Students' perception of asynchronous versus synchronous distance learning during COVID-19 pandemic in a medical college, southwestern region of Saudi Arabia.

BACKGROUND: COVID-19 preventive measures required a drastic shift to online teaching-learning in most of countries. Institutions used different combinations of live online lectures (synchronous) requiring students to attend the class in real-time, as well as recorded lectures uploaded by the instructors to be accessed by students as per their own convenience (asynchronous). We undertook this study to assess and compare the perceptions of students regarding their learning experiences in the synchronous versus asynchronous mode of instruction using  their teaching-learning during the compulsory online mode of instruction at the peak of the COVID-19 pandemic. METHODOLOGY: This cross-sectional questionnaire-based study received responses from 122 final-year medical students studying at the College of Medicine, King Khalid University, Abha, Saudi Arabia. An online 5-point Likert scale-based questionnaire was used to collect data regarding experience and perception towards synchronous and asynchronous learning. Statistical analysis was done using Statistical Package for Social Sciences (SPSS) version 21.0. A P-value less than 0.05 was considered significant. RESULT: All the students found both synchronous and asynchronous learning to be equally satisfying, enjoyable and comfortable. No statistically significant difference was found when both the methods were analyzed for enhancement of knowledge. The students opined that asynchronous learning helped them manage their time better whereas synchronous learning encouraged more interaction during the live lectures. CONCLUSION: Overall, the students' perceptions regarding both synchronous and asynchronous online learning were positive. As both methods have their advantages/limitations, a mix of both synchronous and asynchronous methods may be adopted depending upon the content of the topic and the desired learning outcomes.

Antioxidant Activity of Vitamin C against LPS-Induced Septic Cardiomyopathy by Down-Regulation of Oxidative Stress and Inflammation.

In severe cases of sepsis, endotoxin-induced cardiomyopathy can cause major damage to the heart. This study was designed to see if Vitamin C (Vit C) could prevent lipopolysaccharide-induced heart damage. Eighteen Sprague Dawley male rats (n = 6) were divided into three groups. Rats received 0.5 mL saline by oral gavage in addition to a standard diet (Control group), rats received one dose of endotoxin on day 15 (lipopolysaccharide) (LPS) (6 mg/kg), which produced endotoxemia (Endotoxin group), and rats that received 500 mg/Kg BW of Vit C by oral gavage for 15 days before LPS administration (Endotoxin plus Vit C group). In all groups, blood and tissue samples were collected on day 15, six hours after LPS administration, for histopathological and biochemical analysis. The LPS injection lowered superoxide dismutase (SOD) levels and increased malondialdehyde in tissues compared with a control group. Furthermore, the endotoxin group showed elevated inflammatory biomarkers, tumor necrosis factor-α (TNF-α) and interleukin-6 (IL-6). Both light and electron microscopy showed that the endotoxic-treated group's cardiomyocytes, intercalated disks, mitochondria, and endothelial cells were damaged. In endotoxemic rats, Vit C pretreatment significantly reduced MDA levels and restored SOD activity, minimized biomarkers of inflammation, and mitigated cardiomyocyte damage. In conclusion: Vit C protects against endotoxin-induced cardiomyopathy by inhibiting oxidative stress cytokines.

Supraventricular tachycardia associated with severe diabetic ketoacidosis in a child with new-onset type 1 diabetes mellitus.

