Over the past two decades, genome-wide association study(GWAS) has identified numerous genetic variants and loci associated with heritable diseases. With the gradual maturation and saturation of GWAS methodologies, transcriptome-wide association study(TWAS) offers a novel perspective by linkinggenetic phenotypes to gene expression levels. By integrating TWAS with other multi-omics analyses, researchers can gain a deeper understanding of heritable diseases. This article provides an overview of recent groundbreaking and representative TWAS methods and tools, analyzes their strengths and limitations, and discusses future trends in TWAS development.

Cervical spinal cord injury without fracture-dislocation (CSCIWFD) is referred to as a special type of cervical spinal cord injury characterized by traumatic spinal cord dysfunction and no significant bony structural abnormalities on imagines. Duo to the high risk of missed diagnosis during the initial consultation, CSCIWFD may lead to progressive neurological deterioration or even complete paralysis, severely impacting patients′ prognosis. Currently, there are no established consensuses over the diagnosis and treatment of CSCIWFD, such as the lack of evidence-based standards for indications of non-surgical treatment and risk of secondary neurological injury, as well as debates over the optimal timing for surgical intervention and indications for different surgical approaches. To address these issues, the Spine Trauma Group of the Orthopedic Branch of the Chinese Medical Doctor Association organized experts in the relevant fields to formulate Diagnosis and treatment guideline for acute cervical spinal cord injury without fracture- dislocation in adults ( version 2025) . Based on evidence-based medicine and the principles of scientific rigor and clinical applicability, the guidelines proposed 11 recommendations covering terminology, diagnosis, evaluation treatment, and rehabilitation, etc., aiming to standardize the management of CSCIWFD.

Vertebral refracture following percutaneous vertebral augmentation (PVA) is commonly seen in elderly patients with osteoporotic thoracolumbar compression fractures (OTLCF). It can lead to recurrent pain, loss of vertebral height, progression of kyphosis, and even neurological dysfunction, significantly impairing patients′ quality of life. Current diagnosis and treatment face multiple challenges, including high misdiagnosis rate, difficulty in choosing between surgical and non-surgical treatment options, lack of standardized surgical protocols, interference from intralesional bone cement during procedures, inadequate stability of internal fixation in osteoporotic bone, and suboptimal compliance of anti-osteoporotic therapy. Establishing a standardized diagnostic and therapeutic framework is urgently needed. To standardize the management process and improve outcomes for vertebral refractures after PVA in elderly OTLCF patients, Spinal Trauma Group of the Orthopedic Branch of Chinese Medical Doctor Association organized experts in the field to develop Guideline for the diagnosis and treatment of vertebral refracture after percutaneous vertebral augmentation in elderly patients with osteoporotic thoracolumbar compression fractures ( version 2025), based on current literature and clinical experience, and adhering to principles of scientific rigor and clinical applicability. A total of 11 recommendations were proposed, encompassing diagnosis, treatment, and rehabilitation of vertebral refracture after PVA in elderly patients with OTLCF, aiming to provide a foundation for a standardized management.

Crohn's disease (CD) is a refractory and recurrent chronic inflammatory bowel disease with an unclear etiology. In addition to intestinal symptoms, the disease is often accompanied by various extraintestinal manifestations. Studies have found that abnormalities in central nervous system activity in CD patients are closely related to the brain-gut axis, which may be one of the reasons for the high incidence of adverse emotions such as anxiety and depression. Functional magnetic resonance imaging (fMRI) has been widely used in the field of neurogastroenterology due to its non-invasiveness, high spatial resolution, and whole-brain coverage. This article reviews the application and progress of fMRI in CD brain functional study, aiming to comprehensively analyze and integrate the impact of the disease on brain function and provide a reference for clinical diagnosis, treatment, and future research.

Crohn's disease (CD) is a refractory and recurrent chronic inflammatory bowel disease with an unclear etiology. In addition to intestinal symptoms, the disease is often accompanied by various extraintestinal manifestations. Studies have found that abnormalities in central nervous system activity in CD patients are closely related to the brain-gut axis, which may be one of the reasons for the high incidence of adverse emotions such as anxiety and depression. Functional magnetic resonance imaging (fMRI) has been widely used in the field of neurogastroenterology due to its non-invasiveness, high spatial resolution, and whole-brain coverage. This article reviews the application and progress of fMRI in CD brain functional study, aiming to comprehensively analyze and integrate the impact of the disease on brain function and provide a reference for clinical diagnosis, treatment, and future research.

