综述
心血管疾病是导致我国居民死亡的首要原因。在2006—2019年间,我国每年因心血管疾病死亡的人数从215万人增加到328万人。斑马鱼因个体小、成本低廉、体外发育、身体透明、基因组与人类高度同源等特点,近年来被广泛应用于医学研究。斑马鱼模型有利于推动心血管疾病领域的基础性研究。该文通过对前期研究进行综述,重点介绍了斑马鱼模型在心血管疾病中基因筛选、心脏再生、药物筛选、毒性评估等方面的研究进展。
Cardiovascular disease is the leading cause of death in China.Between 2006 and 2019,the annual number of deaths due to cardiovascular diseases increased from 2.15 million to 3.28 million.Zebrafish has been widely used in medical research in recent years because of its small individual size,low cost,in vitro development,transparent body and high homology of genome with human.The zebrafish model is conducive to promoting basic research in the field of cardiovascular disease.Based on the review of previous studies,this paper focuses on the research progress of zebrafish model in gene screening,cardiac regeneration,drug screening,toxicity assessment and other aspects of cardiovascular diseases.
专家述评
胶质瘤是颅内最常见的原发性恶性肿瘤,其分级对患者治疗方式的选择和预后至关重要。尽管目前组织病理学仍是其最为可靠的分级手段,但需通过有创性手术以获取组织样本,存在一定的风险。相较之下,磁共振成像(MRI)作为一种非侵入性影像诊断工具,在胶质瘤分级中发挥着不可或缺的作用。然而,传统MRI评估受限于医师个体主观性强和可重复性差的问题,一定程度上影响了准确的分级结果。近年来,影像组学技术的崭露头角为解决上述难题开辟了新视角,通过高通量提取影像数据特征捕捉并量化肿瘤的影像学表现,避免因主观因素而导致的不确定性,协助医师更准确地评估肿瘤的恶性程度。本文对近五年来MRI影像组学在胶质瘤术前分级预测方面的相关研究进行了简要综述,旨在为相关领域研究者提供有益的参考和借鉴,以推动MRI影像组学在临床实践中的应用。
Glioma is the most common primary malignant brain tumor,and its grading is crucial for treatment decisions and prognosis.Currently,histopathology remains the gold standard for grading,but it requires invasive procedures and carries inherent risks.In contrast,magnetic resonance imaging(MRI),a non-invasive diagnostic tool,plays an indispensable role in glioma grading.However,traditional MRI assessment is hampered by interobserver subjectivity and limited repeatability,which compromise grading accuracy.In recent years,radiomics,a burgeoning field,has offered a promising solution to address these challenges.By extracting high-dimensional imaging data features,radiomics enables the quantification of tumor radiological characteristics and elimination of subjectivity-related discrepancies.This technology assists clinicians in more precisely assessing the malignancy of gliomas.This article summarizes relevant studies in the past five years on the application of MRI radiomics in preoperative glioma grading,aiming to provide valuable insights and guidance to researchers in the field and promote the clinician implementation of MRI radiomics.
