Abstract:Objective To explore the safety and feasibility of superficial temporal artery(STA)-middle cerebral artery(MCA)bypass combined encepho-dural-myo-pericranio-synangiosis(EDMPS)in the treatment of moyamoya disease(MMD)in preschool children(≤6 years old).Methods The clinical data of 18 preschool children with MMD treated with STA-MCA+EDMPS surgery at Aviation General Hospital from January 2017 to December 2019 were analyzed.Postoperative one week CTA 3D reconstruction and CT perfusion(CTP)were performed to evaluate the scope of craniotomy,the patency of bypass vessels and improvement of ischemic cerebral tissue perfusion.Postoperative 6 months CT or MRI was performed to evaluate the new ischemic stroke or intracerebral hemorrhage,and CTA or DSA was performed 12 months after the operation to evaluate the patency of bypass vessels.The modified Rankin Scale(mRS)was used to evaluate the patients'neurological recovery.Results The surgeries on 31 hemispheres of 18 patients were successfully completed.Postoperative one week CTA showed that the bypass vessel was unobstructed.Postoperative one week MRI of one case(Case 9)showed asymptomatic small-area cerebral infarction.All 4 patients who had transient ishchemic attack(TIA)symptoms before surgery had their symptoms disappear after surgery.Only one case(Case 3)developed TIA.One case(Case 17)developed contralateral new ischemic stroke while waiting for contralateral surgery after the first postoperative operation(3-6 months).The follow-up time of 18 patients was(57.28±13.32)months.The new ischemic stroke or intracerebral hemorrhage was no observed in postoperative 6 months.Postoperative 12 months CTA or DSA showed that the STA-MCA bypass unobstructed in 26 sides of 13 patients and not visualized in 5 sides of 5 patients.Collateral vessels due to indirect revascularization were visible in all 18 patients.By the end of the follow-up,the median mRS score was 1.00(0.25,1.75).None of the children patients presented with ischemic or hemorrhagic stroke events,cerebral hyperperfusion syndrome(CHS),TIA,epileptic seizure,cognitive dysfunction or poor incision healing.Conclusions Using STA-MCA+EDMPS to treat preschool children with MMD can not only quickly improve the blood supply of ischemic brain tissue,but also achieve a larger range of indirect revascularization.It is safe and feasible,and has good long-term follow-up results.

Abstract:Supratentorial and infratentorial combined injuries is a rare but particularly type of severe traumatic brain injury(sTBI),characterized by high rates of morbidity and mortality.The injury spans the tentorium of cerebellum,involving key structures such as the supratentorial cerebral hemispheres,the infratentorial cerebellum and brain stem.Its pathophysiological mechanism is complex,progression is rapid,and diagnosis and treatment are extremely challenging.Currently,there is no unified clinical consensus established for its management,either domestically or internationally.This article systematically reviews recent research advances in the pathophysiological basis,injury characteristics,clinical manifestations,diagnostic evaluation,treatment strategies,and perioperative management of supratentorial and infratentorial combined injuries,aiming to provide a basis for clinical diagnosis and treatment.

Abstract:The emotional disorders after traumatic brain injury(TBI)are significant sequelae that affect patient rehabilitation and quality of life.Clinical manifestations primarily include depression,anxiety,and cognitive dysfunction,with mechanisms involving brain structural and functional changes.Functional neuroimaging techniques provide key biological evidence to unveil the pathophysiological mechanisms.Currently treatments focus on medication,psychological interventions,and neuroregulatory technologies,while interdisciplinary comprehensive treatment strategies can significantly improve symptoms.This article aims to conduct a review on the epidemiology,clinical manifestations,pathogenesis,diagnosis and treatment of emotional disorders after TBI,and prospect the future development directions,so as to promote the optimization and innovation of diagnosis and treatment strategies.

