Assessment of Knowledge, Attitudes, and Practices Regarding Non-Inherited Risk Factors for Congenital Heart Disease Among Mothers in Al-Baha City, Saudi Arabia: A Cross-Sectional Study.

Background Despite advancements in healthcare, congenital heart disease (CHD) remains a global concern. It is crucial to understand non-inherited risk factors for CHD to develop effective prevention strategies. This study evaluates the awareness and impact of socio-economic factors on the knowledge and practices regarding CHD among mothers in Al-Baha City, Saudi Arabia. Methods A cross-sectional study was conducted using a structured questionnaire distributed among 300 mothers. This questionnaire collected demographic data and assessed the knowledge of non-inherited CHD risk factors, along with associated health practices. Chi-square tests were employed for categorical variables, and logistic regression was used to analyze the influence of socioeconomic factors on awareness levels. Results The study revealed a significant association between higher educational levels and increased awareness of CHD risk factors. About 75% of mothers with postgraduate education accurately identified major risk factors, compared to 30% of those with only a high school education. Additionally, income levels influenced health practices, with higher-income groups showing better adherence to recommended health behaviors. Conclusion Our findings highlight the need for targeted educational interventions tailored to diverse socio-economic backgrounds to enhance awareness of CHD risk factors and promote preventive health practices. The study emphasizes the importance of incorporating socioeconomic considerations into public health strategies to reduce the incidence of CHD.

Ceftazidime-avibactam use for the treatment of OXA-48- and/or New Delhi metallo-ß-lactamase-producing Enterobacterales in cancer patients: a retrospective observational study.

BACKGROUND: Infection is the second-leading cause of death among cancer patients, but there have been few studies on the effectiveness of novel antimicrobial agents to treat carbapenem-resistant Enterobacterales in cancer patients. OBJECTIVE: Evaluate the mortality and clinical outcomes of ceftazi-dime-avibactam for OXA-48- and/or New Delhi metallo-ß-lactamase (NDM)-producing Enterobacterales infection in cancer patients. DESIGN: Retrospective observational cohort study. SETTING: Tertiary academic medical center in Riyadh, Saudi Arabia. SUBJECTS AND METHODS: This study included patients who had cancer and received ceftazidime-avibactam for at least 72 hours for infections caused by OXA-48- and/or NDM-producing Enterobacterales. We excluded patients who died within 72 hours of treatment, patients with polymicrobial infections, and patients who did not receive appropriate antimicrobial therapy. MAIN OUTCOMES AND MEASURES: Primary outcomes were 30-day mortality and hospital mortality. Secondary outcomes included clinical cure, relapse, and reinfection. SAMPLE SIZE: 32 cancer patients. RESULTS: The 30-day mortality among all patients was 15/32 (47%), clinical cure was achieved in 19/32 (59%) of the patients, and the relapse and reinfection rates were 2/19 (10.5%) and 4/17 (23.5%), respectively. CONCLUSION: This is the largest study to evaluate clinical outcomes associated with infections caused by OXA-48- and/or NDM-producing Enterobacterales in cancer patients. The mortality rate remains high; however, ceftazidime-avibactam is an encouraging alternative for treating severe infections in cancer patients. LIMITATIONS: Small sample size and single center.

Congenital Myasthenic Syndrome Associated With SLC25A1 Gene Variant: The First Reported Case in Saudi Arabia.

We report the case of a two-year-old full-term girl of consanguineous Saudi parents, who had a history of poor sucking, hypotonia, and bilateral ptosis, as well as recurrent pediatric intensive care unit (PICU) admissions with apnea and global developmental delay and unremarkable family history. A genetic study was conducted and whole exome sequencing (WES) identified a likely pathogenic homozygous variant c.842C>T p.(Ala281Val) in the SLC25A1 gene. This finding is consistent with the genetic diagnosis of autosomal recessive combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA). Genetic testing results suggested a diagnosis of congenital myasthenic syndrome (CMS) type 23 [Online Mendelian Inheritance in Man (OMIM) #618197]. CMS is a highly heterogeneous group of neuromuscular junction (NMJ) disorders clinically and genetically and compromises the safety margin required for reliable neuromuscular transmission. Fortunately, we suspected a CMS in our patient, and the initiation of management with pyridostigmine has substantially improved the patient's condition.

