目的 调查青少年1型糖尿病患者饮食行为紊乱现状并分析其影响因素.方法 便利选取于2021年12月—2022年9月在南京市某三级甲等医院复诊的187例青少年1型糖尿病患者作为调查对象,使用一般资料调查表、修订版糖尿病饮食行为紊乱量表、糖尿病相关问题量表-5、青少年糖尿病优势与韧性量表、青少年自我控制双系统量表进行调查,了解其饮食行为紊乱现状,并采用多元线性回归分析相关影响因素.结果 回收有效问卷174份.青少年1型糖尿病患者饮食行为紊乱得分为(21.25±10.93)分,饮食行为紊乱发生率为54.60％.多元线性回归分析结果显示,性别、BMI、心理痛苦、心理韧性和自我控制能力是饮食行为紊乱的影响因素.结论 青少年1型糖尿病患者饮食行为紊乱处于较高水平.医护人员应定期评估患者的饮食行为,尤其是女性、肥胖或超重患者,通过纠正其病态的体型认知、增强其控制疾病的信心,帮助其积极应对压力,减少负性情感体验,进而降低饮食行为紊乱的发生率.

Objective:To investigate the impact of phototherapy on lipohypertrophy (LH) induced by insulin injections.Methods:Ninety-nine diabetes patients with LH who were admitted to the Endocrinology Department of the First Affiliated Hospital of Nanjing Medical University between April 2021 and February 2022 were selected as the study subjects. The length, width, and depth of each LH were measured, and the maximum LH, total LH, and average LH of the long, wide, and deep diameters were collected for all patients. SPSS 26.0 software was used to randomly allocate the subjects to the experimental group (50 cases) and the control group (49 cases). The control group received routine nursing care and avoided insulin injections at the LH site, while the experimental group received phototherapy based on the control group measures, twice a day, for 20 minutes each time for each LH site. Two independent sample t-tests, Mann-Whitney U tests, paired t-tests, and Wilcoxon signed-rank tests were used to compare the intergroup and intragroup differences in the length, depth, and width of the maximal LH, total LH, and average LH in the two groups before and after intervention. Results:There were 3 patients lost to follow-up in the experimental group and 2 patients in the control group, respectively, and 47 patients were included in both groups. After intervention, the length, depth, and width of the maximum LH, total LH, and average LH were all smaller in both the experimental and control groups than before intervention (all P<0.05). After intervention, the depth of the maximum LH and average LH were smaller in the experimental group than in the control group (both P<0.05). Compared with the control group, the percentage changes in the length and depth of the maximum LH, the length, depth, and width of total LH, and the length, depth, and width of average LH before and after intervention were greater in the experimental group (all P<0.05). Conclusions:Avoiding insulin injections at the LH site during hospitalization is beneficial for the regression of LH in diabetes patients. Phototherapy can further reduce LH by stopping insulin injection at the LH site.

常染色体显性遗传脊髓性肌萎缩症-下肢1型(spinalmuscular atrophy,lowerextremitypredominant-1, SMALED1)是一种非常罕见的、因DYNC1H1基因杂合性突变导致的常染色体显性遗传病.2010年, Harms等[1-2]根据染色体14q32连锁显性遗传与主要表现为下肢远端受累脊髓性肌萎缩症的临床特征,提出了SMALED1的命名,并在随后的研究中鉴定了DYNC1H1基因杂合性突变为SMALED1的遗传性病因.

Objective:To investigate the ego-depletion level of adolescents with type 1 diabetes mellitus (T1DM) and to explore its association with glycemic control and quality of life.Methods:This was a cross-sectional survey study. A total of 195 adolescents with T1DM were recruited from the First Affiliated Hospital of Nanjing Medical University from March to September 2022 by convenient sampling method. The Self-Regulatory Fatigue Scale (SRF-S) and Short Form of the Chinese version Diabetes Quality of Life for Youth Scale (C-DQOLY-SF) and the general information questionnaire were collected and the glycated hemoglobin (HbA 1c) value was detected. Results:The total score of self-regulatory fatigue for 195 adolescents with T1DM was (42.23 ± 9.94) points, with a scoring rate of 52.79%, which was at a medium level. Pearson correlation analysis showed that the total score of self-regulatory fatigue was positively correlated with HbA1c ( r = 0.25, P<0.01), and negatively correlated with quality of life ( r = -0.61, P<0.01). The hierarchical linear regression results showed that after controlling for demographic sociolagy and disease variables, ego-depletion had a positive predictive effect on HbA1c ( t = 3.69, P<0.01), while ego-depletion had a negative predictive effect on Quality of life ( t = -8.48, P<0.01). Conclusions:Ego-depletion of adolescents with T1DM may affect their blood glucose control and quality of life, which should be noticed by medical workers.

