A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy.

BACKGROUND: Ischemic stroke in young adults can be caused by a variety of etiologies including the monogenic disorders. Visceral heterotaxy is a condition caused by abnormal left-right determinations during embryonic development. We aimed to determine the cause of a young ischemic stroke patient with visceral heterotaxy. CASE PRESENTATION: We performed neurological, radiological, and genetic evaluations in a 17-year-old male patient presenting ischemic stroke and visceral heterotaxy to determine the underlying cause of this rare disease combination. Brain magnetic resonance imaging (MRI) showed evidence of embolic stroke, abdominal computed tomography (CT) showed visceral heterotaxy, and echocardiogram showed cardiac anomaly with right-to-left-shunt (RLS). Whole genome sequencing (WGS) revealed a heterozygous missense variant (NM_018055.5: c.1016 T > C, p.(Met339Val)) in the NODAL gene, which is essential to the determination of the left-right body axis. CONCLUSIONS: Our study highlights the importance of evaluating genetic etiology in young ischemic stroke and the need for stroke risk management in visceral heterotaxy patients with RLS. To the best of our knowledge, we report the first genetically-confirmed case of visceral heterotaxy with young embolic stroke reported to date.

Exploring the Feasibility and Initial Impact of an mHealth-Based Disease Management Program for Chronic Ischemic Heart Disease: Formative Study.

BACKGROUND: Ischemic heart disease (IHD) is a leading cause of morbidity and mortality worldwide, requiring innovative management strategies. Traditional disease management programs often struggle to maintain patient engagement and ensure long-term adherence to lifestyle modifications and treatment plans. Mobile health (mHealth) technologies have emerged as a promising approach to address these challenges by providing continuous, personalized support and monitoring. However, the reported use and effectiveness of mHealth in the management of chronic diseases, such as IHD, have not been fully explored. OBJECTIVE: The primary aim of this study was to evaluate the feasibility and initial impact of an mHealth-based disease management program on coronary risk factors, specifically focusing on low-density lipoprotein cholesterol (LDL-C) levels, in individuals with chronic IHD. This formative study assessed changes in LDL-C and other metabolic health indicators over a 6-month period to determine the initial impact of the program on promoting cardiovascular health and lifestyle modification. METHODS: This study was conducted using data from 266 individuals enrolled in an mHealth-based disease management program between December 2018 and October 2022. Eligibility was based on a documented history of IHD, with participants undergoing a comprehensive cardiac risk assessment before enrollment. The program included biweekly telephone sessions, health tracking via a smartphone app, and regular progress reports to physicians. The study measured change in LDL-C levels as the primary outcome, with secondary outcomes including body weight, triglyceride levels, and other metabolic health indicators. Statistical analysis used paired 2-tailed t tests and stratified analyses to assess the impact of the program. RESULTS: Participants experienced a significant reduction in LDL-C, with LDL-C levels decreasing from a mean of 98.82 (SD 40.92) mg/dL to 86.62 (SD 39.86) mg/dL (P<.001). The intervention was particularly effective in individuals with high baseline LDL-C levels. Additional improvements were seen in body weight and triglyceride levels, suggesting a broader impact on metabolic health. Program adherence and engagement metrics suggested high participant satisfaction and compliance. CONCLUSIONS: The results of this study suggest that the mHealth-based disease management program is feasible and has an initial positive impact on reducing LDL-C levels and improving metabolic health in individuals with chronic IHD. However, the study design does not allow for a definitive conclusion regarding whether mHealth-based disease management programs are more effective than traditional face-to-face care. Future studies are needed to further validate these findings and to examine the comparative effectiveness of these interventions in more detail.

Cultural engagement and prevalence of pain in socially isolated older people: a longitudinal modified treatment policy approach.

Background: It remains uncertain whether cultural engagement positively influences the reduction of pain risk, particularly depending on the social isolation status. The aim of this study was to examine the impact of cultural engagement on the reduction of pain prevalence over a 6-year follow-up period among older people, particularly those experiencing different dimensions of social isolation. Methods: This study was a prospective longitudinal study. We analysed the English Longitudinal Study of Ageing cohort, consisting of 6468 community-dwelling adults aged ≥50 years old who provided data in waves 6 (2012-2013), 7 (2014-2015), 8 (2016-2017), and 9 (2018-2019). Self-reported cultural engagement (going to museums, art galleries, exhibitions, the theatre, concerts, or the opera) measured in waves 6-8 was used as the exposure variable. Meanwhile self-reported moderate-to-severe pain in wave 9 was used as the outcome variable. Social isolation was considered in waves 6-8, and the possibility of effect modification was captured by assessing each component of the social isolation index: not married or cohabiting with a partner, fewer than monthly contact with children/other immediate family/friends, and not engaging in any organisations, religious groups, or committees. Findings: The estimated pain prevalence was 29.2% (95% confidence interval, 28.1-30.3; reference) after adjusting for time-variant, time-invariant, and loss to follow-up factors. Cultural engagement led to a reduction in pain prevalence to 24.1% for all individuals, representing a decrease of 5.1% (95% confidence interval, 0.6-9.6; P-value, 0.03). In older people who were not married or cohabiting, cultural engagement resulted in a decrease in pain prevalence to 25.8%, a reduction of 3.4% (95% confidence interval, 0.4-6.4; P-value, 0.01). For those with less frequent contact with close family members, the pain prevalence decreased to 25.3%, a reduction of 3.9% (95% confidence interval, 0.2-7.6; P-value, 0.03). Meanwhile, other dimensions of social isolation did not show a significant reduction in pain prevalence. Interpretation: Cultural engagement may help to reduce the risk of pain in socially isolated older adults. Those who were single or living alone and had less frequent contact with immediate family were particularly vulnerable. While cultural engagement might help certain socially isolated older people feel better, its effectiveness varies, highlighting the need for targeted interventions. Funding: The Japan Society for the Promotion of Science (JSPS) KAKENHI Grant Number (22K17648, Ikeda).

Utility of Combining Transcranial Sonography and MIBG Myocardial Scintigraphy to Evaluate Substantia Nigra in Patients with Parkinson's Disease.

The utility of transcranial sonography (TCS) remains unclarified for the auxiliary diagnosis of Parkinson's disease (PD). We investigated iodine-123 metaiodobenzylguanidine (MIBG) and TCS during the examination and diagnosis of high-signal-intensity substantia nigra lesion (HSI-SNL) incidence in PD patients previously diagnosed with dopamine transporter scintigraphy (DAT). The subjects were 67 patients with definitively diagnosed PD after DAT evaluation. Patients with midbrain substantia nigra visible during TCS who previously underwent MIBG were analyzed. The SN+ group comprised patients with extensive pathological HSI-SNL of Okawa class III/IV observed during TCS. The MIBG+ group comprised patients with a heart-to-mediastinum ratio of ≤2.2 during MIBG. TCS was performed to divide patients into the SN+ and SN- groups, and patient characteristics and MIBG findings were compared between the groups. PD was definitively diagnosed in 67 patients, among whom midbrain was visualized during TCS in 43 (64.1%) patients and pathological HSI-SNL was observed in 24 (35.8%). The MIBG findings were normal in six patients (27.3%) with HSI-SNL, and abnormal in seven (63.6%) without HSI-SNL. No significant differences were noted by Okawa classification in clinical characteristics based on the presence or absence of HSI-SNL. Multiple patients with normal findings during MIBG may have HSI-SNL. Thus, confirmatory imaging of HSI-SNL with TCS may be useful for diagnosis.