BackgroundInherited 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.MethodsTo 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.ResultsIn 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.ConclusionsIn 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.

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.

Objectives: Parental attitude is one of the important factors that affect medication use and adherence among pediatrics. Our study aims to assess the Knowledge, Attitude and Practice (KAP) of caregivers regarding medication use in children. Methods: A cross sectional study was conducted in the inpatient and outpatient pediatrics department at a tertiary care hospital over 6 months. We surveyed caregivers with children under age 18 to determine the medication administration practices. A validated questionnaire was administered to assess the Knowledge, Attitude and Practices (KAP) of the study population and responses were obtained. Correlations analysis was performed to assess correlation among various domains. Results: A total of 149 caregivers were enrolled in the study. Majority of the primary caregivers surveyed were illiterate (65%), homemaker mothers (64%). 64% and 82.7% were unaware about 1 teaspoon and 1 tablespoon dosing respectively. Caregivers frequently reported stoppage of medicines once the child feels better (50%). Dissolving of solid oral dosage forms and mixing them with milk (61.7%) was the most frequently reported method of administration. 34.9% caregivers reported use of nonstandardized liquid dosing instruments. Spearman's correlation analysis showed significant correlation between education of caregiver and knowledge (p,0.01; 0.34) as well as attitude (p,0.01; 0.44). Medication errors were reported significantly more in the outpatient setting. Conclusions: The caregivers of pediatric population had poor knowledge regarding medicine administration and measurement of dosage forms. Active patient counselling sessions by healthcare professionals can make an impact among caregivers regarding medication utilization practices of pediatric dosage forms.

Objectives: Parental attitude is one of the important factors that affect medication use and adherence among pediatrics. Our study aims to assess the Knowledge, Attitude and Practice (KAP) of caregivers regarding medication use in children. Methods: A cross sectional study was conducted in the inpatient and outpatient pediatrics department at a tertiary care hospital over 6 months. We surveyed caregivers with children under age 18 to determine the medication administration practices. A validated questionnaire was administered to assess the Knowledge, Attitude and Practices (KAP) of the study population and responses were obtained. Correlations analysis was performed to assess correlation among various domains. Results: A total of 149 caregivers were enrolled in the study. Majority of the primary caregivers surveyed were illiterate (65%), homemaker mothers (64%). 64% and 82.7% were unaware about 1 teaspoon and 1 tablespoon dosing respectively. Caregivers frequently reported stoppage of medicines once the child feels better (50%). Dissolving of solid oral dosage forms and mixing them with milk (61.7%) was the most frequently reported method of administration. 34.9% caregivers reported use of nonstandardized liquid dosing instruments. Spearman's correlation analysis showed significant correlation between education of caregiver and knowledge (p,0.01; 0.34) as well as attitude (p,0.01; 0.44). Medication errors were reported significantly more in the outpatient setting. Conclusions: The caregivers of pediatric population had poor knowledge regarding medicine administration and measurement of dosage forms. Active patient counselling sessions by healthcare professionals can make an impact among caregivers regarding medication utilization practices of pediatric dosage forms.