A5034735571- Prenatal Screening and Diagnostics
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Advanced biosensing and bioanalysis techniques
- Extracellular vesicles in disease
- Pregnancy and preeclampsia studies
- Parvovirus B19 Infection Studies
- Lipid Membrane Structure and Behavior
- Genetic factors in colorectal cancer
- Birth, Development, and Health
- Fetal and Pediatric Neurological Disorders
- Hemoglobinopathies and Related Disorders
- Retinal Diseases and Treatments
- Renal and related cancers
- SARS-CoV-2 and COVID-19 Research
- Colorectal Cancer Treatments and Studies
- SARS-CoV-2 detection and testing
- Acute Myeloid Leukemia Research
- Genomics and Rare Diseases
- Muscle Physiology and Disorders
- Retinal Development and Disorders
- Molecular Biology Techniques and Applications
- Cell Adhesion Molecules Research
- Hematopoietic Stem Cell Transplantation
- COVID-19 Impact on Reproduction
Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
2014-2024
Vita-Salute San Raffaele University
2014-2024
IRCCS Ospedale San Raffaele
2003-2023
Istituti di Ricovero e Cura a Carattere Scientifico
2003-2022
San Raffaele University of Rome
2014-2020
Center for Genomic Science
2010-2014
Weatherford College
2012
Fondazione IRCCS Istituto Neurologico Carlo Besta
1999-2000
In late 2019, the betacoronavirus SARS-CoV-2 was identified as viral agent responsible for coronavirus disease 2019 (COVID-19) pandemic. Coronaviruses Spike proteins are their ability to interact with host membrane receptors and different have been interactors, among which Angiotensin-converting enzyme 2 (ACE2), Basigin2/EMMPRIN/CD147 (CD147). CD147 plays an important role in human immunodeficiency virus type 1, hepatitis C virus, B Kaposi’s sarcoma-associated herpesvirus, severe acute...
ABSTRACT Small extracellular vesicles (sEVs) present fairly distinctive lipid membrane features in the environment. These include high curvature, lipid‐packing defects and a relative abundance lipids such as phosphatidylserine ceramide. sEV could be then considered “universal” marker, alternative or complementary to traditional, characteristic, surface‐associated proteins. Here, we introduce use of membrane‐sensing peptides new, highly efficient ligands directly integrate capturing analysis...
Abstract Objective Cell free foetal DNA (cff DNA) extracted from maternal plasma is now recognized as a potential source for prenatal diagnosis but the methodology currently not well standardized. To evaluate different manual and automated extraction methods with view to developing standards, an International Workshop was performed. Methods Three pools RhD‐negative pregnant women, standard, real‐time‐PCR protocol, primers probes RHD were sent 12 laboratories also one company (Qiagen, Hilden,...
This study tested the claim that digital PCR (dPCR) can offer highly reproducible quantitative measurements in disparate laboratories. Twenty-one laboratories measured four blinded samples containing different quantities of a KRAS fragment encoding G12D, an important genetic marker for guiding therapy certain cancers. is challenging to quantify reproducibly using (qPCR) or next generation sequencing (NGS) due presence competing wild type sequences and need calibration. Using dPCR, 18 were...
Abstract Heteroresistance - the simultaneous presence of drug-susceptible and -resistant organisms is common in Mycobacterium tuberculosis . In this study, we aimed to determine limit detection (LOD) genotypic assays detect gatifloxacin-resistant mutants experimentally mixed populations. A fluoroquinolone-susceptible M. mother strain (S) its vitro selected resistant daughter harbouring D94G mutation gyrA (R) were at different ratio’s. Minimum inhibitory concentrations (MICs) against...
In December 2019, a new severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) started spreading worldwide causing the disease 2019 (COVID-19) pandemic. The hyperactivation of immune system has been proposed to account for severity and death in COVID-19 patients. Despite several approaches having tested, no therapeutic protocol approved. Given that Cyclosporine A (CsA) is well-known exert strong antiviral activity on viral strains an anti-inflammatory role different organs with...