Turning to critical illness is a common stage of various diseases and injuries before death. Patients usually have complex health conditions, while the treatment process involves a wide range of content, along with high requirements for doctor′s professionalism and multi-specialty teamwork, as well as a great demand for time-sensitive treatments. However, this is not matched with critical care professionals and the current state of medical care in China. Telemedicine, which shortens the distance of medical professionals and the gap of disease diagnosis and treatments in various regions through electronic information, can effectively solve the current problem. Therefore, there is an urgent need to develop a standardized, high-quality visualization telemedicine round system .Therefore, experts have been organized to search domestic and foreign literature on telemedicine round for critically ill patients and to form this consensus based on clinical experiences so as to further improve the level of critical care treatments in regions.

Objective To explore the changes in serum pro-inflammatory cytokine factor and their relationship with memory function in patients with chronic insomnia comorbid and depression(ICD).Methods A total of 40 ICD patients and 41 chronic insomnia disorder(CID)patients were recruited at the Clinic of Sleep Disorder,and concurrently 41 healthy individuals as controls(CON)were recruited during the same period.The Pittsburgh sleep quality index(PSQI)and 17-item Hamilton depression rating scale(HAMD-17)were used to assess the severity of insomnia and depression in the subjects,and the nine box maze was used to evaluate their memory function.Enzyme linked immunosorbent assay was used to detect the levels of serum tumor necrosis factor(TNF)-α,TNF-β,interleukin(IL)-1β,IL-6,and serum amyloid A(SAA),and the correlation between pro-inflammatory cytokine factor levels and cognitive function was analyzed.Results The HAMD and PSQI scores were significantly higher in ICD and CID groups than in CON[HAMD:19.0(14.0,22.0)vs.10.0(7.5,12.5)vs.2.0(1.0,4.0);PSQI:17(15,19)vs.15(13,16)vs.2(0,3);P<0.01]which was also higher in ICD group than in CID group(P<0.01).The number of errors in spatial reference memory(SRM)and spatial working memory(SWM)were higher in the ICD and CID groups than in CON[SRM:2.5(1.0,4.0),vs.1.0(0,3.0)vs.0(0,1.0);SWM:5.00(4.00,7.75)vs.4.00(2.00,5.00)vs.1.00(1.00,2.50);P<0.01].The number of errors were also higher in SRM and SWM in ICD group than in CID group(P<0.01).The serum levels of TNF-α,TNF-β,IL-1β,IL-6,and SAA were higher in ICD and CID groups than in CON(P<0.01),and the serum levels of TNF-β and IL-6 were also higher in ICD group than in the CID group(P<0.01).In the ICD group,the partial correlation analysis showed that TNF-α(r=0.394,P=0.021)and IL-1β(r=0.398,P=0.020)were positively correlated with the number of SRW errors,while TNF-β(r=0.381,P=0.026)and SAA(r=0.446,P=0.008)were positively correlated with the number of SWM errors.TNF-β were also positively correlated with the number of recognition memory errors(r=0.347,P=0.044).Conclusion ICD patients have memory impairment,which may relate to increased levels of pro-inflammatory cytokine factor in their serum.

