Laura Breda
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View article: Pediatric ultrasound on YouTube: a multicenter quality assessment and ten practical recommendations
Pediatric ultrasound on YouTube: a multicenter quality assessment and ten practical recommendations Open
Background: Digital communication is increasingly influencing the way medical knowledge is accessed and shared, particularly in pediatrics. Among various platforms, YouTube has emerged as a major source of health-related information, not o…
View article: Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations
Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations Open
Metachromatic leukodystrophy (MLD) is a fatal lysosomal storage disease characterized by the deficient enzymatic activity of arylsulfatase A (ARSA). Combined autologous hematopoietic stem cell transplantion (HSCT) with lentiviral (LV)-base…
View article: The clinical assessment of lung involvement in patients with Still’s disease, results from the multicentre international AIDA Network Still’s Disease Registry
The clinical assessment of lung involvement in patients with Still’s disease, results from the multicentre international AIDA Network Still’s Disease Registry Open
Objectives To assess the lung involvement in patients with Still’s disease, an inflammatory disease assessing both children and adults. To exploit possible associated factors for parenchymal lung involvement in these patients. Methods A mu…
View article: Skeletal muscle as a pro- and anti-inflammatory tissue: insights from children to adults and ultrasound findings
Skeletal muscle as a pro- and anti-inflammatory tissue: insights from children to adults and ultrasound findings Open
View article: Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations
Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations Open
Metachromatic leukodystrophy (MLD) is a fatal lysosomal storage disease (LSD) characterized by the deficient enzymatic activity of arylsulfatase A (ARSA). Combined autologous hematopoietic stem cell transplant (HSCT) with lentiviral (LV) b…
View article: Quand l’ubiquitination se mêle du mélanome cutané
Quand l’ubiquitination se mêle du mélanome cutané Open
View article: The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases
The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases Open
The activation of the pyrin inflammasome represents a highly intriguing mechanism employed by the innate immune system to effectively counteract pathogenic agents. Despite its key role in innate immunity, pyrin has also garnered significan…
View article: Elevated CDKN1A (P21) mediates β-thalassemia erythroid apoptosis, but its loss does not improve β-thalassemic erythropoiesis
Elevated CDKN1A (P21) mediates β-thalassemia erythroid apoptosis, but its loss does not improve β-thalassemic erythropoiesis Open
β-thalassemias are common hemoglobinopathies due to mutations in the β-globin gene that lead to hemolytic anemias. Premature death of β-thalassemic erythroid precursors results in ineffective erythroid maturation, increased production of e…
View article: In vivo hematopoietic stem cell modification by mRNA delivery
In vivo hematopoietic stem cell modification by mRNA delivery Open
Hematopoietic stem cells (HSCs) are the source of all blood cells over an individual’s lifetime. Diseased HSCs can be replaced with gene-engineered or healthy HSCs through HSC transplantation (HSCT). However, current protocols carry major …
View article: Pain Evaluation and Treatment in Children: A Practical Approach
Pain Evaluation and Treatment in Children: A Practical Approach Open
Pain is the most common complaint reported by children who access the emergency departments, but despite its frequency and the availability of many international guidelines, it often remains underreported and undertreated. Recently, the Am…
View article: P1520: AN ACTIVIN RECEPTOR IIB LIGAND TRAP, IN COMBINATION WITH TMPRSS6 INDUCED IRON-RESTRICTION, IS A SUPERIOR TREATMENT FOR CORRECTING Β-THALASSEMIA IN MICE
P1520: AN ACTIVIN RECEPTOR IIB LIGAND TRAP, IN COMBINATION WITH TMPRSS6 INDUCED IRON-RESTRICTION, IS A SUPERIOR TREATMENT FOR CORRECTING Β-THALASSEMIA IN MICE Open
Background: The hallmarks of β-thalassemia (BT) include ineffective erythropoiesis (IE), splenomegaly and iron overload (IO). There are several new promising therapetutics to treat BT under clinical investigation. One strategy employs iron…
View article: P1521: A SEVERE MOUSE MODEL OF ALPHA-THALASSEMIA SHOWS ABNORMAL IRON METABOLISM, ERYTHROPOIESIS AND COAGULATION, AND CAN BE RESCUED BY A NOVEL GENE THERAPY APPROACH
P1521: A SEVERE MOUSE MODEL OF ALPHA-THALASSEMIA SHOWS ABNORMAL IRON METABOLISM, ERYTHROPOIESIS AND COAGULATION, AND CAN BE RESCUED BY A NOVEL GENE THERAPY APPROACH Open
Background: Clinical presentation of deletional a-thal varies from an asymptomatic condition (one inactivated a-globin gene) to a complete knockout (Hb Bart’s Hydrops Fetalis). In patients with severe a-thal, a blood transfusion independen…
View article: S104: A SEVERE MOUSE MODEL OF ALPHA-THALASSEMIA SHOWS ABNORMAL IRON METABOLISM, ERYTHROPOIESIS AND COAGULATION, AND CAN BE RESCUED BY A NOVEL GENE THERAPY APPROACH
S104: A SEVERE MOUSE MODEL OF ALPHA-THALASSEMIA SHOWS ABNORMAL IRON METABOLISM, ERYTHROPOIESIS AND COAGULATION, AND CAN BE RESCUED BY A NOVEL GENE THERAPY APPROACH Open
