A5019168749- Porphyrin Metabolism and Disorders
- Heme Oxygenase-1 and Carbon Monoxide
- Methemoglobinemia and Tumor Lysis Syndrome
- Neonatal Health and Biochemistry
- Folate and B Vitamins Research
- Adrenal Hormones and Disorders
- Pituitary Gland Disorders and Treatments
- Growth Hormone and Insulin-like Growth Factors
- melanin and skin pigmentation
- Adrenal and Paraganglionic Tumors
- Acute Lymphoblastic Leukemia research
- Alcoholism and Thiamine Deficiency
- Childhood Cancer Survivors' Quality of Life
- Neurological and metabolic disorders
- Acne and Rosacea Treatments and Effects
- Thyroid Disorders and Treatments
- Sympathectomy and Hyperhidrosis Treatments
- Palliative Care and End-of-Life Issues
- Metabolism and Genetic Disorders
- Potassium and Related Disorders
Triemli Hospital
2021-2024
Swiss Re (Switzerland)
2024
Stadtspital Waid
2020-2022
The Christie NHS Foundation Trust
2015
Cushing's syndrome (CS) is a severe condition with excess mortality and significant morbidity necessitating control of hypercortisolemia. There are few data documenting use the steroidogenesis inhibitor metyrapone for this purpose.
Acute hepatic porphyria (AHP) is caused by defects in heme biosynthesis, leading to disabling acute neurovisceral attacks and chronic symptoms. In ENVISION (NCT03338816), givosiran treatment for 6 months reduced other disease manifestations compared with placebo. Herein, we report data from the 36-month final analysis of ENVISION.Ninety-four patients AHP (age ≥12 years) recurrent were randomized 1:1 monthly double-blind subcutaneous 2.5 mg/kg (n = 48) or placebo 46) months. open-label...
In our study, we aimed to characterise adult childhood cancer survivors (ACCS), assess their health issues, gauge health-related quality of life (HRQOL) and evaluate visit satisfaction.
Abstract Background Erythropoietic protoporphyria (EPP) is an ultra-rare genetic disorder (prevalence 1:150`000) characterized by instant painful phototoxic burn reactions in skin exposed to visible light. Afamelanotide the first clinically tested therapy effectively increasing time EPP patients can spend direct sunlight without developing symptoms and reducing number severity of reactions. Objectives We report our data on real-world effectiveness afamelanotide treatment its protection...
Erythropoietic protoporphyria (EPP) is an ultra-rare inborn error of metabolism characterised by painful phototoxic burn injuries after short exposure times to visible light. Patients with EPP are highly adapted their condition which makes the quantification health-related quality life (QoL) challenging. In presented patient-initiated feasibility study, we describe a new approach assess treatment benefits in measuring QoL generic EQ-5D instrument five patients under long-term (≥two years)...
In animal models, melanocyte-stimulating hormones (MSHs) protect the liver from various injuries. Erythropoietic protoporphyria (EPP), a metabolic disorder, leads to accumulation of protoporphyrin (PPIX). addition most prominent symptom incapacitating phototoxic skin reactions, 20% EPP patients exhibit disturbed functioning and 4% experience terminal failure caused by hepatobiliary elimination excess PPIX. Skin symptoms are mitigated through application controlled-release implant...
Erythropoietic protoporphyria (EPP) is an ultra-rare inherited disorder with overproduction of protoporphyrin in maturating erythroblasts. This excess leads to incapacitating phototoxic burns sunlight exposed skin. Its biliary elimination causes cholestatic liver injury 20% and terminal failure 4% EPP patients. Thereby, the risk increases increasing erythrocyte concentrations. Afamelanotide, α-melanocyte-stimulating hormone (MSH) analog inducing skin pigmentation, was shown improve tolerance...
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)
Abstract is missing (Short communication)
Acute porphyrias are a group of monogenetic inborn errors heme biosynthesis, characterized by acute and potentially life-threatening neurovisceral attacks upon exposure to certain triggering factors. Biochemical analyses can determine the type porphyria, subsequent genetic analysis allows for identification pathogenic variants in specific gene, which provides information family counselling. In 2017, male Swiss patient was diagnosed with an porphyria while suffering from attack. The pattern...
Background and aims: Porphyrias constitute a group of rare genetic diseases due to various, mostly autosomal dominant mutations, causing enzymatic deficiency in heme biosynthesis. As result, neurotoxic porphyrin precursors light-sensitive porphyrins accumulate, while dysfunction their targets determines the disease symptoms. Variegate porphyria (VP), one acute hepatic porphyrias, is caused by protoporphyrinogen oxidase (PPOX) mutation. During attacks, among other factors, triggered drugs,...
Eine 29-jahrige Frau stellte sich auf dem Notfall mit Obstipation, Nausea und krampfartigen Schmerzen vor, die sie seit drei Tagen nach Jakobsmuschelverzehr aufwies.
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)
Une femme de 29 ans s’est presentee aux urgences en raison d’une constipation, nausees et douleurs spasmodiques qui avaient debute trois jours auparavant, suite a la consommation coquilles Saint-Jacques.