Search Results (100)

Background/Objectives: Wilson’s disease (WD) is a rare autosomal recessive disorder of copper metabolism that results in hepatic, neurological, and psychiatric manifestations. Despite being described globally, data from the Middle East remains limited. This study presents the first comprehensive national cohort analysis of WD in Oman, examining clinical features, diagnostic challenges, treatment patterns, and long-term outcomes. Methods: A retrospective cohort study was conducted on 36 Omani patients diagnosed with WD between 2013 and 2020 at Sultan Qaboos University Hospital using AASLD diagnostic criteria. Clinical presentation, biochemical parameters, treatment regimens, and progression-free survival were analyzed. Results: The median age at diagnosis was 14.5 years, with a slight female predominance (55.6%). Clinical presentation varied: 25% had hepatic symptoms, 22.2% had mixed hepatic-neurological features, and 16.7% presented with neurological symptoms alone. Asymptomatic cases identified via family screening accounted for 33.3%. Diagnostic delays were most pronounced among patients presenting with neurological symptoms. A positive family history was reported in 88.9% of cases, suggesting strong familial clustering despite a low rate of consanguinity (5.6%). Regional distribution was concentrated in Ash Sharqiyah North and Muscat. Chelation therapy with trientine or penicillamine, often combined with zinc, was the mainstay of treatment. Treatment adherence was significantly associated with improved progression-free survival (p = 0.012). Conclusions: WD in Oman is marked by heterogeneous presentations, frequent diagnostic delays, and strong familial clustering. Early detection through cascade screening and sustained treatment adherence are critical for favorable outcomes. These findings support the need for national screening policies and structured long-term care models for WD in the region. Full article

Introduction: Burnout syndrome, long described as an “occupational phenomenon”, now affects 15–20% of the general workforce and more than 50% of clinicians, teachers, social-care staff and first responders. Its precise nosological standing remains disputed. We conducted a mechanistic review of electroencephalography (EEG) studies to determine whether burnout is accompanied by reproducible brain-function alterations that justify disease-level classification. Methods: Following PRISMA-adapted guidelines, two independent reviewers searched PubMed/MEDLINE, Scopus, Google Scholar, Cochrane Library and reference lists (January 1980–May 2025) using combinations of “burnout,” “EEG”, “electroencephalography” and “event-related potential.” Only English-language clinical investigations were eligible. Eighteen studies (n = 2194 participants) met the inclusion criteria. Data were synthesised across three domains: resting-state spectra/connectivity, event-related potentials (ERPs) and longitudinal change. Results: Resting EEG consistently showed (i) a 0.4–0.6 Hz slowing of individual-alpha frequency, (ii) 20–35% global alpha-power reduction and (iii) fragmentation of high-alpha (11–13 Hz) fronto-parietal coherence, with stage- and sex-dependent modulation. ERP paradigms revealed a distinctive “alarm-heavy/evaluation-poor” profile; enlarged N2 and ERN components signalled hyper-reactive conflict and error detection, whereas P3b, Pe, reward-P3 and late CNV amplitudes were attenuated by 25–50%, indicating depleted evaluative and preparatory resources. Feedback processing showed intact or heightened FRN but blunted FRP, and affective tasks demonstrated threat-biassed P3a latency shifts alongside dampened VPP/EPN to positive cues. These alterations persisted in longitudinal cohorts yet normalised after recovery, supporting trait-plus-state dynamics. The electrophysiological fingerprint differed from major depression (no frontal-alpha asymmetry, opposite connectivity pattern). Conclusions: Across paradigms, burnout exhibits a coherent neurophysiological signature comparable in magnitude to established psychiatric disorders, refuting its current classification as a non-disease. Objective EEG markers can complement symptom scales for earlier diagnosis, treatment monitoring and public-health surveillance. Recognising burnout as a clinical disorder—and funding prevention and care accordingly—is medically justified and economically imperative. Full article