Objective To evaluate the diagnostic value of fetal cardiac axis angle and venous catheter（DV） spectrum for congenital heart disease in early pregnancy. Methods A total of 616 pregnant women in early pregnancy from June 2019 to June 2022 were selected and their clinical data were retrospectively analyzed. The pregnant women were divided into two groups: an observation group, including 19 pregnant women with fetuses diagnosed with congenital heart disease in early pregnancy, and a control group, including 597 pregnant women with healthy fetuses in early pregnancy. Both groups were compared for the fetal cardiac axis angle, venous catheter spectrum parameters, such as ventricular peak systolic flow velocity（PSV）, ventricular peak diastolic flow velocity（PDV）, and atrial PSV. The clinical value of each index alone and in combination for the diagnosis of congenital heart disease was evaluated. Results Compared with the control group, the observation group showed remarkable increases in ventricular PSV, ventricular PDV, atrial PSV, and cardiac axis angle（P＜0.05）. There were 19 positive cases and 597 negative cases among 616 patients.（1）There were 31 cases of venous catheter spectrum abnormalities, and 14 cases were finally diagnosed as congenital heart disease, including 2 cases of atrial septal defect, 5 cases of simple ventricular septal defect, 2 cases of simple atrial septal defect, 1 case of tetralogy of Fallot, 1 case of transposition of the great arteries, 2 cases of right aortic arch, and 1 case of right ventricular double outlet.（2）Cardiac axis angle: there were 7 cases with left axis deviation and 3 cases with right axis deviation, and 7 cases were finally diagnosed as congenital heart disease, including 3 cases of ventricular septal defect, 1 case of mitral stenosis, 2 cases of patent ductus arteriosus, and 1 case of atrial septal defect.（3）There were 23 cases according to combined cardiac axis angle measurements, and 18 cases were finally diagnosed with congenital heart disease. Compared with the individual test methods, the combined test showed increases in accuracy and specificity（P＜0.05）. The sensitivity of the combined test was not different from that of the DV spectrum test（P＞0.05）, but higher than that of the cardiac axis angle test（P＜0.05）. Conclusions The combined test of fetal cardiac axis angle and DV spectrum has higher diagnostic efficiency of congenital heart disease than the individual test alone.

Objective:To observe the effect of oral-facial muscle training applying virtual reality technology (VR) and of action observation therapy on the salivation of children with cerebral palsy (CP).Methods:Sixty CP children with uncontrolled salivation were randomly divided into a control group and an observation group, each of 30. In addition to conventional rehabilitation treatment, the control group received routine tongue muscle training, buccal lip muscle training, ice stimulation, and Masako swallowing training. The observation group received oral-facial muscle training based on action observation therapy in a virtual environment. Both groups were trained 30min per day, 5 times a week for 3 weeks. Before and after the treatment, drooling (DDSS) and swallowing function scores were evaluated. Integrated surface electromyography (iEMG) of the buccinator and orbicularis oris muscles was also performed.Results:After treatment, a significant decrease was observed in the average DDSS and the swallowing function scores of both the control and observation groups, along with a significant increase in the average root mean square values of the buccinator and orbicularis oris iEMGs of both groups. However, the average DDSS score of the observation group was significantly lower than that of the control group, while the average iEMG readings were significantly better.Conclusion:VR-based action observation oral-facial muscle training is a more effective supplement to conventional rehabilitation treatment than conventional oral-facial muscle training in improving the salivation of children with CP.