Diabetic ketoacidosis is one of the most serious and common complications of diabetes, with between 15 and 70% of new-onset type 1 diabetes mellitus worldwide presented with diabetic ketoacidosis. Supraventricular tachycardia, however, is an infrequent complication of diabetic ketoacidosis. We present the case of a child with a new-onset type 1 diabetes mellitus with supraventricular tachycardia as a complication of paediatric diabetic ketoacidosis. The patient received intravenous fluid resuscitation, insulin, and potassium supplementation and subsequently developed stable supraventricular tachycardia initially, confirmed on a 12-lead electrocardiogram despite a structurally normal heart and normal electrolytes. Vagal manoeuvers failed to achieve sinus rhythm. The patient went into respiratory distress and was intubated, for mechanical ventilation. She received one dose of adenosine with successful conversion to sinus rhythm and a heart rate decreased from 200 to 140 beats per minutes. We conclude that supraventricular tachycardia can occur as a complication of diabetic ketoacidosis, including in new-onset type 1 diabetes mellitus. Furthermore, a combination of acidosis, potassium derangement, falling magnesium, and phosphate levels may have precipitated the event. Here, we report a case of supraventricular tachycardia as a complication of paediatric diabetic ketoacidosis.

A neonate with crossed pulmonary arteries: a case report and literature review of 115 cases worldwide.

Malposition of the branch pulmonary arteries (MBPA) is an unusual malformation characterised by anomalous origin of both pulmonary arteries from the main pulmonary trunk. To date, only few cases have been reported. Herein, we present the first case report of a 3-day-old, full-term male neonate with the lesser form of crossed pulmonary arteries in Saudi Arabia detected by echocardiography and confirmed by cardiac CT. Crossed pulmonary arteries is not a rare anomaly, but it is a somewhat underreported anomaly, and their recognition is important because it is usually associated with other CHDs, airway obstruction, extra-cardiac anomalies, and certain genetic syndromes.

Assessment of RACGAP1 as a Prognostic and Immunological Biomarker in Multiple Human Tumors: A Multiomics Analysis.

Several recent studies have pointed out that arc GTPase activating protein 1 (RACGAP1) is a putative oncogene in many human tumors. However, to date, no pan-cancer analysis has been performed to study the different aspects of this gene expression and behavior in tumor tissues. Here, we applied several bioinformatics tools to perform a comprehensive analysis for RACGAP1. First, we assessed the expression of RACGAP1 in several types of human tumors and tried to correlate that with the stage of the tumors analyzed. We then performed a survival analysis to study the correlation between RACGAP1 upregulation in tumors and the clinical outcome. Additionally, we investigated the mutation forms, the correlation with several immune cell infiltration, the phosphorylation status of the interested protein in normal and tumor tissues, and the potential molecular mechanisms of RACGAP1 in cancerous tissue. The results demonstrated that RACGAP1, a highly expressed gene across several types of tumors, correlated with a poor prognosis in several types of human cancers. Moreover, it was found that RACGAP1 affects the tumor immune microenvironment by influencing the infiltration level of several immune cells. Collectively, the current study provides a comprehensive overview of the oncogenic roles of RACGAP1, where our results nominate it as a potential prognostic biomarker and a target for antitumor therapy development.

Dentists' knowledge and practices about infective endocarditis antibiotics prophylaxis among children in aseer region, Southwestern Saudi Arabia.

BACKGROUND: Infective endocarditis (IE) is a disease endangering human lives. Therefore, several prophylactic measures are required to improve the protection of endocarditis-prone patients from bacteremia resulting from various dental actions. These measures range from developing the dental hygiene to trials of different antimicrobial agents. OBJECTIVES: To examine the knowledge and practices of dentists in Aseer Region, Saudi Arabia, regarding antibiotic prophylaxis against IE. DESIGN: Cross-sectional study. SETTING: Aseer Region, Saudi Arabia. PATIENTS AND METHODS: The participants were interviewed at their workplaces and the data collection sheet was constructed based on the guidelines of the American Heart Association/American College of Cardiology (AHA/ACC, 2017). MAIN OUTCOME MEASURES: The examination of the data gathered was calculated using Statistical Package for Social Sciences (SPSS, version 25) such as to test the significance of variation in dentists' mean knowledge scores as per their personal characteristics. An output with P values <0.05 was statistically significant. SAMPLE SIZE: 182 Dentists. RESULTS: Dentists' mean knowledge score was 17.5 ± 3.7 (out of 24). The least correct responses regarding dental procedures that require prophylactic antibiotics were "root canal treatment" (30.8%). Regarding cardiac conditions that require prophylactic antibiotics, dentists' least correct responses were "heart failure" (50%). Dentists' mean knowledge scores differed significantly according to their age groups (P = 0.032), nationality (P = 0.002), education/qualification (P = 0.002). Mean knowledge scores differed significantly according to dentists' years of experience (P = 0.018) and sources of information (P < 0.001). Amoxicillin was the most regularly recommended antibiotic (90.7%), while 86.8% correctly stated 30--60 min. before the procedure as the time for prophylactic antibiotic administration. CONCLUSIONS: The knowledge of dentists in Aseer Region regarding the use of preventive drugs for the control and prevention of IE is suboptimal. The inclusion of the latest AHA guidelines into the dentistry curricula is highly recommended. LIMITATIONS: Outcome are simultaneously assessed.