Background and Objectives: Acceptance and commitment therapy (ACT) enhances psychological flexibility by fostering acceptance of thoughts and emotions, promoting mindfulness practices, and encouraging engagement in value-based actions. These processes have been associated with improvements in mental health and social functioning, with accumulating evidence supporting ACT’s efficacy across various psychiatric disorders. This systematic review aimed to evaluate current evidence on ACT interventions for reducing psychiatric symptoms and enhancing social functioning and interpersonal relationships in adults with psychiatric conditions. Materials and Methods: A comprehensive search was conducted across PubMed, Web of Science, the Cochrane Library, and Embase for studies published between 2014 and 2024. The review protocol was registered on the Open Science Framework (OSF; registration ID: 2ZAGT). Results: Seventeen studies met the inclusion criteria; however, the evidence base remained fragmented, with most psychiatric diagnoses represented by only one or two studies. The reviewed studies exhibited several methodological limitations, including small sample sizes, lack of randomization and blinding, high risk of bias, reliance on subjective outcome measures, and inadequately designed or absent control groups. Despite these limitations, ACT was associated with beneficial effects in conditions such as post-traumatic stress disorder (PTSD), insomnia, psychosis, and autism spectrum disorder, particularly in reducing experiential avoidance, enhancing mindfulness, and promoting long-term improvements in emotional regulation and life satisfaction. Conclusions: Due to the limited number of studies per diagnosis, significant methodological weaknesses, and the lack of high-quality controlled trials, this review cannot provide strong evidence for the efficacy of ACT in improving social functioning among adults with psychiatric disorders. The heterogeneity and overall low quality of the available literature highlight the urgent need for further large-scale well-controlled studies. Full article

Purpose: Suicide is a leading cause of death among children and adolescents worldwide. This study examined the prevalence and characteristics of suicides among children and adolescents (aged ≤ 19 years) over a 13-year period in the broader area of Athens, Greece. Key aspects analyzed included victim demographics, circumstances surrounding the incidents, and methods employed. Methods: A retrospective analysis was conducted on autopsy cases performed at the Department of Forensic Medicine and Toxicology, National and Kapodistrian University of Athens, from 1 January 2011, to 31 December 2023. Results: Out of 5819 autopsies conducted between 2011 and 2023, 371 were classified as suicides. Among these, 12 cases (representing 3.2% of suicides) involved children and adolescents aged ≤ 19 years and met the study’s inclusion criteria for detailed forensic analysis. The average age of the victims was 17.7 ± 2.1 years (range: 14–19), with males representing 58.3% of cases. Hanging was the most common method of suicide (9 cases, 75.0%), followed by firearm use, falls from height, and hydrogen sulfide inhalation (one case each). Death occurred in the home in 10 cases (83.3%), with 6 specifically taking place in the bedroom. Scars indicative of prior self-harming behavior were present in two cases (16.7%), while suicide notes were found in three cases (25.0%). Toxicological analysis revealed alcohol and cannabis use in one case, cannabis alone in one case, and alcohol alone in two cases. Four victims (33.3%) had a documented psychiatric diagnosis, with two of them under antidepressant treatment at the time of death. Conclusions: This study highlights the forensic value of autopsy-based investigations in unveiling hidden patterns of adolescent suicidality and informs targeted prevention strategies. Integrating medico-legal findings into public health responses may enhance early identification and intervention in vulnerable youth populations. Full article

Psychiatric disorders, particularly schizophrenia (SCZ), bipolar disorder (BD), and schizoaffective disorder (SAD), present significant diagnostic challenges. Current diagnostic methods rely on clinical observation and self-reported symptoms, leading to under-diagnosis and delayed treatment. To address this gap, we applied mass spectrometry-based metabolomic profiling and targeted analysis of inflammatory proteins to plasma samples from patients versus controls, aiming to uncover disease-related molecular patterns and enhance our understanding of the underlying pathophysiology of these complex disorders. This study included 26 patients with BD, 34 with SCZ, 16 with SAD, and age- and sex-matched controls. All diagnoses were established according to DSM-5 criteria. Unsupervised analysis shows a clear separation between controls and patients, indicating distinct metabolic and inflammatory profiles. However, the lack of clear differentiation among the three disease subgroups suggests shared biological profiles across these psychiatric disorders. Biomolecules driving this separation between controls and patients includes decreased levels of proinflammatory cytokines, amino acids, and glycerophospholipids, and increased levels of acylcarnitines. This study represents a step towards addressing the limitations of current diagnostic approaches to severe psychiatric disorders, which rely heavily on clinical symptoms, by using omics approaches to refine their diagnosis and treatment. Full article

