Results 221 to 230 of about 2,379,974 (319)

Early Diagnosis of Gaucher Disease and ASMD in Sardinia: The "Ichnos" Project. [PDF]

Mediterr J Hematol Infect Dis
Costa A, Perra D, Mulas O, Podda L, Longu F, Fozza C, Palmas A, Curreli L, Cappellini MD, Zizzo C, Caocci G.   +10 more
europepmc   +1 more source

Avoiding early diagnosis

Journal of General and Family Medicine
Takao Wakabayashi, Goh Keng Wee, Mikinosuke Ishibashi, Yoshiki Akiyama, Naoki Kanda, Tomoyuki Watanabe   +5 more
openaire   +3 more sources

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Cell-free mitochondrial DNA and microRNA-137 for early diagnosis of preeclampsia. [PDF]

Front Cardiovasc Med
Marek-Iannucci S, Tigano M, Cardetti C, Sheu SS, Gamero Huaman M, Alvarez RJ, Rame E, Boelig RC, Rajapreyar IN.   +8 more
europepmc   +1 more source

Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants

Annals of Clinical and Translational Neurology, EarlyView.
Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants. ABSTRACT Objective Return of disease activity is expected when patients discontinue disease‐modifying therapy (DMT) for multiple sclerosis (MS). Some MS DMTs are associated with higher‐than‐expected disease activity (rebound) after discontinuation.
Ralf Gold, Krzysztof W. Selmaj, Regina Berkovich, Jeffrey A. Cohen, Giancarlo Comi, Eva K. Havrdová, James K. Sheffield, Hetal Desai, Chun‐Yen Cheng, Jon V. Riolo, Andrew Thorpe, Erik DeBoer, Bruce A. C. Cree   +12 more
wiley   +1 more source

Standardizing the Definition of Early Diagnosis in Wild-Type Transthyretin Amyloidosis. [PDF]

JACC Adv
Tini G, Musumeci B.
europepmc   +1 more source

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 more
wiley   +1 more source

Central Retinal Artery Occlusion: Early Diagnosis With Advanced Ultrasound Transorbital Doppler Imaging. [PDF]

Neurology
Merli N, Inchingolo V, Malferrari G, Pugliatti M, Paciaroni M.   +4 more
europepmc   +1 more source

NOVEL APPROACHES TOWARD EARLY DIAGNOSIS OF ISLET ALLOGRAFT REJECTION1

, 2001
Yakimets, W, Elliott, J, Churchill, T, Shapiro, A, Kneteman, N, Mitlianga, P, Rajotte, R, Hao, E, Lakey, J, Papadopoulos, G   +9 more
core   +1 more source

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi, Katharine Lee, Kerry C. Nix, Miguel Menchaca, Xiwei Shé, Lorelei Santa Maria, Wei Wu, Zihuai He, Fiona M. Baumer   +8 more
wiley   +1 more source