A5012707179- Hemoglobinopathies and Related Disorders
- Neonatal Health and Biochemistry
- RNA modifications and cancer
- Neurogenetic and Muscular Disorders Research
- Trauma, Hemostasis, Coagulopathy, Resuscitation
- Migraine and Headache Studies
- Ion channel regulation and function
- RNA Interference and Gene Delivery
- Neuroscience of respiration and sleep
- Cardiac Arrest and Resuscitation
- Genomics and Rare Diseases
- Trauma and Emergency Care Studies
- Cancer-related molecular mechanisms research
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Erythrocyte Function and Pathophysiology
- Pancreatic function and diabetes
- Genetics and Neurodevelopmental Disorders
- RNA Research and Splicing
- Extracellular vesicles in disease
- COVID-19 Impact on Reproduction
- Congenital Anomalies and Fetal Surgery
- Genomic variations and chromosomal abnormalities
- Immune Cell Function and Interaction
- Neonatal Respiratory Health Research
- Blood groups and transfusion
Agostino Gemelli University Polyclinic
2024
Università Cattolica del Sacro Cuore
2013-2024
University of the Sacred Heart
2022
Pontifícia Universidade Católica de São Paulo
2022
Center for Genomic Science
2020
Policlinico Umberto I
2014
Glioblastoma (GBM) stemlike cells (GSCs) are thought to be responsible for the maintenance and aggressiveness of GBM, most common primary brain tumor in adults. This study aims at elucidating involvement deregulations within imprinted delta-like homolog 1 gene‒type III iodothyronine deiodinase gene (DLK-DIO3) region on chromosome 14q32 GBM pathogenesis.Real-time PCR analyses were performed GSCs tissues. Methylation analyses, expression, reverse-phase protein array profiles used investigate...
Background Spinal muscular atrophy (SMA) is due to the homozygous absence of SMN1 in around 97% patients, independent severity (classically ranked into types I–III). The high genetic homogeneity, coupled with excellent results presymptomatic treatments patients each three disease-modifying therapies available, makes SMA one golden candidates newborn screening (NBS) (SMA-NBS). implementation NBS national programmes occurring some countries an arising new issue that scientific community has...
<b><i>Background:</i></b> Preterm infants often receive blood transfusions early in life. In this setting, umbilical cord (UCB) might be safer than adult (A) with respect to infectious and immunologic threats. <b><i>Objectives:</i></b> To evaluate, as a first objective, the feasibility of fulfilling transfusion needs preterm allogeneic UCB red cell (RBC) concentrates and, secondary assess safety transfusions....
Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by the degeneration of second motor neuron. The phenotype ranges from very severe to mild forms. All patients have homozygous loss SMN1 gene and variable number SMN2 (generally 2-4 copies), inversely related severity. amazing results available treatments made compelling need prognostic biomarkers predict progression trajectories patients. Besides products, few other been evaluated so far, including some miRs.We performed...
We retrospectively investigated the incidence and risk factors for transfusion-related acute lung injury (TRALI) among patients transfused post-partum hemorrhage (PPH).We identified a series of 71 consecutive with PPH requiring urgent transfusion three or more red blood cell (RBC) units, without fresh frozen plasma (FFP) and/or platelets (PLT). Clinical records were then retrieved examined respiratory distress events. According to 2004 consensus definition, cases new-onset hypoxemia, within...
Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection, responsible for Disease 2019 (COVID-19), exhibits a spectrum of clinical manifestations, ranging from asymptomatic to severe pulmonary dysfunction or death. The variability in COVID-19 severity has largely been attributed the host's genetic characteristics, suggesting polygenic architecture, without significant strong evidence sex-related differences. In this Italian retrospective case-control study, we investigated...
Abstract Familial hemiplegic migraine type 2 results from pathogenic variants in the ATP1A2 gene, which encodes for a catalytic subunit of sodium/potassium ATPase. This extremely rare autosomal dominant disorder manifests with spectrum symptoms, most commonly pure phenotype, epilepsy, and/or intellectual disability. In this study, we detail clinical features and genetic analysis nine patients large family spanning four generations, all carrying previously unreported likely variant,...
Fazit Eine Bluttransfusion mit allogenem Erythrozytenkonzentrat aus der Nabelschnur bei Frühgeborenen ist eine praktikable und sichere Option, obwohl in diesem Fall nicht alle notwendigen Transfusionen bedient werden konnten. Um diese neue Transfusionsmethode weiter zu validieren, seien weitere Untersuchungen notwendig, so die Autoren.