Search Results (3,749)

Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder in childhood, characterized by persistent inattention, hyperactivity, and impulsivity. This narrative review aims to synthesize and critically evaluate recent large-scale magnetic resonance imaging (MRI) studies to clarify the neuroanatomical and functional brain alterations associated with ADHD in children. By addressing current gaps in understanding, this work seeks to identify reliable neurobiological markers that could improve diagnostic accuracy and guide personalized interventions. The literature reveals that large-scale structural MRI studies consistently report abnormal development in total cortical volume and surface area, prefrontal cortex volume, and basal ganglia volume in children with ADHD. Moreover, gray matter alterations show significant age-dependent effects, with the degree of impairment potentially serving as neurobiological markers. Diffusion magnetic resonance imaging studies reveal disrupted white matter microstructures in regions such as the left uncinate fasciculus, superior and inferior longitudinal fasciculi, corpus callosum, cingulum, and internal capsule. Importantly, these white matter abnormalities often persist into adulthood, highlighting their clinical relevance. Functional MRI findings indicate reduced global connectivity within core hubs of the default mode network in children with ADHD. Furthermore, deficits in inhibitory control identified via fMRI may represent one of the neurofunctional signatures that differentiates ADHD from typically developing controls. By consolidating evidence from large-scale multimodal MRI studies, this review provides a comprehensive understanding of the neurodevelopmental alterations in ADHD and underscores their potential utility for improving diagnosis and treatment. Full article

Background: Gastrointestinal discomfort affects up to 70% of individuals with spinal cord injury (SCI), largely due to gut dysbiosis caused by altered transit time and reduced gastrointestinal motility from autonomic disruption. Emerging evidence links prebiotics and probiotics to improved microbiome balance and reduced inflammation, yet data in SCI remain limited. Methods: Individuals aged ≥ 18 years, with a chronic SCI (≥1 year) experiencing significant gastrointestinal symptoms, will be invited to participate in this single-center randomized controlled crossover trial. Persons currently taking antibiotics, who have relevant eating or digestive disorders, or who have undergone a recent diet change will be excluded from the study. Participants will be randomized (1:1) into two groups. The first group will take a probiotic (Biotics-G, Burgerstein AG, Rapperswil-Jona, Switzerland) supplement for eight weeks, then after a four-week washout period, they will take a prebiotic (Oat Bran, Naturaplan, manufactured by Swissmill, Zurich, Switzerland) supplement for another eight weeks. The second group will receive the supplements in reverse order. The primary outcome is the Gastrointestinal Quality of Life Index, a questionnaire to assess quality of life related to gastrointestinal disorders. Secondary outcomes consist of gastrointestinal transit time, inflammatory blood markers, and gut microbiome composition. Ethics: The study will be conducted in accordance with the Declaration of Helsinki. The study was approved by the Ethics Committee for Northwest/Central Switzerland (EKNZ, ID: 2025-00238, 24.02.2025, Version 2.0). The study is registered at ClinicalTrials.gov (ID: NCT06870331, 02.04.2025). Written informed consent will be obtained from all participants involved in the study. Full article

Background: Adolescence is a developmental phase characterised by profound biological, emotional and social changes and these changes make adolescents particularly vulnerable to the emergence of psychiatric disorders. In this context, gender differences in mental health disorders are of increasing clinical interest. Method: We conducted a scoping review of the literature regarding gender differences in psychiatric disorders during adolescence. Three databases, PubMed, Web of Science and EBSCO, were used to identify articles published in English from 2015 until 2025. Twenty-one studies fulfilled the inclusion criteria. Results: Ten studies deal with mood disorders, with a focus on gender differences in depression and anxiety during adolescence. Two articles analyse eating disorders, highlighting that girls show higher levels of food restriction and body dissatisfaction. Two studies focus on externalising and neurobehavioural disorders, showing a higher prevalence in boys than in girls. Four articles examine self-harm and suicidal behaviour, where girls report higher rates of suicidal ideation and self-harm. Finally, two studies address personality disorders in adolescence, noting a higher incidence of borderline traits and impulsive behaviour among girls. Conclusions: Research has revealed gender differences in the onset, frequency and factors associated with psychiatric disorders in adolescence. Understanding these differences is essential for developing prevention strategies, early diagnosis and specific interventions. Full article