Objective:To explore the ability of the Hammersmith Infant Neurological Examination (HINE) to predict the gross motor development of high-risk infants.Methods:A total of 207 high-risk infants were assessed with the HINE and the Gesell Developmental Schedule (GDS) at the ages of 3, 6, 9 and 12 months. They were then divided into a normal development group and a delayed group according to their gross motor development at 12 months old. The validity of the HINE′s discrimination was quantified retrospectively as the difference in the total HINE score at each follow-up month between the two groups. Spearman coefficients relating the total HINE score with the gross motor development quotient from the GDS were calculated at each follow-up month. The HINE′s total score threshold for predicting gross motor retardation at 12 months was determined from a receiver operating characteristics curve, and the predictive validity, sensitivity and specificity were evaluated by calculating the area under the curve.Results:At each time point the average total HINE score of the delayed group was significantly lower than the normal group′s average. The correlation between the HINE total scores and the GDS gross motor development quotients was strongest at 6 months old, and weakest at 3 months. The threshold total HINE score for predicting gross motor retardation at 12 months old was 60 at 3 months, 67 at 6 months, and then 71. The instrument′s sensitivity and specificity were very good at all four time points.Conclusion:The HINE can usefully predict gross motor retardation in the first year of life for high-risk infants. The critical value of the total score can be used as an auxiliary diagnostic reference for neuromotor development in such infants.

目的 探讨糖尿病相关心理痛苦在成人1型糖尿病(T1DM)患者低血糖恐惧与生活质量之间的中介作用.方法 采用便利抽样法选取363例成人T1DM患者作为研究对象,采用自制一般情况调查表、中文版低血糖恐惧-忧虑量表(CHFSⅡ-WS)、糖尿病相关问题量表(PAID-5)、中文版胰岛素治疗患者生活质量量表(ITR-QOL-CV)进行调查.比较不同特征T1DM患者的生活质量得分,并分析3种量表得分之间的相关性,通过建立结构方程模型,分析糖尿病相关心理痛苦在低血糖恐惧与生活质量间的中介作用.结果 363例患者的CHFSⅡ-WS、PAID-5、ITR-QOL-CV得分分别为(7.96±5.97)分、(48.62±27.72)分、(88.79±16.22)分.不同病程、家庭月收入、治疗方式、并发症发生情况T1DM患者的ITR-QOL-CV得分差异有统计学意义(均P<0.05).T1DM患者CHFSⅡ-WS得分与ITR-QOL-CV得分呈负相关,CHFSⅡ-WS得分与PAID-5得分呈正相关,PAID-5得分与ITR-QOL-CV得分呈负相关(均P<0.05).糖尿病相关心理痛苦在低血糖恐惧与生活质量间发挥部分中介效应,占总效应的28.52％.结论 糖尿病相关心理痛苦、低血糖恐惧和生活质量三者间存在相关性,糖尿病相关心理痛苦在低血糖恐惧与生活质量间具有部分中介作用.在临床工作中要尽早识别具有低血糖恐惧及心理痛苦的患者,采取针对性的干预措施,以提高患者生活质量.

Objective:To investigate the psychological resilience level of Chinese children and adolescents with type 1 diabetes mellitus (T1DM) and to explore its influence on glucose sugar control.Methods:Using the convenient sampling method, a total of 200 children and adolescents with T1DM in the First Affiliated Hospital of Nanjing Medical University and Nanjing Children's Hospital were selected as research obejcts from January 2019 to January 2021. The general information questionnaire, Diabetes Strengths and Resilience Measure for Adolescents (DSTAR-Teen) and Diabetes Behavior Rating Scale (DBRS) were used to investigate the level of psychological resilience and self-management behavior. And the glycated hemoglobin (HbA1c) value was collected, and analyzed the effect of mental toughness level on it.Results:A total of 200 questionnaires were distributed in this survey, and 196 valid questionnaires were recovered. The total score of DSTAR-Teen for 196 children and adolescents with T1DM was (43.60±8.55) and the total score of DBRS was (0.64±0.16) , the HbA1c value was 7.2% (6.5%, 8.3%) . The results of multiple linear regression analysis showed that the level of mental toughness was an influencing factor of HbA1c level in children and adolescents with T1DM ( P<0.05) . Conclusions:In this study, children and adolescents with T1DM have a higher level of psychological resilience, which may affect their blood glucose control. In the future, interventions that increase the level of mental resilience are suggested to be implemented to promote the improvement of health outcomes of patients.

