Citations

Background: Polydactyly surgery rates and trends are poorly characterized. The purpose of this study was to characterize national pediatric polydactyly management by examining operative and procedural trends over time, evaluating timing of treatment, identifying factors associated with interventions, and comparing costs and complications. Methods: We used the PearlDiver national administrative claims database to identify pediatric patients aged 18 and under with a diagnosis of polydactyly (2010-2023). We analyzed patients who received procedures coded as surgical correction or suture ligation, then characterized rates and factors associated with each intervention, and investigated postoperative complication rates. Results: Of 42 543 polydactyly patients, 3880 patients (9.1%) underwent surgery, and 5612 patients (13.2%) underwent procedures coded as suture ligation. Over the past decade, the incidence of polydactyly diagnosis and surgery has decreased, while rates of procedures coded as suture ligation have not changed significantly. In 2010, 12.0% of patients underwent surgery, compared to 7.3% in 2020. Patients of ages 1 to 2 years comprised the greatest proportion of the population who underwent surgical operations at 1729 patients (36.0%), and patients of ages 0 to 1 year comprised the greatest proportion of the population who underwent suture ligations at 3327 patients (51.0%) ( P < .001). Younger age at diagnosis and higher comorbidity index were associated with a greater likelihood of surgery, while greater mean family income was associated with a lower likelihood. Among treatment categories, surgery was associated with greater 1-year and total payer-reimbursed costs ( P < .05). Conclusions: We observed a declining incidence of pediatric polydactyly and polydactyly surgery. These findings may inform future guideline development and discourse for pediatric hand care.

Purpose While the clinical utility for Point-of-Care Ultrasound (POCUS) is well-established through its use in clinical practice to enhance diagnostic accuracy, expedite care, and improve patient interactions/communication, its impact on patient experience in outpatient consultative settings remains largely underexplored. We sought to evaluate patients’ experience and satisfaction by incorporating POCUS use during outpatient consultations. Methods In this prospective, cross-sectional survey study conducted in a consultative outpatient internal medicine practice, a continuous sample of 100 patients undergoing POCUS during routine medical evaluations participated. We assessed patient perspectives using a survey that was adapted from validated instruments. The following items were evaluated using the anonymized survey: the extent of patient understanding, the integration of POCUS into the consultation, its impact on patient-doctor communication, perceived quality of care, and overall patient experience. Results Most respondents felt better informed about their health (88%), more thoroughly examined (94%), and reported improved confidence in their physician’s assessment (92%) after the POCUS exam. In addition, POCUS was perceived as a natural part of the consultation (95%) and minimally burdensome (93%). Overall, 96% of study respondents agreed that POCUS improved their quality of care, and 98% described their experience as positive or very positive. Open-ended comments emphasized the immediacy of results, enhanced communication, and cost-effectiveness of the POCUS experience. Conclusion Incorporating POCUS in this environment improved patients’ perceptions of their physician, clinic, and overall care. These findings support the broader adoption of POCUS in similar clinical settings and its potential impact on healthcare delivery and patient satisfaction.

Abstract Background Keratoconus (KC) is a multifactorial disorder with unclear etiology, characterized by localized thinning and a cone-like protrusion of the cornea. The complex etiology of KC exacerbates the lack of an animal model. Previous studies by Tachibana et al. (2002) described an inbred mouse strain (SKC) with a spontaneous, androgen-dependent, cone-like corneal morphology. This study aimed to investigate the corneal phenotypes of SKC mice through an in-depth ophthalmic examination. Methods Mice (n=53) were examined via slit lamp biomicroscopy with fluorescein staining. Spectral-domain optical coherence tomography (SD-OCT) enabled central corneal thickness (CCT) measurement in selected mice (n=26 eyes), and OCT-based pachymetry mapping (n=16 eyes). In vivo corneal confocal microscopy was conducted on eyes to assess cellular morphology (n= 9 eyes). Eyes were collected for histology analysis (n=22). Results Lesions and epithelial breaks were present in ∼95% of eyes (n=101). Neovascularization, perforation, scarring, and hydrops were seen primarily in males. An opaque, unilateral cone-like morphology was exclusive to males (n=11). Male and female corneas showed no significant difference in CCT, though pachymetry mapping revealed regional thinning patterns in both sexes. Loosened epithelial tight junctions, stromal fibrosis, vascularization, and inflammation of variable severity were identified in both sexes. Conclusion This study identified previously unreported corneal phenotypes in SKC mice through ophthalmic examination. Unlike previous studies, gross and histological abnormalities were observed in female SKC mice. Our findings suggest a lower penetrance of the cone-like phenotype (∼20%) than previously reported (∼33%) and support that the conical phenotype in male mice may be secondary to keratitis.