Isolated right subclavian artery in a left aortic arch with ventricular septal defect.

Isolated origin of the subclavian artery is a congenital anomaly of the aortic arch in which one subclavian artery is attached to the ipsilateral pulmonary artery through ligamentous arteriosus. An isolated right subclavian artery with the left-sided aortic arch is an extremely rare condition. We report on an asymptomatic 2-year-old-girl, who was referred because of an incidental cardiac a murmur. She was diagnosed by echocardiography to have an isolated right subclavian artery connected to the right pulmonary artery in a left aortic arch with a ventricular septal defect. MRI confirmed the findings.

Exendin-4 protects the hearts of rats from ischaemia/reperfusion injury by boosting antioxidant levels and inhibition of JNK/p66 Shc/NADPH axis.

Exendin-4, a glucagon-like peptide-1 receptor agonist, was shown to protect against cardiac ischaemia/reperfusion (I/R) injury by suppressing oxidative stress. p66 Shc, a pro-oxidant and an apoptotic protein, is activated in the infarcted left ventricles (LVs) after induction of I/R. This study investigated if the cardiac protective effect of Exendin-4 against I/R injury in rats involves inhibition of p66 Shc and to determine the underlying mechanisms behind this. Adult male rats (n = 12/group) were divided into four groups as a sham, a sham + Exendin-4, an I/R, and an I/R + Exendin-4. Exendin-4 was administered to rats 7 days before the induction of I/R. Ischaemia was induced by ligating the left anterior descending (LAD) coronary artery for 40 minutes followed by reperfusion for 10 minutes. The infarct myocardium was used for further analysis. Exendin-4 significantly reduced infarct area (by 62%), preserved LV function and lowered serum levels of LDH and CK-MB in I/R-induced rats. Also, it significantly reduced LV levels of ROS and MDA and protein levels of cytochrome-c and cleaved caspase-3 but significantly increased levels of glutathione (GSH) and manganese superoxide dismutase (MnSOD) in LVs of I/R rats indicating antioxidant and anti-apoptotic effects. Furthermore, it inhibited JNK and p66 Shc activation and downregulated protein levels of p66 Shc and NADPH oxidase with no effect on protein levels/activity of p53 and PKCßII. Of note, Exendin-4 also increased GSH and MnSOD in LVs of control rats. In conclusion, Exendin-4 cardioprotective effect in I/R hearts is mediated mainly by antioxidant effect and inhibition of JNK/P66 Shc/NADPH oxidase.

Curcumin attenuates doxorubicin-induced cardiotoxicity via suppressing oxidative Stress, preventing inflammation and apoptosis: Ultrastructural and computational approaches.

