Search Results (896)

Accurate variant classification is crucial for newborn screening (NBS) to prevent missed diagnoses or unnecessary interventions. The IDUA gene variant denoted as c.250G>A (p.Gly84Ser) has been identified in individuals with positive NBS for Mucopolysaccharidosis Type I (MPS I). This variant has conflicting pathogenicity reports including one publication classifying this variant as associated with a severe MPS I phenotype; therefore, we aim to clarify the clinical significance of this variant by presenting a case series describing three individuals, each homozygous for c.250G>A (p.Gly84Ser), identified in Michigan and California. All patients in this case series had low alpha-iduronidase (IDUA) enzyme activity with normal or mildly elevated glycosaminoglycans (GAGs) in blood or urine not falling into the range or pattern seen for affected individuals. None of these patients have developed clinical features of MPS I during follow-up ranging up to 3.5 years of age. Review of functional and population data supports a pseudodeficiency effect, resulting in no need for treatment. Based on our experience with three patients all homozygous for c.250G>A (p.Gly84Ser), despite causing low in vitro IDUA activity, homozygosity for the IDUA gene variant denoted as c.250G>A (p.Gly84Ser), does not cause symptoms of MPS I and may represent a pseudodeficiency allele. Caution should be exercised in newborns with this variant to help reduce unnecessary interventions and alleviate the psychosocial and economic consequences of false-positive NBS results, particularly for the South Asian population. Full article

Objectives: The present study aimed to examine the relationships between screen time (ST), sleep time (SLT), physical activity engagement (PA), Mediterranean diet (MD) adherence, body mass index (BMI), self-esteem (SE) and academic performance (AP) in high-socioeconomic-status (SES) school-aged youth in southern Spain. Methods: A descriptive, comparative, non-experimental and cross-sectional research study was conducted with a total sample of 217 Spanish students (13.88 ± 1.32). Structural equation modelling (SEM) was employed to analyse relationships between study variables as a function of sex. Results: SLT was positively associated with MD adherence and negatively related with BMI. Both PA and MD adherence were positively linked to SE, whilst MD adherence and SE were also positively related to AP. Regarding sex differences, ST was a stronger determinant among girls, showing negative associations with PA (β = −0.378; p < 0.001) and MD adherence (β = −0.315; p < 0.001), with this pattern not being observed in boys. PA was positively associated with SE in both sexes, but more strongly in boys (β = 0.332; p < 0.001) than in girls (β = 0.190; p = 0.034). In girls, both MD adherence (β = 0.295; p < 0.001) and SE (β = 0.224; p = 0.008) were positively associated with AP, with these associations not being found in boys. Conclusions: The findings underscore the complex interplay between lifestyle behaviours, psychosocial factors, and AP in school-aged youth. Regardless of SES, interventions should focus on reducing ST, promoting PA and MD adherence, and enhancing SE whilst considering sex-specific patterns. Full article

Background/Objectives: Chronic musculoskeletal pain (CMSKP) affects up to 40% of adolescents and leads to substantial disability, reduced quality of life, and long-term health risks. Physical activity is central to treatment, but adherence to moderate-to-vigorous physical activity (MVPA) is inconsistent. We evaluated higher-resilience constructs—self-efficacy, pain acceptance, motivational stage, and affect—and hypothesized that higher resilience would be associated with greater objectively measured physical activity, better daily functioning, and higher quality of life in adolescents with CMSKP. Methods: Forty-three adolescents (13–18 years) with CMSKP completed measures of physical activity-specific self-efficacy, acceptance (AFQ-Y), motivational stage (PSOCQ-A), and affect (PANAS-C). Participants wore activPAL monitors to assess MVPA, light activity, and sedentary time. Physical function endurance was measured by the six-minute walk test (6MWT) and the Functional Disability Inventory (FDI); quality of life by the Pediatric Quality of Life Inventory (PedsQL). Spearman’s correlations assessed associations among resilience variables, physical activity metrics, 6MWT distance, FDI, and PedsQL. Results: MVPA was correlated positively with 6MWT distance (ρ = 0.48, p = 0.002) and negatively with FDI scores (ρ = −0.56, p < 0.001). Self-efficacy related to higher MVPA (ρ = 0.41, p = 0.009), better endurance (ρ = 0.36, p = 0.017), and lower disability (ρ = −0.38, p = 0.013). Acceptance was correlated with PedsQL total (ρ = 0.45, p = 0.004); motivation (specifically maintenance) scores were correlated with higher quality of life (ρ = 0.33, p = 0.027). Light activity and sedentary time were not significantly linked to functional or psychosocial outcomes. In a step-wise regression, only physical activity self-efficacy for ambulation at school predicted MVPA, B = 1.56, p = 0.008. Conclusions: Resilience constructs—including self-efficacy, acceptance, and readiness to change—were meaningfully associated with MVPA, daily functioning, and quality of life, and may have implications for treatment development. Full article

