Current clinical approaches for mutation discovery are based on short sequence reads (100-300 bp) of exons and flanking splice sites targeted by multigene panels or whole exomes. Short-read sequencing is highly accurate for detection of single nucleotide variants, small indels and simple copy number differences but is of limited use for identifying complex insertions and deletions and other structural rearrangements. We used CRISPR-Cas9 to excise complete and genomic regions from lymphoblast cells of patients with breast cancer, then sequenced these regions with long reads (>10 000 bp) to fully characterise all non-coding regions for structural variation.
View Article and Find Full Text PDFBackground: Kidneys from donors with hepatitis C virus (HCV) infection are traditionally considered to be at risk for poorer survival outcomes, as reflected in the kidney donor profile index (KDPI). Modern direct-acting antivirals may modify this risk.
Methods: Using United Network for Organ Sharing data, HCV-infected adult first-time kidney transplant recipients from 2014 to 2017 were examined.
Background: The activation and increased metabolic activity of T cells in acute cellular rejection could allow fluoro-2-deoxyglucose positron emission tomography to be utilized for detection of acute cellular rejection. The objective of this study was to evaluate the effectiveness of fluoro-2-deoxyglucose positron emission tomography in detecting acute cellular rejection in the clinical setting.
Methods: Fluoro-2-deoxyglucose positron emission tomography studies were performed on 88 orthotopic liver transplant patients at 7 and 17 days postoperatively (first positron emission tomography and second positron emission tomography, respectively).
Background And Objectives: Historically, nephrectomy for autosomal dominant polycystic kidney disease was performed by an open technique. We performed this study to compare outcomes in hand-assisted laparoscopic nephrectomy with open nephrectomy in this population.
Methods: Charts of patients with autosomal dominant polycystic kidney disease who underwent nephrectomy by a transplant surgeon from January 1, 2000, to December 31, 2011, were reviewed.
Background: The benefit of renal transplantation in obese patients is controversial, with many centers setting upper limits on body mass index (BMI) in consideration for listing patients for transplant. This study was undertaken to determine the effect of recipient obesity on delayed graft function (DGF) and graft survival after renal transplantation.
Methods: Retrospective review of all renal transplant recipients in the United Network for Organ Sharing database from January 1, 2004, through December 31, 2009, was performed.
Since first described by Starzl, combined heart and liver transplantation (CHLT) has been a relatively rare event, although utilization has increased in the past decade. This study was undertaken to review the United States experience with this procedure; UNOS data on CHLT was reviewed. CHLT was compared with liver transplantation alone and heart transplantation alone in terms of acute rejection within 12 months, graft survival, and patient survival.
View Article and Find Full Text PDFPurpose Of Review: BK virus is one of the most frequent causes of graft loss after renal transplantation, with BK virus-associated nephropathy occurring in roughly 8% of patients, and graft loss rates reported as high as 50%. This review is meant to highlight the literature on BK viral disease following renal transplantation published in the most recent year.
Recent Findings: Prevention of BK virus-associated graft loss requires early diagnosis of BK viral replication, which is best achieved by screening for BK viral DNA in the blood.
This study was undertaken to examine short-term outcomes of laparoscopic donor nephrectomy performed by transplant surgeons at a medium volume institution, with the specific goal of determining the presence of a learning curve effect. With institutional review board approval, a retrospective chart review was performed examining patient demographics, operative factors, and in-hospital outcomes over a 12-year period. Specific attention was paid to differences in outcomes between patients undergoing operation in the first versus the most recent 6-year period.
View Article and Find Full Text PDFBackground: Data on employment outcomes after successful renal transplantation are few. We conducted this study to identify favorable factors for employment after transplantation.
Methods: Adult patients <65 yr of age who underwent renal transplantation between January 1, 2002 and December 31, 2007 were surveyed.
Donor liver allografts with positive serology for hepatitis B core antibody [HBc (+)] have been increasingly used for liver transplantation. However, the optimal prophylactic regimen to prevent development of de novo hepatitis B has not been determined. To evaluate this, we screened United Network for Organ Sharing (UNOS) Standard Transplant Analysis and Research (STAR) registry data for adult recipients of HBc (+) organs who were HBsAg (-), and evaluated the effects of using prophylactic anti-viral therapies (HBIG and lamivudine) on patient and graft survival.
View Article and Find Full Text PDFCase Rep Transplant
December 2012
Patients with end-stage liver disease with renal failure can be considered for simultaneous liver kidney transplantation. There are, however, no clear guidelines as to the management of the well-compensated cirrhotic patient with end-stage renal disease. We present the case of a patient with cirrhosis who decompensated after renal transplantation.
View Article and Find Full Text PDFTransplant Rev (Orlando)
October 2010
This article reviews the risks of transplanting hepatitis B core antibody (anti-HBc)-positive (+) kidneys and strategies to minimize the risks to the recipient. In the United States, there is a shortage of kidneys available for transplantation. Presently, 4% of kidneys transplanted are anti-HBc (+).
View Article and Find Full Text PDFBackground: Renal transplant recipients may have comorbidities requiring anticoagulation or antiplatelet therapy. While the effects of warfarin may be neutralized with plasma infusion, those of aspirin and clopidogrel are not easily reversible and may be associated with an increased risk of bleeding. We conducted this study to evaluate the risk of bleeding complications in patients receiving perioperative anticoagulation or antiplatelet therapy.
View Article and Find Full Text PDFRenal transplantation is an effective treatment for patients with end-stage renal disease. Unfortunately, the number of patients waiting for transplantation greatly exceeds the number of suitable organs. Use of live kidney donors can increase the donor pool.
View Article and Find Full Text PDFCecal volvulus is a rare cause of bowel obstruction that carries a high mortality. Recent surgery is known to be a risk factor for the development of cecal volvulus. We present a case of cecal volvulus following laparoscopic nephrectomy and renal transplantation.
View Article and Find Full Text PDFPercutaneous renal biopsy is a convenient method to obtain allograft tissue for histologic evaluation. Vascular complications, such as arteriovenous (AV) fistula and pseudoaneurysm, following renal biopsy are well known, and they usually resolve without further intervention. When symptomatic, they should be treated.
View Article and Find Full Text PDFMetamerism is a phenomenon where two or more colored items with different colorant chemistries appear to the observer to be the same color. Those differences should result in different UV-visible spectra. Additionally, the literature on color science states that metameric samples will have spectra that intersect at three or more loci.
View Article and Find Full Text PDFBackground: Liver transplantation is the best treatment option for endstage liver disease. The human T-cell lymphotrophic virus (HTLV) has been associated with leukemia/lymphoma and progressive neurologic disease. There has, however, been an increased utilization of HTLV (+) grafts with little data available to support or discourage their use.
View Article and Find Full Text PDFPortal hypertension resulting from cirrhosis was one of the biggest challenges faced by general surgeons up until the past two decades. The management of portal hypertensive variceal hemorrhage has undergone dramatic changes during this period. Endoscopic variceal ligation and transjugular intrahepatic portosystemic shunts are currently used with great success.
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