目的 总结一个以心脏损害为首发症状的假肥大肌营养不良症家系的遗传学及临床特征。方法 对先证者和家系成员进行临床观察、并收集其血清酶、胸片、心电图、 心脏彩色超声、肌肉组织活检及抗肌萎缩蛋白基因突变检测等结果。结果 先证者及家系成员患者符合假肥大肌营养不良症诊断,但以心脏扩大为首发症状,表现为心肌酶谱异常,心电图异常,心彩超提示扩张型心肌病,同时骨骼肌受累不明显,基因检测提示先证者及家系成员患者携带抗肌萎缩蛋白基因外显子40的无义突变[c.5632C>T, p(Gln1878^*)]。结论 该家系成员患者符合X连锁扩张型心肌病诊断,患者存在新发的抗肌萎缩蛋白基因无义突变。

Objective To summarize the genetic and clinical characteristics of a family with Duchenne muscular dystrophy (DMD) with cardiac damage as the first symptom. Methods The results of clinical observations, laboratory tests, chest radiographs, electromyography, echocardiography, muscle tissue biopsies, and DMD gene mutations were collected. Results Patients with probands and family members met the diagnosis of DMD. However, cardiac enlargement was the first symptom, presenting as abnormal myocardial enzyme spectrum, abnormal electrocardiogram, and dilated cardiomyopathy in echocardiography, while skeletal muscle involvement was not obvious. One nonsense pathogenic mutation c.5632C>T, p(Gln1878^*) of exon 40 in the DMD gene was identified in the patients with probands and family members. Conclusion The patients of this family met the diagnosis of x-linked dilated cardiomyopathy, and a new nonsense pathogenic mutation of DMD gene was identified in this family.

目的 运用传统中医药理论,用中西医结合的方法,探讨简便中药结合肠内营养(EN)的支持方式对胃肠道肿瘤术后营养状况和炎性反应的影响,及改善胃肠道功能的作用。方法 胃肠道肿瘤术后患者随机分为黄陈枳术汤结合肠内营养组(观察组)和单纯肠内营养组(对照组)作对比研究,观察两组病人营养支持前后营养指标视黄醇结合蛋白(RBP),血清白蛋白(ALB)及炎性指标C反应蛋白(CRP)的改善情况,观察两组病人恶心、呕吐、腹胀、腹泻等胃肠道症状发生情况。结果 营养支持后RBP,ALB均有升高,观察组病人营养支持后第7、14天RBP和ALB水平均高于对照组,CRP低于对照组,差异有统计学意义(P＜0.05)。两种病人均有胃肠道不良反应,但观察组胃肠道并发症发生率较低,差异有统计学意义(P＜0.05)。结论 黄陈枳术汤结合肠内营养的中西医结合营养支持方法能纠正胃肠道功能紊乱,提高营养支持疗效,对胃肠道肿瘤术后患者的RBP和ALB有提高作用,能降低CRP,减少炎性反应,促进患者快速康复,缩短住院时间。

Objective Using a combination of Chinese and western medicine, to explore the effect of Huang Chen Zhisu decoction combined with enteral nutrition on RBP/ALB/CRP of gastrointestinal tumor patients after surgery,and improve gastrointestinal disorders. Methods Postoperative patients of gastrointestinal tumor were randomized into Huangchen Zhisu decoction combined with enteral nutrition group(observation group)and enteral nutrition group(control group). The retinol-binding protein(RBP),albumin(ALB),C-reactive protein (CRP),gastrointestinal symptoms, adverse reaction were observed and recorded. Results After nutrition support, the level of ALB and RBP were both increased. The ALB and RBP of the observation group on the 7th and 14th day after nutrition support were higher than those of the control group.The CRP of the observation group on the 7th and 14th day after nutrition support were lower than the control group, (P<0.05).The rate of postoperative gastrointestinal disorder of the observation group was obviously lower (P<0.05). Conclusion Huangchen Zhisu decoction combined with enteral nutrition has remarkable effect,can enhance the ALB and RPB, reduce CRP. The effect was better than enteral nutrition only. It improves the nutritional status and immune function,helps to promote the resumption on of gastrointestinal function,and helps postoperative patient for a quicker recovery.

