• Multifocal Sporadic Venous Malformations in a Child Caused by a Novel Somatic Double Mutation of the TEK Gene: A Case Report and Literature Review.
    2 days ago
    Multifocal sporadic venous malformations (MSVM) are a rare and severe subtype of venous malformations (VMs). Although somatic mutations in the TEK gene are frequently implicated in VMs, the clinical and molecular significance of harboring two distinct somatic mutations within a single lesion remains poorly understood.

    DNA was extracted from both the lesion and peripheral blood, followed by whole-exome sequencing (WES) and structural modeling of the TIE2 protein.

    The proband, a 6-year-old Chinese boy, presented at birth with soft-tissue swelling of the hands and occipital region, which progressively involved the tongue, neck, trunk, extremities, and external genitalia. Imaging demonstrated extensive venous ectasia infiltrating subcutaneous and muscular layers. Despite 20 sessions of sclerotherapy, the lesions continued to progress and showed a strong tendency for recurrence. WES of the lesion revealed two pathogenic somatic mutations in the TEK gene: c.2740C>T (p.L914F) and c.2545C>T (p.R849W), which weren't detected in peripheral blood. Structural modeling suggested no major global conformational changes but showed possible local structural differences within the kinase domain. The double-mutant variant exhibited predicted enhanced hydrogen bonding at the mutation sites, potentially contributing to local structural rearrangements and altered conformational stability.

    This report describes a previously unreported case of dual somatic TEK mutations in MSVM. The findings expand the mutational spectrum of TEK-related VMs and underscore the importance of lesion-based genetic testing in complex cases.
    Cardiovascular diseases
    Care/Management
  • Humanistic and economic burden among caregivers of adults and children with transfusion dependent β-thalassemia: a mixed-methods study.
    2 days ago
    To describe the humanistic and economic burden among informal caregivers of individuals with transfusion-dependent β-thalassemia (TDT) across the US and Europe.

    A mixed-methods study was conducted with qualitative interviews in the US and UK and an online survey in the US, UK, France, Italy, and the Netherlands. The survey included CarerQoL-7D, ZBI-12, and WPAI: CG and captured time spent providing informal care and out-of-pocket (OOP) expenses. Interviews were analyzed using the Framework Method, and survey data with descriptive analyses. Monetary values were standardized to US dollars (2025 USD).

    Interviews with 10 caregivers revealed five key themes: (1) Need for a strong support network; (2) Burden of disease management and constant care; (3) Barriers and facilitators to optimal care; (4) Impact on caregivers' daily life, work, and aspirations; and (5) Emotional distress and impacts on well-being. Seventy caregivers completed the survey. The CarerQoL-7D indicated adverse impacts on quality of life (QoL), with > 60% reporting mental health, daily activity, and physical health problems. On average, US and European caregivers spent 34.7 and 40.5 h per week performing caregiving activities, respectively. WPAI: CG results indicated overall work impairment of 33 and 43% among US and European caregivers, respectively. Average annual OOP expenses were $6000 in the US and $3348 in Europe.

    Caregivers of people with TDT experience negative impacts on QoL and work productivity. There is a need for healthcare policies to address caregiver's distinct challenges. Improving access to emerging therapies may ease caregiver and patient burden.
    Mental Health
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    Care/Management
    Advocacy
  • [Trends in suicide mortality in Hungary between 1985 and 2024 - a significant, almost continuous decline with two periods of stagnation].
    2 days ago
    Between 1985 and 2024, Hungary's annual suicide rate gradually decreased from approximately 46 per 100000 people to approximately 17 per 100 000 people (i.e., by approximately 63 percent), while the number of patients receiving medication for depression increased twelvefold. Studies confirm that more widespread and effective treatment of depression has played a key role in this significant decline in suicides. There have been two periods of stagnation in the decline in suicide rates over the last 40 years: the first was between 2007 and 2011, while the second has been ongoing since 2019. These two periods were characterized by suboptimal functioning of psychiatric care and reduced access to care. Keywords: Hungary; suicide rate; suicide; antidepressants.
    Mental Health
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    Care/Management
  • [Hungarian version and adaptation of the BAT burnout questionnaire (BAT-H) and its correlation with depression in a sample of healthcare workers].
    2 days ago
    The importance of mental and physical health is crucial, as it not only affects the quality of individual life, but also influences their behavior and performance at work. The role of burnout and depression is of particular importance in research. Burnout is most often associated with helping occupations, such as healthcare.

