Results 211 to 220 of about 4,020,968 (269)

Body mass index, not local adiposity, best predicts surgical site infection following surgical fixation of distal femur fractures. [PDF]

Eur J Orthop Surg Traumatol
Rust BD, Pereira DE, Barton DW, Obey MR, McAndrew CM, Berkes MB, Wilson JL.   +6 more
europepmc   +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

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

Topological metrics as evolutionary and dynamical descriptors of conformational landscapes within protein families. [PDF]

PLoS Comput Biol
Ramesh N, Ozkan SB, Panagiotou E.
europepmc   +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

Robotic portal right upper lobectomy for second recurrence post-cryoablation. [PDF]

J Surg Case Rep
Shigeta H, Sumiya R, Fukui M, Hayashi T, Matsunaga T, Hattori A, Takamochi K, Suzuki K.   +7 more
europepmc   +1 more source

Local/global visual processing impacts numerosity-magnitude conflict resolution. [PDF]

Sci Rep
Chrétien L, Poirel N, Knops A, Viarouge A.   +3 more
europepmc   +1 more source

Ethnobotanical documentation and conservation assessment of medicinal plants used by the Somali community in Karamara forest patches, Eastern Ethiopia. [PDF]

J Ethnobiol Ethnomed
Alemayehu G, Awoke A, Kassa Z.
europepmc   +1 more source

<i>P</i>-adic <i>L</i>-functions for GL ( 3 ). [PDF]

Math Ann
Loeffler D, Williams C.
europepmc   +1 more source

Getting unstuck: reframing health systems strengthening and resilience in fragile and conflict-affected settings. [PDF]

BMJ Glob Health
Truppa C, Saulnier DD, Bertone MP, Yamonn N, Hafez S, Witter S, Marchal B.   +6 more
europepmc   +1 more source