Objective: To investigate the prevalence and determinants of paternal preconception folic acid (FA) supplement use. Methods: This study was based on cross-sectional data from sixteen maternity and child hospitals (centers) or general hospitals located in nine districts of Shanghai. Participants were enrolled from pre-pregnant physical examination clinics, aged 20-50 years. They conducted the questionnaire during the waiting time at waiting-room and restored it before they leaved. The questionnaire data entry was conducted with double times and logical test. Participants were categorized according to the use of FA or multivitamin (MV), the group had used FA or MV supplement was named users, in contrast, the group had not used FA or MV supplement was named nonusers. The correlation between the prevalence of FA supplement use and the selected socio demographic characteristics (age, education, occupation, household annual income, area of research site), lifestyle (smoking situation, drinking situation) Were analyzed. Variables were analyzed as determinants of FA intake using chi-square statistical test and multivariate Logistical regression, respectively. Results: Overall, 4 224 pregnancy planners were enrolled, 4 122 participants were analyzed including 2 343 women and 1 881 men and 1 762 families. Average age was 30.5±4.3, 94.5% were highly educated families. The prevalence of preconception FA supplement use was 15.8% (292/185) in man and 42.6% in women. The prevalence of FA supplement use was higher among men with higher education and income, at traditional district, and with healthy lifestyle factors such as being a nonsmoker. Within 1762 families, 223 were FA supplement user families, 551 were nonuser families. The prevalence of parental FA supplement use was higher among families with higher education and income, living in traditional district, and in families with nonsmoker. Multivariate Logistical regression indicated paternal preconception FA supplement use was more likely among the population in traditional district (OR=8.60, 95%CI: 6.12, 12.07) and with their spouse using FA supplement (OR=1.44, 95%CI: 1.08, 1.93). Conclusion: Prevalence of paternal and parental preconception FA supplement use are approximately one third of maternal FA supplement use. Maternal FA supplement use is far below the National Health and Family Planning Commission requirements, which indicates that education of folic acid supplement knowledge is deeply needed.
Objective:To discuss the of histone deacetylase 7(HDAC7) in bone marrow samples of patients with newly diagnosed pediatric acute lymphoblastic leukemia (ALL) and the association with clinic-biological characteristics, early treatment responses and long-term outcome.Methods: The HDAC7 level of pediatric patients with newly diagnosed ALL was determined by RT-qPCR method. Three samples from ALL patients in CCR for more than 3 years after treatment were used as control and patients were divided into high-（≥1.0） and low- （<1.0）groups．The differences of clinico-biological characteristics, minimal residual disease and event-free survival (EFS) were analyzed between high and low groups. Results: HDAC7 of 236 pediatric patients with newly diagnosed ALL ranged from 0.046 to 10.581, with 124 and 112 patients in the high group and low group, respectively. Univariate analysis showed that the of HDAC7 was associated with low peripheral white blood count （WBC） at diagnosis（＜50×109·L-1 ）, pro-B immunophenotype and MLL gene rearrangement（all P＜0.05）. Logistic multivariate regression analysis showed that WBC （＜50×109·L-1 ）and fusion gene were influence factors of HDAC7 （all P＜0.05）. Intermediate risk group patients with high- of HDAC7 was associated with a favorable 5 year EFS compared with low- group, with（91.0±3.5）% vs. （75.5±4.9）%，P=0.013. Furthermore, HDAC7 was indentified as the independent prognostic factor for EFS in IR patients, with odd ratio and 95% confidence interval of 1.26（1.31~9.51）. Conclusion: In pediatric ALL, of HDAC7 was found to be related to clinical and biological characteristics. Low-HDAC7 was independent adverse prognostic factor for EFS in IR subgroup.