Background and Objectives: Payment parity laws require commercial health plans to pay for telehealth on the same basis as in-person care. We systematically reviewed open-access empirical studies to identify and synthesize empirical U.S. studies that explicitly evaluated state telehealth payment parity (distinct from coverage-only parity) and to summarize reported effects on telehealth utilization, modality mix, quality/adherence, equity/access, and expenditures. Methods: Following PRISMA 2020, we searched PubMed/MEDLINE, Scopus, and Web of Science for U.S. studies that explicitly modeled state payment parity or stratified results by payment parity vs. coverage-only vs. no parity. We included original quantitative or qualitative studies with a time or geographic comparator and free full-text availability. The primary outcome was telehealth utilization (share or odds of telehealth use); secondary outcomes were modality mix, quality and adherence, equity and access, and spending. Because designs were heterogeneous (interrupted time series [ITS], difference-in-differences [DiD], regression, qualitative), we used structured narrative synthesis. Results: Nine studies met inclusion criteria. In community health centers (CHCs), payment parity was associated with higher telehealth use (42% of visits in parity states vs. 29% without; Δ = +13.0 percentage points; adjusted odds ratio 1.74, 95% CI 1.49–2.03). Among patients with newly diagnosed cancer, adjusted telehealth rates were 23.3% in coverage + payment parity states vs. 19.1% in states without parity, while cross-state practice limits reduced telehealth use (14.9% vs. 17.8%). At the health-system level, parity mandates were linked to a +2.5-percentage-point telemedicine share in 2023, with mental-health (29%) and substance use disorder (SUD) care (21%) showing the highest telemedicine shares. A Medicaid coverage policy bundle increased live-video use by 6.0 points and the proportion “always able to access needed care” by 11.1 points. For hypertension, payment parity improved medication adherence, whereas early emergency department and hospital adoption studies found null associations. Direct spending evidence from open-access sources remained sparse. Conclusions: Across ambulatory settings—especially behavioral health and chronic disease management—state payment parity laws are consistently associated with modest but meaningful increases in telehealth use and some improvements in adherence and perceived access. Effects vary by specialty and are attenuated where cross-state practice limits persist, and the impact of payment parity on overall spending remains understudied. Full article

Inflammatory Bowel Diseases (IBD), which include Crohn’s disease (CD) and ulcerative colitis (UC), are chronic, immune-mediated disorders marked by persistent and recurrent inflammation of the gastrointestinal tract. Over the past two decades, major advances in understanding the immunologic and molecular pathways that drive intestinal injury have transformed the therapeutic landscape. This progress has enabled the development of novel biologics and small-molecule agents that more precisely target dysregulated immune responses, thereby improving clinical outcomes and quality of life for many patients. Despite these therapeutic advances, IBD remains a highly heterogeneous condition. Patients differ widely in disease phenotype, progression, and response to specific treatments. Consequently, selecting the most effective therapy for an individual patient requires careful consideration of clinical features, molecular markers, and prior treatment history. The shift toward personalized, prediction-based treatment strategies aims to optimize the timing and choice of therapy, minimize unnecessary exposure to ineffective drugs, and ultimately alter the natural course of disease. In this review, we provide a comprehensive overview of current evidence guiding drug positioning in IBD, with particular emphasis on biologic therapies and small-molecule inhibitors. We also examine emerging biomarkers, clinical predictors of response, and real-world factors that influence therapeutic decision-making. Finally, we discuss the challenges and limitations that continue to hinder widespread implementation of personalized strategies, underscoring the need for further research to integrate precision medicine into routine IBD care. Full article

Women exhibit a higher prevalence of depression, anxiety, stress-related disorders, and autoimmune conditions compared to men, yet the biological mechanisms underlying this sex difference remain incompletely understood. Growing evidence identifies neuroinflammation as a central mediator of psychiatric vulnerability in women, shaped by interactions between sex hormones, immune activation, and neural circuit regulation. Throughout the female lifespan, fluctuations in estrogen and progesterone, such as those occurring during puberty, the menstrual cycle, pregnancy, postpartum, and perimenopause, modulate microglial activity, cytokine release, and neuroimmune signaling. These hormonal transitions create windows of heightened sensitivity in key brain regions involved in affect regulation, including the amygdala, hippocampus, and prefrontal cortex. Parallel variations in systemic inflammation, mitochondrial function, and hypothalamic–pituitary–adrenal (HPA) axis responsivity amplify stress reactivity and autonomic imbalance, contributing to increased risk for mood and anxiety disorders in women. Emerging data also highlight sex-specific interactions between the immune system and monoaminergic neurotransmission, gut–brain pathways, endothelial function, and neuroplasticity. This review synthesizes current neuroscientific evidence on the sex-dependent neuroinflammatory mechanisms that bridge hormonal dynamics, brain function, and psychiatric outcomes in women. We identify critical periods of vulnerability, summarize converging molecular pathways, and discuss novel therapeutic targets including anti-inflammatory strategies, estrogen-modulating treatments, lifestyle interventions, and biomarkers for personalized psychiatry. Understanding neuroinflammation as a sex-specific process offers a transformative perspective for improving diagnosis, prevention, and treatment of psychiatric disorders in women. Full article

