Saudi Journal of Medicine & Medical Sciences最新文献

MLASA syndrome is a rare mitochondrial disorder that presents in three distinct genetic forms: MLASA1, MLASA2, and MLASA3; MLASA1 is the most common form. The clinical features include mitochondrial myopathy, lactic acidosis, and sideroblastic anemia. Although presence of other features is not uncommon, its association with long QT (LQT) syndrome has not been described before. In addition, while MLASA syndrome has been reported from several countries worldwide, we present the first patient with MLASA1 syndrome from the Kingdom of Saudi Arabia in this case report. The 10-year-old girl with history of poor health since infancy and recurrent hospital admissions for infections and blood transfusions was referred to our hospital for allogeneic bone marrow transplantation. Early in her childhood, she was diagnosed with symptomatic LQT syndrome and, at a later age, with sideroblastic anemia. Whole-exome sequencing (WES) revealed homozygous mutations in the PUS1 gene and heterozygous mutations in the KCNQ1 gene. The WES test of the parents was negative, and there was no family history suggestive of a similar diagnosis. Therefore, our patient has most probably developed the syndrome as a result of a sporadic de novo mutation; however, the possibility of sex cell germline mosaicism cannot be excluded. Heterozygous KCNQ1 gene mutation is associated with the development of type 1 LQT syndrome. Detection of the MLASA syndrome and proper intervention at an early age are crucial for successful management. Associated LQT syndrome should always be anticipated. Despite the presence of a fully tissue-matched sibling, the parents of our patient declined the option of allogeneic bone marrow transplantation due to potential severe cardiac and liver complications.

Background: De novo malignancies are a significant cause of mortality in liver transplant recipients. This systematic review and meta-analysis synthesized evidence regarding the incidence of de novo lymphoid and hematological malignancies.

Methods: Observational studies that compared the prevalence of hematologic malignancies in liver transplant recipients with the general population were included following searches using relevant keywords in ScienceDirect, PubMed, and Google Scholar. The methodological quality of the included studies was evaluated using the Newcastle-Ottawa Scale, with the overall quality converted into the Agency for Healthcare Research and Quality standards (i.e., poor, fair, and good). The generic inverse variance method was used to pool the standardized incidence ratio (SIR) as risk ratios and their 95% confidence intervals (CI).

Results: A total of 32 studies were included. Following liver transplantation, post-transplant lymphoproliferative disorder was the most common hematologic malignancy (SIR: 23.06, 95% CI: 4.08-130.04; P < 0.0004), while multiple myeloma was the least common (SIR: 3.10, 95% CI: 2.22-4.34; P < 0.0001). The incidence of non-Hodgkin lymphoma (SIR: 11.05, 95% CI: 8.54-14.28; P < 0.0001) was higher than that of Hodgkin lymphoma (SIR: 7.59, 95% CI: 5.63-11.23; P < 0.0001). The overall risk of hematologic malignancies in liver transplant recipients was significantly higher than in the general population (SIR: 5.83; 95% CI: 2.35-8.05; P < 0.0001).

Conclusion: This meta-analysis found that after liver transplantation, post-transplant lymphoproliferative disorder (PTLD) is the most prevalent hematological malignancy. Although PTLD and other hematologic malignancies are less prevalent than solid organ nonlymphoid tumors, they significantly affect liver transplant recipient outcomes. Further research is necessary to identify strategies for managing these complications.

Registration: PROSPERO (Reg. no.: CRD420251131279).

Background: Breast cancer is a leading cause of cancer-related deaths globally, with a rising incidence in Saudi Arabia. However, limited studies from Saudi Arabia have reported the molecular subtypes and prognostic biomarkers of breast cancer.

Objectives: This study aimed at comparing the clinicopathological and immunohistochemical characteristics of breast cancer among two age groups from Saudi Arabia.