Abstract Pancreatic cancer disproportionately affects Black individuals in the United States, but they have limited representation in genetic studies of pancreatic ductal adenocarcinoma (PDAC). To address this gap, we performed admixture mapping and genome-wide association analysis (GWAS) in genetically inferred African ancestry individuals (1,030 cases and 889 controls). Admixture mapping identified three regions with a significantly higher proportion of African ancestry in cases compared to controls (5q33.3, 10p1, 22q12.3). GWAS identified a genome-wide significant association at 5p15.33 ( CLPTM1L , rs383009:T>C, T Allele Frequency=0.51, OR:1.45, P value=1.24×10 -8 ), a locus previously associated with PDAC. Known loci at 5p15.33, 7q32.3, 8q24.21 and 7q25.1 also replicated (P value <0.01). Multi-ancestral fine-mapping identified two potential causal SNPs (rs3830069 and rs2735940) at 5p15.33. Collectively these findings identified novel PDAC risk loci and expanded our understanding of this deadly cancer in underrepresented populations, emphasizing the multifactorial nature of PDAC risk including inherited genetic and non-genetic factors. Statement of Significance To understand how genetic variation contributes to PDAC risk in Black people in North American, we studied individuals of genetically-inferred African ancestry. We identified novel risk loci and differences in the contribution of known loci. This demonstrates that ancestry-informed genetic analyses improve our understanding of PDAC risk and enhances discovery.

Introduction Sepsis is a global health priority with nearly 50 million cases annually. Cardiovascular dysfunction is common, frequently manifesting as hypotension that persists despite fluid resuscitation. Most affected patients require the use of intravenous (IV) vasoactive agents, typically necessitating intensive care unit (ICU)-level monitoring, invasive interventions and contributing substantially to healthcare costs. Midodrine, an oral alpha-1 agonist approved for orthostatic hypotension, has increasingly been used off-label as a vasopressor-sparing (reducing IV vasopressor use) strategy in sepsis, despite limited and inconsistent evidence. This pragmatic, randomised, open-label trial evaluates the efficacy and safety of midodrine in patients with sepsis-associated hypotension. We hypothesise that, compared with standard care, midodrine administration will reduce the duration of IV vasopressor use. Methods and analysis A total of 308 adult patients with sepsis-associated hypotension will be enrolled (154 per arm). The intervention group will, in addition to standard of care, receive enteral midodrine 10 mg three times daily. Outcomes will be ascertained pragmatically via electronic health record-based data retrieval and adjudicated by research coordinators blinded to treatment assignment. The primary outcome is time alive and off IV vasopressors in the first 28 days (in hours) after randomisation. Secondary outcomes include cumulative vasopressor exposure; use and duration of central venous access; cumulative fluid balance over the first 48 hours and up to 7 days of ICU stay; ICU and hospital length of stay; and ICU-, hospital-, and organ support-free days through day 28. Safety outcomes include adverse events potentially attributable to midodrine during hospitalisation including acute kidney injury. Primary analyses will follow an intention-to-treat framework, including all randomised participants according to their assigned treatment groups. Primary and secondary outcomes will be compared using a van Elteren test stratified by randomisation factors. A predefined secondary Bayesian analysis of the primary outcome will provide complementary estimates of treatment effect. Safety outcomes will be summarised descriptively without formal between-arm hypothesis testing. Ethics and dissemination The Mayo Clinic Institutional Review Board approved this protocol and required written informed consent from all participants (IRB# 24–0 00 121). Findings will be disseminated through peer-reviewed publications and international conference presentations. Trial registration number NCT06319248 .

