Publications by authors named "A Ziagaki"
Background: Despite a phenylalanine (Phe) restrictive diet, most adult patients with 'classical' phenylketonuria (PKU) maintain life-long Phe concentrations above the normal range and receive tyrosine (Tyr) and protein-enriched diets to maintain acceptable concentrations and ensure normal development. While these interventions are highly successful in preventing adverse neuropsychiatric complications, their long- term consequences are incompletely explored. We observed early cardiomyopathic characteristics and associated hemodynamic changes in adult PKU patients and present here the results of a longitudinal evaluation of cardiac phenotype.
View Article and Find Full Text PDFThe European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Orphanet J Rare Dis
November 2024
Article Synopsis
- Clinical pathway recommendations (CPR) provide guidance on managing specific diagnoses, in this case, Pompe disease, a metabolic disorder caused by a deficiency in a specific enzyme.
- The CPR document was created by a working group from MetabERN, which focuses on metabolic diseases, and involved systematic literature searches and quality assessments based on established methodologies.
- This document aims to standardize care for Pompe disease patients by addressing various aspects including pathophysiology, diagnosis, treatment, and follow-up strategies for healthcare providers.
Article Synopsis
- Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disease in Germany with various clinical forms, necessitating more data on survival and health outcomes in affected patients.
- A retrospective study analyzed medical records of 33 patients diagnosed with ASMD type B or A/B between 1990 and 2021, focusing on demographics, medical history, hospitalizations, and mortality rates.
- The study found a high mortality rate, especially in patients under 18, with median ages at diagnosis of 8 years for type B and 1 year for type A/B, revealing that liver and respiratory issues were the leading causes of death.
Granulomatosis or eosinophilic granulomatosis with polyangiitis (GPA/EGPA) can affect multiple organs resulting in heterogeneous symptoms and phenotypes. Pituitary gland dysfunction rarely occurs in GPA (1-3%) and even less in EGPA (two case reports). Here, we report a case of a 51-year-old female patient with a four-year history of EGPA who presented with new polydipsia and polyuria.
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