Results 111 to 120 of about 796,111 (314)

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

Functional assesment of patients with AIDS disease

Brazilian Journal of Infectious Diseases
We documented the types and degree of functional disability in 74 patients with AIDS at the Hospital de Clínicas of the Federal University of Paraná, Brazil.
Marise Bueno Zonta, Sérgio Monteiro de Almeida, Mirian T. M. de Carvalho, Lineu César Werneck   +3 more
doaj   +1 more source

Biopsychosocial Factors Affecting Functional Disability and Depression in Patients with Osteoarthritis in Surakarta, Central Java [PDF]

, 2018
Background: Osteoarthritis (OA) is a major cause of disability in the elderly. OA can cause chronic pain, disability, and the patient\u27s quality of life.
Mudigdo, A. (Ambar), Soemanto, R. (RB), Sudaryanto, W. T. (Wahyu)   +2 more
core   +3 more sources

FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee, Jeffrey Lambe, Scott Johnson, Akua Abrah, Jennifer Bullen, Jeffrey A. Cohen, Tatchaporn Ongphichetmetha, Amy Kunchok   +7 more
wiley   +1 more source

EFFICACY OF NEURAL MOBILIZATION ON LOW BACK PAIN WITH S1 RADICULOPATHY

International Journal of Physiotherapy, 2016
Background: A definite conclusion about the effectiveness of neural mobilization on patients with radiculopathy can’t be reached because of the lacks of well designed randomized controlled trials.
Mohamed Taher Mahmoud ELDesoky, Enas ELsayed Mohamed Abutaleb   +1 more
doaj   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth, Mert Sisman, Jinwei Zhang, Hyeong‐geol Shin, Xu Li, Bela Turk, Ali Fatemi, Thanh Nguyen, Eric Mallack   +8 more
wiley   +1 more source

Disability Studies: What’s the Point? [PDF]

, 2003
[Excerpt] While the content of these courses had much to offer in terms of furthering our understanding of the experience of ‘chronic illness’ and the ensuing economic and social outcomes in terms of daily living for disabled people and their families ...
Barnes, Colin
core   +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

Beyond disability-adjusted life years (DALYs) : developing indicators to assess the impact of public health interventions on the lives of people with disabilities [PDF]

This paper proposes two measures for assessing the impact of interventions on the lives of disabled people, the Activity Limitation Score (ALS) and the Participation restriction Score (PRS).
Loeb, Mitchell, Mont, Daniel
core