Objectives: Digital refractory gangrene is rarely found in collagen diseases, including systemic sclerosis and is possibly caused by similar underlying vascular damage in peripheral arterial disease (PAD) such as arte...Objectives: Digital refractory gangrene is rarely found in collagen diseases, including systemic sclerosis and is possibly caused by similar underlying vascular damage in peripheral arterial disease (PAD) such as arteriosclerosis obliterans (ASO) and/or thromboangiitis obliterans (TAO) by unclarified mechanisms other than vasculitis and thrombosis. This study evaluated the radiological imaging in patients with digital gangrene associated with collagen disease and compared the images with those of PAD based on the results of laboratory and histopathological examinations. Methods: Angiography, MR angiography and/or CT angiography were performed on 6 patients with refractory gangrene or extensive ulcers accompanied by scleroderma-spectrum disorders;3 with diffuse systemic sclerosis, 1 with limited systemic sclerosis, 1 with overlap syndrome and 1 with Sj?gren’s syndrome. Results: Although the vascular alterations in collagen diseases were similar to those in PAD, the abnormal image findings (occlusion or stenosis of the arteries with smooth vessel walls) found in collagen diseases did not include atheromatous plaque, which are worm-like vessels that are characteristic of those observed in PAD. Conclusions: Some cases of digital gangrene seen in collagen diseases show similar vascular imaging patterns to those of PAD and comprehensive examinations including arterial imaging can be useful for the diagnosis of these unrecognized vascular changes other than vasculitis or digital thrombosis.展开更多
INTRODUCTION.Depressive disorders are mental illnesses that seriously affect public health.There are approximately 320 million patients with depression worldwide,accounting for 4.4% of the total disease burden.1Depres...INTRODUCTION.Depressive disorders are mental illnesses that seriously affect public health.There are approximately 320 million patients with depression worldwide,accounting for 4.4% of the total disease burden.1Depression leads to social and occupational impairment,diminished quality of life and an elevated risk of death by suicide.展开更多
During pregnancy,maternal immune activation(MIA),due to infection,chronic inflammatory disorders,or toxic exposures,can result in lasting health impacts on the developing fetus.MIA has been associated with an increase...During pregnancy,maternal immune activation(MIA),due to infection,chronic inflammatory disorders,or toxic exposures,can result in lasting health impacts on the developing fetus.MIA has been associated with an increased risk of neurodevelopmental disorders,such as autism spectrum disorder(ASD)in the offspring.ASD is characterized by increased repetitive and stereotyped behaviors and decreased sociability.As of 2020,1 in 36 children are diagnosed with ASD by the age of 8 years,with ASD rates continuing to increase in prevalence in USA(Tamayo et al.,2023).Post-mortem brain studies,biomarker and transcriptomic studies,and epidemiology studies have provided compelling evidence of immune dysregulation in the circulation and brain of individuals diagnosed with ASD.Currently,the etiology of ASD is largely unknown,however,genetic components and environmental factors can contribute to increased susceptibility.Maternal allergic asthma(MAA),a form of MIA,has been identified as a potential risk factor for developing neurodevelopmental disorders(Patel et al.,2020).Asthma is a chronic inflammatory condition driven by a T-helper type(TH)2 immune response.展开更多
Tropomyosin receptor kinase B(TrkB)signaling plays a pivotal role in dendritic growth and dendritic spine formation to promote learning and memory.The activity-dependent release of brain-derived neurotrophic factor at...Tropomyosin receptor kinase B(TrkB)signaling plays a pivotal role in dendritic growth and dendritic spine formation to promote learning and memory.The activity-dependent release of brain-derived neurotrophic factor at synapses binds to pre-or postsynaptic TrkB resulting in the strengthening of synapses,reflected by long-term potentiation.Postsynaptically,the association of postsynaptic density protein-95 with TrkB enhances phospholipase Cγ-Ca^(2+)/calmodulin-dependent protein kinaseⅡand phosphatidylinositol 3-kinase-mechanistic target of rapamycin signaling required for long-term potentiation.In this review,we discuss TrkB-postsynaptic density protein-95 coupling as a promising strategy to magnify brain-derived neurotrophic factor signaling towards the development of novel therapeutics for specific neurological disorders.A reduction of TrkB signaling has been observed in neurodegenerative disorders,such as Alzheimer's disease and Huntington's disease,and enhancement of postsynaptic density protein-95 association with TrkB signaling could mitigate the observed deficiency of neuronal connectivity in schizophrenia and depression.Treatment with brain-derived neurotrophic factor is problematic,due to poor pharmacokinetics,low brain penetration,and side effects resulting from activation of the p75 neurotrophin receptor or the truncated TrkB.T1 isoform.Although TrkB agonists and antibodies that activate TrkB are being intensively investigated,they cannot distinguish the multiple human TrkB splicing isoforms or cell type-specific functions.Targeting TrkB–postsynaptic density protein-95 coupling provides an alternative approach to specifically boost TrkB signaling at localized synaptic sites versus global stimulation that risks many adverse side effects.展开更多
Alcohol use disorder(AUD)is a medical condition that impairs a person's ability to stop or manage their drinking in the face of negative social,occupational,or health consequences.AUD is defined by the National In...Alcohol use disorder(AUD)is a medical condition that impairs a person's ability to stop or manage their drinking in the face of negative social,occupational,or health consequences.AUD is defined by the National Institute on Alcohol Abuse and Alcoholism as a"severe problem".The central nervous system is the primary target of alcohol's adverse effects.It is crucial to identify various neurological disorders associated with AUD,including alcohol withdrawal syndrome,Wernicke-Korsakoff syndrome,Marchiafava-Bignami disease,dementia,and neuropathy.To gain a better understanding of the neurological environment of alcoholism and to shed light on the role of various neurotransmitters in the phenomenon of alcoholism.A comprehensive search of online databases,including PubMed,EMBASE,Web of Science,and Google Scholar,was conducted to identify relevant articles.Several neurotransmitters(dopamine,gammaaminobutyric acid,serotonin,and glutamate)have been linked to alcoholism due to a brain imbalance.Alcoholism appears to be a complex genetic disorder,with variations in many genes influencing risk.Some of these genes have been identified,including two alcohol metabolism genes,alcohol dehydrogenase 1B gene and aldehyde dehydrogenase 2 gene,which have the most potent known effects on the risk of alcoholism.Neuronal degeneration and demyelination in people with AUD may be caused by neuronal damage,nutrient deficiencies,and blood brain barrier dysfunction;however,the underlying mechanism is unknown.This review will provide a detailed overview of the neurobiology of alcohol addiction,followed by recent studies published in the genetics of alcohol addiction,molecular mechanism and detailed information on the various acute and chronic neurological manifestations of alcoholism for the Future research.展开更多
A range of neurodegenerative disorders,collectively termed parkinsonian disorders,present with a complex array of both motor and non-motor symptoms.Included in this group are Parkinson’s disease(PD),dementia with Lew...A range of neurodegenerative disorders,collectively termed parkinsonian disorders,present with a complex array of both motor and non-motor symptoms.Included in this group are Parkinson’s disease(PD),dementia with Lewy bodies(DLB),multiple system atrophy(MSA),corticobasal syndrome(CBS),and progressive supranuclear palsy(PSP).These disorders are differentiated neuropathologically by their dominant protein pathologies involvingα-synuclein(α-syn)and/or tau,the types of brain cells affected,such as neurons,oligodendroglia,and astrocytes,and the specific brain regions involved(Tolosa et al.,2021).展开更多
