• Co-designing a structured referral template to enhance dementia diagnosis: a modified e-Delphi study.
    1 month ago
    Dementia care is a health and social care priority, with rising prevalence driven by ageing populations worldwide. Timely and accurate diagnosis improves quality of life, enables access to support and is becoming even more critical due to the emergence of disease-modifying therapies for Alzheimer's disease. Complex referral pathways can contribute to diagnostic delays and under-diagnosis. A structured, evidence-based referral template could enhance diagnostic efficiency and care quality.

    This study was conducted in two phases. First, a two-round e-Delphi survey was used to achieve consensus on items for inclusion in a dementia referral template. In the second phase, a modified Nominal Group Technique was employed with a multidisciplinary panel and Public and Patient Involvement (PPI) contributors to discuss, refine and prioritise items, ensuring clinical relevance and practical applicability.

    The consensus process refined and prioritised 76 potential referral items into a final set of 11 essential components. The resulting concise template balances clinical relevance with usability, potentially supporting more efficient referral and triage. Items achieving the highest consensus included cognitive screening scores, rapid deterioration, problems with daily activities and patient safety concerns.

    The findings demonstrate the value of structured consensus methods in developing a practical, evidence-based referral template, tailored to optimise dementia diagnostic pathways. This is particularly important in the current evolving therapeutic landscape, to ensure that people with suspected dementia receive timely diagnosis and access to appropriate care and treatment options.
    Mental Health
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  • Polymorphisms in intron 1 of HLA-DRA differentially associate with type 1 diabetes and celiac disease and implicate involvement of complement system genes C4A and C4B.
    1 month ago
    Polymorphisms in genes in the human leukocyte antigen (HLA) class II region comprise the most important inherited risk factors for many autoimmune diseases, including type 1 diabetes (T1D) and celiac disease (CD): both diseases are positively associated with the HLA-DR3 haplotype (DRB1*03:01-DQA1*05:01-DQB1*02:01). Studies of two different populations have recently documented that T1D susceptibility in HLA-DR3 homozygous individuals is stratified by a haplotype consisting of three single nucleotide polymorphisms ('tri-SNP') in intron 1 of the HLA-DRA gene. In this study, we use a large cohort from the longitudinal 'The Environmental Determinants of Diabetes in the Young' (TEDDY) study to further refine the tri-SNP association with T1D and with autoantibody-defined T1D endotypes. We found that the tri-SNP association is primarily in subjects whose first-appearing T1D autoantibody is to insulin. In addition, we discovered that the tri-SNP is also associated with CD, and that the particular tri-SNP haplotype ('101') that is negatively associated with T1D risk is positively associated with risk for CD. The opposite effect of the tri-SNP haplotype on two DR3-associated diseases can enhance and refine current models of disease prediction based on genetic risk. Finally, we investigated possible functional differences between the individuals carrying high and low-risk tri-SNP haplotypes and found that differences in complement system genes C4A and C4B may underlie the observed divergence in disease risk.
    Diabetes
    Diabetes type 1
    Care/Management
  • Colorectal Cancer Screening in Saudi Arabia: Current Challenges and Future Directions.
    1 month ago
    Colorectal cancer has become a major public health concern in Saudi Arabia. It is the most prevalent cancer among men and the third most prevalent among women. Although screening for people aged 45-75 is recommended by national recommendations, screening uptake is still below 10%, and less than 1% of older persons have a colonoscopy. With regional differences that vary from age-standardized rates of 3.2 per 100,000 in Jouf to 21.8 per 100,000 in Riyadh among men, approximately 29% of cases are detected at late stages. Therefore, we assessed the epidemiological, social, and health-related systemic structures preventing effective colorectal cancer screening in the region. Important barriers to colorectal cancer screening include a lack of public knowledge, cultural taboos, healthcare system constraints, and gaps in physician knowledge. Although some initiatives, such as fecal immunochemical testing, appear promising, screening rates remain exceptionally low. Furthermore, the alarming increase in early onset colorectal cancer in individuals aged <50 years underscores the need to screen high-risk individuals at younger ages. This review highlights the pressing necessity for a nationwide colorectal cancer screening initiative, which should encompass the creation of a national registry, focused public education campaigns to overcome cultural obstacles, mobile screening units for rural regions, and the incorporation of artificial intelligence (AI)-assisted diagnostics to enhance the existing 5-year survival rates of 44-52%.
    Cancer
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    Advocacy
  • Targeted Neonatal Echocardiography and Neonatal Hemodynamics in the Kingdom of Saudi Arabia: A One-Year Experience in Service Implementation.
    1 month ago
    To evaluate the impact of a newly established targeted neonatal echocardiography (TNE) and Neonatal Hemodynamics consultation service on the assessment and management of neonates.

