Incidental diagnosis of Mazabraud syndrome presenting as a lower extremity soft tissue mass: A case report and literature review.

Introduction And Importance: Mazabraud's syndrome is a rare condition, describing the presence of fibrous bone dysplasia and intramuscular myxomas, with an incidence of 1:1,000,000. The aim of this article is to provide a review of the clinical presentation of Mazabraud's syndrome, including indications for surgical treatment, and follow-up strategies.

Case Presentation: A 46-year-old woman presented with a 3-month history of a painless mass in the right gluteal region, she referred a rapid increase in the mass's volume in the 3 weeks prior to consultation.

Coexistent HCN4 and GATA5 Rare Variants and Atrial Fibrillation in a Large Spanish Family.

Background: Familial association of atrial fibrillation (AF) can involve single gene variants related to known arrhythmogenic mechanisms; however, genome-wide association studies often disclose complex genetic variants in familial and nonfamilial AF, making it difficult to relate to known pathogenetic mechanisms.

Methods: The finding of 4 siblings with AF led to studying 47 members of a family. Long-term Holter monitoring (average 298 hours) ruled out silent AF.

Incorporation of Genetic Studies in the Kidney Transplant Evaluation Clinic: The Value of a Multidisciplinary Approach.

Background: Recent studies identified underlying genetic causes in a proportion of patients with various forms of kidney disease. In particular, genetic testing reclassified some focal segmental glomerulosclerosis (FSGS) cases into collagen type 4 (COL4)-related nephropathy. This knowledge has major implications for counseling prospective transplant recipients about recurrence risk and screening biologically related donors.

Impact of Pregnancy on GFR Decline and Kidney Histology in Kidney Transplant Recipients.

Introduction: Women with advanced kidney disease are advised to wait until after transplant to pursue pregnancy, but the impact of pregnancy on estimated glomerular filtration rate (eGFR) decline and kidney histology is unclear.

Methods: We identified a cohort of women aged 18 to 44 years at transplant from 1996 to 2014 at our 3-site program ( = 816) and determined whether they had a pregnancy >20 weeks gestation post-transplant by chart review. Outcomes included rate of change in eGFR after pregnancy, changes in kidney histology before and after pregnancy, graft failure, and 50% reduction in eGFR.

Pregnancy, Contraception, and Menopause in Advanced Chronic Kidney Disease and Kidney Transplant.

Reproductive health is an essential part of the care of women with kidney disease. However, the self-reported patient experience of reproductive issues has been underexplored. We identified a cohort of women ages 18 to 44 at the time of kidney transplant from 1996 to 2014 at our 3-site program ( = 816).