Mitochondrial dysfunction has emerged as a critical factor in the etiology of various neurodevelopmental disorders, including autism spectrum disorders, attention-deficit/hyperactivity disorder, and Rett syndrome. Alt...Mitochondrial dysfunction has emerged as a critical factor in the etiology of various neurodevelopmental disorders, including autism spectrum disorders, attention-deficit/hyperactivity disorder, and Rett syndrome. Although these conditions differ in clinical presentation, they share fundamental pathological features that may stem from abnormal mitochondrial dynamics and impaired autophagic clearance, which contribute to redox imbalance and oxidative stress in neurons. This review aimed to elucidate the relationship between mitochondrial dynamics dysfunction and neurodevelopmental disorders. Mitochondria are highly dynamic organelles that undergo continuous fusion and fission to meet the substantial energy demands of neural cells. Dysregulation of these processes, as observed in certain neurodevelopmental disorders, causes accumulation of damaged mitochondria, exacerbating oxidative damage and impairing neuronal function. The phosphatase and tensin homolog-induced putative kinase 1/E3 ubiquitin-protein ligase pathway is crucial for mitophagy, the process of selectively removing malfunctioning mitochondria. Mutations in genes encoding mitochondrial fusion proteins have been identified in autism spectrum disorders, linking disruptions in the fusion-fission equilibrium to neurodevelopmental impairments. Additionally, animal models of Rett syndrome have shown pronounced defects in mitophagy, reinforcing the notion that mitochondrial quality control is indispensable for neuronal health. Clinical studies have highlighted the importance of mitochondrial disturbances in neurodevelopmental disorders. In autism spectrum disorders, elevated oxidative stress markers and mitochondrial DNA deletions indicate compromised mitochondrial function. Attention-deficit/hyperactivity disorder has also been associated with cognitive deficits linked to mitochondrial dysfunction and oxidative stress. Moreover, induced pluripotent stem cell models derived from patients with Rett syndrome have shown impaired mitochondrial dynamics and heightened vulnerability to oxidative injury, suggesting the role of defective mitochondrial homeostasis in these disorders. From a translational standpoint, multiple therapeutic approaches targeting mitochondrial pathways show promise. Interventions aimed at preserving normal fusion-fission cycles or enhancing mitophagy can reduce oxidative damage by limiting the accumulation of defective mitochondria. Pharmacological modulation of mitochondrial permeability and upregulation of peroxisome proliferator-activated receptor gamma coactivator 1-alpha, an essential regulator of mitochondrial biogenesis, may also ameliorate cellular energy deficits. Identifying early biomarkers of mitochondrial impairment is crucial for precision medicine, since it can help clinicians tailor interventions to individual patient profiles and improve prognoses. Furthermore, integrating mitochondria-focused strategies with established therapies, such as antioxidants or behavioral interventions, may enhance treatment efficacy and yield better clinical outcomes. Leveraging these pathways could open avenues for regenerative strategies, given the influence of mitochondria on neuronal repair and plasticity. In conclusion, this review indicates mitochondrial homeostasis as a unifying therapeutic axis within neurodevelopmental pathophysiology. Disruptions in mitochondrial dynamics and autophagic clearance converge on oxidative stress, and researchers should prioritize validating these interventions in clinical settings to advance precision medicine and enhance outcomes for individuals affected by neurodevelopmental disorders.展开更多
Non-right-handedness(NRH),encompassing left-handedness and mixed-handedness,has been frequently reported at elevated rates in individuals with various psychiatric disorders.The consistency of this association across m...Non-right-handedness(NRH),encompassing left-handedness and mixed-handedness,has been frequently reported at elevated rates in individuals with various psychiatric disorders.The consistency of this association across multiple conditions and its underlying mechanisms is the subject of ongoing investigation.This review synthesized current evidence to explore the association between NRH and psychiatric disorders from epidemiological,genetic,and neurobiological perspectives.We systematically identified and appraised relevant literature investigating NRH prevalence in psychiatric populations and potential explanatory mechanisms.Epidemiological evidence indicates an elevated prevalence of NRH,particularly within neurodevelopmental disorders.Potential contributing mechanisms identified include early developmental disruptions,shared genetic predispositions,and atypical patterns of brain lateralization.While the association between NRH and psychiatric conditions,especially neurodevelopmental disorders,is evident,the causal pathways and relative contributions of identified mechanisms are complex and debated.This review highlighted key areas requiring further research to elucidate these relationships.展开更多
BACKGROUND Non-suicidal self-injury(NSSI)is common among adolescents with depressive disorders and poses a major public health challenge.Rumination,a key cognitive feature of depression,includes different subtypes tha...BACKGROUND Non-suicidal self-injury(NSSI)is common among adolescents with depressive disorders and poses a major public health challenge.Rumination,a key cognitive feature of depression,includes different subtypes that may relate to NSSI through distinct psychological mechanisms.However,how these subtypes interact with specific NSSI behaviors remains unclear.AIM To examine associations between rumination subtypes and specific NSSI behaviors in adolescents.METHODS We conducted a cross-sectional study with 305 hospitalized adolescents diagnosed with depressive disorders.The subjects ranged from 12-18 years in age.Rumi-nation subtypes were assessed using the Ruminative Response Scale,and 12 NSSI behaviors were evaluated using a validated questionnaire.Network analysis was applied to explore symptom-level associations and identify central symptoms.RESULTS The network analysis revealed close connections between rumination subtypes and NSSI behaviors.Brooding was linked to behaviors such as hitting objects and burning.Scratching emerged as the most influential NSSI symptom.Symptomfocused rumination served as a key bridge connecting rumination and NSSI.CONCLUSION Symptom-focused rumination and scratching were identified as potential intervention targets.These findings highlight the psychological significance of specific cognitive-behavioral links in adolescent depression and suggest directions for tailored prevention and treatment.However,the cross-sectional,single-site design limits causal inference and generalizability.Future longitudinal and multi-center studies are needed to confirm causal pathways and verify the generalizability of the findings to broader adolescent populations.展开更多
Musculoskeletal injuries are among the most common causes of disability worldwide,with early detection and appropriate intervention critical to minimizing long-term complications.Infrared thermography(IRT)has emerged ...Musculoskeletal injuries are among the most common causes of disability worldwide,with early detection and appropriate intervention critical to minimizing long-term complications.Infrared thermography(IRT)has emerged as a noninvasive,real-time imaging modality that captures superficial temperature changes reflecting underlying physiological processes such as inflammation and vascular alterations.This review explores the fundamental principles of medical thermography,differentiates between passive and active approaches,and outlines key technological advancements including artificial intelligence integration.The clinical utility of IRT is discussed in various contexts–ranging from acute soft tissue injuries and overuse syndromes to chronic pain and rehabilitation monitoring.Comparative insights with conventional imaging techniques such as ultrasound and magnetic resonance imaging are also presented.While IRT offers functional imaging capabilities with advantages in portability,safety,and speed,its limitations–such as lack of deep-tissue penetration and protocol standardization–remain significant barriers to broader adoption.Future directions include the integration of IRT with other imaging modalities and digital health platforms to enhance musculoskeletal assessment and injury prevention strategies.展开更多
