Matilde Ferrario

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?

Laura Fiori, Massimiliano Turzi, Veronica Maria Tagi, Laura Asnaghi et autres

ABSTRACT GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues. Among different GM1 forms (infantile form, late‐infantile and juvenile form, and late‐onset form), the infantile form is the most severe: …

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Endocrine system disturbances in children with inherited metabolic diseases: a narrative review

Veronica Maria Tagi, Laura M. Fiori, C Montanari, Davide Tonduti et autres

Inborn metabolic diseases (IMDs) represent a diverse and complex group of rare disorders, typically resulting from variants in genes that encode specific enzymes or cofactors, leading to reduced or absent enzymatic activity. These conditions commonly disrupt one or more metabolic pathways, often …

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Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study

Eleonora Bonaventura, Fabio Bruschi, Luisella Alberti, Clara Eleonora Antonello et autres

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by mutations in the ABCD1 gene. Early diagnosis is critical to manage adrenal insufficiency and cerebral forms of the disease. Since 2021, a pilot newborn screening (NBS) program for X-ALD has been …

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Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring

Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti et autres

[This corrects the article DOI: 10.3389/fneur.2022.1072256.].

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Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring

Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti et autres

Introduction X-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder caused by variants in the ABCD1 gene. The main phenotypes observed in men with X-ALD are primary adrenal insufficiency, adrenomyeloneuropathy, and cerebral ALD (cALD). Cerebral ALD consists of a demyelinating progressive …

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Complete revascularization improves survival of patients resuscitated after an out-of-hospital cardiac arrest

Vilma Kajana, Roberto Primi, FR Gentile, Sara Compagnoni et autres

Abstract Funding Acknowledgements Type of funding sources: None. Background Sudden cardiac death is a major issue in industrialised countries and survival of patients who suffered from an out-of-hospital cardiac arrest (OHCA) remains awfully low. An acute myocardial infarction is the principal cause …

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C26 COMPLETE REVASCULARISATION IMPROVES SURVIVAL OF PATIENTS RESUSCITATED AFTER AN OUT–OF–HOSPITAL CARDIAC ARREST

Vilma Kajana, Roberto Primi, Francesca Romana Gentile, Sara Compagnoni et autres

Abstract Background Sudden cardiac death is a major issue in industrialised countries and survival of patients after out–of–hospital cardiac arrest (OHCA) remains low. Acute myocardial infarction (AMI) is the principal cause of OHCA and myocardial revascularisation plays a positive role on survival. …

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Validation of an Accurate and Noninvasive Tool to Exclude Female Precocious Puberty: Pelvic Ultrasound With Uterine Artery Pulsatility Index

Pier Luigi Paesano, Caterina Colantoni, Stefano Mora, Alessandra di Lascio et autres

A PI greater than 4.6 at spectral Doppler US combined with a longitudinal uterine diameter less than 35 mm allows noninvasive exclusion of female precocious puberty with comparable accuracy and lower costs compared to examination of LH peak after GnRH stimulation. Therefore, …

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Early onset of puberty in young girls: an Italian cross-sectional study.

G. Russo, Paola Brambilla, F Della Beffa, Matilde Ferrario et autres

BACKGROUND: International literature and clinical practice have referred to Marshall and Tanner data to define the physiological age at onset of puberty. A study in the United States (1997) showed an anticipation in pubertal onset, whereas several European studies did not confirm …

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Parola e musica in Plutarco e in Filodemo

Matilde Ferrario

Commentary

Matilde Ferrario, Ezio Bramucci

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Per una nuova edizione del PHerc. 1670 (Filodemo, Sulla Provvidenza?)

Matilde Ferrario