Gastric Adenocarcinoma Presenting as Pseudoachalasia: A Case Report from a Low-Resource Setting. [PDF]
Mohamud EH +4 more
europepmc +1 more source
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini +12 more
wiley +1 more source
Non-operative management of acute appendicitis is not readily generalisable to Honduras: a viewpoint from a low-resource setting. [PDF]
Valladares MR +4 more
europepmc +1 more source
Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan +7 more
wiley +1 more source
Lutembacher's syndrome presenting in the third trimester: a multidisciplinary challenge in a low-resource setting. [PDF]
Sidiqi AW +6 more
europepmc +1 more source
ABSTRACT Objective To evaluate the diagnostic accuracy of glial fibrillary acidic protein (GFAP) measured in dried plasma spots versus conventional plasma‐ and serum‐GFAP testing for assessment of disease severity in aquaporin‐4 immunoglobulin G–positive neuromyelitis optica spectrum disorder (AQP4‐IgG+ NMOSD).
Felix Wohlrab +19 more
wiley +1 more source
To: Diagnostic accuracy of lung ultrasound in children with respiratory pathology admitted in a pediatric intensive care unit of a low-resource setting: a single-center experience. [PDF]
Khan MS, Chaari A.
europepmc +1 more source
ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato +7 more
wiley +1 more source
Catastrophic health expenditures associated with single admission for paediatric surgery in a low-resource setting: a multicentre study. [PDF]
Sholadoye TT +18 more
europepmc +1 more source

