Stories

This week's research roundup feature: VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome, caused by somatic mutations in UBA1, is an autoinflammatory disorder with diverse systemic manifestations. Thrombosis is a prominent clinical feature of VEXAS. The risks factors and frequency of thrombosis in VEXAS are not well described, due to the disease's new discovery and paucity of large databases. We evaluated 119 VEXAS patients for venous and arterial thrombosis and correlated their presence with clinical outcomes and survival.

Prevented from providing testing services to its community members due to a non-compete agreement with a national laboratory, Kootenai Health laboratory leaders deepened their relationship with Mayo Clinic Laboratories, receiving tactical support and guidance to launch an in-house reference lab just days after the non-compete agreement expired.

This week's research roundup feature: Powassan virus (POWV) is an emerging arthropod-borne flavivirus, transmitted by Ixodes spp. ticks, which has been associated with neuroinvasive disease and poor outcomes.

Multiple doctors and multiple examinations could not figure out why Lauri Sieben had spent much of her life “never feeling quite right” physically. Fortunately for Lauri, that changed after her daughter Christy began working as a genetic counselor in Mayo Clinic’s Molecular Technologies Laboratory. After seeing similarities between the patient testing she was performing for the lab and the physical symptoms being experienced by her mom, Christy took a leading role in getting Lauri to undergo molecular and biochemical testing at Mayo Clinic. The results of that testing not only provided much-needed answers, but a promising path forward for Lauri.

This week's research roundup feature: Incapacitated regulatory T cells (Tregs) contribute to immune-mediated diseases. Inflammatory Tregs are evident during human inflammatory bowel disease (IBD); however, mechanisms driving the development of these cells and their function are not well understood. Therefore, we investigated the role of cellular metabolism in Tregs relevant to gut homeostasis.

This week's research roundup feature: Measles virus (MV) vaccine strains have shown significant preclinical antitumor activity against glioblastoma (GBM), the most lethal glioma histology. In this first in human trial (NCT00390299), a carcinoembryonic antigen-expressing oncolytic measles virus derivative (MV-CEA), was administered in recurrent GBM patients either at the resection cavity (Group A), or, intratumorally on day 1, followed by a second dose administered in the resection cavity after tumor resection on day 5 (Group B). 

This week's research roundup feature: Understanding the incidence, causes, and trends of sudden cardiac death (SCD) among young competitive athletes is critical to inform preventive policies.

Becca Johnson, a dedicated project manager, joined Mayo Clinic in 2014, driven by a desire to contribute to an organization making a global impact. With BioPharma Diagnostics, Becca oversees large projects, ensuring efficient sample handling and timely client results. Committed to patient-centric care, she works on transitioning clients to electronic solutions for streamlined processes. Becca finds purpose in collaborative efforts that shape healthcare's future and positively impact patients' lives.

This week's research roundup feature: To describe a 41-year-old woman with a history of neonatal onset multisystem inflammatory disease, on treatment with daily subcutaneous injections of 600 mg of recombinant interleukin-1 receptor antagonist (IL-1Ra) protein, anakinra, since the age of 28, who presented with golf-ball size nodules at the anakinra injection sites, early satiety, new onset nephrotic syndrome in the context of normal markers of systemic inflammation.

On the brink of losing her battle with acute myeloid leukemia, Shannon Camlek arrived at Mayo Clinic as a last hope. Her chances didn’t look good, but with the help of specialized genetic testing, particularly FISH (fluorescence in situ hybridization) studies, doctors were able to detect the specific gene mutations responsible for her symptoms and disease. The test results also helped Shannon’s care team target her treatment accordingly, and finally put an end to what Shannon likens as starring in her own personal horror movie while in search of hope and healing.

This week's research roundup feature: Sarcomas are a recently identified group of undifferentiated round/spindle cell neoplasms with a predilection for the head and neck region.

This week's research roundup feature: Histoplasma and Blastomyces antigen detection assays are commonly used diagnostic tools. However, a high level of cross-reactivity between these antigens prevents definitive pathogen identification by these assays alone.

Endometrial cancer affects thousands annually and ranks as the fourth most common cancer among women in the United States. At the forefront of innovative discoveries in endometrial cancer diagnostics are Mayo Clinic's Department of Laboratory Medicine and Pathology consultants. Sounak Gupta, M.B.B.S., Ph.D., vice chair of Oncology Practice for the Division of Laboratory Genetics and Genomics; Maryam Shahi, M.D., senior consultant for Anatomic Pathology; and Andrea Mariani, M.D., M.S., division chair of Gynecologic Surgery, explore the critical significance of molecular profiling and collaborative efforts driving these innovations, highlighting Mayo Clinic’s revolutionary influence on patient care.