Results 131 to 140 of about 156,557 (337)

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. [PDF]

, 2019
IntroductionMucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan ...
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Giugliani, Roberto, Gold, Jeffrey I, Harmatz, Paul, Hendriksz, Christian, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, MPS Consensus Programme Co-Chairs, MPS Consensus Programme Steering Committee, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Scarpa, Maurizio, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert   +30 more
core   +2 more sources

Impact of APOE ε4 Genotype Load on Cognitive Function and Lipid Metabolism in Patients With Cerebral Small Vessel Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Apolipoprotein ε4 (APOE ε4) is a potent genetic risk factor for Alzheimer's disease (AD). However, its role in cerebral small vessel disease (CSVD) remains unclear. Given the clinical and pathological similarities between CSVD and AD, this study aimed to investigate the associations of APOE ε4 gene dosage with cognitive function and
Tingru Jin, Haocheng Yang, Feng Liu, Sihao Lin, Junru Hu, Jian Wang, Yulan Gou   +6 more
wiley   +1 more source

Episodic vestibular symptoms in children with a congenital cytomegalovirus infection [PDF]

, 2019
Objective: Congenital cytomegalovirus (cCMV) infection is the most common non-genetic cause of sensorineural hearing loss in children. Although cCMV-induced vestibular loss is demonstrated in several studies, the occurrence of vertigo has been described ...
Dhondt, Cleo, Dhooge, Ingeborg, Maes, Leen, Oostra, Anna   +3 more
core   +1 more source

Plasma Proteomic Signatures for Alzheimer's Disease: Comparable Accuracy to ATN Biomarkers and Cross‐Platform Validation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background There is growing recognition of the potential of plasma proteomics for Alzheimer's Disease (AD) risk assessment and disease characterization. However, differences between proteomics platforms introduce uncertainties regarding cross‐platform applicability.
Manyue Hu, Oliver Robinson, Christina M. Lill, Anna Matton, Raquel Puerta, Pilar Sanz, Merce Boada, Agustín Ruiz, Lefkos Middleton, for the Alzheimer's Disease Neuroimaging Initiative   +9 more
wiley   +1 more source

Prognostic Significance of Preoperative Neurological Versus Radiological Deterioration in Older Patients with Moderate-to-Mild Traumatic Brain Injury

Life
Background: The prognostic value of preoperative deterioration in older patients with moderate-to-mild traumatic brain injury (TBI) remains unclear.
Shin Heon Lee, Jong Tae Lee, Yong-sook Park   +2 more
doaj   +1 more source

Analyzing the serum biochemical factors that influence early neurological deterioration in ischemic Stroke patients and developing a nomogram prediction model [PDF]

Journal of Medical Biochemistry
Background: To investigate the risk factors associated with early neurological deterioration (END) in ischemic stroke (IS) patients and develop a predictive nomogram model. Methods: General clinical data from 220 IS patients treated between December 2022
Xiaoni Zhan, Yunyun Xu, Rongrong Ma
doaj   +1 more source

Impact of Stress‐Induced Hyperglycemia on In‐Hospital Medical Complications in Patients With Acute Stroke: From a Large‐Scale Nationwide Longitudinal Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Aims This study aimed to explore the relationship between stress‐induced hyperglycemia (SIH) and in‐hospital medical complications in patients with acute stroke. Methods We enrolled 865,765 patients with acute stroke from the Chinese Stroke Center Alliance cohort.
Xintong Song, Yi Ju, Hongqiu Gu, Zhikai Zhu, Zixiao Li, Qian Zhang, Xingquan Zhao   +6 more
wiley   +1 more source

The length of susceptibility vessel sign predicts early neurological deterioration in minor acute ischemic stroke with large vessel occlusion [PDF]

, 2021
Lanying He, Jian Wang, Feng Wang, Lili Zhang, Lijuan Zhang, Zhao Wang, Xiechuan Weng, Fan Xu   +7 more
openalex   +1 more source

Predictive Factors of Early Neurologic Deterioration in Isolated Pontine Infarction

Annals of Indian Academy of Neurology
Background and Objectives: Neurologic deterioration frequently occurs during the acute phase of isolated pontine infarction (IPI). However, the factors that predict early neurologic deterioration (END) are not well understood. The purpose of this study is to identify and analyze the predictors of END in individuals with IPI.
Shan Gao, Wenbo Wu, Haocheng Yang, Yulan Gou   +3 more
openaire   +3 more sources

The MMP‐9/TIMP‐1 Ratio and Concentrations of Osteopontin Are Elevated in Cerebrospinal Fluid of People With Multiple Sclerosis and Decrease After Autologous Hematopoietic Stem Cell Transplantation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To evaluate the utility of cerebrospinal fluid (CSF) biomarkers—matrix metalloproteinase‐9 (MMP‐9), tissue inhibitor of metalloproteinases‐1 (TIMP‐1), the MMP‐9/TIMP‐1 ratio, and osteopontin (OPN)—as indicators of blood–brain barrier (BBB) integrity and disease activity in people with relapsing–remitting multiple sclerosis (pwMS ...
Ivan Pavlovic, Ida Erngren, Kim Kultima, Anders Larsson, Malin Müller, Anna Wiberg, Joachim Burman   +6 more
wiley   +1 more source