    This is a descriptive retrospective cohort study that included all neonates who underwent TNE consultations in the Neonatal Intensive Care Unit from October 2023 and September 2024. Clinical indications, diagnostic findings, and subsequent management were analyzed.

    A total of 237 TNE consultations were performed for 105 neonates. The mean gestational age was 29.9 weeks, and the mean birth weight was 1433 grams. On average, 19.8 echocardiographic scans were performed per month. The leading indications for consultation were assessment of patent ductus arteriosus (PDA) (43%), acute pulmonary hypertension (16.4%), screening for chronic pulmonary hypertension (18.6%), neonatal hypotension (17.7%), heart function (0.8%), and central line assessment (3.4%). Among the cohort, 83 neonates (79%) received targeted interventions based on TNE findings. Of these, 38 neonates (36.2%) born at <30 weeks' gestation were treated with pharmacologic agents for PDA closure. Twenty-three neonates (22%) received inhaled nitric oxide and inotropes for acute pulmonary hypertension, while 22 neonates (21%) received inotropes or vasopressors for neonatal hypotension.

    The implementation of a dedicated TNE consultation service was associated with high utilization and had a measurable impact on clinical decision-making. While PDA assessment remained the most common indication, a substantial proportion of consultations supported management in cases of pulmonary hypertension and hypotension.
    Chronic respiratory disease
    Cardiovascular diseases
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  • Influence of Metabolic Dysfunction-Associated Steatotic Liver Disease on Pattern and Management of Acute Coronary Syndrome.
    1 month ago
    To determine the influence of metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) and hepatic fibrosis on the pattern and management of patients who had acute coronary syndrome (ACS).

    Retrospective records of patients with ACS included demographic, electrocardiographic, and laboratory data of platelets count, glycated hemoglobin, lipogram, liver and cardiac enzymes. Ultrasound was used to evaluate fatty liver. Coronary angiography data included the number, site and percentage of the coronary arteries occluded. The type and outcome of treatment of ACS were recorded. Laboratory markers were measured to evaluate fibrosis.

    The study recruited 259 patients, and the majority were males. MASLD was detected in 123 (47.5%). The ST segment-elevation myocardial infarction (STEMI) was reported in 42.9% and non-STEMI (NSTEMI) in 30.1%. MASLD patients had frequent STEMI (38.2%) and NSTEMI (31.7%) with more involvement of left main coronary artery (10.6%). Patients with MASLD and higher fibrosis showed involvement of multiple coronary arteries and needed revascularization but without significant difference from non-MASLD. Left anterior descending and right coronary arteries were significantly involved in higher fibrosis.

    STEMI and NSTEMI were frequent in MASLD. People with MASLD and hepatic fibrosis had more incidence of occlusion of multiple coronary arteries and needed cardiac intervention.
    Cardiovascular diseases
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  • Endovascular Thrombectomy for Acute Ischemic Stroke Among Stroke Patients in Jeddah, Saudi Arabia: A Retrospective Cohort Study (2024) Detailing Dual Center Experience.
    1 month ago
    Te evaluate the outcomes of Endovascular thrombectomy (EVT) -treated AIS patients in Jeddah, Saudi Arabia, and explores predictors of functional recovery. Endovascular thrombectomy (EVT) is the standard of care for acute ischemic stroke (AIS), though patient outcomes can vary based on regional and clinical factors.

