Results 111 to 120 of about 304,926 (297)

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Research on the Flow Evolution and Runner Force Characteristics of a Pump-Turbine Under Cavitation Effects

Applied Sciences
Pump-turbines are critical for maintaining power grid stability, but they frequently suffer from flow instabilities induced by cavitation due to frequent operating condition changes.
Yanhao Li, Lei Chen, Jianwen Xu, An Yu
doaj   +1 more source

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

Time dependent pressure measurements on the Turbine-99 draft tube

, 2007
The flow properties of the Turbine-99 draft tube have been subject of much interest by the research community. The first part of the draft tube, i.e. the cone, raised many questions about the pressure recovery and the time dependence.
Cervantes, Michel, Gustavsson, Håkan, Lövgren, Magnus   +2 more
core  

The Role of Calcitonin Gene‐Related Peptide in High‐Altitude Headache: A Prospective Field Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐altitude headache (HAH) is a common neurological condition associated with rapid ascent to high altitude. The pathophysiological mechanisms underlying HAH remain incompletely understood. Calcitonin gene‐related peptide (CGRP), a neuropeptide implicated in migraine pathophysiology, may play a key role in the pathophysiology of ...
Roman Schniepp, Ludwig Karrasch, Helena Breitenstein, Andreas Straube, Katharina Kamm   +4 more
wiley   +1 more source

Numerical Simulation of the Flow Through a Kaplan Draft Tube

, 2016
This paper presents a comparison between steady turbulent flow simulation results in the U9 Kaplan turbine draft tube and experimental velocity and pressure measurements. Two turbulence models were tested, k-epsilon and Shear StressTransport (SST).
Cervantes, Michel, Dunca, Georgiana, Panaitescu, Valeriu-Nicolae, Iovanel, Raluca Gabriela, Bucur, Diana-Maria   +4 more
core  

Hydraulic performance of an S-draft tube for a low head axial flow turbine : How to the performance and unsteady secondary flow in a S-draft tube [PDF]

, 1988
application/pdfThis study investigates the possibility of significantly improving the performance or sharply bent S-draft tubes by a conventional, but comparatively simple method ; by adjusting the divergent angle of the conical straight portion at the ...
Wakashima, Yoshisato, Kubota, Takashi, Nakamura, Shogo, Shimizu, Yukimaru   +3 more
core  

Prognostic Value of Neurofilament Light Chain and Glial Fibrillary Acidic Protein in ALD‐Related Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak, Marije M. C. Voermans, Hans Heijst, Charlotte E. Teunissen, Marc Engelen   +4 more
wiley   +1 more source

Influence of Load Variation on the Flow Field and Stability of the Francis Turbine

Journal of Marine Science and Engineering
With the development of a power system predominantly reliant on new energy sources, turbine generator sets are increasingly required to operate under wide load conditions, resulting in numerous unstable flow phenomena and substantial economic losses for ...
Shenhui Li, Jiayang Pang, Chengmei Dan, Wenping Xiang, Xutao Yi, Xiaobing Liu   +5 more
doaj   +1 more source

Experimental study on flow asymmetry after the draft tube bend of a Kaplan turbine

, 2016
Flow condition in a Kaplan turbine draft tube is investigated using laser Doppler anemometry (LDA) and particle image velocimetry(PIV). The investigated draft tube is composed of a cone followed by an elbow and a straight diffuser.
Cervantes, Michel,, Mulu, Berhanu,, Amiri, Kaveh,, Raisee, Mehrdad,   +3 more
core   +1 more source