Results 131 to 140 of about 2,616,272 (289)

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Reversal of Rocuronium Induced Muscle Relaxation with Sugammadex versus Neostigmine in Patients Undergoing General Anaesthesia: A Randomised Controlled Trial

Journal of Clinical and Diagnostic Research
Introduction: Prolonged effects of neuromuscular blocking medications can lead to complications after surgery or the risk of Postoperative Residual Curarisation (PORC) in the postanaesthesia care unit, which may increase morbidity in surgical patients ...
Ankur Garg, Kirti Gupta, Richa Chandra, Jyoti Pathania, Malti Agrawal   +4 more
doaj   +1 more source

Succinylcholine and neuromuscular blockade monitoring [PDF]

Anaesthesia, 2015
A, Sabate, M, Koo, D, Lopez
openaire   +2 more sources

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE), Toward a Biomechanical Model

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot, Mariya Raykova, Claire Huzar, Véronique Thellier, Nicolas Hergibo, Marjolaine Gauthier, Gipsy Billy‐Lopez, Chantal Durand, Frédérique Nugues, Véronique Bourg, Klaus Dieterich   +10 more
wiley   +1 more source

Neurotransmitter‐Defined Degeneration Patterns in Sporadic and C9orf72‐Associated Amyotrophic Lateral Sclerosis: Predilection to GABAergic, Serotonergic, Opioid, Glutamatergic, Endocannabinoid, and Microglial Systems—Implications for Therapy Development

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a markedly distinctive clinical and neuroradiological signature, with the preferential involvement of specific brain networks and the apparent sparing of others. The molecular underpinnings of the strikingly selective anatomical vulnerability have not been fully elucidated to date despite the potential ...
Marlene Tahedl, We Fong Siah, Jasmin Lope, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Ee Ling Tan, Alison Toomey, Jana Kleinerova, Peter Bede   +10 more
wiley   +1 more source

Neuromuscular Monitoring and Wake-Up Test During Scoliosis Surgery. [PDF]

Cureus, 2023
Paunikar S, Paul A, Wanjari D, Alaspurkar NR.   +3 more
europepmc   +1 more source

NEUROMUSCULAR CASE STUDIES

, 2008
In this unique book, Dr. Bertorini guides you through more than 100 cases that demonstrate the diagnosis and management of a wide range of common and rare neuromuscular disorders.
Bertorini, Tulio E., TULIO E BERTORINI
core  

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle

, 2016
Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder causing polyglucosan storage in various tissues. Neuromuscular forms present with fetal akinesia deformation sequence, lethal myopathy, or mild hypotonia and weakness.
Gitiaux, C., Barnerias, C., Oldfors, Anders,, Carlier, R. Y., Romero, N. B., Oldfors Hedberg, Carola,, Benezit, A., Quijano-Roy, S., Malfatti, E.   +8 more
core   +1 more source

Expert Perspective: Toward Treat‐to‐Target Management in Adult Idiopathic Inflammatory Myopathies

Arthritis &Rheumatology, Accepted Article.
Treat‐to‐target (T2T) has transformed the management of several rheumatic diseases through predefined therapeutic goals, structured disease assessment, and timely treatment adjustment. Despite major advances in the understanding and treatment of idiopathic inflammatory myopathies (IIM), a formal T2T framework for adult IIM has not yet been established.
Shiri Keret, Nantakarn Pongtarakulpanit, Rohit Aggarwal   +2 more
wiley   +1 more source