Publications by authors named "A Alhashim"

Article Synopsis
  • L-2 hydroxyglutaric aciduria (L-2-HGA) is a rare genetic disorder that leads to various neurological symptoms and requires careful diagnosis for effective treatment.
  • In a case series of three patients, symptoms included febrile seizures, hyperactivity, and intellectual challenges, with one case showing cervical dystonia.
  • Brain MRIs of two patients revealed distinctive patterns associated with L-2-HGA, emphasizing the need for increased awareness and early diagnosis to enable the use of management strategies like riboflavin, levocarnitine, and dietary changes.
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Introduction: Acute myocardial infarction (AMI), commonly referred to as a heart attack, is a leading global cause of mortality, necessitating immediate recognition and appropriate actions. This study aims to assess AMI awareness and response among the general population in Alahssa, Saudi Arabia.

Methodology: A descriptive cross-sectional design was employed, with surveys distributed via online platforms.

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Introduction Epistaxis, or nosebleeds, is a common pediatric emergency, impacting their quality of life (QoL). Existing research on epistaxis has predominantly focused on clinical aspects, overlooking its broader impact on the quality of life of affected children and the functioning of their families. This study seeks to fill that gap by assessing the impact of recurrent epistaxis on children's QoL, family dynamics, and parental stress in Saudi Arabia's Eastern region.

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Background: Neuronal ceroid lipofuscinoses (NCLs) represent a heterogeneous group of inherited metabolic lysosomal disorders characterized by neurodegeneration. This study sought to describe the clinical and molecular characteristics of NCLs in Saudi Arabia and determine the most common types in that population.

Methods: A retrospective review of electronic medical records was conducted for 63 patients with NCL (55 families) from six tertiary and referral centers in Saudi Arabia between 2008 and 2022.

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