Results 241 to 250 of about 808,049 (434)

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Ethical Dilemmas in Plastic Surgery: Insights From a Survey Study in Saudi Arabia. [PDF]

Plast Reconstr Surg Glob Open
Arkoubi AY, Jefri ZE, Aldaghri FA, Obeid FM, Almodumeegh AS, Alhadlaq A, Daghistani WA, Mortada H.   +7 more
europepmc   +1 more source

Caribou Hunters at the Crossing Place (30 min.), Autumn River Camp, I (25 min.), Autumn River Camp, II (32 min.), Winter Sea Ice Camp, I (33 min.), and Winter Sea Ice Camp, III (30 min.). Photographed 1963–1965, produced by Quentin Brown, with Asen Balikci and Guy Mary‐Rousseliére as consultants [PDF]

, 1970
John J. Honigmann
openalex   +1 more source

The burden of intracranial atherosclerosis on cerebral small vessel disease: A community cohort study

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Exploring the prevalence and association between intracranial atherosclerosis (ICAS) and cerebral small vessel diseases (CSVD), this study delved beyond the current scope, utilising high‐resolution vessel wall MRI (HRVW‐MRI) to investigate how subtle changes in intracranial atherosclerotic features influence the various burdens of ...
Joseph Amihere Ackah, Heng Du, Wenjie Yang, Huixing Zeng, Jason Tsz Lok Chan, Michael Lung Cheung Lo, Xiangyan Chen   +6 more
wiley   +1 more source

Author Correction: Transforming healthcare through just, equitable and quality driven artificial intelligence solutions in South Asia. [PDF]

NPJ Digit Med
Adhikari S, Ahmed I, Bajracharya D, Khanal B, Solomon C, Jayaratne K, Mamum KAA, Talukder MSH, Shakya S, Manandhar S, Memon ZA, Chowdhury MH, Ul Islam I, Rakhshani NS, Khan MI.   +14 more
europepmc   +1 more source

Capturing what matters: Patient‐reported LGI1‐ANTibody encephalitis outcome RatiNg scale (LANTERN)

Annals of Clinical and Translational Neurology, Volume 12, Issue 4, Page 821-831, April 2025.
Abstract Background LGI1‐antibody encephalitis (LGI1‐Ab‐E) is a common form of autoimmune encephalitis where most patients demonstrate ‘good’ clinician‐rated outcomes. However, more targeted questionnaires reveal numerous debilitating symptoms for many years.
Mark J Kelly, Barbara Wagner, Bryan Ceronie, Christine Strippel, Ann Yee Lin, Adam Handel, John Soltys, Sophie Binks, Philip A Powell, Sarosh R Irani   +9 more
wiley   +1 more source

User perceptions of surgical antimicrobial prophylaxis guidelines in orthopaedic surgery in a tertiary Australian hospital. [PDF]

PLoS One
Hassan S, Chan V, Stevens JE, Stupans I, Gentle J.   +4 more
europepmc   +1 more source

Amygdala Neurodegeneration: A Key Driver of Visual Dysfunction in Parkinson's Disease

Annals of Clinical and Translational Neurology, Volume 12, Issue 4, Page 768-779, April 2025.
ABSTRACT Objective Visual disability in Parkinson's disease (PD) is not fully explained by retinal neurodegeneration. We aimed to delineate the brain substrate of visual dysfunction in PD and its association with retinal thickness. Methods Forty‐two PD patients and 29 controls underwent 3‐Tesla MRI, retinal spectral‐domain optical coherence tomography,
Asier Erramuzpe, Ane Murueta‐Goyena, Antonio Jimenez‐Marin, Marian Acera, Sara Teijeira‐Portas, Rocío Del Pino, Tamara Fernández‐Valle, Ibai Diez, Unai Sainz‐Lugarezaresti, Naroa Ibarretxe‐Bilbao, Unai Ayala, Maitane Barrenechea, Alberto Cabrera‐Zubizarreta, Jesús Cortés, Juan Carlos Gómez‐Esteban, Iñigo Gabilondo   +15 more
wiley   +1 more source

Correction: Noise in operating theatres, is it safe? [PDF]

Arch Orthop Trauma Surg
Ayoola M, Abelleyra Lastoria DA, Casey L, Dardak S, Rupra R, Khamis A, Blanca Hing C, Radcliffe S, Kellett C.   +8 more
europepmc   +1 more source

A Code of Ethics for Health Care Ethics Consultants: Journey to the Present and Implications for the Field

American Journal of Bioethics, 2015
A. Tarzian, L. Wocial, The ASBH Clinical Ethics Consultation Affairs Comm   +2 more
semanticscholar   +1 more source