Results 121 to 130 of about 902,077 (295)

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

SIRT1 induces FOXO1/autophagy/NCOA4-induced ferroptosis and accelerates the progression of cerebral infarction by inhibiting the E2F1/NOTCH-1/YAP signaling pathway

Scientific Reports
To access the effect of SIRT1 in cerebral infarction and to explore its mechanism of ferroptosis. Bioinformatic Analysis was used to discover the associations between Ferroptosis-Related Genes and Cerebral Infarction.Rat cerebral infarction model was ...
Gang Wang, Shuyu Ma, Linjie Qi, Jianhua Wang, Ying Zhou, LiJiao Jia, Guang Hao, Zuopeng Li   +7 more
doaj   +1 more source

Hyperacute Interleukin‐1β Production and Neutrophil Extracellular Trap Formation in the Cerebral Circulation of Stroke Patients with Large Vessel Occlusion

Annals of Neurology, EarlyView.
Acute ischemic stroke due to large vessel occlusion is associated with rapid intravascular immune activation. Analysis of arterial blood sampled distal to the thrombus during mechanical thrombectomy revealed increased extracellular adenosine triphosphate (ATP) and interleukin‐1β (IL‐1β) levels, evidence of inflammasome priming in monocytes, and ...
Justine Münsterberg, Caspar Brekenfeld, Hanna Englert, Marius Piepke, Regine J. Dress, Martin Oertel, Tina Fischer, Romy Hackbusch, Mingming Zha, Haodi Cai, Christian Casar, Ines S. Schädlich, Leo Winter, Alina Jander, Karoline Degenhardt, Maxim Bester, Fabian Flottmann, Uta Hanning, Brigitte Holst, Anna Worthman, Johanna Hiefner, Berenike Rutz, Eckhard Schlemm, Götz Thomalla, Bettina H. Clausen, Ann M. Stowe, Immo Prinz, Thiruma V. Arumugam, Markus Glatzel, Thomas Renné, Jens Fiehler, Eva Tolosa, Tim Magnus, Mathias Gelderblom   +33 more
wiley   +1 more source

Regional and Compartmental Changes Drive Progressive Patterns of Striatal Degeneration in X‐Linked Dystonia Parkinsonism

Annals of Neurology, EarlyView.
Objective Initially described in 1976, X‐linked dystonia parkinsonism (XDP) is a neurodegenerative disease that can be characterized by the presentation of dystonia and parkinsonism symptoms. Although this disease bears some resemblance to other neurodegenerative diseases in terms of symptomatology, the pathological signature of XDP is still unclear ...
Adelie Y.S. Tan, Nakhon. S.S.S. Thai, Christine J. Arasaratnam, Seung A. Han, Ellen B. Penney, Geraldine Acuña‐Sunshine, Cid Czarina E. Diesta, Mark C. Ang, Edwin Muñoz, Cara Fernandez‐Cerado, Victor Cleofas, G. Paul Legarda, Salvie Velasco, Michelle A. Sy, Clinton P. Turner, Mike Dragunow, Maurice A. Curtis, Ann. M. Graybiel, Richard L.M. Faull, Malvindar K. Singh‐Bains   +19 more
wiley   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Blood pressure in relation to the incidence of cerebral infarction and intracerebral Hemorrhage - Hypertensive hemorrhage: Debated nomenclature is still relevant [Elektronisk resurs]

, 2007
Background and Purpose - Data regarding the association between blood pressure level and incidence of stroke subtype, especially primary intracerebral hemorrhage (PICH) subtypes, is sparse.
Pessah-Rasmussen, Hélène,, Zia, Elisabet,, Engström, Gunnar,, Hedblad, Bo,, Berglund, Göran,, Janzon, Lars,, Lund University.   +6 more
core   +1 more source

Acute toxicity of ADB‐CHMINACA ‐ a case series of patients with pronounced central nervous symptoms including the posterior reversible encephalopathic syndrome

British Journal of Clinical Pharmacology, EarlyView.
Aim This report presents a series of 16 patients who were admitted to the emergency department following confirmed intake of the potent synthetic cannabinoid ADB‐CHMINACA. Methods The cases are drawn from a prospective observational study following the recreational use of synthetic cannabinoids.
Maren Hermanns‐Clausen, Michaela Sommer, Annette Zschiesche, Verena Angerer, Martin Scheu, Florian Eyer, Johannes Nadler, Volker Auwärter   +7 more
wiley   +1 more source

Hemodynamic changes in progressive cerebral infarction: An observational study based on blood pressure monitoring. [PDF]

Progressive cerebral infarction (PCI) is a common complication in patients with ischemic stroke that leads to poor prognosis. Blood pressure (BP) can indicate post-stroke hemodynamic changes which play a key role in the development of PCI.
Bin Wu MM, Haipeng Liu PhD, Ling Li MB, Gary Tse PhD, Jie Xu MM, Fangyu Dai MM, Songbin He MM, Jiaoxuan Dong MM   +7 more
core  

Mobile health interventions to improve adherence to oral anticoagulant treatment: A systematic review and critical analysis

British Journal of Clinical Pharmacology, EarlyView.
Aims Non‐adherence to oral anticoagulants (OACs) is associated with significant morbidity and mortality. Mobile health (mHealth) interventions have been used to improve medication adherence across the three phases of initiation, implementation and persistence.
Non Davies, Elin Haf Davies, Dyfrig A. Hughes   +2 more
wiley   +1 more source

Emerging adults with cerebral palsy : their stories from their perspective

, 2009
Background: Emerging adulthood has been identified as a unique developmental stage within developed countries. Generally associated with ages 18–25, emerging adulthood is seen as a time of identity exploration, instability, self focus, a sense of feeling
Cusick, Anne (R7537), Novak, Iona, Bye, Rosalind A. (R7363), Ison, Nicole L. (R18452)   +3 more
core