Idiopathic inflammatory myopathies (IIM) are muscle diseases of autoimmune pathogenesis characterized by mononuclear cell infiltration within tissue. Since immune homing and accumulation at the site antigenic challenge is usually mediated chemokines, we evaluated expression 2 beta-chemokines--monocyte chemoattractant protein-1 (MCP-1) macrophage protein-1alpha (MIP-1alpha)--by immunohistochemistry polymerase chain reaction in muscles polymyositis, inclusion body myositis, dermatomyositis...
The analysis of circulating cell free DNA is an important tool for the tumor resistance, heterogeneity, detection minimal residual disease and allograft rejection in kidney or heart transplant patients. proper use this technique important, starts with considering pre-analytic aspects. current paper addresses some technical considerations to ensure harmonized cfDNA techniques.
<h3>Background</h3> Until now, non-invasive prenatal diagnosis of genetic diseases found only limited routine applications. In autosomal recessive diseases, it can be used to determine the carrier status fetus through detection a paternally inherited disease allele in cases where maternal and paternal mutated alleles differ. <h3>Methods</h3> Conditions for identification fetal mutations plasma were developed by two independent approaches: coamplification at lower denaturation temperature-PCR...
Abstract Objectives To evaluate whether intrauterine growth restriction (IUGR) as seen in preeclampsia is associated with high levels of fetal DNA maternal circulation, and related to altered uterine and/or umbilical artery Doppler velocimetry. Methods Fetal quantification was performed by real‐time PCR on SRY sequences 64 male‐bearing pregnant women IUGR 89 controls. Results content significantly elevated pregnancies similar correlated velocimetry, while no correlation found status....
Introduction Urothelial Bladder Cancer (BC) is the ninth most common cancer worldwide. It classified into Non Muscle Invasive (NMIBC) and (MIBC), which are characterized by frequent recurrences progression rate, respectively. The diagnosis monitoring obtained through invasive methods as cystoscopy post-surgery biopsies. Thus, a panel of biomarkers able to discriminate BC based on grading or staging represents significant step forward in patients’ workup. In this perspective, long non-coding...
Diabetic retinopathy is a complication of diabetes characterized by an extremely low rate progression. It takes several years to move from the onset diabetes, both type 1 and 2, development retinal microaneurysms, then leading proliferative diabetic vision loss. The recent demonstration that microaneurysms are preceded and, possibly, caused subclinical neurodegeneration mainly affecting neurovascular unit has suggested, on one hand, possible existence previously unknown early...
The presence of fetal DNA in maternal plasma can be exploited to develop new procedures for non-invasive prenatal diagnosis. Tests detect 7 frequent beta-globin gene mutations people Mediterranean origin were applied the analysis couples where parents carried different mutations. A mutant enrichment amplification protocol was optimized by using peptide nucleic acids (PNAs) clamp wild-type alleles. By this approach, 41 diagnoses performed microelectronic microchip analysis, with total...
A new coronavirus (SARS-CoV-2) caused the current disease (Covid-19) epidemic. Reverse transcription-quantitative polymerase chain reaction (RT-qPCR) is used as gold standard for clinical detection of SARS-CoV-2. Under ideal conditions, RT-qPCR Covid-19 assays have analytical sensitivity and specificity greater than 95%. However, when sample panel enlarged including asymptomatic individuals, decreases false negatives are reported. Moreover, requires up to 3–6 h with most time involved in RNA...
Abstract Objective To quantitatively measure male DNA in blood from women with systemic sclerosis (SSc) and controls to evaluate vitro the modulation of microchimeric cell population size following immunologic stimuli that were expected trigger antigen‐specific T cells. Methods A real‐time polymerase chain reaction for a Y chromosome sequence was used SSc who gave birth sons. The change measured stimuli, which Results Cellular microchimerism found patients controls, but absolute amount...
Abstract Background: Among markers of pregnancy complications, corticotropin-releasing hormone ( CRH ) mRNA, long pentraxin 3 (PTX3) protein and fetal total DNA had been reported to be increased in the plasma women with overt preeclampsia (PE). We developed an optimized protocol evaluate whether concentrations PTX3 mRNA protein, and/or are growth restriction (FGR), they predict complications pregnancy. Methods: The included a preamplification step enrich rare species. were measured PE or...