• Mitral valve dysplasia associated with left ventricular non-compaction cardiomyopathy and papillary muscle hypertrophy: a case report.
    3 weeks ago
    Mitral valve dysplasia is a rare congenital etiology of primary mitral valve regurgitation. It can cause severe chronic mitral regurgitation, which may eventually lead to left atrial and ventricular dilation and dysfunction. Left ventricular non-compaction is a relatively rare cardiomyopathy that overlaps with hypertrophic and dilated cardiomyopathy. It can also lead to left or right ventricular dysfunction and failure. Papillary muscle hypertrophy may be a subtype of, or an early expression of, hypertrophic cardiomyopathy. Herein, we present a 42-year-old woman with a rare coexistence of mitral valve dysplasia, non-compaction left ventricular cardiomyopathy, and papillary muscle hypertrophy.
    Cardiovascular diseases
    Care/Management
  • Scurvy in Children With Autism Spectrum Disorder: Dental Implications and Clinical Considerations.
    3 weeks ago
    Vitamin C deficiency also known as scurvy, can present with musculoskeletal pain, gingival bleeding, oral discomfort, and impaired mobility. Children with Autism Spectrum Disorder (ASD) are at increased risk of vitamin C and other nutritional deficiencies due to sensory sensitivity and food selectivity. This report aims to describe two pediatric patients with nonverbal ASD who presented with oral and systemic symptoms. These cases highlight the importance of obtaining a detailed dietary history and complete examination when evaluating unexplained oral bleeding, gingival inflammation, and limb pain in children with ASD. Interdisciplinary collaboration among pediatric medicine, dentistry, and specialists is essential to ensure timely diagnosis and avoid unnecessary interventions. Increased clinical awareness of nutritional deficiencies and their oral manifestations can improve outcomes and reduce diagnostic delays in this vulnerable population.
    Cardiovascular diseases
    Care/Management
  • Statin adherence among patients with hypertension in Swedish primary health care: a QregPV cohort study using explainable machine learning.
    3 weeks ago
    Evidence regarding statin adherence among patients with hypertension in primary care is limited. We assessed statin adherence in Swedish primary care and examined associations between patient characteristics and adherence.

    In this retrospective register-based cohort study from a large Swedish region, data from all primary health care centres were linked to data on comorbidities, dispensed drugs, and socioeconomic factors. Patients with hypertension who initiated statin therapy in 2012-2015 were included. Adherence during two years after initiation was measured using the proportion of days covered (PDC). Explainable machine learning with XGBoost and SHAP values identified baseline characteristics associated with adherence. Associations were estimated using adjusted multilevel regression and presented as odds ratios (ORs) and median odds ratio (MOR).Among 30 497 patients (mean age 66 years; 48% women), the mean two-year PDC was 73.2%, while 60.2% achieved adequate adherence (PDC >80%). Adequate adherence differed by indication (P <0.001): 54.0% in primary prevention, 61.3% in diabetes without cardiovascular disease, and 65.5% in secondary prevention. The five most important characteristics associated with adequate adherence according to SHAP values were dispensed antithrombotic therapy (OR 1.38, 95% CI 1.26-1.50), primary health care centre (MOR 1.16, 95% CI 1.12-1.20), 10-year increase in age (OR 1.14, 95% CI 1.12-1.17), initiation with atorvastatin (OR 1.33, 95% CI 1.24-1.44), and countries of birth outside Sweden (OR range 0.73-0.78).

    Only 60% of patients achieved adequate statin adherence, which varied substantially by indication. Patient- and provider-level factors identified could guide targeted interventions to optimize preventive cardiovascular care.
    Cardiovascular diseases
    Care/Management
  • Radial outer retina reflectivity (RORR) sign in LAMP2-associated retinopathy.
    3 weeks ago
    To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X-linked lysosome-associated membrane protein-2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.

    International multicentre observational case series and experimental laboratory study of patients with LAMP2 deficiency. Baseline demographics and multimodal retinal imaging including colour and fundus autofluorescence (FAF), optical coherence tomography (OCT) with en face reconstruction and fluorescein angiography were obtained. Sections through the retina of a human donor eye were processed for immunofluorescence combining antibodies against LAMP2 with markers for Müller glia, rod and cone photoreceptors. Sections were imaged using high-resolution multichannel confocal microscopy. Assessment of en face OCT reflectivity profiles at 5-50 μm internal to the plane of external limiting membrane (ELM) was performed as well as histologic localisation of LAMP2.