BACKGROUND Bipolar disorder(BD)is a severe mental illness characterized by significant mood swings.Effective drug treatment modalities are crucial for managing BD.AIM To analyze the current status and future trends of...BACKGROUND Bipolar disorder(BD)is a severe mental illness characterized by significant mood swings.Effective drug treatment modalities are crucial for managing BD.AIM To analyze the current status and future trends of global research on BD drug treatment over the last decade.METHODS The Web of Science Core Collection database spanning from 2015 to 2024 was utilized to retrieve literature related to BD drug treatment.A total of 2624 articles were extracted.Data visualization and analysis were conducted using CiteSpace,VOSviewer,Pajek,Scimago Graphica,and R-studio bibliometrix to identify RESULTS The United States,China,and the United Kingdom have made the most significant contributions to research on BD drug treatment and formed notable research collaboration networks.The University of Pittsburgh,Massachusetts General Hospital,and the University of Michigan have been identified as the major research institutions in this field.The Journal of Affective Disorders is the most influential journal.A keyword analysis revealed research hotspots related to clinical symptoms,drug efficacy,and genetic mechanisms.A citation analysis identified the management guidelines published by Yatham et al in 2018 as the most cited paper.CONCLUSION This study provides a detailed overview of the field of BD drug treatment,highlighting key contributors,research hotspots,and future directions.The study findings can be employed as a reference for future research and policymaking,which may enable further development and optimization of BD pharmacotherapy.展开更多
Stromal vascular fraction(SVF)is a complex mixture derived from adipose tissue,consisting of a variety of cells.Due to its potential for tissue repair,immunomod-ulation,and support of angiogenesis,SVF represents a pro...Stromal vascular fraction(SVF)is a complex mixture derived from adipose tissue,consisting of a variety of cells.Due to its potential for tissue repair,immunomod-ulation,and support of angiogenesis,SVF represents a promising frontier in regenerative medicine and offers potential therapy for a range of disease condi-tions.In this article,we delve into the mechanisms through which SVF exerts its effects and explore its potential applications in treating both male and female reproductive disorders,including erectile dysfunction,testicular injury,stress urinary incontinence and intrauterine adhesion.展开更多
Objective To analyze the prevalence and burden of headache disorders in China and its provinces from 1990 to 2021.Methods Using data from the Global Burden of Disease Study(GBD)2021,the number of prevalent cases,preva...Objective To analyze the prevalence and burden of headache disorders in China and its provinces from 1990 to 2021.Methods Using data from the Global Burden of Disease Study(GBD)2021,the number of prevalent cases,prevalence rate,disability-adjusted life years(DALYs),and age-standardized DALY rates were analyzed by sex,age group,and province for headache disorders and their subtypes(migraine and tension-type headache[TTH])between 1990 and 2021.Percentage changes during this period were also estimated.Results In 2021,approximately 426 million individuals in China were affected by headache disorders,with an age-standardized prevalence rate of 27,582.61/100,000.The age-standardized DALY rate for all headache disorders was 487.15/100,000.Between 1990 and 2021,the number of prevalent cases increased by 37.78%,while the prevalence of all headache disorders,migraine,and TTH increased by 6.92%,7.57%,and 7.86%,respectively.The highest prevalence was observed in the 30-34 age group(39,520.60/100,000).Migraine accounted for a larger proportion of DALYs attributable to headache disorders,whereas TTH has a greater impact on its prevalence.In 2021,the highest age-standardized DALY rates for headache disorders were observed in Heilongjiang(617.85/100,000)and Shanghai(542.86/100,000).Conclusion The prevalence of headache disorders is increasing in China.Effective health education,improve diagnosis and treatment are essential,particularly for middle-aged working populations and women of childbearing age.展开更多
Neuromyelitis optica spectrum disorders are neuroinflammatory demyelinating disorders that lead to permanent visual loss and motor dysfunction.To date,no effective treatment exists as the exact causative mechanism rem...Neuromyelitis optica spectrum disorders are neuroinflammatory demyelinating disorders that lead to permanent visual loss and motor dysfunction.To date,no effective treatment exists as the exact causative mechanism remains unknown.Therefore,experimental models of neuromyelitis optica spectrum disorders are essential for exploring its pathogenesis and in screening for therapeutic targets.Since most patients with neuromyelitis optica spectrum disorders are seropositive for IgG autoantibodies against aquaporin-4,which is highly expressed on the membrane of astrocyte endfeet,most current experimental models are based on aquaporin-4-IgG that initially targets astrocytes.These experimental models have successfully simulated many pathological features of neuromyelitis optica spectrum disorders,such as aquaporin-4 loss,astrocytopathy,granulocyte and macrophage infiltration,complement activation,demyelination,and neuronal loss;however,they do not fully capture the pathological process of human neuromyelitis optica spectrum disorders.In this review,we summarize the currently known pathogenic mechanisms and the development of associated experimental models in vitro,ex vivo,and in vivo for neuromyelitis optica spectrum disorders,suggest potential pathogenic mechanisms for further investigation,and provide guidance on experimental model choices.In addition,this review summarizes the latest information on pathologies and therapies for neuromyelitis optica spectrum disorders based on experimental models of aquaporin-4-IgG-seropositive neuromyelitis optica spectrum disorders,offering further therapeutic targets and a theoretical basis for clinical trials.展开更多
BACKGROUND Functional gastrointestinal disorders(FGIDs)in children present with chronic symptoms like abdominal pain,diarrhea,and constipation without identifiable structural abnormalities.These disorders are closely ...BACKGROUND Functional gastrointestinal disorders(FGIDs)in children present with chronic symptoms like abdominal pain,diarrhea,and constipation without identifiable structural abnormalities.These disorders are closely linked to gut-brain axis dysfunction,altered gut microbiota,and psychosocial stress,leading to psychia-tric comorbidities such as anxiety,depression,and behavioral issues.Under-standing this bidirectional relationship is crucial for developing effective,holistic management strategies that address physical and mental health.AIM To examine the psychiatric impacts of FGIDs in children,focusing on anxiety and depression and their association with other neurodevelopmental disorders of childhood,such as attention-deficit/hyperactivity disorder,emphasizing the role of the gut-brain axis,emotional dysregulation,and psychosocial stress.Key mechanisms explored include neurotransmitter dysregulation,microbiota imbalance,central sensitization,heightening stress reactivity,emotional dysregulation,and symptom perception.The review also evaluates the role of family dynamics and coping strategies in exacerbating FGID symptoms and contributing to psychiatric conditions.METHODS A narrative review was conducted using 328 studies sourced from PubMed,Scopus,and Google Scholar,covering research published over the past 20 years.Inclusion criteria focused on studies examining FGID diagnosis,gut-brain mechanisms,psychiatric comorbidities,and psychosocial factors in pediatric populations.FGIDs commonly affecting children,including functional constipation,abdominal pain,irritable bowel syndrome,gastroesophageal reflux,and cyclic vomiting syndrome,were analyzed concerning their psychological impacts.RESULTS The review highlights a strong connection between FGIDs and psychiatric symptoms,mediated by gut-brain axis dysfunction,dysregulated microbiota,and central sensitization.These physiological disruptions increase children’s vulnerability to anxiety and depression,while psychosocial factors-such as chronic stress,early-life trauma,maladaptive family dynamics,and ineffective coping strategies-intensify the cycle of gastrointestinal and emotional distress.CONCLUSION Effective management of FGIDs requires a biopsychosocial approach integrating medical,psychological,and dietary interventions.Parental education,early intervention,and multidisciplinary care coordination are critical in mitigating long-term psychological impacts and improving both gastrointestinal and mental health outcomes in children with FGIDs.展开更多