    We used a questionnaire method. Burnout was measured using the BAT-C and BAT-S questionnaires, and depression was measured using the Beck Depression Scale and the Male Depression Risk Assessment Scale, so both types of depression could be examined.

    According to our N=254 sample, the reliability and validity indicators of the BAT questionnaire in a healthcare sample proved to be adequate. Burnout and depression are positively correlated with each other. Women are more likely to experience emotional suppression, exhaustion, and symptomatic appearance of burnout. Decreased emotions and psychological symptoms predict depression. Masculine depression is also characterized by somatic symptoms.

    Burnout is closely related to depressive symptoms and various dimensions of burnout. Burnout not only causes mental and physical exhaustion, loss of motivation and concentration difficulties, but can also be accompanied by sleep disorders, anxiety, somatic complaints (e.g. headache, stomach and muscle pain), and these are already a pre cursor to depression. Regular screening with burnout and depression questionnaires is important for prevention and intervention, especially in those who have problems expressing emotions, suppressing emotions, and increased psycho logical or somatic symptoms.
    Mental Health
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    Advocacy
  • Understanding the Effectiveness of Mindfulness-based Dance Movement Therapy on Loneliness and Aggression of Underprivileged Children of an NGO.
    2 days ago
    Underprivileged children from low socio-economic backgrounds lack access to the resources that promote cognitive, emotional and social development. Cognitive stimulation and psychological support enhance the neurobehavioural responses in underprivileged children. Interventions like Mindfulness-based Dance Movement Therapy (MBDMT) are inter-modal psychotherapy, enhancing mind and body integration, improving emotional regulation and alleviating mental health problems like loneliness and aggression.

    The study aims to evaluate the effect of MBDMT on loneliness and aggression among underprivileged children of an NGO in Delhi-NCR, India.

    A quasi-experimental pre-post design was adopted, with 100 participants (aged 10-16 years) divided into treatment and control groups. The intervention consisted of 15 sessions (60 min each, for 15 weeks). UCLA Loneliness Scale and Buss-Perry Aggression Questionnaire were administered pre- and post-intervention and at follow-up (3 months). Data was analysed through a paired samples t-test using SPSS.

    The t value of the treatment group was 17.890 at p < .01, indicating a significant reduction in loneliness post-MBDMT. The aggression score of the treatment group has a t value of 20.290, indicating a significant decrease in aggression post-intervention. The post-test scores of both treatment and control groups were analysed for loneliness and aggression; the t values were -3.322 and -6.723, indicating a significant decrease in loneliness and aggression in the treatment group. The comparison of post-test and follow-up of loneliness had a t value of -2.760. And the follow-up scores of aggression showed a significant t value of 8.053.

