Banerjee, Dipti

Background: Familial transthyretin amyloidosis is a disease caused by misfolded transthyretin aggregates that can impair multiple organ systems. Liver transplantation is the first-line treatment for familial transthyretin amyloidosis. Research Question: Our objective is to study outcomes and survival among patients with familial transthyretin amyloidosis after transplantation. Design: All patients undergoing orthotopic liver transplant for familial transthyretin amyloidosis at Mayo Clinic between 1997 and 2012 were reviewed. Baseline clinical characteristics, organs transplanted, and posttransplant clinical course were assessed. Results: Of the 40 patients, 7 patients had the V30M mutation and 33 had other mutations. Nineteen patients received liver only, 19 liver and heart, and 2 combined liver, heart, and kidney transplants. The 5-year overall survival was 85% for those receiving multiple organ transplant and 52% for those receiving liver transplant only ( P = .057). There was no difference in overall survival based on mutation (V30M vs other mutations), but survival was confounded by varied disease involvement and organs transplanted. Those who had early death (≤24 months from liver transplant) had a higher incidence of baseline peripheral neuropathy, autonomic neuropathy, lower modified BMI, and higher alkaline phosphatase. Discussion: Outcomes of orthotopic liver transplant in familial transthyretin amyloidosis are variable due to heterogeneity in mutations and patient status at the time of transplant. Familial transthyretin amyloidosis can progress, despite liver transplantation. Patients receiving combined liver, heart/kidney transplant demonstrated improved survival compared to liver transplant alone.

INTRODUCTION: Malpresentation is a common problem early in pregnancy. The rate of spontaneous version (SV) by gestational age has been studied, but is poorly understood after preterm premature rupture of membranes (PPROM), which complicates 3% of pregnancies in the United States. The objective of our study was to report the rate of SV following PPROM. METHODS: We conducted a retrospective cohort study on women age 18 or above with singleton intrauterine pregnancies who experienced PPROM between 22-34 weeks gestation and were delivered at the Mayo Clinic from 01/2010-12/2015. Demographic characteristics, obstetric history, and prenatal care details were abstracted through chart review. Aneuploidy, major fetal anomalies, maternal Müllerian anomalies, and delivery less than 24 hours after PPROM were excluded. RESULTS: Among 120 patients included in the study, 29 were nulliparous. Mean maternal age at PPROM diagnosis was 29.3 years. The median gestational age at PPROM diagnosis and at delivery was 31 1/7 weeks and 32 5/7 weeks, respectively. Intrauterine growth restriction was diagnosed in 10 women following PPROM. Sixty-nine (57.5%) patients delivered vaginally and 51 (42.5%) underwent cesarean section. Twenty-three (19.2%) women experienced SV following PPROM. Of the 21 breech presentations at PPROM diagnosis, 4 (19%) converted to cephalic presentation at delivery. CONCLUSION: We determined that approximately 1 out of 5 women experience SV in the setting of PPROM. Data about SV following PPROM is important in order to counsel patients about expectations for the remainder of their pregnancy. This new evidence can better prepare patients and providers for safe delivery.