Severity: Warning
Message: fopen(/var/lib/php/sessions/ci_session9g174kh537ht1tsuuatiudvdrqm5qhgv): Failed to open stream: No space left on device
Filename: drivers/Session_files_driver.php
Line Number: 177
Backtrace:
File: /var/www/html/index.php
Line: 316
Function: require_once
Severity: Warning
Message: session_start(): Failed to read session data: user (path: /var/lib/php/sessions)
Filename: Session/Session.php
Line Number: 137
Backtrace:
File: /var/www/html/index.php
Line: 316
Function: require_once
54 results match your criteria: "St. Bassiano Hospital[Affiliation]"
Eur J Neurol
December 2024
Division of Inherited Metabolic Diseases, University Hospital of Padua, Padua, Italy.
Brain Commun
March 2024
Clinical Department of Neurology, Medical University of Innsbruck, 6020 Innsbruck, Austria.
JIMD Rep
March 2024
Division of Inherited Metabolic Diseases, Department of Women's and Children's Health University Hospital of Padua Padua Italy.
Methylmalonic acidemia cblB type (MMA cblB) is an autosomal recessive inborn error of amino acid metabolism that results in impaired synthesis of adenosylcobalamin, a cofactor of methylmalonyl-CoA mutase. It presents with episodes of coma, vomiting, hypotonia, metabolic acidosis, and hyperammonemia. End-stage kidney disease is a long-term complication.
View Article and Find Full Text PDFInt J Neonatal Screen
December 2023
Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, 35128 Padua, Italy.
In the last two decades, the development of high-throughput diagnostic methods and the availability of effective treatments have increased the interest in newborn screening for lysosomal storage disorders. However, long-term follow-up experience is needed to clearly identify risks, benefits and challenges. We report our 8-year experience of screening and follow-up on about 250,000 neonates screened for four lysosomal storage diseases (Pompe disease, mucopolysaccharidosis type I, Fabry disease, Gaucher disease), using the enzyme activity assay by tandem mass spectrometry, and biomarker quantification as a second-tier test.
View Article and Find Full Text PDFOrphanet J Rare Dis
September 2023
Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Background: Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated classical PKU are discrepant. Moreover, little is known about metabolic, demographic, and cognitive factors associated with HRQoL.
View Article and Find Full Text PDFInt J Neonatal Screen
June 2023
Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, Italy.
Fabry disease is an X-linked progressive lysosomal disorder, due to α-galactosidase A deficiency. Patients with a classic phenotype usually present in childhood as a multisystemic disease. Patients presenting with the later onset subtypes have cardiac, renal and neurological involvements in adulthood.
View Article and Find Full Text PDFMol Genet Metab
June 2023
Department of Pediatrics, University of Torino, Torino, Italy.
Fabry disease is an X-linked lysosomal storage disorder caused by the accumulation of glycosphingolipids in various tissues and body fluids, leading to progressive organ damage and life-threatening complications. Phenotypic classification is based on disease progression and severity and can be used to predict outcomes. Patients with a classic Fabry phenotype have little to no residual α-Gal A activity and have widespread organ involvement, whereas patients with a later-onset phenotype have residual α-Gal A activity and disease progression can be limited to a single organ, often the heart.
View Article and Find Full Text PDFAm J Med Genet A
July 2023
Division of Inherited Metabolic Diseases, Department of Diagnostic Services, Padua University Hospital, Padua, Italy.
Gaucher disease is the most common of the lysosomal storage diseases. It presents a wide phenotypic continuum, in which one may identify the classically described phenotypes, including type 1 form with visceral involvement, type 2 acute neuropathic early-infantile form, and type 3 subacute neuronopathic form. At the most severe end there is the perinatal form with onset in utero or during the neonatal period.
View Article and Find Full Text PDFOrphanet J Rare Dis
March 2023
Neurology Unit, St. Bassiano Hospital, Bassano del Grappa, Italy.
Mol Genet Metab
February 2023
Departments of Pediatrics and Medicine, University of Minnesota, Minneapolis, MN, USA.