护理研究
目的 探讨系统化护理流程干预对脑出血患者急救效果及预后的影响。方法 采用回顾性分析的方法,选取2022年2月—2023年2月新乡医学院第三附属医院急诊收治的210例脑出血患者,将2022年2月—2022年8月采取常规护理干预的105例患者作为常规组,将2022年9月—2023年2月采取系统化护理流程干预的105例患者作为研究组。对比两组患者抢救效率、急救效果、并发症发生率、预后水平、护理满意度情况。结果 研究组患者抢救总时间、会诊至确诊、分诊至会诊、接诊至分诊以及出诊反应时间短于常规组(P<0.05);研究组急救总有效率高于常规组,并发症发生率低于常规组(P<0.05);出院1个月、3个月后,两组患者神经功能缺损量表(NIHSS)评分均降低,简易智能状态检查量表(MMSE)评分升高,研究组变化幅度更大(P<0.05);研究组患者护理满意度高于常规组(P<0.05)。结论 针对脑出血患者在急救过程中采取系统化护理流程干预能够提升患者的抢救效率和急救效果,并发症发生率低,改善患者的神经功能缺损情况,提升预后水平,且患者满意度较高。
Objective To explore the impact of systematic nursing process intervention on the emergency response and prognosis of patients with cerebral hemorrhage.Methods By retrospective analysis,210 patients with cerebral hemorrhage admitted to the emergency department of the Third Affiliated Hospital of Xinxiang Medical College from February 2022 to February 2023,105 patients with routine nursing intervention from February 2022 to August 2022 were selected as the routine group,and 105 patients with systematic nursing process intervention from September 2022 to February 2023 were selected as the study group.The rescue efficiency,first aid effect,complication rate,prognosis levels and nursing satisfaction of the two groups were compared.Results The total rescue time,consultation to diagnosis,triage to consultation,reception to triage and the response time to visit in the study group were significantly lower(P<0.05).The total emergency response rate of the study group was higher than that of the conventional group,and the incidence of complications was significantly lower(P<0.05).One month and 3 months after discharge,NIHSS score decreased in both groups,MMSE score increased,and the change range was greater in the study group(P<0.05).The nursing satisfaction of the study group was significantly higher(P<0.05).Conclusions For patients with cerebral hemorrhage,systematic nursing process intervention in the first aid process can improve the rescue efficiency and first aid effect of patients,reduce the incidence of complications,improve the neurological function defect of patients,improve the prognosis level,and the patient satisfaction is higher.
护理研究
目的 探讨以整合照护理念为基础的综合干预体系对稳定性冠心病患者衰弱的影响。方法 选择2021年8月—2022年6月在驻马店市中医院诊治的老年稳定性冠心病患者78例,根据1∶1随机数字表法分为两组,每组各39例。常规组给予常规护理,整合组在常规组护理的基础上给予以整合照护理念为基础的综合干预体系,记录两组患者的预后情况。结果 两组患者在护理3个月后的平衡测试评分、座椅站立测试评分均低于护理前,整合组护理3个月后的平衡测试评分、座椅站立测试评分与常规组相比也降低(P<0.05)。整合组护理3个月后的躯体、心理、社会、精神等维度的生活质量评分均高于常规组(P<0.05)。整合组随访1年的靶血管重建、心肌梗死、心源性死亡、冠状动脉再狭窄等主要心血管事件不良事件发生率为5.13%,常规组为25.64%,整合组低于常规组(P<0.05)。结论 以整合照护理念为基础的综合干预体系能缓解老年稳定性冠心病患者的衰弱状况,改善患者的生活质量,降低主要心血管事件不良事件发生率。
Objective To explore and analyze the effects of a comprehensive intervention based on integrated care on the frailty of elderly stable coronary heart disease(CHD)patients.Methods From August 2021 to June 2022,78 cases of elderly stable CHD patients who were diagnosed and treated in Zhumadian City Hospital of Traditional Chinese Medicine were selected.According to a 1:1 random number table method,78 patients were divided into the integrated group and the traditional group,with 39 cases of each group.The traditional group was given routine care,while the integrated group was given a comprehensive intervention based on integrated care concepts on the basis of the traditional group's care,and the patients' prognosis was recorded.Results The balance test scores and chair stand test scores of both groups after 3 months of nursing care were lower than those before nursing care.The balance test scores and chair stand test scores of the integrated group after 3 months of nursing care were also significantly lower than those of the traditional group(P<0.05).After 3 months of nursing care,the quality of life scores in physical,psychological,social,and spiritual dimensions in the integrated group were significantly higher than those in the traditional group(P<0.05).The incidence of major cardiovascular adverse events such as cardiac death,myocardial infarction,target vessel reconstruction,and coronary artery restenosis during a one-year follow-up in the integrated group was 5.13%,compared to 25.64% in the traditional group.The integrated group was significantly lower than the traditional group(P<0.05).Conclusions The application of a comprehensive intervention based on integrated care concept in elderly stable CHD patients can alleviate frailty,improve quality of life,and reduce the incidence of major cardiovascular adverse events.
