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1.
Sci Rep ; 14(1): 8411, 2024 04 10.
Article En | MEDLINE | ID: mdl-38600369

The primary aim of this study was to estimate the incidence of posterior fossa anomalies (PFA) and assess the associated outcomes in King Abdulaziz Medical City (KAMC), Riyadh. All fetuses diagnosed by prenatal ultrasound with PFA from 2017 to 2021 in KAMC were analyzed retrospectively. PFA included Dandy-Walker malformation (DWM), mega cisterna magna (MCM), Blake's pouch cyst (BPC), and isolated vermian hypoplasia (VH). The 65 cases of PFA were 41.5% DWM, 46.2% MCM, 10.8% VH, and 1.5% BPC. The annual incidence rates were 2.48, 2.64, 4.41, 8.75, and 1.71 per 1000 anatomy scans for 2017, 2018, 2019, 2020, and 2021, respectively. Infants with DWM appeared to have a higher proportion of associated central nervous system (CNS) abnormalities (70.4% vs. 39.5%; p-value = 0.014) and seizures than others (45% vs. 17.9%; p-value = 0.041). Ten patients with abnormal genetic testing showed a single gene mutation causing CNS abnormalities, including a pathogenic variant in MPL, C5orf42, ISPD, PDHA1, PNPLA8, JAM3, COL18A1, and a variant of uncertain significance in the PNPLA8 gene. Our result showed that the most common PFA is DWM and MCM. The autosomal recessive pathogenic mutation is the major cause of genetic disease in Saudi patients diagnosed with PFA.


Dandy-Walker Syndrome , Nervous System Malformations , Pregnancy , Female , Infant, Newborn , Humans , Retrospective Studies , Dandy-Walker Syndrome/diagnostic imaging , Dandy-Walker Syndrome/epidemiology , Dandy-Walker Syndrome/genetics , Prenatal Diagnosis , Fetus/pathology , Ultrasonography, Prenatal , Magnetic Resonance Imaging
2.
Saudi J Kidney Dis Transpl ; 31(6): 1388-1394, 2020.
Article En | MEDLINE | ID: mdl-33565451

End-stage organ damage is the major cause of death worldwide. The number of donors is low, and one of the challenging phases in organ donation is the availability of organ donors. There are many studies that suggest a strong correlation between knowledge and beliefs toward organ donation. A study conducted among Health-Care Providers in the Intensive Care Units at a Tertiary Center at Riyadh reported that only 57% of the health-care providers in the Intensive Care Unit were willing to donate their organs. The objective of our study was to evaluate the knowledge, attitude, and awareness of organ donation and transplantation among health-care providers at different hospitals around the Kingdom of Saudi Arabia. The data of this cross-sectional descriptive study were collected between February and July 2018 in different hospitals all around the Kingdom of Saudi Arabia. The investigators formulated a questionnaire based on several published studies. Ethical approval was obtained from the Unit of Biomedical Ethics, Research Committee at King Abdul Aziz University. Of the 241 participants, 130 (53.9%) were female. In addition, 110 (45.6%) of them were medical residents. Moreover, 224 (92.9%) participants were aware of the concept of organ donation. The overall level of knowledge is good (55.2%).The study showed 62.2% have participated in the organ donation program for their close relatives only. In conclusion, the level of perception and knowledge about organ donation among health-care providers was inadequate, although they showed positive attitudes toward this issue.


Health Knowledge, Attitudes, Practice , Health Personnel/psychology , Organ Transplantation , Tissue and Organ Procurement , Adult , Attitude of Health Personnel , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Saudi Arabia , Surveys and Questionnaires , Young Adult
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