Efficacy of plasma exchange in children with severe hemophagocytic syndrome: a prospective randomized controlled trial北大核心CSCD

目的 探讨血浆置换在辅助救治儿童重症噬血细胞综合征（hemophagocytic syndrome,HPS）中的疗效和应用价值。 方法 采用前瞻性随机对照研究方法,选取2018年10月至2020年10月在湖南省儿童医院儿童重症监护室（pediatric intensive care unit,PICU）接受救治的重症HPS患儿40例为研究对象,将患儿随机分为置换组和常规组（n=20）,常规组患儿进行病因和对症常规支持治疗,置换组在常规治疗的基础上加以血浆置换辅助治疗。对两组患儿的基本情况、治疗前后的临床症状体征、主要实验室检查指标、疗效和预后情况进行比较分析。 结果 两组患儿治疗前在性别、年龄、入院前病程、病因构成、小儿危重病例评分、器官或系统功能累及情况等指标上比较差异均无统计学意义（P>0.05）,在实验室指标的比较上差异亦均无统计学意义（P>0.05）。两组患儿治疗7 d后,临床症状体征均有所缓解和改善。治疗后置换组C反应蛋白、降钙素原、血清铁蛋白、丙氨酸氨基转移酶、总胆红素水平均低于常规组（P<0.05）。置换组的PICU住院时间较常规组明显缩短,总有效率较常规组明显提高（P<0.05）,但两组总的住院时间和3个月病死率比较差异无统计学意义（P>0.05）。 结论 血浆置换在辅助治疗儿童重症HPS上的疗效优于常规治疗,能改善患儿的临床症状体征和部分实验室指标,缩短PICU住院时间,可能成为治疗儿童重症HPS的一项有效辅助治疗方法。     

Mitochondrial myopathy with ataxia caused by MSTOl gene mutation: a family case report and literature review北大核心CSCD

The clinical characteristics and gene variations of a family with mitochondrial myopathy and ataxia caused by MSTOl gene mutation who visited Xiangya Hospital of Central South University in October 2019 were retrospectively analyzed. The proband was an 11 - year - old female, who was found to have delayed motor and language development and dysarthria at the age of 1 year and 6 months. The 9 - year - old younger brother of the proband had similar symptoms at the age of 1 year and 3 months. Both the proband and her younger brother had muscle weakness and ataxia. Their head magnetic resonance imaging showed cerebellar atrophy, and their electromyography showed neurogenic changes. Genetic testing revealed compound heterozygous mutations in MSTOl: c. 1259delG;p. G420VfsX2 and c. 571 C > T;p. R191X, which were inherited from their parents, respectively. The same site mutations were found in the younger brother. After 2 weeks of cocktail therapy, the symptoms of the children were alleviated, and their language and movement improved. © 2022 ＣｈｉｎＪＡｐｐｌＣｌｉｎＰｅｄｉａｔ. All rights reserved.     

Autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations: a report of 8 cases and literature review北大核心CSCD

目的 总结SYNGAP1基因相关常染色体显性智力障碍5型患儿临床表型及遗传学特点。方法 回顾性分析中南大学湘雅医院儿科诊治的8例SYNGAP1基因相关智力障碍患儿的临床资料。结果 8例患儿的平均起病年龄为9月龄,均伴有中重度发育迟缓(语言落后为著),其中7例患儿伴癫痫发作。8例患儿中7例为新发杂合变异(3例移码变异、2例无义变异和2例错义变异),1例为6p21.3微缺失。目前已报道的中国SYNGAP1基因变异相关智力障碍患儿(包括该研究)有48例,其中40例伴癫痫发作,癫痫发作平均起病年龄为31.4月龄,多为移码变异(15/48,31%)和无义变异(19/48,40%)。治疗上,有癫痫用药史记录的33例患儿中,丙戊酸抗癫痫发作治疗对多数患儿有效(85%,28/33),其中48%(16/33)患儿丙戊酸单药或联合用药治疗达到发作完全控制。结论 SYNGAP1基因相关常染色体显性智力障碍5型患儿起病年龄早,多数患儿伴癫痫发作,以移码变异和无义变异为主,丙戊酸抗癫痫发作治疗对多数患儿有效。     

Clinical features of children with colorectal polyps and the efficacy of endoscopic treatment: an analysis of 1 351 cases北大核心CSCD

