Results 61 to 70 of about 4,331 (188)

Cerebellar and brainstem infarction secondary to basilar artery dolichoectasia [PDF]

Romanian Journal of Neurology, 2019
Vertebrobasilar dolichoectasia (VBD) is a rare condition characterized by a significant dilation, elongation and tortuosity of the arteries emerging from the vertebrobasilar system.
Anca Motataianu, Laura Barcutean, Ioana Gherman, Smaranda Maier, Zoltan Bajko, Adrian Balasa   +5 more
doaj   +1 more source

Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants

Arthritis &Rheumatology, Volume 78, Issue 3, Page 734-742, March 2026.
Objective Deficiency of adenosine deaminase 2 (DADA2) is a monogenic autoinflammatory disease manifested as polyarteritis nodosa, stroke, and bone marrow failure. Leveraging an international cohort of 200 DADA2 cases, we aimed to characterize the diagnostic utility of a plasma ADA2 enzyme activity assay and understand the implications of residual ADA2 ...
Jian Yue, Courtney E. LeSon, Casey A. Rimland, Kailey Brodeur, Rachel Weng, Evan E. Hsu, Michael T. Lam, Manpreet Meyer, Seigo Okada, Andrew L. D. Hsu, Musaab A. Alhezam, Megan M. Perron, Olha Halyabar, Fatma Dedeoglu, Peter A. Nigrovic, Akiko Shimamura, R. Grant Rowe, Megan A. Cooper, Tiphanie P. Vogel, Miriah Gillispie‐Taylor, Rosemary Peterson, Clara Lin, Katherine D. Nowicki, Kaylee Dollerschell, Taizo A. Nakano, Roxane Labrosse, Alexis‐Virgil Cochino, Andreea Ioan, Leonardo Oliveira Mendonca, Samar Freschi Barros, Jorge Kalil, Javier Perez‐Rojas, Alicia Diaz‐Kuan, Eric S. Sobel, Taha Moussa, Samuel Shang Ming Lee, Li Wearn Koh, Archana Khan, Sodality Sutnga, Raju Khubchandani, Walaa Shoman, Yasmine El Chazli, Benzeeta Pinto, Chengappa Kavadichanda, Roshini S. Abraham, Xiangwei Sun, Qing Zhou, Gsrsnk Naidu, Aman Sharma, Carl Esperanzate, Daniel L. Kastner, Ivona Aksentijevich, Susan J. Kelly, Michael Hershfield, Teresa K. Tarrant, Pui Y. Lee   +55 more
wiley   +1 more source

Behavioral Phenotype and Neuropsychological Profile of an Adult With Smith‐Magenis Syndrome due to a Previously Unreported RAI1 Mutation: A Case Report

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Smith‐Magenis Syndrome (SMS) is an uncommon genetic disorder caused by microdeletions of chromosome 17p11.2 including the RAI1 gene, or loss‐of‐function mutations that directly affect RAI1. Due to the involvement of RAI1 in neurodevelopment, SMS leads to typical pathologic features in the behavioral and physical phenotype that must be ...
Edgar Andrés Chavarría‐Martínez, Julen Arellano‐Sandúa, Ruth Arias‐Hidalgo, Ana Patiño‐García, Adrián Cano‐Prous   +4 more
wiley   +1 more source

Síndrome de Sneddon, anticardiolipinas y embarazo. Presentación de un caso

, 2021
Se presenta un caso de livedo reticularis y enfermedad cerebro vascular (síndrome de Sneddon) quien posee historia de pérdidas fetales recurrentes y anticuerpos anticardiolipinas positivos.A case of livedo reticularis and cerebral vascular ...
Gutiérrez C., Ylse B., Morantes, Dras. María E.   +1 more
core   +1 more source

Effect on Dyskinesia of the Early Combination of Amantadine to Levodopa‐Therapy in Parkinson's Disease: A Randomized, Placebo‐Controlled Study (PREMANDYSK)