    MBDMT is an effective community-based neurobehavioural intervention for reducing loneliness and aggression among underprivileged children. The results highlight the therapeutic value of mindfulness and movement-based expressive interventions in promoting emotional regulation and social connectedness in community settings. Although Indians have been known for practising classical dance forms, yoga and meditation for ages, schools should inculcate mindfulness and movement with the usual curriculum.
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    Policy
  • Metabolic Dysfunction in Psychiatric Disorders: A Narrative Review of Shared Pathways Between Mental Illness and Cardiometabolic Disease.
    2 days ago
    Psychiatric disorders and cardiometabolic disease (CMD) frequently coexist and contribute to substantial morbidity, premature mortality, and reduced quality of life. Although this association is increasingly recognized, the shared biological and clinical pathways linking mental illness with metabolic dysfunction remain incompletely defined. This article is a narrative review that examines recent evidence on mechanisms connecting depression, anxiety, schizophrenia, severe mental illness (SMI), obesity, insulin resistance, diabetes, dyslipidemia, hypertension, and cardiovascular disease. A narrative review approach was used, with literature identified from major biomedical databases and prioritized according to relevance to shared psychiatric-metabolic mechanisms, clinical significance, recency, and methodological strength. The review focuses on chronic low-grade inflammation, hypothalamic-pituitary-adrenal (HPA) axis dysregulation, insulin resistance, oxidative stress, mitochondrial dysfunction, altered brain energy metabolism, gut microbiome disruption, sleep and circadian disturbance, psychotropic medication effects, and behavioral and social determinants. Current evidence suggests that psychiatric and cardiometabolic disorders are associated through bidirectional and overlapping pathways rather than a single causal mechanism. Metabolic dysfunction may be associated with worsening psychiatric symptoms through inflammatory, neuroendocrine, and neurotrophic effects, while psychiatric illness may increase cardiometabolic risk (CMR) through stress biology, lifestyle factors, medication exposure, and fragmented healthcare access. Antipsychotic-associated weight gain and glucose-lipid abnormalities remain important, but metabolic changes may also precede long-term treatment exposure, particularly in psychotic disorders. These findings support routine metabolic screening, early risk stratification, individualized psychotropic prescribing, lifestyle intervention, and integrated care involving psychiatry, primary care, endocrinology, cardiology, nutrition, and behavioral health services. Future longitudinal studies and randomized trials are needed to clarify causality and evaluate interventions that improve both psychiatric and cardiometabolic outcomes. Metabolic health should be considered a core component of psychiatric assessment and management.
    Mental Health
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    Care/Management
  • Utility of a Computerized Cognitive Function Assessment Tool (CogEvo) in Patients With Acute Stroke: Associations With the Mini-Mental State Examination, Trail Making Test, and Length of Hospital Stay.
    2 days ago
    Cognitive impairment is a common and clinically significant consequence of acute stroke, frequently associated with prolonged hospitalization and poor functional outcomes. Conventional paper-based tools such as the Mini-Mental State Examination (MMSE) and Trail Making Test (TMT) have recognized limitations in the acute setting, including ceiling effects and high rates of non-completion. CogEvo, a tablet-based computerized cognitive assessment tool evaluating five domains (orientation, attention, memory, planning, and spatial cognition), offers a potentially feasible alternative; however, its applicability in acute stroke has not been established.

    In this prospective single-center pilot study, 17 consecutive acute stroke patients underwent concurrent CogEvo, MMSE, and TMT-A/B assessments during occupational therapy evaluation (mean 13.9 ± 7.5 days post-admission). Spearman rank-order correlations were computed between CogEvo composite and domain scores and MMSE, length of hospital stay, TMT-A/B, National Institutes of Health Stroke Scale (NIHSS), and age. TMT analyses used separate complete case analyses (TMT-A: N = 12; TMT-B: N = 10).

    All 17 patients completed CogEvo; only 10 (58.8%) completed TMT-B. CogEvo composite scores were significantly correlated with MMSE (r = 0.693, p = 0.002), length of hospital stay (r = -0.518, p = 0.033), TMT-A (r = -0.580, p = 0.048, N = 12), and TMT-B (r = -0.648, p = 0.043). Domain-level analyses (N = 14) revealed that attention (r = 0.633, p = 0.015), planning (r = 0.668, p = 0.009), and spatial cognition (r = 0.664, p = 0.010) were significantly correlated with MMSE; planning was also significantly correlated with length of hospital stay (r = -0.641, p = 0.014).