Objective To explore the changes in serum pro-inflammatory cytokine factor and their relationship with memory function in patients with chronic insomnia comorbid and depression(ICD).Methods A total of 40 ICD patients and 41 chronic insomnia disorder(CID)patients were recruited at the Clinic of Sleep Disorder,and concurrently 41 healthy individuals as controls(CON)were recruited during the same period.The Pittsburgh sleep quality index(PSQI)and 17-item Hamilton depression rating scale(HAMD-17)were used to assess the severity of insomnia and depression in the subjects,and the nine box maze was used to evaluate their memory function.Enzyme linked immunosorbent assay was used to detect the levels of serum tumor necrosis factor(TNF)-α,TNF-β,interleukin(IL)-1β,IL-6,and serum amyloid A(SAA),and the correlation between pro-inflammatory cytokine factor levels and cognitive function was analyzed.Results The HAMD and PSQI scores were significantly higher in ICD and CID groups than in CON[HAMD:19.0(14.0,22.0)vs.10.0(7.5,12.5)vs.2.0(1.0,4.0);PSQI:17(15,19)vs.15(13,16)vs.2(0,3);P<0.01]which was also higher in ICD group than in CID group(P<0.01).The number of errors in spatial reference memory(SRM)and spatial working memory(SWM)were higher in the ICD and CID groups than in CON[SRM:2.5(1.0,4.0),vs.1.0(0,3.0)vs.0(0,1.0);SWM:5.00(4.00,7.75)vs.4.00(2.00,5.00)vs.1.00(1.00,2.50);P<0.01].The number of errors were also higher in SRM and SWM in ICD group than in CID group(P<0.01).The serum levels of TNF-α,TNF-β,IL-1β,IL-6,and SAA were higher in ICD and CID groups than in CON(P<0.01),and the serum levels of TNF-β and IL-6 were also higher in ICD group than in the CID group(P<0.01).In the ICD group,the partial correlation analysis showed that TNF-α(r=0.394,P=0.021)and IL-1β(r=0.398,P=0.020)were positively correlated with the number of SRW errors,while TNF-β(r=0.381,P=0.026)and SAA(r=0.446,P=0.008)were positively correlated with the number of SWM errors.TNF-β were also positively correlated with the number of recognition memory errors(r=0.347,P=0.044).Conclusion ICD patients have memory impairment,which may relate to increased levels of pro-inflammatory cytokine factor in their serum.

Cervical spinal cord injury without fracture-dislocation (CSCIWFD) is referred to as a special type of cervical spinal cord injury characterized by traumatic spinal cord dysfunction and no significant bony structural abnormalities on imagines. Duo to the high risk of missed diagnosis during the initial consultation, CSCIWFD may lead to progressive neurological deterioration or even complete paralysis, severely impacting patients′ prognosis. Currently, there are no established consensuses over the diagnosis and treatment of CSCIWFD, such as the lack of evidence-based standards for indications of non-surgical treatment and risk of secondary neurological injury, as well as debates over the optimal timing for surgical intervention and indications for different surgical approaches. To address these issues, the Spine Trauma Group of the Orthopedic Branch of the Chinese Medical Doctor Association organized experts in the relevant fields to formulate Diagnosis and treatment guideline for acute cervical spinal cord injury without fracture- dislocation in adults ( version 2025) . Based on evidence-based medicine and the principles of scientific rigor and clinical applicability, the guidelines proposed 11 recommendations covering terminology, diagnosis, evaluation treatment, and rehabilitation, etc., aiming to standardize the management of CSCIWFD.

Vertebral refracture following percutaneous vertebral augmentation (PVA) is commonly seen in elderly patients with osteoporotic thoracolumbar compression fractures (OTLCF). It can lead to recurrent pain, loss of vertebral height, progression of kyphosis, and even neurological dysfunction, significantly impairing patients′ quality of life. Current diagnosis and treatment face multiple challenges, including high misdiagnosis rate, difficulty in choosing between surgical and non-surgical treatment options, lack of standardized surgical protocols, interference from intralesional bone cement during procedures, inadequate stability of internal fixation in osteoporotic bone, and suboptimal compliance of anti-osteoporotic therapy. Establishing a standardized diagnostic and therapeutic framework is urgently needed. To standardize the management process and improve outcomes for vertebral refractures after PVA in elderly OTLCF patients, Spinal Trauma Group of the Orthopedic Branch of Chinese Medical Doctor Association organized experts in the field to develop Guideline for the diagnosis and treatment of vertebral refracture after percutaneous vertebral augmentation in elderly patients with osteoporotic thoracolumbar compression fractures ( version 2025), based on current literature and clinical experience, and adhering to principles of scientific rigor and clinical applicability. A total of 11 recommendations were proposed, encompassing diagnosis, treatment, and rehabilitation of vertebral refracture after PVA in elderly patients with OTLCF, aiming to provide a foundation for a standardized management.