Background: Clinical manifestations of classic Fabry disease (α-galactosidase A deficiency) usually occur in childhood, while complications involving major organs typically develop in adulthood. Outcomes of Fabry-specific treatment among young patients have not been extensively reported. Our aim was to analyze clinical outcomes among patients aged 5-30 years at initiation of treatment with agalsidase beta using data from the Fabry Registry (NCT00196742, sponsor: Sanofi).
View Article and Find Full Text PDFOrphanet J Rare Dis
December 2022
Neurology Unit, St. Bassiano Hospital, Bassano del Grappa, Italy.
Phenylketonuria (PKU) is an inherited metabolic disease characterized by a defective conversion of phenylalanine (Phe) to tyrosine, potentially leading to Phe accumulation in the brain. Dietary restriction since birth has led to normal cognitive development. However, PKU patients can still develop cognitive or behavioral abnormalities and subtle neurological deficits.
View Article and Find Full Text PDFMol Genet Metab Rep
December 2022
Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.
Pompe disease (PD) is a progressive neuromuscular disorder caused by a lysosomal acid α-glucosidase (GAA) deficiency. Enzymatic replacement therapy is available, but early diagnosis by newborn screening (NBS) is essential for early treatment and better outcomes, especially with more severe forms. We present results from 7 years of NBS for PD and the management of infantile-onset (IOPD) and late-onset (LOPD) patients, during which we sought candidate predictive parameters of phenotype severity at baseline and during follow-up.
View Article and Find Full Text PDFJIMD Rep
September 2022
Division of Inherited Metabolic Diseases, Department of Diagnostic Services University Hospital Padua Italy.
Gaucher disease (GD) is a lysosomal disorder characterized by the storage of glucosylceramide in macrophages ("Gaucher cells"), particularly in the spleen, liver, and bone marrow. The most common phenotype, GD type 1, usually presents with hepatosplenomegaly, cytopenias, and sometimes bone involvement at variable age. Enzyme replacement therapy (ERT) is available and effective, but some severe manifestations are irreversible (e.
View Article and Find Full Text PDFJ Neurol
May 2022
Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Background: Functional neurological disorders (FND) are disabling medical conditions commonly seen in neurological practice. Neurologists play an essential role in managing FND, from establishing a diagnosis to coordination of multidisciplinary team-based treatment for patients. With this study, we investigated the knowledge and the clinical experience of Italian neurologists in managing patients with FND.
View Article and Find Full Text PDFInt J Cardiol
September 2021
Multimodality Cardiac Imaging Section, IRCCS Policlinico San Donato, San Donato Milanese, Italy. Electronic address:
Biomolecules
June 2021
Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35129 Padua, Italy.
Fabry disease (FD) is a progressive multisystemic lysosomal storage disease. Early diagnosis by newborn screening (NBS) may allow for timely treatment, thus preventing future irreversible organ damage. We present the results of 5.
View Article and Find Full Text PDFMol Genet Metab
May 2021
Neurology Unit, St Bassiano Hospital, Bassano del Grappa, Italy.
Objective: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inherited autosomal recessive disorder of biogenic amine metabolism. Diagnosis requires analysis of neurotransmitter metabolites in cerebrospinal fluid, AADC enzyme activity analysis, or molecular analysis of the DDC gene. 3-O-methyldopa (3-OMD) is a key screening biomarker for AADC deficiency.
View Article and Find Full Text PDFMol Genet Metab
April 2021
Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust and University College London, London, UK. Electronic address:
Background: Recent years have witnessed a considerable increase in clinical trials of new investigational agents for Fabry disease (FD). Several trials investigating different agents are currently in progress; however, lack of standardisation results in challenges to interpretation and comparison. To facilitate the standardisation of investigational programs, we have developed a common framework for future clinical trials in FD.
View Article and Find Full Text PDFEur Heart J Cardiovasc Imaging
January 2022
Multimodality Cardiac Imaging Section, IRCCS Policlinico San Donato, San Donato Milanese, Via Morandi 30, Milan 20097, Italy.
Aims: Fabry cardiomyopathy is characterized by glycosphingolipid storage and increased myocardial trabeculation has also been demonstrated. This study aimed to explore by cardiac magnetic resonance whether myocardial trabecular complexity, quantified by endocardial border fractal analysis, tracks phenotype evolution in Fabry cardiomyopathy.
