Results 41 to 50 of about 41,399 (306)

MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form

Molecular Genetics & Genomic Medicine, 2020
Background Hereditary myosin myopathies are a group of rare muscle disorders, caused by mutations in genes encoding for skeletal myosin heavy chains (MyHCs). MyHCIIa is encoded by MYH2 and is expressed in fast type 2A and 2B muscle fibers. MYH2 mutations
Roberta Telese, Serena Pagliarani, Alberto Lerario, Patrizia Ciscato, Gigliola Fagiolari, Denise Cassandrini, Nadia Grimoldi, Giorgio Conte, Claudia Cinnante, Filippo M. Santorelli, Giacomo P. Comi, Monica Sciacco, Lorenzo Peverelli   +12 more
doaj   +1 more source

Hypopituitarism secondary to a pituitary metastasis in a young woman with an invasive breast carcinoma

Clinical Case Reports, 2021
Hypopituitarism secondary to a pituitary metastasis is rare and difficult to diagnose since its symptoms are nonspecific. The presence of visual deficits and nerve palsies should suggest the presence of a pituitary metastasis in a cancer patient.
Ibtissem Oueslati, Sabrina Ayari, Meriem Yazidi, Sofiene Bouali, Nadia Khessairi, Melika Chihaoui   +5 more
doaj   +1 more source

Surgery for Pituitary Tumor Apoplexy Is Associated with Rapid Headache and Cranial Nerve Improvement

Current Oncology, 2022
Pituitary tumor apoplexy (PTA) classically comprises sudden-onset headache, loss of vision, ophthalmoparesis, and decreased consciousness. It typically results from hemorrhage and/or infarction within a pituitary adenoma.
Kevin A. Cross, Rupen Desai, Ananth Vellimana, Yupeng Liu, Keith Rich, Gregory Zipfel, Ralph Dacey, Michael Chicoine, Cristine Klatt-Cromwell, Jonathan McJunkin, Patrik Pipkorn, John S. Schneider, Julie Silverstein, Albert H. Kim   +13 more
doaj   +1 more source

Heroin and diplopia [PDF]

, 2005
Aims: To describe the eye misalignments that occur during heroin use and heroin detoxification and to give an overview of the management of persisting diplopia (double vision) which results from eye misalignment.
Firth, A.Y.
core   +1 more source

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

Brain : a journal of neurology, 2014
Progressive external ophthalmoplegia (PEO) is a canonical feature of mitochondrial disease, but in many patients its genetic basis is unknown. Using exome sequencing, Pfeffer et al.
G. Pfeffer, G. Gorman, H. Griffin, M. Kurzawa-Akanbi, E. Blakely, I. Wilson, K. Sitarz, D. Moore, J. Murphy, C. Alston, A. Pyle, J. Coxhead, B. Payne, G. Gorrie, C. Longman, M. Hadjivassiliou, J. Mcconville, D. Dick, I. Imam, David A. Hilton, F. Norwood, M. Baker, S. Jaiser, P. Yu‐Wai‐Man, M. Farrell, A. McCarthy, T. Lynch, R. Mcfarland, A. Schaefer, D. Turnbull, R. Horvath, Robert W. Taylor, P. Chinnery   +32 more
semanticscholar   +1 more source

Síndrome do ápice orbitário causada por herpes zóster oftálmico: relato de caso e revisão da literatura Herpes zoster ophthalmicus and orbital apex syndrome: case report and literature review

Revista Brasileira de Oftalmologia, 2009
OHerpes Zoster Oftálmico (HZO) decorre da infecção pelo vírus da varicela-zoster que permanece latente no gânglio de Gasser até que seja reativado e comprometa a divisão oftálmica do nervo trigêmeo.
Kenzo Hokazono, Marcelo Oliveira, Frederico Castelo Moura, Mário Luiz Ribeiro Monteiro   +3 more
doaj   +1 more source

The Eye on Mitochondrial Disorders. [PDF]

, 2015
Ophthalmologic manifestations of mitochondrial disorders are frequently neglected or overlooked because they are often not regarded as part of the phenotype.
Daruich, A., Finsterer, J., Zarrouk-Mahjoub, S.   +2 more
core   +2 more sources

Using Whole Genome Sequencing in an African Subphenotype of Myasthenia Gravis to Generate a Pathogenetic Hypothesis

Frontiers in Genetics, 2019
Myasthenia gravis (MG) is a rare, treatable antibody-mediated disease which is characterized by muscle weakness. The pathogenic antibodies are most frequently directed at the acetylcholine receptors (AChRs) at the skeletal muscle endplate.
Melissa Nel, Nicola Mulder, Tarin A. Europa, Jeannine M. Heckmann   +3 more
doaj   +1 more source

To wait for a spontaneous recovery of the third cranial nerve palsy occurring after the coiling of a PcomA aneurysm or to implement surgical treatment? A case report [PDF]

Vojnosanitetski Pregled, 2017
Introduction. In the last two decades a method of endovascular embolization has been imposed as a method of choice in the treatment of unruptured intracranial aneurysms.
Peulić Miodrag, Kovačević Vojin, Miletić-Kovačević Marina, Grujičić Danica   +3 more
doaj   +1 more source

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source