Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.

BACKGROUND: Inherited cystic kidney disorders are a common cause of end-stage renal disease. Over 50 ciliopathy genes, which encode proteins that influence the structure and function of the primary cilia, are implicated in cystic kidney disease. METHODS: To define the phenotype and genotype of cystic kidney disease in fetuses and neonates, we correlated antenatal ultrasound examination and postnatal renal ultrasound examination with targeted exon sequencing, using a renal gene panel. A cohort of 44 families in whom antenatal renal ultrasound scanning findings in affected cases included bilateral cystic kidney disease, echogenic kidneys or enlarged kidneys was investigated. RESULTS: In this cohort, disease phenotypes were severe with 36 cases of stillbirth or perinatal death. Extra renal malformations, including encephalocele, polydactyly and heart malformations, consistent with ciliopathy phenotypes, were frequently detected. Renal gene panel testing identified causative mutations in 21 out of 34 families (62%), where patient and parental DNA was available. In the remaining 10 families, where only parental DNA was available, 7 inferred causative mutations were found. Together, mutations were found in 12 different genes with a total of 13 novel pathogenic variants, including an inferred novel variant in NEK8. Mutations in CC2D2A were the most common cause of an antenatal cystic kidney disease and a suspected ciliopathy in our cohort. CONCLUSIONS: In families with ciliopathy phenotypes, mutational analysis using a targeted renal gene panel allows a rapid molecular diagnosis and provides important information for patients, parents and their physicians.

Awareness of the Risk of Chronic Use of Steroid Causing Cataract in Al Ahsa City, Saudi Arabia.

Introduction The lens, essential for vision, can be impaired by cataracts, leading to partial or complete reversible vision loss. Common risk factors include aging, diabetes, and steroid use, with significant financial implications. Limited awareness in Saudi Arabia necessitates further research to reduce cataract prevalence and increase knowledge about steroid-induced cataracts. Methodology This was a cross-sectional study in Al Ahsa City, Saudi Arabia that aims to assess awareness of cataracts induced by long-term steroid use. Data was collected via an online survey and analyzed using Statistical Package for Social Sciences (SPSS) version 29 (IBM Corp., Armonk, NY, USA). Results Our study results show that 69.8% (n=291) of participants were female, and 30.2% (n=126) were male, with the majority (62.6%, n=261) having a university education. Notably, 91.1% (n=380) reported no steroid use, while 8.9% (n=37) reported long-term use, and 10.1% (n=42) used steroids topically. There are moderate awareness levels regarding cataract and steroid associations, with 68.1% (n=284) recognizing topical steroids as the common culprits. Logistic regression highlighted the positive correlation between knowledge of cataract risks due to steroid use and actual steroid use, corroborated by a notable 73.0% (n=27) steroid usage among high-awareness individuals. Conclusion Our study underscores moderate awareness regarding steroid-related cataract risks in Al Ahsa City. Educational status significantly influenced understanding, highlighting the importance of targeted health education initiatives.

Prevalence of polypharmacy and medication-related quality of life among adult patients in Al-Ahsa, Saudi Arabia.

Polypharmacy, often defined as the concurrent use of five or more medications, has become increasingly common due to various factors, including shifts in lifestyle and a rise in health-related issues among individuals. However, using multiple medications could bring more issues to the patient, as it is linked to poor health outcomes, including medication nonadherence, adverse pharmacological effects, and decreased quality of life (QoL). This study aimed to determine the prevalence of polypharmacy and identify drug-related problems among adult patients in Al-Ahsa. A cross-sectional study was conducted among adult patients living in Al-Ahsa, Saudi Arabia, taking five or more medications. A self-administered questionnaire was distributed among the target population using an online survey. The questionnaire included sociodemographic data (i.e., age, sex, education, etc.), a questionnaire to assess behaviors regarding the use of polypharmacy, and a 10-item questionnaire to measure medication-related quality of life (MRQoL). In total, 196 of the 1,088 patients surveyed took five or more medications, indicating an 18% prevalence of polypharmacy. Among the 196 patients, 26.5% reported poor medication-related QoL. In univariate analysis, sex, occupational status, average monthly income, hypertension, asthma, difficulty managing medications, and side effects experienced were significantly associated with MRQoL. Independent significant predictors of poor MRQoL were having asthma and difficulty managing medications. The prevalence of poor medication-related quality of life among adult patients in our region was 26.5%, lower than that in previous studies. Poor MRQoL was associated with lower monthly income, hypertension, asthma, side effects, and difficulty managing medications.