    CogEvo demonstrated universal feasibility, convergent validity with MMSE and TMT, and clinically meaningful associations with length of hospital stay in acute stroke patients. Domain-level analyses suggest that planning ability may be particularly relevant to the discharge trajectory. CogEvo may serve as a feasible ICT-based complement to conventional cognitive assessment in the acute stroke setting. Prospective multicenter studies are warranted.
    Mental Health
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  • First Manic Episode With Psychotic Features in a Young Woman as the Initial Presentation of Graves' Disease: A Case Report.
    2 days ago
    Graves' disease can manifest with psychiatric symptoms, notably manic symptoms. We report the case of a 31-year-old patient with no notable medical or psychiatric history, admitted for a first manic episode characterized by a labile mood, psychomotor agitation, and insomnia without fatigue, associated with delusional ideas. Clinical examination found exophthalmos with anterior neck swelling. Biological assessment showed hyperthyroidism with suppressed thyroid-stimulating hormone (TSH), elevated free thyroxine, and positive anti-TSH receptor antibodies, leading to the diagnosis of Graves' disease. The patient benefited from treatment combining olanzapine, carbamazepine, methimazole, and propranolol. Clinical evolution was marked by rapid improvement of psychiatric symptoms. This case underlines the importance of performing a thorough clinical examination and excluding organic causes before concluding a psychiatric disorder.
    Mental Health
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    Care/Management
  • Methadone treatment and associated health and social outcomes after a national manufacturing closure in Mexico: a longitudinal observational cohort study in Tijuana.
    2 days ago
    Medications for opioid use disorder (MOUD) are key to the prevention of drug overdose and bloodborne infections among people with OUD while also improving psycho-social wellbeing. From February to August 2023, following government orders, Psicofarma, Mexico's primary methadone production facility remained closed, interrupting its supply nationwide. We aimed to explore associations between the time periods during and after the closure and prevalence of methadone treatment, drug use, mental health and social harms among methadone treatment patients.

    We examined these associations among 200 MOUD clinic patients in Tijuana, using log-binomial regressions via generalized estimating equations (GEE) over three six-month response periods during and post-closure (Period 1, during and post: 07/2023-01/2024, Period 2, post, limited availability: 02/2024-07/2024 and Period 3, post, restored availability but fewer clinics open: 08/2024-12/2024). We ran three sets of GEE models to test for potential mediation effects of methadone treatment on associations between response period and deleterious outcomes.

    Time period was associated with methadone treatment (i.e., significant decline from 36% in Period 1-13% and 26% in Periods 2 and 3, respectively), and with drug use (opioids, methamphetamine, benzodiazepines, injection use), and mental health (anxiety symptoms) outcomes.

    Methadone treatment often suppressed the strength of the associations between time periods during and after the Psicofarma's closure and drug use/mental health outcomes, which was consistent with a partial mediating role, but formal causal mediation could not be established due to data limitations. Although other unmeasured changes may have occurred during the study period, these findings suggest that the methadone shortage may have contributed to prolonged adverse effects on patients and highlight the need for policies that ensure consistent MOUD provision in Mexico, including the authorization of buprenorphine for the treatment of OUD.

    This study was funded by the National Institute on Drug Abuse (R01DA049644, K01DA062723, T32DA023356, R33DA061260) and the San Diego Center for AIDS Research, an NIH supported program (P30 AI036214).
    Mental Health
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  • Mental health risks before the threshold: A longitudinal study of housing cost burden and depressive symptoms in South Korea.
    2 days ago
    This study explores how depressive symptoms change across a gradual spectrum of housing cost burdens rather than at a single affordability benchmark.

    Drawing on twelve waves of the Korean Welfare Panel Study (2012-2023), we created a series of housing cost cut-offs and estimated their associations with household heads' depressive symptom scores using a panel hybrid model.

    Findings show that depressive symptoms begin to rise once housing payments claim a modest share of income, well below the long-standing 30% guideline, and then intensify in a steady, gradual pattern as the burden grows. The association between housing cost burden and depressive symptoms becomes statistically significant at an 11% threshold and remains significant up to the conventional 30% benchmark. The most pronounced effect is observed near the 27% burden cut-off. Tenure-specific analyses further indicated that this graded association was concentrated primarily among renters.

    Our results indicate that mental health risks emerge at moderate cost levels and build progressively, suggesting that policies attuned to the early stages of housing cost strain may help prevent psychological distress from becoming entrenched.
    Mental Health
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