Movement Disorders, Volume 41, Issue 3, Page 729-740, March 2026.
Abstract Objective Investigate the efficacy of immediate‐release (IR) amantadine in reducing the risk of peak‐dose dyskinesia in early Parkinson's disease (PD) as add‐on to levodopa. Background While the use of amantadine to manage dyskinesia in PD is well supported by controlled clinical trials, data on its efficacy in patients without motor ...
Olivier Rascol, Fabienne Ory‐Magne, Wassilios G. Meissner, David Maltête, Luc Defebvre, Jean‐Philippe Azulay, Stéphane Thobois, Jean‐Luc Houeto, Claire Thalamas, Agnès Sommet, Christian Geny, Philippe Damier, Mathieu Anheim, Ana Marquès, François Viallet, Maurice Giroud, Romain Lefaucheur, Guillaume Costentin, Umberto Spampinato, Alexandra Samier‐Foubert, Nicolas Carrière, Eugénie Mutez, Louise‐Laure Mariani, Alexandre Eusebio, Stéphane Prange, Isabelle Benatru, Mahmoud Charif, Christine Brefel‐Courbon, Margherita Fabbri, Monique Galitzky, Vanessa Rousseau, Amandine Saubion, Hélène Catala, Joaquim J. Ferreira, David J. Burn, Jean‐Christophe Corvol, on behalf of the PREMANDYSK Study Group, Olivier Rascol, Fabienne Ory‐Magne, Claire Thalamas, Jean‐Christophe Corvol, Luc Defebvre, Wassilios G Meissner, David Maltête, Jean‐Philippe Azulay, Jean‐Luc Houeto, Stéphane Thobois, François Viallet, Alexandra Samier‐Foubert, Umberto Spampinato, Thomas Boraud, François Tison, Franck Durif, Ana Marques, Bérengère Debilly, Stéphane Bernard, Maurice Giroud, Nicolas Carrière, Eugénie Mutez, Frederic Torny, Philippe Couratier, Oliver Colin, Thomas Gaudin, Pierre Boutet, Emmanuel Broussolle, Stéphane Prange, Cathrine Caire, Hélène Merle, Alexandre Eusebio, Manel Nouira, Christian Geny, Mahmoud Charif, Philippe Damier, Pascal Derkinderen, Mirela Faighel, Violaine Talmant, Severine LeDily, Louise‐Laure Mariani, Lucette Lacomblez, Anne‐Marie Bonnet, Isabelle Benatru, Jean‐Luc Houeto, Solène Ansquer, Emilie Rabois, Anne Fradet, Romain Lefaucheur, Guillaume Costentin, Linda Vernon, Christine Tranchant, Matthieu Anheim, Ouhaid Lagha‐Boukbiza, Thomas Wirth, Agnès Sommet, Vanessa Rousseau, Hélène Catala, Monique Galiztky, Amandine Saubion, Christine Brefel‐Courbon, Margherita Fabbri, Nadéra Ainaoui, Estelle Dellapina, Alexandra Salis, Frédéric Eyvrard, Camille Jurado, Nicolas Boulloche, Jany Rey‐Zermati, Jean Jaques Boulesteix   +106 more
wiley   +1 more source

Atrophie-blanche-Ulzerationen bei Livedo reticularis mit abortiver kongenitaler Poikilodermie

, 1998
ZusammenfassungDie kongenitale Poikilodermie vom Typus Thomson ist ein autosomal rezessiv erbliches Syndrom mit den Kardinalsymptomen Teleangiektasien, Hautatrophien, Hypo- und Hyperpigmentierungen und den Fakultativsymptomen Gynäkotropie, erhöhte ...
Susanne Siedler, Sanja Schuller-Petrovic, P. Grumbach   +2 more
core   +1 more source

Erythema nodosum leprosum presenting as sweet's syndrome-like reaction in a borderline lepromatous leprosy patient

International Journal of Mycobacteriology, 2018
Erythema nodosum leprosum (ENL) is characterized by tender erythematous nodules, accompanied by fever, malaise, arthralgia, and systemic complications.
Nyoman Suryawati, Herman Saputra
doaj   +1 more source

Cryoglobulinemia: An update on classification, pathophysiology, clinical presentation, and management

Journal of Internal Medicine, Volume 299, Issue 2, Page 196-215, February 2026.
Abstract Cryoglobulinemia (CG) is defined by the presence of serum immunoglobulins that precipitate below 37°C and redissolve upon rewarming. It is classified into three types based on immunoglobulin composition. Type I, a rare form, involves monoclonal IgM or IgG and is linked to lymphoproliferative disorders.
Anna Linda Zignego, Laura Gragnani, Marcella Visentini, Riccardo Bomben, Luca Arcaini, Clodoveo Ferri, Valter Gattei, Cesare Mazzaro   +7 more
wiley   +1 more source

Calciphylaxis with Peau D'Orange Induration and Absence of Classical Features of Purpura, Livedo Reticularis and Ulcers

, 2002
Calciphylaxis is an ill‐defined syndrome that is commonly associated with chronic renal failure. Its heterogeneous clinical features include painful livedo reticularis‐like purpuric patches and plaques, vesicles, irregularly shaped ulcers, and black ...
Badiavas, Evangelos, Wilkel, Caroline S, Touma, Dany J, Falanga, Vincent, Nahm, Walter K   +4 more
core   +1 more source

Comprehensive insights of Sneddon syndrome: A clinical perspective

Journal of Central Nervous System Disease
BACKGROUND Sneddon’s syndrome is a rare thrombotic vasculopathy characterized by the coexistence of both cerebrovascular events and livedo reticularis.
Ahmad Yousef Alazzam
doaj   +1 more source