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06 July 2018, Volume 33 Issue 7 Previous Issue    Next Issue

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Expert consensus on the diagnosis and treatment of nonalcoholic fatty liver disease in children Chinese Society of Newborn Screening, Professional Committee of the Prevention and Control of Birth Defects，Chinese Preventive Medical Association Chinese Society of Pediatric Clinical Nutrition，Chine 2018, 33(7): 481-486.  DOI: 10.19538/j.ek2018070601 Abstract ( )

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Expert consensus on the diagnosis and treatment of nonalcoholic fatty liver disease in children 2018, 33(7): 487-492.  DOI: 10.19538/j.ek2018070602 Abstract ( )

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Expert consensus on the diagnosis and treatment of anemia in children with chronic kidney disease 2018, 33(7): 493-497.  DOI: 10.19538/j.ek2018070603 Abstract ( )

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Biochemical，genetic and prenatal diagnosis of methylmalonic aciduria HAN Lian-shu 2018, 33(7): 498-501.  DOI: 10.19538/j.ek2018070604 Abstract ( )   Methylmalonic aciduria（MMA） is the most common organic acidemia in China. Its biochemical diagnostic indexes are the increased propionic carnitine， the increased ratio of propiylcarnitine/acetylcarnitine in blood，and the increased methylmalonic acid and methyl citrate in urine. For patients combined with homocysteinemia（combined MMA）， homocysteine is also increased in blood. As for genetic diagnosis，pathogenic variations are mainly exposed in the following genes：MUT，MMAA，MMAB，MMACHC，MMADHC， LMRD1，HCFC1，MCEE，SUCLG1，SUCLG2 and ABCD4 genes. Prenatal diagnosis is mainly based on genetic analysis for amniotic fluid cells or chorionic cells. The increased ratio of propionic carnitine/acetylcarnitine，and the increased methylmalonic acid and methyl citric acid in the amniotic fluid from pregnant women can be used as an auxiliary indexes for prenatal diagnosis of this disease. Detection of amniotic fluid homocysteine level can be used as a method for prenatal diagnosis of combined MMA.

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Cardiac disease in methylmelonic aciduria: Understanding and management LIU Xue-qin 2018, 33(7): 502-505.  DOI: 10.19538/j.ek2018070605 Abstract ( )   Methylmelonic aciduria may involve cardiovascular system and be manifested as congenital heart disease，cardiomyopathy，pulmonary hypertension and thromboembolic events. Cardiovascular involvement is one of the causes of death in children with methylmalonic aciduria. This article will review the relevant literature，explain the clinical features of cardiovascular involvement and discuss its diagnosis and treatment，so as to improve our understanding and management ability of cardiac disease complicating methylmelonic aciduria.

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Diagnosis and treatment of kidney damage caused by methylmalonic aciduria LYU Nan， MA Cai-yun 2018, 33(7): 506-509.  DOI: 10.19538/j.ek2018070606 Abstract ( )   Methylmalonic acidemia，also known as methylmalonic aciduria，is the most common disease of organic acids metabolic disorders. The patients usually present with multi-organic damage. Neurological diseases are common findings. In some patients，kidney disease is one of the complication or the only symptom. Kidney damage due to methylmalonic acidemia needs much attention. Renal damage caused by methylmalonic acidemia is mainly manifested as tubulointerstitial injury. The common manifestations are hematuria，proteinuria，edema and hypertension. If left untreated，the pregressive disease will lead to renal failure. The detection of plasma total homocysteine，blood amino acids，acyl-carnitines and urinary organic acids and genetic analysis are the important methods of etiological diagnosis with methylmalonic acidemia. Most of the patients of methylmalonic acidemia are cobalamin-effective. The renal diseases are reversible. Many patients are improved or get recovery. For the patients with unexplained renal diseases，the differential diagnosis should be paid attention to. Early diagnosis and early intervention are keys to improving the outcome of the patients with methylmalonic acidemia.

