Objective To investigate the clinical features of selenoprotein N1 related myopathy（SEPN1-RM） with sleep-related respiratory insufficiency as the main manifestation. Methods The clinical materials of a SEPN1-RM child with sleep-related respiratory insufficiency as the main manifestation were analyzed, genomic DNAs in the peripheral blood of the child and her parents were conducted with full exon high throughput sequencing, and a related literature review was carried out as well. Results For this child, the onset of the disease was insidious and the progress was slow, and the sense of weak was obvious after doing activities; since the age of 8, this child had difficulty in jumping, accompanied by myopathic facial features, scoliosis, sleep-related respiratory insufficiency and restrictive ventilation dysfunction; muscular MR showed extensive muscular atrophy of muscle groups, and electromyography showed myogenic damage. Gene detection found that SEPN1 gene had compound heterozygous variation, which were c.1396（exon11） C＞T（paternal source） and c.156（exon1）＿c.183+7（IVS1） delCGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGG（maternal source）. Conclusion SEPN1-RM should be considered for children with sleep-related respiratory insufficiency,muscle strength decline,spinal deformity and restrictive ventilation dysfunction. Genetic examination can provide basis for the diagnosis of SEPN1-RM.

目的:探讨婴儿川崎病急性期并发急性心肌梗死引起死亡的临床特征。方法:分析济宁市第一人民医院儿科2021年收治的1例婴儿川崎病急性期并发急性心肌梗死引起死亡的临床及全身尸检资料，并复习相关文献。结果:患儿，男，6个月，因"间断发热2周，眼结膜充血2 d"入院，超声心动图示左右冠状动脉近端分别为3.2 mm和3.1 mm，诊断川崎病；输注大剂量静脉人免疫球蛋白后2 h，患儿出现急剧哭闹、尖叫、呕吐、口唇青紫，其后意识不清，心电图示心肌梗死和严重心律失常，临床抢救无效死亡。尸检示左右冠状动脉及其分支动脉炎伴血栓形成，心肌间质炎症细胞浸润，心肌细胞水肿，部分可见收缩带形成；淋巴结组织广泛增生，局部可见凝固性坏死；肝脏和肾脏组织可见炎症细胞浸润；脑膜血管扩张淤血，脑组织明显水肿。结论:对于存在冠状动脉病变的川崎病婴儿，在急性期治疗期间应常规心电监护，动态观察心电活动，力争早期识别川崎病并发急性心肌梗死。

Objective:To understand the status of sedation and analgesia treatment and management in pediatric intensive care unit(PICU) in Shandong Province, and to provide the basis for the improvement of sedation and analgesia treatment plan.Methods:This study was a multi-center retrospective study.The PICUs of 6 tertiary hospitals in Shandong Province participated in this study.The data of 1 340 children admitted to these 6 PICUs from January 2016 to December 2018 were collected.The age, gender, the pediatric risk of mortality score Ⅲ at 24 hours after admission, whether they received mechanical ventilation, whether they received sedation and(or) analgesia, whether they were monitored sedation and(or) analgesia, and in-hospital mortality were analyzed.The children were divided into the simple sedation group( n=798), the sedation + analgesia group( n=120) and the non-sedation analgesia group( n=422) according to whether they received sedation and(or) analgesia.The diseases, proportion of mechanical ventilation, incidence of hypotension, average length of stay in PICU and in-hospital mortality were compared among the three groups. Results:The median age of the 1 340 children was (13.3±6.4) months, including 786 males(58.7%). Sedation therapy had been carried out in 6 PICUs, of which 5 PICUs had routine sedation assessment; 4 PICUs had carried out analgesic therapy, of which only 2 had routine pain assessment.A total of 918 children(68.5%)received sedation and(or) analgesia, midazolam was the most commonly used sedative drug, followed by dexmedetomidine, and 526 children(57.3%)were monitored for sedation assessment, the most commonly used assessment method was the Richmond agitation sedation score.One hundred and twenty(9.0%)cases received sedation combined with analgesia, fentanyl was the most commonly used analgesic, and 38 children(31.7%) underwent routine pain assessment.There was no significant difference in age and sex among the three groups.The proportion of surgical diseases and patients received mechanical ventilation(100.0%, 120/120) were the highest in the sedation + analgesia group.The proportion of mechanically ventilated patients was the lowest in the non-sedation analgesia group(11.4%, 48/422). The mean duration of mechanical ventilation in the sedation + analgesia group was slightly shorter than that in the simple sedation group( P>0.05). The incidence of hypotension was highest in the sedation + analgesia group, and lowest in the non-sedation analgesia group[21.7%(26/120) vs.2.1%(9/422), P<0.01]. There was no significant difference in in-hospital mortality and mean PICU stay among three groups. Conclusion:Benzodiazepines are still the main sedative drugs used in PICUs in Shandong Province.In recent years, the usage of dexmedetomidine has gradually increased, but the proportion of analgesic use is very low.At present, analgesic and sedative therapy is mainly used for children after surgery and receiving mechanical ventilation.Although analgesic and sedative therapy does not increase the in-hospital mortality and average length of stay in PICU, it increases the incidence of hypotension.The sedative and analgesic treatment and assessment in the PICU of Shandong Province are still not standardized, mainly reflected in infrequently analgesic treatment and the assessment of sedation and pain, which need to be further improved.

