Results 31 to 40 of about 7,066 (221)

Mutations in a thiaminetransporter gene and Wernicke's-like encephalopathy [PDF]

, 2009
journal ...
Kono, Satoshi, Miyajima, Hiroaki, Shirakawa, Kentaro, Suzuki, Hitoshi, Togawa, Akashi, Yoshida, Kenichi   +5 more
core   +2 more sources

Benign paroxysmal positional vertigo recurrence and persistence Recorrência e persistência da vertigem posicional paroxística benigna

Brazilian Journal of Otorhinolaryngology, 2009
Benign paroxysmal positional vertigo (BPPV) is one of the most common vestibular disorders. AIM: To study the recurrence and persistence of BPPV in patients treated with canalith repositioning maneuvers (CRM) during the period of one year.
Ricardo S Dorigueto, Karen R Mazzetti, Yeda Pereira L Gabilan, Fernando Freitas Ganança   +3 more
doaj   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

Análise da influência do nistagmo espontâneo e pré-calórico na vectoeletronistagmografia Analysis of spontaneous and per caloric nistagmus and its influence in vectonystagmography

Revista CEFAC, 2009
OBJETIVO: verificar a ocorrência do nistagmo espontâneo / pré-calórico, sua direção, cálculo da velocidade angular média e real da componente lenta, sua influência quantitativa e qualitativa nas pro-vas calórica e rotatória em pacientes com sintomas ...
Gisiane Munaro, Pricila Sleifer, Fleming Salvador Pedroso   +2 more
doaj   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Management of labyrinthine fistula in chronic otitis with cholesteatoma: case series. [PDF]

, 2015
Labyrinthine fistula is a complication of ear cholesteatoma that increase the risk of sensorineural hearing loss. The management of the fistula must be done contextually with mastoidectomy by: leaving cholesteatoma matrix over the fistula, or remove the ...
Bennici, E., Binchini, S, Dispenza, F, Mazzola, S, MAZZUCCO, Walter   +4 more
core   +1 more source

Eletronistagmografia versus videonistagmografia Electronystagmography versus videonystagmography

Brazilian Journal of Otorhinolaryngology, 2010
A eletronistagmografia (ENG) e a videonistagmografia (VNG) são métodos de registro dos movimentos oculares, empregados na avaliação dos distúrbios do equilíbrio corporal.
Maurício Malavasi Ganança, Heloísa Helena Caovilla, Fernando Freitas Ganança   +2 more
doaj   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

The Relationship of Motility Problems to Reading Problems [PDF]

, 1972
In summary, the ophthalmologist\u27s role in caring for dyslectic children is simply caring for ocular problems. It is rather easy to separate the ocular defects from the nebulous concepts of dyslexia or learning disability.
McNeer, Keith
core   +1 more source

Characteristics and mechanisms of periodic alternating nystagmus

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Periodic alternating nystagmus (PAN) is a rare, congenital or acquired spontaneous nystagmus. Understanding the characteristics and mechanism of different types of PAN contributes to the recognition of this disease and the level of diagnosis and ...
Fei LI, Gang-gang CHEN
doaj