Results 61 to 70 of about 16,203 (292)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

How Salty Are Your Fluids? Pediatric Maintenance IV Fluid Prescribing Practices Among Hospitalists

Frontiers in Pediatrics, 2020
Objective: The primary goal of this study was to assess current maintenance intravenous fluid (mIVF) prescribing practices of pediatric hospitalists after the release of the American Academy of Pediatrics Clinical Practice Guideline (AAP CPG ...
Alan M. Hall, Juan C. Ayus, Juan C. Ayus, Michael L. Moritz   +3 more
doaj   +1 more source

The time course of red cell lysis in hypotonic electrolyte solutions [PDF]

The Journal of Physiology, 1969
1. Osmotic haemolysis of a standard suspension of human red cells was followed using a recording spectrophotometer at wave‐lengths between 600 and 650 mμ.2. Optical density changes in the cell suspensions were related to turbulence of the suspension, cell swelling and loss of haemoglobin‐containing cells.3.
A J, Bowdler, T K, Chan
openaire   +2 more sources

Rehydration: Comparison of Isotonic and Hypotonic Saline with Dextrose in Children

, 2014
Introduction: Early rehydration with bolus fluid can be life saving. We compared isotonic saline with a hypotonic fluid which was composed of saline 0.9%, dextrose, and bicarbonate in our clinical setting.Materials and Methods: 71 children entered to ...
Malaki, Majid, Noori, Shamila, Hosseini, Nasrolah, Sharifian, Mostafa, Mostafavi, Seyed Abolfazl, Derakhshanfar, Hojjat   +5 more
core   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Dextrose 5% versus normal saline as maintenance fluid therapy in patients with septic shock (DEMANDS): a randomized controlled trial

Alexandria Journal of Medicine
Objective To determine the effects of Dextrose 5% for maintenance and creep fluids on cumulative fluid balance (CFB) for septic shock concerning adult people.Design An open-label randomized clinical trial with a single center and parallel groups.Setting ...
Akram Muhammad Fayed, Mohamed Osman Elsayed Osman, Mohammed Mostafa Megahed, Mohamed Abdelalim Abdelhady, Ahmad Sabry Saleh   +4 more
doaj   +1 more source

Swelling-activated Ca2+ channels trigger Ca2+ signals in Merkel cells.

PLoS ONE, 2008
Merkel cell-neurite complexes are highly sensitive touch receptors comprising epidermal Merkel cells and sensory afferents. Based on morphological and molecular studies, Merkel cells are proposed to be mechanosensory cells that signal afferents via ...
Henry Haeberle, Leigh A Bryan, Tegy J Vadakkan, Mary E Dickinson, Ellen A Lumpkin   +4 more
doaj   +1 more source