Results 81 to 90 of about 329,701 (306)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Sevoflurane improves respiratory mechanics and gas exchange in a case series of infants with severe bronchiolitis‐induced acute respiratory distress syndrome

Clinical Case Reports, 2018
Key Clinical Message This report describes the successful use of a new intervention to improve respiratory mechanics and gas exchange in a relatively homogeneous group of infants with severe bronchiolitis‐induced PARDS after failure of conventional ...
Mirco Nacoti, Jacopo Colombo, Oliviero Fochi, Daniele Bonacina, Francesco Fazzi, Giacomo Bellani, Ezio Bonanomi   +6 more
doaj   +1 more source

Intermittent Bolus versus Continuous Infusion of Propofol for Deep Sedation during ABR/Nuclear Medicine Studies [PDF]

, 2017
Objective  A comparison of intermittent bolus (IB) versus continuous infusion of propofol for deep sedation. Material and Methods  A retrospective review of patients sedated for Auditory Brainstem Response (ABR)/nuclear medicine studies between September
Ahmed, Sheikh Sohail, Hicks, Shawn, Nitu, Mara, Slaven, James E.   +3 more
core   +1 more source

Fetal Brain Tumor Harboring a Unique ROCK1::BRAF Fusion

Pediatric Blood &Cancer, EarlyView.
Marllon Cindra Sant'Ana, Mariana Maschietto, Daniela Paz Leal, Ricardo de Santos de Oliveira, Mayara Ferreira Euzébio, Antonio Carlos dos Santos, Luciano Neder, Carlos Alberto Scrideli, Elvis Terci Valera   +8 more
wiley   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Propofol-Based Procedural Sedation with or without Low-Dose Ketamine in Children [PDF]

, 2016
Objective Examine comparative dosing, efficacy, and safety of propofol alone or with an initial, subdissociative dose of ketamine approach for deep sedation. Background Propofol is a sedative-hypnotic agent used increasingly in children for deep sedation.
Ahmed, Sheikh Sohail, Hedlund, Lauren, Hicks, Shawn, Nitu, Mara, Rigby, Mark R., Slaven, James E.   +5 more
core   +1 more source

A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai, Sen Zhang, Haipei Zhang, Yating Zhang, Junhong Guo, Xiaoyan Yang   +5 more
wiley   +1 more source

Severe infections of Panton-Valentine leukocidin positive Staphylococcus aureus in children [PDF]

, 2019
Infections caused by Panton-Valentine leukocidin-positive Staphylococcus aureus (PVL-SA) mostly present as recurrent skin abscesses and furunculosis.
Bernuth, Horst von, Bührer, Christoph, Gratopp, Alexander, Hanitsch, Leif Gunnar, Holzhauer, Susanne, Hoppe, Pia-Alice, Humme, Daniel, Kallinich, Tilmann, Kieslich, Moritz, Krüger, Renate, Lala, Birgit, Lau, Susanne, Leistner, Rasmus, Niebank, Michaela, Pokrywka, Anna, Ringe, Hannelore, Schaper, Anne-Sophie, Schröder, Jennyver-Tabea, Schwarz, Carsten, Staab, Doris, Stegemann, Miriam Songa, Thee, Stephanie, Varnholt, Verena, Weber-Carstens, Steffen, Wendt, Anke   +24 more
core   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Influence of Stress and Nursing Leadership on Job Satisfaction of Pediatric Intensive Care Unit Nurses [PDF]

, 2000
BACKGROUND: High levels of stress and the challenges of meeting the complex needs of critically ill children and their families can threaten job satisfaction and cause turnover in nurses.
Bratt, Marilyn Meyer, Broome, Marion, Kelber, Sheryl Talcott, Lostocco, Lynne   +3 more
core   +1 more source