Results 121 to 130 of about 1,024,120 (317)

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

New variant in the FBXL4 gene – leading to mitochondrial DNA depletion syndrome

Journal of Pediatric and Neonatal Individualized Medicine
Defects in the mitochondrial DNA (mtDNA) cause mtDNA depletion syndrome (MTDPS), a subclass of mitochondrial disorders that are genetically and phenotypically heterogeneous.
Carolina Ferreira Gonçalves, Patrícia Lipari Pinto, Ana Raquel Claro, Joana Coelho, Sofia Quintas, Márcia Rodrigues, Paula Costa, Ana Margalha Miranda, Mónica Rebelo, Célia Nogueira, Patrícia Janeiro, Ana Gaspar   +11 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Rheumatological manifestations of H syndrome

H syndrome (HS) is a rare autosomal recessive genodermatosis characterised by cutaneous hyper­pigmentation, hypertrichosis, sclerodermatous thickening, and multisystemic involvement.
Latifa Tahiri, Sara Cherkaoui Dekkaki, Honsali Rahma, Fadoua Allali   +3 more
core   +1 more source

Efficacy of Intermittent Theta‐Burst Stimulation for Prolonged Disorders of Consciousness: A Prospective, Randomized, Controlled Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu, Jun Hu, Qianqian Wu, Min Wu, Yamei Yu, Hangcheng Li, Jian Gao, Jingqi Li, Nai Ding, Jie Yu, Benyan Luo   +10 more
wiley   +1 more source

Extra-Articular Manifestations of Rheumatoid Arthritis, Now

, 2014
Rheumatoid arthritis (RA) is a chronic systemic inflammatory disease, characterised by polyarthritis and extra-articular organ disease, including rheumatoid nodules, ophthalmologic manifestations, cardiopulmonary disease, vasculitis, neuropathy ...
Paloma Vela
core  

Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen, Ya‐Ting Chang, Levinia Lim, Pai‐Yi Chiu, Jung‐Lung Hsu, SangYun Kim, Wataru Narita, Na Young Ryoo, Kyoko Suzuki, Nagaendran Kandiah, Sebastian Crutch, Ming‐Chyi Pai   +11 more
wiley   +1 more source

Skin manifestations in microscopic polyangiitis

, 2014
Microscopic polyangiitis is a pauci-immune necrotizing small- and medium-vessel vasculitis mainly involving the lung and kidneys but also the peripheral nerves and skin. A variety of skin lesions are observed in about half of patients.
Pipitone N., Salvarani C., Hunder G. G.
core   +1 more source

A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai, Sen Zhang, Haipei Zhang, Yating Zhang, Junhong Guo, Xiaoyan Yang   +5 more
wiley   +1 more source

Location‐Specific Hematoma Volume Predicts Early Neurological Deterioration in Supratentorial ICH

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Early neurological deterioration (END) adversely affects outcomes in patients with intracerebral hemorrhage (ICH). This study aimed to determine the location‐specific hematoma volumes for END in supratentorial ICH patients. Methods We retrospectively analyzed supratentorial ICH patients presenting from two prospective cohorts.
Zuoqiao Li, Guilin Meng, Zijie Wang, Xiao Hu, Jing Cheng, Chu Chen, Tiannan Yang, Jiaxin Luo, Zizhen Meng, Xueyun Liu, Qi Li   +10 more
wiley   +1 more source