论著
目的 分析老年患者腰-硬联合麻醉术中给予不同剂量瑞马唑仑的有效性及安全性。方法 纳入2020年5月—2023年4月在武穴市第一人民医院手术需进行腰-硬联合麻醉的老年患者126例,随机分为低剂量组[42例,术中持续泵注2 μg/(kg·min)瑞马唑仑]、中剂量组[42例,术中持续泵注3 μg/(kg·min)瑞马唑仑]、高剂量组[42例,术中持续泵注4 μg/(kg·min)瑞马唑仑],评估患者麻醉前(T0)、麻醉给药5 min(T1)、15 min(T2)、30 min(T3)时镇静程度并记录生命体征指标,记录患者麻醉起效时间、阻滞完善时间,统计麻醉给药后恶心呕吐、低血压等不良反应发生情况。结果 三组患者T1、T2、T3时Ramsay评分较T0时均升高(P<0.05),中剂量组、高剂量组T2、T3时Ramsay评分高于低剂量组(P<0.05),高剂量组T2、T3时Ramsay评分高于中剂量组(P<0.05),低剂量、中剂量组T2、T3时平均动脉压、心率高于高剂量组(P<0.05);高剂量组、中剂量组麻醉起效时间、阻滞完善时间均短于低剂量组(P<0.05);低剂量组、中剂量组低氧血症、低血压等不良反应总发生率低于高剂量组(P<α,α=0.017)。结论 老年患者腰-硬联合麻醉术中给予3 μg/(kg·min)的瑞马唑仑效果较为理想,其镇痛作用优于2 μg/(kg·min),对生命体征的影响低于4 μg/(kg·min),不良反应较少,兼顾镇静作用与麻醉安全性。
Objective To analyze the effectiveness and safety of different doses of remimazolam in elderly patients with combined spinal-epidural anesthesia.Methods From May 2020 to April 2023,126 elderly patients who needed combined spinal-epidural anesthesia in Wuxue First People's Hospital were included and randomly divided into low-dose group[42 cases,continuous infusion of 2 μg/(kg·min)reimazolam during operation],medium-dose group[42 cases,continuous infusion of 3 μg/(kg·min)reimazolam during operation],and high-dose group[42 cases,continuous infusion of 4 μg/(kg·min)reimazolam during operation].The degree of sedation and vital signs were recorded at 5 minutes(T1),15 minutes(T2),and 30 minutes(T3)of administration,and the anesthesia effective time and block completion time were recorded,and the incidence of adverse reactions such as nausea,vomiting,and hypotension after anesthesia administration were recorded.Results The Ramsay scores at T1,T2 and T3 of the three groups were significantly higher than those at T0(P<0.05).The Ramsay scores of the middle-dose group and high-dose group were significantly higher than those of the low-dose group at T2 and T3(P<0.05).The Ramsay scores of the high-dose group were significantly higher than those of the middle-dose group at T2 and T3(P<0.05).The mean arterial pressure and heart rate of the low-dose group and the middle-dose group at T2 and T3 were higher than those of the high-dose group(P<0.05).The effective time of anesthesia and block completion time in the high-dose group and the middle-dose group were significantly shorter than those in the low-dose group(P<0.05).The total incidences of adverse reactions such as hypoxemia and hypotension in the low-dose group and the middle-dose group were significantly lower than those in the high-dose group(P<α,α=0.017).Conclusions The effect of 3 μg/(kg·min)remimazolam in elderly patients with spinal-epidural combined anesthesia is ideal,its analgesic effect is better than 2 μg/(kg·min),the impact on vital signs is less than 4 μg/(kg·min),with fewer adverse reactions,which is a balance between the sedative effect and the safety of anesthesia.
