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 and genetic spectrum of mitochondrial DNA depletion syndromes: A report of 6 cases with 4 novel variants.

Unlabelled: Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a heterogeneous group of rare autosomal recessive genetic disorders characterized by a decrease in the number of mtDNA copies inside the organ involved. There are three distinct forms of MDS including the hepatocerebral, the myopathic and the encephalomyopathic forms. The diversity in the clinical and genetic spectrum of these disorders makes the diagnosis challenging.

Potential Role of Neutrophil-Platelet Interaction in Increased Susceptibility to Infection of Patients with Down Syndrome.

Objective: Recurrent infection in Down syndrome (DS) has been previously documented; the potential role of platelets and neutrophil-platelet interaction has not been addressed in previous studies.

Patients And Methods: Using flow cytometry, we evaluated CD40 and CD18 expression as activation markers for neutrophils and CD62p as an activation marker for platelets, before and after lipopolysaccharide (LPS) stimulation, in 34 patients with DS and 39 control patients.

Results: Markers were evaluated as percentage of positivity, mean fluorescent intensity (MFI), and activation index (MFI after stimulation/MFI before stimulation).

Evaluation of neural damage in Duchenne muscular dystrophy patients.

The presence of non-progressive cognitive impairment is recognized as a common feature in a substantial proportion of patients with Duchenne muscular dystrophy (DMD). Concurrently, the amyloid beta peptide (Aβ42) protein has been associated with changes in memory and cognitive functions. Also, it has been shown that different subtypes of neural stem/progenitor cells (CD 34, CD 45, nestin) are involved in the innate repair of plasticity mechanisms by the injured brain, in which Nerve Growth Factor (NGF) acts as chemotactic agents to recruit such cells.

Oral Ibuprofen and ductus arteriosus in premature infants: a randomized pilot study.

The purpose of this study was to evaluate the feasibility of the use oral ibuprofen suspension (OIS) in the treatment of patent ductus arteriosus (PDA) in premature infants. Premature infants ( View Article and Find Full Text PDF