Papillary fibroelastomas (PFE) are benign neoplasms with little available outcome data. Mayo Clinic researchers conducted a study published in the Journal of the American College of Cardiology to describe the frequency and clinical course of patients with surgically removed PFE and echocardiographically suspected, but unoperated, PFE.
Newborn screening (NBS) has developed throughout the years into a public health prevention program aimed at identifying an increasing number of conditions for which early intervention can prevent premature mortality, morbidity, and disabilities. In a recent article published in the journal Seminars in Perinatology, Mayo Clinic researchers reviewed the current state of NBS for lysosomal storage disorders and discussed their importance in NBS programs.
Mayo Clinic researchers conducted a study published in Clinical Cancer Research to determine whether there is a primary central nervous system lymphoma-specific genomic signature and, if so, how it differs from systematic diffuse large B-cell lymphomas.
Mayo Clinic researchers conducted a comprehensive evaluation of cis-acting eQTLs in the American Journal of Human Genetics by analyzing RNA-seq gene-expression data and genome-wide high-density genotypes.
Somatic mutations, such as CALR and ASXL1, and karyotype have been shown to independently influence survival in patients with myelofibrosis (MF). Mayo Clinic researchers conducted a study to determine if such genetic markers also influence treatment response in MF patients receiving single agent momelotinib and whether it overcomes the detrimental effect of prognostically relevant mutations in MF.
In a recent study published in the Journal of the American Society of Nephrology, Mayo Clinic researchers studied glomerular C4d for diagnosis of proliferative glomerulonephritis.
Multiple system atrophy is a sporadic alpha-synucleinopathy that typically affects patients in their sixth decade of life and beyond. Pathologically, it is characterized by glial cytoplasmic inclusions containing filamentous alpha-synuclein, but neuronal inclusions have also been reported but remain less well defined. Mayo Clinic researchers conducted a study published in the journal Brain to further define the spectrum of neuronal pathology.
A recent Mayo Clinic study was conducted to assess whether the FilmArray Blood Culture ID panel, from BioMérieux subsidiary BioFire Diagnostics, can be used to determine the cause of prosthetic joint infection. “GenomeWeb” interviewed Robin Patel, corresponding author on the independent study and chair of the division of clinical microbiology at the Mayo Clinic.
A recent Mayo Clinic study was selected as one of the “10 most significant reports during the past year that integrate Infection Control practice with Diagnostic Microbiology testing” at the 2015 American Society for Microbiology (ASM) meeting. Dr. Reeti Khare, a former Clinical Microbiology fellow at Mayo Clinic, and Mark Espy, a Development Coordinator in Clinical Microbiology, completed the study.
In the United States, pre-transfusion testing of potential recipients is required before any routine transfusion and is an essential step in maximizing safe and effective transfusion outcomes for recipients. The Mayo Clinic Hospital – Rochester Pre-Surgical Sample (PSS) Program allows patients who are scheduled for elective surgery to have their samples collected for pre-transfusion testing. This advanced testing allows ample time to investigate and resolve any serologic problems due to unexpected red-cell-directed antibodies. The efforts and processes implemented by the PSS Program were recently highlighted in the journal Transfusion.
Amyloidosis derived from leukocyte cell-derived chemotaxin 2 (ALECT2), a newly recognized form of amyloidosis, has already been established as a frequent form of systemic amyloidosis in the United States, with predominant involvement of the kidney and liver. Mayo Clinic researchers reviewed recent Mayo Clinic and non-Mayo Clinic studies to establish the clinicopathologic characteristics, incidence, and outcome of amyloidosis derived from ALECT2.
Everolimus is an oral agent that targets the mTOR pathway. Mayo Clinic researchers, first author Mamta Gupta, conducted a study published in the journal Blood to investigate mTOR pathway activation in T cell lymphoma (TCL) cell lines and assess anti-tumor activity in patients with relapsed/refractory TCL in a Phase II trial.
In a study published in the journal Methods, Mayo Clinic researchers John Mills, Ph.D., David Murray, M.D., Ph.D., and David Barnidge, Ph.D., established a mass spectrometry-based method to assign molecular mass to the immunoglobulin light chain of the M-protein and used it to detect the presence of M-proteins.