Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Influence of frailty on short-term mortality in older patients with multiple trauma in the emergency department. [PDF]
Eur J Trauma Emerg SurgÇelik Ş +3 more
europepmc +1 more source
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
Trauma, resilience, and distress in post-revolution Egypt.
Trauma represents a persistent threat to health and wellbeing. Yet, little research has examined links between trauma, psychopathology, and resilience in the Middle East and North Africa region outside of refugee settings, especially in Egypt.
Ellis, K. +3 more
core +1 more source
Body temperature as a predictor of mortality in multiple trauma patients: aprospective single-centre cohort study. [PDF]
Sci RepBlasco Mariño R +6 more
europepmc +1 more source
Elevation of neutrophil-derived factors in patients after multiple trauma. [PDF]
J Cell Mol Med, 2023 Lingitz MT +11 more
europepmc +1 more source
A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi +17 more
wiley +1 more source
Prolonged Flow-Controlled Ventilation in a Patient With ARDS and Multiple Trauma: A Case Report. [PDF]
ChestErblich R +9 more
europepmc +1 more source
White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian +8 more
wiley +1 more source
Correction: Minimally invasive treatment for critical multiple trauma with traumatic diaphragmatic hernia combined with pelvic and acetabular fractures: a rare case report. [PDF]
Front Med (Lausanne)Zhou MF +7 more
europepmc +1 more source