Vascular Involvement of Immunoglobulin G4-Related Disease: A Case Report.

Immunoglobulin-G4-related disease (IgG4-RD) is a fibro-inflammatory condition that can impact any organs/tissues, including the vascular systems, resulting in aortitis/periaortitis/periarteritis (PAO/PA). The complex nature of this disease and limited understanding have led to potential delays in identifying and managing irreversible organ damage. Herein, we report a 17-year-old female with hyper IgG4 disease, sclerosing mesenteritis, short stature, and insulin resistance who presented with symptoms of fever, epigastric pain, left flank pain, vomiting, dizziness, decreased urine output, and diarrhea. Imaging studies revealed an arterial wall thickening of the ascending aorta and aortic arch, splenic abscesses, and enlarged lymph nodes, consistent with IgG4-related aortitis. Treatment with steroids and antifungal agents was initiated. However, the patient developed septic shock and multi-organ failure requiring inotropes and mechanical ventilation. Ascending aortic aneurysm rupture, in this case, probably led to the patient's demise, but unfortunately, no autopsy was done to confirm it. This case highlights the importance of identifying and addressing vascular involvement in IgG4-RD to prevent irreversible organ damage and mortality.

Bridging the Gap: Parents' Knowledge of Childhood Developmental Milestones and the Early Identification of Children With Developmental Delay.

Background Monitoring children's acquisition of developmental milestones is integral to pediatric practice. Though pediatricians are responsible for evaluating children's development, parents have a crucial role in addressing delays as early as possible, where early detection of developmental delay can help in early intervention and ultimately potentiate a child's cognitive and social abilities toward an independent life. This study assesses parental knowledge of the warning signs denoting delayed developmental milestone acquisition, in addition to analyzing demographic variables that may influence their level of knowledge. Methods This cross-sectional study included 376 parents of children attending pediatric clinics in National Guard Health Affairs- King Abdulaziz Medical City, in Jeddah, Saudi Arabia. A two-section structured questionnaire was utilized. It included 16 option-based questions with one correct answer, while the other options were either an under or overestimate of the age at which the child should acquire a particularly significant milestone development across different domains. A score of 10 out of 16 was chosen as the minimum to show the appropriate level of knowledge. Results Most participants (n=282; 75%) were women, and 174 (46.27%) were between 29 and 39 years old. The highest reported level of education was college or higher (n=214; 56.91%). Only 41 (11%) parents had the required level of knowledge, while the remaining 335 (89%) fell short of meeting the passing level (mean 6.59, SD= 2.72). The motor domain had the highest level of accuracy, followed closely behind the cognitive domain. The language and social domains exhibited lower levels of accuracy. Conclusions Despite the majority of parents in this group possessing a college education and availing multiple health resources, there is a significant gap in their knowledge of typical trajectories of development milestones. Thus, there is a need for a nationwide initiative to promote the parent's proactive role in monitoring their children's growth.

The Prevalence of Atopic Diseases Among Pediatric Food Allergic Patients.

Introduction Food allergy is an immunological reaction that occurs in response to particular proteins in food. As food allergy can affect multiple body organs, symptoms usually include pruritus, urticaria, rash, cough, dyspnea, and wheezing. Atopic diseases are common in patients with food allergies, and multiple significant associations have been made between them. As such, the presence of food allergy in atopic patients can be used as an indicator of disease severity. The aim of this study was to estimate the prevalence of atopic diseases in food allergy patients. Methodology This was a retrospective cohort study that included pediatric patients aged 0-14 with confirmed food allergies between January 2016 and June 2022. Data was retrieved from electronic medical records and included patients' demographics, type of food allergens, symptoms of food allergy, presence of atopic diseases, and the utilization of healthcare services. Categorical variables were reported as frequencies and percentages, with Chi-squared being used for comparison. Results A total of 228 patients were included in the study. Half of them (114, 50%) were diagnosed with an atopic disease. Seventy-four (64.9%) had asthma, 57 (50%) had atopic dermatitis, and 45 (39.5%) had allergic rhinitis. The most common food allergens in atopic patients were eggs and milk products, in 53 (46.4%) and 42 (36.8%), respectively. There was a significant association between allergy to eggs (p=0.0005), bananas (p=0.0242), and strawberries (p=0.0393), and the presence of an atopic disease. No significant difference was found between atopic and non-atopic patients in terms of utilization of outpatient (p=0.09), inpatient (p=0.50), or ER visits (p=0.31) due to food allergy. Conclusion The current study demonstrates the prevalence of atopic disease in patients with food allergies. Although certain foods were associated with the prevalence of atopic diseases, both atopic and non-atopic patients have similar utilization of health care services such as outpatient, inpatient, and ER.

