A5085319689- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Autoimmune Bullous Skin Diseases
- Urticaria and Related Conditions
- Hemophilia Treatment and Research
- Vitamin K Research Studies
- Blood Coagulation and Thrombosis Mechanisms
- Chronic Myeloid Leukemia Treatments
- Therapeutic Uses of Natural Elements
- Liver Disease Diagnosis and Treatment
- Venous Thromboembolism Diagnosis and Management
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Poisoning and overdose treatments
- Lipid metabolism and disorders
- Kidney Stones and Urolithiasis Treatments
- Enzyme function and inhibition
- Mast cells and histamine
- Peptidase Inhibition and Analysis
- Pharmaceutical studies and practices
- Complement system in diseases
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- PI3K/AKT/mTOR signaling in cancer
University of Amsterdam
2020-2024
University of Auckland
2024
Cambridge University Hospitals NHS Foundation Trust
2024
Auckland City Hospital
2024
Humboldt-Universität zu Berlin
2022-2023
Charité - Universitätsmedizin Berlin
2022-2023
Amsterdam University Medical Centers
2020-2023
Université Paris-Saclay
2023
Commissariat à l'Énergie Atomique et aux Énergies Alternatives
2023
Centre National de Recherche en Génomique Humaine
2023
Hereditary angioedema is a rare genetic disease that leads to severe and unpredictable swelling attacks. NTLA-2002 an in vivo gene-editing therapy based on clustered regularly interspaced short palindromic repeats (CRISPR)-CRISPR-associated protein 9. targets the gene encoding kallikrein B1 (
Hereditary angioedema is characterized by recurrent and unpredictable episodes of subcutaneous mucosal swelling that can be life threatening. IONIS-PKK-LRx a ligand-conjugated antisense oligonucleotide designed for receptor-mediated delivery to hepatocytes. In compassionate-use pilot study, two patients with severe bradykinin-mediated were initially administered weekly injections the unconjugated parent drug, IONIS-PKKRx, 12 16 weeks, after which they received at dose 80 mg every 3 4 weeks 7...
Hereditary angioedema is characterized by recurrent and unpredictable swellings that are disabling potentially fatal. Selective inhibition of plasma prekallikrein production antisense oligonucleotide treatment (donidalorsen) may reduce the frequency attacks burden disease.
The Angioedema Control Test (AECT) is a patient-reported outcome measure developed and validated for the assessment of disease control in patients with recurrent angioedema. Its sensitivity to change minimal clinically important difference (MCID) have hitherto not been established.
Angioedema due to acquired C1-inhibitor deficiency is a very rare but serious disease, with an estimated prevalence of 1 per 500,000 persons. There are no approved therapies treat or prevent angioedema swelling in patients this condition. Deucrictibant specific, orally bioavailable, competitive antagonist the bradykinin B2 receptor currently under investigation for hereditary angioedema.
Clinical ImplicationsAdult patients with hereditary angioedema due to C1-inhibitor deficiency can be safely vaccinated against coronavirus disease 2019 without prior administration of short-term prophylaxis, provided that effective on-demand treatment is available in the event an attack. Adult Hereditary (HAE) (C1-INH) leads disabling and potentially life-threatening recurring swellings cutaneous submucosal tissues. These result from inadequate control contact system, causing excessive...
According to the current treatment guidelines, goals of patients with hereditary angioedema (HAE) are achieve total control disease and normalize patients' lives.This study aims establish entire burden HAE comprising control, satisfaction, reductions in quality life, societal costs.Adult under at Dutch national center reference completed a cross-sectional survey 2021. The consisted different questionnaires: angioedema-specific questionnaires (4-week Angioedema Activity Score Control Test),...
Severe hypertriglyceridemia is a major risk factor for acute pancreatitis. In exceptional cases, it caused by plasma components inhibiting lipoprotein lipase activity. This phenomenon predominantly associated with autoimmune diseases. Here, we report case of severe due to transient reduction in activity following an episode COVID-19 otherwise healthy 45-year-old woman. The the patient was markedly reduced compared control and did recover 20% control’s 5 months after episode. Mixing tests...
Oxalate kidney injury can manifest as oxalate nephropathy or nephrolithiasis and present acute even end-stage renal disease. There are several known causes for nephropathy; however, the combination of exocrine pancreatic insufficiency with overconsumption vitamin C has not been described before. In this case, a man in his early 80s presented anorexia extreme fatigue 1 week. He had history myalgic encephalomyelitis, also chronic syndrome, which he took supplements, including high doses C....
Hereditary angiodema with normal C1 inhibitor and unknown mutation (HAE-nC1INH-UNK), an exceedingly rare subtype of HAE, appears to be often diagnosed in patients who do not have this condition, but mast cell-mediated angioedema. Here, we report two HAE-nC1INH-UNK by their physicians, referred them our center for treatment continuation costly kallikrein-kinin-system targeted therapies. We describe how established the correct diagnosis recurrent angioedema after thorough investigation both...
Hereditary angioedema (HAE) is characterized by recurrent mucosal and cutaneous swellings, resulting from excessive bradykinin generation, which the end product of kallikrein/kinin system.[1] [2] HAE predominantly occurs in patients with congenital C1-inhibitor deficiency. controls activation factor XII (FXII) plasma prekallikrein (PK). Notably, bradykinin-mediated also described normal levels functionality C1-inhibitor.[3] Inhibition PK currently being investigated as a prophylactic...
Clinical ImplicationsMore than one-third of patients with hereditary angioedema are hesitant to have children because their condition. Patients support the availability reproductive options for prevent birth an affected child, including preimplantation genetic testing. More Hereditary (HAE) is autosomal-dominant monogenic disorder, causing painful or hindering swellings that can even be life-threatening. The severity and frequency attacks differ between patients, regardless...
Daratumumab-based treatment could control severe, treatment-refractory, life-threatening angioedema due to acquired C1-inhibitor deficiency associated with monoclonal gammopathy.
95% CI: -8.61, -2.26).Among the 14 genetic variants associated with increased coagulation, ST3GAL4 rs35257264 was most strongly each thrombin generation parameter as well FVIII levels (8.30% per allele, 2.29, 14.31). Conclusion(s):These results suggest that likely increase risk of VTE by affecting coagulation pathway.Our findings contribute to a better understanding biological mechanisms which VTE.