Background/Objectives: Diabetes mellitus and hypertension are the first and second most common causes of chronic kidney disease, respectively. Despite improvements in elucidating the pathophysiology behind these diseases and the expansion of the therapeutic armamentarium, the knowledge about the implicated genes, epigenetics, and biological pathways is limited. Methods: We sought to define diabetic nephropathy-specific and hypertensive nephropathy-specific gene signatures in human glomeruli through computational systems biology approaches. Results: Gene expression data of human glomeruli from patients with diabetic kidney disease (DKD) and hypertensive nephropathy (HTN) were collected and compared to gene expression patterns from healthy kidneys. Pathways were identified with functional enrichment analysis of DEGs. Transcription factor enrichment analysis, protein–protein interaction network expansion, and kinase enrichment analysis were also performed. Finally, novel drugs and small-molecule compounds that may reverse the kidney-specific phenotype of these disorders have been identified. Conclusions: These data suggest putative expansion of the therapeutic armamentarium in DKD and HTN, underscoring that understanding the molecular mechanisms occurring within tissue in kidney diseases may guide personalized therapy. Full article

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impairments in social interaction and communication, along with atypical behavioral patterns. Affected individuals often seem isolated in their inner world and exhibit particular sensory reactions. The World Health Organization has indicated a persistent increase in the global prevalence of autism, with approximately 1 in 127 persons affected worldwide. This study contributes to the growing research effort by presenting a comprehensive analysis of functional connectivity patterns for ASD prediction using rs-fMRI datasets. A novel approach was used for ASD identification using the ABIDE II dataset, based on functional networks derived from BOLD signals. The sparse functional brain connectome (Lean-NET) model is employed to construct subject-specific connectomes, from which local graph metrics are extracted to quantify regional network properties. Statistically significant features are selected using Welch’s t-test, then subjected to False Discovery Rate (FDR) correction and classified using a Support Vector Machine (SVM). Our experimental results demonstrate that locally derived graph metrics effectively discriminate ASD from typically developing (TD) subjects and achieve accuracy ranging from 70% up to 91%, highlighting the potential of graph learning approaches for functional connectivity analysis and ASD characterization. Full article

Hair loss disorders, particularly androgenetic alopecia (AGA), are common conditions that carry significant psychosocial impact. Current standard therapies, including minoxidil, finasteride, and hair transplantation, primarily slow progression or re-distribute existing follicles and do not regenerate lost follicular structures. In recent years, regenerative medicine has been associated with a gradual shift toward approaches that aim to restore follicular function and architecture. Stem cell-derived conditioned media and exosomes have shown the ability to activate Wnt/β-catenin signaling, enhance angiogenesis, modulate inflammation, and promote dermal papilla cell survival, resulting in improved hair density and shaft thickness with favorable safety profiles. Autologous cell-based therapies, including adipose-derived stem cells and dermal sheath cup cells, have demonstrated the potential to rescue miniaturized follicles, although durability and standardization remain challenges. Adjunctive interventions such as microneedling and platelet-rich plasma (PRP) further augment follicular regeneration by inducing controlled micro-injury and releasing growth and neurotrophic factors. In parallel, machine learning-based diagnostic tools and deep hair phenotyping offer improved severity scoring, treatment monitoring, and personalized therapeutic planning, while robotic Follicular Unit Excision (FUE) platforms enhance surgical precision and graft preservation. Advances in tissue engineering and 3D follicle organoid culture suggest progress toward producing transplantable follicle units, though large-scale clinical translation is still in early development. Collectively, these emerging biological and technological strategies indicate movement beyond symptomatic management toward more targeted, multimodal approaches. Future progress will depend on standardized protocols, regulatory clarity, and long-term clinical trials to define which regenerative approaches can reliably achieve sustainable follicle renewal in routine cosmetic dermatology practice. Full article