    We recruited 11 cases with pathogenic variants in LAMP2 across five countries. Six cases demonstrated peripheral radial streaks of hyper- and hypopigmentation with UWF imaging. The RORR sign was best visualised 10-25 μm internal to ELM in 9 cases. We hypothesise the radial pattern to be secondary to X-chromosome inactivation. LAMP2 immunoreactivity was observed internal and external to the ELM.

    Our findings expand the phenotypic spectrum of LAMP2-associated retinopathy by demonstrating the RORR sign using en face OCT. Histologic sections revealed LAMP2 expression in the neuroretina.
    Cardiovascular diseases
    Care/Management
  • Finerenone and Cardiorenal Outcomes: A Narrative Review.
    3 weeks ago
    Finerenone is a nonsteroidal mineralocorticoid receptor antagonist that has demonstrated cardiorenal benefits in patients with chronic kidney disease (CKD) associated with type 2 diabetes. CKD affects up to 40% of patients with type 2 diabetes and is associated with substantial cardiovascular morbidity and mortality. Despite renin-angiotensin system inhibitors and sodium-glucose cotransporter-2 inhibitor therapy, many patients experience worsening kidney function and cardiovascular events. This narrative review summarizes evidence published between 2014 and 2025, including Mineralocorticoid Receptor Antagonist Tolerability Study-Diabetic Nephropathy, Finerenone in Reducing Kidney Failure and Disease Progression in Diabetic Kidney Disease, Finerenone in Reducing Cardiovascular Mortality and Morbidity in Diabetic Kidney Disease, pooled analysis of FIDELIO-DKD and FIGARO-DKD, and Finerenone Trial to Investigate Efficacy and Safety Superior to Placebo in Patients With Heart Failure, and relevant real-world studies. Finerenone provides organ protection by reducing mineralocorticoid receptor-mediated inflammation and fibrosis, offering benefits beyond blood pressure and glycemic control. Clinical trials have shown an approximate 30% drop in urine albumin-to-creatinine ratio within the first months of treatment, with a slower long-term decline in kidney function. The pooled analyses indicate a 23% reduction in serious kidney outcomes and a 14% reduction in major cardiovascular events compared with placebo, in patients receiving background angiotensin-converting enzyme inhibitor or angiotensin receptor blocker therapy. Although hyperkalemia was more frequent with finerenone than placebo, discontinuation was uncommon under trial-based monitoring protocols. Overall, finerenone is an important addition to cardiorenal risk reduction in CKD associated with type 2 diabetes, although direct randomized endpoint comparisons with spironolactone or eplerenone remain lacking. Hyperkalemia risk should be interpreted in the context of trial eligibility criteria and structured potassium monitoring.
    Cardiovascular diseases
    Care/Management
  • [Study on the Mechanism by Which Atorvastatin Enhances the Stability of Atherosclerotic Plaques in ApoE-/- Mice Through Regulation of MMP-7/Gα13].
    3 weeks ago
    To explore the pleiotropic molecular mechanisms by which atorvastatin (Ator) regulates atherosclerosis (AS) in ApoE-/- mice.

    Thirty 8-week-old male ApoE-/- mice were induced to develop atherosclerosis by a high-fat diet. They were randomly assigned to a control group (normal saline), a low-dose Ator group (5 mg/[kg·d]), and a high-dose Ator group (10 mg/[kg·d]), and received interventions for 10 weeks. The primary outcome indicators were assessed by Oil Red O and HE staining to measure the area of atherosclerotic plaques. Secondary outcome indicators included serum lipid levels detected by a blood chemical analyzer, Masson and Sirius Red staining combined with polarized light to assess plaque stability indicators (collagen fiber content, fibrous cap thickness), immunohistochemistry to detect the expression of α-smooth muscle actin (α-SMA) and CD68, fluorescence microplate reader to measure reactive oxygen species (ROS) levels, Western blot and RT-qPCR to detect protein and gene expression of inflammation, oxidative stress, apoptosis-related molecules, matrix metallopeptidase 7 (MMP-7), and guanine nucleotide-binding protein subunit α-13 (Gα13).