Abstract:Objective To analyze the relationship between lymphocyte to high-density lipoprotein cholesterol ratio(LHR)and 28 d all-cause mortality after admission in moderate-severe traumatic brain injury(TBI)patients,and evaluate the predictive value of indicator for mortality risk in moderate-severe TBI patients.Methods Clinical data and initial LHR after admission of total 163 patients with moderate-severe TBI,who were first diagnosed at The First Affiliated Hospital of Zhengzhou University between January 1,2020 and August 31,2024,were collected.Univariate and multivariate stepwise Cox proportional hazards regression analyses were used to identify the influencing factors for 28 d all-cause mortality after admission in moderate-severe TBI patients.The predictive value of LHR was further validated by plotting receiver operating characteristic(ROC)curve and calculating the area under the curve(AUC).Results By the 28 d after admission,128 patients(78.53%)survived,and 35 patients(21.47%)died.Multivariate stepwise Cox proportional hazards regression analysis:Model 1(unadjusted for any confounding factors),Model 2[adjusted for age,time from injury to admission,diabetes,and Glasgow Coma Scale(GCS)score at admission],and Model 3(further adjusted for all potential confounding factors such as sex,cause of injury,and hypertension)all showed that a lower LHR was a risk factor for increased 28 d all-cause mortality after admission in moderate-severe TBI patients(HR=0.028,95%CI:0.005-0.156,P=0.000;HR=0.048,95%CI:0.008-0.289,P=0.000;HR=0.032,95%CI:0.004-0.234,P=0.000).The predictive value of LHR was further validated using the ROC curve,with AUC of 0.767(95%CI:0.681-0.854,P=0.000).The optimal cutoff value was 0.460,with a sensitivity of 80.50%and a specificity of 62.90%.Conclusions The initial LHR after admission is a simple and easily accessible early predictor of 28 d all-cause mortality after admission in moderate-severe TBI patients.

Abstract:Objective To explore the clinical effect of external ventricular drainage combined with lumbar cistern drainage under intracranial pressure(ICP)monitoring in severe aneurysmal subarachnoid hemorrhage(SaSAH).Methods From March 2019 to March 2023,106 patients with SaSAH admitted to Department of Neurosurgical Intensive Care Unit of He'nan Provincial People's Hospital were randomly divided into ICP monitoring group(n=52)and without ICP monitoring group(n=54).The ICP monitoring group was treated with external ventricular drainage combined with lumbar cistern drainage under ICP monitoring,while without ICP monitoring group was treated with external ventricular drainage combined with lumbar cistern drainage under non-ICP monitoring.Cerebrospinal fluid drainage volume,the incidence of in-hospital and long-term complications were recorded.The modified Rankin Scale(mRS)and Glasgow Outcome Scale-Extended(GOS-E)were used to evaluate the neurological prognosis,and the good prognosis rate was calculated.Results The cerebrospinal fluid drainage volume between ICP monitoring group and without ICP monitoring group was statistically significant(F=59.843,P=0.000),and the cerebrospinal fluid drainage volume at different measurement times was also statistically significant(F=5.352,P=0.000),and there was interaction between treatment factors and measurement time(F=19.800,P=0.000).There was no significant difference of cerebrospinal fluid drainage volume between the 2 groups on the 1-3 d(P>0.05,for all),and the cerebrospinal fluid drainage volume of ICP monitoring group on the 4-7 d was lower than that of the without ICP monitoring group(P=0.000,for all).In without ICP monitoring group,postoperative cerebrospinal fluid drainage volume gradually decreased,with drainage on postoperative 4-7 d being lower than on 1 d(P=0.000,0.000,0.000,0.000),2 d(P=0.000,0.000,0.000,0.000)and 3 d(P=0.004,0.036,0.000,0.007).In ICP monitoring group,the incidence of cerebral vascular spasm(χ2=4.850,P=0.028),hydrocephalus(χ2=5.804,P=0.016),delayed cerebral infarction(χ2=6.722,P=0.010),brain hernia(χ2=5.681,P=0.017),renal failure(χ2=5.903,P=0.015),electrolyte disturbance(χ2=6.389,P=0.011)and shunt dependent hydrocephalus(χ2=6.286,P=0.012)were lower than without ICP monitoring group.At 6 months postoperatively,the ICP monitoring group had a lower mRS score(Z=-2.484,P=0.013)and a higher GOS-E score(Z=-3.018,P=0.003)than without ICP monitoring group.The good prognosis rate of ICP monitoring group was higher than that of without ICP monitoring group(χ2=5.403,P=0.020).Conclusions External ventricular drainage combined with lumbar cistern drainage under ICP monitoring for SaSAH can reduce the incidence of complications and improve the prognosis.