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Management of acute metabolic crisis of methylmalonic aciduria 2018, 33(7): 509-513.  DOI: 10.19538/j.ek2018070607 Abstract ( )   Methylmalonic aciduria is severe metabolic disorders with potential life-threatening acute complications. Early recognition of metabolic decompensation and appropriate management are critical to ensure good outcome. Plasma total homocysteine should be determined as soon as possible for the differential diagnosis of isolated MMA or combined MMA. The cornerstone of acute management is provision of enough calories and volume of body fluid. Protein restriction is necessary for the patients with isolated MMA. Cobalamin，folate and L-carnitine supplementation are important to  correct the metabolic disorders. Underlying triggers should be paid attention to. Long-term management can prolong the life time and improve the quality of life. The individualized nutritional therapy and medical management are keys.

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Methylmalonic aciduria with mental disorders SUN Fang，ZHANG Zhi-xin 2018, 33(7): 513-516.  DOI: 10.19538/j.ek2018070608 Abstract ( )   Methylmalonic aciduria（MMA） is the most common organic aciduria in China with complicated genotypes and phenotypes. MMA patients suffer from multiple systems impairment，especially nervous system. A few patients present with mental disorders. Methylmalonic acid and homocysteine have neurotoxicity. Homocysteine has vasculitic toxicity. The accumulated toxic metabolites can result in neuropsychiatric disorders due to functional and structural damage of nervous system. All of the reported MMA patients with mental disorders present as late-onset type. A majority of them are combined with homocystinemia，among whom cblC is the most common type. MMA can induce the damage to brain，cerebella，extrapyramidal and peripheral nerve，leading to varied neuropsychiatric symptoms，including affection and cognition disorders. For the patients with mental diseases，the differential diagnosis of MMA should be noticed. Early diagnosis and proper treatment can significantly improve their prognosis.

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Brain damage of methylmalonic aciduria and the diagnosis and treatment ZHENG Hong，LU Xiang-peng 2018, 33(7): 516-520.  DOI: 10.19538/j.ek2018070609 Abstract ( )   Methylmalonic aciduria can cause multiple organ injury，especially brain damage. If left untreated，the diseases usually result in severe disability and death in children. The brain damage of methylmalonic aciduria should be paid more attention to. This review describes the mechanism，clinical features，diagnosis and treatment of methylmalonic aciduria，aimed to improve the clinician’s diagnosis and treatment of this disease.

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Blood purification therapy for childhood-onset severe systemic lupus erythematosus：A multi-center epidemiological investigation Blood Purification Specialist Committee of Pediatric Association in Chinese Medical Doctor Association 2018, 33(7): 521-527.  DOI: 10.19538/j.ek2018070610 Abstract ( )   Objective　To study the current status of common blood purification therapy for childhood-onset severe systemic lupus erythematosus（SLE） in China. Methods　The questionnaire was discussed and set by Pediatric Blood Purification Specialist Committee；the data of 127 hospitalized children with blood purification therapy in 22 units were collected and analyzed from January 1，2012 to December 31，2017. Results　（1）Among the 127 cases，including 28 males and 99 females，between 4 to 16 years old. 63 cases were treated by plasma exchange（PE） for 180 times，41 cases were treated by DNA immunoadsorption（DNA-IAS） for 106 times，11 cases were treated by hemodialysis（HD） for 112 times，12 cases were treated by hemoperfusion（HP） for 32 times. （2）PE and DNA-IAS can alleviate the clinical symptoms effectively，causing the systemic lupus erythematosus disease activity index（SLEDAI），ANA titer，antidouble-stranded DNA antibodies，immunoglobulin to decrease and complement to increase significantly. HD for children with renal insufficiency was effective；HP can eliminate inflammatory factors and relieve clinical symptoms of children. The remission rates of PE，DNA-IAS，HD and HP were 87.30%，87.80%，72.73% and 75.00% respectively. Conclusion　PE and DNA-IAS therapy can remove the immune substances in the blood of children with severe SLE quickly and relieve the disease；HD therapy is mainly used for children with severe edema and renal insufficiency；HP therapy can eliminate inflammatory factors effectively and improve clinical symptoms. For children with severe SLE，different blood purification mode should be selected according to the difference of the children’s condition.