The Effectiveness of Ketamine Versus Opioids in Patients With Acute Pain in the Emergency Department: A Systematic Review and Meta-Analysis.

Opioids are the mainstay of treatment for acute pain in the emergency department. However, its misuse led to the investigation of alternative effective analgesic options for acute pain complaints such as ketamine. Therefore, this systematic review and meta-analysis aimed to determine the effectiveness of ketamine in comparison to opioids in the management of acute pain. This was a systematic review and meta-analysis of randomized controlled trials comparing ketamine to opioids for the relief of acute pain in the ED. Eligible studies were identified by searching the following electronic databases: Medline, Embase, and Central. Studies utilizing either the visual analog scale (VAS) or the numeric rating scale (NRS) for pain scoring in ketamine vs opioids were included. The revised Cochrane risk-of-bias tool for randomized trials was utilized. A random-effects model was performed, and all outcomes were pooled by the inverse variance weighting method. The total number of studies that met the criteria of systematic reviews was nine of which seven of them were included in the meta-analysis with 789 participants. The overall effect of NRS trials was the standardized mean difference (SMD) = -0.07, 95% confidence interval (CI) -0.31 to 0.17, P-value = 0.56, I2 =85%. While VAS trials showed an overall effect of SMD = -0.02, 95% CI -0.22 to 0.18, P = 0.84, I2 = 59%). Moreover, higher adverse events were reported in opioids; however, this was not statistically significant (SMD = 1.23, 95% CI 0.93-1.64, P = 0.15, I2 =38%). Ketamine for immediate pain relief at 15 minutes could be an effective alternative to opioids, but its overall effect in comparison to opioids for improving the pain has not shown a statistically significant difference. There was high heterogeneity in the included studies; thus, a sub-group analysis was performed.

The prevalence of major depression and generalized anxiety disorder in patients with multiple sclerosis in Saudi Arabia: a cross-sectional multicentered study.

Background: Multiple sclerosis (MS) is an autoimmune disease characterized by chronic, progressive neurodegeneration of the central nervous system (CNS), and it is the most common inflammatory neurological disease affecting young adults. Given the chronic, progressive nature of the disease, psychiatric disorders are more prevalent among these patients, as reported in the literature; however, data in Saudi Arabia are limited. This study aimed to estimate the prevalence of major depression and generalized anxiety disorder in patients with MS and their association with different patient demographics. Methods: This was a cross-sectional, multicentered study that included adult patients with MS from 30 June 2021 to 30 June 2022. Participants were interviewed in person and asked to complete a survey that included general demographics, the Patient Health Questionnaire-9 (PHQ-9), and the Generalized Anxiety Disorder-7 (GAD-7) questionnaire. Other variables related to the patients' conditions, such as MS type and Expanded Disability Status Scale (EDSS) score, were collected from the patient's electronic records. Descriptive statistics were performed, and associations were made using the chi-square, Fisher's exact, and analysis of variance tests, as appropriate. Results: A total of 192 participants were included in this study. Based on a cutoff score of >10 on the GAD-7 and PHQ-9 scales, the prevalence of generalized anxiety disorder was 26.1% (50), with the majority of participants having minimal anxiety (40%); meanwhile, the prevalence of major depression was 42.7% (n = 82), and most of them had mild depression (30%). Female participants scored significantly higher compared to men on the GAD-7 scale (p = 0.0376), but not on the PHQ-9 scale (p = 0.1134). In addition, no statistically significant association was detected between functional disability (EDSS score) and prevalence of anxiety and depression. Conclusion: This study demonstrated a high prevalence of generalized anxiety disorder and major depression among patients with MS compared with that in the general population, with women being more affected. As these comorbid disorders could negatively affect the disease course, screening is of paramount significance.