Background: The GLA:D^® program is an evidence-based intervention widely used in Western countries to improve knee function and exercise adherence among individuals with osteoarthritis. However, its application in postoperative total knee arthroplasty (TKA) populations is limited, particularly in Asia. This study evaluated two modified GLA:D^® interventions tailored to the Korean clinical environment. Methods: Patients who underwent TKA participated in one of two programs. The GLA:D-M group received therapist-supervised neuromuscular training with structured progression. The GLA:D-C group received a modified GLA:D^® program with additional lower-limb strengthening, primarily conducted as home-based exercise. Outcomes at 3 and 6 months included functional performance, isokinetic strength, gait speed, and psychosocial measures. Statistical significance, minimal clinically important difference (MCID), and effect sizes were used to assess clinical relevance. Results: Both groups improved; however, recovery patterns differed. GLA:D-M demonstrated statistically significant (p < 0.05) and clinically meaningful improvements in functional and psychosocial outcomes, exceeding MCID thresholds with large effect sizes. GLA:D-C showed significant gains in lower-limb strength, but many changes did not meet the MCID and did not consistently translate into higher-level functional recovery. These findings suggest that supervised neuromuscular training may facilitate more comprehensive recovery than home-based strengthening alone. Conclusions: Adapting the GLA:D^® program for TKA patients in a Korean clinical setting was feasible and beneficial. Additionally, the delivery method, particularly therapist supervision, played a vital role in maximizing outcomes. Both program content and delivery format should be considered in rehabilitation models. Larger, long-term studies are warranted to confirm these findings and explore broader clinical applications. Full article

Background/Objectives: Psychiatric morbidity is frequent in oncology, yet prevalence and correlates differ across tumour sites. Urogenital cancers, in particular, involve psychosocial stressors related to sexuality, fertility, continence, and body image, which may intensify anxiety and depression. This study aimed to estimate the proportion of psychiatric morbidity among psychiatry-assessed oncology inpatients in a real-world hospital setting to compare urogenital with non-urogenital malignancies and to examine clinical correlates and hospitalisation outcomes. Methods: We conducted a retrospective analysis of 174 oncology inpatients who were evaluated by liaison psychiatry and completed the Hospital Anxiety and Depression Scale (HADS) during admission to a tertiary hospital in Galați, Romania, between 2019 and 2022. All patients completed the Hospital Anxiety and Depression Scale (HADS) and underwent liaison psychiatry evaluation. Mixed anxiety–depressive disorder (ICD-10 F41.2) was the primary psychiatric outcome. Demographic, clinical, and functional data—including Eastern Cooperative Oncology Group (ECOG) performance status—were extracted from medical records. Comparative and multivariable analyses were performed to identify predictors of severe depressive symptoms (primary outcome, HADS-D ≥ 11) and to explore associations with length of stay and costs. Results: Overall, 59% of patients had elevated HADS-Anxiety and 62% elevated HADS-Depression, while 40% received a psychiatric diagnosis. Mixed anxiety–depressive disorder predominated, especially in cervical (95%), bladder (100%), and prostate (≈70–75%) cancers. Urogenital cancers showed significantly higher rates of anxiety/depression than non-urogenital cancers (85% vs. 46%, p < 0.01). Poorer ECOG status independently predicted severe depressive symptoms (OR 3.6, 95% CI 2.1–6.2, p < 0.001). Psychiatric morbidity was associated with a trend toward longer LOS (median 12 vs. 9 days, p ≈ 0.08) and ≈10% higher hospital costs. Conclusions: Anxiety and depression were highly frequent among psychiatry-assessed oncology inpatients, particularly in urogenital malignancies. Functional impairment strongly correlates with psychiatric morbidity. These findings underscore the need for systematic screening and risk-stratified psycho-oncologic interventions to improve patient outcomes and resource utilisation. Full article

