Neuroimaging manifestations and genetic heterogeneity of Walker-Warburg syndrome in Saudi patients

BackgroundWalker-Warburg syndrome (WWS), an autosomal recessive disease, is the most severe phenotype of congenital muscular dystrophies. Its diagnosis remains primarily clinical and radiological. Identification of its causative variants will assist genetic counseling. We aim to describe genetic and neuroimaging findings of WWS and investigate the correlation between them.MethodsWe retrospectively reviewed the clinical, genetic and neuroimaging findings of eleven Saudi neonates diagnosed with WWS between April 2012 and December 2018 in a single tertiary care center. Correlation between neuroimaging and genetic findings was investigated.ResultsAll patients had macrocephaly except one who had intrauterine growth restriction. Dysmorphic features were identified in nearly half of the patients. Creatine kinase levels were available in nine patients and were always elevated. Homozygous pathogenic variants were identified in all patients spanning POMT1 (n = 5), TMEM5 (n = 3), ISPD (n = 2) and POMT2 (n = 1) including one patient who had a dual molecular diagnosis of ISPD and PGAP2. On neuroimaging, all patients showed cobblestone cortex, classical infratentorial findings, and hydrocephalus. Other cerebral cortical malformations included subependymal heterotopia, polymicrogyria and open-lip schizencephaly in four, two and one patients, respectively. Buphthalmos and microphthalmia were the most prevalent orbital findings and found in all patients either unilaterally or bilaterally.ConclusionWWS is a genetically heterogeneous disorder among Saudis. The case with an additional PGAP2-related phenotype exemplifies the increased risk of dual autosomal recessive disorders in consanguineous populations. MRI is excellent in demonstrating spectrum of WWS brain and orbital malformations; however, no definite correlation could be found between the MRI findings and the genetic variant.     

Serum decoy receptor 3 (DcR3): a promising biomarker for atopic asthma in children

Bronchial asthma is a common chronic inflammatory disease with high prevalence and morbidity, particularly in school-aged children. Decoy receptor 3 (DcR3) is a soluble decoy receptor that belongs to the tumor necrosis factor receptor superfamily and has been reported to be elevated in several allergic and inflammatory diseases. This study was designed to determine the role of DcR3 in pediatric asthma. The serum DcR3 levels were analyzed in 85 subjects (60 pediatric patients with bronchial asthma and 25 age- and sex-matched healthy control children) using the enzyme-linked immunosorbent assay technique. Patients with asthma had higher serum DcR3 levels than healthy control subjects (p = 0.007). In the atopic group of patients with asthma, the serum DcR3 levels were inversely correlated with the asthma control test score (R =  − 0.392, p = 0.039). Overall, DcR3 could be a promising biomarker of atopic asthma, specifically in pediatric patients.

     

Neuroanatomical MRI study: reference values for the measurements of brainstem,cerebellar vermis,and peduncles

Objectives:To set age-specific normal reference values for brainstem, cerebellar vermis, and peduncles measurements and characterize values’ variations according to gender, age, and age by gender interaction.Methods:565 normal brain magnetic resonance examinations with normal anatomy and signal intensity of the supra- and infratentorial structures were categorized into six age groups (infant, child, adolescent, young adult, middle-age adult, and old aged adults). Patients with congenital malformations, gross pathology of the supra- or infratentorial brain, brain volume loss, developmental delay, metabolic disorders, and neuropsychological disorders (n = 2.839) were excluded. On midsagittal T₁ weighted and axial T₂ weighted images specific linear diameters and ratios of the brainstem, cerebellar vermis, and peduncles were attained. Two observers assessed a random sample of 100 subjects to evaluate the inter- and intraobserver reproducibility. Intraclass correlation coefficients, means ± standard deviation, one and two-way analysis of variance tests were used in the statistical analysis.Results:Good to excellent inter- and intraobserver measurements’ reproducibility were observed, except for the transverse diameter of the midbrain, the anteroposterior diameter of the medulla oblongata at the pontomedullary and cervicomedullary junctions, cerebellar vermis anteroposterior diameter, and thickness of the superior cerebellar peduncle. Age-specific mean values of the investigated measurements were established. A significant gender-related variation was recorded in the anteroposterior diameter of the basis pontis (p = 0.044), the anteroposterior diameter of the medulla oblongata at the cervicomedullary junction (p = 0.044), and cerebellar vermis height (p = 0.018). A significant age-related change was detected in all measurements except the tectal ratio. Age by gender interaction had a statistically significant effect on the tectal ratio, inferior, and middle cerebellar peduncles’ thickness (p = 0.001, 0.022, and 0.028, respectively).Conclusion:This study provides age-specific normal mean values for various linear dimensions and ratios of the posterior fossa structures with documentation of measurements’ variability according to gender, age, and their interaction.Advances in knowledge:It provides a valuable reference in the clinical practice for easier differentiation between physiological and pathological conditions of the posterior fossa structures especially various neurodegenerative diseases and congenital anomalies.     

