Results 61 to 70 of about 1,700 (192)

Anesthetic Considerations of Patient with Parry Romberg Syndrome

Case Reports in Clinical Practice, 2018
Parry Romberg syndrome is a rare progressive degenerative disease characterized by unilateral atrophy affecting the skin, connective tissue, muscle, and bone, typically occurs in children and young adults.
Sussan Soltani Mohammadi, Farideh Toorany, Abdolrahim Shahhosseini   +2 more
doaj  

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies [PDF]

, 2016
Epileptic encephalopathies (EEs) are the most clinically important group of severe early-onset epilepsies. Next-generation sequencing has highlighted the crucial contribution of de novo mutations to the genetic architecture of EEs as well as to their ...
Allen, Amy J. LaCroix, Amy L. Schneider, Andrew S. Allen, Annapurna Poduri, Anthony G. Marson, Auvin, Bagnall, Berg, Candace T. Myers, Carvill, Carvill, Carvill, Colton, Damaj, Daniel H. Lowenstein, David Coman, David B. Goldstein, de Ligt, Deepak Gill, Dennis Dlugos, Dimassi, Elliott Sherr, Erin L. Heinzen, Evan E. Eichler, Gemma L. Carvill, Georgina Hollingsworth, Hamdan, Heather C. Mefford, Hino-Fukuyo, Hugo Sampaio, Ingrid E. Scheffer, Jacinta M. McMahon, Jeremy Freeman, Jozef Gecz, Julia E. Saykally, Kim, Kong, Kong, Lynette G. Sadleir, Marina Nikanorova, Mark Corbett, Mark I. Rees, Matthew Zemel, McTague, Mefford, Michael P. Epstein, Michael R. Johnson, Nakamura, Norman Delanty, Papandreou, Patrick Carney, Patrick Cossette, Petrovski, Porreca, Reutens, Rikke S. Møller, Ruben Kuzniecky, Ruth Ottman, Samocha, Samuel F. Berkovic, Seo-Kyung Chung, Shoubridge, Slavé Petrovski, Smith-Packard, Sophie Calvert, Stephen Petrou, Tally Lerman-Sagie, Tanaka, Terence J. O’Brien, Tracy Glauser, William O. Pickrell, Xu   +72 more
core   +1 more source

Localized Abdominal Idiopathic Lipodystrophy [PDF]

, 2008
Localized loss of subcutaneous tissue can occur after panniculitis, injections of corticosteroids and other drugs, or associated with infectious, autoimmune or neurologic diseases.
Feio, A, Serrão, V
core   +1 more source

The cerebellum in epilepsy

Epilepsia, Volume 66, Issue 6, Page 1773-1792, June 2025.
Abstract The cerebellum, a subcortical structure, is traditionally linked to sensorimotor integration and coordination, although its role in cognition and affective behavior, as well as epilepsy, is increasingly recognized. Cerebellar dysfunction in patients with epilepsy can result from genetic disorders, antiseizure medications, seizures, and seizure‐
Christopher Elder, Rebecca Kerestes, Puneet Opal, Maria Marchese, Orrin Devinsky   +4 more
wiley   +1 more source

Diagnostic Utility of Clinical Neurophysiology in Jerky Movement Disorders: A Review from the MDS Clinical Neurophysiology Study Group

Movement Disorders Clinical Practice, Volume 12, Issue 3, Page 272-284, March 2025.
Abstract Background Myoclonus and other jerky movement disorders are hyperkinetic disorders, the diagnosis of which heavily relies on clinical neurophysiological testing. However, formal diagnostic criteria are lacking, and recently the utility and reliability of these tests have been questioned.
Anna Latorre, Christos Ganos, Masashi Hamada, Nicolas Phielipp, Lorenzo Rocchi, Shabbir Merchant, Marina A. Tijssen, Sterre van der Veen, Robert Chen   +8 more
wiley   +1 more source

Trudności diagnostyczne objawów napadowych u chłopca z zespołem Parry'ego-Romberga [PDF]

, 1970
Parry-Romberg syndrome is characterized by progressive unilateral facial atrophy affecting subcutaneous tissue, cartilage and bone structures. Headache attacks and epilepsy are commonly associated with this syndrome but the underlying pathophysiology is ...
Biedroń, Agnieszka, Kaciński, Marek, Steczkowska, Małgorzata, Zając, Anna   +3 more
core   +5 more sources

Comparison of 3D facial photographs and clinical documentation in patients with craniofacial morphea

Skin Health and Disease, Volume 4, Issue 6, December 2024.
Craniofacial morphea (CM) is a rare autoimmune disease characterised by progressive atrophy of the skin and soft tissue of the face, resulting in facial asymmetry. With the involvement of varying practices in the care of patients with CM, consistent documentation of disease location and severity lack standardized evaluation.
Tyler T. Nguyen, Stephanie M. Cohen, Katharina S. Shaw, Fatma Dedeoglu, Ruth Ann Vleugels, Ingrid M. Ganske   +5 more
wiley   +1 more source

Mild Cognitive Impairment as a single sign of brain hemiatrophy in patient with Localized Scleroderma and Parry : Romberg Syndrome [PDF]

, 2016
Neurologic involvement is well recognized in Systemic Scleroderma and increasingly reported in Localized Scleroderma. MRI brain abnormalities are often associated with symptoms such as seizures or headaches. In some cases they may be clinically silent.
Klimiec-Moskal, Elżbieta, Klimkowicz-Mrowiec, Aleksandra   +1 more
core   +4 more sources

Parry–Romberg Syndrome with Uhthoff’s Phenomena: A Spectrum of Autoimmune Disease?

Case Reports in Immunology, 2019
Parry–Romberg syndrome (PRS) is a rare disorder characterized by unilateral facial atrophy. Currently, the pathogenesis of PRS is poorly understood and no definitive treatment is available.
Samuel Asanad
doaj   +1 more source

Sculpting the future: A narrative review of 3D printing in plastic surgery and prosthetic devices

Health Science Reports, Volume 7, Issue 6, June 2024.
Abstract Background and Aims The advent of 3D printing has revolutionized plastic surgery and prosthetic devices, providing personalized solutions for patients with traumatic injuries, deformities, and appearance‐related conditions. This review offers a comprehensive overview of 3D printing's applications, advantages, limitations, and future prospects ...
Muhammad Jawad Zahid, Parit Mavani, Wireko Andrew Awuah, Mohammad Alabdulrahman, Rachana Punukollu, Arnab Kundu, Arpit Mago, Karam Maher, Favour T. Adebusoye, Tehreem Naseer Khan   +9 more
wiley   +1 more source