Obesity is widely recognized as a global epidemic,primarily driven by an imbalance between energy expenditure and caloric intake associated with a sedentary lifestyle.Diets high in carbohydrates and saturated fats,par...Obesity is widely recognized as a global epidemic,primarily driven by an imbalance between energy expenditure and caloric intake associated with a sedentary lifestyle.Diets high in carbohydrates and saturated fats,particularly palmitic acid,are potent inducers of chronic low-grade inflammation,largely due to disruptions in glucose metabolism and the onset of insulin resistance(Qiu et al.,2022).While many organs are affected,the brain,specifically the hypothalamus,is among the first to exhibit inflammation in response to an unhealthy diet,suggesting that obesity may,in fact,be a brain-centered disease with neuroinflammation as a central factor(Thaler et al., 2012).展开更多
Cell function has a tight relationship with cell architecture.Distribution of proteins to the correct compartment is one of the functions of the traffic pathway through the Golgi apparatus.The others are to ensure pro...Cell function has a tight relationship with cell architecture.Distribution of proteins to the correct compartment is one of the functions of the traffic pathway through the Golgi apparatus.The others are to ensure proper protein folding,the addition of post-translational modifications,and delivering to intracellular and extracellular destinations.Astrocytes are fundamental homeostatic cells,controlling multiple aspects of the central nervous system physiology,such as ion balance,nutrients,blood flow,neurotransmitters,and responses to insults.Astrocytes are polarized cells,and,such as neurons,extensively use the secretory pathway for secreting factors and exposing functional receptors,channels,and transporters on the plasma membrane.In this review,we will underline the importance of studying the Golgi apparatus and the secretory pathway in astrocytes,based on the possible tight connection between the Golgi apparatus and astrocytes’homeostatic function.Given the topic of this review,we will provide examples mostly about the Golgi apparatus structure,function,localization,and its involvement in astrocytes’homeostatic response,with an insight into congenital glycosylation disorders,as an example of a potential future field in the study of astrocyte homeostatic failure and Golgi apparatus alteration.展开更多
BACKGROUND Timely and accurate evaluation of mental disorders in adolescents using appropriate mental health literacy assessment tools is essential for improving their mental health literacy levels.AIM To develop an e...BACKGROUND Timely and accurate evaluation of mental disorders in adolescents using appropriate mental health literacy assessment tools is essential for improving their mental health literacy levels.AIM To develop an evaluation index system for the mental health literacy of adolescent patients with mental disorders,providing a scientific,comprehensive,and reliable tool for the monitoring and intervention of mental health literacy of such patients.METHODS From December 2022 to June 2023,the evaluation index system for mental health literacy of adolescents with mental disorders was developed through literature reviews,semi-structured interviews,expert letter consultations,and the analytic hierarchy process.Based on this index system,a self-assessment questionnaire was compiled and administered to 305 adolescents with mental disorders to test the reliability and validity of the index system.RESULTS The final evaluation index system for mental health literacy of adolescents with mental disorders included 4 first-level indicators,10 second-level indicators,and 52 third-level indicators.The overall Cronbach’sαcoefficient of the index system was 0.957,with a partial reliability of 0.826 and a content validity index of 0.975.The cumulative variance contribution rate of 10 common factors was 66.491%.The correlation coefficients between each dimension and the total questionnaire ranged from 0.672 to 0.724,while the correlation coefficients in each dimension ranged from 0.389 to 0.705.CONCLUSION The evaluation index system for mental health literacy of adolescents with mental disorders,developed in this study,demonstrated notable reliability and validity,making it a valuable tool for evaluating mental health literacy in this population.展开更多
Neurodevelopmental processes represent a finely tuned interplay between genetic and environmental factors,shaping the dynamic landscape of the developing brain.A major component of the developing brain that enables th...Neurodevelopmental processes represent a finely tuned interplay between genetic and environmental factors,shaping the dynamic landscape of the developing brain.A major component of the developing brain that enables this dynamic is the white matter(WM),known to be affected in neurodevelopmental disorders(NDDs)(Rokach et al.,2024).WM formation is mediated by myelination,a multifactorial process driven by neuro-glia interactions dependent on proper neuronal functionality(Simons and Trajkovic,2006).Another key aspect of neurodevelopmental abnormalities involves neuronal dynamics and function,with recent advances significantly enhancing our understanding of both neuronal and glial mitochondrial function(Devine and Kittler,2018;Rojas-Charry et al.,2021).Energy homeostasis in neurons,attributed largely to mitochondrial function,is critical for proper functionality and interactions with oligodendrocytes(OLs),the cells forming myelin in the brain’s WM.We herein discuss the interplay between these processes and speculate on potential dysfunction in NDDs.展开更多
Functional gastrointestinal disorders(FGIDs),including irritable bowel syndrome(IBS),functional dyspepsia(FD),and gastroesophageal reflux disease(GERD),present persistent diagnostic and therapeutic challenges due to s...Functional gastrointestinal disorders(FGIDs),including irritable bowel syndrome(IBS),functional dyspepsia(FD),and gastroesophageal reflux disease(GERD),present persistent diagnostic and therapeutic challenges due to symptom heterogeneity and the absence of reliable biomarkers.Artificial intelligence(AI)enables the integration of multimodal data to enhance FGID management through precision diagnostics and preventive healthcare.This minireview summarizes recent advancements in AI applications for FGIDs,highlighting progress in diagnostic accuracy,subtype classification,personalized interventions,and preventive strategies inspired by the traditional Chinese medicine concept of“treating the undiseased”.Machine learning and deep learning algorithms have demonstrated value in improving IBS diagnosis,refining FD neuro-gastrointestinal subtyping,and screening for GERD-related complications.Moreover,AI supports dietary,psychological,and integrative medicine-based interventions to improve patient adherence and quality of life.Nonetheless,key challenges remain,including data heterogeneity,limited model interpretability,and the need for robust clinical validation.Future directions emphasize interdisciplinary collaboration,the development of multimodal and explainable AI models,and the creation of patientcentered platforms to facilitate a shift from reactive treatment to proactive prevention.This review provides a systematic framework to guide the clinical application and theoretical innovation of AI in FGIDs.展开更多
The inability to access brain tissue has greatly hindered our ability to study and care for individuals suffering from psychiatric and neurological conditions.Critics have questioned efforts to develop peripheral bloo...The inability to access brain tissue has greatly hindered our ability to study and care for individuals suffering from psychiatric and neurological conditions.Critics have questioned efforts to develop peripheral blood biomarkers in neurological and psychiatric disorders based on the assertion that disease pathology is limited to the brain.The discovery that all tissues,including the brain,release extracellular vesicles(Raposo and Stoorvogel,2013)and cell free DNAs(Chan et al.,2013)into various body fluids has provided a potential way to measure activity from inaccessible tissues like the central nervous system(CNS)and has given rise to the term“liquid biopsy.”The development of liquid biopsies that can diagnose and predict the course of psychiatric and neurological disorders would be transformative.The ability to predict episodic events such as mania,depression,and risk for suicide would be particularly useful for psychiatric care as it would enable the development of interventions that prevent mortality and improve outcomes.Additionally,biomarkers that are informative about drug response and aid in treatment decisions would be a significant advance in psychiatric care as it would prevent patients from having to endure multiple courses of ineffective treatments and side effects.展开更多
