Citations

Background: Understanding personal and geographic factors associated with smoking is important to design and implement interventions focused on reducing cancer health disparities. Scant research has been published recently regarding factors associated with smoking history associations within rural communities. Purpose: To examine demographic factors and rural residence history for associations with smoking history. Methodology: In a cross-sectional study of cancer-related behaviors, 1,786 adults (mean age 47.9 ± 17.5 years; 53% female, 84% White) completed an online survey in 2020. We examined factors associated with smoking history (having smoked at least 100 cigarettes) using independent t-tests, chi-square tests, and logistic regression. Results: Of the participants, 36% had a rural residence history and 49% had a smoking history. A larger proportion of men than women (61% vs. 37%; p < .001), White than Black participants (50% vs. 39%; p = .001), and rural than nonrural residents (53% vs. 46%; p = .005) had a smoking history. Logistic regression analysis revealed that the young age group (18–30) was less likely ( p = .002), whereas the middle age group (31–50) was more likely ( p < .001) to have a smoking history than those older than 50 years. Rural residence was associated with a smoking history among women ( p < .001), but not among men ( p = .70) in this sample. Conclusions: Tobacco control efforts are needed to focus on middle-aged men in general and women with rural residence history. Implications: Nurse practitioners are uniquely positioned to directly contribute to future research with self-identified rural populations that could help inform future public health policy.

Dynamic fluid and solute transportation across the arachnoid barrier in the meninges of healthy participants was measured by tracking intravenous gadolinium-based contrast agent entering cerebrospinal fluid from dural blood vessels using dynamic dual-spin-echo perfusion MRI.

Background: Sodium–glucose cotransporter 2 inhibitors (SGLT2i) are nephroprotective but are associated with early eGFR decline, also termed “eGFR dip.” Despite elevated risk of kidney disease, this phenomenon is understudied among people with HIV (PWH). Methods: In a 1:1 propensity score–matched cohort study using data from 9 Centers for AIDS Research Network of Integrated Clinical Systems (CNICS) sites, we compared new SGLT2i users with new users of other antihyperglycemic classes. We estimated adjusted hazard ratios (aHRs) for time to ≥10% and ≥30% eGFR decline using multivariable Cox proportional hazards models and analyzed eGFR change using multivariable linear mixed models. In addition, longer-term eGFR trends over 24 months were visualized using locally weighted scatterplot smoothing (LOWESS) curves. Results: Among 1554 eligible PWH, we obtained 295 matched pairs. Over 6 months, eGFR decline incidence of ≥10% and ≥30% was higher among users of SGLT2i versus other antihyperglycemic classes (58.2% vs. 37.4%; aHR: 1.79; 95% CI: 1.40%–2.28%; and 17.3% vs. 9.8%; aHR: 1.69; 95% CI: 1.05–2.73; respectively). The adjusted mean eGFR change at 6 months was −2.62 mL/min/1.73 m 2 for SGLT2i versus 0.05 mL/min/1.73 m 2 for other classes. Long-term eGFR trends revealed an expected initial decline after SGLT2i initiation, followed by stabilization and a slower subsequent decline compared with other classes. Conclusions: Acute eGFR dips were more common among PWH initiating SGLT2i relative to other antihyperglycemic classes, although overall declines were small, transient, and consistent with the general population. Further research is needed to explore the long-term effects of SGLT2i in PWH.

BACKGROUND: Pectus deformities are common chest wall abnormalities, with surgical correction recommended for severe cases. Female patients undergoing repair may have a history of breast implants or seek concurrent augmentation. This retrospective study examines clinical implications of pectus repair in patients with breast implants and provides recommendations. STUDY DESIGN: A retrospective review of female patients undergoing pectus repair at Mayo Clinic Arizona (January 1, 2010 to February 1, 2025) was conducted. Outcomes and complications were analyzed in patients with and without breast implants. RESULTS: In total, 456 female patients were included (447 excavatum, 7 arcuatum, and 2 carinatum; median age 32.7). Most patients (78.5%) underwent primary minimally invasive repairs (MIRPE); 6.6% underwent primary hybrid MIRPE, 5.5% underwent redo MIRPE, and 9.4% underwent primary redo open and complex reconstructions. In total, 104 patients (22.8%) had a history of breast implants, with 68 patients having breast implant-related procedures at the time of pectus surgery. At 12 months, the cumulative incidence of infection was significantly higher in patients with implants present at the time of pectus repair than in those without (8.8% vs 1.8%; log rank, p = 0.0015). A 4.9-fold increase in overall infection was seen in patients with indwelling or placed implants during pectus surgery. Deep infections were significantly more common in patients with implants (4.4%) than without (1.0%; p = 0.035). Similarly, superficial infections were more frequent in patients with implants (4.4%) than without (0.8%; p = 0.016). At 30 days, patients with implants had higher rates of infection (p = 0.032), pneumothorax (p = 0.008), and hematoma (p = 0.027), with no significant differences in other complications. CONCLUSIONS: Breast implants at the time of pectus repair were associated with increased risk of postoperative infection, pneumothorax, and hematoma. Removal of implants before pectus repair is recommended with delayed replacement, if desired.

