A5075629557- Renal Transplantation Outcomes and Treatments
- Transplantation: Methods and Outcomes
- Cancer Genomics and Diagnostics
- Organ Transplantation Techniques and Outcomes
- Genomics and Rare Diseases
- Genetic factors in colorectal cancer
- Cellular transport and secretion
- Complement system in diseases
- Cell Adhesion Molecules Research
- Biomedical Research and Pathophysiology
- Peptidase Inhibition and Analysis
- Genetic and Kidney Cyst Diseases
- Blood groups and transfusion
- Erythrocyte Function and Pathophysiology
- Protein Degradation and Inhibitors
- Viral Infections and Immunology Research
- Cystic Fibrosis Research Advances
- Mechanical Circulatory Support Devices
- Renal Diseases and Glomerulopathies
- Single-cell and spatial transcriptomics
- Polyomavirus and related diseases
- Cancer Mechanisms and Therapy
- Liver Disease and Transplantation
- Metabolism and Genetic Disorders
- Platelet Disorders and Treatments
Azienda Ospedaliera Citta' della Salute e della Scienza di Torino
2024
University of Turin
2020-2024
Circulating cell-free DNA (cfDNA) refers to small fragments of molecules released after programmed cell death and necrosis in several body fluids such as blood, saliva, urine, cerebrospinal fluid. The discovery cfDNA has revolutionized the field non-invasive diagnostics oncologic field, prenatal testing, organ transplantation. Despite potential solid results published recent literature, challenges remain, represented by a low abundance, need for highly sensitive assays, analytical issues. In...
Despite advances in immunosuppression therapy, acute rejection remains the leading cause of graft dysfunction lung transplant recipients. Donor-derived cell-free DNA is increasingly being considered as a valuable biomarker several solid organ transplants. We present technically improved molecular method based on digital PCR that targets mismatch between recipient and donor at HLA-DRB1 locus. Blood samples collected sequentially post-transplantation from cohort recipients were used to obtain...
A considerable minority of patients on waiting lists for kidney transplantation either have no diagnosis (and fall into the subset undiagnosed cases) because biopsy was not performed or histological findings were non-specific, do any well-defined clinical category. Some these might be affected by a previously unrecognised monogenic disease.Through multidisciplinary cooperative effort, we built an analytical pipeline to identify with chronic disease (CKD) suspicion condition without...
Circulating cell-free DNA (cfDNA) refers to small fragments of molecules released after programmed cell death and necrosis in several body fluids such as blood, saliva, urine, cerebrospinal fluid. The discovery cfDNA has revolutionized the field non-invasive diagnostics oncologic field, prenatal testing, organ transplantation. Despite potential solid results published recent literature, challenges remain, represented by low abundance, need for highly sensitive assays analytical issues. In...
Endomyocardial biopsy (EMB) is considered the gold-standard method to diagnose rejection after heart transplantation. However, many disadvantages and potential complications of this test restrict its routine application, particularly in pediatric patients. Donor-derived cell-free DNA (dd-cfDNA), released by transplanted as result cellular injury, emerging a biomarker tissue damage involved ischemia/reperfusion injury posttransplant rejection. In present study, we systematically evaluated...
Liver transplantation (LT) is still limited by organ shortage and post-transplant monitoring issues. While machine perfusion techniques allow for improving preservation, biomarkers like donor-derived cell-free DNA (dd-cfDNA) mitochondrial cfDNA (mt-cfDNA) may provide insights into graft injury viability pre- post-LT.
Hepatocellular adenomas (HAs) are tumors that can develop under different conditions, including in patients harboring a germline mutation HNF1A. However, little is known about the pathogenesis of such disease. This work aims to better define what mechanisms lie development this condition. Six HAs were sampled from liver 17-year-old male affected by diabetes and multiple hepatic adenomatosis heterozygous pathogenic variant c.815G>A, p.(Arg272His) HNF1A, which has dominant negative effect....
Abstract Background and Aims next-generation sequencing (NGS) technologies are becoming a powerful diagnostic tool in precision medicine. Specifically, exome can help the diagnosis of selected diseases, their medical management therapeutic choices. Inherited kidney diseases (IKD) among major causes for failure, both children adults, resulting increased mortality, high health care costs need organ transplantation. In addition, it is worth mentioning that significant proportion patients...
Endomyocardial biopsy (EMB) is considered the gold standard method to diagnose rejection after heart transplantation. However, many disadvantages and potential complications of this test restrict its routine application, particularly in pediatric patients. Donor-derived cell-free DNA (dd-cfDNA) released by transplanted as result cellular injury, emerging a biomarker tissue damage involved ischemia-reperfusion injury post-transplant rejection. In present study, we systematically evaluated...
Abstract Background and Aims Autosomal dominant PKD determines formation of multiple cysts predominantly in the kidneys usually becomes symptomatic during adulthood can lead to renal failure. In contrast, autosomal recessive occur both liver presents an earlier onset. Obtaining genetic diagnosis is important confirm clinical required before treating with vasopressin 2 receptor blockers, which are only drugs known slow down disease. Furthermore, case kidney transplant from a living family...
Abstract Background and Aims 3MC syndrome is an autosomal recessive disorder encompassing a variable spectrum of abnormalities, among which facial dysmorphisms are characteristic. Mutations in genes encode proteins involved the lectin complement pathway MASP1, COLEC11 recently COLEC10 have been identified patients with syndrome, supporting their key role during human development. We present 5 years old patient typical phenotypic characteristics, including blepharophimosis, telecanthus, high...