Methods: A retrospective study was conducted on Saudi female patients diagnosed with breast cancer between 2017 and 2022 at a tertiary care hospital in Riyadh. Patients were stratified into two age groups: aged ≤40 years and >40 years. Tumor size, grade, stage, and molecular subtypes were compared among these age groups.

Results: The study comprised 300 females with breast cancer (mean age: 53.2 ± 12.6 years). Majority of patients (54.3%) were postmenopausal. The most common tumor type overall was invasive breast carcinoma of no special type (84%). In patients aged ≤40 years, most patients had T4 tumor size (39%) and were at an advanced stage (69.2%). Compared with those aged >40 years, patients aged ≤40 years had significantly higher Ki-67 index (P < 0.001), lymph node spread (P = 0.009) and poor short-term survival (P < 0.024). Luminal A tumors were more common in the older age group, while significantly higher proportion of young patients had triple negative breast cancer (TNBC) (P = 0.035). Cox regression analysis demonstrated advanced stage (hazard ratio [HR]: 12.4; P = 0.002) and TNBC (HR: 11.9; P = 0.002) as factors that raised the risk of mortality compared to early stage and luminal A type, respectively.

Conclusion: Breast cancer patients aged ≤40 years exhibited more aggressive clinicopathological features, including higher grade, advanced stage, triple negative receptor status, and poorer short-term survival compared with patients aged >40 years.

Background: Household cleaning products, when misused, are a common cause of acute poisoning and can lead to severe health issues.

Objective: To assess the levels of awareness, knowledge, and attitude in the population of Saudi Arabia regarding the safe use and potential dangers of household cleaning products.

Methods: In this cross-sectional study, adults (aged 18-60 years) from Saudi Arabia were invited through various social media networks between September and October 2024, to complete an online survey. The questionnaire elicited information regarding demographics, real-life experiences, knowledge, attitudes, and safe handling practices.

Results: A total of 791 participants completed the survey, of which most were females (64.5%), aged 18-25 years (73.2%), Saudi nationals (89.4%), single (79.3%), and had a Bachelor's degree as their highest education (65.1%). Almost all participants (97.3%) recognized that household cleaners may contain harmful chemicals; however, only 19.0% and 20.6% of the participants recognized sterilizers and disinfectants, respectively, as potentially harmful. In addition, 87% mistakenly believed it was safe to use cleaning products in unventilated spaces, and 77.7% incorrectly believed that inducing vomiting was necessary if these products are ingested. The level of awareness did not vary based on any studied variables. In terms of knowledge, non-Saudis and married participants had significantly higher knowledge (P = 0.002 and 0.029, respectively), while those from the Northern region had significantly positive attitude (P = 0.038).

Conclusion: This study found that in Saudi Arabia, there is a high level of general awareness regarding toxicity of household cleaning products, yet significant knowledge gaps and misconceptions exist regarding its safe use and emergency responses in case of poisoning. These findings indicate the need for targeted educational interventions and public health campaigns to improve actionable knowledge.

Background: Sleep disorders are a growing global concern, with obstructive sleep apnea (OSA) being one of the most prevalent forms of sleep-related breathing disorders. OSA causes significant burden, yet the majority of OSA cases remain undiagnosed.

Objectives: To evaluate the knowledge and attitudes of primary care physicians (PCPs) in the Eastern Province of Saudi Arabia toward OSA using the validated Obstructive Sleep Apnea Knowledge and Attitude (OSAKA) questionnaire.

Methods: This study used a cross-sectional, survey-based quantitative design to assess the knowledge and attitudes of PCPs in the Eastern Province of Saudi Arabia towards OSA. Data were collected using a structured questionnaire and included variables across four domains: knowledge of and attitude toward OSA, demographic characteristics, and professional background information.

Results: A total of 279 PCPs responded, with the majority being female (58%) and Saudi nationals (97%). The mean knowledge score was 11.1 ± 2.9, indicating the overall knowledge score of about 65%. General practitioners had significantly lower knowledge than subspecialized consultants and those who attended OSA lectures during the family medicine residency program (for both variables, P < 0.001). The mean attitude score was 3.6 ↱±↱ 0.7, indicating an overall attitude score of about 72%. Years of practice was significantly associated with attitude scores (P = 0.040). A modest yet significant correlation (r = 0.188, P < 0.001) was found between knowledge and attitude.