Background:People working outdoors in the Map Ta Phut pollution control area of Thailand require comprehen-sive health monitoring.In the past,studies have been done on the health effects of pollutants.However,there ar...Background:People working outdoors in the Map Ta Phut pollution control area of Thailand require comprehen-sive health monitoring.In the past,studies have been done on the health effects of pollutants.However,there are few studies on musculoskeletal disorders(MSDs),and Thailand is struggling to meet the Sustainable Development Goals.Methods:This cross-sectional study examines access to health services and factors affecting MSDs among outdoor pollution workers(OPWs).The sample group includes OPWs,including local fisherman,street vendors,public car drivers,and traffic police.We studied 50 people from each of these groups,for a total of 200 people.Data were analyzed with inferential statistics using Chi-square test,McNemar test,and Univariate logistic regression.Results:The OPWs reported experiencing significantly more total MSDs pain than they did in the past(P<0.05).Factors affecting current MSDs pain,including occupation and working days per week,were significant(P<0.05).The street vendor group and public car driver group had(odds ratio[OR]=2.253,95%confidence interval[CI]:1.101 to 5.019)and(OR=2.681,95%CI:1.191 to 6.032)times higher risks of MSDs pain,respectively.OPWs who work>5 days per week had a(OR=1.464,95%CI:1.093 to 2.704)times higher risk of MSDs pain.52.7%of OPWs with MSDs,pain(n=110)had received an annual health check-up.In the past year,50.9%had minor illnesses and 21.8%had severe illnesses.OPWs receiving free treatment and visiting health service stations for no cost comprised 77.3%and 51.8%,respectively.60.9%used their right to receive treatment with universal health insurance cards.Conclusions:The study indicates that occupational groups with MSDs pain problems should exercise this right,according to the worker protection law.Local health agencies should organize activities or create accessible media to promote preventive medicine services,as many OPWs believe that health services can only be accessed when illness occurs.展开更多
BACKGROUND Mild cognitive impairment(MCI)has a high risk of progression to Alzheimer’s disease.The disease is often accompanied by sleep disorders,and whether sleep disorders have an effect on brain function in patie...BACKGROUND Mild cognitive impairment(MCI)has a high risk of progression to Alzheimer’s disease.The disease is often accompanied by sleep disorders,and whether sleep disorders have an effect on brain function in patients with MCI is unclear.AIM To explore the near-infrared brain function characteristics of MCI with sleep disorders.METHODS A total of 120 patients with MCI(MCI group)and 50 healthy subjects(control group)were selected.All subjects underwent the functional near-infrared spec-troscopy test.Collect baseline data,Mini-Mental State Examination,Montreal Cognitive Assessment scale,fatigue severity scale(FSS)score,sleep parameter,and oxyhemoglobin(Oxy-Hb)concentration and peak time of functional near-infrared spectroscopy test during the task period.The relationship between Oxy-RESULTS Compared with the control group,the FSS score of the MCI group was higher(t=11.310),and the scores of Pittsburgh sleep quality index,sleep time,sleep efficiency,nocturnal sleep disturbance,and daytime dysfunction were higher(Z=-10.518,-10.368,-9.035,-10.661,-10.088).Subjective sleep quality and total sleep time scores were lower(Z=-11.592,-9.924).The sleep efficiency of the MCI group was lower,and the awakening frequency,rem sleep latency period,total sleep time,and oxygen desaturation index were higher(t=5.969,5.829,2.887,3.003,5.937).The Oxy-Hb concentration at T0,T1,and T2 in the MCI group was lower(t=14.940,11.280,5.721),and the peak time was higher(t=18.800,13.350,9.827).In MCI patients,the concentration of Oxy-Hb during T0 was negatively correlated with the scores of Pittsburgh sleep quality index,sleep time,total sleep time,and sleep efficiency(r=-0.611,-0.388,-0.563,-0.356).It was positively correlated with sleep efficiency and total sleep time(r=0.754,0.650),and negatively correlated with oxygen desaturation index(r=-0.561)and FSS score(r=-0.526).All comparisons were P<0.05.CONCLUSION Patients with MCI and sleep disorders have lower near-infrared brain function than normal people,which is related to sleep quality.Clinically,a comprehensive assessment of the near-infrared brain function of patients should be carried out to guide targeted treatment and improve curative effect.展开更多
The central nervous system, information integration center of the body, is mainly composed of neurons and glial cells. The neuron is one of the most basic and important structural and functional units of the central n...The central nervous system, information integration center of the body, is mainly composed of neurons and glial cells. The neuron is one of the most basic and important structural and functional units of the central nervous system, with sensory stimulation and excitation conduction functions. Astrocytes and microglia belong to the glial cell family, which is the main source of cytokines and represents the main defense system of the central nervous system. Nerve cells undergo neurotransmission or gliotransmission, which regulates neuronal activity via the ion channels, receptors, or transporters expressed on nerve cell membranes. Ion channels, composed of large transmembrane proteins, play crucial roles in maintaining nerve cell homeostasis. These channels are also important for control of the membrane potential and in the secretion of neurotransmitters. A variety of cellular functions and life activities, including functional regulation of the central nervous system, the generation and conduction of nerve excitation, the occurrence of receptor potential, heart pulsation, smooth muscle peristalsis, skeletal muscle contraction, and hormone secretion, are closely related to ion channels associated with passive transmembrane transport. Two types of ion channels in the central nervous system, potassium channels and calcium channels, are closely related to various neurological disorders, including Alzheimer's disease, Parkinson's disease, and epilepsy. Accordingly, various drugs that can affect these ion channels have been explored deeply to provide new directions for the treatment of these neurological disorders. In this review, we focus on the functions of potassium and calcium ion channels in different nerve cells and their involvement in neurological disorders such as Parkinson's disease, Alzheimer's disease, depression, epilepsy, autism, and rare disorders. We also describe several clinical drugs that target potassium or calcium channels in nerve cells and could be used to treat these disorders. We concluded that there are few clinical drugs that can improve the pathology these diseases by acting on potassium or calcium ions. Although a few novel ion-channelspecific modulators have been discovered, meaningful therapies have largely not yet been realized. The lack of target-specific drugs, their requirement to cross the blood–brain barrier, and their exact underlying mechanisms all need further attention. This review aims to explain the urgent problems that need research progress and provide comprehensive information aiming to arouse the research community's interest in the development of ion channel-targeting drugs and the identification of new therapeutic targets for that can increase the cure rate of nervous system diseases and reduce the occurrence of adverse reactions in other systems.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