BACKGROUND Overweight children exhibit a higher prevalence of functional gastrointestinal disorders compared with their normal-weight peers,yet the underlying reasons remain unclear.Gastrointestinal motility,a key pat...BACKGROUND Overweight children exhibit a higher prevalence of functional gastrointestinal disorders compared with their normal-weight peers,yet the underlying reasons remain unclear.Gastrointestinal motility,a key pathophysiological factor in functional gastrointestinal disorders,may be influenced by body mass index(BMI).AIM To evaluate the impact of BMI on gastric motility parameters in children with functional abdominal pain disorders(FAPDs).METHODS We assessed gastric motility in 176 children with FAPDs(61.4%females,mean age 7.94 years,SD 1.96 years)and 63 healthy controls(57.1%females,mean age 9.17 years,SD 1.90 years)at the Gastroenterology Research Laboratory,University of Kelaniya,Sri Lanka.FAPDs were diagnosed and subtyped using the Rome IV criteria:Functional abdominal pain 97 patients;irritable bowel syndrome 39 patients,functional dyspepsia(FD)25 patients;and abdominal migraine 15 patients.Gastric motility was measured using a validated ultrasound method.Weight and height were measured using sensitive standard scales.RESULTS The BMIs of children with FAPDs and controls were 15.04 and 15.46 kg/m^(2),respectively(P=0.33).Fasting antral area(FAA)and antral area at 1 min(AA1)and 15 min(AA15)were significantly greater in patients with FAPD with a higher BMI(2.71 cm^(2),12.57 cm^(2),and 7.19 cm^(2),respectively)compared with those with a lower BMI(2.12 cm^(2),10.68 cm^(2),and 6.13 cm^(2),respectively)(P<0.01).BMI positively correlated with FAA and AA15(r=0.18 and r=0.19,respectively)(P<0.01)in those with FAPDs.In controls,only AA1 was greater in the higher BMI group(12.51 cm^(2)vs 9.93 cm^(2))and had a positive correlation(r=0.33)(P≤0.01).Subgroup analysis revealed that in patients with FD,BMI negatively correlated with gastric emptying rate(GER)(r=-0.59)and antral motility index(MI)(r=-0.49),while in functional abdominal pain,MI positively correlated(r=0.25)with BMI(P≤0.01).CONCLUSION In children with FAPDs,higher BMI was associated with increased gastric antral distention during fasting and postprandial periods(as indicated by FAA,AA1,and AA15)but not with contractility and transit(MI,GER).However,in the FD subgroup,high BMI correlated with reduced GER and MI.This indicates the possible role of BMI in gastric hypomotility and the pathophysiology of FD.These findings underscore the importance of lifestyle and dietary interventions aimed at optimizing BMI in the management of FAPDs,particularly FD.展开更多
BACKGROUND Disorders of gut-brain interaction(DGBI)are common,but knowledge about their physiopathology is still poor,nor valid tools have been used to evaluate them in childhood.AIM To develop a psycho-gastroenterolo...BACKGROUND Disorders of gut-brain interaction(DGBI)are common,but knowledge about their physiopathology is still poor,nor valid tools have been used to evaluate them in childhood.AIM To develop a psycho-gastroenterological questionnaire(PGQ)to assess the psycho-gastroenterological profile and social characteristics of a pediatric population with and without DGBI.METHODS One hundred and nineteen Italian children(age 11-18)were included:28 outpatient patients with DGBI(Rome IV criteria)and 91 healthy controls.They filled the PGQ,faces pain scale revised(FPS-R),Bristol stool chart,ga-strointestinal symptoms rating scale,state-trait anxiety inventory,Toronto alexithymia scale 20,perceived self-efficacy in the management of negative emotions and expression of positive emotions(APEN-G,APEP-G),irritable bowel syndrome-quality of life questionnaire,school performances,tobacco use,early life events,degree of digital-ization.RESULTS Compared to controls,patients had more medical examinations(35%of them went to the doctor more than five times),a higher school performance(23%vs 13%,P<0.05),didn’t use tobacco(never vs 16%,P<0.05),had early life events(28%vs 1%P<0.05)and a higher percentage of pain classified as 4 in the FPS-R during the examination(14%vs 7%,P<0.05).CONCLUSION Pediatric outpatients with DGBI had a higher prevalence of early life events,a lower quality of life,more medical examinations rising health care costs,lower anxiety levels.展开更多
Chat Generative Pre-trained Transformer(ChatGPT)is a conversational service that uses artificial intelligence and is also known as a chatbot.ChatGPT and similar applications have the potential to be a tool that can be...Chat Generative Pre-trained Transformer(ChatGPT)is a conversational service that uses artificial intelligence and is also known as a chatbot.ChatGPT and similar applications have the potential to be a tool that can be used in the field of psychiatry.Eating disorders affect a large number of individuals worldwide.Tools that encourage and support people with eating disorders to seek mental health services may be critical to helping them get the care they need.However,body image,defined as the totality of a person's thoughts and perceptions about their physical appearance,has been linked to a variety of health problems,particularly among young adults,about eating disorders.There is limited literature on how chatbots respond to or provide information about body image.Preventing eating disorders before they occur is also of great importance.However,young adults who struggle with body image perception may be misled by the information produced by ChatGPT.Studies have yet to clarify whether a chatbot can improve eating disorder-related factors,eating disorder psychopathology,depression,and anxiety or detect eating disorders in advance.This study focuses on the accuracy of ChatGPT in providing information regarding eating disorders and its potential effects on body image perception.展开更多
Background Mental disorders rank among the leading contributors to the global disease burden, with depressive disorders being among the most prevalent.Aims The objective of this study is to examine the prevalence, inc...Background Mental disorders rank among the leading contributors to the global disease burden, with depressive disorders being among the most prevalent.Aims The objective of this study is to examine the prevalence, incidence and years lived with disability (YLDs) associated with depressive disorders, particularly major depressive disorder and dysthymia, in Iran from 1990 to 2021. To achieve this, the research focused on analysing these metrics across various dimensions, including temporal trends, sex differences, age categories and subnational regions.Methods The data used in this study are sourced directly from the Institute for Health Metrics and Evaluation, ensuring that the information is both authoritative and reliable. All-age count estimates and age-standardised rates (per 100 000) were calculated for prevalence, incidence and YLDs. The disease burden indicators were analysed for the period spanning from 1990 to 2021, stratified by sex, age and location. The percentage change between 1990 and 2021 was also documented. The 95% uncertainty interval (UI) was reported for each of the reported estimates.Results The prevalence of depressive disorders in Iran demonstrated a notable upward trend from 1990 to 2021, with the rate of growth being particularly pronounced within the country. The age-standardised prevalence rate per 100 000 individuals for depressive disorders in Iran was 5609 (95% UI 4810 to 6488). By 2021, the number of depression cases in Iran reached 5.2 million, which is approximately 2.37 times the figure reported in 1990. The prevalence of depressive disorders was notably higher among females compared with males. The age-standardised prevalence rate per 100 000 individuals for males was 4184 (95% UI 3545 to 4929). For females, this figure was significantly greater, reaching 7077 (95% UI 6115 to 8172). Out of the total reported cases of depressive disorders in Iran, 3.2 million were observed in females, while males accounted for 2 million cases.Conclusions The findings highlighted the considerable impact of depressive disorders in Iran, both nationally and regionally, while also revealing variations across sex and age groups. Given the shifts in the demographic structure and the growing burden of these disorders, it is essential to prioritise screening initiatives, education programmes and strategies aimed at enhancing mental health awareness and ensuring improved access to mental health services in health policy planning.展开更多
Mental health disorders have emerged as a critical global health challenge,profoundly impacting individuals,communities,and societies worldwide.The prevalence of mental health problems has been steadily increasing,wit...Mental health disorders have emerged as a critical global health challenge,profoundly impacting individuals,communities,and societies worldwide.The prevalence of mental health problems has been steadily increasing,with~1 in 8 people,equivalent to 970 million individuals suffering from a mental disorder in 2019(https://vizhub.healthdata.org/gbd-results).Anxiety and depressive disorders are predominant,contributing significantly to the burden of mental health issues,according to the World Health Organization.The COVID-19 pandemic has further exacerbated this situation.It led to a notable upsurge in anxiety and major depressive disorders in 2020.Estimates indicate a 26%rise in anxiety and a 28%increase in depression within that year(https://www.who.int/publications/i/item/WHO-2019-nCoVSci_Brief-Mental_health-2022.1)[1].展开更多