Objective:To analyze the epidemiological characteristics of acute paraquat(PQ)poisoning in children in southwest Shandong, and the risk factors for pulmonary interstitial fibrosis.Methods:This retrospective study was performed on the clinical data of children with acute PQ poisoning admitted from January 2013 to December 2017 in 12 hospitals in southwest Shandong.All participants were divided into pulmonary interstitial fibrosis group and no pulmonary interstitial fibrosis group on the basis of the chest CT 14 days after poisoning.The epidemiological characteristics and risk factors of pulmonary interstitial fibrosis were analyzed.Results:During the study period, a total of 307 children with acute PQ poisoning were admitted to 12 hospitals, of which 61 (19.87%) were suffering from acute PQ poisoning.Forty-nine cases with complete clinical data were analyzed, including 26 male and 23 female patients poisoned by oral.The age distribution ranged from 8 months to 14 years.Poisoning mainly occured from July to September of each year.The mortality of acute PQ poisoning was 8.2%(4/49), and the incidence of pulmonary interstitial fibrosis in survival patients was 44.4%(20/45). Statistical differences ( P<0.05) were found between the pulmonary interstitial fibrosis and no pulmonary interstitial fibrosis, with regard to the times of blood purification, the time from poison exposure to blood purification, the application rate of glucocorticoids, the concentration of PQ in urine, the pediatric critical illness score, the time from poison exposure to gastric lavage, the white blood count at admission, serum creatinine, arterial blood lactate, PaO 2, PaCO 2, and PaO 2/FiO 2; however, there was no significant difference in the proportion of blood purification treatment, the mode of blood purification treatment, alanine aminotransferase, aspartate aminotransferase, urea nitrogen, creatine kinase and troponin.Stepwise logistic regression analysis showed that the time from exposure to poison to gastric lavage( OR=0.683, 95% CI 0.210-2.222)and to blood purification( OR=0.0133, 95% CI 0.004-0.042), the times of blood purification( OR=2.862, 95% CI 1.450-5.648), concentration of PQ in urine( OR=1.435, 95% CI 1.085-1.898), and the use of glucocorticoids( OR=0.190, 95% CI 0.048-0.757) were the risk factors for pulmonary interstitial fibrosis( P<0.05). Conclusion:Early gastric lavage and blood purification, increasing the frequence of adminitrating purification appropriately, using low-dose glucocorticoids can reduce the incidence of pulmonary interstitial fibrosis of children with acute PQ poisoning.

目的 了解芪冬颐心口服液辅助治疗小儿重症肺炎合并心力衰竭的疗效.方法 选取2013～2015年收治的重症肺炎合并心力衰竭患儿76例,随机选取数字分为观察组、对照组各38例,对照组给予西药常规强心、利尿、抗感染、止咳祛痰等综合治疗,观察组在上述基础上加用中药芪冬颐心口服液辅助治疗.治疗前后采用彩色多普勒血流仪测定两组患儿左心室射血分数(LVEF)、左心室缩短分数(LVSF)、心脏舒张早期心室充盈速度／舒张晚期心室充盈速度(E/A).测血清氨基N末端B型利钠肽前体(NT-proBNP)、心肌酶谱(CK、CK-MB、LDH)变化.结果 观察组患儿肺啰音消失时间、心衰纠正时间、憋喘消失时间、平均住院时间均优于对照组,差异有统计学意义(P＜0.05).观察组治疗后左心室射血分数、左心室缩短分数、心脏舒张早期心室充盈速度／舒张晚期心室充盈速度改善效果优于对照组,差异有统计学意义(P＜0.05).观察组治疗后,血清氨基N末端B型利钠肽前体、心肌酶谱显著低于对照组,差异有统计学意义(P＜0.05).结论 芪冬颐心口服液辅助治疗肺炎合并心力衰竭患儿,能够提高心肌收缩力、保护心肌细胞,有效改善心功能,有利于患儿预后,临床疗效较好.