Background: Adult females with Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD) are frequently underdiagnosed due to gender bias, overlapping symptoms, and limited awareness among healthcare professionals. The scarcity of research on this subject—particularly in the UK context—underscores the need for further investigation. Accordingly, the aim of this study was to explore the lived experiences of adult females receiving a late diagnosis of ASD and/or ADHD and to identify key barriers within the UK diagnostic pathway. This study addresses a critical knowledge gap by examining the factors contributing to delayed diagnosis within the United Kingdom. Study Design and Method: The study employed a qualitative approach, utilising an anonymous online questionnaire survey comprising nine open-ended questions. Responses were obtained from 52 UK-based females aged 35–65 years who had either received or were awaiting a diagnosis of ASD and/or ADHD. Data were analysed thematically within a constructivist framework. Findings: The analysis revealed three overarching themes: (i) limited understanding and lack of empathy among healthcare professionals, (ii) insufficient post-diagnostic support, with most participants reporting no follow-up care, and (iii) a complex, protracted diagnostic process, often involving waiting periods exceeding three years. Gender bias and frequent misdiagnosis were recurrent issues, contributing to significant psychological distress. These findings underscore the need for systemic reforms and align closely with gaps identified in the existing literature. Conclusions: The findings emphasise the urgent need for gender-sensitive diagnostic frameworks, enhanced professional training, and a person-centred approach to care. Key recommendations include shortening diagnostic waiting times, strengthening healthcare professionals’ knowledge base, and ensuring equitable and consistent post-diagnostic support. Full article

Background/Objectives: Exercise-based interventions are strongly recommended for managing temporomandibular disorders (TMDs). However, conventional approaches have limited capacity to address symptoms associated with mandibular kinematic abnormalities and often lack sufficient logical clarity for reproducible clinical applications. Furthermore, although current diagnostic criteria and imaging modalities primarily assess static anatomical conditions, traditional three-dimensional motion analysis is difficult to implement in routine practice. This study aimed to evaluate the effectiveness of a personalized, exercise-based intervention optimized to patients’ lateral excursion (LE) characteristics using an artificial intelligence (AI)-assisted motion analysis system. Methods: An AI-based two-dimensional motion analysis platform was used to quantify maximum mouth opening (MMO) and LE in three patients with TMD. Individualized interventions—including massage, stretching, resistance exercises, coordination training, and breathing exercises—were provided over 3 weeks based on each patient’s clinical presentation and movement patterns identified through the kinematic analysis. Results: All three patients successfully completed the intervention. Average pain intensity declined across all cases. Mandibular function improved: the mean MMO increased by 38.92% on average, and LE decreased by −1.55 mm on average. Conclusions: This study demonstrates that a personalized, exercise-based intervention guided by AI-assisted mandibular kinematic analysis was associated with reductions in pain and improvements in dynamic mandibular function. This approach provides a logically clear and objective framework that may support physical therapy in TMD management, advancing beyond conventional static assessment methods. Full article

The global rise in childhood speech disorders highlights the need for accessible and engaging home-based rehabilitation tools. This study applied the Double Diamond design framework to enhance the user experience (UX) of Smart Speech, a gamified functional speech therapy program. Using heuristic evaluation, expert interviews, and benchmarking, six core UX problem areas were identified, including insufficient guidance, low personalized motivation, limited feedback, and accessibility issues. Through an iterative ideation process, 78 UX improvement concepts were generated, encompassing motivational reinforcement (e.g., praise stickers and character interaction), automated training guidance, enhanced feedback mechanisms, and error-prevention features. A usability evaluation with 20 participants, including speech-language pathologists (SLPs) and parents, showed significant improvements across key dimensions, with increases of 1.1 to 2.6 points on a 7-point scale. These findings demonstrate that systematic UX design can substantially improve engagement, usability, and the potential therapeutic utility of home-based speech therapy systems. Full article