论著
目的 探讨重复经颅磁刺激应用于帕金森病失眠患者中的效果及对睡眠质量的影响。方法 选取2021年1月—2022年3月南阳南石医院神经内科收治的帕金森病失眠患者100例,按照随机数字表法均分为参照组(n=50)和研究组(n=50),参照组采用常规西药治疗,研究组在参照组基础上采用重复经颅磁刺激治疗,对比两组治疗效果、神经递质指标水平、帕金森症状表现及睡眠质量评分的差异。结果 研究组治疗总有效率98.00%(49/50)高于参照组82.00%(41/50),对比差异有统计学意义(P<0.05)。治疗后,研究组神经递质多巴胺及5-羟色胺水平分别为(6.84±0.62)、(22.75±0.59),均高于参照组,对比差异均有统计学意义(P<0.05)。治疗后,研究组帕金森病症状表现及睡眠质量总评分均低于参照组,对比差异均有统计学意义(P<0.05)。结论 重复经颅磁刺激应用到帕金森病失眠患者的治疗中,能提升疗效,明显改善患者睡眠质量和帕金森病症状。
Objective To investigate the effect of repetitive transcranial magnetic stimulation(rTMS)on Parkinson's insomnia and its influence on sleep quality.Methods A total of 100 Parkinson's patients with insomnia admitted to the Department of Neurology,Nanyang Nanshi Hospital from January 2021 to March 2022 were selected and divided into the reference group(n=50)and the study group(n=50)according to random number table method.The reference group was treated with conventional western medicine,and the study group was treated with rTMS on the basis of the reference group.The levels of neurotransmitters,symptoms of Parkinson's disease and sleep quality were compared.Results The effective rate of the study group was 98.00%(49/50),which was higher than 82.00%(41/50)of the reference group,with statistical significance(P<0.05).After treatment,the levels of dopamine and 5-hydroxytryptamine in the study group,(6.84±0.62)and(22.75±0.59),were higher than those in the reference group,and the comparison was statistically significant(P<0.05).After treatment,the total score of Parkinson's symptom and sleep quality in the study group were lower than those in the reference group,with statistical significance(P<0.05).Conclusions The application of rTMS in the treatment of Parkinson's patients with insomnia can improve the curative effect,significantly improve the sleep quality and symptoms of Parkinson's disease,and is worthy of further application and promotion.
论著
目的 分析早期活动康复对机械通气患儿肌力的影响,探讨影响肌力的相关因素。方法 采取回顾性研究,选择2021年4月—2023年4月医院收治的104例机械通气患儿临床资料,根据康复方法分为两组,其中采取常规康复训练的52例患儿为对照组,采取早期活动康复的52例患儿为观察组。两组均连续干预至出院,比较两组患儿的机械通气、住ICU、总住院时间、不同时点(转出ICU时、出院时、出院1个月)的肌力及Barthel日常生活能力(Barthel)评分;参照《中国重症肌无力诊断和治疗指南(2015年简版)》中诊断标准,评估机械通气患儿获得性肌无力(AW)发生情况。统计并比较两组基线资料,采用二元Logistic回归分析机械通气患儿AW发生的影响因素。结果 观察组的机械通气、住ICU及总住院时间[(7.28±2.47)d、(15.27±3.64)d、(27.08±5.68)d]均短于对照组[(10.64±3.39)d、(17.74±3.55)d、(32.57±6.14)d](P<0.05);与转出ICU时、出院时相比,两组出院1个月时英国医学研究委员会(MRC)肌力评定法评分升高,且观察组转出ICU时、出院时MRC评分[(53.57±5.13)分、(56.84±2.16)分]均高于对照组[(50.13±4.57)分、(53.67±2.42)分],两组组间·时点交互比较差异有统计学意义(P<0.05);与转出ICU时、出院时相比,两组出院1个月时Barthel评分升高,且观察组转出ICU时、出院时Barthel评分[(65.03±12.47)分、(90.58±7.59)分]均高于对照组[(55.25±11.12)分、(84.13±9.62)分],两组组间·时点交互比较差异有统计学意义(P<0.05);住院期间104例机械通气患儿发生AW 31例,发生率29.81%,AW组机械通气时间、营养风险筛查量表2002(NRS)评分[(11.84±4.19)d、(3.07±1.04)分]高于非AW组[(8.18±2.26)d、(1.61±0.75)分],且有创机械通气模式、使用罗库溴铵患儿[77.42%(24/31)、32.26%(10/31)]占比均高于非AW组[53.42%(39/73)、13.70%(10/73)](P<0.05);二元Logistic回归分析结果显示,机械通气时间长、有创机械通气模式、使用罗库溴铵、NRS评分高是机械通气患儿AW发生的危险因素(OR>1,P<0.05)。结论 早期活动康复能够有效缩短机械通气患儿患儿通气时间及住院时间,改善肌力,提高生活自理能力,同时机械通气时间、创机械通气模式、使用罗库溴铵、NRS评分与机械通气患儿肌力下降有关。