Abstract:Objective To screen the risk factors of aspiration of enteral nutrition support in patients with severe intracerebral hemorrhage.Methods A total of 187 patients with severe intracerebral hemorrhage diagnosed and treated in West China Hospital,Sichuan University from June 2022 to June 2023 were enrolled.All of them received enteral nutrition support and were divided into aspiration group(n=72)and non-aspiration group(n=115)according to whether aspiration occurred or not.Univariate and multivariate Logistic regression analyses were used to screen the risk factors of aspiration of enteral nutrition support in patients with severe intracerebral hemorrhage.Results Logistic regression analysis showed that previous history of aspiration(OR=1.441,95%CI:1.263-1.954;P=0.033),grade Ⅲ-Ⅴ of the postoperative Wada Drinking Water Test(OR=2.133,95%CI:1.051-4.312;P=0.000),nasal feeding tube diameter 3.50 mm(OR=1.861,95%CI:1.122-3.474;P=0.041)and gastric residual amount>100 ml(OR=2.582,95%CI:1.640-5.911;P=0.030)were risk factors for aspiration of enteral nutrition support in patients with severe intracerebral hemorrhage.Conclusions The patients with severe intracerebral hemorrhage with previous history of aspiration,grade Ⅲ-Ⅴ of the postoperative Wada Drinking Water Test,nasal feeding tube diameter 3.50 mm and gastric residual amount>100 ml were prone to aspiration of enteral nutrition support.

Abstract:Objective To retrospectively analyze the clinical,imaging,pathological and genotypic characteristics of one case of mitochondrial cytopathy with rare double mutation of mitochondrial gene.Methods and Results The 14-year-old male had double eyelid ptosis for 12 years,walking instability for 11 years,and visual acuity loss for 8 years.The clinical manifestations were external ophthalmoplegia,optic atrophy,pyramidal tract damage,and multiple peripheral neuropathy.Serum lactic acid was increased(3.30 mmol/L).The MRI showed abnormal hyperintensity in bilateral basal ganglia region.EMG showed multiple peripheral neuropathy(mainly motor nerve).The pathological examination of the biceps biopsy include HE staining,succiante dehydrogenase(SDH)staining,modified Gomori trichrome(MGT)staining and cytochrome C oxidase(COX)staining all showed no specific change.Genetic testing was performed for the presence of the m.9176T>C mutation in MT-ATP6 gene and the m.11778G>A mutation in MT-ND4 gene,which led to a definitive diagnosis of mitochondrial gene double mutation mitochondrial cytopathy consistent with the clinical manifestations of Leber's hereditary optic neuropathy(LHON)superimposed on Leigh's syndrome(LS).The mother of the patient had no clinical syptoms but also carried the double mutation of mitochondrial gene.Conclusions Mitochondrial cytopathy is rare and exhibit diverse clinical manifestations,which the diagnosis requires a combination of clinical manifestations,laboratory examination,muscle tissue biopsy,and genetic testing for confirmation.

Abstract:Over decades of development,the management of diagnosis and treatment in neurocritical care medicine has evolved from single-parameter monitoring to multimodal neuromonitoring.Through the integration of intracranial pressure(ICP),cerebral blood flow,brain function and other multi-parameter monitoring data,combined with artificial intelligence(AI)and big data model,it can realize the risk early warning of multiple complications.Digital and intelligent technologies are driving innovations in diagnosis and treatment.Although facing challenges such as difficult data standardization and model adaptation,it will continue to develop towards precision,individualization,digital intelligence and networking in the future.

