Results 181 to 190 of about 15,700 (254)

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

Intraoperative isotonic balanced versus hypotonic crystalloids on postoperative sodium homeostasis in small children undergoing major neurosurgery: a randomized controlled trial. [PDF]

BMC Pediatr
Xing MW, Zhang Y, Zhu HT, Liu C, Geng ZY, Song LL, Wang DX.   +6 more
europepmc   +1 more source

Urinary Dysfunction in Myasthenic Syndromes: A Scoping Review of Clinical Features and Treatment‐Related Associations

Muscle &Nerve, EarlyView.
ABSTRACT Urinary dysfunction has been reported in association with myasthenic syndromes, including myasthenia gravis (MG), Lambert–Eaton myasthenic syndrome (LEMS), and congenital myasthenic syndromes (CMS), but evidence regarding its prevalence, clinical impact, pathophysiology, and management remains limited.
Julia M. Augustin, Lillith Horstkorte, Hellen Schmidt, Blanca G. Sánchez Navarro, Avan Kader, Inga Koneczny, Holly M. Nelson, Pratishtha P. Wadnerkar, Rafael Meleka Hanna, Ayşe N. Özdağ Acarlı, Piraye Oflazer, Atay Vural, Franz Blaes, Miriam L. Fichtner   +13 more
wiley   +1 more source

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

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

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
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

Perianesthetic Complications in Genetic Mitochondrial Disease: A Review of Case Reports

Pediatric Anesthesia, EarlyView.
ABSTRACT Background Genetic mitochondrial diseases (GMDs) are a large group of genetically and clinically heterogeneous disorders caused by defects in genes encoding mitochondrial components. GMDs are grouped into named syndromes based on clinical presentation, for example, Leigh syndrome (LS).
Brittany M. Johnson, Simon C. Johnson
wiley   +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

Fluid-therapy for Brain Surgery: A Narrative Review. [PDF]

Turk J Anaesthesiol Reanim
Lauretta MP, Marino L, Akça B, Samolsky Dekel BG, Bilotta F.   +4 more
europepmc   +1 more source