The complex pathophysiology and diverse manifestations of esophageal disorders pose challenges in clinical practice,particularly in achieving accurate early diagnosis and risk stratification.While traditional approach...The complex pathophysiology and diverse manifestations of esophageal disorders pose challenges in clinical practice,particularly in achieving accurate early diagnosis and risk stratification.While traditional approaches rely heavily on subjective interpretations and variable expertise,machine learning(ML)has emerged as a transformative tool in healthcare.We conducted a comprehensive review of published literature on ML applications in esophageal diseases,analyzing technical approaches,validation methods,and clinical outcomes.ML demonstrates superior performance:In gastroesophageal reflux disease,ML models achieve 80%-90%accuracy in potential of hydrogen-impedance analysis and endoscopic grading;for Barrett’s esophagus,ML-based approaches show 88%-95% accuracy in invasive diagnostics and 77%-85% accuracy in non-invasive screening.In esophageal cancer,ML improves early detection and survival prediction by 6%-10% compared to traditional methods.Novel applications in achalasia and esophageal varices demonstrate promising results in automated diagnosis and risk stratification,with accuracy rates exceeding 85%.While challenges persist in data standardization,model interpretability,and clinical integration,emerging solutions in federated learning and explainable artificial intelligence offer promising pathways forward.The continued evolution of these technologies,coupled with rigorous validation and thoughtful implementation,may fundamentally transform our approach to esophageal disease management in the era of precision medicine.展开更多
Rare neurological diseases,while individually are rare,collectively impact millions globally,leading to diverse and often severe neurological symptoms.Often attributed to genetic mutations that disrupt protein functio...Rare neurological diseases,while individually are rare,collectively impact millions globally,leading to diverse and often severe neurological symptoms.Often attributed to genetic mutations that disrupt protein function or structure,understanding their genetic basis is crucial for accurate diagnosis and targeted therapies.To investigate the underlying pathogenesis of these conditions,researchers often use non-mammalian model organisms,such as Drosophila(fruit flies),which is valued for their genetic manipulability,cost-efficiency,and preservation of genes and biological functions across evolutionary time.Genetic tools available in Drosophila,including CRISPR-Cas9,offer a means to manipulate gene expression,allowing for a deep exploration of the genetic underpinnings of rare neurological diseases.Drosophila boasts a versatile genetic toolkit,rapid generation turnover,and ease of large-scale experimentation,making it an invaluable resource for identifying potential drug candidates.Researchers can expose flies carrying disease-associated mutations to various compounds,rapidly pinpointing promising therapeutic agents for further investigation in mammalian models and,ultimately,clinical trials.In this comprehensive review,we explore rare neurological diseases where fly research has significantly contributed to our understanding of their genetic basis,pathophysiology,and potential therapeutic implications.We discuss rare diseases associated with both neuron-expressed and glial-expressed genes.Specific cases include mutations in CDK19 resulting in epilepsy and developmental delay,mutations in TIAM1 leading to a neurodevelopmental disorder with seizures and language delay,and mutations in IRF2BPL causing seizures,a neurodevelopmental disorder with regression,loss of speech,and abnormal movements.And we explore mutations in EMC1 related to cerebellar atrophy,visual impairment,psychomotor retardation,and gain-of-function mutations in ACOX1 causing Mitchell syndrome.Loss-of-function mutations in ACOX1 result in ACOX1 deficiency,characterized by very-long-chain fatty acid accumulation and glial degeneration.Notably,this review highlights how modeling these diseases in Drosophila has provided valuable insights into their pathophysiology,offering a platform for the rapid identification of potential therapeutic interventions.Rare neurological diseases involve a wide range of expression systems,and sometimes common phenotypes can be found among different genes that cause abnormalities in neurons or glia.Furthermore,mutations within the same gene may result in varying functional outcomes,such as complete loss of function,partial loss of function,or gain-of-function mutations.The phenotypes observed in patients can differ significantly,underscoring the complexity of these conditions.In conclusion,Drosophila represents an indispensable and cost-effective tool for investigating rare neurological diseases.By facilitating the modeling of these conditions,Drosophila contributes to a deeper understanding of their genetic basis,pathophysiology,and potential therapies.This approach accelerates the discovery of promising drug candidates,ultimately benefiting patients affected by these complex and understudied diseases.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
The general objective of our study was to describe the clinical and epidemiological aspects of anxiety disorders. This was a retrospective descriptive cross-sectional study, lasting 5 years, from January 01, 2019 to D...The general objective of our study was to describe the clinical and epidemiological aspects of anxiety disorders. This was a retrospective descriptive cross-sectional study, lasting 5 years, from January 01, 2019 to December 31, 2023, on 225 patients seen in consultation for anxiety disorders in the department. The prevalence of anxiety disorders was 2.5% in consultation. The 20 - 29 age group was the most represented at 33.3%. Females were slightly represented at 55.1%, with a sex ratio of 1.2. The secondary level was the most affected, accounting for 36.4% of cases. Insomnia was the most frequent reason for consultation, accounting for 71.1% of cases. A larger general population study would be necessary to better assess the extent of anxiety disorders in Guinea.展开更多
Nursing staff provides patient care in an occupational environment that often imposes challenges that affect significantly the musculoskeletal system.Work-related musculoskeletal disorders are common in nursing stuff ...Nursing staff provides patient care in an occupational environment that often imposes challenges that affect significantly the musculoskeletal system.Work-related musculoskeletal disorders are common in nursing stuff and have a negative impact in their professional and daily activities.In the current editorial,the duties of nursing staff,the types of musculoskeletal disorders,the predis-posing factors(including factors related to professional tasks/ergonomics and to working schedules,psychological,social and individual factors)and their impact on working ability and quality of life nursing staff are summarized and pre-ventive measures are proposed.展开更多
文摘Objectives: Digital refractory gangrene is rarely found in collagen diseases, including systemic sclerosis and is possibly caused by similar underlying vascular damage in peripheral arterial disease (PAD) such as arteriosclerosis obliterans (ASO) and/or thromboangiitis obliterans (TAO) by unclarified mechanisms other than vasculitis and thrombosis. This study evaluated the radiological imaging in patients with digital gangrene associated with collagen disease and compared the images with those of PAD based on the results of laboratory and histopathological examinations. Methods: Angiography, MR angiography and/or CT angiography were performed on 6 patients with refractory gangrene or extensive ulcers accompanied by scleroderma-spectrum disorders;3 with diffuse systemic sclerosis, 1 with limited systemic sclerosis, 1 with overlap syndrome and 1 with Sj?gren’s syndrome. Results: Although the vascular alterations in collagen diseases were similar to those in PAD, the abnormal image findings (occlusion or stenosis of the arteries with smooth vessel walls) found in collagen diseases did not include atheromatous plaque, which are worm-like vessels that are characteristic of those observed in PAD. Conclusions: Some cases of digital gangrene seen in collagen diseases show similar vascular imaging patterns to those of PAD and comprehensive examinations including arterial imaging can be useful for the diagnosis of these unrecognized vascular changes other than vasculitis or digital thrombosis.
