Results 61 to 70 of about 20,251 (253)

An n‐of‐1 gene‐directed drug repurposing trial for an ultrarare genetic condition

Epilepsia, EarlyView.
Abstract Objective Gain‐of‐function (GoF) variants in the KCNC1 potassium channel subunit gene (Kv3.1) cause motor/cognitive delays and hypotonia and have been associated with seizures. Fluoxetine has inhibitory effects on Kv3.1. However, open‐label nonrandomized administration is insufficient to guide clinical decision‐making in ultrarare conditions ...
Vedika Jha, Christina Tsetsos, Mark Bedford, Gregory Costain, Sunita Vohra, Juan Pablo Diaz Martinez, Elise Heon, Jacob Vorstman, Carolina Gorodetsky, Ajoy Vincent, Jesiqua Rapley, Lori Anderson, Evdokia Anagnostou, Danielle A. Baribeau   +13 more
wiley   +1 more source

Clinical analysis on canal conversion of otolith in the treatment of geotropic nystagmus horizontal semicircular canal benign proxysmal positional vertigo by Barbecue maneuver

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To explore the correct diagnosis and treatment of canal conversion of otolith in the treatment of geotropic nystagmus horizontal semicircular canal benign paroxysmal positional vertigo (BPPV) by Barbecue maneuver. Methods and Results There were
Juan-juan GENG, Hui-e HUANG, Chi ZHANG, Yong CUI   +3 more
doaj  

Intracranial chordoma presenting as acute hemorrhage in a child: Case report and literature review [PDF]

, 2015
BACKGROUND: Chordomas are rare, slow-growing malignant neoplasms derived from remnants of the embryological notochord. Pediatric cases comprise only 5% of all chordomas, but more than half of the reported pediatric chordomas are intracranial.
Abdulkader, Marwah M., Ackerman, Laurie L., Bohnstedt, Bradley N., Bonnin, Jose M., Kralik, Stephen F., Moore, Kenneth A., Shah, Mitesh V., Shah, Sanket U., Shaikh, Kashif   +8 more
core   +2 more sources

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Phenytoin-induced cerebellar atrophy: A case for reversibility of neurological decline

Radiology Case Reports
This case serves as a reminder of the infrequent, yet consequential occurrence of cerebellar degeneration linked to phenytoin usage. Whilst emphasizes the importance of monitoring patients on long-term phenytoin therapy, and it further suggests ...
Edwin Mogere, Davis Cheruiyot, Manakhe Nassiuma   +2 more
doaj   +1 more source

Objective appraisal of tolerance to ventriculography with various radiocontrast media (according to electronystagmography data) [PDF]

The vestibulo oculomotor reflex (nystagmus) was recorded by means of electronystagmography in 33 neurosurgical patients in dynamics prior to and after ventriculography.
Blagoveshchenskaya, N. S., Puchkov, V. L.   +1 more
core   +1 more source

Hodgkin's Lymphoma and Paraneoplastic Phenomena in the Central Nervous System : A Case Report and Review of the Literature [PDF]

, 2011
A 25-year-old male patient presented to our Ear, Nose and Throat clinic with a history of nausea, vomiting, headache, vertigo and weight loss of 5 kg over the preceding 3 months. An enlarged cervical lymph node was detected at clinical examination. Lymph
Vetter, Marcus, Tzankov, Alexandar, Engert, Andreas, Mehling, Matthias, Herrmann, Richard, Rochlitz, Christoph   +5 more
core   +2 more sources

Otitis in pet guinea pigs: Causes, clinical signs, treatment and outcomes

Veterinary Record, EarlyView.
Abstract Background Otitis is a major disease impacting both pet guinea pigs and laboratory guinea pigs that are used as models in human otological studies. Methods Medical records from two veterinary clinics were retrospectively reviewed to identify guinea pigs diagnosed with computed tomography (CT)‐confirmed otitis between 2014 and 2023.
Patricia Muffat‐es‐Jacques, Mathilde Charrasse, Paul Raymond, Minh Huynh, Thomas Coutant, Charly Pignon   +5 more
wiley   +1 more source

Clinical reasoning in feline non‐ambulatory tetraparesis or tetraplegia: Which combination of clinical information is useful?

Veterinary Record, EarlyView.
Abstract Background Non‐ambulatory tetraparesis or tetraplegia in cats may constitute a diagnostic challenge for general practitioners. Therefore, this study aimed to evaluate if clinical variables from signalment, history, clinical examination and basic ancillary tests are associated with underlying diagnoses in cats with non‐ambulatory tetraparesis ...
Guido Bertoldi, Steven De Decker
wiley   +1 more source

Preliminary analysis of diagnosis and treatment for positional vertigo with invalid maneuver and negative MRI

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To analyze the types and characteristics of nystagmus in patients with positional vertigo who were ineffective by particle repositioning maneuver (PRM) and had negative findings in MRI, and try to explore drug treatment and prevention programme.
Fei LI, Hai-yan LI, Ying CHEN, Huan-huan GU, Xiao-wen ZHOU, Bo GAO, Chen-yong SHAHG, Jian-hua ZHUANG   +7 more
doaj