Conclusion: Primary care physicians in the Eastern Province of Saudi Arabia have moderate level of knowledge and attitude toward obstructive sleep apnea. Knowledge level was significantly associated with qualification and attending OSA lectures during the residency program, while attitude was significantly associated with years of practice.

Atherosclerosis, a leading cause of cardiovascular disease, is a complex, multifactorial disorder involving lipid accumulation, chronic inflammation, immune dysregulation, and metabolic disturbances. Recent advances highlight critical roles for the Stimulator of Interferon Genes (STING) pathway, macrophage immunometabolism (the metabolic reprogramming of immune cells), oxidative DNA damage, neutrophil heterogeneity, sex disparities, and interactions with the gut microbiome and non-coding RNAs (molecules that regulate gene expression without coding for proteins). This integrative review synthesizes current knowledge from molecular, immunological, and epidemiological perspectives to illuminate key mechanisms in atherogenesis. We critically examine emerging mechanistic insights, including STING-mediated inflammation and macrophage metabolic reprogramming, and their roles in plaque initiation and progression. The review further evaluates novel therapeutic approaches, ranging from established lipid-lowering agents (e.g., statins, PCSK9 inhibitors, inclisiran, and bempedoic acid) to anti-inflammatory strategies (e.g., IL-1β and IL-6 inhibitors) and potential STING-targeted interventions. By integrating recent discoveries across basic and clinical science, this review emphasizes the need for personalized, multi-targeted therapies addressing inflammation, metabolism, and immune signaling. We propose a research roadmap prioritizing translational studies that link molecular mechanisms to clinical outcomes, ultimately aiming to improve prevention and management of atherosclerotic cardiovascular disease.

Background: Medical residents often have irregular sleep patterns, which can hamper performance and quality of life. The prevalence of insomnia among medical residents in Saudi Arabia is not fully studied.

Objective: To determine the prevalence of insomnia and its correlation with symptoms of depression and anxiety among medical residents in Saudi Arabia.

Materials and methods: This cross-sectional, online survey-based study included medical residents registered with the Saudi Commission for Health Specialties, and was conducted from January to March 2021. The Insomnia Severity Index (ISI), the Generalized Anxiety Disorder Scale (GAD-7), and the Patient Health Questionnaire (PHQ-9) were used for data collection.

Results: A total of 533 medical residents completed the questionnaire (mean age: 28.5 years; male: 52%). The prevalence of clinically significant insomnia among residents was 33% (ISI score ≥15); 74% had sleep disturbances (score ≥8). Further, 58% and 57% had anxiety and depression (GAD-7 score ≥10 and PHQ-9 score ≥10, respectively). Independent factors of insomnia were dissatisfaction with income (OR = 2.44, 95% CI: 1.39-4.27), obesity (OR = 4.44, 95% CI: 1.3-15.7), coffee consumption (>4 cups/day: OR = 13.74; 95% CI: 4.4-42.8), sleep-inducing medication use (OR = 2.40, 95% CI: 1.47-3.93), history of psychiatric illnesses (OR = 2.75, 95% CI: 1.54-4.94), depression (OR = 5.86, 95% CI: 3.1-11.3), and anxiety (OR = 3.34, 95% CI: 1.7-6.4). Clinically significant insomnia symptoms had a significant positive correlation with both depression (r = 0.462) and anxiety (r = 0.434) (for both, P = 0.0001).

Conclusion: Insomnia symptoms are common among medical residents in Saudi Arabia, significantly correlating with symptoms suggestive of depression and anxiety. This highlights the importance of support and early intervention, as well as the need for clear guidelines to improve sleep quality.