Abstract:The incidence of hypothalamic-pituitary dysfunction in patients with severe traumatic brain injury(sTBI)reaches up to 40%.However,it is often masked by clinical manifestations similar to those of sTBI,leading to underdiagnosis and misdiagnosis,which adversely affects long-term prognosis and quality of life.Therefore,integration into multimodal neurocritical care is essential.During the acute phase(within 72 h post-injury),15%-20%of patients develop hyponatremia,and adrenal cortical dysfunction may also occur.In such cases,the determination of free cortisol holds greater diagnostic value.In the chronic phase(beyond 3 months post-injury),18%-37%of patients exhibit growth hormone(GH)deficiency and hypothalamic-pituitary-gonadal(HPG)axis dysfunction.Although serum insulin-like growth factor-1(IGF-1)levels are associated with cognitive function,they are prone to misdiagnosis,resulting in an average diagnostic delay of 14 months.Clinical management requires three major shifts:transitioning from ensuring patient survival in the acute phase to focusing on long-term prognosis and functional outcomes,moving from hormone replacement therapy toward neural repair,and evolving from a solely neurosurgical approach to a multidisciplinary integration involving neurocritical care,endocrinology and rehabilitation medicine.These transformations are crucial for improving survival rates and quality of life.

Abstract:Objective To investigate the differences in specific peripheral blood inflammatory markers between patients with acute ischemic stroke and healthy controls,exploring the changes in these markers and their clinical significance.Methods A total of 44 patients with acute ischemic stroke from January 2021 to January 2023 in Honghu City People's Hospital,and 29 healthy controls matched to the age and sex were enrolled.Blood inflammatory markers,including peripheral blood white blood cell count,neutrophil count,lymphocyte count,monocyte count,platelet count,platelet to lymphocyte ratio(PLR)and lymphocyte to monocyte ratio(LMR),were analyzed and compared between the 2 groups,and their associations with disease severity[National Institutes of Health Stroke Scale(NIHSS)at admission]were evaluated.Results Compared with healthy controls,the levels of neutrophil(t=2.644,P=0.010)and PLR(t=3.017,P=0.004)were elevated,while levels of lymphocyte(t=3.164,P=0.002)and LMR(t=3.416,P=0.001)were decreased in patients with acute ischemic stroke.Partial correlation analysis showed that peripheral blood PLR in patients with acute ischemic stroke was positively correlated with NIHSS score at admission(r=0.152,P=0.034),while LMR was negatively correlated with NIHSS score at admission(r=-0.154,P=0.033).Conclusions Elevated neutrophil and PLR,alongside decreased lymphocyte and LMR,were observed in acute ischemic stroke patients.These inflammatory markers correlate with disease severity and may aid in the assessment and prediction of disease progression.

Abstract:Traumatic brain injury(TBI)is associated with high rates of mortality and morbidity.Early changes include parenchymal damage,intracerebral hemorrhage,axonal injury,and so on,while secondary injuries that develop over time include cerebral edema,inflammation reaction,blood-brain barrier(BBB)disruption,oxidative stress,excitotoxicity,and mitochondrial or metabolic dysfunction.Among these,cerebral edema is the serious complication of TBI and is the primary contributor to poor clinical outcomes.The mechanisms underlying its development and potential treatments are major current research focuses.The treatment includes glucocorticoids,hypertonic saline or diuretic,as well as surgical treatment,but none can effectively alleviate the condition or improve the prognosis.This article reviews the key molecular mechanisms,pathological features and emerging therapies for cerebral edema to enhance clinical understanding of its role in TBI.Such insights are essential for improving both prevention and precision treatment strategies.