目的 探讨伴有痉挛性双瘫和视觉缺陷的神经发育障碍(NEDSDV)患儿的临床特征和基因变异特点.方法 回顾性分析2014—2020年在南京市儿童医院康复科确诊的5例NEDSDV患儿的临床表现、实验室检查及基因检测结果,结合文献复习总结NEDSDV患儿的临床及基因特点.结果 5例患儿均表现出全面性发育迟缓、小头畸形、痉挛性双瘫特征,其中例1、例2、例3、例5均有斜视,例5有严重的先天性视网膜渗出性病变.基因检测鉴定5例患儿均为新发的CTNNB1基因杂合变异,且均为截短变异(包括无义和移码变异),其中c.478_479insTAAATGA、c.1973dupT和c.625 G>T为新发现的变异.除1例患儿胼胝体压部略薄外余4例患儿均未见显著的脑影像学异常,而视网膜病变亦相对少见.结论 全面性发育迟缓伴有小头畸形和痉挛性双瘫可作为疑诊NEDSDV的指征,而眼病变及脑影像学异常并非该病的必要表型,确诊有赖于基因检测.CTNNB 1的3个新变异的鉴定扩展了NEDSDV的致病性变异谱.

Objective:To explore the clinical application of high-frequency ultrasound in the screening of lipohypertrophy (LH).Methods:This was a cross-section study. A total of 548 diabetic patients who received insulin injection more than six months were recruited from November 2016 to September 2020 in the First Affiliated Hospital of Nanjing Medical University. Clinical data and insulin injection duration of patients were collected, the patients were examined through visual and palpation and ultrasound. The t-test, nonparametric test or Chi square test was used to compare the count data between groups. Results:Of the 548 patients, 418 patients were found to have LH detected by clinical examination, 478 patients by ultrasound, 390 patients both by clinical examination and ultrasound. The detectable rate of LH by high-frequency ultrasound was higher than that by the clinical examination [76.3% (418/548) vs. 87.2% (478/548), χ2=59.998, P<0.01]. Compared with those detected by ultrasound only, the mean depth, median length, median width and median area of LH detected both by clinical examination and ultrasound examination were higher, with a statistically significant difference in the width diameter ( P<0.05). The imaging features of LH included three types ( hyperechoic, isoechoic, hypoechoic) and five subtypes. Among them, the most common type was hyperechoic type, which had no blood flow, no capsule, and uniform mass with unclear boundary, accounting for 65.9% (315/478). Compared with LH detected by high-ultrasound only, the mean deep diameter, length diameter, width diameter and area of LH detected both by clinical examination and ultrasound examination were all increased, and the difference of width diameter was statistically significant [8.67 (7.66, 13.21) mm vs. 13.47 (8.70, 18.22) mm, Z=-2.135, P<0.05]. Conclusion:In addition to the traditional clinical examination (visualization and palpation), high-frequency ultrasound can be used as an important supplement to the examination of insulin injection site in diabatic patients.

目的:调查1型糖尿病（T1DM）患者胰岛素注射相关皮下脂肪增生（LH）的发生率，并分析其与多维度自我管理的关系。方法:采用便利抽样法选取2017年7月至2020年8月于南京医科大学第一附属医院内分泌科门诊、住院和参加夏令营、冬令营等教育活动的持续胰岛素注射时长≥6个月的T1DM患者139例，采用高频超声筛查LH，同时运用胰岛素注射相关自我管理行为评定量表（DBRS）进行问卷调查。采用Pearson相关分析法分析T1DM患者自我管理行为各维度与LH的相关性，二元logistic回归分析法探究患者LH发生的影响因素。结果:139例患者中，111例（79.9%）发现LH。Pearson相关分析结果显示，T1DM患者胰岛素注射相关糖尿病行为总评分及自我管理行为调整、血糖监测与控制、日常基础管理和胰岛素注射管理4个维度评分与LH的发生均呈负相关（ r值分别为－0.681、-0.546、-0.473、-0.580、-0.616，均 P<0.01）。二元logistic回归分析结果显示，DBRS中的自我行为调整维度（OR=0.116，95% CI 0.034~0.163）、血糖监测与控制维度（OR 0.096，95%CI 0.026~0.122）、胰岛素注射管理维度（OR 0.324，95%CI 0.004~0.852）是患者LH发生的影响因素。 结论:T1DM患者LH发生率较高，其发生与多维度自我管理行为相关，重点改善患者胰岛素注射技术的同时，推动患者胰岛素注射自我管理行为的全面提升是有效预防LH发生的重要保障。