Background/Objectives: As scleral lens (SL) use continues to expand, particularly for medically necessary management of corneal irregularity and ocular surface disease, it is important to determine if wear of these lenses is associated with eyelid disease. This study evaluated habitual SL wearers for meibomian gland obstruction, meibum quality, and signs of lid margin inflammation. Methods: Eligible participants wore scleral lenses in one or both eyes for any indication and had been wearing their current lens design(s) for at least six months, with habitual wear of ≥5 h per day, six days per week. Eyelid inflammation metrics were specifically assessed. Results: Forty-nine scleral lens wearers (32 females) were enrolled. Upper lid wiper epitheliopathy (LWE) was present in 21 eyes (43%), and lower LWE was present in 15 eyes (31%). Thirty-nine eyes (80%) had expressible meibomian glands. Eyes with no expressible meibum were significantly higher in ocular surface disease (39%, 7/18) than corneal irregularity (11%, 3/27) (p = 0.03). Lid margin telangiectasia was present in wearers with ocular surface disease (61%, 11/18) and corneal irregularity (19%, 5/26) (p = 0.005). Conclusions: Eyelid disease was common among habitual scleral wearers regardless of indication for lens use. Eyes with ocular surface disease demonstrated a higher prevalence of meibomian gland obstruction and lid margin telangiectasia compared to those with corneal irregularity.

Abstract Oncology Advanced Practice Providers (APPs), including Advanced Practice Registered Nurses, Physician Assistants, and Clinical Pharmacists (CPs), play a vital role in delivering high-quality, patient-centered cancer care across the United States. Despite their widespread presence in oncology practices, APPs remain underutilized in cancer clinical research, representing a missed opportunity to expand trial access and improve patient outcomes. Clinical trials are essential to advancing oncology care, yet participation remains critically low among adult patients. Given Oncology APPs’ and CPs’ central role in cancer care delivery, their meaningful engagement in oncology clinical trial research is imperative as the standard of oncology care. This position article, with contributions from 5 professional societies, presents solutions and resources to barriers limiting APPs’ and CPs’ involvement in cancer clinical research, including gaps in education, role expectations, limited protected time, restrictive policies, insufficient financial support, and underrecognition of contributions. Integrating APPs and CPs more fully into the clinical research enterprise is essential to improving trial access, patient outcomes, closing equity gaps, and accelerating innovation in oncology care.

COASY-related disorders (CRDs) are a spectrum of autosomal recessive conditions caused by the dysfunction of CoA synthase, an enzyme responsible for the final steps of CoA synthesis. Clinical manifestations of CRDs are highly variable, ranging from perinatal lethal pontocerebellar hypoplasia to childhood-onset neurodegenerative brain iron accumulation, which is often recognized after clinical regression. Recent reports have described a few individuals with CRD who screened positive for carnitine palmitoyltransferase-I deficiency by newborn screening (NBS). However, heterogeneous clinical presentations, conflicting biochemical/molecular sequencing of CPT1A, and a lack of metabolic characterization have led to lengthy, costly diagnostic journeys. To address some of these aspects, this investigation retrospectively evaluated NBS acylcarnitine patterns in five CRD cases using Collaborative Laboratory Integrated Reports (CLIR). A total of 25 metabolites/ratios were identified to deviate significantly from reference ranges and were primarily composed of elevated free carnitine and reduced long-chain acylcarnitine levels. While low acylcarnitine concentrations are often not reported due to a lack of lower reference cutoffs, ratios involving these metabolites relative to short-chain acylcarnitines could aid in identifying CRD cases via NBS. When comparing this pattern to CPT-Ia cases, we confirmed a nearly identical acylcarnitine pattern between these, and thus support the need to consider CRD in cases with NBS results suggestive of CPT-Ia. This study is the first case series to characterize NBS patterns in patients with CRD and highlights the unique opportunity for early detection, particularly in cases that are neonatally asymptomatic and have unremarkable confirmatory biochemical results.