目的：对EV71感染重症病例及健康对照组患儿进行外周血淋巴细胞亚群测定及分析，以期能为临床工作提供实验室依据。方法采用流式细胞仪术检测淋巴细胞亚群CD3T淋巴细胞（％）、CD4T淋巴细胞（％）、CD8T淋巴细胞（％）、CD4/CD8比值。结果 EV71重症重型组较对照组CD3、CD4、CD8百分比升高；EV71重症危重型组较其余2组CD3、CD4百分比减低，CD4/CD8比值降低，差异均有统计学意义。结论 EV71感染重症病例细胞免疫功能存在异常。

目的探讨小儿巨细胞病毒感染与晚发维生素K缺乏性颅内出血的关系。方法 80例晚发维生素K缺乏性颅内出血患儿进行血巨细胞病毒-IgM、肝功能检查,其中,阳性患儿50例;同期入院的其他疾病患儿80例作为对照组。结果晚发维生素K缺乏性颅内出血患儿巨细胞病毒-IgM阳性率明显高于对照组,50例阳性患儿中,谷丙转氨酶、总胆红素、直接胆红素较30例阴性患儿显著异常;差异具有显著统计学意义。结论巨细胞病毒感染与晚发维生素K缺乏性颅内出血关系密切,其机制之一是巨细胞病毒引起肝功能损害,导致维生素K吸收不足、凝血因子合成障碍,从而诱发颅内出血。保肝及抗巨细胞病毒治疗有效。但巨细胞病毒对颅内血管的直接损伤机制及对维生素K合成有无直接影响,尚需进一步研究证实。

目的探讨萘夫西林联合美罗培南治疗小儿化脓性脑膜炎的临床疗效。方法将40例临床确诊病例随机分为对照组和治疗组,对照组应用阿莫西林舒巴坦联合头孢曲松静脉滴注,治疗组应用萘夫西林联合美罗培南静脉滴注。结果治疗组在临床症状及脑脊液改善情况上明显优于对照组,且治疗组总有效率(95%)明显高于对照组(65%)。结论萘夫西林联合美罗培南治疗小儿化脓性脑膜炎疗效确切,值得临床推广。

目的 分析儿童MR病因.方法 对260例MR儿童和300例智力发育正常儿童进行对照研究.结果 MR与遗传、窒息、孕期精神刺激、IUGR、惊厥等因素密切相关,MR组与对照组比较差异显著,每项因素χ2均大于8.49,P＜0.005,OR≥3.5.另外,MR还与父母职业和文化水平密切相关,且几个因素可同时存在,又互为因果.结论 MR病因复杂,要减少MR的发生,关键是针对病因进行预防.

Objective 399 hand-foot-and-mouth disease (HFMD)children were from Shandong Jining First People's Hospital whose clinical character,laboratory examination and epidemic characteristics were analyzed in order to enhance the understanding of HFMD and improve treatment level.Methods We collected 399 HFMD patiens from Shandong Jining First People's Hospital Infection Division and studied their epidemiologic feature,clinical manifestation,laboratory examination,treatment and clinical outcome.Data were processed by SPSS 12.0 statistical softwaruse and analyzed using epidemiological methods.Results In this sample,male children were 274 example,68.67 ％ of the total and female children 125,31.33％ of the total.The majority of HFMD patients came from rural area,rural children 358 cases accounting for 89.72 ％ of the sample size,P＜0.01,with statistical meaning.The children in this sample were all have rash,hand skin rash 339,84.96 ％ of the total,rashes on the foot 322,accounting for 80.70 ％,229 cases in hip,accounting for 57.39％,32 patients with the knee rash (8.02 ％ ),oral herpes and ulcer 293 cases,accounting for the 73.43％.With sore throat,salivate were 239 cases,cough 63 cases,headache,vomiting 77 cases,tachycardia 108 cases,body shaking 191 cases,acute atony paralysis 1 case,sleepiness 61 cases,twitch 4 cases.287 cases have complications accounting for 71.93 ％of the total cases.The complications such as meningitis and myocarditis significantly prolongs the course including 2 death and the main reason was neurogenic pulmonary edema,pulmonary hemorrhage and cardiopulmonary circulation failure.Conclusion The majority of HFMD children are from rural areas and most of them are boys.The age of these children is mainly from 1 to 3 years and most of them appear fever and the duration of fervescence for 3-5 days meanwhile the rashes are mainly in hand,foot and oral,which can lead to myocardial injury and the serious damage to the liver.In severe cases,most of them caused by the infection of EV71 and it is more common for body shaking and vomitting in neurological symptoms.Once the patient appears neurogenic pulmonary edema who will have a high mortality rate.Therefore,once these HFMD children have limb shaking and vomiting it indicates that they are severe HFMD children.As for these children,timely treatment would prevent further development of the disease and reduce mortality.