Currently, doxorubicin (DOX) is one of the medications commonly used in chemotherapy to treat different types of tumors.Nonetheless, despite being effective in multiple tumors, yet its use is limited owing to its cytotoxic effects, the therapeutic use of DOX has been limited. This work aimed to explore whether curcumin (CMN) can prevents DOX-induced cardiotoxicity in rats. Four groups of rats were created, with the first functioning as a control, while the second group received CMN. DOX alone was administered to the third group, whereas CMN and DOX were administered to the fourth group. Lipid peroxidation assessed as Malondialdehyde (MDA), aspartate aminotransferase (AST), alanine aminotransferase (ALT), oxidative stress markers as catalase (CAT), superoxide dismutase (SOD), and inflammatory markers as tumor necrosis factor-alpha (TNF-α) in heart homogenates, each one was assessed. Heart specimens was investigated histologically and ultrastructurally. Increased, AST, and ALT serum levels, increased MDA levels, decreased SOD and CAT levels, and increased TNF-α concentrations in heart homogenates were all signs of DOX-induced myocardial injury. Histological and ultrastructural examinations revealed vacuoles and larger, swollen mitochondria in the cytoplasm. Furthermore, DOX caused significant changes in the myocardium, most notably nuclei disintegration, myofibrillar loss, and myocyte vacuolization. Using CMN with DOX reduced the harmful consequences of DOX on the myocardium by returning the increased AST and ALT levels to their original levels as compared to the control and reducing them. In cardiac tissue, CMN significantly increased the concentrations of SOD and CAT and significantly decreased the concentrations of MDA and TNF-α. Biochemical and histological studies have demonstrated that CMN has a heart-protective effect that might be related to its antioxidant and anti-inflammatory capabilities.

Smartphone use and its association with body image distortion and weight loss behaviours among adolescents in Saudi Arabia.

BACKGROUND: Concerns about the harmful effects of smartphone use on teenage development have been raised as the use of cell phones among adolescents has risen. OBJECTIVE: This study aimed to examine the associations of smartphone usage patterns with Body Image Distortion (BID) and weight loss behaviors among adolescent smartphone users in Saudi Arabia. METHODS: This population-based, cross-sectional study was conducted from July to October 2022. We assessed the mean daily length of smartphone use and classified it into quartiles using data from a self-reported survey and data on weekday and weekend use. Self-reported body weight and height were collected via an online survey. Out of the 11384 adolescents, the majority was females (65.7%) and was secondary school students (68.9%). RESULTS: The prolonged smartphone use (301 min/d) was found in 36.4% of adolescents, 181-300 min/d in 27.6% of respondents, 121-180 min/d in 22.4% of respondents, while the modest smartphone use (1-120 min/d) was found only in 13.6% of participants. The duration of smartphone use was significantly associated with BID (P= 0.000); students with middle perceived stress levels (51.4%) and no depressive symptoms (68.9%) used smartphones 121-180 min/d sparingly. However, prolonged smartphone use was significantly associated with the presence of depressive symptoms (42.6%) and high perceived stress levels (21.5%). Weight loss behaviors were significantly associated with smartphone use duration. Modest smartphone use was significantly found in students with normal weight (P= 0.00, 71.9%); however, aerobic physical activity weight loss strategy (P= 0.00, 30.9%) was correlated with prolonged smartphone use. CONCLUSION: Adequate parental advice is required to assist teenagers in developing healthy smartphone usage practices. Digital platform companies may increase their social responsibility for the information generated and delivered on their networks, boosting its beneficial effect.

Oncogenic Potential of Replication Factor C Subunit 4: Correlations with Tumor Progression and Assessment of Potential Inhibitors.