目的 应用NRS2002、MNA-SF两种营养筛查方法评估住院老年冠心病患者营养风险,观察营养风险与营养指标及心功能的关系。方法 选取2017年8月-2018年6月在我院全科医学科住院的老年冠心病患者129例,使用两种方法分别进行营养筛查,分成存在营养风险组和不存在营养风险组,完善血常规、生化、心功能检查,统计两组各项指标之间的关系,及两种营养筛查方法与各项指标的相关性。结果 NRS2002筛查出营养风险发生率为38.76%,MNA-SF筛查出营养风险发生率75.97%。与不存在营养风险组比较,存在营养风险组的BMI、HB、ALB下降,且NRS-2002评分中存在营养风险组pro-BNP较不存在营养风险组明显升高。两种营养筛查方法与HB、PA、ALB、pro-BNP均有相关性。结论 运用两种营养筛查方法,结合各项指标能更好对老年冠心病患者进行营养风险评估。

Objective To analyze the preoperative nutritional screening results of the nutritional risk screening 2002（NRS2002） and the Mini Nutritional Assessment Short Form（MNA-SF） in 129 elderly patients with coronary heart disease and their relationships with some nutritional indicators and heart function. Methods NRS2002 and MNA-SF were used to evaluate the nutritional risk of 129 elderly patients with coronary heart disease. We divided the patients into nutritional risk group and non- nutritional risk group. The relationships between two groups with the nutritional indicators and the heart function were analyzed,and the value of the two nutritional screening tools was compared. Results The incidence rate of malnutrition by using NRS2002 was 38.76% and that of MNA-SF was 75.97% among 129 CHD patients. The nutritional risk group had lower BMI,HB and ALB. Nutritional risk group that was screened by NRS2002 had higher pro-BNP. And the two nutritional risk texts were related to HB,PA,ALB and pro-BNP. Conclusion It would be better to use two methods and some indicators to analyze the nutritional risk in elderly CHD patients in the hospital.

目的 探讨抗肿瘤联合营养支持治疗对老年晚期恶性肿瘤癌因性疲倦及厌食行为的影响。方法 选取2015年4月—2017年4月晚期恶性肿瘤老年患者160例,随机分为抗肿瘤治疗组(对照组)和抗肿瘤联合营养支持治疗组(观察组),各80例,对比分析两组治疗前、后癌因性疲倦及厌食行为评分情况。结果 治疗前,两组厌食行为、癌因性疲倦评分比较无差异(P>0.05);治疗后,观察组厌食行为及癌因性疲倦评分均低于对照组(P<0.05)。结论 营养支持治疗在老年晚期恶性肿瘤患者厌食行为及癌因性疲倦方面的改善效果显著,一定程度上提高患者生活质量,减轻痛苦,具有较高临床应用价值。

目的 应用中国膳食平衡指数(DBI-07)对活动期溃疡性结肠炎(Ulcerative Colitis,UC)患者进行膳食质量评价,并分析其与营养指标、活动度等的关系,为UC患者制订科学的营养干预措施提供依据。方法 选取我院符合纳入标准的82例UC患者进行研究,用食物频率法对患者进行膳食调查,应用膳食平衡指数DBI-07评分系统进行评价,同时进行人体测量及营养指标测定。数据用SPSS 17.0软件进行处理分析。结果 本研究中68.3%的UC患者体质量近半年有不同程度降低,40.2%的患者存低白蛋白血症,34.1%的合并贫血。UC患者TS平均值-20.02±7.97; LBS平均值-22.15±6.78, 其中54.9%存在轻度膳食摄入不足、37.8%存在中度摄入不足;DQD平均值24.27±6.21,其中轻、中度失衡分别占80.5%、17.1%。LBS绝对值与体质量减轻程度呈正相关,P<0.05,与血清白蛋白负相关,P<0.01;DQD与白蛋白呈负相关,P<0.01;4 UC患者LBS绝对值与UC活动度呈正相关,P<0.01;DQD值与UC活动度负相关,P<0.01。结论 以中国膳食平衡指数DBI-07评价UC患者膳食质量,92.7%的患者存在低、中度摄入不足,97.6%的UC患者存在膳食失衡,均明显高于健康人群。摄入不足是UC患者营养不良的重要原因,应对UC患者进行营养补充或营养支持。

Objective To survey the diet quality of UC patients using Chinese diet balance index(DBI-07) and explore their relationship with nutritional index and activity of disease, thereby to provide evidences of nutritional therapy for UC patients. Methods 82 adult UC patients who met the inclusion criteria were included in our study. They were investigated with food frequency questionnaires(FFQ) and diet quality was assessed with DBI-07. Anthropometric measurement and blood examinations were done. Data were analyzed with SPSS 17 software. Results 68.3% of the UC patients loss their weight during the recent 6 months. 40.2% of the patients were found hypoalbuminemia and 34.1% were complicated with anemia. The mean TS,LBS and DQD were -20.02±7.97, -22.15±6.78 and 24.27±6.21 respectively. Percentage of patients in slightly or moderately deficit of food intake were 54.9% and 37.8%. Percentage of the UC patients in slightly or moderately dietary imbalance were 80.5% and 17.1%.The absolute value of LBS and DQD were negatively correlated with serum albumin respectively, and both of them were positively correlated with activity of UC. Conclusion Evaluating the quality of UC with DBI-07,92.7% of UC patients were in slightly or moderately deficit of food intake,97.6% were in slightly or moderately dietary imbalance. These percentages were higher than that of healthy people. It indicated that deficit of food intake is an important reason resulting in malnutrition. Nutrition therapy is essential for UC patients.