Prevalence of post-traumatic stress disorder during the COVID-19 pandemic in Saudi Arabia

BackgroundThe coronavirus diseases of 2019 (COVID-19) pandemic was classified as one of the worst pandemics in the 21st century. Its rapid transmission, unpredicted mortality rate, and the uncertainty surrounding its transmission method have evoked additional fear and anxiety. Nonetheless, to the best of our knowledge, no prior study has explored PTSD prevalence three months after the start of the quarantine procedures in Saudi Arabia nor has examined PTSD prevalence by three different methods.ObjectiveThis observational cross-sectional study aimed to identify the prevalence, severity, and influencing factors of PTSD in different regions of Saudi Arabia three months after the onset of the quarantine procedures related to the COVID-19 pandemic.MethodsThrough the month of June 2020, 1374 people (49.05% men and 50.95% women) completed a 35-item, 10-minute online. The prevalence of PTSD was measured using PCL-S (specific for COVID-19) that assesses the 17 symptoms of PTSD. Resilience was measured using 2-items Arabic version of the Connor-Davidson Resilience Scale 2 (CD-RISC 2).ResultsWe calculated the prevalence by three methods, namely, PTSD cut-off score, criteria, and combined, and the prevalence was 22.63%, 24.8%, and 19.6%, respectively. Female participants showed higher prevalence than male. As well, participants who were either tested positive or suspected of having been infected with COVID-19 showed higher PTSD prevalence. Higher resilience was associated with lower PTSD prevalence.ConclusionsThis was the first study to report PTSD prevalence by three differential methods three months after the onset of the quarantine procedures related to the COVID-19 pandemic in Saudi Arabia. We observed a significant impact of the COVID-19 pandemic in the Saudi population; therefore, great attention should be performed in implementing new procedures that deal with the highlighted risk factors, especially in vulnerable groups, to overcome the psychological impact of the COVID-19 pandemic.     

Ameliorative effects of vitamin B17 on the kidney against Ehrlich ascites carcinoma induced renal toxicity in mice

Cancer is the major cause of death and many factors that lead to its occurrences, such as environmental pollution and pesticides and other factors. Ehrlich carcinoma development depends on many things associated with the environment, nutrition, personal habits, and family history. The present study aimed to evaluate the potential protective effects of vitamin B17 (VB17) against Ehrlich ascites carcinoma (EAC) that induced kidney toxicity in female mice. The mice were divided into five groups (first group, control group; second group, VB17 group; third group, EAC group; fourth group, pretreated EAC with VB17; fifth group, cotreated EAC with VB17). Results showed the VB17 in pretreated (G4) and cotreated (G5) groups lead to an improvement in DNA damage and cytological examination, in addition significantly (P < .05) increase in Na⁺, red blood cell, hemoglobin, hematocrit value, mean corpuscular hemoglobin (MCH), and MCH concentration, whereas significantly (P < .05) decrease in urea, creatinine, K⁺, platelets, and white blood cells while insignificant (P < .05) changes in mean corpuscular volume when compared to the EAC group. Many histopathological changes were observed in kidney sections in EAC as marked damage and degenerated, glomerular atrophy, the Malpighian corpuscles that lost their characteristic configuration. On the other hand, a moderate improvement and arrangement in the kidney histological structure in pretreated VB17 + EAC, while a mild enhancement and arrangement of the kidney structure in cotreated EAC + VB17. In addition, depletion in renal P53 and PCNA protein expression compared with the EAC group. It could be concluded that VB17 has a potential renal protective effect against EAC cells induced kidney injury.     

