Results 31 to 40 of about 153,965 (262)

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

Initial indicators for the prognosis of Acinetobacter Baumannii bacteremia in children

BMC Infectious Diseases, 2023
Background Risk factors related to mortality due to Acinetobacter baumannii (AB) bacteremia have been unveiled previously, but early clinical manifestations of AB bacteremia based on prognosis remain uncovered.
Yi Hong, Xiaochen Lin, Chunxu Zhang, Xingqiang Dong, Meihua Lu, Saihu Huang, Lili Huang, Chunmei Su, Zhenjiang Bai, Shuiyan Wu   +9 more
doaj   +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

Late-preterm birth in a level III hospital: incidence and associated morbidity

Journal of Pediatric and Neonatal Individualized Medicine, 2016
Introduction: Late-preterm infants are physiologically and metabolically immature and have important risk of morbidity and mortality. Aim: To analyze the incidence of late prematurity and its associated morbidity and mortality at a level III hospital ...
Carla Garcez, Nicole Silva, Liliana Pinheiro, Miguel Costa, Carla Sá, Eduarda Abreu, Albina Silva, Almerinda Pereira   +7 more
doaj   +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

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Pediatric In-Hospital Cardiac Arrest International Registry (PACHIN): protocol for a prospective international multicenter register of cardiac arrest in children

BMC Cardiovascular Disorders, 2021
Background and aims Cardiac arrest (CA) in children is a major public health problem. Thanks to advances in cardiopulmonary resuscitation (CPR) guidelines and teaching skills, results in children have improved.
Jimena del Castillo, Débora Sanz, Laura Herrera, Jesús López-Herce, Grupo de Estudio de Parada Cardiaca Intrahospitalaria en la Infancia   +4 more
doaj   +1 more source

Pediatric Palliative Care and the Pediatric Intensive Care Unit [PDF]

Current Pediatrics Reports, 2018
The role of palliative care in pediatric critical care medicine is described, with a focus on communication practices, complex chronic medical disease, end-of-life care, and moral resiliency. Palliative care medicine has an increasing presence in pediatric critical care medicine.
Eileen Rhee, Wynne Morrison
openaire   +1 more source

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi, Katharine Lee, Kerry C. Nix, Miguel Menchaca, Xiwei Shé, Lorelei Santa Maria, Wei Wu, Zihuai He, Fiona M. Baumer   +8 more
wiley   +1 more source

Fluid bolus resuscitation with hypertonic saline albumin solution in critically ill children: a prospective observational pilot study

Scientific Reports
To evaluate the hemodynamic effects and the safety profile of fluid bolus resuscitation with hypertonic saline albumin (HSA) in critically ill children, we performed a prospective observational pilot study between October 2018 and May 2021 in the ...
Sara de la Mata-Navazo, Sarah Nicole Fernández, María Slöcker-Barrio, Alicia Rodríguez-Martínez, Laura Torres, Santiago Rodríguez-Tubio, Claudia Olalla, Cristina de Ángeles, Pablo González-Navarro, Jesús López-Herce, Javier Urbano   +10 more
doaj   +1 more source