BACKGROUND Autism spectrum disorders(ASD)represent a substantial social problem affecting at least 1 in 100 children worldwide.These conditions are very often accompanied by intellectual disability(ID)and speech delay...BACKGROUND Autism spectrum disorders(ASD)represent a substantial social problem affecting at least 1 in 100 children worldwide.These conditions are very often accompanied by intellectual disability(ID)and speech delay;thus,they can be considered within a clinical continuum of neurodevelopmental disorders.Given the high heterogeneity of ASD,the subjective nature of diagnostic criteria,and the presence of phenocopies,identifying genetic determinants of these disorders remains a challenge.AIM To investigate the spectrum and frequency of rare genetic variants in genes with proven association with ASD in Russian children.METHODS 110 patients from 106 families were recruited into the study mean age at diagnosis 6 years;boy-to-girl ratio 3:1.Most of the patients(84%)demonstrated a combination of ASD with developmental delay(DD)or ID.Patients with syndromic features were subjected to the chromosomal microarray analysis.The remained children underwent clinical exome sequencing aimed at identifying presumably monogenic causes of ASD.The study focused on rare(minor allele frequency≤0.001)variants affecting high-confidence ASD-associated genes.RESULTS Pathogenic copy number variations were detected in three(7%)of the patients examined.Clinical exome sequencing revealed pathogenic/likely pathogenic variants in 12 of 105 cases(11%),indicating the presence of monogenic syndromes with established clinical significance(Pitt-Hopkins syndrome,ZTTK syndrome,syndromic X-linked ID of Billuart type,Snijders-Blok-Campeau,Helsmoortel-van der Aa,Coffin-Siris,Clark-Baraitser,Keefstra syndromes,etc.).In addition,27 patients(26%)had 37 rare variants of unknown clinical significance in DSCAM,SHANK2,AUTS2,ADNP,ANKRD11,APBA2,ARID1B,ASTN2,ATRX,SCN1A,CHD2,DEAF1,EHMT1,GRIN2B,NBEA,NR4A2,TRIO,TRIP12,POGZ,EP300,FOXP1,PCDH19,GRIN2A,NCKAP1,and CHD8 genes.No specific variant was detected more than once in unrelated patients.Among the genes with rare variants found in 2 or more patients were TRIP12(n=4),AUTS2(n=3),ARID1B(n=3),PCDH19(n=3),EP300(n=3),TRIO(n=2),ASTN2(n=2),EHMT1(n=2),and CHD2(n=2).Of note,5 male ASD/DD patients from 3 unrelated families had PCDH19 missense variants,confirming that at least some hemizygous males with non-mosaic PCDH19 variants may present with neurobehavioral abnormalities.These variants did not cause epilepsy restricted to females in patients’mothers or sisters.CONCLUSION These data confirm a tremendous diversity of genetic causes of ASD.Clinical exome sequencing may serve as a reasonable alternative to whole-exome sequencing.展开更多
The global aging crisis has increased the prevalence of skeletal disorders,necessitating innovative therapeutic strategies.This review employs the brain-bone axis(BBA)framework to examine the role of the sympathetic n...The global aging crisis has increased the prevalence of skeletal disorders,necessitating innovative therapeutic strategies.This review employs the brain-bone axis(BBA)framework to examine the role of the sympathetic nervous system(SNS)in bone metabolism.The research systematically elucidates the molecular mechanisms by which the SNS mediates signaling pathways through neurofibers and neurotransmitters,such as norepinephrine,dopamine,neuropeptide Y,and leptin,regulating interactions between bone-related cells to maintain skeletal homeostasis.It also identifies the pathological associations between the dysregulation of these pathways and the progression of bone-related conditions,such as osteoporosis,osteoarthritis,and intervertebral disc degeneration.By integrating current evidence,we identify novel therapeutic targets within the BBA and propose neuro-centric intervention strategies to mitigate skeletal diseases.This review deepens the understanding of neuro-skeletal interactions and lays a foundation for innovative treatments for bone-related pathologies.展开更多
Dentistry is a profession with a high prevalence of work-related musculoskeletal disorders(WMSDs),with symptoms often appearing very early in one’s career[1].WMSDs are conditions affecting the muscles,bones,and nervo...Dentistry is a profession with a high prevalence of work-related musculoskeletal disorders(WMSDs),with symptoms often appearing very early in one’s career[1].WMSDs are conditions affecting the muscles,bones,and nervous system due to occupational factors.In 2002,the International Labor Organization included musculoskeletal diseases in the International List of Occupational Diseases.China’s recently updated Classification and Catalog of Occupational Diseases has introduced two new categories of occupational illnesses,including occupational musculoskeletal disorders.WMSDs significantly impact the health and work of dentists,reducing their quality of life and causing economic losses.These disorders are multifactorial in nature,influenced by personal,psychosocial,biomechanical,and environmental factors.Dentists frequently maintain static or awkward postures during procedures,which leads to musculoskeletal strain and discomfort;additionally,long working hours contribute to psychological stress,further increasing the risk of WMSDs[2].展开更多
BACKGROUND Functional abdominal pain disorders(FAPDs)are common gut–brain interaction disorders with unclear pathophysiology.While impaired gastrointestinal motility is thought to play a key role,small intestinal dys...BACKGROUND Functional abdominal pain disorders(FAPDs)are common gut–brain interaction disorders with unclear pathophysiology.While impaired gastrointestinal motility is thought to play a key role,small intestinal dysmotility remains largely unexplored.Orocecal transit time(OCTT),an indirect indicator of small intestinal transit,offers an insight into its potential contribution to FAPD's pathophysiology.AIM To assess OCTT in children with FAPDs compared with healthy children using the lactulose breath hydrogen test.METHODS Thirty-four children(44.1%males,age 5–12 years,mean 7.2±2.4 years)with FAPDs attending North Colombo Teaching Hospital,Ragama,Sri Lanka,were included in the analysis.FAPDs were diagnosed using the Rome IV criteria.None had clinical or laboratory evidence of organic diseases.They were compared with 19 healthy controls(47.1%males,age 5-12 years,mean 7.8±2.7 years)from the same geographical area.OCTT was calculated after an 8-hour fast using a previously validated technique.Breath hydrogen levels were measured at baseline and 15-minute intervals for 180 minutes post-lactulose ingestion(10 g in 10%solution).At each time point,3 breath samples were collected and analyzed.OCTT was quantified as the time taken to achieve a sustained breath hydrogen increase>10 parts per million above baseline.Symptoms were recorded using the Rome IV questionnaire,and symptom severity was graded on a 0-4 Likert scale.RESULTS Patients with FAPDs had increased OCTT(median,90 minutes;interquartile range,75-120 minutes)compared to controls(median,75 minutes;interquartile range,60-75 minutes)(P=0.0045,Mann-Whitney U-test).Children with functional dyspepsia had the longest mean OCTT(110.8±26.7 minutes).There was no significant correlation between abdominal pain severity and OCTT(r=0.18,P=0.35,Spearman correlation coefficient).OCTT did not differ between those exposed to stressful events and those not exposed to such events(P>0.05).CONCLUSION Children with FAPDs have longer OCTT than healthy controls.However,the lack of a significant correlation between OCTT and symptom severity suggests that delayed small intestinal transit alone is not a substantial contributor to FAPD pathophysiology.展开更多
