical analyses included chi-square, fisher exact testing, and Mann-Whitney U testing on both missense and nonsense variants. Truncating mutations were significantly associated with severe disease (p = 0.0486). Among computational models, mCSM-PPI2 showed the strongest correlation with experimental ΔΔG (r² = 0.621, p = 0.0029). A ΔΔG threshold of 0.32 kcal/mol classified variant severity with 84.6% accuracy underscoring the significance of the N-terminal and RP2-ARL3 pathway specifically. The study helps provide a framework for RP2 genotype-informed risk stratification.