Optimization and evaluation of venlafaxine hydrochloride fast dissolving oral films

Three factors, three levels (3³) full factorial design was used to develop venlafaxine HCl fast dissolving oral films (FDOFs) to optimize the concentrations of the film forming polymer; hydroxypropyl methylcellulose HPMC (X1), superdisintegrant; sodium starch glycolate SSG, (X2) and glycerol as the film plasticizer (X3). Effects of the three factors on the disintegration time (Y1), swelling index (Y2), and dissolution efficiency at 15 min; DE%15 (Y3) of the prepared FDOFs were evaluated by using statistical models. The optimized film formula was characterized in term of x-ray powder diffraction (XRPD), differential scanning calorimetry (DSC) and morphological characteristics.Disintegration time was found to increase with the increase in HPMC (X1) concentration, and the shortest disintegration time (21.67 ± 2.08 s) was observed in case of F2 formula (lowest HPMC level and highest glycerol level in absence of SSG). The highest swelling index (3.64 ± 0.59) was observed in case of film formula F1 (medium concentrations of both HPMC and glycerol and highest SSG concentration. The results also indicated that as the concentration of HPMC increased the DE%15 decreased. SSG (X2), with highest value (72.33 ± 1.71%) was recorded for in case of F12 (using 2% HPMC, 5%SSG and 1.5% glycerol). The optimized FDOF formula derived by the statistical models suggested 2% HPMC, 5% SSG, and 1% glycerol.The data obtained from DSC and XRPD revealed no interaction between drug and FDOT excipients. In addition, XRPD studies proved that the venlafaxine HCl was homogeneously dispersed in the film matrix.     

Academic advising and student support: Help-seeking behaviors among Saudi dental undergraduate students

Objective

The purpose of this study was to assess the use of and satisfaction with the academic-advising and student-support systems available to undergraduate students in the College of Dentistry at the University of Dammam. In addition, the study aimed to also identify factors that explained the help-seeking behavior of students which they used to solve academic issues.

Materials and methods

Students enrolled in the five-year Bachelor of Dental Surgery (BDS) program in 2012–13 and 2013–14 first-year students were invited to respond to a self-administered questionnaire.

Results

The results showed that 66.2% of students had discussed academic issues with their advisor at least once, with a frequency ranging from zero to six times. Most students reported that their advisors were readily available, listened intently to their needs and questions, and helped them solve their problems. However, only 7.6% of students relied primarily on advisors for help with academic issues, whereas 51% depended first on colleagues and 13.8% did not seek help and relied on themselves. In total, 17.2% of students were very or somewhat satisfied with the academic advising system. Males had lower odds of discussing issues with their advisors, and the odds were higher with advisors who were more available (OR = 0.25 and 3.74, respectively). Alerting students to important dates in the academic calendar significantly increased the odds that a student would depend primarily on academic advisors for advice related to academic issues (OR = 6.53).

Conclusions

Few students were satisfied with the academic support system. We need to train advisors to help them develop their skills and knowledge and to enable them to provide the support needed by the students.     

Evaluation of knowledge and behavior of workers in Prince Mohammed International Airport in Western Saudi Arabia regarding public health emergency measures applied during Hajj season 2014

Objectives:

To evaluate the knowledge and behavior of workers at a Saudi airport regarding public health emergency measures applied during Hajj season.

Methods:

This study is a cross-sectional study conducted at the Prince Mohammed International Airport in Al-Madinah Al-Munawwarah, Saudi Arabia between August and September 2014. Data were collected by semi-structured questionnaires during personal interviews. Non-random purposive sampling was conducted to target workers at higher risk of acquiring infection from travellers.