Background/Objectives: Head and neck cancers significantly affect patients’ functional and psychosocial well-being. Multidisciplinary tumor boards have a central role in optimizing treatment strategies, but the relationship between tumor characteristics, comorbidities, and quality of life (QoL) remains insufficiently explored. Methods: We conducted a retrospective study of 94 patients with head and neck cancers evaluated by the oncology committee of Coltea Clinical Hospital in 2024. QoL was assessed post-surgery using the EORTC QLQ-C30 and H&N35 questionnaires. Descriptive statistics, non-parametric tests, correlations, and multivariate regression analyses were performed to examine associations between clinical variables and QoL outcomes. Results: The cohort comprised 82 men (87.2%) and 12 women (12.8%), with a mean age of 61.5 ± 9.8 years. The most common tumor site was the larynx (43.6%). Global QoL was low (mean = 42.3, SD = 11.7), and fatigue scores were high (mean = 61.5, SD = 13.5). All EORTC domains showed non-normal distributions (Shapiro–Wilk, p < 0.05). Kruskal–Wallis analysis revealed significantly lower QoL scores in patients with metastatic adenopathy with aunknown primary (p = 0.03). Spearman’s correlation indicated a moderate negative association between Charlson Comorbidity Index and QoL (r = −0.38, p = 0.01). Multivariate regression confirmed comorbidities (β = −2.5, p = 0.02) and tumor type (metastatic adenopathy, β = −8.0, p = 0.04) as independent predictors of reduced QoL. Conclusions: Patients with advanced disease and higher comorbidity burden experience significantly poorer QoL after head and neck cancer surgery. Tumor board decisions facilitate individualized treatment planning; however, systematic integration of QoL metrics is essential to optimize both oncological and functional outcomes. Full article

Background: Despite repeated re-emergence of Sudan ebolavirus (SUDV), its long-term human toll remains under-characterised. We assessed multisystem clinical, biochemical, and psychosocial outcomes ~25 years after the 2000 Gulu outbreak. Methods: We conducted a cross-sectional evaluation of 45 survivors of laboratory-confirmed SUDV and 30 age- and gender-matched community controls from the same region. Symptoms were assessed as current at the study visit using a structured checklist; for each symptom present, we recorded severity and duration from onset to the visit date. Standardised clinical examinations, haematological and biochemical assessments, anxiety and depression screening, and structured interviews on social support and stigma were performed. Group comparisons were assessed with Wilcoxon rank-sum and χ²/Fisher’s exact tests; correlations were assessed with Spearman’s ρ. Findings: Core physiological indices (vital signs, BMI, blood pressure, and body temperature) and mental health were comparable between survivors and controls. Nevertheless, survivors reported ongoing symptoms, including joint pain and visual impairment each in 36% (16/45), fatigue in 18% (8/45), and neurological symptoms in 13% (6/45). Subclinical laboratory deviations centred on hepatic and platelet biology: elevated total bilirubin occurred in 14% of survivors versus 6.7% of controls; thrombocytopenia or platelet morphological abnormalities in 12% versus 3.3%; haemoglobin abnormalities in 6% versus 0%. Among survivors, albumin and mean platelet volume declined with age (both p ≤ 0.03). Psychological morbidity was low (normal anxiety 82% (37/45; and normal depression 80% (36/45). Yet a social paradox emerged, despite universal post-outbreak support, 98% (44/45) described enduring stigma. To minimise differential recall bias, symptom inventories were not collected from controls; consequently, between-group comparisons for symptom prevalence were not performed, and symptom inferences are restricted to survivors and framed descriptively. Interpretation: A quarter-century after infection, SUDV survivors show preserved systemic physiology but carry chronic musculoskeletal, sensory, and neurological sequelae, alongside a discrete subclinical profile implicating hepatic function and platelet biology. Psychological resilience coexists with near-universal, persistent stigma, indicating that material support did not achieve full psychosocial reintegration. Given the lack of virological and deep immune profiling, proposed pathogenetic mechanisms, such as antigen persistence or immune-mediated injury, remain speculative and hypotheses-generating only. These findings argue for survivor-centred long-term care, embedded with epidemic preparedness frameworks that integrate musculoskeletal rehabilitation, ophthalmic and neurological services with comprehensive mental health care, and sustained anti-stigma community engagement. This dissociation, including short-lived support alongside enduring stigma, indicates that humanitarian relief alone does not secure durable psychosocial reintegration and should be complemented by long-horizon, survivor-centred services and community engagement. Funding: This study was supported by the Coalition for Epidemic Preparedness Innovations (CEPI) under the Universal Protocol for Standardising Assays and Advancing Vaccine Immunogenicity Assessments for Emerging and Re-emerging Viral Threats, implemented through the Uganda Virus Research Institute (UVRI) as part of CEPI’s Centralised Laboratory Network (CLN). Full article

