Karolina M Stepien


Affiliation: Nottingham University Hospitals Trust
Location: Nottingham, UK


  1. Tomaszewski M, Stępień K, Tomaszewska J, Czuczwar S. Statin-induced myopathies. Pharmacol Rep. 2011;63:859-66 pubmed
    ..Currently, the only effective treatment of statin-induced myopathy is the discontinuation of statin use in patients affected by muscle aches, pains and elevated CK levels. ..
  2. Stepien K, Tomaszewski M, Luszczki J, Czuczwar S. The interactions of atorvastatin and fluvastatin with carbamazepine, phenytoin and valproate in the mouse maximal electroshock seizure model. Eur J Pharmacol. 2012;674:20-6 pubmed publisher
    ..The former interaction was pharmacokinetic in nature. ..
  3. Stepien K, Taylor A. Colloidal silver ingestion with copper and caeruloplasmin deficiency. Ann Clin Biochem. 2012;49:300-1 pubmed publisher
    ..Low serum copper may result in decreased caeruloplasmin synthesis. We report the case of a 59-year-old woman, who was admitted to hospital with acute psychosis and who had been ingesting chronically, colloidal silver. ..
  4. Holland R, Rechel B, Stepien K, Harvey I, Brooksby I. Patients' self-assessed functional status in heart failure by New York Heart Association class: a prognostic predictor of hospitalizations, quality of life and death. J Card Fail. 2010;16:150-6 pubmed publisher
    ..047 for EQ-5D), and was associated with higher mortality rate (adjusted hazard ratio 1.84; 95% CI 1.10-3.06; P=.02). SA-NYHA class is predictive of hospitalization, quality of life, and mortality among patients with heart failure. ..
  5. Stepien K, Prinsloo P, Hitch T, McCulloch T, Sims R. Acute renal failure, microangiopathic haemolytic anemia, and secondary oxalosis in a young female patient. Int J Nephrol. 2011;2011:679160 pubmed publisher
    ..The patient completed five sessions of plasma exchange and was able to discontinue dialysis. She eventually achieved full renal recovery. She has now discontinued sclerotherapy and vitamin supplementation. ..
  6. Stepien K, Hendriksz C, Roberts M, Sharma R. Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years. Mol Genet Metab. 2016;117:413-8 pubmed publisher
    ..However, in some patients they continued to decline in spite of ERT resulting in increased number of patients requiring ventilation and increase wheel chair dependence at the end of 5years. ..
  7. Stępień K, Roberts M, Hendriksz C. Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency--diagnostic difficulties and own experience in multidisciplinary management. Dev Period Med. 2015;19:450-3 pubmed
    ..Hence, the liaison between neurologists, rheumatologists and metabolic physicians is essential in early diagnosis and the management of patients with conditions causing myopathy. ..
  8. Stepien K, Wierzbicki A, Poll The B, Waterham H, Hendriksz C. The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency. JIMD Rep. 2017;33:49-53 pubmed publisher
    ..Measures were taken to minimise the risk of acute neurological decompensation. The infant was unaffected and has made normal developmental progress in the subsequent 2 years. ..
  9. Stepien K, Pastores G, Hendroff U, McCormick C, Fitzimons P, Khawaja N, et al. Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1. JIMD Rep. 2018;: pubmed publisher
    ..The multidisciplinary team, consisting of metabolic, dietetic and obstetric care providers, have responsibility to ensure the risk of acute decompensation in pregnant GA1 women is minimal. ..

Detail Information


  1. Stępień K, Hendriksz C. The principles of the transition process from paediatric to adult services in inborn errors of metabolism--own experience. Dev Period Med. 2015;19:523-7 pubmed
    ..Both healthcare professionals and parents should facilitate the process of building new relationships between the adolescent and the adult metabolic teams. ..
  2. Stepien K, Heaton R, Rankin S, Murphy A, Bentley J, Sexton D, et al. Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders. J Clin Med. 2017;6: pubmed publisher
  3. Stepien K, Lum S, Wraith J, Hendriksz C, Church H, Priestman D, et al. Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease. JIMD Rep. 2017;: pubmed publisher
    ..He continues to experience some intentional tremor that is tolerable for daily life and nonprogressive since HSCT. HSCT is a potential treatment option which might arrest neurodegeneration in patients with LOTS. ..