Background: Clinical presentation of deletional a-thal varies from an asymptomatic condition (one inactivated a-globin gene) to a complete knockout (Hb Bart’s Hydrops Fetalis). In patients with severe a-thal, a blood transfusion independen…
View article: S101: COMBINATION OF A LUSPATERCEPT-LIKE DRUG (RAP-GRL) AND TMPRSS6-ASO IS SUPERIOR TO EITHER DRUG ALONE FOR CORRECTING β-THALASSEMIA
S101: COMBINATION OF A LUSPATERCEPT-LIKE DRUG (RAP-GRL) AND TMPRSS6-ASO IS SUPERIOR TO EITHER DRUG ALONE FOR CORRECTING β-THALASSEMIA Open
The hallmarks of β-thalassemia (BT) include ineffective erythropoiesis (IE), splenomegaly and iron overload (IO). Recent studies have pointed to iron restriction (IR) to improve both anemia and IO in BT (Rivella, 2019). The decrease of iro…
View article: Inclusion of a short hairpin RNA targeting <i>BCL11A</i> into a β-globin expressing vector allows concurrent synthesis of curative adult and fetal hemoglobin
Inclusion of a short hairpin RNA targeting <i>BCL11A</i> into a β-globin expressing vector allows concurrent synthesis of curative adult and fetal hemoglobin Open
Inclusion of a short hairpin RNA targeting BCL11A into a β-globin expressing vector allows concurrent synthesis of curative adult and fetal hemoglobin Addition of a functional copy of the β-globin gene and reactivation of fetal hemoglobin …
View article: Lentiviral vector ALS20 yields high hemoglobin levels with low genomic integrations for treatment of beta-globinopathies
Lentiviral vector ALS20 yields high hemoglobin levels with low genomic integrations for treatment of beta-globinopathies Open
View article: 2'-O-methoxyethyl splice-switching oligos correct splicing from IVS2-745 β-thalassemia patient cells restoring HbA production and chain rebalance
2'-O-methoxyethyl splice-switching oligos correct splicing from IVS2-745 β-thalassemia patient cells restoring HbA production and chain rebalance Open
β-thalassemia is a disorder caused by altered hemoglobin protein synthesis and affects individuals worldwide. Severe forms of the disease, left untreated, can result in death before the age of 3 years (1). The standard of care consists of …
View article: CURING HEMOGLOBINOPATHIES: CHALLENGES AND ADVANCES OF CONVENTIONAL AND NEW GENE THERAPY APPROACHES.
CURING HEMOGLOBINOPATHIES: CHALLENGES AND ADVANCES OF CONVENTIONAL AND NEW GENE THERAPY APPROACHES. Open
Inherited hemoglobin disorders, including beta-thalassemia (BT) and sickle-cell disease (SCD) are the most common monogenic diseases worldwide, with a global carrier frequency of over 5%. With migration they are becoming more common worldw…
View article: Lack of Gdf11 does not improve anemia or prevent the activity of RAP-536 in a mouse model of β-thalassemia
Lack of Gdf11 does not improve anemia or prevent the activity of RAP-536 in a mouse model of β-thalassemia Open
There is a Blood Commentary on this article in this issue.
View article: Autoimmune sensorineural hearing loss as presenting manifestation of paediatric Behçet disease responding to adalimumab: a case report
Autoimmune sensorineural hearing loss as presenting manifestation of paediatric Behçet disease responding to adalimumab: a case report Open
This case report points out to the diagnostic and therapeutic challenges of BD especially when unusual symptoms are the prominent manifestations of the disease. It also suggests that adalimumab is a good therapeutic option in children with…
View article: A validated cellular biobank for β-thalassemia
A validated cellular biobank for β-thalassemia Open
View article: Forced chromatin looping raises fetal hemoglobin in adult sickle cells to higher levels than pharmacologic inducers
Forced chromatin looping raises fetal hemoglobin in adult sickle cells to higher levels than pharmacologic inducers Open
Key Points Ldb1 transcription factor self-association domain fused to γ-globin promoter-specific ZF protein increases HbF, reduces HbS in hSCD cells. In vitro reactivation of HbF mediated by ZF-Ldb1 exceeds pharmacologic treatment in adult…
View article: Recent trends in the gene therapy of β-thalassemia
Recent trends in the gene therapy of β-thalassemia Open
Alessia Finotti,1–3 Laura Breda,4 Carsten W Lederer,6,7 Nicoletta Bianchi,1–3 Cristina Zuccato,1–3 Marina Kleanthous,6,7 Stefano Rivella,4,5 Roberto Gambari1–3 1Laboratory for the Development of Gene and Pharmacogenomic Therapy of Thalassa…
View article: Recent trends in the gene therapy of &beta;-thalassemia
Recent trends in the gene therapy of β-thalassemia Open
The β-thalassemias are a group of hereditary hematological diseases caused by over 300 mutations of the adult β-globin gene. Together with sickle cell anemia, thalassemia syndromes are among the most impactful diseases in developing countr…
View article: Generation and Characterization of a Transgenic Mouse Carrying a Functional Human<b><i>β</i></b>-Globin Gene with the IVSI-6 Thalassemia Mutation
Generation and Characterization of a Transgenic Mouse Carrying a Functional Human<b><i>β</i></b>-Globin Gene with the IVSI-6 Thalassemia Mutation Open
Mouse models that carry mutations causing thalassemia represent a suitable tool to test in vivo new mutation-specific therapeutic approaches. Transgenic mice carrying the β -globin IVSI-6 mutation (the most frequent in Middle-Eastern regio…