Results 71 to 80 of about 11,674 (220)

Regular lung recruitment maneuvers during high-frequency oscillatory ventilation in extremely preterm infants: a randomized controlled trial

BMC Pediatrics, 2022
Background Lung recruitment maneuvers (LRMs) improve lung volume at initiation of high-frequency oscillatory ventilation (HFOV), but it is unclear when to repeat LRMs. We evaluated the efficiency of scheduled LRMs.
Tobias Werther, Erik Kueng, Lukas Aichhorn, Linda Pummer, Katharina Goeral, Angelika Berger, Michael Hermon, Katrin Klebermass-Schrehof   +7 more
doaj   +1 more source

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder [PDF]

, 2015
Background: Mitochondrial disease is often suspected in cases of severe epileptic encephalopathy especially when a complex movement disorder, liver involvement and progressive developmental regression are present.
Collins, Abigail E, Coughlin, Curtis R, II, Creadon-Swindell, Geralyn, Friederich, Marisa W, Geiger, Elizabeth A, Minczuk, Michal, Powell, Christopher A, Scharer, Gunter H, Shaikh, Tamim H, Swanson, Michael A, Van Coster, Rudy, Van Hove, Johan LK, Vanlander, Arnaud, Yu, Hung-Chun   +13 more
core   +2 more sources

Risdiplam Add‐On Therapy Following Onasemnogene Abeparvovec in Children With Spinal Muscular Atrophy and 2 SMN2 Copies: A Multi‐Center Case Series

Muscle &Nerve, Volume 73, Issue 6, Page 1164-1171, June 2026.
ABSTRACT Introduction/Aims Three disease‐modifying therapies are approved for individuals with spinal muscular atrophy (SMA); however, data concerning the combination of these therapies remain limited. This study aimed to evaluate the safety and efficacy of add‐on risdiplam in children who had experienced clinical deterioration despite gene therapy ...
Corinna Stoltenburg, Klaus Goldhahn, Arpad von Moers, Angela M. Kaindl, Claudia Weiß   +4 more
wiley   +1 more source

Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study

Orphanet Journal of Rare Diseases, 2021
Background Tuberous sclerosis complex (TSC), a multisystem genetic disorder, affects many organs and systems, characterized by benign growths. This German multicenter study estimated the disease-specific costs and cost-driving factors associated with ...
Janina Grau, Johann Philipp Zöllner, Susanne Schubert-Bast, Gerhard Kurlemann, Christoph Hertzberg, Adelheid Wiemer-Kruel, Thomas Bast, Astrid Bertsche, Ulrich Bettendorf, Barbara Fiedler, Andreas Hahn, Hans Hartmann, Frauke Hornemann, Ilka Immisch, Julia Jacobs, Matthias Kieslich, Karl Martin Klein, Kerstin A. Klotz, Gerhard Kluger, Markus Knuf, Thomas Mayer, Klaus Marquard, Sascha Meyer, Hiltrud Muhle, Karen Müller-Schlüter, Anna H. Noda, Susanne Ruf, Matthias Sauter, Jan-Ulrich Schlump, Steffen Syrbe, Charlotte Thiels, Regina Trollmann, Bernd Wilken, Laurent M. Willems, Felix Rosenow, Adam Strzelczyk   +35 more
doaj   +1 more source

Rapid recovery after intrathecal dexamethasone in FIRES

Epileptic Disorders, EarlyView.
João Filipe Nico, Ana Rita Fradique, Catarina Teixeira, Rita Moinho, Mariana Leitão Marques, Constança Santos, Joana Afonso Ribeiro, Filipe Palavra, Cristina Pereira   +8 more
wiley   +1 more source

Motor skills and working memory capacity in preadolescents born very preterm

Developmental Medicine &Child Neurology, Volume 68, Issue 6, Page 784-791, June 2026.
Structural equation model showing the mediating effect of motor skills on the association of very preterm birth and working memory difficulties. This original article is commented by Hsieh on pages 741‐742 of this issue. Abstract Aim To investigate the association of very preterm birth with visuospatial working memory in preadolescents and its ...
Sebastian Ludyga, Markus Gerber, Martina Studer, Mark Brotzmann   +3 more
wiley   +1 more source

Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR‐based urinary metabolomics

JIMD Reports, 2022
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by a deficiency of the arylsulfatase A (ARSA). ARSA deficiency leads to an accumulation of sulfatides primarily in the nervous system ultimately causing demyelination. With evolving
Lucia Laugwitz, Laimdota Zizmare, Vidiyaah Santhanakumaran, Claire Cannet, Judith Böhringer, Jürgen G. Okun, Manfred Spraul, Ingeborg Krägeloh‐Mann, Samuel Groeschel, Christoph Trautwein   +9 more
doaj   +1 more source

Myelin pathology: Involvement of molecular chaperones and the promise of chaperonotherapy [PDF]

, 2019
The process of axon myelination involves various proteins including molecular chaperones. Myelin alteration is a common feature in neurological diseases due to structural and functional abnormalities of one or more myelin proteins.
Cappello F., Conway De Macario E., Macario A. J. L., Marino Gammazza A., Scalia F.   +4 more
core   +1 more source

A Novel Multimodal LC–MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics.
Stine Christ, Julia Rossmann, Sylvia Richter, Sven Garbade, Glynis Klinke, Nenad Blau, Georg Friedrich Hoffmann, Jürgen Günther Okun, Thomas Opladen   +8 more
wiley   +1 more source

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source