目的 探讨科学的出院后营养管理对肠道术后新生儿体格追赶的效果,分析影响体格追赶的相关因素。方法 通过营养门诊对出院术后婴儿及社区婴儿进行个体化营养喂养指导和营养咨询,比较两组每月体质量、身长及头围,并随访至生后9月龄。两组生后半年生长趋势行重复测量检验。结果 第1月龄时,手术组患儿体质量、身长、头围均落后于对照组婴儿(P<0.001, P=0.004, P=0.008),第2月龄时,手术组患儿体质量、头围仍落后于对照组(P=0.003,P=0.031),第4月龄时,手术组体质量低于对照组(P=0.012),第5～9月龄,两组体格指标均无明显差异。生后半年内两组的生长趋势差异无统计学意义。前半年身长的增长与出生身长、父母文化以及父亲的不良习惯存在负相关关系,头围的增长与住院天数呈明显负相关关系、与出生以及首诊时的体格状况呈正相关关系。结论 合理喂养对新生儿肠道术后体格追赶有利,帮助其接近正常生长曲线。再次手术可能是导致体质量增长下降的主要因素,但未明显影响身长、头围的正常增长。出生时和就诊时的体格状况、父母教育程度和不良习惯以及住院天数均是影响体格追赶的相关因素。

Objective To investigate the effect of scientific nutrition management after discharge on neonatal physical catch-up after intestinal operation, and to analyze the related factors affecting physical catch-up. Methods Individualized nutritional feeding instruction and nutrition consultation were performed on infants and community infants after discharge from hospital through nutrition clinic. The monthly body weight, body length and head circumference were compared between the two groups, and followed up to 9 months old. The growth trend of the two groups in half a year after birth was tested by repeated measurement. Results At the first month of age, the body weight, body length and head circumference of the patients in the operation group were lower than those in the control group (P<0.001, P=0.004, P=0.008). At the second month, the body weight and head circumference of the operation group were still behind those of the control group (P=0.003, P=0.031), and at the fourth month of age, the weight and head circumference of the patients in the operation group were still lower than those in the control group. The body weight of the operation group was lower than that of the control group (P=0.012), and there was no diffence in the physical indexes between the two groups at the age of 5~9 months. There was no statistical significance in growth trend between the two groups within half a year after birth. The growth of body length in the first half of the year had a negative correlation with the length of birth, parents' culture and father's bad habits. The growth of head circumference had a negative correlation with the length of stay in hospital, and had a positive correlation with the physical condition at birth and at first visit. Conclusion Reasonable feeding is beneficial to the physical catch-up of the newborn after intestinal operation and helps them approach the normal growth curve. Reoperation may be the main cause of weight loss, but it does not affect the normal growth of body length and head circumference. The physical condition at birth and medical visit, parents' education level, bad habit and hospitalization days were all related factors of physical catch-up.

目的 探讨加味六君子汤联合经口营养补充对COPD稳定期伴营养不良患者营养状况和肺功能的影响。方法 收集呼吸内科COPD稳定期并伴营养不良的患者40例,分为试验组和对照组各20例。试验组在对照组基础上再给予加味六君子汤和经口营养补充,观察治疗前、治疗后3月的营养相关指标和肺功能指标,然后进行统计分析。结果 ①治疗后3月,试验组的体质量、白蛋白、前白蛋白和肺功能指标较治疗前均明显改善(P<0.05)。②与对照组比较,试验组的白蛋白、前白蛋白、血红蛋白均明显升高(P<0.05),肺功能亦有显著改善(P<0.05)。③上臂肌围(MAMC)、三头肌皮褶厚度(TSF)在治疗后的组内及组间比较差异均无统计学意义(P>0.05)。结论 加味六君子汤联合经口营养补充有助于COPD稳定期伴营养不良患者体质量增加、蛋白升高,营养状况好转,从而增加呼吸肌储备,改善患者肺功能。