    A retrospective cohort study was conducted using medical records from King Abdulaziz University Hospital (KAUH) and King Fahad Hospital Jeddah (KFHJ), including AIS patients treated with EVT between January 2020 and July 2024. Neurological status was assessed using the NIH Stroke Scale (NIHSS), and clinical outcomes were evaluated with the modified Rankin Scale (mRS) at 90 days, where scores of 0-2 indicated good outcomes. Data on demographics, treatment times, recanalization success, and peri-procedural complications were collected and analyzed.

    A total of 219 patients were included. Mean NIHSS scores on admission were similar across centers (14.6 ± 5 at KAUH vs. 15.5 ± 5.1 at KFHJ), while mRS scores at 90 days were slightly better at KAUH. The average time from last known well to hospital arrival was approximately 231 minutes across both centers. Door-to-puncture times were shorter at KFHJ (87.7 ± 61.2 minutes) compared to KAUH (114 ± 48.2 minutes). Successful recanalization (TICI 3) was achieved in 76.7% of cases, with higher rates at KAUH (87%) than KFHJ (72.1%). Functional independence (mRS 0-2) at 90 days was achieved in 33.5% of patients and was associated with younger age (p=0.05) and lower baseline NIHSS scores (p<0.001).

    EVT is technically effective for AIS in the Saudi population, with recanalization rates comparable to global benchmarks. However, functional outcomes remain suboptimal due to delayed presentation, high rates of metabolic comorbidities, and post-procedural complications. Efforts to improve early stroke recognition, reduce pre-hospital delays-such as through the implementation of mobile stroke units-and control vascular risk factors are essential to improving patient outcomes.
    Cardiovascular diseases
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  • Intra-annular self-expanding or balloon-expandable TAVI in small annuli: the NAVULTRA registry.
    1 month ago
    Comparative data between self-expanding Navitor (NAV) and balloon-expandable SAPIEN 3 Ultra (ULTRA) transcatheter heart valves (THVs) in patients with small aortic annuli are lacking.

    This study sought to evaluate outcomes of transcatheter aortic valve implantation (TAVI) using the intra-annular NAV and the ULTRA THVs in severe aortic stenosis patients with small annuli.

    Patients with an aortic annulus area ≤430 mm2 undergoing TAVI with either NAV or ULTRA from the NAVULTRA registry were included. Propensity-matched analysis was performed for adjustment. Primary endpoints included 1-year mortality, a composite endpoint (all-cause mortality, disabling stroke, or heart failure hospitalisation), and 30-day device-oriented outcomes (severe prosthesis-patient mismatch, moderate or greater paravalvular leak [PVL], mean gradient ≥20 mmHg).

    Among 1,617 patients, 524 propensity score-matched pairs were analysed. At 1 year, all-cause mortality was 8.8% with NAV versus 9.0% with ULTRA (adjusted p=0.585), and the composite endpoint occurred in 11.3% versus 11.8%, respectively (adjusted p=0.149). The device-oriented endpoint favoured NAV compared to ULTRA (6.0% vs 29.3%; adjusted p<0.01), with a lower residual transvalvular gradient (7.3 mmHg vs 12.7 mmHg; adjusted p<0.01), and reduced incidence of any prosthesis-patient mismatch (odds ratio 0.27, 95% confidence interval: 0.18-0.43; adjusted p<0.01). However, NAV was associated with higher rates of mild paravalvular leak (NAV 33.5% vs ULTRA 23.2%; adjusted p<0.05) and permanent pacemaker implantation (PPI; NAV 20.1% vs 11.9% ULTRA; adjusted p<0.01).