Replication Factor C Subunit 4 (RFC4), an oncogene implicated in many human cancers, has yet to be extensively studied in many cancer types to determine its expression patterns and tumor tissue function. Various bioinformatics tools were used to analyze RFC4 as a potential oncogene and therapeutic target across many cancers. We first examined RFC4 expression levels in several human tumor types to determine relationships with tumor grade, stage, metastasis, and patient survival. We also examined RFC4's genetic changes, epigenetic methylation, and effect on tumor microenvironment (TME) immune cell infiltration. We also analyzed RFC4's connections with immunological checkpoints to identify potential molecular pathways involved in carcinogenesis. Our findings show that RFC4 is upregulated in several tumor types and associated with poor prognoses in many human cancers. This study shows that RFC4 significantly affects the tumor immunological microenvironment, specifically immune cell populations. Finally, we screened for RFC4-inhibiting pharmacological compounds with anti-cancer potential. This study fully elucidates RFC4's carcinogenic activities, emphasizing its potential as a prognostic biomarker and a target for anti-cancer therapy.

Mesenchymal stem cells improve cardiac function in diabetic rats by reducing cardiac injury biomarkers and downregulating JAK/STAT/iNOS and iNOS/Apoptosis signaling pathways.

Cardiovascular complications are prevalent manifestations of type 2 diabetes mellitus (T2DM) and are usually the main cause of death. This study aims to show the underlying mechanisms of the potential therapeutic effect of mesenchymal stem cells (MSCs) on diabetic cardiac dysfunction. Twenty-four male Wistar rats were randomly assigned to one of three groups The control group received standard laboratory chow, and the groups with T2DM received a single dose of 45 mg/kg body weight of streptozotocin (STZ) after 3 weeks of pretreatment with a high-fat diet (HFD). Eight weeks after the diagnosis of T2DM, rats were divided into two groups: the T2DM model group and the T2DM + MSCs group. BM-MSCs were administered systemically at 2 × 106 cells/rat doses. A Significant amelioration in Homeostatic Model Assessment of Insulin Resistance (HOMA-IR) and dyslipidemia was noted 2 weeks post-administration of MSCs. Administration of MSCs improved dyslipidemia, the altered cardiac injury biomarkers (p ≤ 0.0001), downregulated Janus kinase 2/signal transducer and activator of transcription 3(JAK2/STAT3)/inducible Nitric oxide synthase (iNOS) and iNOS/Apoptosis signaling pathways. This was associated with improved cardiac dysfunction (impaired left ventricular performance and decreased contractility index). Our results show that MSCs ameliorate cardiac dysfunction associated with diabetic cardiomyopathy by lowering dyslipidemia and insulin resistance, inhibiting oxidative stress, and inflammation, downregulating JAK2/STAT3/iNOS and iNOS/Apoptosis signaling pathways.

Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.

BACKGROUND: Alström syndrome (AS) represents an exceptionally rare genetic disorder characterized by a constellation of features including cardiomyopathy, progressive hearing and vision impairment, as well as obesity. This study seeks to elucidate the genetic underpinnings of this syndrome within the Saudi Arabian population. METHODS: Employing an extended family cohort, we conducted an exhaustive molecular genetic assessment to delineate the presence of Alström syndrome. Additionally, we conducted an extensive review of existing literature from Saudi population to contextualize our findings within the broader understanding of the disorder in our country. RESULTS: Within our studied extended family, we identified two individuals harboring the homozygous pathogenic mutation (c.2729C>G) in the ALMS1 gene [NM_015120.4:c.2729C>G (p.Ser910*)]. Notably, carrier status was observed in the parents, whereas some siblings exhibited typical alleles while others were carriers of the mutation. Intriguingly, a review of the literature unveiled six distinct reports documenting a total of 20 Alström syndrome patients within the Saudi Arabian population, each presenting with distinct novel mutations. CONCLUSIONS: In cases featuring cardiomyopathy, obesity, and progressive hearing and vision loss, Alström syndrome merits inclusion within the differential diagnosis. To confirm the diagnosis, molecular genetic assessment of the ALMS1 gene is imperative, offering definitive clarity amidst the complex clinical presentation. This investigation reinforces the importance of genetic scrutiny for precise diagnosis and highlights the unique genetic landscape of Alström syndrome within the Saudi Arabian population.

Community Perception and Attitude towards COVID-19 Vaccination for Children in Saudi Arabia.

