Discovery of a MET-driven monogenic cause of steatotic liver disease.

Background Aims: Metabolic dysfunction-associated steatotic liver disease (MASLD) affects about a third of adults worldwide and is projected soon to be the leading cause of cirrhosis. It occurs when fat accumulates in hepatocytes and can progress to metabolic dysfunction-associated steatohepatitis (MASH), liver cirrhosis, and hepatocellular carcinoma. MASLD pathogenesis is believed to involve a combination of genetic and environmental risk factors.

Changes in breast cancer risk associated with benign breast disease from 1967 to 2013.

Background: Benign breast disease (BBD) increases breast cancer (BC) risk progressively for women diagnosed with nonproliferative change, proliferative disease without atypia (PDWA), and atypical hyperplasia (AH). Leveraging data from 18 704 women in the Mayo BBD Cohort (1967-2013), we evaluated temporal trends in BBD diagnoses and how they have influenced associated BC risk over 4 decades.

Methods: BC risk trends associated with BBD were evaluated using standardized incidence ratios (SIRs) and age-period-cohort modeling across 4 eras-premammogram (1967-1981), precore needle biopsy (CNB) (1982-1992), transition to CNB (1993-2001), and CNB era (2002-2013).

The use of Cortiva® Allograft Dermis in two-staged breast reconstruction: A matched-comparison and cost analyses study.

Background: Acellular dermal matrices (ADM) are an adjunct in implant-based breast reconstruction. While clinical outcomes have generally been equivocal between brands, a cost analysis between these brands has yet to be conducted. This study reports a single, academic institution's experience with 2 ADM brands in breast reconstruction and provides data on clinical and financial outcomes.

Optimal Time for Nevus Sebaceous Excision and Predictors of Surgical Outcomes and Secondary Intralesional Neoplasms: The Mayo Clinic Experience Over 37 Years.

Background: Controversy exists around the optimal timing of resection of nevus sebaceous (NS). The authors aim to determine optimal timing of NS resection and identify predictors of surgical outcomes and secondary intralesional neoplasms.

Methods: Retrospective chart review of all patients with biopsy-proven NS diagnosis treated at the authors' institution between 1987 and 2024.

The Fate of the Frozen Bone Flap: Quantitative and Volumetric Assessment Following Cranioplasty Using the Autologous Bone Flap.

Objective: The pattern, rate, and natural history of bone flap resorption following cranioplasty with frozen, autologous bone flap has not been fully defined. The authors sought to quantify the progression and natural history of bone flap resorption.

Methods: Patients who had craniectomy and delayed cranioplasty with stored, frozen bone flap between 2012 and 2022 were included in this study.

Factors Associated With Enrollment to a Decentralized Study.

Objective: To assess whether the mode and formatting of invitations affect enrollment in a large, decentralized study.

Patients And Methods: Between July 1, 2022, and October 30, 2022, we prospectively compared various approaches to enroll patients in the Tapestry DNA Sequencing Research Study, a decentralized exome-sequencing study. In phase 1, patients were randomized to receive invitations via the electronic health record (EHR) patient portal or email (cohort 1, 69,852 patients).

Mayo Clinic Tapestry Study: A Large-Scale Decentralized Whole Exome Sequencing Study for Clinical Practice, Research Discovery, and Genomic Education.

Objective: To execute a large-scale, decentralized, clinical-grade whole exome sequencing study, coined Tapestry, for clinical practice, research discovery, and genomic education.

Patients And Methods: Between July 1, 2020, and May 31, 2024, we invited 1,287,608 adult Mayo Clinic patients to participate in Tapestry. Of those contacted, 114,673 patients were consented and 98,222 (65.

Perceptions of Delayed Alopecia Among Breast Cancer Survivors.

Background: Retrospective studies suggest that some breast cancer survivors report treatment-associated hair loss or thinning years after their diagnosis. This study investigates frequency and perceptions of alopecia persisting 6 years after patients' breast cancer diagnoses.

Methods: Breast cancer survivors participating in the Mayo Clinic Breast Disease Registry (MCBDR) were mailed a survey 6 years after diagnosis.

Polygenic risk scores stratify breast cancer risk among women with benign breast disease.

Purpose: Most breast biopsies are diagnosed as benign breast disease (BBD), with 1.5- to fourfold increased breast cancer (BC) risk. Apart from pathologic diagnoses of atypical hyperplasia, few factors aid in BC risk assessment of these patients.

Radially Emitting Diode Laser Closure of Transsphincteric Fistula-in-Ano.

Background: There has been a shift in the treatment of fistula-in-ano towards a focus on preservation of continence while simultaneously eradicating disease. Utilization of radially emitting diode laser catheters to ablate fistula tracks has been described since 2011 with heterogenous studies publishing success rates ranging from 20% to 89%.

Objective: Present our experience managing solitary transsphincteric fistulas of cryptoglandular origin with radially emitting diode laser.

Tofacitinib Exposure Does Not Increase Postoperative Complications Among Patients With Ulcerative Colitis Undergoing Total Colectomy: A Retrospective Case-Control Study.

Background: Ulcerative colitis, total colectomy, and tofacitinib have all been associated with an increased risk of venous thromboembolism.

Objective: To determine whether preoperative tofacitinib exposure increases venous thromboembolism or other postoperative complications among patients with ulcerative colitis undergoing subtotal colectomy, total colectomy, or total proctocolectomy.

Design: Retrospective, case-controlled study at a single institution.

Concurrent RB1 Loss and BRCA Deficiency Predicts Enhanced Immunologic Response and Long-term Survival in Tubo-ovarian High-grade Serous Carcinoma.

Purpose: The purpose of this study was to evaluate RB1 expression and survival across ovarian carcinoma histotypes and how co-occurrence of BRCA1 or BRCA2 (BRCA) alterations and RB1 loss influences survival in tubo-ovarian high-grade serous carcinoma (HGSC).

Experimental Design: RB1 protein expression was classified by immunohistochemistry in ovarian carcinomas of 7,436 patients from the Ovarian Tumor Tissue Analysis consortium. We examined RB1 expression and germline BRCA status in a subset of 1,134 HGSC, and related genotype to overall survival (OS), tumor-infiltrating CD8+ lymphocytes, and transcriptomic subtypes.

Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.

To identify credible causal risk variants (CCVs) associated with different histotypes of epithelial ovarian cancer (EOC), we performed genome-wide association analysis for 470,825 genotyped and 10,163,797 imputed SNPs in 25,981 EOC cases and 105,724 controls of European origin. We identified five histotype-specific EOC risk regions (p value <5 × 10) and confirmed previously reported associations for 27 risk regions. Conditional analyses identified an additional 11 signals independent of the primary signal at six risk regions (p value <10).