Results 211 to 220 of about 16,203 (292)

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S. AlFaris, Lindsey Vogt, Michele Eid, Anika Menetrey, Sayoni Roy Chowdhury, Dawn Codeiro, Pradeep Krishnan, Liali Aljouda, Emily W.Y. Tam, Carolina Gorodetsky   +10 more
wiley   +1 more source

Presynaptic Congenital Myasthenic Syndromes

Muscle &Nerve, EarlyView.
ABSTRACT Presynaptic congenital myasthenic syndromes (CMS) encompass a large number of rare neurologic disorders caused by impaired release of acetylcholine (ACh) from motor nerve terminals. There are two main groups of presynaptic CMS: one in which the amount of ACh in synaptic vesicles (SV) is diminished and another in which the mechanism of synaptic
Ricardo A. Maselli
wiley   +1 more source

Hydroelectrolytic syndromes in neuroanesthesia and neurocritical care. [PDF]

World J Crit Care Med
Mejia Herrera F, Marino L, Bilotta F.
europepmc   +1 more source

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci, Ursula Thomé, Larissa Aparecida Batista, Ana Laura Volpi Martins Lorenzoni, Carla Andrea Cardoso Tanuri Caldas, Americo Ceiki Sakamoto, Israel Gomy, Lisandra Mesquita Batista, Marcela Lopes de Almeida, Ana Paula Andrade Hamad, Guillermo Andrey Ariza Traslaviña   +10 more
wiley   +1 more source

The Differing Phenotypes of the Three Most Common Postsynaptic Congenital Myasthenic Syndromes Governed by Their Underlying Molecular Pathogenic Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT The congenital myasthenic syndromes are rare disorders of impaired signal transmission at the neuromuscular junction. Despite next generation sequencing facilitating the identification of variants in myasthenic‐associated genes, these variants are frequently of unknown significance and the clinical diagnosis can be delayed.
David Beeson
wiley   +1 more source

Intravenous fluid therapy: essential components and key considerations. [PDF]

Porto Biomed J
Silva C, Marcos P.
europepmc   +1 more source

Comparison of the Depth of the Stromal Demarcation Line and Clinical Outcomes in Corneal Crosslinking Treatment with Hydroxypropyl Methylcellulose-Based and Vitamin E-TPGS-Based Riboflavin Solutions. [PDF]

Beyoglu Eye J
Ulutas HG, Tufekci AB.
europepmc   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Effects of different sodium concentrations in fluids on brain, lung, and kidney in experimental ischemic stroke. [PDF]

Sci Rep
Bessa CM, Vilardo AL, Peruchetti DB, Conceição PHL, Caruso-Neves C, Capelozzi VL, Battaglini D, Robba C, Pelosi P, Malbrain MLNG, Rocco PRM, Silva PL, Samary CS.   +12 more
europepmc   +1 more source

Osmotic Remodeling of Extracellular Vesicles for Precision Nanomedicine

Small, EarlyView.
Hypotonic lysis in bidistilled water is used to remodel B lymphocyte–derived extracellular vesicles into cargo‐depleted, structurally preserved nanovesicles. The process reduces intraluminal proteins and nucleic acids, reshapes membrane composition, and enhances tumor‐cell uptake in vitro, while allowing proof‐of‐concept reloading with exogenous agents,
Francesca Susa, Lorenzo Arnaboldi, Veronica De Giorgis, Marco Ghirimoldi, Elettra Barberis, Marco Brucale, Francesco Valle, Mario Malerba, Marta Vallino, Angelo Musicò, Roberto Frigerio, Alessandro Gori, Vera Mugoni, Claudia Voena, Roberto Pisano, Fabrizio Pirri, Silvia Arpicco, Marcello Manfredi, Tania Limongi   +18 more
wiley   +1 more source