Results 51 to 60 of about 24,316 (245)

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

Postdural puncture subdural hematoma or postdural puncture headache?: two cases report [PDF]

Korean Journal of Anesthesiology, 2015
Spinal anesthesia is widely used for many obstetric, gynecological, orthopedic, and urological operations. Subdural hematomas may occur after trauma and are associated with high morbidity and mortality rates.
Aydemir Kale, Hakan Emmez, Özcan Pişkin, Emre Durdağ   +3 more
doaj   +1 more source

Concomitant chronic subdural hematomas and arachnoid cysts in young adults [version 3; peer review: 2 approved, 1 not approved]

F1000Research, 2022
Objective: This study aimed to evaluate the correlation between arachnoid cysts and chronic subdural hematomas in young adults. Methods: This retrospective study evaluated ten patients having concomitant chronic subdural hematomas and arachnoid cysts ...
Emrah Akcay, Huseyin Berk Benek
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Transforming Brain Health With Neurotechnology Convergence (Part II): Intelligent Neurointervention Systems for Neurological Disorders

Brain Health, EarlyView.
ABSTRACT Neurological disorders represent a critical domain within global health, necessitating advanced interventions to address complex pathologies such as tumors, functional disorders, and cerebrovascular diseases. Despite the proven benefits of early intervention, current treatment paradigms face significant challenges: (1) limited precision in ...
Qing Ye, Fei Peng, Chao Pan, Ping Zhang, Xuewei Xie, Zixiao Li, Yingxin Tang, Danyang Chen, Yuanwei Li, Jiawen Wu, Zao Han, Qing Dai, Quansheng Gu, Jizong Zhao, Zhouping Tang   +14 more
wiley   +1 more source

Traumatic retroclival subdural hematoma: case report and a review of the literature

The Pan African Medical Journal, 2020
Traumatic retroclival subdural hematoma is a rare entity that is more prevalent in the paediatric population. We managed a 3-year-old female with traumatic retroclival subdural hematoma.
Adefisayo Ayoade Adekanmbi, Augustine Abiodun Adeolu   +1 more
doaj   +1 more source

Chronic subdural hematoma: a case report and review of the literature [PDF]

Romanian Journal of Neurology, 2014
Chronic subdural hematoma is a common type of intracranial hemorrhage with higher incidence and unpredictable evolution among elderly people. We present the case of a 73 years old male patient, diagnosed in October 2013 with subacute bilateral subdural ...
Ana-Maria Vladila, Dan-Andrei Mitrea, Sanda Nica, Georgiana Pavel, Gabriela Mihailescu, Ioan Buraga, Doru Baltateanu   +6 more
doaj   +1 more source

Interhemispheric Subdural Hematoma [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1987
Abstract:Although relatively uncommon, interhemispheric subdural hematoma (ISDH) occurs more frequently than was suspected before the advent of computerized tomographic (CT) scanning. When its mass is sufficiently large to compress the medial cerebral hemisphere, specific focal neurological abnormalities may occur.
N A, Russell, R, del Carpio-O'Donovan, K B, Mallya, B G, Benoit, G, Belanger   +4 more
openaire   +2 more sources

Global Trends and Advances in Traumatic Brain Injury

Brain Health, EarlyView.
ABSTRACT Traumatic brain injury (TBI) remains a major global public health challenge, contributing substantially to morbidity and mortality while imposing a significant socioeconomic burden. In recent years, notable progress has been made in understanding TBI pathophysiology, classification, monitoring, and treatment.
Yuan Zhuang, Xixian Liao, Jiyao Jiang, Guoyi Gao   +3 more
wiley   +1 more source

A guide to neuromodulation in drug‐resistant epilepsy

Epileptic Disorders, EarlyView.
Abstract Neuromodulation is approved for the treatment of drug‐resistant epilepsy. It has been increasingly utilized over the past two decades with the approval of deep brain stimulation (DBS) and responsive neurostimulation (RNS) in addition to vagus nerve stimulation (VNS)—particularly in patients who are not deemed to be good resective surgical ...
Prachi Parikh, Irena Dolezawa, Manu Hegde, Lukas Imbach, Brian N. Lundstrom, Francesca Pizzo, Vikram R. Rao, Jaysingh Singh, Derek Southwell, Satsuke Watanabe, Birgit Frauscher   +10 more
wiley   +1 more source