Background/Objectives: Single-sided deafness (SSD) impairs speech perception, reduces spatial hearing, decreases quality of life, and is frequently accompanied by tinnitus. Cochlear implantation (CI) has become an established treatment option, but long-term prospective evidence across multiple functional and psychological domains remains limited. This study investigated auditory performance, subjective hearing outcomes, tinnitus burden, and psychological well-being over a two-year follow-up in a large SSD cohort. Methods: Seventy adults with SSD underwent unilateral CI. Assessments were conducted preoperatively and at 6 months, 1 year, and 2 years postoperatively. Outcome measures included the Freiburg Monosyllable Test (FS), Oldenburg Inventory (OI), Nijmegen Cochlear Implant Questionnaire (NCIQ), Tinnitus Questionnaire (TQ), Perceived Stress Questionnaire (PSQ), Generalized Anxiety Disorder scale (GAD-7), and General Depression Scale (ADS-L). Longitudinal changes were analyzed using Wilcoxon signed-rank tests with effect sizes; Holm-adjusted p-values were applied for baseline-to-follow-up comparisons. Results: Speech perception improved markedly within the first 6 months and remained stable through 2 years, with large effect sizes. All OI subdomains demonstrated early and sustained improvements in subjective hearing ability. Several hearing-related quality-of-life domains assessed by the NCIQ, particularly social interaction, self-esteem, and activity participation, showed medium-to-large long-term improvements. Tinnitus severity decreased substantially, with marked reductions observed by 6 months and maintained thereafter; the proportion of tinnitus-free patients increased at follow-up, although tinnitus symptoms persisted in a substantial subset of participants. Perceived stress was reduced initially at the early follow-up and remained below baseline thereafter. Anxiety and depressive symptoms mostly stayed within nonclinical ranges, showing no lasting changes after adjusting for multiple comparisons. Conclusions: In this prospective cohort, cochlear implantation was associated with durable improvements in auditory outcomes, tinnitus burden, and selected patient-reported quality-of-life domains over two years. Although significant functional and patient-centered improvements were noted, persistent tinnitus and diverse psychosocial outcomes underscore the need for personalized counseling and comprehensive follow-up that incorporate patient-reported outcomes and psychological assessments. Full article

Myeloid neoplasms (MNs) with germline predisposition represent a distinct, increasingly recognized category in the WHO classification, encompassing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) arising in the context of an inherited genetic alteration or mutation. While often presenting at a younger age or with characteristic cytopenias with or without organ dysfunction, some can manifest in adulthood, highlighting the need for vigilance regardless of age or family history. Key predisposing genes include transcription factors (e.g., RUNX1, CEBPA) and genes involved in RNA splicing and telomere biology disorders. Identification of these germline mutations is critical as MNs with germline predisposition dictate specific therapeutic strategies—particularly for hematopoietic stem cell transplantation (HSCT)—and require genetic counseling and surveillance for at-risk relatives. Accurate diagnosis often requires non-hematopoietic germline DNA testing, which provides important biological insights into the development of different myeloid neoplasms and directs personalized patient care. Full article

Background/Objectives: Schizophrenia (SCH) and bipolar disorder (BD) share overlapping symptoms and genetic factors, making differential diagnosis challenging and often leading to misdiagnosis. This study aimed to identify potential lipid biomarkers of serum capable of distinguishing BD from SCH. Methods: Lipid profiles of serum from 30 SCH and 31 BD patients were analyzed in triplicates using liquid chromatography–high-resolution mass spectrometry (LC-HRMS). Chemometric analysis was applied, including class and gender identifiers. Orthogonal partial least squares (OPLS) models with 1000 cross-validations were used to validate feature subsets. Results: The chemometric analysis included the most relevant metabolites in the comparison between all samples of SCH and BD patients, identifying five key biomarkers (LPC 16:0, SM 33:1, SM 32:1, compound C30H58O3, and PC 30:0) with VIP scores > 1 for distinguishing BD from SCH. Gender-specific models revealed five biomarkers in males (SM 32:1, SM 33:1, PC 32:1, PC 30:0, and FA 16:1) and two in females (LPC 16:0 and C30H58O3). These biomarkers primarily belonged to glycerophospholipids (GPs) and sphingophospholipids (SPs). Conclusions: Comparative lipid profiling between SCH and BD, including gender-specific subgroups, enabled identification of potential diagnosis-specific biomarkers. Elevated levels of GPs and SPs in SCH patients suggest lipid metabolism differences that may support improved diagnostic accuracy and personalized treatment strategies. Full article