Parents with cognitive difficulties are consistently overrepresented in child welfare proceedings, yet such difficulties in themselves are poor predictors of parenting capacity. Research shows that many parents succeed when provided with tailored support, making identification crucial for understanding parental capacity and whether interventions are adapted to individual needs. In this study, cognitive difficulties are understood broadly, encompassing challenges with memory, learning, information processing, and executive functioning, whether linked to formal diagnoses or arising from psychosocial strain. Families in contact with child welfare services often present with multiple and overlapping concerns, such as poverty, trauma, or diffuse forms of neglect, which can obscure or mimic cognitive difficulties. While previous studies have documented prevalence and outcomes, little is known about how professionals identify such difficulties in everyday practice. This study addresses this gap through qualitative interviews with 15 professionals from the Norwegian Child Welfare Service, which were analyzed thematically using an inductive approach. The analysis identified three themes: identification shaped by definitions, identification through relational insights, and identification through patterns of response. Identification rarely followed formal or standardized procedures. Instead, it unfolded gradually through accumulated observations, relational engagement, and professional reflection. The findings highlight how the absence of systematic routines and the delays that result from trial-and-error approaches shape opportunities for adequate support and influence assessments of both parental capacity and the child’s situation. Full article

Background: Temporomandibular disorders (TMDs) exhibit a complex relationship with depression, anxiety disorders, and oral behaviors. This cross-sectional study aimed to assess the differences in oral behaviors among subgroups of TMD-related pain and patients with varying levels of anxiety and depression. Methods: A total of 120 patients diagnosed with TMD according to the Diagnostic Criteria for Temporomandibular Disorders (DC/TMD), completed the Oral Behavior Checklist (OBC), Visual Analog Scale (VAS), Patient Health Questionnaire-9 (PHQ-9), General Anxiety Disorder (GAD-7), Graded Chronic Pain Scale (GCPS), Patient Health Questionnaire-15 (PHQ-15), and Jaw Functional Limitation Scale-8 (JFLS-8). Associations were examined using Chi-square, Fisher’s exact, and Spearman’s correlation; logistic regression and multivariable linear regression were performed (p < 0.05). Results: In univariate analyses, several item-level OBs were more prevalent with higher anxiety, including nocturnal bruxism, sleep positions exerting jaw pressure, daytime grinding, and gum chewing (p = 0.007, 0.041, 0.011, and 0.014, respectively). A modest difference among pain subgroups was observed for sleep position (p = 0.044). In multivariable models, anxiety was independently associated only with nocturnal bruxism (OR = 2.95; 95% CI: 1.30–6.67; p = 0.010), whereas depression showed no independent associations. Pain intensity remained the sole predictor of total OBC scores (Coef = 1.829; 95% CI: 0.51–3.15; p = 0.007). No independent effects were detected for TMD subgroups. Conclusions: Psychosocial factors appeared related to OBs in univariate analyses, but these associations were explained by confounding influences. After adjustment, pain intensity and anxiety emerged as key determinants. These findings highlight the need for comprehensive TMD management integrating pain control with behavioral strategies. Full article