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Early diagnosis and treatment with DSA in children with cerebral infarction after congenital heart disease surgery MA Jie-hui，LIU Xin-xian，SUN Dan，et al 2018, 33(7): 528-531.  DOI: 10.19538/j.ek2018070611 Abstract ( )   Objective　To approach the performance of digital subtraction angiography（DSA） in the early diagnosis and treatment with drug perfusion therapy in children with cerebral infarction after the congenital heart disease surgery，then assess the outcome. Methods　From January 2015 to December 2016，6 patients with cerebral infarction developed neurologic symptoms，including facial paralysis，physical activity disorders or convulsions within 12 hours to 3 days after surgery for congenital heart disease. After being diagnosed with ischemic cerebrovascular disease by initial magnetic resonance imaging（MRI）， patients were made a definite diagnosis through DSA and given intravenous infusion of internal carotid artery at the same time. Patients were treated to improve circulation，anticoagulation，intravenous thrombolysis and rehabilitation after DSA. Clinical symptoms were observed at 6 hours，1 day，3 days，1 week and 1 month after operation. Patients were followed up for 1 month to 3 months. Results　After successful DSA surgery and drug perfusion therapy，neurologic symptoms in patients were improved. Facial paralysis was improved in 5 of 6 patients at 6 h，1 d and 2 d of DSA，and limb muscle strength was also improved. Physical activity was gradually improved in 2 patients at the third day after DSA surgery. All cases had no signs of recurrence，serious complications or sequalae（no DSA perioperative bleeding，infection，cognitive dysfunction or physical disability） in the follow-up，and muscle strength was significanthy improved. Conclusion　The early diagnosis is crucial to children with cerebral infarction after the surgery for congenital heart disease.

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Clinical features of hydrocephalus in 267 cases of childhood purulent meningitis HUO Liang*，JIANG Chun-ying，FAN Yu-ying，et al 2018, 33(7): 532-537.  DOI: 10.19538/j.ek2018070612 Abstract ( )   Objective　To explore the clinical characteristics of hydrocephalus in children with purulent meningitis. Methods　The children，aged＜14 years，treated for purulent meningitis at the Shengjing Hospital of China Medical University during the period from January 2010 to December 2016，were retrospectively enrolled in the study. The clinical data of every child who fulfilled the criteria were obtained and analyzed. Data were analyzed using the Statistical Package for Social Sciences（SPSS）13.0. Results　The morbidity of hydrocephalus in children with purulent meningitis was 9.36%（25/267）. In these cases with hydrocephalus，the age of onset was mainly under 6 months old，and the period from onset to diagnosis of hydrocephalus was mainly 1-4 weeks. Fifteen cases of hydrocephalus had a confirmed bacterial etiology as follows：Escherichia coli（n＝6），Streptococcus pneumoniae（n＝2），staphylococcus（n＝2），Group B beta-hemolytic streptococcus（n＝2），acinetobacter（n＝2）and Listeria monocytogenes（n＝1）. The incidence of obstructive hydrocephalus was 48%（12/25）. About 56% patients received a previously treatment with antibiotics. The prognoses of these children were：survival in 12 cases，death in 1 case and loss of follow-up in 11 cases. The related factors of the development of hydrocephalus included：a rural living situation（OR：17.64；95%CI 1.23～252.86），altered level of consciousness（OR：7.59；95%CI 1.09～52.86），CSF protein＞2.0 g/L（OR：177.02；95%CI 3.53～8866.51），C-reactive protein＞100 mg/L（OR：52.29；95%CI 3.26～840.19），initial therapy with dual-agent antibiotic（OR：0.06；95%CI 0.01～0.62），dexamethasone use（OR：149.47；95%CI 2.56～8713.78） and previous treatment with antibiotics（OR：36.28；95%CI 2.84～462.78）. Conclusion　Hydrocephalus is a serious complication of purulent meningitis. The severe clinical manifestations and significantly abnormal  laboratory indexes represent the most important predictor of hydrocephalus in children with purulent meningitis.