Abstract:Objective To investigate the predictive value of early serum phosphorus variability on the early prognosis of patients with moderate-to-severe traumatic brain injury(TBI).Methods The retrospective analysis was conducted on the clinical data of 84 patients with moderate-to-severe TBI who admitted to Shenzhen Second People's Hospital from June 2019 to June 2024.The serum phosphorus level within 7 d after admission was determined,and the serum phosphorous variability was calculated.Based on 28 d prognosis after TBI,the patients were divided into the survival group(n=70)and the death group(n=14).Univariate and multivariate Logistic regression analyses were conducted to screen the risk factors of early prognosis in patients with moderate-to-severe TBI.Receiver operating characteristic(ROC)curve was used to evaluate the predictive value of the serum phosphorus variability for early prognosis.Results Logistic regression analysis showed that the high serum phosphorus variability was the independent risk factor for 28 d mortality after injury in patients with moderate-to-severe TBI(OR=1.083,95%CI:1.013-1.157;P=0.019).ROC curve showed that the serum phosphorus variability had the significant predictive value for early prognosis,with an area under the curve(AUC)of 0.932(95%CI:0.877-0.986,P=0.000).At a cut-off value of 28.61%,the sensitivity was 100%and the specificity was 75.71%.Conclusions In patients with moderate-to-severe TBI,the early serum phosphorus variability demonstrates a strong predictive value for early mortality,with a higher early serum phosphorus variability associated with poorer early prognosis.

Abstract:Objective To evaluate the clinical efficacy of controlled decompression combined with craniotomy in the treatment of intracerebral hemorrhage after traumatic brain injury(TBI).Methods The study was conducted involving 60 patients with intracerebral hemorrhage after TBI admitted to The People's Hospital of Laibin from January 2023 to October 2024.All patients underwent controlled decompression combined with craniotomy under intracranial pressure(ICP)monitoring(ICP monitoring group,n=32)and traditional craniotomy combined with decompressive craniectomy(control group,n=28).The intraoperative bone flap replacement rate,perioperative period rebleeding,scalp exudate,intracranial infection,cerebral infarction incidence,and postoperative reoperation rate were recorded.The Glasgow Outcome Scale(GOS)was used to evaluate the prognosis at 6 months after TBI.Results Among the 60 patients,40(66.67%)achieved a favorable outcome(GOS score of 4-5),while 20(33.33%)had an unfavorable outcome(GOS score of 1-3)at 6 months after TBI.Compared with the control group,the ICP monitoring group exhibited a significantly higher intraoperative bone flap replacement rate(χ2=10.000,P=0.002)and higher GOS score at 6 months after TBI(Z=-3.206,P=0.001).Additionally,the incidences of perioperative period scalp exudate(adjusted χ2=3.871,P=0.049)and intracranial infection(Fisher's exact probability:P=0.020)were significantly lower in the ICP monitoring group than those in the control group.Conclusions Compared with traditional craniotomy combined with decompressive craniectomy,controlled decompression combined with craniotomy can increase the intraoperative bone flap replacement rate,reduce the risk of perioperative period complications such as scalp exudate and intracranial infection,and improve prognosis in patients with intracerebral hemorrhage after TBI.

Abstract:Pituitary dysfunction after traumatic brain injury(TBI)has increasingly attracted attention,with growth hormone deficiency(GHD)being the most common subtype.The use of growth hormone(GH)replacement therapy for patients with GHD after TBI has a positive impact on prognosis,including cognitive improvement,and so on.This article reviews the mechanisms of pathophysiology of GHD,the mechanisms of GH treatment for TBI and the current status of clinical application,and proposes future development directions to provide the theoretical guidance for the application of GH in the treatment of GHD after TBI.