    Blood lipids and plaques: Ator reduced serum low-density lipoprotein cholesterol (LDL-C), total cholesterol (TC), and triglycerides (TG) levels (P < 0.05), and dose-dependently decreased the area of aortic lipid deposition and plaque area (Control group: plaque area [1.62 ± 0.15] mm², Low-dose group: [1.13 ± 0.06] mm², High-dose group: [0.83 ± 0.07] mm², P < 0.001). Plaque stability: Ator increased collagen fiber content (P < 0.001), increased fibrous cap thickness, upregulated α-SMA expression, and downregulated CD68 expression (P < 0.001). Oxidative stress: Ator remarkably diminished the levels of ROS in arterial tissue and malondialdehyde (MDA) in serum (P < 0.001). Molecular mechanism: Ator downregulated pro-inflammatory factors (tumor necrosis factor-alpha [TNF-α], interleukin-6 [IL-6]), NLRP3, pro-apoptotic proteins (caspase-3, p53), inducible nitric oxide synthase (iNOS), and MMP-7; and upregulated anti-apoptotic protein Bcl-2, antioxidant proteins [mitochondrial deacetylase 3 (sirtuin 3, SIRT3)/superoxide dismutase 2 (SOD2)], and Gα13 (P < 0.001). The expression trends of these proteins and genes were consistent, with a more significant effect in the high-dose group.

    Atorvastatin exerts its anti-atherosclerotic effects by regulating blood lipids, inhibiting inflammatory responses, reducing oxidative stress, and regulating apoptosis. It also affects the expression of MMP-7 and Gα13.
    Cardiovascular diseases
    Policy
  • Selective Postmortem Marbling in the Upper Body: A Case of Cardiac Tamponade.
    3 weeks ago
    We present a forensic case of a man in his late 50s who lost consciousness while driving, resulting in a lowspeed (approximately 10 km/h) collision with a wall. He was found unresponsive at the scene and transported to a hospital. Despite resuscitative efforts, he was pronounced dead. A judicial autopsy was conducted 5.5 days postmortem after refrigerated storage. Externally, postmortem marbling was distinctly observed in the head, neck, and upper limbs, whereas the trunk and lower extremities remained unaffected. Internally, approximately 300 mL of hemopericardium was found due to a tear in the anterior wall of the left ventricle. Histological examination revealed acute coronary artery occlusion with intraplaque hemorrhage, indicating an ischemic origin of the myocardial rupture. This case illustrates a rare and regionally selective manifestation of decomposition, with marbling limited to the upper body. We hypothesize that venous congestion caused by cardiac tamponade created a localized microenvironment favorable to bacterial proliferation, facilitating selective marbling. Although refrigeration delays decomposition, it does not prevent it. Our findings demonstrate that antemortem circulatory conditions may influence the regional distribution of early postmortem changes, which should be considered in forensic interpretation.
    Cardiovascular diseases
    Advocacy
  • Extended Reality in Otolaryngology-Head & Neck Surgery: A State-of-the-Art Review.
    3 weeks ago
    To review the current literature on the applications of extended reality (XR), including virtual reality (VR), augmented reality (AR), and mixed reality (MR), in otolaryngology-head and neck surgery (OHNS).

    MEDLINE, Embase, Web of Science, and Scopus databases.

    A comprehensive review of the literature on the applications of XR in OHNS was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-analyses statement. Eligible studies were synthesized into a narrative review.

    In OHNS, XR technologies are increasingly being used across a wide range of clinical and educational contexts. The majority of studies focused on simulation for surgical education, particularly in otology, demonstrating improvements in learner engagement, anatomical understanding, and procedural skills. Other applications included preoperative planning, intraoperative guidance, distraction analgesia, vestibular and voice rehabilitation, and provider wellness. Despite these promising developments, the literature remains heavily concentrated in certain subspecialties, focused on education and surgical simulation, and largely limited to feasibility or proof-of-concept studies, with minimal integration into routine clinical practice. Unexplored XR applications in OHNS include at home self-monitoring, mental health conditions relevant to the specialty and telemedicine.

