Objectives: This study investigated the presence of COVID-19 cases among pilgrims, health care workers (HCWs), and non-HCWs of Hajj 2022.
Methods: Nasopharyngeal samples were collected from 491 attendees of Hajj 2022. All participants received three doses of COVID-19 vaccines.
PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology.
View Article and Find Full Text PDFObjectives: Dubin-Johnson syndrome (DJS) is a rare benign autosomal recessive disorder characterized by cholestasis in neonates. The aim of the present study was to describe the clinical characteristics, hepatic profiles, histopathology, gene mutations, and treatment outcomes of neonatal DJS.
Material And Methods: A multicenter retrospective study was undertaken with patients who had DJS.
A6-year-oldgirl presented with acute-onset headache andfluctuating right-sided weakness.HerPedNIHSSwas13. Brain MRI/MRA showed acute pontine arterial ischemic stroke(AIS)and remote right cerebellar and thalamic infarcts.
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