Results 221 to 230 of about 402,861 (290)

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Pipeline evaluation of a state-of-the-art AI algorithm for detection of focal cortical dysplasia: insights into potential failure sources. [PDF]

Brain Inform
Esmeraldo MA, Chambers S, Kravutske Y, Reis EP, Kasprian G, Geraldo AF, Gatidis S, Soares BP.   +7 more
europepmc   +1 more source

Diffuse cranial vault hyperostosis associated with long‐term antiepileptic therapy: Autopsy findings and differential diagnostic considerations

Journal of Forensic Sciences, Volume 71, Issue 6, Page 2981-2986, November 2026.
Abstract Diffuse cranial vault hyperostosis is an uncommon finding and may present a diagnostic challenge in clinical and forensic practice. We report the case of a 53‐year‐old woman with a long‐standing history of epilepsy treated with phenytoin and sodium valproate who collapsed at home suddenly and died despite resuscitative efforts.
Maria Piagkou, Athina Tousia, George Triantafyllou, Dimitrios Vlachodimitropoulos, Samer Al Besher, Panagiotis Manolarakis‐Papadopoulos, Alexandros Samolis, Stavroula Papadodima   +7 more
wiley   +1 more source

The epileptologist's perspective of focal cortical dysplasia type 3: From concept to management. [PDF]

Epilepsia
Palmini A, Oliveira F, Paglioli E, Sarnat H, Paganin R, Soder R, Martins W, Paglioli R, Frigeri T, Schuh F, Zarpellon V.   +10 more
europepmc   +1 more source

Limbal cystotomy by fine needle aspiration of a translucent iris cyst in a horse

Equine Veterinary Education, Volume 38, Issue 11, Page e784-e789, November 2026.
Summary A 4‐year‐old Cremello crossbred mare was referred to the Equine Veterinary Teaching Hospital of Utrecht University for a translucent iris cyst from the dorsal pupillary margin corpora nigra in the right eye. Although noninvasive diode laser treatment is the preferred method of pigmented cyst ablation, two attempts did not result in disruption ...
A. L. Hendrikx, S. Veraa, J. P. A. M. van Loon, H. Hermans, I. J. M. Slenter, E. M. S. Visser   +5 more
wiley   +1 more source

Alterations in dopaminergic innervation and receptors in focal cortical dysplasia. [PDF]

Brain
Meli N, Sheran K, Pitsch J, Krabbe S, Borger V, Baumgartner T, Becker A, Blaess S.   +7 more
europepmc   +1 more source

Robotic‐Arm Assisted Direct Anterior Approach Total Hip Arthroplasty Facilitates Tensor Fasciae Latae Preservation and Early Functional Recovery in Obese Patients

Orthopaedic Surgery, Volume 18, Issue 11, Page 2463-2479, November 2026.
In obese patients undergoing DAA‐THA, RA technology significantly reduced intraoperative injury to TFL. This muscle preservation effect was significantly associated with attenuated early postoperative inflammation, lower pain levels, and faster functional recovery.
Shijie Chen, Dasheng Lin, Huihuang Chen, Wentao Lin, Dongmin Xu, Eryou Feng   +5 more
wiley   +1 more source

Beyond mTOR: Unraveling the Complex Pathophysiology and Signaling Pathways in Focal Cortical Dysplasia. [PDF]

Mol Neurobiol
Yang K, He Y, Leng J, Lu T, Wang Y, Xie K, Song T, Zhong C, Zhang L.   +8 more
europepmc   +1 more source

Clinical, Radiologic, and Pathologic Associations of Executive Dysfunction in Children With Focal Cortical Dysplasia-Related Epilepsy. [PDF]

Neurology
Cohen NT, Xie H, Illapani VSP, Leikin SM, Li X, Chaza AM, Hooker C, Vezina LG, Oluigbo CO, Loblein HJ, Gaillard WD, Sepeta LN, Berl MM.   +12 more
europepmc   +1 more source

Comparing thalamic volumes between focal cortical dysplasia patients and healthy individuals. [PDF]

Am J Neurodegener Dis
Bahrami M, Hekmatnia A, Mehvari-Habibabadi J, Sourani A, Ramezani N, Azizollahi S.   +5 more
europepmc   +1 more source