Objective To analyze the effect of early mobilization and rehabilitation on muscle strength in children with mechanical ventilation and to explore the risk factors affecting muscle strength.Methods A retrospective study was conducted on 104 children with mechanical ventilation admitted to the hospital from April 2021 to April 2023.According to the rehabilitation methods,they were divided into two groups.The clinical data of children with routine rehabilitation training were included in the control group(52 cases),and the clinical data of children with early mobilization and rehabilitation were included in the observation group(52 cases).Both groups were continuously intervened until discharged.The mechanical ventilation time,ICU stay and total hospital stay were compared between the two groups.Muscle strength and self-care ability at different time points(transfer out of ICU,discharge,1 month after discharge),the incidence of acquired weakness(AW)in children with mechanical ventilation were evaluated according to the diagnostic criteria in the Chinese Guidelines for the Diagnosis and Treatment of Myasthenia Gravis. Baseline data was collected and compared between the two groups.Binary logistic regression was used to analyze the risk factors of AW in children with mechanical ventilation.Results The mechanical ventilation time,ICU and total hospitalization time in the observation group[(7.28±2.47)d,(15.27±3.64)d,(27.08±5.68)d] were shorter than those in the control group[(10.64±3.39)d,(17.74±3.55)d,(32.57±6.14)d](P<0.05).Compared with those at the time of transfer out of ICU and discharge,the Medical Research Council(MRC)scores of the two groups increased at 1 month after discharge,and the MRC scores of the observation group at the time of transfer out of ICU and discharge[(53.57±5.13),(56.84±2.16)] were higher than those of the control group[(50.13±4.57),(53.67±2.42)].There were significant differences between the two groups,time points and between groups · time points(P<0.05).Compared with those at the time of transferring out of ICU and at discharge,the Barthel scores of the two groups increased at 1 month after discharge,and the Barthel scores of the observation group at the time of transferring out of ICU and at discharge[(65.03±12.47),(90.58±7.59)] were higher than those of the control group[(55.25±11.12),(84.13±9.62)].There were significant differences in Barthel scores between the two groups,time points and groups · time points(P<0.05).AW occurred in 31 of 104 children with mechanical ventilation during hospitalization,with an incidence of 29.81%.The mechanical ventilation time and Nutritional Risk Screening(NRS)score in the AW group[(11.84±4.19)d,(3.07±1.04)] were higher than those in the non-AW group[(8.18±2.26)d,(1.61±0.75)].The proportion of children with invasive mechanical ventilation mode and the use of rocuronium[77.42%(24/31),32.26%(10/31)] were higher than those in the non-AW group[53.42%(39/73),13.70%(10/73)](P<0.05).Binary logistic regression analysis showed that long mechanical ventilation time,invasive mechanical ventilation,use of rocuronium and high NRS score were risk factors for AW in children with mechanical ventilation(OR>1,P<0.05).Conclusions Early mobilization and rehabilitation can effectively shorten the ventilation time and hospitalization time of patients with mechanical ventilation,improve muscle strength and improve the ability of self-reliance.At the same time,mechanical ventilation time,mechanical ventilation mode,use of rocuronium and NRS score are related to the decrease of muscle strength in children with mechanical ventilation.