目的 探讨Wolf-Hirschhorn综合征(WHS)临床特征及基因突变.方法 回顾分析2017-11-20-2018-05-26南京医科大学附属儿童医院收治的4例发育延迟及智力低下患儿的临床资料,临床拟诊为WHS.应用染色体微阵列芯片分析技术进行基因检测,并复习相关文献总结疾病特点.结果 2例男性和2例女性患儿因生后特殊面容(希腊头盔样面容)、智力低下、发育延迟、肌张力低下、癫痫,应用染色体微阵列芯片分析技术发现患儿4p16.3区域2.24～3.8 Mb的缺失,确诊WHS,给予抗癫痫及康复治疗并定期随访.结论 尽早完善染色体芯片技术检查有助于早期诊断WHS,且能判断预后.染色体微阵列芯片分析与传统细胞遗传学分析方法相比,具有高分辨和高准确度的优点,可为产前遗传学诊断提供更详细信息.

Objective:To detect the mutations of the ALDH3A2 gene in 2 families of patients with Sj?gren-Larsson syndrome(SLS), and to guide their parents to be pregnant rationally. Methods:Two SLS children admitted to Children′s Hospital of Nanjing Medical University were clinically researched and analyzed of their ALDH3A2 gene mutations, comprehensive rehabilitation treatment, and systematic review.The clinical studies of 16 children and 8 cases of ALDH3A2 gene mutation sites that have been reported in China so far were analyzed in order to provide theoretical basis for early diagnosis, treatment, genetic counseling, and prenatal diagnosis. Results:The 2 children in this study had typical ichthyosis-like skin changes, spastic diplegia or quadriplegia, and cannot walk independently, combined with mental retardation and delayed language development.The patients′s ALDH3A2 gene changed, and both their parents and unaffected sister were heterozygous carriers of the mutation. Conclusions:The detection of the ALDH3A2 gene in suspicious SLS patients works well in early diagnosis, rehabilitation treatment, and can improve curative effect.At the same time it is more meaningful to guide genetic counseling and prenatal diagnosis.

为了助推"5+3"一体化临床医学人才培养模式改革,更好地培养新时代医学实用及创新人才,文章基于医学教育改革的整合课程教学理念,由南京医科大学基础医学院人体解剖学系与第一临床医学院心血管内科的中青年骨干教师密切配合,开展"5+3"一体化临床医学生的心血管解剖教学改革,对该教学研究的目的及意义、思路及内容、评价及问题展开深入分析讨论,以充分调动学生学习的积极性并培养其科研思维和临床实践创新能力.

目的 调查T1DM患者Ins注射相关自我管理行为,并分析其与血糖控制的关系.方法 采用便利抽样法选取2016年1月至2019年1月于我院内分泌科门诊、住院和参加夏令营、冬令营等教育活动的T1DM患者289例.采用与Ins注射相关的糖尿病行为评定量表(DBRS)进行调查,并分析其与HbA1c的关系.结果 289例T1DM患者自我管理行为得分(0.64±0.15)分,其中Ins笔(0.62±0.15)分,Ins泵(0.67±0.14)分,DBRS各维度Ins注射得分最高.223例(77.16％)T1DM患者自我管理行为得分(0.64±0.15)分.HbA1c平均值为(7.96±1.65)％,其中62.28％高于7.5％.Pearson相关分析显示,T1DM患者自我管理行为及各维度与HbA1c均呈负相关(P<0.05).Logistic回归分析结果显示,血糖监测与控制(OR 0.091,95％CI 0.024～0.348)、日常基础管理(OR 0.113,95％CI 0.025～0.514)、Ins注射管理(OR 0.216,95％CI 0.054～0.855)是T1DM患者HbA1c的影响因素.结论 T1DM患者自我管理行为处于中等水平,血糖控制不佳.糖尿病自我管理行为是T1DM患者血糖控制的预测因素,全面提高自我管理行为可改善血糖控制.