    As XR technologies continue to evolve, they offer significant potential to enhance clinical care, improve patient education, and bridge gaps in surgical training. While early applications have focused largely on simulation, there is a growing interest in leveraging XR for perioperative and rehabilitative uses. Addressing current limitations, such as cost, access, standardization, and real-world validation, will be critical for broader adoption.
    Mental Health
    Access
    Care/Management
  • The effect of khat consumption on work performance in small businesses in the city-center market, Hargeisa, Somaliland.
    3 weeks ago
    Khat use is an increasing public health concern in Somaliland, linked to various mental, physical, social, and psychological problems.

    This study examined the effect of khat consumption on work performance among small business employees in the City-Center Market, Hargeisa, Somaliland.

    A quantitative cross-sectional design was employed, with purposive sampling of 150 male respondents. Data were collected through a structured Likert-scale questionnaire measuring khat consumption patterns and work performance. Reliability was confirmed using Cronbach's alpha, and multiple linear regression analysis was applied to assess the predictive effect of khat consumption on work performance. Demographic and occupational variables (education level, marital status, employment type, type of khat commonly chewed, and age categories) were included as controls.

    Regression analysis showed khat consumption was significantly associated with work performance (B = 0.774, β = 0.879, t = 15.062, p < 0.001). Higher levels of khat use were associated with lower work performance, while other variables including education level (p = 0.281), marital status (p = 0.548), employment type (p = 0.902), type of khat (p = 0.700), and age (p = 0.429) showed no statistically significant effects.

    The study suggests that khat consumption may negatively influence employee productivity, while demographic and occupational factors appear to have limited influence. These findings highlight the importance of workplace awareness and policy measures aimed at reducing the potential adverse impact of khat use on work performance.
    Mental Health
    Access
    Advocacy
  • Impact of Omaveloxolone on Serum Lipids in Patients with Friedreich Ataxia: A 1-Year Real-World Analysis.
    3 weeks ago
    Friedreich ataxia is a multi-system neurodegenerative disorder with frequent cardiac and metabolic involvement. Omaveloxolone, the first approved therapy for Friedreich ataxia, improves neurological outcomes through nuclear factor erythroid 2-related factor 2 activation and exerts measurable systemic effects. However, its effects on lipid metabolism have not been systematically assessed. The present study aimed to systematically evaluate the longitudinal effects of omaveloxolone on serum lipid parameters in a real-world cohort of patients with Friedreich ataxia over a 12-month observation period.

    We conducted a retrospective, single-center, real-world observational study in adults with genetically confirmed Friedreich ataxia newly treated with omaveloxolone (150 mg/day). Serum lipid parameters, including total cholesterol, low-density lipoprotein-cholesterol, high-density lipoprotein-cholesterol, very low-density-lipoprotein cholesterol, triglycerides, C-reactive protein, apolipoprotein A-I, and apolipoprotein B (ApoB), were measured at baseline and after 1, 2, 3, 6, and 12 months. Longitudinal changes were analyzed using frequentist and Bayesian linear mixed-effects models.

    A total of 17 patients were included in the analysis (13 male [76%]; mean age 36.1 years [range 20-55]; mean disease duration 17.4 years [range 6-33 years]). Total cholesterol increased shortly after treatment initiation and remained elevated throughout the follow-up period, driven almost entirely by a sustained rise in low-density lipoprotein-cholesterol (+ 35-50 mg/dL) and ApoB (+ 20-25 mg/dL) levels, whereas high-density lipoprotein-cholesterol, apolipoprotein A-I, very low-density-lipoprotein cholesterol, and triglyceride levels remained stable. Low-density lipoprotein-cholesterol and ApoB levels were strongly correlated at all timepoints (r = 0.83-0.95). The total cholesterol/high-density lipoprotein-cholesterol ratio increased by approximately one unit and persisted throughout the follow-up period.

    In this real-world Friedreich ataxia cohort, omaveloxolone treatment was associated with a sustained shift toward a more atherogenic lipid profile, driven almost entirely by increased low-density lipoprotein-cholesterol and ApoB levels. This pattern is consistent with impaired hepatic clearance of ApoB-containing particles rather than increased production, supporting routine lipid monitoring and further evaluation of long-term cardiovascular risk.
    Mental Health
    Access
    Care/Management