Saudi Medical Journal最新文献

Objectives: To conduct a community-wide screening of the Saudi population for chronic kidney disease risk factors.

Methods: This study utilized a non-selective, exploratory point-of-care screening approach involving 215 participants in Riyadh, Saudi Arabia, during a kidney disease awareness campaign for World Kidney Day in March 2022. Participants were randomly selected, and their estimated glomerular filtration rates (eGFRs) were measured to assess kidney function.

Results: The findings revealed that 4% of participants had eGFRs less than 60 mL/min/1.73 m², 34% had eGFRs between 60 and 90 mL/min/1.73 m², and the rest had eGFRs over 90 mL/min/1.73 m². Key risk factors for lower eGFRs included older age, overweight or obesity, and a history of hypertension or diabetes.

Conclusion: The study indicates that community-based screening programs using point-of-care testing can effectively detect kidney diseases early, facilitating prompt health monitoring and interventions. Further research is necessary to enhance screening criteria for estimating eGFRs in similar settings.

Objectives: To confirm a preoperative scoring system devised by the Modified Randhawa Model.

Methods: This retrospective study was performed in the period between October 2017 to October 2023 on every patients hospitalized for elective laparoscopic cholecystectomy in the Surgery Department, National Guard Hospital in Riyadh, Saudi Arabia. A preoperative scoring system, devised using the Modified Randhawa Model, was applied to each patient retrospectively. The preoperative score was compared to the intraoperative degree of difficulty.

Results: The history of previous biliary inflammation, the impacted stone, the palpable gall bladder, the more gall bladder wall thickness, the higher body mass index and older ages were significantly associated with more difficult surgeries and more operative time. The preoperative scoring system devised by the Modified Randhawa Model is valid.

Conclusion: The study found that the Modified Randhawa Model scoring system is valid, effective and reliable predictor of LC difficulty in Saudi Arabia.

Objectives: To characterize the clinical and genetic spectrum of genodermatoses in Southwestern Saudi Arabia, the present study examines the impact of consanguinity on this particular population, and proposes a tailored premarital genetic screening protocol.

Methods: A retrospective cross-sectional study of 32 patients diagnosed with genodermatoses during the study period at a tertiary hospital (King Khalid Hospital, Najran) were included. Genetic screening was performed for patients with suspected genodermatoses based on clinical findings, using whole-exome sequencing (WES), specifically employing next-generation sequencing (NGS) technology. Clinical and genetic analysis data were extracted from medical records.

Results: Among 32 patients diagnosed with genodermatoses, the majority were aged 1-10 years (50%), male (56.3%), and Saudi nationals (87.5%). Autosomal dominant inheritance was most prevalent (56.3%), followed by autosomal recessive and X-linked patterns (each 15.6%). Consanguinity was observed in 71.9% of cases, predominantly first-degree (53.1%). Twenty distinct genodermatoses were identified, with Ichthyosis Vulgaris being the most frequent (15.6%). Consanguinity showed a strong association with genodermatosis subtype (adjusted p=0.002176; Cramér's V=0.942), while inheritance patterns were significantly linked to genodermatosis subtype (adjusted p=0.0000053512; Cramér's V=1.000), but not to age, sex, or nationality. Most patients (90.6%) survived with complications.

Conclusion: Consanguinity contributes to a higher burden of autosomal dominant genodermatoses in Southwestern Saudi Arabia. Implementation of a premarital targeted genetic screening, integrated with culturally sensitive counseling and feasibility considerations, may reduce disease incidence and associated healthcare costs.

Objectives: To evaluate the simplified version of the Arabic matrix test in individuals with normal hearing to derive reference ranges for future measurements with the test material.

Methods: The test was conducted in 80 native Arabic individuals (20 adults and 60 children across different age groups between 5-10 years) from November 2020 to Mar 2023. Evaluation measurements were conducted in adults and children to derive the reference psychometric functions and assess the training effect. The test list equivalence was verified only in the adults group.

Results: The reference ranges for speech-intelligibility in noise for 80% thresholds or speech-recognition threshold (SRT80) were as follows: -0.8 ± 2.4 dB signal-to-noise ratio (SNR) (Group 1; 5-6 years), -2.4 ± 2.5 dB SNR (Group 2; 7-8 years) and -2.9 ± 2.3 dB SNR (Group 3; 9-10 years).

Conclusion: The study demonstrated an influence of age on the measured word recognition performance in children, highlighting the test's suitability for this population. The reliability of the test was 1.1 dB for 80% threshold and 1.4 dB for 50% threshold. With promising results, this test can be used as a new tool in speech audiometry in audiological diagnostics and management with special focus on modern standard Arabic for children.

Objectives: To assess the clinical and functional outcomes of 110 patients with spinal muscular atrophy (SMA) program who received nusinersen treatment in the Kingdom of Saudi Arabia (KSA).

Methods: Motor assessments were performed using the Children's Hospital of Philadelphia infant test of neuromuscular disorder (CHOP-INTEND) and Hammersmith infant neurological examination (HINE) for type 1 SMA, the Hammersmith Functional Motor Scale-Expanded (HFMSE) for types 2 and 3 SMA; the 6-minute walk test (6MWT) for ambulant type 3 SMA, and the revised upper limb module (RULM) for types 2 and 3 SMA.

Results: Data included all SMA types (type 1, 2.72%; type 2, 27.27%; type 3, 69.09%). The median (IQR) ages at diagnosis, therapy initiation, and symptoms onset were 9.07 (3.67-17.28), 12.04 (5.39-20.29), and 2.25 (0.75-4.00) years, respectively. The median (IQR) HFMSE score was 34 (12.00-46.00) at baseline (n=58 patients) and 29.00 (14.50-50.50) at month 20 (n=33 patients). Clinically meaningful improvement was observed in 23 patients, including 12 with an improvement >4 points.

Conclusion: The study demonstrates that baseline and follow-up data from multiple motor and functional assessment scales were essential for evaluating disease progression and treatment response in SMA.

This review evaluates CT radiation dose levels in Saudi Arabia relative to national Diagnostic Reference Levels (DRLs) established by the Kingdom of Saudi Arabia (KSA) and the United Kingdom (UK). A total of 31 studies published between 2015 and 2025 were reviewed, covering adult and pediatric CT protocols for head, chest, abdomen, pelvis, and multiphase scans. The review highlights variations in the volumetric computed tomographic dose index (CTDIvol), and the dose-length product (DLP) values among different institutions in KSA. For adult protocols, fifteen studies reported dose metric values below the KSA NDRLs, while 8 studies reported values below the UK NDRLs. In contrast, among pediatric studies, approximately 90% of the reported dose metrics were lower than the NDRLs in both KSA and the UK. The results emphasize the importance of implementing standardized protocols to enhance the KSA national DRLs and expand the range of examination protocols, particularly for pediatric patients.