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Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.
Eur J Med Genet
November 2020
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Institute of Human Genetics, Technische Universität München, Munich, Germany; Centre for Rare Diseases, University of Tuebingen, Tübingen, Germany.
Background: ECHS1 encodes the mitochondrial short chain enoyl CoA hydratase 1 (SCEH). Biallelic ECHS1 variants have been associated with Leigh-like presentations and milder phenotypes with paroxysmal exercise-induced dystonia.
Patients/methods: We used exome sequencing to investigate molecular bases of paroxysmal and non-paroxysmal dystonia in three patients and performed functional studies in fibroblasts.
Diphenhydramine for Acute Extrapyramidal Symptoms After Propofol Administration.
Pediatrics
February 2017
Department of Neurology, Rutgers New Jersey Medical School, Newark, New Jersey
Extrapyramidal symptoms are an uncommon but well-recognized side effect after the administration of general anesthesia in patients without a significant neurologic history. Several case reports implicate propofol as the likely causative agent producing these symptoms, which include ballismus, dystonia, choreoathetosis, and opisthotonus. Currently, there is no clear consensus on first-line treatment of these symptoms.
View Article and Find Full Text PDFCerebrospinal nematodiasis outbreak in an urban outdoor aviary of cockatiels (Nymphicus hollandicus) in southern California.
J Vet Diagn Invest
September 2012
California Animal Health and Food Safety Laboratory, University of California-Davis, 105 W Central Avenue, San Bernardino, CA 92408, USA.
An outbreak of cerebrospinal nematodiasis due to Baylisascaris sp. was documented in an urban outdoor aviary in southern California. Thirty-four out of 35 cockatiels (Nymphicus hollandicus, 97%) showed a variety of neurological signs including ataxia, lateral recumbency, opisthotonus, and torticollis.
View Article and Find Full Text PDFOpisthotonus, torticollis and mortality in a breeding colony of Anolis sp. lizards.
Lab Anim (NY)
April 2011
Center for Comparative Medicine, University of Virginia, Charlottesville, VA, USA.
A novel Sarcocystis-associated encephalitis and myositis in racing pigeons.
Avian Pathol
April 2009
Department of Veterinary Pathology, Freie Universität Berlin, Robert-von-Ostertag-Strasse 15, Berlin, Germany.
Sarcosporidian cysts in the skeletal muscle of domestic pigeons (Columba livia f. domestica) have previously been attributed to infection with Sarcocystis falcatula, which is shed in the faeces of the opossum (Didelphis virginiana). Here, we describe fatal spontaneous encephalitis and myositis associated with Sarcocystis infections in three flocks of racing pigeons with 47 of 244 animals affected.
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