Publications by authors named "I Al Rashdi"

Purpose: Health technologies are advancing rapidly and becoming more expensive, posing a challenge for financing healthcare systems. Health technology assessment (HTA) improves the efficiency of resource allocation by facilitating evidence-informed decisions on the value of health technologies. Our study aims to create a customized HTA roadmap for Oman based on a gap analysis between the current and future status of HTA implementation.

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The vegetation in the Arabian Peninsula experiences drought, heat, soil salinity, and low fertility, mainly due to low phosphorus (P) availability. The beneficial mycorrhizal symbiosis between plants and arbuscular mycorrhizal fungi (AMF) is a key factor supporting plant growth under such environmental conditions. Therefore, AMF strains isolated from these soils might be useful as biotechnological tools for agriculture and revegetation practices in the region.

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Mutations in the C19orf12 gene are known to cause mitochondrial membrane protein-associated neurodegeneration (MPAN), which is a neurodegeneration with brain iron accumulation (NBIA) type 4 disorder. To the best of our knowledge, this is the first report of a genetically confirmed case of MPAN from Oman. A novel homozygous deletion of exon 2 of the C19orf12 gene was confirmed on the proband, a seven-year-old girl, who presented with gait instability.

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The Sultanate of Oman is a rapidly developing Muslim country with well-organised government-funded health care services, including primary, secondary and tertiary, and rapidly expanding medical genetic facilities. At the present time, the Omani population is characterised by a rapid rate of growth, large family size, consanguineous marriages, and the presence of genetic isolates. The preservation of a tribal structure in the community coupled with traditional isolation has produced unique and favourable circumstances for building genealogical records and the study of genetic disease.

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Leprechaunism is a rare autosomal recessive disorder which is usually fatal in early infancy or childhood. There is a paucity of genetic data on leprechaunism in the Arab population. A 4-month-old boy presented with jaundice, asymptomatic hypoglycaemia and growth retardation with features of leprechaunism.

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