Identification of a Novel Interferon-Stimulated (ISG15) Gene Variant Associated With Inflammatory Cutaneous Lesions and Zinc Deficiency in a Unique Family: A Case Series and Literature Review.

Interferon-stimulated gene 15 (ISG15) is a pivotal protein involved in antiviral defense and immune regulation. This study presents a remarkable case series of a consanguineous family with a homozygous variant in the ISG15 gene, leading to a complex interplay of intriguing dermatological manifestations and concurrent zinc deficiency. The range of cutaneous phenotypes observed in the family members, from severe ulcerative lesions to atopic dermatitis, highlights the intricate relationship between the identified genetic variant and dermatological conditions. Furthermore, zinc deficiency adds another layer of complexity to the understanding of these conditions. Comprehensive assessments of zinc levels were conducted for three siblings, while the fourth sibling's evaluation was impeded. This extraordinary case series offers a unique opportunity for scientific exploration, shedding light on complex genetic disorders and potentially paving the way for novel diagnostic and therapeutic strategies in medical science. The convergence of familial genetics, the homozygous ISG15 variant, and the captivating spectrum of cutaneous manifestations hold promise for advancing our understanding of these conditions and their underlying mechanisms.

A Challenging Diagnosis of Kawasaki Disease Shock Syndrome Complicated by Bilateral Pleural Effusion: A Case Report and Literature Review.

Kawasaki disease (KD) is an acute illness primarily affecting children under the age of five. It is characterized by fever and inflammation of small to medium-sized arteries. This case report presents the case of a nine-year-old boy with KD who developed Kawasaki disease shock syndrome (KDSS) complicated by bilateral pleural effusion, which is a rare occurrence. KDSS is defined as KD accompanied by low blood pressure or signs of inadequate blood flow, leading to increased cardiovascular complications. The patient exhibited typical KD symptoms, including conjunctivitis, mucosal changes, rash, extremity swelling, and lymphadenopathy. Additionally, he presented with shock symptoms, such as hypotension and tachycardia. Laboratory findings showed elevated inflammatory markers. Prompt diagnosis and treatment are crucial to prevent coronary artery lesions and other severe complications. The patient received intravenous immunoglobulin and showed significant improvement, with resolution of fever and respiratory distress. Follow-up echocardiography revealed normal results. While pulmonary involvement in KD is rare, the presence of bilateral pleural effusion underscores the challenges in diagnosing KDSS. Early recognition and management are essential for favorable outcomes in KD and its complications.

Family profile of victims of child abuse and neglect in the Kingdom of Saudi Arabia.

OBJECTIVES: To describe the family profile of child abuse and neglect (CAN) subjects in Saudi Arabia. METHODS: Data were collected retrospectively between July 2009 and December 2013 from patients' files, which were obtained from the Child Protection Centre (CPC) based in King Abdulaziz Medical City, Riyadh, Saudi Arabia. Four main sets of variables were examined: demographics of victim, family profile, parental information, and information on perpetrator and forms of abuse.  RESULTS: The charts of 220 CAN cases were retrospectively reviewed. Physical abuse was the most common form of abuse (42%), followed by neglect (39%), sexual abuse (14%), and emotional abuse (4%). Children with unemployed fathers were 2.8 times as likely to experience physical abuse. Children living in single/step-parent households were 4 times as likely to experience physical abuse. Regarding neglect children living in larger households (≥6) were 1.5 times as likely to be neglected by their parents as were children living in smaller households (less than 6). Regarding sexual abuse, male children were 2.9 times as likely to be abused as were female children.  CONCLUSIONS: The recent acknowledgment of CAN as a public health problem in Saudi Arabia suggests that time will be needed to employ effective and culturally sensitive prevention strategies based on family risk factors.