Francesco Scolari
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View article: A Snapshot from the Italian Clinical Practice Regarding Efficacy and Utility Rate of Perioperative Chemotherapy in Muscle-invasive Bladder Cancer: The RealBLADDER Study
A Snapshot from the Italian Clinical Practice Regarding Efficacy and Utility Rate of Perioperative Chemotherapy in Muscle-invasive Bladder Cancer: The RealBLADDER Study Open
NAC is associated with an improved DFS compared to AC, a high rate of NID and pCR and low rate of surgical morbidity and mortality, supporting NAC as the preferred perioperative strategy for MIBC in clinical practice.
View article: #623 SGLT2 inhibitors in adult patients with Alport syndrome: a single center Italian experience
#623 SGLT2 inhibitors in adult patients with Alport syndrome: a single center Italian experience Open
Background and Aims Alport syndrome (AS) is the most common inherited glomerular disease, caused by pathogenic variants in COL4A3, COL4A4, and COL4A5 genes, leading to distinct inheritance patterns. Structural disruption of glomerular base…
View article: Tolvaptan in Autosomal Dominant Polycystic Kidney Disease (ADPKD): a multicenter real life Italian experience
Tolvaptan in Autosomal Dominant Polycystic Kidney Disease (ADPKD): a multicenter real life Italian experience Open
Background Tolvaptan is the only disease-modifying treatment approved to slow kidney disease progression in autosomal dominant polycystic kidney disease (ADPKD). Data on tolvaptan in ADPKD outside of clinical trials are limited, usually de…
View article: Nephrectomy in autosomal dominant polycystic kidney disease: a consensus statement of the ERA Genes & Kidney Working Group
Nephrectomy in autosomal dominant polycystic kidney disease: a consensus statement of the ERA Genes & Kidney Working Group Open
A substantial number of patients with autosomal dominant polycystic kidney disease (ADPKD) undergo a nephrectomy, especially in workup for a kidney transplantation. Currently, there is no evidence-based algorithm to guide clinicians about …
View article: Exome-wide analysis of congenital kidney anomalies reveals new genes and shared architecture with developmental disorders
Exome-wide analysis of congenital kidney anomalies reveals new genes and shared architecture with developmental disorders Open
Kidney anomalies (KA) are developmental disorders that commonly cause pediatric chronic kidney disease and mortality. We examined rare coding variants in 248 KA trios and 1,742 singleton KA cases and compared them to 22,258 controls. Diagn…
View article: Genome-wide studies define new genetic mechanisms of IgA vasculitis
Genome-wide studies define new genetic mechanisms of IgA vasculitis Open
IgA vasculitis (IgAV) is a pediatric disease with skin and systemic manifestations. Here, we conducted genome, transcriptome, and proteome-wide association studies in 2,170 IgAV cases and 5,928 controls, generated IgAV-specific maps of gen…
View article: VExUS score improvement is associated with better outcomes in acute decompensated heart failure
VExUS score improvement is associated with better outcomes in acute decompensated heart failure Open
Background Venous Excess Ultrasound Score (VExUS) has recently emerged as a non-invasive tool for venous congestion assessment in acute decompensated heart failure (ADHF). Although VExUS is associated with cardiorenal syndrome, the prognos…
View article: Clinical Significance of the Cystic Phenotype in Alport Syndrome
Clinical Significance of the Cystic Phenotype in Alport Syndrome Open
Hematuria is the classic renal presentation of Alport syndrome (AS), a hereditary glomerulopathy caused by pathogenic variants of the COL4A3-5 genes. An atypical kidney cystic phenotype has been rarely reported in individuals with these va…
View article: Monoallelic pathogenic <i>IFT140</i> variants are a common cause of autosomal dominant polycystic kidney disease–spectrum phenotype
Monoallelic pathogenic <i>IFT140</i> variants are a common cause of autosomal dominant polycystic kidney disease–spectrum phenotype Open
Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder, characterized by development and enlargement of kidney cysts, eventually leading to end-stage kidney disease (ESKD). Pathogenic v…
View article: Sustained post-rituximab B-cell depletion is common in ANCA-associated vasculitis and is affected by sex and renal function
Sustained post-rituximab B-cell depletion is common in ANCA-associated vasculitis and is affected by sex and renal function Open
Objective Despite the increasing use of rituximab in anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), it remains unclear what the optimal dosing is, especially for maintenance of remission. A deeper understanding of…
View article: #5542 THE ITALIAN REGISTRY OF POLYCYSTIC KIDNEY DISEASE (RIRP): DESIGN, PATIENT CHARACTERISTICS AND INITIAL RESULTS
#5542 THE ITALIAN REGISTRY OF POLYCYSTIC KIDNEY DISEASE (RIRP): DESIGN, PATIENT CHARACTERISTICS AND INITIAL RESULTS Open
Background and Aims ADPKD is the most common form of inherited renal disease worldwide. ADPKD care has advanced over the past decade by the identification of several clinical/genetic risk factors of progression and approval of first diseas…
View article: #6036 CYSTIC KIDNEY PHENOTYPE IS A FREQUENT, AGE- AND EGFR- DEPENDENT FINDING IN ALPORT SYNDROME
#6036 CYSTIC KIDNEY PHENOTYPE IS A FREQUENT, AGE- AND EGFR- DEPENDENT FINDING IN ALPORT SYNDROME Open
