Prevalence and prediction of abnormal CT scan in pediatric patients presenting with a first seizure

AR Al-Rumayyan, MA Abolfotouh - Neurosciences Journal, 2012 - nsj.org.sa
OBJECTIVE: To estimate the prevalence of abnormal neuroimaging in children presenting
to the emergency department (ED) with a new-onset seizure, and to identify the significant …

The response patterns of infantile spasms to treatments in 156 patients: Hormonal therapy with intravenous synthetic ACTH appears promising

MT Alrifai, AR Al-Rumayyan, WA Al-Tuwaijri… - Neurosciences …, 2022 - nsj.org.sa
Objectives: To report the efficacy of intravenous (IV) synthetic ACTH (Tetracosactide) in the
treatment of infantile spasms. Methods: This is a retrospective chart review of patients with a …

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

…, LD Tully, RS Hill, D Al-Nouri, A Al-Rumayyan… - Nature …, 2004 - nature.com
Joubert syndrome is a congenital brain malformation of the cerebellar vermis and brainstem
with abnormalities of axonal decussation (crossing in the brain) affecting the corticospinal …

[HTML][HTML] Clinical exome sequencing: results from 2819 samples reflecting 1000 families

…, W Eyaid, MT Al Rifai, A Al-Rumayyan… - European Journal of …, 2017 - nature.com
We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from
54 countries with a wide phenotypic spectrum. Clinical information given by the requesting …

Cerebral sinus venous thrombosis in a child with nephrotic syndrome

AR Al-Rumayyan - Neurosciences Journal, 2014 - nsj.org.sa
Cerebral venous thrombosis (CVT) as a complication in children with nephrotic syndrome is
rarely reported. Although clinical characteristics are increasingly recognized, therapeutic …

Early-onset parkinsonism: Case report and review of the literature

A Al-Rumayyan, C Klein, M Alfadhel - Pediatric neurology, 2017 - Elsevier
Background Early-onset parkinsonism can be caused by PTEN-induced putative kinase 1 (PINK1)
gene defects and is usually characterized by an age of onset in the fourth decade of …

[HTML][HTML] Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal …

…, A Al Tuwaijri, M Aldarwish, A Al-Rumayyan… - Frontiers in Cell and …, 2021 - frontiersin.org
Von Willebrand A domain-containing protein 8 (VWA8), also named KIAA0564, is a poorly
characterized, mitochondrial matrix-targeted protein having a putative ATPase activity. VWA8 …

[HTML][HTML] High school versus graduate entry in a Saudi medical school–is there any difference in academic performance and professionalism lapses?

AR Al Rumayyan, AA Al Zahrani, TK Hameed - BMC Medical Education, 2016 - Springer
Ahmed Al Rumayyan is the Dean, College of Medicine and Assistant Professor, Pediatrics
at King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) and consultant …

[HTML][HTML] The leukodystrophy spectrum in Saudi Arabia: Epidemiological, clinical, radiological, and genetic data

…, E Faqeih, W Altuwaijri, A Al-Rumayyan… - Frontiers in …, 2021 - frontiersin.org
Background: Leukodystrophies (LDs) are inherited heterogeneous conditions that affect the
central nervous system with or without peripheral nerve involvement. They are individually …

[HTML][HTML] Teaching clinical reasoning through hypothetico-deduction is (slightly) better than self-explanation in tutorial groups: An experimental study

A Al Rumayyan, N Ahmed, R Al Subait… - Perspectives on Medical …, 2018 - Springer
Background Self-explanation while individually diagnosing clinical cases has proved to be
an effective instructional approach for teaching clinical reasoning. The present study …