Introduction: Genital prolapse is a health problem that gynaecologists are increasingly facing due to patients’ legitimate demands for care and the improvement in life expectancy without associated disabilities. The ...Introduction: Genital prolapse is a health problem that gynaecologists are increasingly facing due to patients’ legitimate demands for care and the improvement in life expectancy without associated disabilities. The objective of this work was to evaluate the clinical aspects and functional disorders of patients with genital prolapse in Butembo in Democratic Republic of the Congo (DRC). Material and Methods: A descriptive study with analytical aims was conducted from January 1 to September 30, 2024 in Butembo/DRC. It involved 112 patients with symptomatic genital prolapse in whom an interview on functional disorders as well as clinical assessment according to the Baden and Walker classification were carried out. The data were entered into Microsoft Office LTSC 2021 Excel software and analysed using R software version 4.4.0. Results: Patients aged over 50 years were exposed to developing genital prolapse especially the mixed type (81.1%) compared to those aged under 50 years (p-value 0.014). Multi and large multiparous women had developed all types of prolapse especially the mixed type (100%) compared to primiparous and pauciparous women (p-value 0.027). Associated pathologies were more observed in case of mixed prolapse (51.4%) including vesicovaginal fistula (37.8%) (p-value Conclusion: Genital prolapse is common and functional urinary, sexual and anorectal signs are frequently observed in patients in Butembo/DRC.展开更多
文摘Mitochondrial dysfunction has emerged as a critical factor in the etiology of various neurodevelopmental disorders, including autism spectrum disorders, attention-deficit/hyperactivity disorder, and Rett syndrome. Although these conditions differ in clinical presentation, they share fundamental pathological features that may stem from abnormal mitochondrial dynamics and impaired autophagic clearance, which contribute to redox imbalance and oxidative stress in neurons. This review aimed to elucidate the relationship between mitochondrial dynamics dysfunction and neurodevelopmental disorders. Mitochondria are highly dynamic organelles that undergo continuous fusion and fission to meet the substantial energy demands of neural cells. Dysregulation of these processes, as observed in certain neurodevelopmental disorders, causes accumulation of damaged mitochondria, exacerbating oxidative damage and impairing neuronal function. The phosphatase and tensin homolog-induced putative kinase 1/E3 ubiquitin-protein ligase pathway is crucial for mitophagy, the process of selectively removing malfunctioning mitochondria. Mutations in genes encoding mitochondrial fusion proteins have been identified in autism spectrum disorders, linking disruptions in the fusion-fission equilibrium to neurodevelopmental impairments. Additionally, animal models of Rett syndrome have shown pronounced defects in mitophagy, reinforcing the notion that mitochondrial quality control is indispensable for neuronal health. Clinical studies have highlighted the importance of mitochondrial disturbances in neurodevelopmental disorders. In autism spectrum disorders, elevated oxidative stress markers and mitochondrial DNA deletions indicate compromised mitochondrial function. Attention-deficit/hyperactivity disorder has also been associated with cognitive deficits linked to mitochondrial dysfunction and oxidative stress. Moreover, induced pluripotent stem cell models derived from patients with Rett syndrome have shown impaired mitochondrial dynamics and heightened vulnerability to oxidative injury, suggesting the role of defective mitochondrial homeostasis in these disorders. From a translational standpoint, multiple therapeutic approaches targeting mitochondrial pathways show promise. Interventions aimed at preserving normal fusion-fission cycles or enhancing mitophagy can reduce oxidative damage by limiting the accumulation of defective mitochondria. Pharmacological modulation of mitochondrial permeability and upregulation of peroxisome proliferator-activated receptor gamma coactivator 1-alpha, an essential regulator of mitochondrial biogenesis, may also ameliorate cellular energy deficits. Identifying early biomarkers of mitochondrial impairment is crucial for precision medicine, since it can help clinicians tailor interventions to individual patient profiles and improve prognoses. Furthermore, integrating mitochondria-focused strategies with established therapies, such as antioxidants or behavioral interventions, may enhance treatment efficacy and yield better clinical outcomes. Leveraging these pathways could open avenues for regenerative strategies, given the influence of mitochondria on neuronal repair and plasticity. In conclusion, this review indicates mitochondrial homeostasis as a unifying therapeutic axis within neurodevelopmental pathophysiology. Disruptions in mitochondrial dynamics and autophagic clearance converge on oxidative stress, and researchers should prioritize validating these interventions in clinical settings to advance precision medicine and enhance outcomes for individuals affected by neurodevelopmental disorders.
文摘Non-right-handedness(NRH),encompassing left-handedness and mixed-handedness,has been frequently reported at elevated rates in individuals with various psychiatric disorders.The consistency of this association across multiple conditions and its underlying mechanisms is the subject of ongoing investigation.This review synthesized current evidence to explore the association between NRH and psychiatric disorders from epidemiological,genetic,and neurobiological perspectives.We systematically identified and appraised relevant literature investigating NRH prevalence in psychiatric populations and potential explanatory mechanisms.Epidemiological evidence indicates an elevated prevalence of NRH,particularly within neurodevelopmental disorders.Potential contributing mechanisms identified include early developmental disruptions,shared genetic predispositions,and atypical patterns of brain lateralization.While the association between NRH and psychiatric conditions,especially neurodevelopmental disorders,is evident,the causal pathways and relative contributions of identified mechanisms are complex and debated.This review highlighted key areas requiring further research to elucidate these relationships.
基金Supported by Key Research and Development Program of Shaanxi Province,China,No.2024SF-YBXM-078.
文摘BACKGROUND Non-suicidal self-injury(NSSI)is common among adolescents with depressive disorders and poses a major public health challenge.Rumination,a key cognitive feature of depression,includes different subtypes that may relate to NSSI through distinct psychological mechanisms.However,how these subtypes interact with specific NSSI behaviors remains unclear.AIM To examine associations between rumination subtypes and specific NSSI behaviors in adolescents.METHODS We conducted a cross-sectional study with 305 hospitalized adolescents diagnosed with depressive disorders.The subjects ranged from 12-18 years in age.Rumi-nation subtypes were assessed using the Ruminative Response Scale,and 12 NSSI behaviors were evaluated using a validated questionnaire.Network analysis was applied to explore symptom-level associations and identify central symptoms.RESULTS The network analysis revealed close connections between rumination subtypes and NSSI behaviors.Brooding was linked to behaviors such as hitting objects and burning.Scratching emerged as the most influential NSSI symptom.Symptomfocused rumination served as a key bridge connecting rumination and NSSI.CONCLUSION Symptom-focused rumination and scratching were identified as potential intervention targets.These findings highlight the psychological significance of specific cognitive-behavioral links in adolescent depression and suggest directions for tailored prevention and treatment.However,the cross-sectional,single-site design limits causal inference and generalizability.Future longitudinal and multi-center studies are needed to confirm causal pathways and verify the generalizability of the findings to broader adolescent populations.
文摘Musculoskeletal injuries are among the most common causes of disability worldwide,with early detection and appropriate intervention critical to minimizing long-term complications.Infrared thermography(IRT)has emerged as a noninvasive,real-time imaging modality that captures superficial temperature changes reflecting underlying physiological processes such as inflammation and vascular alterations.This review explores the fundamental principles of medical thermography,differentiates between passive and active approaches,and outlines key technological advancements including artificial intelligence integration.The clinical utility of IRT is discussed in various contexts–ranging from acute soft tissue injuries and overuse syndromes to chronic pain and rehabilitation monitoring.Comparative insights with conventional imaging techniques such as ultrasound and magnetic resonance imaging are also presented.While IRT offers functional imaging capabilities with advantages in portability,safety,and speed,its limitations–such as lack of deep-tissue penetration and protocol standardization–remain significant barriers to broader adoption.Future directions include the integration of IRT with other imaging modalities and digital health platforms to enhance musculoskeletal assessment and injury prevention strategies.