INTRODUCTION: Vaccines are an important part of the COVID-19 pandemic response plan. This study was undertaken to find out the percentage of supporters in the Saudi population for COVID-19 vaccination among children, and to assess the study population's perceptions towards COVID-19 vaccination among children. MATERIAL AND METHODS: This nationwide study adopted a cross-sectional survey of adult participants, conducted by trained medical students. The anonymous questionnaire was published on social media tools. Statistical analysis was conducted using two-tailed tests. RESULTS: Six hundred and twenty (620) participants were recruited for this study. Nearly 17.0% of participants had a chronic health problem/comorbidity. About 28.7% of the study participants reported having COVID-19 infection. The COVID-19 vaccine was received among 94.7% of the study respondents. The majority of the vaccination supporters (89.0%) wanted to get the third dose. There was a statistically significant association between the participant's attitudes towards getting vaccinated themselves, and their attitude towards children's vaccination. Vaccine newness, as a reason for hesitating to get vaccinated, was most reported among non-vaccine supporters. False religious beliefs were found to significantly influence the opposing attitude towards children's vaccination. CONCLUSION: Health professionals and policy makers should implement and support strategies to ensure children are vaccinated against COVID-19. They also need to educate parents and families regarding the importance of vaccination against COVID-19.

SARS-CoV-2 infections and MIS-C among children: A narrative review.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has less of an impact among the babies and teenagers, than it does on adults as a whole. Children turned out to be less symptomatic during the coronavirus disease (COVID-19) surge worldwide. Researchers discovered the ways of protection by preemptive care, like, treatment, variants, vaccination, social distancing, and cohorting among children as soon as their medical and epidemiological factors were assessed while being exposed to SARS-CoV-2 transmission. The actual pervasiveness of asymptomatic SARS-CoV-2 contagion is possibly undervalued because of less examination of the asymptomatic children. A half of young-aged people who tested SARS-CoV-2 positive don't show any symptoms as per the study of serology. Nevertheless, there is wide circulation of information reporting a post-infectious acute illness known as multisystem inflammatory syndrome in children (MIS-C) or multisystem hyperinflammatory syndrome. Therefore, we undertook this narrative review to synthesize the evidence from existing studies to assess the relationship between SARS-CoV-2 infections and MIS-C among Children. We reviewed PubMed, Science Direct, and Google Scholar to find the pertinent scientific papers published in English that were available for such analysis. The main purpose of this article is to present, on this limited topic, a better-comprehended review covering pertinent material and data to be informed on SARS-CoV-2 infections and MIS-C among Children.

The influencing factors of choosing future medical specialties among students in Saudi Arabia: A nationwide multicenter survey.

Choosing a future medical speciality is considered one of the most critical challenges for undergraduate students worldwide. The present study assessed the influences and factors related to medical students career choices in Saudi Arabia. The study was designed in a cross-sectional manner to collect data from all undergraduate medical students and interns in the Kingdom of Saudi Arabia for 5 months, starting from September 2021 and ending in January 2022. The questionnaire was completed by 1725 medical students and interns aged 18 to 30 with a mean age of 24.2 ±â€…4.6 years, and 64.6% were females. In all, 50.4% of respondents reported that they had received advice from others on their chosen speciality, and 89% of respondents indicated that they were interested in working in a specialized field after graduation. The most influencing factors for choosing medical specialities are job safety, creative ability, dealing with a variety of patients and monthly income (69.6%, 63.7%, 62.4%, 58.9%), respectively. Additionally, the study showed that gender plays a significant role (P = .001) for medical students and interns in their choice of speciality, whereas pediatrics was the top choice for female students (12%), and medicine was the most popular choice for male students (14.1%). A student's lower grade point average, the lower average monthly income of their family, lack of working relative in the healthcare field and absence of advice about future specialities are all significant predictors for stopping specialities endeavor. Our study concluded that students career choices depend on different factors, including gender based preferences and that their specialized preferences did not change considerably prior to or after graduation. Further studies are required to analyze the factors influencing student and intern speciality preferences in their early clinical and career years.

