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IRCCS Ca 'Granda Foundation Maggiore Po... Publications | LitMetric

127 results match your criteria: "IRCCS Ca 'Granda Foundation Maggiore Policlinico Hospital[Affiliation]"

Therapeutic Gene Editing for Hemoglobinopathies.

Mediterr J Hematol Infect Dis

September 2024

Department of Clinical Sciences and Community, University of Milan, IRCCS Ca' Granda Foundation Maggiore Policlinico Hospital, Milan, Italy.

In the last ten years, a consistent number of clinical studies have evaluated different gene approaches for the treatment of patients with sickle cell disease (SCD) and transfusion-dependent β-thalassemia (TDT). Initial studies of gene therapy for hemoglobinopathies involved the use of lentiviral vectors to add functional copies of the gene encoding β-globin in defective CD34 cells; more recently, gene editing techniques have been used involving either CRISPR-Cas9, transcription activation-like effector protein nuclease, zinc finger nuclease, and base editing to either induce fetal hemoglobin production at therapeutic levels or to genetically repair the underlying molecular defect causing the disease. Here, we review recent gene editing studies that have started the development of a new era in the treatment of hemoglobinopathies and, in general, monoallelic hereditary diseases.

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Corrigendum: Impact of hyperparathyroidism and its different subtypes on long term graft outcome: a single Transplant Center cohort study.

Front Med (Lausanne)

January 2024

Unit of Nephrology, Dialysis and Kidney Transplantation, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy.

[This corrects the article DOI: 10.3389/fmed.2023.

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Adherence to the Mediterranean-DASH Intervention for Neurodegenerative Delay (MIND) diet and exposure to selenium species: A cross-sectional study.

Nutr Res

February 2024

CREAGEN - Environmental, Genetic and Nutritional Epidemiology Research Center, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy; Department of Epidemiology, Boston University School of Public Health, Boston, MA, USA. Electronic address:

Selenium is a trace element found in many chemical forms. Selenium and its species have nutritional and toxicologic properties, some of which may play a role in the etiology of neurological disease. We hypothesized that adherence to the Mediterranean-Dietary Approach to Stop Hypertension Intervention for Neurodegenerative Delay (MIND) diet could influence intake and endogenous concentrations of selenium and selenium species, thus contributing to the beneficial effects of this dietary pattern.

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Background: Peritoneal dialysis (PD) continues to be demanding for patients affected by kidney failure. In kidney failure patients with residual kidney function, the employment of incremental PD, a less onerous dialytic prescription, could translate into a decrease burden on both health systems and patients.

Methods: Between 1st January 2009 and 31st December 2021, 182 patients who started continuous ambulatory peritoneal dialysis (CAPD) at our institution were included in the study.

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Influence of dietary patterns on urinary excretion of cadmium in an Italian population: A cross-sectional study.

J Trace Elem Med Biol

December 2023

CREAGEN - Environmental, Genetic and Nutritional Epidemiology Research Center, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy; School of Public Health, University of California Berkeley, Berkeley, CA, USA. Electronic address:

Introduction: Cadmium is a toxic heavy metal with detrimental effects on human health. Apart from smoking and occupational factors, diet is the main source of cadmium. However, the relation between adherence to so-called "healthy" dietary patterns and cadmium exposure has not been investigated in detail.

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Impact of hyperparathyroidism and its different subtypes on long term graft outcome: a single Transplant Center cohort study.

Front Med (Lausanne)

August 2023

Unit of Nephrology, Dialysis and Kidney Transplantation, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy.

Purpose: We studied the association between parathormone (PTH) levels and long-term graft loss in RTx patients (RTx-p).

Methods: We retrospectively evaluated 871 RTx-p, transplanted in our unit from Jan-2004 to Dec-2020 assessing renal function and mineral metabolism parameters at 1, 6, and 12 months after RTx. Graft loss and death with functioning graft during follow-up (FU, 8.

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In recent years, there has been growing interest in exploring alternative and innovative delivery systems to improve the efficacy of iron supplements, satisfying iron needs and lowering side effects. To address this issue, this study aimed at demonstrating the advantages of Ferro Supremo formulation (composed of encapsulated iron, vitamins, and micronutrients), in terms of capacity to improve iron intestinal absorption, in comparison with standard FeSO. Hence, differentiated Caco-2 cells have been used for assessing the in vitro bioavailability and safety of FS and FeSO.

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Article Synopsis
  • The study focuses on RNA polymerase II (RNA Pol II) pausing, which is important for gene regulation but difficult to study due to the essential nature of pause-release factors.
  • Researchers found mutations in the SUPT5H gene linked to β-thalassemia that disrupt RNA Pol II's pause release during the transition from progenitor to precursor cells in erythropoiesis (red blood cell formation).
  • These mutations led to delayed differentiation and altered gene expression in erythroid cells, highlighting RNA Pol II pausing's role in coordinating cell cycle progression and differentiation in blood cell development.
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Article Synopsis
  • The study investigates the role of paused RNA polymerase II (Pol II) in gene regulation, particularly in the context of β-thalassemia and its effects on erythropoiesis (red blood cell formation).
  • Researchers found mutations in the SPT5 gene that disrupt the proper release of paused Pol II, leading to delays in the transition from progenitor to precursor cells in healthy human cells.
  • Despite these delays in gene expression and the cell cycle during differentiation, the cells eventually reach terminal differentiation, indicating that Pol II pausing plays a critical role in synchronizing the processes of proliferation and differentiation.
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Background: The present study aimed to determine whether patients with mild cognitive impairment (MCI) and dementia due to Alzheimer's disease (AD), semantic verbal fluency (SVF), and the semantic-phonemic discrepancy (SPD) could predict abnormal cerebrospinal fluid (CSF) phosphorylated tau (P-tau) and total tau (T-tau) levels.

Methods: Phonemic verbal fluency (PVF) and SVF scores of N = 116 Aβ-positive patients with either MCI due to AD (N = 39) or probable AD dementia (ADD; N = 77) were retrospectively collected. The SPD was computed by subtracting PVF scores from SVF ones (positive and negative values corresponding to a semantic and phonemic advantage, respectively).

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Selenium exposure and urinary 8-oxo-7,8-dihydro-2'-deoxyguanosine: Major effects of chemical species and sex.

Sci Total Environ

April 2023

CREAGEN - Environmental, Genetic and Nutritional Epidemiology Research Center, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy; Department of Epidemiology, Boston University School of Public Health, Boston, MA, USA. Electronic address:

Selenium is an element present in trace amounts and different chemical forms. It may exert both beneficial and adverse effects on cellular redox status and on the generation of reactive oxygen species. 8-oxo-7,8-dihydro-2'deoxyguanosine (8-oxodG) is an oxidized derivative of deoxyguanosine, and a sensitive biomarker of oxidative stress and genotoxicity.

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Objective During the induction of gaseous anaesthesia, waste anaesthetic gases (WAGs) can be released into workplace air. Occupational exposure to high levels of halogenated WAGs may lead to adverse health effects; hence, it is important to measure WAGs concentration levels to perform risk assessment and for health protection purposes. Methods A systematic review of the scientific literature was conducted on two different scientific databases (Scopus and PubMed).

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