10 results match your criteria: "University Childrens' Hospital Zurich[Affiliation]"
CSF-profile and hypocretin levels in children with narcolepsy type 1 and 2.
Eur J Paediatr Neurol
November 2024
Pediatric Neurology, Children's Hospital Datteln, Witten/Herdecke University, Germany. Electronic address:
Background: Narcolepsy is a rare neurological disease caused by dysfunction of hypocretin-producing neurons. Hypocretin concentrations in the cerebrospinal fluid (CSF) of less than 110 pg/ml are considered pathological in adults.
Objectives: To compare hypocretin levels of children with narcolepsy type 1, type 2 and disease control groups, in addition to a detailed CSF analysis, clinical and polysomnographic parameters.
Association of uterine activity and maternal volatile anesthetic exposure during open fetal surgery for spina bifida: a retrospective analysis.
Int J Obstet Anesth
May 2021
Institute of Anesthesiology, University Hospital Zurich, Zurich, Switzerland; The Zurich Center for Fetal Diagnosis and Therapy, Zurich, Switzerland.
Background: Recent warnings postulate a possible damaging effect of volatile anesthetics on the fetus. In our archive of fetal surgeries, we found wide variation in dosing of volatile anesthetics during spina bifida surgeries. We hypothesized that there was an association between volatile anesthetic exposure and uterine activity.
View Article and Find Full Text PDFCo-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency).
Mol Genet Metab Rep
March 2021
Department of Paediatrics, University Children's Hospital Basel and University of Basel, Basel, Switzerland.
Arts syndrome or phosphoribosyl-pyrophosphate-synthetase-1 (PRPS1) deficiency is caused by loss-of-function mutations in the gene (Xq22.3). PRPS1 is an initial and essential step for the synthesis of the nucleotides of purines, pyrimidines, and nicotinamide.
View Article and Find Full Text PDFOleogel-S10 Phase 3 study "EASE" for epidermolysis bullosa: study design and rationale.
Trials
June 2019
Department of Paediatric Dermatology, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
Background: Epidermolysis bullosa (EB) is a group of rare, genetic diseases that affect the integrity of epithelial tissues, most notably the skin. Patients experience recurrent skin wounding, with severity depending on type, sub-type, and mutation. Oleogel-S10, a formulation of birch bark extract, has demonstrated efficacy in a Phase 2 trial assessing re-epithelialization of wounds in EB.
View Article and Find Full Text PDFMechanism of Oleogel-S10: A triterpene preparation for the treatment of epidermolysis bullosa.
Dermatol Ther
July 2019
Department of Dermatology, Institut Imagine, Necker Enfants Malades Hospital, Paris University, APHP 5; Centre for Genodermatoses (MAGEC); European Network for Rare Skin Diseases (ERN-SKIN), Paris, France.
Article Synopsis
- - Epidermolysis bullosa (EB) is a rare genetic disorder with various subtypes, lacking effective treatments currently.
- - Birch bark extract and betulin have shown potential in promoting skin healing by temporarily increasing pro-inflammatory cytokines and enhancing keratinocyte functions needed for skin repair.
- - Oleogel-S10 has demonstrated positive results in clinical trials for treating partial thickness wounds, suggesting it may help speed up healing in dystrophic EB patients.
Association of perinatal risk factors with neurological outcome in neonates with hypoxic ischemic encephalopathy.
J Matern Fetal Neonatal Med
April 2021
Department of Pediatric and Neonatal Intensive Care, University Childrens' Hospital Zurich, Zurich, Switzerland.
Objective: Neonates exposed to perinatal insults typically present with hypoxic ischemic encephalopathy (HIE). The aim of our study was to analyze the association between known risk factors for HIE and the severity of encephalopathy after birth and neurological outcome in neonates during the first 4 d of life.
Methods: Retrospective cohort study including 174 neonates registered between 2011 and 2013 in the National Asphyxia and Cooling Register of Switzerland.
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
J Inherit Metab Dis
January 2017
Division of Metabolism, Bambino Gesù Children's Research Hospital, Rome, Italy.
Background: Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions.
Objective: To summarise clinical and biochemical characteristics of these severe disorders and to provide guidelines on diagnosis and management.
Data Sources: Review, evaluation and discussion of the medical literature (Medline, Cochrane databases) by a panel of experts on these rare diseases following the GRADE approach.
Assessment of intracardiac flow and vorticity in the right heart of patients after repair of tetralogy of Fallot by flow-sensitive 4D MRI.
Eur Radiol
October 2016
Department of Radiology, University Childrens' Hospital Zurich, Zurich, Switzerland.
Objectives: To comprehensively and quantitatively analyse flow and vorticity in the right heart of patients after repair of tetralogy of Fallot (rTOF) compared with healthy volunteers.
Methods: Time-resolved flow-sensitive 4D MRI was acquired in 24 rTOF patients and 12 volunteers. Qualitative flow evaluation was based on consensus reading of two observers.
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
J Inherit Metab Dis
January 2016
Division of Metabolism and Children's Research Center, University Childrens' Hospital Zürich, Zürich, Switzerland.
Background: Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn defect disturbing the remethylation of homocysteine to methionine (<200 reported cases). This retrospective study evaluates clinical, biochemical genetic and in vitro enzymatic data in a cohort of 33 patients.
Methods: Clinical, biochemical and treatment data was obtained from physicians by using a questionnaire.
Pyridoxine responsiveness in novel mutations of the PNPO gene.
Neurology
April 2014
From the Department of Pediatrics (B.P., L.A.), Division of Child Neurology, University Hospital Zurich, Switzerland; the Department of Pediatrics (B.P.), Division of Neurology and Inborn Errors of Metabolism, Medical University Graz, Austria; radiz-"Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich" (B.P., L.A.); CRC Clinical Research Center (B.P.), University Childrens' Hospital Zurich, Switzerland; the Laboratory of Metabolic Diseases (K.P., E.P., D.H.), Department of Pediatrics, University Hospital Graz, Austria; UCL Institute of Child Health (P.M., P.C.), Clinical and Molecular Genetics Unit, London, UK; Childrens Hospital St. Gallen (O.M., O.H.), Switzerland; the Department of Pediatrics (G.H.), Klinikum Esslingen; the Department of Pediatrics (S.K.), St. Marien Hospital, Landshut, Germany; the Division of Child Neurology (M.C.) and Division of Biochemical Diseases (S.S.), Department of Pediatrics, University of British Columbia, Vancouver, Canada; the Department of Pediatrics, Division of Child Neurology (N.W.), VU University Medical Center and Neuroscience Campus Amsterdam; and the Department of Clinical Chemistry (E.S.), Vrije Universiteit Amsterdam, the Netherlands.
Objective: To determine whether patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene may have PNPO mutations.
Methods: We sequenced the PNPO gene in 31 patients who fulfilled the above-mentioned criteria.
Results: We were able to identify 11 patients carrying 3 novel mutations of the PNPO gene.