基金funded by the Construction Project of the"Flagship"Department of Chinese and Western Medicine Coordination(LiuL/2024-221)the 2024 Medical Service and Security Capacity Improvement Project(National Clinical Key Specialty Construction)(LiuL/Huwei Medical/2024-65)+5 种基金the Shanghai Traditional Chinese Medicine Standardization Project(LiuL/No.2023JSP03)the Shanghai Key Discipline Construction Project of Traditional Chinese Medicine(Clinical)(LiuL/2024-No.3)the Shanghai Technical Standardization Management and Promotion Project(LiuL/No.SHDC22023212)the Shanghai Municipal Health Commission Traditional Chinese Medicine Research Project(2022)(LiuL/No.2022Cx004)Clinical research project of Shanghai Health Commission-Youth Project(LW/No.20214Y0056)Shanghai Institute of Traditional Chinese Medicine for Mental Health(LW/No.SZB2023201).
文摘INTRODUCTION.Depressive disorders are mental illnesses that seriously affect public health.There are approximately 320 million patients with depression worldwide,accounting for 4.4% of the total disease burden.1Depression leads to social and occupational impairment,diminished quality of life and an elevated risk of death by suicide.
基金supported by the National Institute of Environmental Health Sciences(R21ES035492,R21ES035969)National Institutes of Child Health(R01HD090214)(to PA).
文摘During pregnancy,maternal immune activation(MIA),due to infection,chronic inflammatory disorders,or toxic exposures,can result in lasting health impacts on the developing fetus.MIA has been associated with an increased risk of neurodevelopmental disorders,such as autism spectrum disorder(ASD)in the offspring.ASD is characterized by increased repetitive and stereotyped behaviors and decreased sociability.As of 2020,1 in 36 children are diagnosed with ASD by the age of 8 years,with ASD rates continuing to increase in prevalence in USA(Tamayo et al.,2023).Post-mortem brain studies,biomarker and transcriptomic studies,and epidemiology studies have provided compelling evidence of immune dysregulation in the circulation and brain of individuals diagnosed with ASD.Currently,the etiology of ASD is largely unknown,however,genetic components and environmental factors can contribute to increased susceptibility.Maternal allergic asthma(MAA),a form of MIA,has been identified as a potential risk factor for developing neurodevelopmental disorders(Patel et al.,2020).Asthma is a chronic inflammatory condition driven by a T-helper type(TH)2 immune response.
基金supported by Postdoc Fellowship from the Foundation for Angelman Syndrome Therapeutics(FT2022-005 to JM,PD2023-001 to XY,and FT2024-001 to YAH)STTR R41 MH118747(to JM)。
文摘Tropomyosin receptor kinase B(TrkB)signaling plays a pivotal role in dendritic growth and dendritic spine formation to promote learning and memory.The activity-dependent release of brain-derived neurotrophic factor at synapses binds to pre-or postsynaptic TrkB resulting in the strengthening of synapses,reflected by long-term potentiation.Postsynaptically,the association of postsynaptic density protein-95 with TrkB enhances phospholipase Cγ-Ca^(2+)/calmodulin-dependent protein kinaseⅡand phosphatidylinositol 3-kinase-mechanistic target of rapamycin signaling required for long-term potentiation.In this review,we discuss TrkB-postsynaptic density protein-95 coupling as a promising strategy to magnify brain-derived neurotrophic factor signaling towards the development of novel therapeutics for specific neurological disorders.A reduction of TrkB signaling has been observed in neurodegenerative disorders,such as Alzheimer's disease and Huntington's disease,and enhancement of postsynaptic density protein-95 association with TrkB signaling could mitigate the observed deficiency of neuronal connectivity in schizophrenia and depression.Treatment with brain-derived neurotrophic factor is problematic,due to poor pharmacokinetics,low brain penetration,and side effects resulting from activation of the p75 neurotrophin receptor or the truncated TrkB.T1 isoform.Although TrkB agonists and antibodies that activate TrkB are being intensively investigated,they cannot distinguish the multiple human TrkB splicing isoforms or cell type-specific functions.Targeting TrkB–postsynaptic density protein-95 coupling provides an alternative approach to specifically boost TrkB signaling at localized synaptic sites versus global stimulation that risks many adverse side effects.