Bipolar disorder (BD) and schizophrenia (SCH) are results of the complex interactions between genetic and environmental factors, and the underlying pathophysiology is not yet completely understood. The current diagnostic criteria for psychiatric diagnosis are based purely on clinical phenomenology and they are limited to psychiatrist judgment after a standardized clinical interview, with no precise biomarkers used to discriminate between the disorders. Besides gaps in the understanding and diagnosis of these diseases, there is also a need for personalized and precise approaches to patients through customized medical treatment and reliable monitoring of treatment response. To fulfill existing gaps, the establishment of disorder biomarker sets is a necessary step. LC-MS lipidomic blood sample analysis is one of the ongoing omics approaches. In the last ten years, several studies have identified alterations in lipid metabolism associated with BD and SCH, and this review summarizes current knowledge on their lipidomic patterns, which is essential for identifying lipid biomarkers. Currently, findings indicate decreases in plasmalogens and acyl-carnitines, along with increases in certain triacylglycerol species, shared by both conditions. In contrast, serum LC-MS lipidomic profiles of sphingolipids including ceramides could be unique to BD, indicating the need for further investigation in future studies. Full article

Background: Out-of-hospital cardiac arrest (OHCA) survivors and their relatives may face challenges following hospital discharge, relating to mood, cognition, and returning to normal day-to-day activities. Identified research gaps include a lack of knowledge around what type of intervention is needed to best navigate recovery. In this study, we investigate the feasibility and patient acceptability of a new virtual psychoeducational group intervention for OHCA survivors and their relatives and compare it to a control group receiving a digital information booklet. Methods: V-CARE is a comparative, single-blind randomized pilot trial including participants at selected sites of the STEPCARE trial, in the United Kingdom and Sweden. Inclusion criteria are a modified Rankin Scale (mRS) ≤ 3 at 30-day follow-up; no diagnosis of dementia; and not experiencing an acute psychiatric episode. One caregiver per patient is invited to participate optionally. The intervention group in V-CARE receives four semi-structured, one-hour-long, psychoeducational sessions delivered remotely via video call by a trained clinician once a week, 2–3 months after hospital discharge. The sessions cover understanding cardiac arrest; coping with fatigue and memory problems; managing low mood and anxiety; and returning to daily life. The control group receives an information booklet focused on fatigue, memory/cognitive problems, mental health, and practical coping strategies. Results: Primary: feasibility (number of patients consented) and acceptability (retention rate); secondary: satisfaction with care (Client Satisfaction Questionnaire 8 item), self-management skills (Self-Management Assessment Scale) and, where available, health-related outcomes assessed in the STEPCARE Extended Follow-up sub-study including cognition, fatigue, mood, quality of life, and return to work. Conclusions: If preliminary insights from the V-CARE trial suggest the intervention to be feasible and acceptable, the results will be used to design a larger trial aimed at informing future interventions to support OHCA recovery. Full article