Background and Aims Alport Syndrome (AS), the most common genetic glomerular disease, due to pathogenic variants in COL4A3-COL4A5 genes, includes three main forms: X-linked AS (XLAS, COL4A5); autosomal recessive (ARAS, biallelic pathogenic…
View article: #6292 PSYCHOLOGICAL CHALLENGES OF THE PATIENT STARTING PERITONEAL DIALYSIS
#6292 PSYCHOLOGICAL CHALLENGES OF THE PATIENT STARTING PERITONEAL DIALYSIS Open
Background and Aims The start of peritoneal dialysis (PD) in patients affected by end stage renal disease (ESRD) may have a significant psychological impact. Aim of this study was to assess the most frequent reasons triggering the request …
View article: #4215 MONOALLELIC IFT140-RELATED POLYCYSTIC KIDNEY DISEASE IN AN ITALIAN ADPKD COHORT
#4215 MONOALLELIC IFT140-RELATED POLYCYSTIC KIDNEY DISEASE IN AN ITALIAN ADPKD COHORT Open
Background and Aims Autosomal-dominant polycystic kidney disease (ADPKD) is the most common inherited renal disorder characterized by progressive bilateral renal cysts development and extrarenal phenotype, i.e. liver and/or pancreatic cyst…
View article: #4183 A PHENOTYPIC DRIVEN RITUXIMAB MAINTENANCE APPROACH IS EFFECTIVE AND SAFE IN PATIENTS WITH ANCA ASSOCIATED VASCULITIS
#4183 A PHENOTYPIC DRIVEN RITUXIMAB MAINTENANCE APPROACH IS EFFECTIVE AND SAFE IN PATIENTS WITH ANCA ASSOCIATED VASCULITIS Open
Background and Aims Rituximab (RTX) has emerged as the first-line treatment to maintain remission in ANCA-Associated Vasculitis (AAV). However, the ideal strategy to RTX re-dosing is still unclear [1]. Method In this monocentric and retros…
View article: Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease
Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease Open
Autosomal dominant tubulointerstitial kidney disease (ADTKD), a rare genetic disorder characterised by progressive chronic kidney disease, is caused by mutations in different genes, including REN, encoding renin. Renin is a secreted protea…
View article: The place of cyclical therapy for the treatment of membranous nephropathy in the era of rituximab
The place of cyclical therapy for the treatment of membranous nephropathy in the era of rituximab Open
Primary membranous nephropathy (MN) is the most frequent cause of nephrotic syndrome in adults, due to a variety of autoantibodies, most frequently against phospholipase A2 receptor (PLA2R). In severe cases or when spontaneous remission is…
View article: Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis Open
Significance Statement Congenital obstructive uropathy (COU) is a prevalent human developmental defect with highly heterogeneous clinical presentations and outcomes. Genetics may refine diagnosis, prognosis, and treatment, but the genomic …
View article: Lung ultrasound predicts left-sided filling pressures in patients with cardiogenic shock admitted to the cardiac intensive care unit
Lung ultrasound predicts left-sided filling pressures in patients with cardiogenic shock admitted to the cardiac intensive care unit Open
Background Left and right filling pressures, as well as cardiac output, are key targets in optimising treatment of cardiogenic shock (CS). Invasive pulmonary artery catheters can provide these data but are associated with complications and…
View article: Non-invasive assessment of right ventricular function and pulmonary pressures in cardiogenic shock remains challenging: don't pack away the PAC just yet
Non-invasive assessment of right ventricular function and pulmonary pressures in cardiogenic shock remains challenging: don't pack away the PAC just yet Open
Background Cardiogenic shock (CS) is associated with high levels of morbidity and mortality despite advances in treatment. Patients with right ventricle (RV) dysfunction have been shown to have poorer outcomes. It is suggested that invasiv…
View article: Echocardiographic assessment alone is inadequate for determining elevated left sided filling pressures in patients with cardiogenic shock
Echocardiographic assessment alone is inadequate for determining elevated left sided filling pressures in patients with cardiogenic shock Open
Background Left atrial (LA) filling pressure assessment is of paramount importance in tailoring treatments for patients with cardiogenic shock (CS). ESC guidelines advocate for the use of mitral inflow Doppler and mitral annulus tissue Dop…
View article: Multi-population genome-wide association study implicates both immune and non-immune factors in the etiology of pediatric steroid sensitive nephrotic syndrome
Multi-population genome-wide association study implicates both immune and non-immune factors in the etiology of pediatric steroid sensitive nephrotic syndrome Open
Pediatric steroid-sensitive nephrotic syndrome (pSSNS) is the most common childhood glomerular disease. Previous genome-wide association studies (GWAS) identified a risk locus in the HLA Class II region and three additional signals. But th…
View article: Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD
Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD Open
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare inherited disorder characterized by progressive loss of kidney function, nonsignificant urinalysis and tubulointerstitial fibrosis. ADTKD progresses to end stage renal …
View article: The Role of Rituximab in Primary Focal Segmental Glomerular Sclerosis of the Adult
The Role of Rituximab in Primary Focal Segmental Glomerular Sclerosis of the Adult Open
RTX may be an option in primary FSGS, especially in steroid-dependent patients, with 24-hour proteinuria <5 g and previously responders to RTX. Optimal long-term management for responders is unclear, with some patients experiencing sustain…