Eleonora De Martino
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View article: Severe tenosynovitis with rapidly fluctuating power Doppler activity, a clue for the diagnosis of Blau syndrome: a case report
Severe tenosynovitis with rapidly fluctuating power Doppler activity, a clue for the diagnosis of Blau syndrome: a case report Open
Background Blau Syndrome is a rare monogenic disorder characterized by granulomatous polyarthritis, dermatitis, and uveitis. The diagnosis can be challenging as symptoms may not always align with the classic triad. Case description An 8-ye…
View article: Correction: Erythropoietic protoporphyria: case reports for clinical and therapeutic hints
Correction: Erythropoietic protoporphyria: case reports for clinical and therapeutic hints Open
View article: An easy assay to detect autoantibodies neutralizing cytokines in subjects with critical infections
An easy assay to detect autoantibodies neutralizing cytokines in subjects with critical infections Open
Autoantibodies against type I interferon (IFN) are associated with a worse outcome in COVID-19. The measurement of cytokine-neutralizing autoantibodies has been limited, hindering understanding of their role in clinical practice. We showed…
View article: Prevalence of IgG antibodies against Malawi polyomavirus in patients with autoimmune diseases and lymphoproliferative disorders subjected to bone marrow transplantation
Prevalence of IgG antibodies against Malawi polyomavirus in patients with autoimmune diseases and lymphoproliferative disorders subjected to bone marrow transplantation Open
Introduction Human polyomaviruses (HPyVs) cause persistent/latent infections in a large fraction of the population. HPyV infections may cause severe diseases in immunocompromised patients. Malawi polyomavirus (MWPyV) is the 10th discovered…
View article: Erythropoietic protoporphyria: case reports for clinical and therapeutic hints
Erythropoietic protoporphyria: case reports for clinical and therapeutic hints Open
Background Erythropoietic protoporphyria is a rare disorder which represents an important health problem in children, causing painful photosensitivity. Little is known on the correlation between genetic profile and clinical manifestations.…
View article: Efficiency of Recovery of the Bioactive Principles of Plants by Comparison between Solid–Liquid Extraction in Mixture and Single-Vegetable Matrices via Maceration and RSLDE
Efficiency of Recovery of the Bioactive Principles of Plants by Comparison between Solid–Liquid Extraction in Mixture and Single-Vegetable Matrices via Maceration and RSLDE Open
The term “officinal” derives from the Latin and includes all medicinal, aromatic and perfume plant species, which have long been a subject of interest for multiple purposes: health, food, pharmacological, cosmetic and so on. In this work, …
View article: A group of three miRNAs can act as candidate circulating biomarkers in liquid biopsies from melanoma patients
A group of three miRNAs can act as candidate circulating biomarkers in liquid biopsies from melanoma patients Open
Background Staging of melanoma and follow up after melanoma diagnosis aims at predicting risk and detecting progression or recurrence at early stage, respectively in order to timely start and/or change treatment. Tumor thickness according …
View article: An Easy Assay to Detect Auto-Antibodies Neutralizing Cytokines in Subjects with Critical Infections
An Easy Assay to Detect Auto-Antibodies Neutralizing Cytokines in Subjects with Critical Infections Open
View article: Impact of standardization in tissue processing: the performance of different fixatives
Impact of standardization in tissue processing: the performance of different fixatives Open
Most tissues in clinical practice are formalin-fixed and paraffin-embedded for histological as well as molecular analyses. The reproducibility and uniformity of molecular analyses is strictly dependent on the quality of the biomolecules, w…
View article: A Novel HPLC-Based Method to Investigate on RNA after Fixation
A Novel HPLC-Based Method to Investigate on RNA after Fixation Open
RNA isolated from fixed and paraffin-embedded tissues is widely used in biomedical research and molecular pathology for diagnosis. In the present study, we have set-up a method based on high performance liquid chromatography (HPLC) to inve…
View article: The Association of Residential Altitude on the Molecular Profile and Survival of Melanoma: Results of an Interreg Study
The Association of Residential Altitude on the Molecular Profile and Survival of Melanoma: Results of an Interreg Study Open
Cutaneous melanoma (CM) incidence is rising worldwide and is the primary cause of death from skin disease in the Western world. Personal risk factors linked to environmental ultraviolet radiation (UVR) are well-known etiological factors co…
View article: Reliability of miRNA Analysis from Fixed and Paraffin-Embedded Tissues
Reliability of miRNA Analysis from Fixed and Paraffin-Embedded Tissues Open
In clinical practice, patients’ tissues are fixed and paraffin-embedded in order to enable histological diagnosis. Nowadays, those tissues are also used for molecular characterization. Formalin is the most used fixative worldwide, and Boui…
View article: In vitro treatment of congenital disorder of glycosylation type Ia using PLGA nanoparticles loaded with GDP‑Man
In vitro treatment of congenital disorder of glycosylation type Ia using PLGA nanoparticles loaded with GDP‑Man Open
Congenital disorder of glycosylation (CDG) type Ia is a multisystem disorder that occurs due to mutations in the phosphomannomutase 2 (PMM2) gene, which encodes for an enzyme involved in the N‐glycosylation pathway. Mutated PMM2 leads to t…
View article: INTRACELLULAR DNA DELIVERY USING POLYMERIC NANOPARTICLES FOR LYSOSOMAL STORAGE DISORDERS GENE THERAPY
INTRACELLULAR DNA DELIVERY USING POLYMERIC NANOPARTICLES FOR LYSOSOMAL STORAGE DISORDERS GENE THERAPY Open
INTRODUCTION: Gene therapy can be currently performed by viral or non-viral vectors. Although viral ones have already come to a clinical translation, concerns remain about both safety and the industrial applicability of this system.\nWe th…
View article: Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study
Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study Open