Background/Objectives: Potomania and beer potomania are rare but important causes of dilutional hyponatremia, resulting from excessive fluid intake combined with low solute consumption. This systematic review aimed to identify and describe the clinical presentations, underlying causes, complications, and management approaches in published case reports of these conditions. Methods: A systematic search was conducted in PubMed, Embase, Web of Science, and Scopus. Inclusion criteria were case reports and letters to the editor with confirmed diagnoses of potomania or beer potomania. The Joanna Briggs Institute (JBI) checklist was used to evaluate study quality. The SPIDER framework guided the selection process. A qualitative, narrative synthesis was performed. Results: Forty-four cases were included. Hyponatremia was the most frequent finding, commonly accompanied by neurological symptoms such as confusion and seizures. Beer potomania was more prevalent among male patients and associated with alcohol consumption and poor nutrition. Potomania was linked to restrictive diets, psychiatric disorders, or excessive intake of various non-alcoholic fluids. Management typically involved fluid restriction, correction of electrolytes, nutritional support, and psychiatric care. Five cases developed osmotic demyelination syndrome due to rapid sodium correction. Conclusions: Increased clinical awareness of potomania and beer potomania is essential to prevent severe outcomes. Early identification, individualized management, and cautious correction of serum sodium are crucial. Despite the limitations of case report evidence, this review provides meaningful insights into diagnosis and treatment. Full article

Background and Objectives: Neuropsychiatric disorders, including schizophrenia, bipolar disorder, and major depression, constitute a leading global public health challenge due to their high prevalence, chronicity, and profound cognitive and functional impact. This systematic review explores the role of electroencephalography (EEG)-based cognitive biomarkers in improving the understanding, diagnosis, monitoring, and treatment of these conditions. It evaluates how EEG-derived markers can reflect neuro-cognitive dysfunction and inform personalized and scalable mental health interventions. Materials and Methods: A systematic review was conducted following PRISMA guidelines. The databases searched included PubMed, Scopus, PsycINFO, and Web of Science for peer-reviewed empirical studies published between 2014 and 2025. Inclusion criteria focused on EEG-based investigations in clinical populations with neuropsychiatric diagnoses, emphasizing studies that assessed associations with cognitive function, symptom severity, treatment response, or functional outcomes. Of the 447 initially identified records, 132 studies were included in the final synthesis. Results: This review identifies several EEG markers—such as mismatch negativity (MMN), P300, frontal alpha asymmetry, and theta/beta ratios—as reliable indicators of cognitive impairments across psychiatric populations. These biomarkers are associated with deficits in attention, memory, and executive functioning, and show predictive utility for treatment outcomes and disease progression. Methodological trends indicate an increasing use of machine learning and multimodal neuroimaging integration to enhance diagnostic specificity. While many studies exhibit moderate risk of bias, the overall findings support EEG biomarkers’ reproducibility and translational relevance. Conclusions: EEG-based cognitive biomarkers offer a valuable, non-invasive means of capturing the neurobiological underpinnings of psychiatric disorders. Their diagnostic and prognostic potential, as well as high temporal resolution and portability, supports their use in clinical and public health contexts. The field, however, requires further standardization, cross-validation, and investment in scalable applications. Advancing EEG biomarker research holds promise for precision psychiatry and proactive mental health strategies at the population level. Full article

Background/Objectives: The Mood Disorder Questionnaire (MDQ) is a widely used tool for the early detection of Bipolar Disorder (BD), yet its diagnostic accuracy remains debated. In particular, the MDQ often yields false positives in individuals with anxiety, stress-related, or personality disorders, raising questions about its clinical utility. This study aimed primarily to evaluate the sensitivity, specificity, and predictive values of the MDQ in identifying BD within a large, community-based sample using structured clinical interviews. Additionally, we explored the construct of DYMERS (Dysregulation of Mood, Energy, and Social Rhythms Syndrome), a proposed condition characterized by mood instability, hyperactivation traits, and rhythm dysregulation among MDQ-positive individuals without a formal psychiatric diagnosis. Methods: A total of 4999 adults were surveyed across six Italian regions using a stratified random sampling method. Psychiatric diagnoses were established using DSM-IV-TR criteria via the Advanced Neuropsychiatric Tools and Assessment Schedule (ANTAS). The MDQ was administered face to face in its validated Italian version, with a positivity cut-off of ≥7. The MDQ exhibited low sensitivity and high specificity (0.962; 95% CI: 0.961–0.963). Results: Among 2337 analyzable cases, the MDQ showed high specificity (96.2%) but low sensitivity (42.9%) for BD, indicating limited effectiveness as a screening tool. In clinical terms, this implies that while MDQ-positive individuals are unlikely to be false positives, a substantial proportion of true BD cases are not identified. Notably, a significant subgroup of MDQ-positive individuals without psychiatric diagnoses displayed features consistent with DYMERS. Conclusions: Our findings confirm the limited screening value of the MDQ for BD in community samples. However, MDQ positivity may help identify a broader spectrum of mood and rhythm dysregulation not captured by current diagnostic systems. Future research should focus on validating DYMERS as a clinical entity and on developing targeted diagnostic instruments capable of capturing this emerging dimension of psychopathology. Full article