Results:

One hundred and eighty-six participants were recruited of whom 92.5% were males. The study participants were workers in 8 different sectors. Twenty-six percent of the participants were health workers. Non-health workers were more likely to be concerned on acquiring infection while working at the airport compared with health workers (p=0.023). The most commonly feared disease was Ebola viral disease (EBV) among 30% of health workers, and 47% of non-health workers. Approximately 47% of non-health workers reported no knowledge of the procedures implemented during public health emergencies. The proportion of participants who received public health related training among non-health workers was significantly lower compared with health workers (p<0.00001).

Conclusion:

More emphasis should be given to educating airport workers on the potential health threats at the airport. Specific guidelines for public health emergencies at the airport should be established and communicated with airport sectors.Airports are frontier gates where proper public health measures are likely to reduce the possibility of allowing the entrance of communicable disease to a country. According to the World Health Organization (WHO) International Health Regulations mandate WHO member states to ensure that every designated point of entry is equipped with staff and instruments enabling smooth movements of the travellers while maintaining appropriate public health measures.1 Maintaining such regulations is likely to enhance proper travellers’ movement during public health emergencies by reducing possible interference between application of preventive public health measures, and the ability of travellers to access the designated points of entry. Additionally, ensuring the application of public health measures might aid in preventing the occurrence of any public health emergencies. A public health emergency is defined as any situation with health consequences that are likely to overwhelm the community’s routine capability of addressing them. A health situation can be considered as an emergency if there is a risk due to timing, such as facing emerging diseases threats during Hajj season, scale, as with an overwhelming number of causalities, or due to the unpredictability of the situation. Defining the nature of potential public health emergencies is crucial to allow competent development of preparedness plans.2 Having a large number of passengers arriving at a particular point of entry during a limited time is a burden on the available health services. A meticulous state of readiness is required to respond to any risk of spreading a communicable disease. The state of readiness is maintained by several steps including preparation of staff, equipment, and buildings.3,4 The burden of not maintaining effective public health event response measures is aggravated if an epidemic is announced in a particular region of the globe where travellers form these areas are scheduled to arrive in the country. During the Hajj season of 2014, the Ebola Virus Disease (EVD), which is a viral hemorrhagic disease, was announced as an epidemic disease in Guinea, Liberia, and Sierra Leone in West Africa. Additionally, a localized spread of the virus was announced in certain areas of Nigeria.5 The Saudi Arabian government, as a preventive measure, decided to prevent citizens of EVD-affected countries from entering the country. However, nationals of Nigeria were exempt as no extended transmission of EVD was announced.6,7 Nonetheless, several procedures were applied to prevent the transmission of Ebola virus among thousands of Nigerian pilgrims arriving in the country. These measures were mainly related to exit screening of travellers in Nigeria,8 and entry screening at points of entry in Saudi Arabia. Additionally, the Ministry of Health in Saudi Arabia produced response plans for infectious diseases (Middle East Respiratory Syndrome [MERS] and EVD) to be implemented during Hajj.9 There are many potential sources of infectious disease transmission from a single infected individual. The presence of infected travellers, such as an EVD infection, on an aircraft increases the risk of transmitting infection to neighboring passengers and flight crew. Airport workers, such as ground workers handling cleaning of aircrafts and lavatories, are at risk of the infection, especially with the presence of spilled infectious materials. Airport workers handling the flow of passengers during busy times are at risk of acquiring infection such as immigration, customs, security, and healthcare workers. Therefore, all of these individuals have to be aware of the potential health threats at the airport, should be aware of preventive methods, how to use preventive methods, and know what to do when facing a public health emergency event in the airport. Prince Mohammed Airport (Al-Madinah, Saudi Arabia) workers’ level of knowledge of the potential health threat at the airport is currently not known. Additionally, the attitude and practice of the staff when a public health emergency is announced in the airport is not measured. The significance of this study stems from the ability to investigate the degree to which airport workers, at the time of dealing with travellers during Hajj season, were able to deal with potential urgent infectious cases, and to adhere to the relevant protective guidelines.