Objective: To explore the association of the change of diet glycemic index (GI) with birth weight and insulin resistance level of overweight pregnant women and their offsprings. Methods: Overweight pregnant women were recruited from Kunshan Maternity and Child Care Center and the International Peace Maternity & Child Health Hospital of China Welfare Institute. The 24 hour diet records in the first and second trimester were collected prospectively and the diet GI change during that period was calculated. Pearson correlation was used to analyze the correlation between thee diet GI change and serum insulin in the third trimester, birth weight and cord blood C peptide. And the association between them was further analyzed by multiple regression analysis. The diet GI change was divided into 4 groups （<25%, -50%, -75%, ＞75%）and birth weight into 3 categories as macrosomia, normal weight and low birth weight. Ordinal ploytomous Logistic regression was developed to analyze the association between diet GI groups and categories of birth weight.Results: A total of 392 overweight pregnant women were recruited and their diet GI in the first and second trimester was 64.4±9.2 and 63.8±9.5 respectively, with the change between them being -0.6±12.7. The average level of serum insulin in the third trimester, birth weight and cord blood C peptide were 11.6(7.4-15.8) uU·mL-1, （3 489.7±519.6）g and 0.7(0.4-1.0) ng·mL-1, respectively. There was no correlation between the diet GI change and serum insulin level in the third trimester, birth weight and cord blood C peptide. Birth weight was associated with the diet GI change, weight gain during the gestation, gestational age at delivery and gender of newborns in the multiple regression model. Categories of birth weight were significantly related to diet GI groups (OR=1.54, 95% CI: 1.06-2.25). No association was found between the diet GI change and either serum insulin in the third trimester or cord blood C peptide. Conclusion: The change of diet GI during the gestation was significantly associated with birth weight, but not with serum insulin level in the third trimester or cord blood C peptide.
ObjectiveTo evaluate the validity and reliability of Chinese version of a short obstructive sleep apnea syndrome (OSAS) screening scale in snoring children and its screening ability. MethodsThe scale was translated and retranslated. Consecutive snoring children (ages above 3 years) were prospectively recruited from the sleep and otolaryngology clinic in Shanghai Children's Medical Center affiliated to Shanghai Jiaotong University School of Medicine from January 2015 to December 2015. Prior to the overnight PSG test, the parents needed to review the child's sleep situation for nearly 6 months and filled out the scale themselves. PSG was taken as the gold standard for diagnosing of OSAS (obstructive apnea hypopnea index (OAHI) ≥ 5 times/h). The reliability and validity of the screening scale were tested and the screening efficacy of the OSAS was calculated with the cutoff points as OAHI 1 times/h, 3 times /h and 5 times/h. ResultsA total of 425 children were ultimately included in the study. Of them, 82 (19%) children were diagnosed as OSAS group by PSG (OAHI≥5/h), others were non-OSAS group. There was significant difference in the gender, nadir SpO2 and OAHI (P ＜0.05) between the OSA group and non-OSA group. The internal consistency of overall questionnaire was good（Cronbach's alpha coefficient was 0.785）. In the exploratory factor analysis, KMO was 0.783, Bartlett 's spherical test P ＜ 0.001, was suitable for factor analysis. Two factors (Q1~Q6 problem) were extracted and both loading factors were above 0.5. The optimal cutoff values were 2.32, 2.32 and 1.99, with the sensitivity＞ 65% and the specificity of 50% to 60% when OAHI≥5, ≥3, ≥1 times / h were used as the grouping standard for OSAS group and non-OSAS group.ConclusionReliability and validity of Chinese version of the short OSAS questionnaire are good. It appears to be an efficient instrument for screening moderate to severe pediatric OSAS in snoring children.
