Analysis of gene characteristics and therapeutic effect of cblC type methylmalonic acidemia with hydrocephalus / 中华实用儿科临床杂志

Objective:The clinical manifestations, types of gene mutations, therapeutic effects and prognostic characteristics of 15 children with cblC type methylmalonic acidemia (MMA) and hydrocephalus were analyzed to improve the clinical understanding of the disease, so as to provide a basis for the treatment of the disease.Methods:From April 2015 to January 2019, 15 patients with MMA and hydrocephalus in Department of Pediatric Surgery, Peking University First Hospital were enrolled, and all gene detection showed clbC type.All the 15 patients underwent ventriculoperitoneal shunt.After surgery, the clinical manifestations and imaging findings were applied as the basis to adjust the pressure of the diverter valve appropriately.Clinical data and gene mutation characteristics of 15 children with cblC type and hydrocephalus were retrospectively analyzed, and the therapeutic effects and prognosis were summarized and analyzed as well.Results:There were 8 males (53.3%) and 7 females (46.7%), aged from 2 to 33 months.All the cases were followed up from 11 to 55 months, without death case and serious postoperative complications of hydroce-phalus.The head circumference of 3 cases (20.0%) was in the normal range, 1 case (6.7%) was greater than the normal range, and 11 cases (73.3%) were less than the normal range.Four patients (26.7%) were transferred to the pediatric intensive care unit after surgery.c.609G>A mutation was the most common in this study, with 7 cases (46.7%) of c. 609G>A homozygous mutation, and 5 cases (33.3%) of c. 609G>A heterozygous mutation.Clinical symptoms of intracranial hypertension were relieved or disappeared.The head circumference progressive enlargement was stopped.The anterior fontanelle tension greatly decreased, all " setting-sun" sign of eyes disappeared, and vision loss and hearing loss were better compared with the pre-operation.Four cases (26.7%) displayed normal intelligence and exercise, and 11 cases (73.3%) were left with mild to severe psychomotor retardation.During the follow-up pe-riod, the head CT showed that the ventricle was remarkably narrowed, and interstitial brain edema obviously improved.Conclusions:Ventriculoperitoneal shunt in the treatment of cblC type MMA with hydrocephalus has positive effects.The head circumference of most cblC type MMA with hydrocephalus is less than the normal range.c.609 G>A is the most common mutation in cblC type MMA with hydrocephalus.Perioperative " metabolic crisis" can result in serious complications.

Methylmalonic aciduria combined with hydrocephalus treated with ventriculoperitoneal shunt / 中华实用儿科临床杂志

Objective To summarize the experience of the ventriculoperitoneal shunt in treating children with methylmalonic aciduria combined with hydrocephalus,and to assess the clinical value.Methods From September 2012 to May 2016,a total of 12 patients with methylmalonic aciduria combined with hydrocephalus in Peking University First Hospital were enrolled,including 7 boys and 5 girls.All the 12 patients underwent ventriculoperitoneal shunt.Drug therapy was performed after surgery.The clinical manifestations and imaging findings were used as the basis for adjusting the pressure of the diverter valve appropriately.The clinical condition of patients were evaluated retrospectively.The patients' clinical symptoms,signs,imaging materials,surgical complications and postoperative prognosis were analyzed.Results All the cases were followed up for 3 to 36 months,no death case and no serious postoperative complications of hydrocephalus occurred.Clinical symptoms of intracranial hypertension were relieved or disappeared.The head circumference progressive enlargement stopped.The anterior fontanelle tension decreased significantly.Setting-sun sign of eyes disappeared.One out of 4 cases with convulsion and epilepsy was relieved after the operation.Seven cases of poor vision or vision loss,postoperative visual acuity were improved though not recover to normal eyesight.One case of the children with hearing loss,postoperative hearing recovered.During the follow-up period,the head CT showed that the ventricle was narrowed significantly,interstitial brain edema improved obviously.Conclusion Ventriculoperitoneal shunt is a effective method for treating children with methylmalonic aciduria combined with hydrocephalus,which is beneficial for patients with these diseases.

Protective effect of Shenfu soup on myocardial ischemia in rats and expression of apelin / 中国药理学通报

Aim To study the effects of Shenfu soup onthe ISO -induced myocardial ischemia injury model ofrats and the influence of apelin level changes on myocardial ischemia.Methods The myocardial ischemiainjury model of rats was established by the subcutaneous injection of ISO.For 1 5 days,rats in Shenfugroups were given by gavage 3,6 and 1 2 g · kg -1Shenfu soup and rats in SF injection group were given6.67 g·kg -1 Shenfu injection,rats in sham group andmodel group were given the same volume of distilledwater.Rats were subcutaneously multipoint injectedISO for 5 days on the eleventh administrating day.Theeffects of Shenfu soup on myocardial morphology,serum myocardial enzyme levels,apelin mRNA level inserum and apelin protein level in myocardial tissue,and relationship between myocardial enzyme and apelinexpression were evaluated. Results Shenfu soupcould reduce the degree of myocardial tissue necrosisand compared with model group,CK values and LDHvalues of rats in middleand highdose groups were significantly lower (P <0.05 or P <0.01 ).However,the apelin mRNA level in myocardial tissue and apelinprotein level in serum of the rats in middleand highdose groups compared with model group had increased(P <0.05,P <0.01 ).Meanwhile,serum levels ofapelin and the expression of myocardial enzyme CK andLDH were negatively correlated.Conclusion Shenfusoup has a protective effect on myocardial ischemia injury in rats induced by ISO and the mechanism is involved with the promotion of apelin mRNA and proteinexpression,the inhibition of myocardial enzyme production and the improvement of myocardial ischemia.

Peri-operation treatment for patients with hemophilia A in children with intracranial malignant tumor:a report of 2 cases / 北京大学学报(医学版)

SUMMARY Hemophilia A is aninherited bleeding disorder, lack of coagulation factorⅧ( FⅧ) , and if combined with intracranial malignant tumor, the operation risk is very high. Department of Pediatric Sur-gery in Peking University First Hospital used coagulation factor replacement therapy, succeeded in the operation of 2 cases of intracranial malignant tumor with hemophilia A in children, with no abnormal bleeding events. The establishment of the multi subject cooperation group before operation, good preoper-ative preparation, enough alternative factors, and close postoperative monitoring, are the key to the suc-cessful treatment.