Clinical and Genetic Characterization of Patients with Primary Ciliary Dyskinesia in Southwest Saudi Arabia: A Cross Sectional Study.

BACKGROUND: Primary ciliary dyskinesia (PCD, MIM 244400) is an inherited ciliopathy disorder characterized by recurrent sinopulmonary infections, subfertility, and laterality defects. The true incidence of PCD in Saudi Arabia is not known, but it is likely underdiagnosed due to the high prevalence of consanguineous marriages. In this study, we aim to study the clinical and genetic characteristics of PCD patients in the southwestern region of Saudi Arabia to provide guidance to clinicians and researchers studying PCD. METHODS: This was a cross-sectional study conducted between 2019 and 2023 in Abha Maternity and Children's Hospital. Twenty-eight patients with clinically diagnosed PCD were recruited. The diagnosis of PCD was confirmed via whole-exome sequencing. RESULTS: A total of 28 patients from 20 families were identified and recruited for this study. The median age of patients was 7.5 years (IQR = 3, 13 years). The people of different sexes were evenly distributed, and 18 patients (64%) had neonatal respiratory distress (NRD). The median age of diagnosis was 5.5 years (IQR = 2, 11 years), while the age when the first symptoms appeared was 3 months old (IQR = 1, 6 months). The prevalence of a chronic wet cough, chronic rhinosinusitis, ear infections were 100% (n = 28), 78.6% (n = 22), and 67.9% (19), respectively. The most common gene in our study was DNAH5, which represented 17.9% (five out of twenty-eight) of the cases. Furthermore, the remaining pathogenic variants included: 14.3% with RSPH9 in four individuals (three families), 14.3% with DNAI2 in four individuals (two families), and 10.7% with LRRC56 in three individuals (one family). The most common findings on the chest CT scans were consolidation (seen in all patients), mucus plugging (seen in 95%), and bronchiectasis (seen in 77%). In the patients with bronchiectasis, the most commonly affected lobes were the right lower lobe (88%) and left lower lobe (76%). The patients with PCD and situs inversus were more likely to experience NRD than the patients with PCD and situs solitus. The median PICADAR score in the patients with PCD and situs inversus (median: 11.5; Q1: 10-Q3: 12.5) was significantly higher compared to those with PCD and situs solitus (median: 7.5; Q1: 5.8-Q3: 8) (U = 10.5; p < 0.001). CONCLUSION: This study provides preliminary data on the clinical and genetic characteristics of PCD patients in the southwestern region of Saudi Arabia. We found that DNAH5 and RSPH9 genes were the most common genes among the studied population. Furthermore, PCD should be considered for each child with early NRD and laterality defects, and further confirmatory tests are recommended. These findings also highlight the need for greater awareness of the disease in daily clinical practice to facilitate early diagnosis and avoid irreversible lung damage.

Lower Extremity Arterial Disease in Type 2 Diabetes Mellitus: Metformin Inhibits Femoral Artery Ultrastructural Alterations as well as Vascular Tissue Levels of AGEs/ET-1 Axis-Mediated Inflammation and Modulation of Vascular iNOS and eNOS Expression.