Sickle Cell Disease Knowledge and Reproductive Decisions: A Saudi Cross-Sectional Study.

Background and Aim: Sickle cell disease (SCD) is an autosomal recessive disorder. Decisions following premarital screening results might be influenced by several factors. Thus, this study aims to assess the knowledge and beliefs toward SCD and reproductive decisions. Material and Methods: A cross-sectional study was conducted among adults in the eastern province of Saudi Arabia. Data was collected using a web-based questionnaire. Participants were divided into two groups based on their knowledge scores. Results: A total of 390 participants were recruited with a mean age of 28.6 years. The majority (90.5%) of participants had general knowledge about the disease mode of inheritance however, 66.9% had poor knowledge about the disease overall. Regarding knowledge level, there was no statistically significant difference between the non-healthy group (diseased and carrier) and healthy participants (P=0.304). Moreover, the participants' decisions about choosing future partners were more likely to be affected among those with prior knowledge about the disease (p=0.008). However, 152 (91.6%) male participants with prior knowledge would change their decision about selecting a future partner compared to 225 (92.4%) female participants. Regarding reproduction, only 38.5% of participants were aware of in vitro fertilization (IVF) as an assistive reproductive technology. Furthermore, female participants believed that IVF is a way to have healthy babies and would consider it despite the cost more than male participants (p=0.0001, p=0.007 respectively). Conclusion: SCD is an inherited disease with economic, physical, and psychological burdens. However, curative options are costly, and hence, prevention is key. Therefore, healthcare decision-makers should consider implementing policies to minimize the financial burden that may still affect society despite the availability of free medical care. This study warrants extensive community-based education programs that may contribute toward cost savings. It also highlights the importance of premarital counselling for disease and carrier people including alternative reproduction options.

Prevalence of Dry Eye Disease and Its Risk Factors Among the General Population of Saudi Arabia: A Cross-Sectional Survey.

BACKGROUND: Dry eye disease is a multifactorial chronic disorder of the ocular surface, which leads to symptoms of discomfort and distress. Dry eye disease is a global health concern and is one of the most frequent ocular diseases encountered in an ophthalmology clinic. The estimated prevalence of dry eye disease in the literature ranged from 7.4% to 93.2%. Saudi Arabia's population, especially in the eastern province, is at great risk of developing dry eye disease, however, there is hardly any nationwide study that assesses the prevalence of dry eye disease among the general population and its risk factors. AIM: The aim is to estimate the prevalence of dry eye disease and determine its risk factors among the general population of Saudi Arabia. METHODS: This study was a cross-sectional study conducted on the general population of Saudi Arabia between September 2022 and November 2022. A convenient sampling technique was deployed for participant recruitment, where a self-administered questionnaire was created and dispersed to the general population all over the country with an invitation to participate in the study. Dry eye disease prevalence was assessed using Ocular Surface Disease Index survey. The Chi-square test was used to test for factors associated with the prevalence of dry eye disease, and undiagnosed dry eye disease. Multivariate logistic regression was also used to determine risk factors for dry eye disease. RESULTS: A total of 1,381 participants were included in this study. The prevalence of dry eye disease among the general population of Saudi Arabia was observed to be (17.5%). Among the participants (11%) had mild dry eye disease, (4.7%) had moderate dry eye disease, and (1.7%) had a severe dry eye disease. Among those observed to have a dry eye disease, (58.09%) were not previously diagnosed. The following factors were observed to be significantly associated with having dry eye disease, being female, having thyroid disease, having systemic lupus erythematosus/rheumatoid arthritis, using antidepressants, using antihistamine/decongestants, using electronic devices for a prolonged time, using contact lenses, having a history of eye surgery, history of conjunctival/eyelid infection, and history corneal abrasions/erosions/ulceration. CONCLUSION:  This study revealed that the prevalence of dry eye disease among the general population of Saudi Arabia is notably lower than what was observed in other local studies and similar to what was found in some global studies. Adjusted binary multivariate logistic regression revealed that the risk factors were only: being female, using antidepressants, using antihistamines/decongestants, and prolonged use of electronic devices.