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| http://dx.doi.org/10.5152/npa.2015.9918 | DOI Listing |
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Steroid-Responsive Involuntary Movements as a Remote Symptom of Febrile Infection-Related Epilepsy Syndrome.
Cureus
May 2024
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, JPN.
Febrile infection-related epilepsy syndrome (FIRES) is a rare epileptic encephalopathy that occurs in children or adolescents. To date, evidence for the management of the post-acute phase of FIRES is focused on drug-resistant epilepsy that continues from the acute phase. Information on involuntary movements, which are newly developed in the chronic phase, is limited.
View Article and Find Full Text PDFNivolumab-associated immune-related filamentary keratitis.
BMJ Case Rep
April 2024
Ophthalmology, Centro Hospitalar de Lisboa Ocidental EPE Hospital de Egas Moniz, Lisboa, Portugal.
A woman in her late 50s presented to the ophthalmology clinic having bilateral eye pain and discharge for the last month. Her medical history was significant for lung adenocarcinoma, for which she was being treated with nivolumab. Filamentary keratitis was evident at the slit-lamp examination.
View Article and Find Full Text PDFVariable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in .
Front Genet
July 2022
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, United States.
Diamond Blackfan anemia (DBA) is an autosomal dominant ribosomopathy caused predominantly by pathogenic germline variants in ribosomal protein genes. It is characterized by failure of red blood cell production, and common features include congenital malformations and cancer predisposition. Mainstays of treatment are corticosteroids, red blood cell transfusions, and hematologic stem cell transplantation (HSCT).
View Article and Find Full Text PDFTolosa-Hunt Syndrome: A Review of Diagnostic Criteria and Unresolved Issues.
J Curr Ophthalmol
July 2021
Guru Nanak Eye Centre, Department of Ophthalmology, Maulana Azad Medical College, New Delhi, India.
Purpose: To review the diagnostic criteria for Tolosa-Hunt syndrome (THS) and utility of recent modifications.
Methods: We searched PubMed for keywords Tolosa Hunt and magnetic resonance imaging. We compared the three editions of International Classification of Headache Disorders and isolated case reports and case series with the assessment of cavernous internal carotid artery (ICA) caliber to find the prevalence of vascular anomalies.
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
J Neurol Neurosurg Psychiatry
November 2021
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
Background: We used a multimodal approach including detailed phenotyping, whole exome sequencing (WES) and candidate gene filters to diagnose rare neurological diseases in individuals referred by tertiary neurology centres.
Methods: WES was performed on 66 individuals with neurogenetic diseases using candidate gene filters and stringent algorithms for assessing sequence variants. Pathogenic or likely pathogenic missense variants were interpreted using in silico prediction tools, family segregation analysis, previous publications of disease association and relevant biological assays.
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