Lower extremity arterial disease (LEAD) is a major risk factor for amputation in diabetic patients. The advanced glycation end products (AGEs)/endothelin-1 (ET-1)/nitric oxide synthase (NOS) axis-mediated femoral artery injury with and without metformin has not been previously investigated. Type 2 diabetes mellitus (T2DM) was established in rats, with another group of rats treated for two weeks with 200 mg/kg metformin, before being induced with T2DM. The latter cohort were continued on metformin until they were sacrificed at week 12. Femoral artery injury was established in the diabetic group as demonstrated by substantial alterations to the femoral artery ultrastructure, which importantly were ameliorated by metformin. In addition, diabetes caused a significant (p < 0.0001) upregulation of vascular tissue levels of AGEs, ET-1, and iNOS, as well as high blood levels of glycated haemoglobin, TNF-α, and dyslipidemia. All of these parameters were also significantly inhibited by metformin. Moreover, metformin treatment augmented arterial eNOS expression which had been inhibited by diabetes progression. Furthermore, a significant correlation was observed between femoral artery endothelial tissue damage and glycemia, AGEs, ET-1, TNF-α, and dyslipidemia. Thus, in a rat model of T2DM-induced LEAD, an association between femoral artery tissue damage and the AGEs/ET-1/inflammation/NOS/dyslipidemia axis was demonstrated, with metformin treatment demonstrating beneficial vascular protective effects.

Assessment of Parental Knowledge, Awareness, and Perception About Autism Spectrum Disorders in Aseer Region, Southwestern Saudi Arabia.

Background: Autism spectrum disorder (ASD) is a neurodevelopmental condition that affects young children in social relatedness and communication besides other characteristics. A community's awareness and early intervention services in diagnosing and treating autistic children are essential for preventing the expected complications, eg language delay, social interaction, and intellectual ability. Aim: To assess the parent's knowledge and perceptions regarding autism and its associated clinical features and effects. Methodology: A cross-sectional study was conducted targeting all available parents aged 18 years or more living in Aseer region. Data were collected using a self-reported questionnaire from randomly selected parents who attended outpatient clinics at Abha Maternity and Children Hospital and Aseer Central Hospital. Parents' knowledge regarding autism was assessed covering general knowledge, clinical features, social effects, consequences, and curability. Results: A total of 477 parents participated. Parents' ages ranged from 18 to 85 years. 261 (54.7%) parents were male and 216 (45.3%) were females. Nearly 65.6% of parents were university graduates and 28.3% had a secondary level of education. About 50.9% of the parents know that genetics play a major role in causing autism, 69.6% think that most children with autism have special talents or abilities, 64.2% know that delayed language development is one of the main symptoms of autism, 61.2% also know that repetitive movements of the hands and head are a common symptom of autism. About 36.9% of parents think that diagnosing a child with autism will lead to discrimination against the child, 33.3% of parents think that autism is a rare condition in this country compared to the West. Conclusion: The study showed that parents had poor knowledge levels regarding autism and its related clinical features, especially male parents with low levels of education. On the other hand, their perception of the disease and its frequency in the study area was satisfactory.

Cyclin Dependent Kinase Inhibitor 2A Genetic and Epigenetic Alterations Interfere with Several Immune Components and Predict Poor Clinical Outcome.

Cyclin dependent kinase inhibitor 2A (CDKN2A) is a well-known tumor suppressor gene as it functions as a cell cycle regulator. While several reports correlate the malfunction of CDKN2A with the initiation and progression of several types of human tumors, there is a lack of a comprehensive study that analyzes the potential effect of CDKN2A genetic alterations on the human immune components and the consequences of that effect on tumor progression and patient survival in a pan-cancer model. The first stage of the current study was the analysis of CDKN2A differential expression in tumor tissues and the corresponding normal ones and correlating that with tumor stage, grade, metastasis, and clinical outcome. Next, a detailed profile of CDKN2A genetic alteration under tumor conditions was described and assessed for its effect on the status of different human immune components. CDKN2A was found to be upregulated in cancerous tissues versus normal ones and that predicted the progression of tumor stage, grade, and metastasis in addition to poor prognosis under different forms of tumors. Additionally, CDKN2A experienced different forms of genetic alteration under tumor conditions, a characteristic that influenced the infiltration and the status of CD8, the chemokine CCL4, and the chemokine receptor CCR6. Collectively, the current study demonstrates the potential employment of CDKN2A genetic alteration as a prognostic and immunological biomarker under several types of human cancers.