Results 81 to 90 of about 61,809 (286)

REVERSIBLE HYPERINTENSE DENTATE LESIONS

Journal of Evolution of Medical and Dental Sciences, 2013
1. Associate Professor. Department of Neurology, Sri Aurobindo Medical College and Post Graduate Institute, Indore. 2. Assistant Professor. Department of Radiology, Sri Aurobindo Medical College and Post Graduate Institute, Indore. 3. Senior Resident. Department of Neurology, Sri Aurobindo Medical College and Post Graduate Institute, Indore. 4.
Lekhra O. P, Sonali Jain, Maheshwari A, Rathore Y   +3 more
openaire   +1 more source

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

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

Clinicopathologic Features and Magnetic Resonance Imaging Findings in 24 Cats With Histopathologically Confirmed Neurologic Feline Infectious Peritonitis [PDF]

, 2017
Background: Feline infectious peritonitis (FIP) is the most common infectious central nervous system (CNS) disease in the cat and is invariably fatal. Improved means of antemortem diagnosis is required to facilitate clinical decision making.
Bailey, Bradshaw, Foley, Gruendl, Gunn-Moore, Kipar, Laubner, Marioni-Henry, Milhorat, Negrin, Okada, Pedersen, Pedersen, Pedersen, Rand, Schmidt, Tamke, Tani, Tha, Tha, Thomas, Timmann, Tomek, Wisner   +23 more
core   +1 more source

Diffusion Tensor Imaging Correlates with Short-Term Myelopathy Outcome in Patients with Cervical Spondylotic Myelopathy [PDF]

, 2017
Objective To determine if spinal cord diffusion tensor imaging indexes correlate with short-term clinical outcome in patients undergoing elective cervical spine surgery for cervical spondylotic myelopathy (CSM).
Eckardt, Gerald, Jirjis, Michael B., Kurpad, Shekar N., Rao, Avinash, Schmit, Brian D., Vedantam, Aditya, Wang, Marjorie C.   +6 more
core   +2 more sources

Single‐Cell Atlas of Subchondral Bone Marrow Lesions Reveals Proteostasis Dysfunction as a Druggable Mechanism for Early Osteoarthritis

Advanced Science, EarlyView.
This study reveals that abnormal mechanical stress downregulates the expression of HSP70 and impairs proteasome function in osteoarthritic bone cells, leading to misfolded collagen I accumulation and ER stress. When intracellular proteostasis capacity is exceeded, USP19 mediates the secretion of misfolded proteins into the extracellular space ...
Hailun Xu, Ting He, Yu Qian, Jia Li, Bowei Ni, Xiaojie Xu, Huanbo Wang, Peng Wang, Guoqing Cao, Siqi Ying, Guangyu Ding, Rong Wang, Zenghui Gu, Wei Li, Zhentao Man, Houfeng Zheng, Zhaohua Zhu, Zhen Li, Qingjun Meng, Chao Zheng, Liu Yang   +20 more
wiley   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Establishment and multifaceted characterization of a graded spinal cord injury model based on graduated impact depth

Animal Models and Experimental Medicine, EarlyView.
We established a graded spinal cord injury (SCI) model based on graduated impact depth, which was subsequently characterized across multiple dimensions, including locomotor function, imaging, histology, and transcriptomic profiles. We further identified transcriptomic changes in graded SCI at different time points postinjury and investigated the ...
Gang Zhou, Yue Hu, Zhimin Li, Shiyuan Han, Yuejia Li, Yongning Li, Jun Gao   +6 more
wiley   +1 more source

Differential diagnostic relevance of high resolution magnetic resonance in patients with possible multiple system atrophy (MSA) – a case report [Važnost uporabe magnetne rezonancije visoke rezolucije u dijagnostici moguće multiple sistemske atrofije - prikaz slučaja] [PDF]

, 2011
Multiple system atrophy (MSA) is sporadic, progressive neurodegenerative disorder characterized clinically by autonomic dysfunction, Parkinsonism (MSA-P), and cerebellar ataxia (MSA-C) in any combination.
Bačić Baronica, Koraljka, Ivkić, Goran, Miličević, Goran, Ozretić, David   +3 more
core