Results 201 to 210 of about 3,571,039 (253)

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

Estimating Future Demand for Dental Prostheses and Workforce Needs in a Dental Care Setting: The Saudi Experience. [PDF]

Int Dent J
Basunbul G, Katib A, Almabadi AA, Shinawi LA.   +3 more
europepmc   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Paramedian Forehead Flap Hair Removal: A Comprehensive Review of Techniques, Timing, Challenges, and Future Directions. [PDF]

Clin Cosmet Investig Dermatol
Lian C, Su Z, Han Y, Liu X, Zhang X.
europepmc   +1 more source

Laced Permanent Magnet Quadrupole Drift Tube Magnets [PDF]

, 1988
B. Feinberg, G. Behrsing, K. Halbach, J. Marks, M. Morrison, D.H. Nelson   +5 more
openalex  

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

Incorporation of seasonal land cover to develop seasonally integrated land cover map for change detection in Dhaka mega City. [PDF]

Sci Rep
Chowdhury MS.
europepmc   +1 more source

Quantifying the Impact of Ocrelizumab on Paramagnetic Rim Lesions in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Paramagnetic rim lesions (PRLs) are a subset of chronic active multiple sclerosis (MS) lesions marked by iron‐laden microglia and macrophages. Ocrelizumab, a monoclonal antibody targeting CD20+ B cells, suppresses acute MS activity, but its effect on PRLs remains unclear. In a longitudinal study of 29 ocrelizumab‐treated patients with at least
Kimberly H. Markowitz, Neha V. Safi, Iliana Pliska‐Bloch, Ulrike W. Kaunzner, Ha Luu, Yi Wang, Thanh D. Nguyen, Sandra Hurtado Rúa, Susan A. Gauthier   +8 more
wiley   +1 more source

Aquatic macroinvertebrate diversity in mosquito larval habitats in São Tomé and Príncipe. [PDF]

PLoS One
Corrêa MJM, Ceita M, Ditter RE, Campos M, Weaving H, Goffinet A, Egan CM, Viegas J, Cornel AJ, Lanzaro GC, Pinto J.   +10 more
europepmc   +1 more source