Stuttering, a complex and multifactorial speech disorder, has long presented an enigma regarding its etiology. While earlier approaches often emphasized psychosocial influences, historical clinical and speech-language strategies have considered multiple contributing factors. By integrating genomic, transcriptomic and phenomic evidence, the ongoing research illustrates how functional genomics can unravel the biological architecture of complex speech disorders. In particular, advances in omic technologies have unequivocally positioned genetics and underlying biological pathways at the forefront of stuttering research. I have experienced stuttering and lived with it since my early childhood. This perspective article presents findings from omic studies, highlighting relevant aspects such as gene discoveries, implicated cellular mechanisms, and the intricate genetic architecture of developmental stuttering. As a person who stutters, I offer an intimate perspective on how these scientific insights are not merely academic but profoundly impactful for the affected community. A multi-omic integration strategy, combining large-scale genetic discovery with deep phenotyping and functional validation, is advocated to accelerate understanding in this field. Additionally, a bibliometric analysis using an international database was conducted to map trends and identify directions in stuttering research within the omic context. Ultimately, these scientific endeavors hold the potential to inform not only personalized interventions but also critical policy and regulatory changes, enhancing accessibility, support, and the recognized rights of people who stutter. Full article

Acute stress impairs executive functions, and these higher-order cognitive processes are often positively associated with intelligence. Even though intelligence is generally stable over time, performance in an intelligence test can be influenced by a variety of factors, including psychological processes like motivation or attention. For instance, test anxiety has been shown to correlate with individual differences in intelligence test performance, and theoretical accounts exist for causality in both directions. However, the potential impact of acute stress before or during an intelligence test remains elusive. Here, in a research context, we investigated the effects of test anxiety and acute stress as well as their interaction on performance in the short version of the Intelligence Structure Test 2000 in its German version (I-S-T 2000 R). Forty male participants completed two sessions scheduled 28 days apart, with the order counterbalanced across participants. In both sessions, participants underwent either the socially evaluated cold-pressor test (SECPT) or a non-stressful control procedure, followed by administration of I-S-T 2000 R (parallelized versions on both days). The SECPT is a widely used laboratory paradigm that elicits a stress response through the combination of psychosocial and physical components. Trait test anxiety scores were obtained via the German Test Anxiety Inventory (TAI-G). Stress induction was successful as indicated by physiological and subjective markers, including salivary cortisol concentrations. We applied linear mixed models to investigate the effects of acute stress (elicited by our stress manipulation) and test anxiety on the intelligence quotient (IQ). The analysis revealed that neither factor had a significant effect, nor was there a significant interaction between them. Consistent with these findings, Bayesian analyses provided evidence supporting the absence of these effects. Notably, IQ scores increased significantly from the first to the second testing day. These results suggest that neither test anxiety nor stress is significantly impacting intelligence test performance. However, improvements due to repeated testing call for caution, both in scientific and clinical settings. Full article

Background: Adolescence is a vulnerable period for the onset of severe psychiatric conditions, such as psychotic spectrum disorders. Non-adherence to antipsychotics is a common problem in young people with these conditions and paves the way for relapse, rehospitalization, and functional impairment. Co-occurring substance use disorders (SUDs) further undermine adherence and worsen outcomes. Long-acting injectable antipsychotics (LAIs) improve adherence and outcomes in adults, but none are licensed for use in individuals under 18. This review seeks to distill the available evidence on LAIs’ use in adolescents, from efficacy to safety, and to outline clinical practice recommendations. Methods: A narrative review was conducted. The evidence was organized by drug class: risperidone, paliperidone, aripiprazole, and other antipsychotics (olanzapine, haloperidol, first-generation depots). Results: Evidence in adolescents remains sparse and heterogeneous. Risperidone LAI has shown improvements in symptom severity, functioning, and behavioral control in bipolar disorder and schizophrenia, though commonly associated with side effects. Paliperidone palmitate demonstrated benefit in first-episode schizophrenia and autism spectrum disorder with intellectual disability, reducing hospital use but carrying risks of EPS and hyperprolactinemia. Aripiprazole LAI showed functional gains, short-term tolerability, and encouraging acceptance in case reports. Other LAIs were used in highly resistant cases with some clinical benefit, though extrapyramidal adverse events were common. Conclusions: The current literature provides limited data, and no clinical guidelines exist for the use of LAI in adolescents. Nonetheless, off-label use is reported in selected cases in clinical practice. Best practice is to start with oral stabilization, then use the lowest effective LAI with psychosocial support and close monitoring. When SUD co-occurs, LAIs may also help mitigate risks related to misuse/diversion of oral medication, provided that care includes systematic SUD screening and early intervention. Prospective controlled studies are urgently needed to establish long-term efficacy and safety in this vulnerable population. Full article