Background/Objectives: Despite documented benefits across multiple outcome areas, referral and uptake into pulmonary rehabilitation (PR) following discharge after an exacerbation of chronic obstructive pulmonary disease (COPD) is low in many health care systems. Surveys documenting this underutilization may ignore the fact of disease severity or comorbidity severe enough to make many patients ineligible based on accepted selection criteria for the intervention. The aim of this study was to evaluate the magnitude of non-eligibility for PR following discharge after a COPD exacerbation. Methods: Medical records of COPD patients discharged over a one-year period in two hospitals were reviewed. Records from 353 patients discharged home were reviewed by six clinicians with experience in respiratory medicine and/or PR, three at each hospital. Results: The mean age of the total sample was 71 ± 12 years; 53% were female. Full concordance (all three reviewers agreed on the eligibility or non-eligibility of each patient) was 73%. Our eligibility criterion (two of three reviewers agreed) for PR was 39%. Categories (%) of non-eligibility criteria included the severity of medical condition(s) (44%), cognitive problems, psychiatric disease or substance abuse (24%), incorrect diagnosis (18%), institutionalized post-discharge (9%), and language barriers (4%) (patients may have been placed into more than one criteria category). Conclusions: Our study indicates that a majority of patients with clinical diagnoses of COPD discharged following exacerbations may not be appropriate referrals to PR based on accepted inclusion and/or exclusion criteria for the intervention. However, even after taking this into account, PR uptake is still critically underutilized. Full article

Background/Objectives: The present systematic review analyses the neuroradiological findings in subjects with axis I psychiatric disorders (i.e., bipolar, major depressive, schizophrenic, anxiety, and post-traumatic stress disorders) and comorbid substance use disorder in order to elucidate the organic changes that occur in the brains of people suffering from both conditions. Methods: We analysed and compared the different neuroimaging findings extracted from 93 studies and 10,823 patients; articles were obtained from three databases (Scopus, PubMed [Medline], and the Cochrane Controlled Register of Trials [Central]) and subjected to specific eligibility criteria. We selected articles that assessed patients with axis I psychiatric conditions and a comorbid substance abuse disorder; articles had to report relevant neuroimaging findings and bias was assessed via the Newcastle–Ottawa scale. Results: Significant findings were found on the structure or function of psychiatric patients’ brains with comorbid substance abuse, with certain key areas that were further affected by substance use, especially in areas involved in reward processing, with reductions in volume and connectivity and the augmentation of stimuli-related activity. Conclusions: These results present important implications on the current understanding of psychiatric disorders and comorbid substance use, on the importance of neuroradiological tools in the diagnosis and treatment of these disorders, and on the search for potential new targets for the treatment of psychiatric disease and substance addiction. Full article

Ekbom Syndrome, also known as Delusional Parasitosis (DP), is considered a rare psychiatric condition. Based on diagnostic criteria, it is characterized by the strong belief of being infested with various parasites, as well as the presence of perceptual disturbances, usually tactile and/or visual hallucinations. The syndrome can manifest idiopathically or in connection with other medical conditions and substance use. Diagnosis is challenging, as patients tend to pursue dermatological care initially. This case report describes an 81-year-old female diagnosed with Ekbom Syndrome, presenting with severe anxiety, insomnia, and persistent delusions of infestation. Initial treatment with low-dose Risperidone (2 mg/day) was ineffective, requiring a dose escalation to 4 mg/day. However, the patient’s nonadherence to follow-up limited the assessment of long-term outcomes. This case highlights key clinical challenges in elderly patients, particularly dose titration, treatment response, and adherence issues. Comparative analysis with prior case reports suggests that higher doses of Risperidone (3–6 mg/day) may be required for symptom remission, but long-term outcomes remain uncertain. Additionally, nonadherence remains a major barrier, underscoring the need for structured monitoring and caregiver involvement. These findings offer insights into antipsychotic strategies for Ekbom Syndrome, highlighting individualized pharmacotherapy, long-term follow-up, and adherence support in elderly patients. Full article