文摘Obesity is widely recognized as a global epidemic,primarily driven by an imbalance between energy expenditure and caloric intake associated with a sedentary lifestyle.Diets high in carbohydrates and saturated fats,particularly palmitic acid,are potent inducers of chronic low-grade inflammation,largely due to disruptions in glucose metabolism and the onset of insulin resistance(Qiu et al.,2022).While many organs are affected,the brain,specifically the hypothalamus,is among the first to exhibit inflammation in response to an unhealthy diet,suggesting that obesity may,in fact,be a brain-centered disease with neuroinflammation as a central factor(Thaler et al., 2012).
文摘Cell function has a tight relationship with cell architecture.Distribution of proteins to the correct compartment is one of the functions of the traffic pathway through the Golgi apparatus.The others are to ensure proper protein folding,the addition of post-translational modifications,and delivering to intracellular and extracellular destinations.Astrocytes are fundamental homeostatic cells,controlling multiple aspects of the central nervous system physiology,such as ion balance,nutrients,blood flow,neurotransmitters,and responses to insults.Astrocytes are polarized cells,and,such as neurons,extensively use the secretory pathway for secreting factors and exposing functional receptors,channels,and transporters on the plasma membrane.In this review,we will underline the importance of studying the Golgi apparatus and the secretory pathway in astrocytes,based on the possible tight connection between the Golgi apparatus and astrocytes’homeostatic function.Given the topic of this review,we will provide examples mostly about the Golgi apparatus structure,function,localization,and its involvement in astrocytes’homeostatic response,with an insight into congenital glycosylation disorders,as an example of a potential future field in the study of astrocyte homeostatic failure and Golgi apparatus alteration.
基金Supported by Inter Disciplinary Direction Cultivation Project of Hunan University of Chinese Medicine,No.2025JC01032025 Hunan Province Science and Technology Innovation Plan Project,No.2025RC9012+2 种基金2022"Unveiling and Leading"Project of Discipline Construction at Hunan University of Chinese Medicine,No.22JBZ044Changsha Municipal Natural Science Foundation,No.kq2402174Hunan Provincial Science Popularization Fund Project,No.2025ZK4223.
文摘BACKGROUND Timely and accurate evaluation of mental disorders in adolescents using appropriate mental health literacy assessment tools is essential for improving their mental health literacy levels.AIM To develop an evaluation index system for the mental health literacy of adolescent patients with mental disorders,providing a scientific,comprehensive,and reliable tool for the monitoring and intervention of mental health literacy of such patients.METHODS From December 2022 to June 2023,the evaluation index system for mental health literacy of adolescents with mental disorders was developed through literature reviews,semi-structured interviews,expert letter consultations,and the analytic hierarchy process.Based on this index system,a self-assessment questionnaire was compiled and administered to 305 adolescents with mental disorders to test the reliability and validity of the index system.RESULTS The final evaluation index system for mental health literacy of adolescents with mental disorders included 4 first-level indicators,10 second-level indicators,and 52 third-level indicators.The overall Cronbach’sαcoefficient of the index system was 0.957,with a partial reliability of 0.826 and a content validity index of 0.975.The cumulative variance contribution rate of 10 common factors was 66.491%.The correlation coefficients between each dimension and the total questionnaire ranged from 0.672 to 0.724,while the correlation coefficients in each dimension ranged from 0.389 to 0.705.CONCLUSION The evaluation index system for mental health literacy of adolescents with mental disorders,developed in this study,demonstrated notable reliability and validity,making it a valuable tool for evaluating mental health literacy in this population.
文摘Neurodevelopmental processes represent a finely tuned interplay between genetic and environmental factors,shaping the dynamic landscape of the developing brain.A major component of the developing brain that enables this dynamic is the white matter(WM),known to be affected in neurodevelopmental disorders(NDDs)(Rokach et al.,2024).WM formation is mediated by myelination,a multifactorial process driven by neuro-glia interactions dependent on proper neuronal functionality(Simons and Trajkovic,2006).Another key aspect of neurodevelopmental abnormalities involves neuronal dynamics and function,with recent advances significantly enhancing our understanding of both neuronal and glial mitochondrial function(Devine and Kittler,2018;Rojas-Charry et al.,2021).Energy homeostasis in neurons,attributed largely to mitochondrial function,is critical for proper functionality and interactions with oligodendrocytes(OLs),the cells forming myelin in the brain’s WM.We herein discuss the interplay between these processes and speculate on potential dysfunction in NDDs.
基金Supported by The Natural Science Foundation of China,No.82374292the Plans for Major Provincial Science and Technology Projects of Anhui Province,No.202303a07020003the Innovation Team and Talents Cultivation Program of the National Administration of Traditional Chinese Medicine,No.ZYYCXTD-C-202401.
文摘Functional gastrointestinal disorders(FGIDs),including irritable bowel syndrome(IBS),functional dyspepsia(FD),and gastroesophageal reflux disease(GERD),present persistent diagnostic and therapeutic challenges due to symptom heterogeneity and the absence of reliable biomarkers.Artificial intelligence(AI)enables the integration of multimodal data to enhance FGID management through precision diagnostics and preventive healthcare.This minireview summarizes recent advancements in AI applications for FGIDs,highlighting progress in diagnostic accuracy,subtype classification,personalized interventions,and preventive strategies inspired by the traditional Chinese medicine concept of“treating the undiseased”.Machine learning and deep learning algorithms have demonstrated value in improving IBS diagnosis,refining FD neuro-gastrointestinal subtyping,and screening for GERD-related complications.Moreover,AI supports dietary,psychological,and integrative medicine-based interventions to improve patient adherence and quality of life.Nonetheless,key challenges remain,including data heterogeneity,limited model interpretability,and the need for robust clinical validation.Future directions emphasize interdisciplinary collaboration,the development of multimodal and explainable AI models,and the creation of patientcentered platforms to facilitate a shift from reactive treatment to proactive prevention.This review provides a systematic framework to guide the clinical application and theoretical innovation of AI in FGIDs.
基金supported by Department of Defense grant HT9425-24-1-0030 a grant from the Stanley Medical Research Institute(to SS).
文摘The inability to access brain tissue has greatly hindered our ability to study and care for individuals suffering from psychiatric and neurological conditions.Critics have questioned efforts to develop peripheral blood biomarkers in neurological and psychiatric disorders based on the assertion that disease pathology is limited to the brain.The discovery that all tissues,including the brain,release extracellular vesicles(Raposo and Stoorvogel,2013)and cell free DNAs(Chan et al.,2013)into various body fluids has provided a potential way to measure activity from inaccessible tissues like the central nervous system(CNS)and has given rise to the term“liquid biopsy.”The development of liquid biopsies that can diagnose and predict the course of psychiatric and neurological disorders would be transformative.The ability to predict episodic events such as mania,depression,and risk for suicide would be particularly useful for psychiatric care as it would enable the development of interventions that prevent mortality and improve outcomes.Additionally,biomarkers that are informative about drug response and aid in treatment decisions would be a significant advance in psychiatric care as it would prevent patients from having to endure multiple courses of ineffective treatments and side effects.
基金Supported by The University of Kelaniya,Sri Lanka,Research Council Grant No.G23.
