Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.

Mitochondrial disorders exhibit clinical and genetic diversity. Nearly 400 distinct genes, located in both the mitochondrial and nuclear genomes, harbor pathogenic variants that can produce a broad spectrum of mitochondrial diseases. This work aims to explore the genetic etiology of a cohort of Egyptian pediatric patients who were clinically suspected of having a mitochondrial disorder.

Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients.

Mucopolysaccharidosis type III (MPS III) is a rare autosomal recessive lysosomal storage disorder characterized by progressive neurocognitive deterioration. There are four MPS III subtypes (A, B, C, and D) that are clinically indistinguishable with variable rates of progression. A retrospective analysis was carried out on 34 patients with MPS III types at Cairo University Children's Hospital.

Neurocysticercosis in non-endemic regions: The experience of Qatar.

Objective: To describe the occurrence and features of Neurocystircercosis (NCC) in Qatar.

Background: Qatar has a mixed population of natives and expats. NCC is not endemic to the region, but clinical practice suggests its occurrence in large numbers.

Effect of Reperfusion Therapies on Incidence of Early Post-Stroke Seizures.

This study aimed to determine the effect of reperfusion therapies on the occurrence of early post-stroke seizures (PSS) in patients with acute ischemic stroke (AIS). Reperfusion therapies are paramount to the treatment of stroke in the acute phase. However, their effect on the incidence of early seizures after an AIS remains unclear.

24-Hour video EEG in the evaluation of the first unprovoked seizure.

Objective: To assess the gain in detection of epileptiform abnormalities in 24-hour EEG recordings following the first seizure.

Methods: We identified patients who underwent 24-hour video EEG (VEEG) with "first seizure" as an indication. We noted the presence or absence of epileptiform discharges (EDs) in the VEEG study and the latency for the appearance of such discharges.