    In patients with small aortic annuli, TAVI with both NAV and ULTRA provided comparable 1-year clinical outcomes, but NAV showed better haemodynamic performance at the cost of higher rates of mild PVL and PPI.
    Cardiovascular diseases
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  • Myocardial involvement in inflammatory myopathies: from subclinical disease to life-threatening myocarditis.
    1 month ago
    Inflammatory myopathies (IM) are a heterogeneous group of systemic disorders characterized by chronic muscle inflammation. Cardiac involvement has historically been underrecognized, partially because of its subclinical presentation, and is associated with a poor prognosis, underscoring the urgent need for effective diagnostic strategies and therapeutic approaches. Cardiac magnetic resonance and its new mapping techniques appear as one of the most valuable instruments to detect myocardial involvement, thereby limiting the need for an endomyocardial biopsy when the underlying cause of cardiac dysfunction is unclear or when noninvasive imaging is inconclusive. Evidence-based data remains lacking regarding treatment strategies, and nowadays, immunosuppressive therapy constitutes the cornerstone of treatment.

    In this review, we provide a summary of the current literature on myocarditis in the context of IM, with a focus on clinical manifestations, underlying pathophysiological mechanisms, diagnostic methods, and therapeutic strategies.

    We are currently in a privileged moment regarding IM, as there has never been a time with so many ongoing clinical trials. With growing awareness of cardiac involvement in IM, now is the time to focus research efforts on cardiac involvement in IM to address this underrecognized manifestation that carries significant morbidity and prognostic implications in patients with IM.
    Cardiovascular diseases
    Care/Management
  • Three-dimensional intracardiac echocardiography in structural heart disease interventions.
    1 month ago
    Transcatheter heart interventions are expanding, and structural procedures are becoming more complex. This makes detailed visualisation and characterisation of cardiac anatomy and pathology increasingly important. As a result, there is a growing interest in interventional imaging for procedural guidance. Specifically, there is an increasing interest in using intracardiac echocardiography (ICE) as a complementary or alternative tool to transoesophageal echocardiography. Furthermore, new-generation three-dimensional matrix array ICE probes provide the possibility of obtaining multiplanar reconstruction imaging, playing a crucial role in structural heart interventions. To date, we still need guidelines that summarise the technical details of the most used ICE probes and that standardise procedure protocols. The purpose of this expert review is to provide an overview of ICE technology, describe the technical characteristics of the available probes, and present a review by a group of experts on their use in guiding structural heart interventions based on global clinical experience.
    Cardiovascular diseases
    Care/Management
  • Clinical Characteristics and Outcomes of Patients with Amphetamine Associated Emergency Department Visits at a Tertiary Care Hospital in Riyadh, Saudi Arabia.
    1 month ago
    To investigate the demographic and clinical profiles of patients presenting with amphetamine-related emergencies at a tertiary hospital in Riyadh, Saudi Arabia. Amphetamine use is an escalating public health issue linked to a rise in emergency department (ED) visits.

    This retrospective study encompasses 14 years and focuses on individuals diagnosed with amphetamine-related toxicity.

    Among the 659 cases studied, a predominant 96% were male, with over half (52%) aged between 19 and 30 years. Most patients (91%) were Saudi nationals. The leading cause of presentation was trauma, accounting for 24% of cases. This was followed by altered mental status (14%), seizures (10%), and acute intoxication (6%). Cardiovascular issues, such as chest pain, were noted in 6% of cases. ED stays varied in duration: 35% of patients remained in the ED for 4 to 8 h, while 28% stayed for more than 12 h. Weekend presentations made up 40% of the total cases, with a notably higher proportion of male patients presenting on weekends (99%) than on weekdays (95%). No significant differences were detected between visits during salary weeks compared to non-salary weeks.

    Amphetamine-related ED visits primarily involve young adult males, with trauma as the most common presenting complaint. The incidence of these visits did not differ significantly between salary and non-salary periods.
    Mental Health
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