Abstract:Objective To screen the influencing factors for first recanalization in patients with acute large artery occlusive cerebral infarction after Solitaire stent multi-mode endovascular treatment.Methods The 100 patients with acute large artery occlusive cerebral infarction who received Solitaire stent multi-mode endovascular treatment in The First People's Hospital of Qinzhou from January 2020 to June 2022 were enrolled.The modified Thrombolysis in Cerebral Infarction(mTICI)was used to evaluate the recanalization.The National Institutes of Health Stroke Scale(NIHSS)was used to evaluate the severity of neurological deficits,and the Alberta Stroke Program Early CT Score(ASPECT)was used to evaluate degree of cerebral ischemia before and 24 h after surgery.The modified Rankin Scale(mRS)was used to evaluate the neurological functional prognosis.Univariate and multivariate Logistic regression analyses were conducted to screen the influencing factors for the first recanalization.Results A total of 100 patients were divided into the first recanalization group(n=50)and the non-first recanalization group(n=50)according to whether they reached the mTICI blood flow grading standard(mTICI≥2b).Logistic regression analysis showed that middle cerebral artery occlusion(OR=0.233,95%CI:0.133-0.446;P=0.015),more collateral circulation compensation(OR=0.342,95%CI:0.203-0.538;P=0.024),the ASPECT score increased 24 h after surgery(OR=0.223,95%CI:0.078-0.707;P=0.000),the mRS score decreased 90 d after surgery(OR=0.539,95%CI:0.194-0.884;P=0.002)were protective factors for the first recanalization after Solitaire stent multi-mode endovascular treatment.The frequency of thrombectomy increased(OR=3.347,95%CI:1.118-5.576;P=0.002),prolonged time from onset to recanalization(OR=4.997,95%CI:1.798-14.947;P=0.009),the NIHSS score increased 24 h after the surgery(OR=3.038,95%CI:2.173-4.587;P=0.000)were risk factors for the non-first recanalization after Solitaire stent multi-mode endovascular treatment.Conclusions The first recanalization after Solitaire stent multi-mode endovascular treatment is affected by multiple factors.During the clinical diagnosis and treatment process,adjusting the intervention and treatment measures according to the relevant influencing factors is of great significance for improving the clinical efficacy.

Abstract:Objective To investigate the efficacy and safety of tirofiban application during emergency endovascular treatment in patients with acute ischemic stroke due to large artery atherosclerosis(LAA).Methods A total of 326 patients diagnosed with acute ischemic stroke due to LAA and subjected to emergency endovascular treatment at The First Affiliated Hospital of Xi'an Jiaotong University from January 2019 to June 2023 were enrolled.All patients underwent endovascular treatment and were divided into tirofiban group(n=183)and non-tirofiban group(n=143)based on intraoperative tirofiban application.The primary outcome was defined as the modified Rankin Scale(mRS)score of 0-2(functional independence)at 90 d postoperatively.Secondary outcomes were included mRS score of 0-1(excellent prognosis)at 90 d,the mRS score of 0-3(favorable prognosis)at 90 d,and modified Thrombolysis in Cerebral Infarction(mTICI)≥2b(successful recanalization).Security indicators were included the incidence of symptomatic intracranial hemorrhage(sICH)within 24 h postoperatively,the incidence of intracranial hemorrhage(ICH)within 24 h postoperatively,and the all-cause mortality at 90 d postoperatively.Results Regarding the primary outcome,no statistically significant difference was observed between the 2 groups in the proportion of patients achieving the mRS score of 0-2 at 90 d postoperatively(χ2=0.703,P=0.402).For secondary outcomes,there were no significant differences between the 2 groups in the following measures:mRS score of 0-1 at 90 d postoperatively(χ2=0.359,P=0.549),mRS score of 0-3 at 90 d postoperatively(χ2=2.513,P=0.113),mTICI≥2b postoperatively(χ2=0.763,P=0.384).In terms of security indicators,no statistically significant differences were observed between the 2 groups in the following:incidence of sICH(χ2=0.257,P=0.612),incidence of ICH(χ2=3.561,P=0.059)at 24 h postperatively,all-cause mortality at 90 d postoperatively(χ2=0.370,P=0.543).Logistic regression analysis showed that intraoperative tirofiban application was not an independent predictor of functional independence(mRS score of 0-2)at 90 d postoperatively.Conclusions In patients with acute ischemic stroke due to LAA,the tirofiban application during emergency endovascular treatment did not significantly improve clinical outcomes.However,it was not associated with an increased risk of ICH or mortality.