文摘BACKGROUND Overweight children exhibit a higher prevalence of functional gastrointestinal disorders compared with their normal-weight peers,yet the underlying reasons remain unclear.Gastrointestinal motility,a key pathophysiological factor in functional gastrointestinal disorders,may be influenced by body mass index(BMI).AIM To evaluate the impact of BMI on gastric motility parameters in children with functional abdominal pain disorders(FAPDs).METHODS We assessed gastric motility in 176 children with FAPDs(61.4%females,mean age 7.94 years,SD 1.96 years)and 63 healthy controls(57.1%females,mean age 9.17 years,SD 1.90 years)at the Gastroenterology Research Laboratory,University of Kelaniya,Sri Lanka.FAPDs were diagnosed and subtyped using the Rome IV criteria:Functional abdominal pain 97 patients;irritable bowel syndrome 39 patients,functional dyspepsia(FD)25 patients;and abdominal migraine 15 patients.Gastric motility was measured using a validated ultrasound method.Weight and height were measured using sensitive standard scales.RESULTS The BMIs of children with FAPDs and controls were 15.04 and 15.46 kg/m^(2),respectively(P=0.33).Fasting antral area(FAA)and antral area at 1 min(AA1)and 15 min(AA15)were significantly greater in patients with FAPD with a higher BMI(2.71 cm^(2),12.57 cm^(2),and 7.19 cm^(2),respectively)compared with those with a lower BMI(2.12 cm^(2),10.68 cm^(2),and 6.13 cm^(2),respectively)(P<0.01).BMI positively correlated with FAA and AA15(r=0.18 and r=0.19,respectively)(P<0.01)in those with FAPDs.In controls,only AA1 was greater in the higher BMI group(12.51 cm^(2)vs 9.93 cm^(2))and had a positive correlation(r=0.33)(P≤0.01).Subgroup analysis revealed that in patients with FD,BMI negatively correlated with gastric emptying rate(GER)(r=-0.59)and antral motility index(MI)(r=-0.49),while in functional abdominal pain,MI positively correlated(r=0.25)with BMI(P≤0.01).CONCLUSION In children with FAPDs,higher BMI was associated with increased gastric antral distention during fasting and postprandial periods(as indicated by FAA,AA1,and AA15)but not with contractility and transit(MI,GER).However,in the FD subgroup,high BMI correlated with reduced GER and MI.This indicates the possible role of BMI in gastric hypomotility and the pathophysiology of FD.These findings underscore the importance of lifestyle and dietary interventions aimed at optimizing BMI in the management of FAPDs,particularly FD.
文摘BACKGROUND Disorders of gut-brain interaction(DGBI)are common,but knowledge about their physiopathology is still poor,nor valid tools have been used to evaluate them in childhood.AIM To develop a psycho-gastroenterological questionnaire(PGQ)to assess the psycho-gastroenterological profile and social characteristics of a pediatric population with and without DGBI.METHODS One hundred and nineteen Italian children(age 11-18)were included:28 outpatient patients with DGBI(Rome IV criteria)and 91 healthy controls.They filled the PGQ,faces pain scale revised(FPS-R),Bristol stool chart,ga-strointestinal symptoms rating scale,state-trait anxiety inventory,Toronto alexithymia scale 20,perceived self-efficacy in the management of negative emotions and expression of positive emotions(APEN-G,APEP-G),irritable bowel syndrome-quality of life questionnaire,school performances,tobacco use,early life events,degree of digital-ization.RESULTS Compared to controls,patients had more medical examinations(35%of them went to the doctor more than five times),a higher school performance(23%vs 13%,P<0.05),didn’t use tobacco(never vs 16%,P<0.05),had early life events(28%vs 1%P<0.05)and a higher percentage of pain classified as 4 in the FPS-R during the examination(14%vs 7%,P<0.05).CONCLUSION Pediatric outpatients with DGBI had a higher prevalence of early life events,a lower quality of life,more medical examinations rising health care costs,lower anxiety levels.
文摘Chat Generative Pre-trained Transformer(ChatGPT)is a conversational service that uses artificial intelligence and is also known as a chatbot.ChatGPT and similar applications have the potential to be a tool that can be used in the field of psychiatry.Eating disorders affect a large number of individuals worldwide.Tools that encourage and support people with eating disorders to seek mental health services may be critical to helping them get the care they need.However,body image,defined as the totality of a person's thoughts and perceptions about their physical appearance,has been linked to a variety of health problems,particularly among young adults,about eating disorders.There is limited literature on how chatbots respond to or provide information about body image.Preventing eating disorders before they occur is also of great importance.However,young adults who struggle with body image perception may be misled by the information produced by ChatGPT.Studies have yet to clarify whether a chatbot can improve eating disorder-related factors,eating disorder psychopathology,depression,and anxiety or detect eating disorders in advance.This study focuses on the accuracy of ChatGPT in providing information regarding eating disorders and its potential effects on body image perception.
文摘Background Mental disorders rank among the leading contributors to the global disease burden, with depressive disorders being among the most prevalent.Aims The objective of this study is to examine the prevalence, incidence and years lived with disability (YLDs) associated with depressive disorders, particularly major depressive disorder and dysthymia, in Iran from 1990 to 2021. To achieve this, the research focused on analysing these metrics across various dimensions, including temporal trends, sex differences, age categories and subnational regions.Methods The data used in this study are sourced directly from the Institute for Health Metrics and Evaluation, ensuring that the information is both authoritative and reliable. All-age count estimates and age-standardised rates (per 100 000) were calculated for prevalence, incidence and YLDs. The disease burden indicators were analysed for the period spanning from 1990 to 2021, stratified by sex, age and location. The percentage change between 1990 and 2021 was also documented. The 95% uncertainty interval (UI) was reported for each of the reported estimates.Results The prevalence of depressive disorders in Iran demonstrated a notable upward trend from 1990 to 2021, with the rate of growth being particularly pronounced within the country. The age-standardised prevalence rate per 100 000 individuals for depressive disorders in Iran was 5609 (95% UI 4810 to 6488). By 2021, the number of depression cases in Iran reached 5.2 million, which is approximately 2.37 times the figure reported in 1990. The prevalence of depressive disorders was notably higher among females compared with males. The age-standardised prevalence rate per 100 000 individuals for males was 4184 (95% UI 3545 to 4929). For females, this figure was significantly greater, reaching 7077 (95% UI 6115 to 8172). Out of the total reported cases of depressive disorders in Iran, 3.2 million were observed in females, while males accounted for 2 million cases.Conclusions The findings highlighted the considerable impact of depressive disorders in Iran, both nationally and regionally, while also revealing variations across sex and age groups. Given the shifts in the demographic structure and the growing burden of these disorders, it is essential to prioritise screening initiatives, education programmes and strategies aimed at enhancing mental health awareness and ensuring improved access to mental health services in health policy planning.
基金supported by the National Natural Science Foundation of China(T2241028)STI2030-Major Projects[2021ZD0203000(2021ZD0203003)].
文摘Mental health disorders have emerged as a critical global health challenge,profoundly impacting individuals,communities,and societies worldwide.The prevalence of mental health problems has been steadily increasing,with~1 in 8 people,equivalent to 970 million individuals suffering from a mental disorder in 2019(https://vizhub.healthdata.org/gbd-results).Anxiety and depressive disorders are predominant,contributing significantly to the burden of mental health issues,according to the World Health Organization.The COVID-19 pandemic has further exacerbated this situation.It led to a notable upsurge in anxiety and major depressive disorders in 2020.Estimates indicate a 26%rise in anxiety and a 28%increase in depression within that year(https://www.who.int/publications/i/item/WHO-2019-nCoVSci_Brief-Mental_health-2022.1)[1].
基金Supported by the Russian Science Foundation Grant,No.24-45-00067.