Objective To study the clinical features of children with colorectal polyps and the efficacy of endoscopic treatment. Methods A retrospective analysis was performed on the medical data of 1 351 children with colorectal polyps who were admitted and received colonoscopy and treatment in the past 8 years, including clinical features and the pattern and outcomes of endoscopic treatment. Results Among the 1 351 children, 893 (66.10%) were boys and 981 (72.61%) had an age of 2-<7 years, and hematochezia (1 307, 96.74%) was the most common clinical manifestation. Of all the children, 89.27% (1 206/1 351) had solitary polyps, and 95.77% (1 290/1 347) had juvenile polyps. The polyps were removed by electric cauterization with hot biopsy forceps (6 cases) or high-frequency electrotomy and electrocoagulation after snare ligation (1 345 cases). A total of 1 758 polyps were resected, among which 1 593 (90.61%) were pedunculated and 1 349 (76.73%) had a diameter of <2 cm. Postoperative complications included bleeding in 51 children (3.77%), vomiting in 87 children (6.44%), abdominal pain in 14 children (1.04%), and fever in 39 children (2.89%), while no perforation was observed. The children aged <3 years had the highest incidence rates of postoperative bleeding and fever (P<0.0125), and the children with a polyp diameter of ≥2 cm had significantly higher incidence rates of postoperative bleeding, vomiting, and fever (P<0.05). Conclusions Solitary polyps, pedunculated polyps, and juvenile polyps are common types of pediatric colorectal polyps. Electric cauterization with hot biopsy forceps or high-frequency electrotomy and electrocoagulation after snare ligation can effectively remove colorectal polyps in children, with good efficacy and few complications. Younger age and larger polyp diameter are associated with a higher risk of postoperative bleeding. © 2022 Xiangya Hospital of CSU. All rights reserved.     

Exerts consensus on diagnosis and treatment of systemic juvenile idiopathic arthritis combined with macrophage activation syndrome (2022 version)北大核心CSCD

Systemic juvenile idiopathic arthritis (sJIA) is a sub - type of juvenile idiopathic arthritis. It is an inflammatory disease characterized by high fever, rash and/or systemic multiple organ dysfunction. Macrophage activation syndrome(MAS) is a complication of rheumatic diseases. It is almost secondary to sJIA in children. At present, the etiology of sJIA and MAS is not clear, the early clinical features are lack of specificity. So it's easily to miss diagnosis, misdiagnosis, delay the opportunity of treatment, even lead to death. Although the understanding of sJIA and MAS has been gradually deepened in recent years, how to timely and reasonably diagnose and treat it is still a common problem encountered by the children's rheumatology doctors. In order to further standardize the diagnosis, treatment, drug reduction and withdrawal strategies of sJIA and sJIA combined with MAS, and improve the overall prognosis of the disease, four professional academic organizations of children's rheumatology, including the Subspecialty Group of Rheumatology, the Society of Pediatrics, Chinese Medical Association, jointly formulated the Exerts consensus on diagnosis and treatment of systemic juvenile idiopathic arthritis combined with macrophage activation syndrome (2022 version) , to better guide clinical diagnosis and treatment. © 2022 ＣｈｉｎＪＡｐｐｌＣｌｉｎＰｅｄｉａｔ. All rights reserved.     

Influencing factors for the development and severity of bronchopulmonary dysplasia in preterm infants with a gestational age of <32 weeks and a birth weight of <1 500 g北大核心CSCD

Objective To study the influencing factors for the development and severity of bronchopulmonary dysplasia (BPD) in preterm infants with a gestational age of <32 weeks and a birth weight of <1 500 g. Methods A retrospective analysis was performed on the medical data of preterm infants with a gestational age of <32 weeks and a birth weight of <1 500 g who were admitted to Women and Children's Hospital Affiliated to Xiamen University from January 1, 2017 to December 31, 2021. According to oxygen dependence on day 28 after birth, they were divided into two groups: BPD (n=218) and non-BPD (n=142). According to disease severity based on oxygen concentration required at the corrected age of 36 weeks or at discharge, the infants with BPD were divided into two groups: mild BPD (n=154) and moderate/severe BPD (n=64). Indices such as perinatal data and nutritional status were compared between groups. The multivariate logistic regression analysis was used to determine the influencing factors for BPD and its severity. Results The incidence rate and severity of BPD increased with the reduction in gestational age and birth weight (P<0.05). The multivariate logistic regression analysis showed that a long duration of invasive mechanical ventilation (OR=1.320, P <0.05), hemodynamically significant patent ductus arteriosus (OR=2.032, P<0.05), and a prolonged time to reach oral calorie goal of 110 kcal/(kg·d) (OR=1.041, P<0.05) were risk factors for BPD, while an older gestational age was a protective factor against BPD (OR=0.535, P<0.05). Early-onset sepsis (OR=2.524, P<0.05) and a prolonged time to reach oral calorie goal of 110 kcal/(kg·d) (OR=1.029, P<0.05) were risk factors for moderate/severe BPD, while a high mean weight growth velocity was a protective factor against moderate/severe BPD (OR=0.906, P<0.05). Conclusions The incidence rate and severity of BPD in preterm infants with a gestational age of <32 weeks and a birth weight of <1 500 g can be reduced by shortening the duration of invasive mechanical ventilation, giving early treatment of early-onset sepsis and hemodynamically significant patent ductus arteriosus, adopting active enteral nutritional strategies, and increasing mean weight growth velocity. © 2022 Xiangya Hospital of CSU. All rights reserved.