Abstract:Mild traumatic brain injury(mTBI)is the most common central nervous system disease.The diagnosis of conventional mTBI primarily relies on patient-reported symptoms and the subjective clinical judgment of clinical physician,which lacks objective diagnostic methods and easily contributed to neglect and result in poor clinical prognosis.However,with the continuous advancement of imaging technologies,emerging modalities such as susceptibility-weighted imaging(SWI),FLAIR,magnetic resonance spectrum(MRS),diffusion tensor imaging(DTI)and functional magnetic resonance imaging(fMRI),have provided new opportunities for the diagnosis,management and prognostic assessment of mTBI.These imaging technologies offer enhanced capabilities for detecting microscopic pathological alterations in brain tissue,facilitating the evaluation of treatment efficacy and long-term prognosis.This article systematically elaborates on the role of the aforementioned specialized or emerging imaging technologies in the diagnosis and prognostic assessment of mTBI,as well as their potential applications in future research,deepening clinical's understand of disease and providing a reference for clinical practice.

Abstract:The mechanism of secondary injury after tramatic brain injury(TBI)is related to inflammation reation,oxidative stress,inflammasome,and so on,and microglia are closely related to it.Microglia,as macrophage in the nervous system,participate in the basic physiological functions,immunological reaction of the nervous system,and has been confirmed to play a role in TBI.This review integrates numerous recent literature,systematically summarizing the role and mechanism of microglia in TBI,and provides an outlook for future research,aiming to offer research insights and directions for targeted treatment of TBI.

Abstract:Limbic-predominant age-related TDP-43 encephalopathy(LATE)is a common neurodegenerative disease primarily affecting the oldest old,characterized by pathological TDP-43 protein deposition.Pure LATE manifests as slowly progressive amnestic symptoms.Antemortem diagnosis of this disease is challenging,with definitive diagnosis heavily reliant on postmortem pathological examination.Consequently,research into treatments for this disease has lagged behind.This review aims to summarize recent advances in the clinical manifestations,pathological characteristic and biomarkers of LATE,with the goal of enhancing understanding of the disease.

Abstract:Objective To summarize the clinical,electrophysiological and genetic characteristics of a pedigree with myotonic dystrophy(DM).Methods and Results The 25-year-old male proband exhibited an occult onset,characterized by a distinctive"hatchet face"and alopecia,limb muscle weakness,amyotrophy,and damages of various systems,including the endocrine system and heart damage.Notably,the third aunt,the fourth uncle and the first brother of proband also exhibited similar clinical symptoms.Gene detection revealed both the proband,his aunt and his cousin had CTG repeats exceeding 100 times in the DMPK gene.Electromyography(EMG)studies conducted on the proband,his aunt and his cousin showed the coexistence of myotonic potential and myogenic damage.In the proband,the amplitude of the motor nerve conduction velocity of the left common peroneal nerve was decreased with a slight reduction in velocity,while the sensory nerve conduction velocity was also slowed.The proband,his aunt and his cousin were diagnosed with myotonic dystrophy type 1(MD1).It was evident that the pedigree has myotonic dystrophy.Conclusions Myotonic dystrophy is a rare autosomal dominant inheritance disorder characterized by myasthenia,myotonia and amyotrophy,which affects multiple systems.The clinical manifestations of this disease are diverse and relatively uncommon.In clinical practice,it is crucial to pay attention to the patient's family history,clinical signs and electrophysiological data,with particular emphasis on the identification of myotonic potential.Gene detection is of great significance for the diagnosis and differential diagnosis of myotonic dystrophy.