文摘BACKGROUND Autism spectrum disorders(ASD)represent a substantial social problem affecting at least 1 in 100 children worldwide.These conditions are very often accompanied by intellectual disability(ID)and speech delay;thus,they can be considered within a clinical continuum of neurodevelopmental disorders.Given the high heterogeneity of ASD,the subjective nature of diagnostic criteria,and the presence of phenocopies,identifying genetic determinants of these disorders remains a challenge.AIM To investigate the spectrum and frequency of rare genetic variants in genes with proven association with ASD in Russian children.METHODS 110 patients from 106 families were recruited into the study mean age at diagnosis 6 years;boy-to-girl ratio 3:1.Most of the patients(84%)demonstrated a combination of ASD with developmental delay(DD)or ID.Patients with syndromic features were subjected to the chromosomal microarray analysis.The remained children underwent clinical exome sequencing aimed at identifying presumably monogenic causes of ASD.The study focused on rare(minor allele frequency≤0.001)variants affecting high-confidence ASD-associated genes.RESULTS Pathogenic copy number variations were detected in three(7%)of the patients examined.Clinical exome sequencing revealed pathogenic/likely pathogenic variants in 12 of 105 cases(11%),indicating the presence of monogenic syndromes with established clinical significance(Pitt-Hopkins syndrome,ZTTK syndrome,syndromic X-linked ID of Billuart type,Snijders-Blok-Campeau,Helsmoortel-van der Aa,Coffin-Siris,Clark-Baraitser,Keefstra syndromes,etc.).In addition,27 patients(26%)had 37 rare variants of unknown clinical significance in DSCAM,SHANK2,AUTS2,ADNP,ANKRD11,APBA2,ARID1B,ASTN2,ATRX,SCN1A,CHD2,DEAF1,EHMT1,GRIN2B,NBEA,NR4A2,TRIO,TRIP12,POGZ,EP300,FOXP1,PCDH19,GRIN2A,NCKAP1,and CHD8 genes.No specific variant was detected more than once in unrelated patients.Among the genes with rare variants found in 2 or more patients were TRIP12(n=4),AUTS2(n=3),ARID1B(n=3),PCDH19(n=3),EP300(n=3),TRIO(n=2),ASTN2(n=2),EHMT1(n=2),and CHD2(n=2).Of note,5 male ASD/DD patients from 3 unrelated families had PCDH19 missense variants,confirming that at least some hemizygous males with non-mosaic PCDH19 variants may present with neurobehavioral abnormalities.These variants did not cause epilepsy restricted to females in patients’mothers or sisters.CONCLUSION These data confirm a tremendous diversity of genetic causes of ASD.Clinical exome sequencing may serve as a reasonable alternative to whole-exome sequencing.
基金funded by Shaoxing University’s enterprise important horizontal topic(No.2024USXH287)the Graduate research project of Shaoxing University(Nos.Y20240280)。
文摘The global aging crisis has increased the prevalence of skeletal disorders,necessitating innovative therapeutic strategies.This review employs the brain-bone axis(BBA)framework to examine the role of the sympathetic nervous system(SNS)in bone metabolism.The research systematically elucidates the molecular mechanisms by which the SNS mediates signaling pathways through neurofibers and neurotransmitters,such as norepinephrine,dopamine,neuropeptide Y,and leptin,regulating interactions between bone-related cells to maintain skeletal homeostasis.It also identifies the pathological associations between the dysregulation of these pathways and the progression of bone-related conditions,such as osteoporosis,osteoarthritis,and intervertebral disc degeneration.By integrating current evidence,we identify novel therapeutic targets within the BBA and propose neuro-centric intervention strategies to mitigate skeletal diseases.This review deepens the understanding of neuro-skeletal interactions and lays a foundation for innovative treatments for bone-related pathologies.
基金supported by the 2021 Shandong Province Higher Education Institutions“Youth Innovation Talent Introduction and Cultivation Plan”(Public Health Safety Risk Assessment and Response Innovation Team)National Traditional Chinese Medicine Comprehensive Reform Demonstration Zone Science and Technology Co construction Project(No.GZYKJSSD-2024-106)Research Project of Shandong Educational Supervision Society(No.SDJYDDXH2023-2159).
文摘Dentistry is a profession with a high prevalence of work-related musculoskeletal disorders(WMSDs),with symptoms often appearing very early in one’s career[1].WMSDs are conditions affecting the muscles,bones,and nervous system due to occupational factors.In 2002,the International Labor Organization included musculoskeletal diseases in the International List of Occupational Diseases.China’s recently updated Classification and Catalog of Occupational Diseases has introduced two new categories of occupational illnesses,including occupational musculoskeletal disorders.WMSDs significantly impact the health and work of dentists,reducing their quality of life and causing economic losses.These disorders are multifactorial in nature,influenced by personal,psychosocial,biomechanical,and environmental factors.Dentists frequently maintain static or awkward postures during procedures,which leads to musculoskeletal strain and discomfort;additionally,long working hours contribute to psychological stress,further increasing the risk of WMSDs[2].
基金Supported by The University of Kelaniya,No.RP/03/04/13/01/01.
文摘BACKGROUND Functional abdominal pain disorders(FAPDs)are common gut–brain interaction disorders with unclear pathophysiology.While impaired gastrointestinal motility is thought to play a key role,small intestinal dysmotility remains largely unexplored.Orocecal transit time(OCTT),an indirect indicator of small intestinal transit,offers an insight into its potential contribution to FAPD's pathophysiology.AIM To assess OCTT in children with FAPDs compared with healthy children using the lactulose breath hydrogen test.METHODS Thirty-four children(44.1%males,age 5–12 years,mean 7.2±2.4 years)with FAPDs attending North Colombo Teaching Hospital,Ragama,Sri Lanka,were included in the analysis.FAPDs were diagnosed using the Rome IV criteria.None had clinical or laboratory evidence of organic diseases.They were compared with 19 healthy controls(47.1%males,age 5-12 years,mean 7.8±2.7 years)from the same geographical area.OCTT was calculated after an 8-hour fast using a previously validated technique.Breath hydrogen levels were measured at baseline and 15-minute intervals for 180 minutes post-lactulose ingestion(10 g in 10%solution).At each time point,3 breath samples were collected and analyzed.OCTT was quantified as the time taken to achieve a sustained breath hydrogen increase>10 parts per million above baseline.Symptoms were recorded using the Rome IV questionnaire,and symptom severity was graded on a 0-4 Likert scale.RESULTS Patients with FAPDs had increased OCTT(median,90 minutes;interquartile range,75-120 minutes)compared to controls(median,75 minutes;interquartile range,60-75 minutes)(P=0.0045,Mann-Whitney U-test).Children with functional dyspepsia had the longest mean OCTT(110.8±26.7 minutes).There was no significant correlation between abdominal pain severity and OCTT(r=0.18,P=0.35,Spearman correlation coefficient).OCTT did not differ between those exposed to stressful events and those not exposed to such events(P>0.05).CONCLUSION Children with FAPDs have longer OCTT than healthy controls.However,the lack of a significant correlation between OCTT and symptom severity suggests that delayed small intestinal transit alone is not a substantial contributor to FAPD pathophysiology.
文摘Introduction: Genital prolapse is a health problem that gynaecologists are increasingly facing due to patients’ legitimate demands for care and the improvement in life expectancy without associated disabilities. The objective of this work was to evaluate the clinical aspects and functional disorders of patients with genital prolapse in Butembo in Democratic Republic of the Congo (DRC). Material and Methods: A descriptive study with analytical aims was conducted from January 1 to September 30, 2024 in Butembo/DRC. It involved 112 patients with symptomatic genital prolapse in whom an interview on functional disorders as well as clinical assessment according to the Baden and Walker classification were carried out. The data were entered into Microsoft Office LTSC 2021 Excel software and analysed using R software version 4.4.0. Results: Patients aged over 50 years were exposed to developing genital prolapse especially the mixed type (81.1%) compared to those aged under 50 years (p-value 0.014). Multi and large multiparous women had developed all types of prolapse especially the mixed type (100%) compared to primiparous and pauciparous women (p-value 0.027). Associated pathologies were more observed in case of mixed prolapse (51.4%) including vesicovaginal fistula (37.8%) (p-value Conclusion: Genital prolapse is common and functional urinary, sexual and anorectal signs are frequently observed in patients in Butembo/DRC.