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Parent behavioral management skills group training to treat preschoolers’ externalizing problem behaviors FENG Zhe*，CUI Zi-tian，HUANG Min-shi，et al 2018, 33(7): 538-541.  DOI: 10.19538/j.ek2018070613 Abstract ( )   Objective　To explore the effect of group training of parents’ behavioral management skills in the treatment of preschoolers’ externalizing problem behaviors. Methods　The two kindergartens in Shenzhen were screened with Child Behavior Scale Chinese scale（CBSC）， each kindergarten was selected as externalizing problem behaviors intervention group（15 person） and the control group（10 person）. The parent of the intervention group had 8  sessions of group training sessions about behavioral management skills， and no intervention was given to the control group. Compare the CBSC scores in two groups before and after the intervention， and the satisfaction of parents was investigated. Results　There were 23 effective data in intervention group and 18 in control group. After the parents received the group training， their children’s attention scores（12.30±5.30），restlessness scores（10.96±4.76），and the externalizing problem scores（24.13±8.65）were significantly lower than before［（16.13±5.35），（13.35±4.16），（30.78±5.81），P＜0.05］. The aggression score was significantly lower than before［（0.87±0.87） vs. （2.67±2.95），P＜0.05］. The satisfaction survey showed that 100% of the parents were satisfied with the training，with 73.91% of the parents who thought the training helped a lot. Conclusion　Parent behavioral management skills group training is an effective and feasible way to treat the externalizing problem behaviors in preschool children. Further improvement and exploration of standardized parental training methods can help to meet the needs of children’s psychological clinical and health care development，and the demand for health service of children.

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Neuropsychiatric manifestation of systemic lupus erythematosus in children HAO Sheng，NIU Xiao-ling，WU Ying，et al 2018, 33(7): 542-546.  DOI: 10.19538/j.ek2018070614 Abstract ( )   Objective　To observe the incidence，clinical types，and prognosis of neuropsychiatric systemic lupus erythematosus（NPSLE） in children，and to probe the relationship between the onset and the relacted factors. Methods　 The clinical data of 87 children with SLE treated in Children’s Hospital of Shanghai from Jan. 2002 to Dec. 2015 were analyzed retrospectively. The patients were divided into NPSLE group and non-NPSLE group. Collect the data of the patients，including the course of the disease，activity index（SLEDAI scores），blood sedimentation，the values of serum complement and the positive rate of dsDNA，anti-ribosomal P-protein autoantibody and anticardiolipin antibody in autoantibodies，and make a comparison and statistical analysis. Results　Nervous system injury occurred in 23 cases，with an incidence rate of 26.4%，and the average course of the disease was 3～11 months. Most of 23 cases had headache. Most of the patients presented SLE activity in serology. Totally 39 cases of all patients had abnormal cranial imaging findings. Electroencephalogram was performed in 21 patients，which presented 12 abnormalities. There were no statistical differences between patients with and without NPSLE in the disease course，blood sedimentation，the values of serum complement，the positive rate of dsDNA or activity index. Clinical symptoms were improved in all 39 patients after treatment，but 2 patients died of heart failure in follow-up. Conclusion　Neuropsychiatric manifestation in children with SLE is common，and it can happen at any stage of the disease. NPSLE in children presents different kinds of symptoms. Early diagnosis and treatment can improve the short-term prognosis. Psychiatric symptoms may also occur during therapy.

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Current situation of esophageal foreign body in children and clinical application of rigid esophageal endoscope SHEN Xiao-fei，LI Qi 2018, 33(7): 547-551.  DOI: 10.19538/j.ek2018070615 Abstract ( )   Objective　To analyze the clinical value of rigid esophageal endoscopy in treatment with esophageal foreign bodies in children. Methods　A total of 186 pediatric patients with esophageal foreign bodies in Children’s Hospital of Nanjing Medical University from April 2016 to June 2017 were identified. A repeat chest X-ray was performed，children with esophageal foreign body did not pass through the esophagus were taken to rigid endoscopy under general anesthesia. Results　Foreign bodies passed through esophagus and been eliminated out of body in 37 cases，one was removed out by flexible endoscopy，one was vomited out spontaneously. 148 cases were taken to rigid esophageal endoscopy under general anesthesia. Foreign bodies were successfully removed out from 144 cases；no foreign body was found in 2 cases；foreign bodies dropped into the lower digestive tract during operation in 2 cases. Conclusion　Rigid esophageal endoscopy is great helpful in the treatment with esophageal foreign bodies in children.

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Clinical and genetic progress in dopa-responsive dystonia CHEN Yan, BAO Xin-hua 2018, 33(7): 552-555.  DOI: 10.19538/j.ek2018070616 Abstract ( )

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Research progress in intestinal microbiota of neonates and the related diseases YAN Bei-bei, LI Xiao-ying 2018, 33(7): 556-560.  DOI: 10.19538/j.ek2018070617 Abstract ( )