文摘Alcohol use disorder(AUD)is a medical condition that impairs a person's ability to stop or manage their drinking in the face of negative social,occupational,or health consequences.AUD is defined by the National Institute on Alcohol Abuse and Alcoholism as a"severe problem".The central nervous system is the primary target of alcohol's adverse effects.It is crucial to identify various neurological disorders associated with AUD,including alcohol withdrawal syndrome,Wernicke-Korsakoff syndrome,Marchiafava-Bignami disease,dementia,and neuropathy.To gain a better understanding of the neurological environment of alcoholism and to shed light on the role of various neurotransmitters in the phenomenon of alcoholism.A comprehensive search of online databases,including PubMed,EMBASE,Web of Science,and Google Scholar,was conducted to identify relevant articles.Several neurotransmitters(dopamine,gammaaminobutyric acid,serotonin,and glutamate)have been linked to alcoholism due to a brain imbalance.Alcoholism appears to be a complex genetic disorder,with variations in many genes influencing risk.Some of these genes have been identified,including two alcohol metabolism genes,alcohol dehydrogenase 1B gene and aldehyde dehydrogenase 2 gene,which have the most potent known effects on the risk of alcoholism.Neuronal degeneration and demyelination in people with AUD may be caused by neuronal damage,nutrient deficiencies,and blood brain barrier dysfunction;however,the underlying mechanism is unknown.This review will provide a detailed overview of the neurobiology of alcohol addiction,followed by recent studies published in the genetics of alcohol addiction,molecular mechanism and detailed information on the various acute and chronic neurological manifestations of alcoholism for the Future research.
文摘A range of neurodegenerative disorders,collectively termed parkinsonian disorders,present with a complex array of both motor and non-motor symptoms.Included in this group are Parkinson’s disease(PD),dementia with Lewy bodies(DLB),multiple system atrophy(MSA),corticobasal syndrome(CBS),and progressive supranuclear palsy(PSP).These disorders are differentiated neuropathologically by their dominant protein pathologies involvingα-synuclein(α-syn)and/or tau,the types of brain cells affected,such as neurons,oligodendroglia,and astrocytes,and the specific brain regions involved(Tolosa et al.,2021).
基金Supported by the National College Students’Innovative Entrepreneurial Training Plan Program,No.202410403067the Innovation and Entrepreneurship Training Program for College Students in Jiangxi Province,No.S202410403035.
文摘BACKGROUND Bipolar disorder(BD)is a severe mental illness characterized by significant mood swings.Effective drug treatment modalities are crucial for managing BD.AIM To analyze the current status and future trends of global research on BD drug treatment over the last decade.METHODS The Web of Science Core Collection database spanning from 2015 to 2024 was utilized to retrieve literature related to BD drug treatment.A total of 2624 articles were extracted.Data visualization and analysis were conducted using CiteSpace,VOSviewer,Pajek,Scimago Graphica,and R-studio bibliometrix to identify RESULTS The United States,China,and the United Kingdom have made the most significant contributions to research on BD drug treatment and formed notable research collaboration networks.The University of Pittsburgh,Massachusetts General Hospital,and the University of Michigan have been identified as the major research institutions in this field.The Journal of Affective Disorders is the most influential journal.A keyword analysis revealed research hotspots related to clinical symptoms,drug efficacy,and genetic mechanisms.A citation analysis identified the management guidelines published by Yatham et al in 2018 as the most cited paper.CONCLUSION This study provides a detailed overview of the field of BD drug treatment,highlighting key contributors,research hotspots,and future directions.The study findings can be employed as a reference for future research and policymaking,which may enable further development and optimization of BD pharmacotherapy.
文摘Stromal vascular fraction(SVF)is a complex mixture derived from adipose tissue,consisting of a variety of cells.Due to its potential for tissue repair,immunomod-ulation,and support of angiogenesis,SVF represents a promising frontier in regenerative medicine and offers potential therapy for a range of disease condi-tions.In this article,we delve into the mechanisms through which SVF exerts its effects and explore its potential applications in treating both male and female reproductive disorders,including erectile dysfunction,testicular injury,stress urinary incontinence and intrauterine adhesion.
基金supported by the National Key Research and Development Program of China(2018YFC1315301).
文摘Objective To analyze the prevalence and burden of headache disorders in China and its provinces from 1990 to 2021.Methods Using data from the Global Burden of Disease Study(GBD)2021,the number of prevalent cases,prevalence rate,disability-adjusted life years(DALYs),and age-standardized DALY rates were analyzed by sex,age group,and province for headache disorders and their subtypes(migraine and tension-type headache[TTH])between 1990 and 2021.Percentage changes during this period were also estimated.Results In 2021,approximately 426 million individuals in China were affected by headache disorders,with an age-standardized prevalence rate of 27,582.61/100,000.The age-standardized DALY rate for all headache disorders was 487.15/100,000.Between 1990 and 2021,the number of prevalent cases increased by 37.78%,while the prevalence of all headache disorders,migraine,and TTH increased by 6.92%,7.57%,and 7.86%,respectively.The highest prevalence was observed in the 30-34 age group(39,520.60/100,000).Migraine accounted for a larger proportion of DALYs attributable to headache disorders,whereas TTH has a greater impact on its prevalence.In 2021,the highest age-standardized DALY rates for headache disorders were observed in Heilongjiang(617.85/100,000)and Shanghai(542.86/100,000).Conclusion The prevalence of headache disorders is increasing in China.Effective health education,improve diagnosis and treatment are essential,particularly for middle-aged working populations and women of childbearing age.
文摘Neuromyelitis optica spectrum disorders are neuroinflammatory demyelinating disorders that lead to permanent visual loss and motor dysfunction.To date,no effective treatment exists as the exact causative mechanism remains unknown.Therefore,experimental models of neuromyelitis optica spectrum disorders are essential for exploring its pathogenesis and in screening for therapeutic targets.Since most patients with neuromyelitis optica spectrum disorders are seropositive for IgG autoantibodies against aquaporin-4,which is highly expressed on the membrane of astrocyte endfeet,most current experimental models are based on aquaporin-4-IgG that initially targets astrocytes.These experimental models have successfully simulated many pathological features of neuromyelitis optica spectrum disorders,such as aquaporin-4 loss,astrocytopathy,granulocyte and macrophage infiltration,complement activation,demyelination,and neuronal loss;however,they do not fully capture the pathological process of human neuromyelitis optica spectrum disorders.In this review,we summarize the currently known pathogenic mechanisms and the development of associated experimental models in vitro,ex vivo,and in vivo for neuromyelitis optica spectrum disorders,suggest potential pathogenic mechanisms for further investigation,and provide guidance on experimental model choices.In addition,this review summarizes the latest information on pathologies and therapies for neuromyelitis optica spectrum disorders based on experimental models of aquaporin-4-IgG-seropositive neuromyelitis optica spectrum disorders,offering further therapeutic targets and a theoretical basis for clinical trials.
