Publications by authors named "Rana A Abdelrahim"
Critical illness encompasses the dysfunction of vital organs, the risk of death, and potential reversibility; it is a major cause of morbidity and mortality globally. The pathophysiology underlying many critical illnesses includes bioenergetic failure, inflammation, and oxidative stress. This systematic review aims to explore the use of nutritional ketosis (ketogenic feeds and exogenous ketone body administration) as a potential therapy, affecting the aforementioned pathways in patients with critical illnesses.
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- Biallelic pathogenic variants in the PLPBP gene cause a unique form of vitamin B6-dependent epilepsy, which can lead to severe consequences such as status epilepticus and death during infancy if untreated.
- Researchers identified 12 new patients and six novel variants linked to this condition, with the most severe cases associated with variants that cause loss of function or destabilize the PLPBP protein.
- A zebrafish model created using CRISPR/Cas9 mimics the disease's symptoms and shows that treatment with pyridoxine can alleviate seizures and prolong life, while also revealing important metabolic disruptions linked to the disease.
Clinical Spectrum of Hereditary Spastic Paraplegia in Children: A study of 74 cases.
Sultan Qaboos Univ Med J
August 2013
Objectives: The aim of the study was to explore the spectrum of hereditary spastic paraplegia (HSP) in children in Oman.
Methods: This retrospective study was carried out between January 1994 and August 2011 on children with delayed development, gait disorders and motor handicaps, with signs of symmetrical pyramidal tract involvement. A detailed perinatal and family history, including the age of onset of symptoms, was recorded.