Meningoencephalitis in a novel mutation in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) ending a familial diagnostic odyssey: A case series report.

MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy) is an ultra-rare autosomal recessive disorder that leads to mutations in the nuclear genes encoding thymidine phosphorylase. Symptoms include gastrointestinal dysmotility, cachexia, ptosis, external ophthalmoplegia, sensorimotor neuropathy and asymptomatic leukoencephalopathy. We describe the first case of MNGIE with meningoencephalitis that ultimately led to a familial diagnosis ending a diagnostic odyssey.

Things are not what they seem neurologically and radiologically: An apt descriptor for spinal dural arteriovenous fistula (SDAVF).

Spinal dural arteriovenous fistulas (SDAVF) are the most common vascular malformations affecting the spinal cord. It is infrequently encountered in clinical practice and is believed to be acquired, predominantly affecting middle-aged and elderly men with unknown etiology. It is usually misdiagnosed despite presenting with conventional clinical findings and radiological features.

Predictors of Vascular Cognitive Impairment Poststroke in a Middle Eastern (Bahrain) Cohort: A Proposed Case-Control Comparison.

Background: Poststroke dementia and cognitive impairment are associated with poor long-term outcomes after stroke. The contribution of genetic factors such as the presence of apolipoprotein (ApoE) ɛ4 allele and its association with cognitive impairment poststroke remains inconclusive, particularly in Middle Eastern regions.

Objective: The aim of this study is to examine all correlates and potential predictors of cognitive impairment including self-awareness and regulation deficits in stroke patients and compare these functions with healthy older adults from a Middle Eastern population.

Metacognitive function poststroke: a review of definition and assessment.

Metacognition is the conscious knowledge individuals have about their own cognitive capacities and the regulation of these activities through self-monitoring. The aim of this review was to identify the definitions and assessment tools used to examine metacognition in relation to stroke studies. A computer database search was conducted using MEDLINE, CINAHL, PsycINFO, Cochrane Reviews, Scopus and Web of Science.

Impact of VEGFA -583C > T polymorphism on serum VEGF levels and the susceptibility to acute chest syndrome in pediatric patients with sickle cell disease.

We investigated the association of VEGFA -583C > T on VEGF serum levels and acute chest syndrome (ACS) in 351 pediatric patients with sickle cell disease (SCD), of whom 90 had ACS, and 261 were ACS-free controls. Significant differences in -583C > T minor allele and genotype frequencies were seen between ACS cases and controls, evidenced by enrichment of -583T/T genotypes in patients with ACS, which were linked with reduction in VEGF serum levels. VEGFA -583C > T and reduced VEGF serum levels may influence ACS risk in patients with SCD, which will aid in identifying patients with SCD who are at high risk of ACS.