文摘BACKGROUND Functional gastrointestinal disorders(FGIDs)in children present with chronic symptoms like abdominal pain,diarrhea,and constipation without identifiable structural abnormalities.These disorders are closely linked to gut-brain axis dysfunction,altered gut microbiota,and psychosocial stress,leading to psychia-tric comorbidities such as anxiety,depression,and behavioral issues.Under-standing this bidirectional relationship is crucial for developing effective,holistic management strategies that address physical and mental health.AIM To examine the psychiatric impacts of FGIDs in children,focusing on anxiety and depression and their association with other neurodevelopmental disorders of childhood,such as attention-deficit/hyperactivity disorder,emphasizing the role of the gut-brain axis,emotional dysregulation,and psychosocial stress.Key mechanisms explored include neurotransmitter dysregulation,microbiota imbalance,central sensitization,heightening stress reactivity,emotional dysregulation,and symptom perception.The review also evaluates the role of family dynamics and coping strategies in exacerbating FGID symptoms and contributing to psychiatric conditions.METHODS A narrative review was conducted using 328 studies sourced from PubMed,Scopus,and Google Scholar,covering research published over the past 20 years.Inclusion criteria focused on studies examining FGID diagnosis,gut-brain mechanisms,psychiatric comorbidities,and psychosocial factors in pediatric populations.FGIDs commonly affecting children,including functional constipation,abdominal pain,irritable bowel syndrome,gastroesophageal reflux,and cyclic vomiting syndrome,were analyzed concerning their psychological impacts.RESULTS The review highlights a strong connection between FGIDs and psychiatric symptoms,mediated by gut-brain axis dysfunction,dysregulated microbiota,and central sensitization.These physiological disruptions increase children’s vulnerability to anxiety and depression,while psychosocial factors-such as chronic stress,early-life trauma,maladaptive family dynamics,and ineffective coping strategies-intensify the cycle of gastrointestinal and emotional distress.CONCLUSION Effective management of FGIDs requires a biopsychosocial approach integrating medical,psychological,and dietary interventions.Parental education,early intervention,and multidisciplinary care coordination are critical in mitigating long-term psychological impacts and improving both gastrointestinal and mental health outcomes in children with FGIDs.
基金grant Fundamental Fund of National Science Research and Innovation Fund(NSRF)via Burapha University of Thailand(Grant number 52/2024).
文摘Background:People working outdoors in the Map Ta Phut pollution control area of Thailand require comprehen-sive health monitoring.In the past,studies have been done on the health effects of pollutants.However,there are few studies on musculoskeletal disorders(MSDs),and Thailand is struggling to meet the Sustainable Development Goals.Methods:This cross-sectional study examines access to health services and factors affecting MSDs among outdoor pollution workers(OPWs).The sample group includes OPWs,including local fisherman,street vendors,public car drivers,and traffic police.We studied 50 people from each of these groups,for a total of 200 people.Data were analyzed with inferential statistics using Chi-square test,McNemar test,and Univariate logistic regression.Results:The OPWs reported experiencing significantly more total MSDs pain than they did in the past(P<0.05).Factors affecting current MSDs pain,including occupation and working days per week,were significant(P<0.05).The street vendor group and public car driver group had(odds ratio[OR]=2.253,95%confidence interval[CI]:1.101 to 5.019)and(OR=2.681,95%CI:1.191 to 6.032)times higher risks of MSDs pain,respectively.OPWs who work>5 days per week had a(OR=1.464,95%CI:1.093 to 2.704)times higher risk of MSDs pain.52.7%of OPWs with MSDs,pain(n=110)had received an annual health check-up.In the past year,50.9%had minor illnesses and 21.8%had severe illnesses.OPWs receiving free treatment and visiting health service stations for no cost comprised 77.3%and 51.8%,respectively.60.9%used their right to receive treatment with universal health insurance cards.Conclusions:The study indicates that occupational groups with MSDs pain problems should exercise this right,according to the worker protection law.Local health agencies should organize activities or create accessible media to promote preventive medicine services,as many OPWs believe that health services can only be accessed when illness occurs.
文摘BACKGROUND Mild cognitive impairment(MCI)has a high risk of progression to Alzheimer’s disease.The disease is often accompanied by sleep disorders,and whether sleep disorders have an effect on brain function in patients with MCI is unclear.AIM To explore the near-infrared brain function characteristics of MCI with sleep disorders.METHODS A total of 120 patients with MCI(MCI group)and 50 healthy subjects(control group)were selected.All subjects underwent the functional near-infrared spec-troscopy test.Collect baseline data,Mini-Mental State Examination,Montreal Cognitive Assessment scale,fatigue severity scale(FSS)score,sleep parameter,and oxyhemoglobin(Oxy-Hb)concentration and peak time of functional near-infrared spectroscopy test during the task period.The relationship between Oxy-RESULTS Compared with the control group,the FSS score of the MCI group was higher(t=11.310),and the scores of Pittsburgh sleep quality index,sleep time,sleep efficiency,nocturnal sleep disturbance,and daytime dysfunction were higher(Z=-10.518,-10.368,-9.035,-10.661,-10.088).Subjective sleep quality and total sleep time scores were lower(Z=-11.592,-9.924).The sleep efficiency of the MCI group was lower,and the awakening frequency,rem sleep latency period,total sleep time,and oxygen desaturation index were higher(t=5.969,5.829,2.887,3.003,5.937).The Oxy-Hb concentration at T0,T1,and T2 in the MCI group was lower(t=14.940,11.280,5.721),and the peak time was higher(t=18.800,13.350,9.827).In MCI patients,the concentration of Oxy-Hb during T0 was negatively correlated with the scores of Pittsburgh sleep quality index,sleep time,total sleep time,and sleep efficiency(r=-0.611,-0.388,-0.563,-0.356).It was positively correlated with sleep efficiency and total sleep time(r=0.754,0.650),and negatively correlated with oxygen desaturation index(r=-0.561)and FSS score(r=-0.526).All comparisons were P<0.05.CONCLUSION Patients with MCI and sleep disorders have lower near-infrared brain function than normal people,which is related to sleep quality.Clinically,a comprehensive assessment of the near-infrared brain function of patients should be carried out to guide targeted treatment and improve curative effect.
