A5019470912- Lysosomal Storage Disorders Research
- Heart Failure Treatment and Management
- Trypanosoma species research and implications
- Studies on Chitinases and Chitosanases
- Glycogen Storage Diseases and Myoclonus
- Cellular transport and secretion
- Carbohydrate Chemistry and Synthesis
- Biomedical Research and Pathophysiology
- Emergency and Acute Care Studies
- Iron Metabolism and Disorders
- Hemoglobinopathies and Related Disorders
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Chronic Disease Management Strategies
- Parathyroid Disorders and Treatments
- Cystic Fibrosis Research Advances
- Cardiovascular Function and Risk Factors
- Pneumonia and Respiratory Infections
- Trace Elements in Health
- Renal Diseases and Glomerulopathies
- Electrolyte and hormonal disorders
- Acute Myocardial Infarction Research
- Vitamin D Research Studies
- Potassium and Related Disorders
- Sepsis Diagnosis and Treatment
- Dialysis and Renal Disease Management
University Hospital of Zurich
2015-2024
University of Zurich
2014-2024
University Hospital of Basel
2011-2024
University of Basel
2021-2024
München Klinik
2023-2024
Spital Uster
2023-2024
Universitäre Psychiatrische Dienste Bern
2018-2023
University Hospital Münster
2021
Johannes Gutenberg University Mainz
2021
Spital Linth
2020
Fabry disease (FD) is a rare X-linked lysosomal storage disorder due to mutations in the α-galactosidase A gene (GLA) that result absent or markedly reduce (α-GalA) enzymatic activity. As result, major glycosphingolipid substrates, globotriaosylceramide (Gb3) and globotriaosylsphingosine (LysoGb3) accumulate plasma, urine tissue lysosomes. In females, diagnosis can be complicated by fact 40–50% of GLA-mutation confirmed heterozygotes have normal only slightly decreased leukocyte α-GalA...
Background Fabry disease (FD) is a rare X-linked lysosomal storage caused by mutations in the α-galactosidase A gene ( GLA ) leading to deficiency of and ultimately progressive glycosphingolipid accumulation, especially globotriaosylceramide (Gb3) its deacylated derivative globotriaosylsphingosine (Lyso-Gb3). The aim study was assess plasma Lyso-Gb3 levels as possible factor associated with adverse outcomes FD. Methods In cohort 66 patients genetically confirmed FD (26 males 40 females), we...
Pegunigalsidase alfa is a PEGylated α-galactosidase A enzyme replacement therapy. BALANCE (NCT02795676) assessed non-inferiority of pegunigalsidase versus agalsidase beta in adults with Fabry disease an annualised estimated glomerular filtration rate (eGFR) slope more negative than -2 mL/min/1.73 m
The aim of our multicenter study was to investigate the safety and efficacy enzyme replacement therapy (ERT) chaperone on disease progression in female Fabry (FD) patients compare individual treatment regimens. Data from 3 consecutive visits 102 FD 6 centers were retrospectively analyzed. According their FD-specific treatment, separated 5 groups: Newly agalsidase-beta- [n = 18], agalsidase-alfa- 29] migalastat-[n 14] treated patients, long-term 7] agalsidase-alfa-[n 34] patients. Clinical...
Background Use of enzyme replacement therapy (ERT) to treat Fabry disease, caused by deficient lysosomal α -galactosidase A activity, can lead formation neutralizing antidrug antibodies (ADAs). These are associated with increased accumulation plasma globotriaosylceramide (Gb3) and disease progression. Because agalsidase ERT saturate ADA-binding sites during infusions (achieving agalsidase/antibody equilibrium), we investigated in this open cohort study whether saturated patients (who have...
IntroductionCircular RNAs (circRNAs) have recently been described as novel noncoding regulators of gene expression. They might an impact on microRNA expression by their sponging activity. The detectability in blood these RNA transcripts has demonstrated patients with cancer and cardiovascular disease. We tested the hypothesis that circulating circRNAs critically ill acute kidney injury (AKI) at inception renal replacement therapy may also be dysregulated associated patient survival.MethodsWe...
Background: Vitamin D deficiency is frequent and has been associated with fatigue in uncontrolled trials. Methods: This the first double-blind placebo-controlled clinical trial to investigate efficacy of per os vitamin D3 (cholecalciferol) treating among otherwise healthy persons low serum 25-hydroxyvitamin (25(OH)D) levels. We enrolled 120 individuals (mean age 29 ± 6 years, 53% women) presenting (serum 25(OH)D < 20 μg/L). Participants were randomized a single oral dose 100,000 units or...
Background Enzyme replacement therapy (ERT) may halt or attenuate disease progression in patients with Anderson-Fabry (AFD). However, whether left ventricular hypertrophy (LVH) can be prevented by early still progress despite ERT over a long-term follow-up is unclear. Methods Consecutive AFD from the Independent Swiss-Fabry Cohort receiving who were at least followed up for 5 years included. Cardiac was defined as an increase of >10 g/m 2 mass index (LVMI) between first and last available...
Deranged calcium-phosphate metabolism contributes to the burden of morbidity and mortality in dialysis patients. This study aimed assess association phosphaturic hormone fibroblast growth factor 23 (FGF23) soluble Klotho with all-cause mortality. We measured FGF23 levels at enrolment two weeks later 239 prevalent hemodialysis The primary hypothesis was that low high are associated increased between atrial fibrillation (AF) baseline explored as secondary outcome. AF defined presence...
The clinical utility of procalcitonin in the diagnosis and management pneumonia remains controversial.We assessed 2 prospective studies: first, a multicenter diagnostic study patients presenting to emergency department with acute dyspnea directly compare accuracy that interleukin 6 C-reactive protein (CRP) pneumonia; second, randomized guidance heart failure suspected pneumonia. Diagnostic for as centrally adjudicated by independent experts was quantified area under ROC curve (AUC).Among 690...
Background: The MEESSI-AHF (Multiple Estimation of risk based on the Emergency department Spanish Score In patients with AHF) score was developed to predict 30-day mortality in presenting acute heart failure (AHF) emergency departments (EDs) Spain. Whether it performs well other countries is unknown. Objective: To externally validate another country. Design: Prospective cohort study. (ClinicalTrials.gov: NCT01831115). Setting: Multicenter recruitment dyspneic ED. Participants: external...
Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by the progressive accumulation of globotriaosylceramide (Gb3) leading to systemic manifestations such as chronic kidney disease, cardiomyopathy, and stroke. There still a need for novel markers improved FD screening prognosis. Moreover, pathological mechanisms in FD, which also include inflammation fibrosis, are not yet fully understood.
Obese patients have lower natriuretic peptide concentrations. We hypothesized that adjusting the concentration of N-terminal pro-B-type (NT-proBNP) for obesity could further increase its clinical utility in early diagnosis acute heart failure (AHF). This hypothesis was tested a prospective diagnostic study enrolling unselected presenting to emergency department with dyspnoea. Two independent cardiologists/internists centrally adjudicated final using all individual patient information...
Inhibitory antibodies towards enzyme replacement therapy (ERT) are associated with disease progression and poor outcome in affected male patients lysosomal disorders such as Fabry (FD). However, little is known about the impact of immunosuppressive on ERT inhibition these FD.In this retrospective study, we investigated effect long-term immunosuppression FD (n = 26) receiving due to kidney 24) or heart 2) transplantation.No ERT-naïve transplanted patient 8) developed within follow-up (80 ±72...