Methods And Results: Study population included 20 healthy controls (12 males, age 32±9) and 45 Fabry patients divided into three groups: 15 left ventricular hypertrophy (LVH)-negative patients with normal T1 (5 males, age 28±13; Group 1); 15 LVH-negative patients with low T1 (9 males, age 33±9.
Clin Kidney J
December 2020
Unidad de Dialisis, IIS-Fundacion Jimenez Diaz, School of Medicine, UAM, IRSIN and REDINREN, Madrid, Spain.
The rapid spread of coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 has raised questions about Fabry disease (FD) as an independent risk factor for severe COVID-19 symptoms. Available real-world data on 22 patients from an international group of healthcare providers reveals that most patients with FD experience mild-to-moderate COVID-19 symptoms with an additional complication of Fabry pain crises and transient worsening of kidney function in some cases; however, two patients over the age of 55 years with renal or cardiac disease experienced critical COVID-19 complications. These outcomes support the theory that pre-existent tissue injury and inflammation may predispose patients with more advanced FD to a more severe course of COVID-19, while less advanced FD patients do not appear to be more susceptible than the general population.
View Article and Find Full Text PDFNutrients
July 2020
Division of Inherited Metabolic Diseases, Department of Women and Children's Health, University Hospital of Padova, Via Giustiniani 3, 35128 Padova, Italy.
The gold standard treatment for phenylketonuria (PKU) is a lifelong low-phenylalanine (Phe) diet supplemented with Phe-free protein substitutes. Adherence to therapy becomes difficult after childhood. Supplementing with large neutral amino acids (LNAAs) has been proposed as an alternative medication to Phe-free protein substitutes (i.
View Article and Find Full Text PDFClin Chem Lab Med
November 2020
Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening Department of Women and Children's Health, University Hospital of Padova, Via Orus 2/B, 35129 Padova, Italy.
Objectives Mucopolysaccharidosis type I (MPS I) was added to our expanded screening panel in 2015. Since then, 127,869 newborns were screened by measuring α-L-iduronidase (IDUA) enzyme activity with liquid chromatography tandem mass spectrometry (LC-MS/MS). High false positives due to frequent pseudodeficiency alleles prompted us to develop a second-tier test to quantify glycosaminoglycan (GAG) levels in dried blood spot (DBS).
View Article and Find Full Text PDFEur J Neurol
June 2020
Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Background And Purpose: Guidelines on monogenic cerebral small-vessel disease (cSVD) diagnosis and management are lacking. Endorsed by the Stroke and Neurogenetics Panels of the European Academy of Neurology, a group of experts has provided recommendations on selected monogenic cSVDs, i.e.
View Article and Find Full Text PDFInt J Neonatal Screen
June 2019
Neurological Unit, St. Bassiano Hospital, Via dei Lotti 40, 36061 Bassano del Grappa, Italy.
The increasing availability of treatments and the importance of early intervention have stimulated interest in newborn screening for lysosomal storage diseases. Since 2015, 112,446 newborns in North Eastern Italy have been screened for four lysosomal disorders-mucopolysaccharidosis type I and Pompe, Fabry and Gaucher diseases-using a multiplexed tandem mass spectrometry (MS/MS) assay system. We recalled 138 neonates (0.
View Article and Find Full Text PDFClin Chem Lab Med
November 2019
Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children's Health, University Hospital of Padova, Padova, Italy.
Background Lysosphingolipids, the N-deacylated forms of sphingolipids, have been identified as potential biomarkers of several sphingolipidoses, such as Gaucher, Fabry, Krabbe and Niemann-Pick diseases and in GM1 and GM2 gangliosidoses. To date, different methods have been developed to measure various lysosphingolipids (LysoSLs) in plasma. Here, we present a novel liquid chromatography tandem mass spectrometry (LC-MS/MS) assay for a simultaneous quantification of LysoSLs (HexSph, LysoGb3, LysoGM1, LysoGM2, LysoSM and LysoSM509) in dried blood spot (DBS).
View Article and Find Full Text PDF