Abstract Aims Calcium release channel deficiency syndrome (CRCDS) results from loss-of-function (LOF) variants in the RYR2-encoded type 2 ryanodine receptor (RyR2), predisposing patients to sudden cardiac arrest/death (SCA/SCD) without abnormalities on a stress electrocardiogram (ECG). Undetected CRCDS may underlie idiopathic ventricular fibrillation (IVF) and sudden unexplained death in the young (SUDY). We aimed to determine the prevalence of potential CRCDS-causative RYR2 variants in IVF and SUDY. Methods and results We reviewed clinical evaluation and RYR2 genetic analysis of 169 IVF patients and 279 SUDY victims. Only ultra-rare (&lt;0.005% in gnomAD) nonsynonymous RYR2 variants were considered potentially pathogenic. Among IVF patients, 6/169 (3%) overall—and 6/67 (9%) with exertion-related SCA—harboured an RYR2 variant and represent potential CRCDS cases. All exhibited normal resting and stress ECGs. Genetic analysis revealed six distinct RYR2 variants, two previously characterized as LOF. In SUDY, 31/279 victims (11%) had a RYR2 variant (30 unique variants), predominantly observed in exertion-related SCD 20/83 (24%) vs. rest-related 11/196 (6%). Of the 14 SUDY victims with functionally characterized RYR2 variants, five (2% of total cohort) had a LOF variant; among the 56 exertion-related SUDY cases, four (7%) had a LOF variant. Conclusion CRCDS may account for 3% of IVF overall and 9% of exertion-related SCA in IVF. Ultra-rare RYR2 variants may underlie up to 11% of SUDY, with 65% of RYR2-positive cases occurring during exertion. LOF-RYR2 variants may contribute to ≥7% of exercise-associated SUDY. Accurate identification of the underlying ryanodinopathy is essential for clinical management of affected patients.

Abstract Context Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a rare, autosomal dominant disorder due to pathogenic heterozygous variants in POLD1. Clinical features of MDPL vary between patients; however, there is no previously reported genotype-phenotype association. Objective This work reports 14 new patients with lipodystrophy due to POLD1 variants and compares phenotypic differences between those with p.Ser605del and missense variants. Methods Genetic sequencing was performed on DNA of 14 patients for POLD1 variants, including exome (n = 10), genome (n = 1), and candidate gene (n = 3) sequencing. Comparisons of demographic, clinical features, and metabolic complications between carriers of POLD1 p.Ser605del and missense variants in our cases and those reported in the literature were made using the Fisher exact test for categorical variables and the t test for continuous variables. Results A total of 9 different POLD1 variants were identified in our patients, including 3 novel variants: p.Asp25Glufs*16, p.Arg507His, and p.Trp781Cys. Compared to individuals with missense variants (n = 15), those with the p.Ser605del (n = 26) POLD1 variant had significantly increased prevalence of mandibular hypoplasia (57% vs 100%, respectively; P = .015), small mouth (36% vs 100%, respectively; P = .015), crowded teeth (44% vs 91%, respectively; P = .046), and hypogonadism in male patients (0% vs 92%, respectively; P = .046). There were no differences in the prevalence of metabolic complications, such as diabetes, hypertriglyceridemia, and hepatic steatosis, in the two groups. Conclusion Individuals with the heterozygous POLD1 p.Ser605del variant had typical MDPL with more severe phenotype compared to those with missense variants with atypical MDPL.

Abstract Context Evidence on the etiology and function of adrenal masses in younger adults is scarce. Objective This work aimed to characterize the clinical, imaging, and biochemical presentation of adrenal masses in 18- to 40-year-olds. Methods A retrospective cohort study was conducted January 2016 to December 2021 at a tertiary academic medical center. Participants included young adults (age 18-40 years) with adrenal masses identified through radiologic registry. Exclusion criteria included preexisting adrenal masses before 2016, hyperplasia, or masses smaller than 1 cm. Outcomes included adrenal mass diagnosis, as determined by reference standard of histopathology, radiologic surveillance, and biochemical evaluation. Results A total of 255 patients (women 142 [56%]; White 156 [61%]; median age 35 years [interquartile range 30-39 years]) were included. Comorbidities included genetic predisposition syndromes (16, 6.3%), preexisting malignancy (70, 27%), obesity (100, 48%), hypertension (89, 35%), and diabetes (25, 10%). The majority of adrenal masses were incidentally found (184, 72%) and median size was 1.9 cm (IQR 1.4-2.7 cm) on detection. Among adrenal masses in young adults, prevalence of malignancy and pheochromocytoma was 16% and 4%, respectively; among adrenal incidentalomas, 5% were malignant. Factors associated with malignancy or pheochromocytoma in multivariable analysis included nonincidental mechanism of discovery (odds ratio [OR] 15.5; 95% CI, 7.2-35.7; P &lt; .001), and larger size (OR 1.5; 95% CI, 1.2-2.0; P &lt; .001). Hormonal evaluation was performed in only 57 (22%) patients and was positive for hormone hypersecretion in 16 (28%) of tested individuals. Conclusion We demonstrated a high prevalence of malignancy and pheochromocytoma in our cohort of young adults with adrenal masses. Completion of appropriate hormonal work-up was infrequent, potentially missing patients with functioning adrenal adenomas.