基金supported by the National Natural Science Foundation of China,Nos.81901098(to TC),82201668(to HL)Fujian Provincial Health Technology Project,No.2021QNA072(to HL)。
文摘The central nervous system, information integration center of the body, is mainly composed of neurons and glial cells. The neuron is one of the most basic and important structural and functional units of the central nervous system, with sensory stimulation and excitation conduction functions. Astrocytes and microglia belong to the glial cell family, which is the main source of cytokines and represents the main defense system of the central nervous system. Nerve cells undergo neurotransmission or gliotransmission, which regulates neuronal activity via the ion channels, receptors, or transporters expressed on nerve cell membranes. Ion channels, composed of large transmembrane proteins, play crucial roles in maintaining nerve cell homeostasis. These channels are also important for control of the membrane potential and in the secretion of neurotransmitters. A variety of cellular functions and life activities, including functional regulation of the central nervous system, the generation and conduction of nerve excitation, the occurrence of receptor potential, heart pulsation, smooth muscle peristalsis, skeletal muscle contraction, and hormone secretion, are closely related to ion channels associated with passive transmembrane transport. Two types of ion channels in the central nervous system, potassium channels and calcium channels, are closely related to various neurological disorders, including Alzheimer's disease, Parkinson's disease, and epilepsy. Accordingly, various drugs that can affect these ion channels have been explored deeply to provide new directions for the treatment of these neurological disorders. In this review, we focus on the functions of potassium and calcium ion channels in different nerve cells and their involvement in neurological disorders such as Parkinson's disease, Alzheimer's disease, depression, epilepsy, autism, and rare disorders. We also describe several clinical drugs that target potassium or calcium channels in nerve cells and could be used to treat these disorders. We concluded that there are few clinical drugs that can improve the pathology these diseases by acting on potassium or calcium ions. Although a few novel ion-channelspecific modulators have been discovered, meaningful therapies have largely not yet been realized. The lack of target-specific drugs, their requirement to cross the blood–brain barrier, and their exact underlying mechanisms all need further attention. This review aims to explain the urgent problems that need research progress and provide comprehensive information aiming to arouse the research community's interest in the development of ion channel-targeting drugs and the identification of new therapeutic targets for that can increase the cure rate of nervous system diseases and reduce the occurrence of adverse reactions in other systems.
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.
基金Supported by the Central Funds Guiding the Local Science and Technology Development,No.202207AB110017Key Research and Development Program of Yunnan,No.202302AD080004+1 种基金Yunnan Academician and Expert Workstation,No.202205AF150023the Scientific and Technological Innovation Team in Kunming Medical University,No.CXTD202215.
文摘The complex pathophysiology and diverse manifestations of esophageal disorders pose challenges in clinical practice,particularly in achieving accurate early diagnosis and risk stratification.While traditional approaches rely heavily on subjective interpretations and variable expertise,machine learning(ML)has emerged as a transformative tool in healthcare.We conducted a comprehensive review of published literature on ML applications in esophageal diseases,analyzing technical approaches,validation methods,and clinical outcomes.ML demonstrates superior performance:In gastroesophageal reflux disease,ML models achieve 80%-90%accuracy in potential of hydrogen-impedance analysis and endoscopic grading;for Barrett’s esophagus,ML-based approaches show 88%-95% accuracy in invasive diagnostics and 77%-85% accuracy in non-invasive screening.In esophageal cancer,ML improves early detection and survival prediction by 6%-10% compared to traditional methods.Novel applications in achalasia and esophageal varices demonstrate promising results in automated diagnosis and risk stratification,with accuracy rates exceeding 85%.While challenges persist in data standardization,model interpretability,and clinical integration,emerging solutions in federated learning and explainable artificial intelligence offer promising pathways forward.The continued evolution of these technologies,coupled with rigorous validation and thoughtful implementation,may fundamentally transform our approach to esophageal disease management in the era of precision medicine.
基金supported by Warren Alpert Foundation and Houston Methodist Academic Institute Laboratory Operating Fund(to HLC).
文摘Rare neurological diseases,while individually are rare,collectively impact millions globally,leading to diverse and often severe neurological symptoms.Often attributed to genetic mutations that disrupt protein function or structure,understanding their genetic basis is crucial for accurate diagnosis and targeted therapies.To investigate the underlying pathogenesis of these conditions,researchers often use non-mammalian model organisms,such as Drosophila(fruit flies),which is valued for their genetic manipulability,cost-efficiency,and preservation of genes and biological functions across evolutionary time.Genetic tools available in Drosophila,including CRISPR-Cas9,offer a means to manipulate gene expression,allowing for a deep exploration of the genetic underpinnings of rare neurological diseases.Drosophila boasts a versatile genetic toolkit,rapid generation turnover,and ease of large-scale experimentation,making it an invaluable resource for identifying potential drug candidates.Researchers can expose flies carrying disease-associated mutations to various compounds,rapidly pinpointing promising therapeutic agents for further investigation in mammalian models and,ultimately,clinical trials.In this comprehensive review,we explore rare neurological diseases where fly research has significantly contributed to our understanding of their genetic basis,pathophysiology,and potential therapeutic implications.We discuss rare diseases associated with both neuron-expressed and glial-expressed genes.Specific cases include mutations in CDK19 resulting in epilepsy and developmental delay,mutations in TIAM1 leading to a neurodevelopmental disorder with seizures and language delay,and mutations in IRF2BPL causing seizures,a neurodevelopmental disorder with regression,loss of speech,and abnormal movements.And we explore mutations in EMC1 related to cerebellar atrophy,visual impairment,psychomotor retardation,and gain-of-function mutations in ACOX1 causing Mitchell syndrome.Loss-of-function mutations in ACOX1 result in ACOX1 deficiency,characterized by very-long-chain fatty acid accumulation and glial degeneration.Notably,this review highlights how modeling these diseases in Drosophila has provided valuable insights into their pathophysiology,offering a platform for the rapid identification of potential therapeutic interventions.Rare neurological diseases involve a wide range of expression systems,and sometimes common phenotypes can be found among different genes that cause abnormalities in neurons or glia.Furthermore,mutations within the same gene may result in varying functional outcomes,such as complete loss of function,partial loss of function,or gain-of-function mutations.The phenotypes observed in patients can differ significantly,underscoring the complexity of these conditions.In conclusion,Drosophila represents an indispensable and cost-effective tool for investigating rare neurological diseases.By facilitating the modeling of these conditions,Drosophila contributes to a deeper understanding of their genetic basis,pathophysiology,and potential therapies.This approach accelerates the discovery of promising drug candidates,ultimately benefiting patients affected by these complex and understudied diseases.
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The general objective of our study was to describe the clinical and epidemiological aspects of anxiety disorders. This was a retrospective descriptive cross-sectional study, lasting 5 years, from January 01, 2019 to December 31, 2023, on 225 patients seen in consultation for anxiety disorders in the department. The prevalence of anxiety disorders was 2.5% in consultation. The 20 - 29 age group was the most represented at 33.3%. Females were slightly represented at 55.1%, with a sex ratio of 1.2. The secondary level was the most affected, accounting for 36.4% of cases. Insomnia was the most frequent reason for consultation, accounting for 71.1% of cases. A larger general population study would be necessary to better assess the extent of anxiety disorders in Guinea.
文摘Nursing staff provides patient care in an occupational environment that often imposes challenges that affect significantly the musculoskeletal system.Work-related musculoskeletal disorders are common in nursing stuff and have a negative impact in their professional and daily activities.In the current editorial,the duties of nursing staff,the types of musculoskeletal disorders,the predis-posing factors(including factors related to professional tasks/ergonomics and to working schedules,psychological,social and individual factors)and their impact on working ability and quality of life nursing staff are summarized and pre-ventive measures are proposed.