Objective To observe the influence of modified-liujunzi-decoction combined with Oral nutritional supplements(ONS) on the nutrition status and lung function in patients with chronic obstructive pulmonary disease(COPD). Methods 40 patients of COPD stable phase with malnutrition were divided into two groups and each group with 20 cases. On the basis of the control group, the experimental group was given again modified-liujunzi-decoction and ONS. All cases were tested before and 3 months after treatment, for detecting the nutrition related index and lung function index; T-test was used for data statistical analysis. Results ①3 months after treatment, the body weight, serum albumin, prealbumin and lung function index of the experimental group were significantly improved compared with those before treatment (P<0.05). ②Compared with the control group, the serum albumin, prealbumin and hemoglobin were significantly increased in the experimental group (P<0.05), and lung function was also significantly improved (P<0.05). ③After treatment, the mid-arm muscle circumference (MAMC), triceps skinfold thickness (TSF) comparison of intra group and intra group differences were not statistically significant(P>0.05). Conclusion Modified-liujunzi -decoction combined with oral nutritional supplements help to increase body weight, protein, and improve nutritional status in patients of COPD stable phase with malnutrition, thereby increasing their respiratory muscle reserve and improving lung function.

目的 了解某市不同性别在职高级干部营养“知识-态度-行为”(KAP)现状及其健康状况,为开展健康教育工作提供理论依据。方法 采用整群抽样方法抽取228名在职高级干部作为调查对象,采用自行设计的问卷调查营养KAP,根据统一健康体检数据,分析两者之间的相关性。结果 某市在职高级干部男性干部与女性干部在营养知识、营养行为得分两者间有显著差异P＜0.05。营养态度得分两组间无差异P＞0.01。体检结果男性干部总体异常及脂肪肝、高脂血症和高尿酸血症发病率均显著高于女性干部,差异有统计学意义(P＜0.05)。健康状况得分8.27±1.57分(满分10分),与营养KAP得分有明显正相关关系(r＝0.481,P＜0.01)。结论 某市不同性别在职高级干部营养知识水平有待提高,营养态度良好,饮食行为不够合理,应采用多种方式进行营养健康指导,增强自我保健意识,提高整体健康水平。

目的 探讨鼻—空肠营养管在小儿急性胰腺炎中的疗效观察及护理。方法 采用回顾性分析法,选取2013年2月—2015年5月期间我院收治的116例急性胰腺炎患儿的临床资料,按照营养支持方法的不同将患儿分为对照组和观察组,每组58例。对照组患儿肠功能恢复后给予经口进食,观察组给予鼻—空肠营养管进行营养支持;并给予患儿针对性的护理措施。比较分析两组患儿的治疗效果。结果 观察组患儿平均住院时间、平均花费、并发症发生率、手术率及死亡率等指标均低于对照组(P＜0.05),差异有统计学意义。结论 鼻—空肠营养管应用于小儿急性胰腺炎具有较好的效果,降低患儿并发症发生率、手术发生率,缩短住院时间,减少住院消费,促进患儿康复。

Objective To observe the clinical efficiency of nasal jejunal nutrition in children with acute pancreatitis and explore the effective nursing. Methods The clinical characteristics of 116 children with acute pancreatitis from February 2013 to May 2015 in our medical center were retrospectively analyzed. Based on nutritional support, the patients were divided into two groups: the control group consisted of 58 patients receiving oral feeding after the recovery of bowel function, and the experiment group consisted of 58 patients with nasal jejunal nutrition. And all the patients were treated with special care on case-by-case. The efficiency was then compared between the two groups. Results Compared with the control group, the length of hospital stay, cost of care, the incidence of complications, the surgical proportion and the mortality were significantly decreased in the experiment group (P<0.05). Conclusion In the children with acute pancreatitis, application of nasal jejunal nutrition is more effective, leading to decrease incidences of complications and surgical proportion, shorten the length of hospital stay, reduce patients' cost, and finally help rehabilitation.

目的 评价综合营养干预措施与传统的单纯药物治疗对花都区老年原发性骨质疏松 (OP)患者生命质量的影响。方法 采用随机法将符合标准的OP患者随机分配到干预组(A组)和对照组(B组)接受相应的干预处理。干预组给予综合营养干预措施,而对照组只给予单纯的抗骨质疏松药物。结果 干预组人群干预前后生命质量的8个维度中的6个维度得分与干预前比较,差别有统计学意义(P<0.05)。 对照组人群生命质量的8个维度中只有2个维度与干预前比较,得分间差别有统计学意义(P<0.05)。结论 综合营养干预措施可以提高老年OP患者的生命质量。