论著
目的 研究磁共振成像(MRI)、经直肠超声(TRUS)结合血清前列腺特异性抗原(PSA)诊断前列腺癌诊断的应用价值。方法 收集2020年1月—2023年1月前在武穴市第一人民医院检查的疑似前列腺癌患者140例,均给予MRI、TRUS检查,并进行血清PSA水平检测,以患者手术病理结果为金标准,观察单一MRI、TRUS、血清PSA及联合诊断时漏诊、误诊情况,进行一致性分析,计算各项单一诊断及联合诊断的诊断灵敏度、特异度、准确率。结果 经手术病理结果证实为前列腺癌81例,非前列腺癌59例,前列腺癌患者血清PSA水平高于非前列腺癌患者(P<0.05);单一MRI、TRUS或PSA诊断前列腺癌与手术病理结果的一致性一般(Kappa=0.641、0.624、0.536,均P<0.001),联合诊断与手术病理结果的一致性较好(Kappa=0.906,P<0.001);联合诊断的灵敏度、特异度、准确率为高于单一MRI、TRUS、血清PSA及各诊断方式两两联合(P<α,α=0.007)。结论 前列腺癌诊断中单一MRI、TRUS、血清PSA诊断均存在漏诊、误诊风险,联合诊断可弥补单一诊断的不足,提高前列腺癌患者的诊断准确率。
Objective To study the application value of magnetic resonance imaging(MRI),transrectal ultrasound(TRUS)combined with serum prostate-specific antigen(PSA)in the diagnosis of prostate cancer.Methods A total of 140 patients with suspected prostate cancer who were examined at Wuxue First People's Hospital from January 2020 to January 2023 were enrolled.MRI and TRUS examinations were performed,and serum PSA levels were tested.The surgical pathology results of the patients were used as the gold standard.The missed diagnosis and misdiagnosis in single MRI,TRUS,serum PSA and combined diagnosis were observed,consistency was analyzed,and the diagnostic sensitivity,specificity,and accuracy of each single diagnosis and combined diagnosis were calculated.Results There were 81 cases of prostate cancer and 59 cases of non-prostate cancer confirmed by surgical pathology results.The serum PSA level of prostate cancer patients was higher than that of non-prostate cancer patients(P<0.05).The difference between the diagnosis of prostate cancer by single MRI,TRUS or PSA and the results of surgical pathology was with general consistency(Kappa=0.641,0.624,0.536,all P<0.001),and the consistency of combined diagnosis and surgical pathology results was good(Kappa=0.906,P<0.001).The sensitivity,specificity,and accuracy of combined diagnosis were higher than single MRI,TRUS,serum PSA and the combination of two diagnostic methods(P<α,α=0.007).Conclusions In the diagnosis of prostate cancer,single MRI,TRUS and serum PSA diagnosis all have risks of missed diagnosis and misdiagnosis.Combined diagnosis can make up for the shortcomings of single diagnosis and improve the diagnostic accuracy of prostate cancer.
论著
目的 检验婴儿孤独症观察量表中文版(AOSI)临床应用的灵敏度与特异度,评价其临床应用效果。方法 随机抽取1岁时曾在清远市妇幼保健院行AOSI评估,于2~3岁时诊断为孤独症谱系障碍(ASD)的48例患儿为ASD组,诊断为正常发展的46例幼儿作为对照组。比较两组患儿的18个条目得分和总分,采用受试者操作特征(ROC)曲线计算AOSI的特异度、灵敏度、阳性预测值与阴性预测值,并判断AOSI的最佳诊断(阳性)分界值;分析AOSI评估结果与《精神障碍诊断与统计手册(第5版)》(DSM-5)中ASD诊断标准的一致性。结果 两组研究对象性别、年龄比较差异无统计学意义(P>0.05)。ASD组各条目得分和总分均高于对照组,且差异具有统计学意义(P<0.01)。AOSI的曲线下面积(AUC)为1.00(P<0.01),95%置信区间为(1.00,1.00)。不同阳性分界线的灵敏度、特异度、阳性预测值、阴性预测值及一致性相比较,当约登指数等于1.00时AOSI的最佳诊断(阳性截断值)界线为9分时,其上述值均为1.00。AOSI评估结果与DSM-5中ASD的诊断标准完全相一致(Kappa=1,P<0.01)。结论 AOSI应用于评估1岁的婴儿,当取9分为诊断界值时,具有高度的灵敏度与特异度,能较好地预测该婴儿在2~3岁时是否患ASD;AOSI是婴儿期ASD筛查的重要工具,其评估结果可作为ASD高危儿早期干预的证据和ASD的辅助诊断工具,适合于临床推广应用。