目的:对不同强度神经肌肉电刺激(neuromuscular electrical stimulation,NMES)治疗脑瘫吞咽障碍患儿临床效果进行分析.方法:将脑瘫吞咽障碍患儿60例随机分为NMES I组、NMESⅡ组、NMESⅢ组和对照组(每组各15例),其中对照组患儿给予常规康复训练,NMES组在常规康复训练基础上分别给予10mA、15mA、20mA不同强度NMES治疗共12周.分析4组患儿在治疗前后吞咽障碍严重程度、营养状况改善程度.运用表面肌电图测定颌下肌群sEMG中吞咽时程及平均振幅改变.结果:4组患儿治疗后较治疗前吞咽障碍评分改善,差异具有显著性(P＜0.05),NMES组吞咽障碍评分较对照组有显著改善(P＜0.05);NMES组总有效率较对照组有所提高,NMES组较对照组营养状况改善程度具有显著性意义,其中NMESⅢ组吞咽障碍及营养状况改善程度优于其他NMES组.sEMG平均振幅增高,吞咽时程缩短,差异具有显著性(均P＜0.05),其中NMESⅢ组优于其他强度NMES组.结论:对脑瘫吞咽障碍患儿实施NMES治疗效果显著,有效改善吞咽障碍、营养状况、咽部肌肉收缩功能.在可耐受范围内,增加刺激强度,可提高治疗效果.

Objective:To investigate the clinical effect of special education combined with sensory integration training on children with autism spectrum disorder (ASD).Methods:A total of 100 ASD children in the department of rehabilitation medicine, Children's Hospital affiliated Nanjing Medical University were randomly assigned to the special sensation group and the single special group by random number table method, with 50 cases in each group. The single special group was given special education intervention, the children should be intervened according to the special education curriculum, including the positive and negative reinforcement, systematic desensitization, extinction, temporary isolation and retribution. We would choose appropriate disgust, warning and other stimuli to minimize the incentives for bad behavior in children with negative reinforcement. For the children with positive reinforcement, we would choose effective reinforcement and gradually depart from the reinforcement process, after education, family members of the children should be guided to intervene at home according to the given intervention operations, which were synchronized with treatment, 40 minutes each time, 6 times a week, 3 months as a course of treatment. The special sensation group was given sensory integration training on the basis of the special education intervention, the personalized sensory integration training program was developed according to the condition, social ability and development of ASD children, which was included the training of tactile, vestibular and proprioceptive sensory, 2 hours each time, 3 times a week, 3 months as a course of treatment. Before the treatment and after 3, 6 months treatment, the children's autism was assessed by children's autism rating scale (CARS), the children's behavior was assessed by children's autism behavior scale (ABC), the children's therapeutic efficacy was assessed by autism treatment evaluation checklist (ATEC).Results:There was no significant difference in the CARS score, ABC score and ATEC score between the two groups before the treatment (P> 0.05); after 3 and 6 months of treatment, the CARS score, ABC score and ATEC score in the two groups were significantly lower than those before the treatment; after 3 and 6 months of treatment, the degree of decrease of CARS score, ABC score and ATEC score in the special sensation group were significantly more than those in the single special group (P< 0.05). After 6 months of treatment, the effective rate in the special sensation group (84.00%) was significantly higher than that in the single special group (64.00%), and the difference was significant (P< 0.05).Conclusion:Special education combined with sensory integration training can effectively improve ASD children's autistic degree and behavior state, and improve the therapeutic effect on children, which is worthy of further clinical promotion.