The Influence of the COVID-19 Pandemic on the Prevalence, Characteristics, Management, and Outcomes of Acute Appendicitis at the Academic Tertiary Center, Jeddah.

BACKGROUND: Acute appendicitis is the leading cause of acute abdominal pain that requires immediate intervention. Nonetheless, during COVID-19, hospital visits decreased as a result of serious COVID-19 concerns at that time, resulting in a decreased number of diagnosed cases with acute appendicitis due to COVID-19 restriction issues. OBJECTIVES: To report the percentage numbers, characteristics, applied management, and outcomes of patients with acute appendicitis during the COVID-19 pandemic and compare them to pre-COVID-19 cases. METHODS: A retrospective cohort study included all patients with acute appendicitis in the determined periods "pre-COVID-19" and "during COVID-19" at King Abdul-Aziz Medical City, Academic Tertiary Center, Jeddah, Saudi Arabia. Mean and standard deviation were used, while categorical data were reported as frequencies and percentages. Variables were analyzed by the Chi-squared test, Fisher's exact test, and Mann-Whitney test as appropriate. RESULTS: A total of 298 patients were included. The period of the pre-COVID-19 pandemic had 161 (54%) patients, while 137 (46%) were identified during COVID-19. The number of laparoscopic appendectomies performed during COVID-19 was less than the pre-COVID-19 pandemic of 96 cases (70.1%) vs 133 cases (82.6%) (P=0.0106). Uncomplicated appendicitis was the most commonly reported type of appendicitis in both periods: 113 (82.5%) during COVID-19 vs 135 (83.9%) pre-COVID-19, (P=0.7526). Furthermore, the number of patients who presented to the ER between 24 and 48 hours after the onset of symptoms was similar before and during the pandemic: 111 (68.9%) vs 89 (65%). CONCLUSION: Overall, we conclude that during the COVID-19 period, there was a reduction in the number of patients presenting with acute appendicitis and a lower chance of undergoing laparoscopic appendectomy due to COVID-19 restrictions. There was also an increase in perforated appendicitis and a decrease in gangrenous appendicitis.

Novel Mutation With Literature Review WW Domain-Containing Oxidoreductase (WWOX) Gene.

Genetic alterations in the WW domain-containing oxidoreductase (WWOX) gene cause autosomal recessive developmental and epileptic encephalopathy, characterized by the onset of refractory seizures in infants, along with severe axial hypotonia and profoundly impaired psychomotor development. It has also been expanded to include metabolism and endocrine systems. Despite its function as a tumor suppressor gene, genetic alterations in WWOX have been found in several metabolic disorders and neural diseases related to brain development. Whole-exome sequencing (WES) was performed on the patient sample. Genomic DNA was fragmented, and the exons of known genes in the human genome, as well as the corresponding exon-intron boundaries,were enriched using Roche KAPA capture technology (KAPA hyperExome Library, WES identifying the homozygous variant c.406A>G in WWOX (OMIM:605131). This variant of WWOX was also observed in the prenatal WES data, indicating that both parents were heterozygous carriers and the detected variant was homozygous. This study highlighted the importance of the human WWOX gene in brain development and the association between WWOX gene mutations and developmental delay. We recommend performing WES as a primary screening before the final diagnosis, particularly in populations with high rates of consanguinity and in clinically challenging cases.