Objective To test the sensitivity and specificity of the Chinese version of the Autism Observation Scale for Infants(AOSI)in clinical application and evaluate its clinical application effect.Methods Forty-eight children with autism spectrum disorder(ASD)diagnosed at the age of 2 to 3 years who had undergone AOSI evaluation in Qingyuan Maternal and Child Health Hospital at the age of 1 year(2021)were randomly selected as the ASD group,and 46 children with normal development were randomly selected as the control group.The scores of 18 items and total scores of the two groups of subjects were compared.The specificity,sensitivity,positive predictive value and negative predictive value of AOSI were calculated using the receiver operating characteristic curve(ROC),and the best diagnostic(positive)cut-off value of AOSI was confirmed.The consistency of AOSI evaluation results with the ASD diagnostic criteria in DSM-5 were compared.Results There was no statistically significant difference in genders or age between two groups(P>0.05).The scores of each item and total scores in the ASD group were significantly higher than those in the control group,and the difference was statistically significant(P<0.01).The area under the curve of AOSI(AUC=1.00,P<0.01)had a 95% confidence interval of(1.00,1.00).Comparing the sensitivity,specificity,positive predictive value,negative predictive value and consistency of different positive boundary points,when the Youden index was equal to 1.00,the optimal diagnostic(positive cut-off value)boundary for AOSI was 9 points,and all of the above values were 1.00. The AOSI evaluation results were completely consistent with the diagnostic criteria for ASD in DSM-5(Kappa=1,P<0.01).Conclusions AOSI has high sensitivity and specificity when it is used to evaluate the 1-year-old infant.When “9 points” is taken as the diagnostic threshold,it can better predict whether the infant has ASD at the age of 2~3 years.AOSI is an important tool for screening ASD in infancy.Its evaluation results can be used as evidence for early intervention of high-risk infants with ASD and as a assisting tool to diagnosis ASD,which is suitable for clinical application.
专家述评
血友病是一种由于X染色体上凝血因子基因突变所致的遗传性出血性疾病,目前主要的治疗方法是凝血因子替代疗法。但长期频繁的注射用药往往导致患者依从性差,容易产生抑制性抗体,从而影响治疗效果。虽然现在延长半衰期的新型凝血因子药物、人源化双特异性抗体以及抗组织因子途径抑制剂单克隆抗体等用于疾病治疗,在给药方式和作用持续时间上已有很大进步,但它们仍无法治愈血友病。因此,以疾病根治为重要目标的基因治疗被设计出来,近年来受到了广泛的关注。该文介绍了血友病基因治疗的原理、基因治疗载体的选择、基因治疗预处理方案,总结了现阶段基因治疗临床应用的安全性和有效性;最后讨论基因治疗目前存在的问题以及未来发展方向。
Hemophilia is a genetic bleeding disorder resulting from mutations in coagulation factor genes on the X chromosome.The mainstay of current treatment is coagulation factor replacement therapy.However,frequent and long-term injections often lead to poor patient compliance,easy inhibitor development,and compromised therapeutic efficacy.Despite advancements in delivery methods and prolonged action of novel agents such as extended half-life coagulation factor concentrates,humanized bispecific antibodies,and anti-tissue factor pathway inhibitor monoclonal antibodies,these approaches still fall short of curing hemophilia.Consequently,gene therapy,aiming for disease eradication,has garnered significant attention in recent years.This review delves into the principles of gene therapy,the selection of gene therapy vectors,and gene therapy preconditioning regimens.It summarizes the safety and efficacy of gene therapy in current clinical applications and discusses challenges and future directions in this field.