Background: Type 2 diabetes mellitus (T2DM) is often accompanied by vitamin D (VitD) deficiency, chronic inflammation, and altered bone metabolism, yet, the interplay between these comorbidities and T2DM has not been adequately determined.

Objective: This study aimed to determine the associations between serum VitD levels, bone turnover markers, and inflammatory cytokines in Emirati patients with T2DM, and their interaction in relation to glycemic control. In addition, to compare the above parameters between the well-controlled and poorly controlled glycemic groups.

Materials and methods: In this cross-sectional study, 128 Emirati adults aged 25-65 years with T2DM were recruited. Serum levels of VitD, osteocalcin, bone resorption marker β-cross-linked telopeptide (β-CTX), inflammatory markers (IL-6, TNF-α, CRP), and glycosylated hemoglobin (HbA1c) were measured. Non-parametric tests (Spearman correlation, Mann-Whitney U) and multivariate logistic regression were used for analysis.

Results: Patients with poorly controlled glycemia exhibited significantly elevated IL-6, TNF-α, and CRP levels compared to that in the well-controlled group (P < 0.001). Osteocalcin levels were markedly lower in the poorly controlled group, while β-CTX showed insignificant differences. Serum VitD was inversely correlated with IL-6 and TNF-α. In logistic regression analyses, elevated IL-6 was independently associated with low bone mineral density (P = 0.007).

Conclusion: An interplay exists between VitD, inflammatory markers, and bone health in Emirati patients with T2DM, where VitD was linked with bone density but not with bone markers. Poorly controlled glycemia was associated with low osteocalcin levels and elevated inflammatory markers.

Mental health disorders constitute a significant global health burden, with stigma creating additional barriers to care in the Middle East. Mobile health technologies present potential solutions, yet their implementation in Arab countries remains largely unexplored. This narrative review examines the current landscape of Arabic mental health mobile applications as an emerging solution to these barriers. Through a comprehensive analysis of literature, we evaluate the therapeutic and engagement features of existing Arabic mental health apps, comparing them with well-documented Western platforms. While these apps show potential for improving healthcare accessibility and reducing stigma, they lack essential features for effective mental health support. Our findings revealed minimal implementation of engagement features, particularly in visualization, gamification, and social networking capabilities. Similarly, therapeutic features showed limited customization options and insufficient integration of evidence-based interventions. This review concludes that future development of Arabic mental health apps requires collaborative efforts between healthcare professionals, policymakers, and developers to create culturally sensitive, evidence-based digital solutions that effectively serve Arab populations.

Background: Acute ischemic stroke (AIS) is a major cause of mortality and disability worldwide, requiring rapid intervention to prevent brain damage. Timely thrombolytic therapy with tissue plasminogen activator (tPA) is essential but often underutilized due to barriers in treatment delivery.

Objectives: This study aimed to identify barriers impacting the timely administration of thrombolytic therapy in AIS patients at a major tertiary care hospital in Riyadh, Saudi Arabia.

Methods: This retrospective cohort study included adult patients with AIS who were admitted to the Emergency Department (ED) of King Abdulaziz Medical City, Riyadh, between November 2015 and March 2023. Patient demographics, clinical characteristics, and records on ED arrival time were reviewed to identify barriers to thrombolysis.

Results: A total of 576 patients were included in the study (mean age: 64 ± 13 years; male: 65%). The mean National Institutes of Health Stroke Scale score at presentation to the ED was 7.3, indicating a moderate level of severity among stroke patients. The study found that delayed ED arrival (77%) and current anticoagulant use (34%) were the main barriers to thrombolysis. The most common symptoms were weakness (77%), slurred speech (62%), and facial droop (28%). Only 10% of patients received thrombolytic therapy, of which 70% received an appropriately calculated dose.

Conclusion: Delayed emergency department arrival and recent use of anticoagulants significantly impact timely thrombolysis for acute ischemic stroke in Saudi Arabia. Prospective multi-center studies are recommended to further explore these barriers across varied healthcare settings.