Background: Alexithymia is characterized by a deficit in identifying and communicating feelings. Emerging evidence suggests that it is highly prevalent in migraine, where it could affect the pain expression. This pilot study on female migraineurs aimed at assessing any relationship between alexithymia and headache attacks in terms of frequency and pain intensity. Methods: All the patients (42) who fulfilled the diagnostic criteria for migraine were enrolled in this pilot, observational, cross-sectional study after having obtained written informed consent. A psychological assessment was made of each patient to identify any alexithymia using the TAS-20 scale, for anxiety/mood comorbidity (the STAI-Y1, STAI-Y2, and BDI-II) and for migraine-related disability (the HIT-6). An HPI index (attack frequency x pain intensity) was also calculated for each patient, based on their headache diaries. A multivariate analysis was performed to investigate any association among the TAS-20 score, HPI score, and the following covariates: BDI-II, STAI-Y1, STAI-Y2, HIT-6 scores, age, education, and disease duration. Results: Overall, 35.6% of the sample were given a diagnosis of alexithymia. After removing a subgroup of 7 subjects with HPI > 100, with more severe psychiatric comorbidity and a longer disease duration from the whole sample, a multivariate analysis detected a statistically significant (p = 0.010) association between the HPI and TAS-20 scores. Conclusions: This pilot study suggests that alexithymia may play a role in increasing the frequency and pain intensity of migraine attacks, consequently worsening disability in female migraineurs. Further studies are required to confirm this finding. Full article

Mental illnesses can have a significant impact on individuals experiencing acute coronary syndromes (ACS). Mental illnesses are associated with an increased cardiovascular risk profile and early onset of cardiovascular disease. A critical aspect of this interplay is the effect of psychiatric conditions on left ventricular ejection fraction (LVEF), a key parameter in evaluating cardiac function and predicting long-term outcomes in ACS patients. The present single-center, retrospective study investigated the associations between psychiatric conditions and cardiac function, with a focus on LVEF in ACS patients. The inclusion criteria were Italian nationality and 30 years or older. One hundred and sixty-four patients without (M_age = 68.8 ± 10.6, 62 females) and 161 patients with a psychiatric diagnosis (M_age = 68.4 ± 13.7, 63 females) were enrolled. The data collected included sociodemographic variables, psychiatric diagnoses, LVEF, ACS type (STEMI/NSTEMI), smoking status, previous interventions, and pharmacological treatments. Statistical analyses included chi-square, t-tests, ANOVAs, and ANCOVA to assess differences across groups. Findings revealed lower LVEF in patients with a psychiatric diagnosis compared to patients without a psychiatric diagnosis (p = 0.004, d = 0.36). Patients without a psychiatric diagnosis were associated with NSTEMI (p = 0.047, φ = 0.11), hypertension (p = 0.003, φ = −0.16), and dyslipidemia (p = 0.022, φ = −0.13). In contrast, patients with a psychiatric diagnosis were associated with STEMI (p = 0.047, φ = 0.11), neurological dysfunction (p = 0.014, φ = 0.14), and chronic obstructive pulmonary disease (p = 0.010, φ = 0.14). Among psychiatric diagnoses, anxiety disorders were associated with lower LVEF compared to substance abuse disorders (p = 0.012, d = −0.81). The findings underscore the complex relationship between mental illness and cardiac function, emphasising the need to integrate psychiatric evaluations into cardiology care to optimise the management of both mental and cardiovascular health. This study has several limitations, including its design, which prevents causal conclusions, and the use of convenience sampling, which limits the generalizability of the findings. Full article