Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.7748/ns.28.52.32.s38 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The enigmatic figure of Leon Pierce Clark and his contribution to epilepsy.
Epilepsia Open
May 2023
UCL Queen Square Institute of Neurology, University College London, London, UK.
Leon Pierce Clark (1870-1933) was a prominent American neurologist and psychiatrist and an enigmatic figure. He made enduring contributions to status epilepticus and to epilepsy. In the 1910s and 1920s, his chief focus was on the psychological mechanisms of epilepsy and on the personality of those with idiopathic epilepsy which he interpreted from a psychoanalytical perspective.
View Article and Find Full Text PDFA novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome.
Mol Genet Genomic Med
August 2019
Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Background: The ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X-linked genodermatosis characterized by noninflammatory spiny follicular hyperkeratosis, severe photophobia, and non-scarring alopecia with variable severities. IFAP syndrome results from mutations in the gene encoding the membrane-bound transcription factor peptidase, site 2 (MBTPS2).
Methods: We present an 11-year-old male with typical clinical features of IFAP syndrome, including diffuse follicular hyperkeratosis, alopecia, photophobia, psoriasiform plaques, short statue, nail dystrophy, mental retardation, and seizures.
On behalf of myself and the Mary Seacole Memorial Statue Appeal's Trustees, thanks for your help and support in achieving our dream of a fitting monument to Mary Seacole.
View Article and Find Full Text PDF[Tetrasomy 18p syndrome and hearing loss. An unusual case].
HNO
October 2012
Klinik und Poliklinik für Phoniatrie und Pädaudiologie, Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, 30625, Hannover, Deutschland.
Tetrasomy 18p is a rare chromosomal disease (1:140,000 live births), which affects females and males equally, and might be hereditary or caused by spontaneous changes (de novo formation) within the chromosome. The phenotype results from the presence of a small extra metacentric marker chromosome, an isochromosome 18p. The syndrome is characterized by mild-to-moderate mental retardation, poor language acquisition, seizures, microcephaly, short statue, minor facial dysmorphic features, congenital heart diseases, uro/renal malformations, abnormal muscle tone, spasticity of the lower limbs, and delayed ability to stand and walk.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!