Pectus excavatum (PE) is the most common deformity of the chest wall seen in children and adolescents. Besides its visible depression of the chest, this condition often causes functional impairments affecting the cardiovascular and respiratory systems, as well as postural issues. Additionally, the aesthetic aspect of the deformity can greatly impact the psychosocial well-being of those affected. This study aims to evaluate the effect of a tailored physiotherapy program on children and adolescents with PE, focusing on musculoskeletal, cardiopulmonary, postural, and balance measures. A total of 35 participants diagnosed with PE will be assessed using four complementary methods: myotonometry with MyotonPRO for the trapezius muscle involving all three fascicles and the pectoralis major muscle on both sides, cardiopulmonary exercise testing on a treadmill (including cardiopulmonary function), postural assessment with GaitOn, and static balance-stabilometry with PoData 2.0. These assessments will be performed before and three months after completing an individualized physiotherapy program, which participants will perform daily after proper instruction from a physical therapist. After three months, the initial and final results will be compared to determine how physical therapy influences treatment outcomes in patients with PE. Full article

Introduction: Acquired brain injury (ABI) produces significant cognitive, motor, and psychosocial impairments that affect people’s daily functioning. Rehabilitation programs increasingly combine physical activity with neuropsychological strategies for greater effectiveness. Purpose: The aim of this study was to analyze the effects of neurophysiotherapy based on physical activity and neuropsychological rehabilitation on cognitive and psychosocial functioning in individuals with an acquired brain injury (ABI). Method: A total of 19 individuals between the ages of 24 and 89 years (M ± SD: age = 59.26 ± 19.01) belonging to the Acquired Brain Injury Association of Málaga (ADACEMA) participated in this study. A quasi-experimental design with pre- and post-test measures and multiple experimental groups was used. The instruments used were the digit subtest of the Barcelona Test, the Five Digit Test (FDT), the Tower of Hanoi, the modified six-element subtest of the Behavioural Assessment of the Dysexecutive Syndrome, the Trail Making Test (TMT), the WHOQOL-BREF, and the Profile of Mood States (POMS) questionnaire. The Kruskal–Wallis H, Mann–Whitney U, and Wilcoxon tests were used to analyze the data. Results: The results obtained showed a positive effect of physical activity (PA) combined with neuropsychological rehabilitation on working memory, planning, emotional well-being, personal relationships, depressive symptoms, and overall quality of life. Conclusions: The findings suggest that combining neurophysiotherapeutic physical-activity-based rehabilitation with other neuropsychological interventions may be a promising approach to improving executive functioning, emotional well-being, and quality of life in people with an ABI. These preliminary results highlight the potential value of multidisciplinary programs in post-injury recovery, although further studies with larger and more homogeneous samples are needed to confirm these effects. Full article

Gender dysphoria stems from incongruence between gender identity and assigned sex, often causing significant distress related to breast anatomy in transmasculine individuals. Gender-affirming hormone therapy typically precedes mastectomy, which is a fundamental intervention in transgender healthcare. Surgical challenges arise in patients with large breasts on lean frames, requiring customized techniques to achieve a natural, proportional, androgynous chest. This case report describes a 23-year-old transmasculine patient with macromastia and a tall, lean build who underwent gender-affirming mastectomy with free nipple grafts and muscular sculpture aimed at an androgynous esthetic. Pre- and postoperative evaluations showed marked improvements in body image, physical strength performance, and emotional well-being. Psychological assessments revealed significant reductions in body uneasiness and gender dysphoria, while human figure drawings demonstrated increasing bodily integration and identity congruence. A general improvement in physical performance over time was reported, particularly in upper body strength, with minor fluctuations potentially related to the surgical intervention and recovery phase. The narrative literature review supports these outcomes, highlighting satisfaction rates above 90%, minimal regret, and consistent gains in psychosocial functioning and sexual and mental health, including reduced anxiety and depression. This evidence reinforces that gender-affirming mastectomy is medically necessary, particularly when tailored to individual anatomical and esthetic needs, affirming identity and alleviating distress. Full article