Objective:A BP neural network model for diagnosing Kawasaki disease（KD）based on laboratory tests and clinical symptoms was developed and evaluated. Methods:Consecutive cases of diagnosis for KD and other common febrile illnesses in electronic medical record system of Children's Hospital of Chongqing Medical University from January 2007 to January 2016 was collected as the study subject. Subjects were randomized into training cohort and test cohort using random sampling function in R 3.2.3. Totally 51 clinical information including demographic data, laboratory tests and clinical symptoms were collected and analyzed by univariate analysis to identify significant variables .The diagnostic model was established using Logistic regression analysis and BP neural network, respectively. And the diagnostic performance of the two methods was compared. Results: A total of 905 patients with KD and 438 patients with other febrile illnesses were included: 1 042 patients (700 patients with KD, 342 patients with other febrile illnesses) as the training cohort and 301 patients (205 patients with KD, 96 patients with other febrile illnesses ) as the testing cohort. Univariate analysis showed that 37 variables had significant difference between KD and other febrile illness. Logistic regression analysis showed that 16 variables were included in the optimal regression equation. This BP neural network had 37 input layer nodes, 24 hidden layer nodes and 1 output layer nodes. Logistic regression analysis accurately diagnosed 84.1% of training cohort and 82.1% of testing cohort, the ROC analysis of Logistic regression revealed that AUC was 0.91 in training cohort and 0.89 in testing cohort. The accuracy of BP neural network was 96.4% and 86%, AUC was 0.94 and 0.92. These two models showed reasonably high sensitivity. The specificity of BP neural network model was significantly higher than that of Logistic regression model. Conclusion: A BP neural network model was developed, which has important accessory diagnostic value for diagnosis of KD. But all these conclusions need further validation in clinic.
ObjectiveTo assess the reporting quality of case reports published in seven journals of pediatrics included in Chinese Science Citation Database by the CARE (CAse REport) guidelines and to analyze its influencing factors. MethodsCase reports were retrieved in seven journals of pediatrics included in Chinese Science Citation Database from January 2010 to February 2016. Two reviewers independently screened the literatures, extracted data, and assessed the quality of included studies by the CARE guidelines with 17 items. The meta-analysis was performed by Stata12.0 software. ResultsTotal 797 case reports were included, the CARE guidelines checklist score ranged from 7 to 15 points, (±s) was (11.1±1.5) points. Among all studies, 36(6.0%) scored 17-21 points and were regarded as high quality; 638 (62.7%) scored 10 to 13 points, regarded as medium quality; and 123 (31.2%) scored less than 9 points, regarded as poor quality. The reporting rates less than 50% of the CARE guidelines items included following items: title, introduction, timeline,diagnostic challenges, prognostic characteristics, strengths and limitations of the management of the case and relevant medical literature. The results of stratified analysis showed that both the issue of the CARE guidelines and fund support could improve the reporting quality, the primary authors from class Ⅲ grade Ⅰ hospital or university hospital had no significant influence for reporting quality.ConclusionThe overall reporting quality of case reports published in the seven journals of pediatrics included in Chinese Science Citation Database is poor, and it is mostly influenced by the factors of fund support, the reasonable utilization of the CARE guidelines checklist will improve the reporting quality of case report.
Objective:To investigate the exceeded manual medicine situation of pediatric respiratory ward of the First Hospital of Jilin University , and to analyze the influencing factors. Methods: A cross-sectional study was used to design scheme of experiment, by using the principle of equidistant sampling from September 2014 to September 2015, 500 aged 0 to 18 years patient records of pediatric respiratory ward of the hospital HIS system were selected, the doctor's advice related to the drug was extracted, anddoctor's oral advice, carrying or returning advice, and about 0.9% sodium chloride injection and other similar orders were excluded. The general information and advice were collected to judge if the orders exceeded the manual by age, drug kinds, types of disease and the doctor's advice, logistic regression analysis was used to analyze the risk factors. Results: 500 patient records were included into in this paper, including 465 cases, 18 082 orders, 16 618 hospital medication orders, 1 464 off-hospital carrying medicine orders. 196 drugs were involved, mainly were the respiratory medicine and system anti-infection medicine. (1) In 500 patient records the exceeding medicine rate was 100%. There were 4 717 exceeded medicine orders (26.1%), 9.4 super medication orders in each patient record, and 1.4 super medicine orders in each record. (2) Different exceeded manual medicine comparison: the incidence of without children's usage and dosage (17.4%) was twice of the incidence of other types. (3) Different ages: the overall incidence of exceeded manual medicine difference was statistically significant, the smaller the age, the higher the incidence (P=0.000). (4) Different drug varieties comparison: the overall incidence of exceed manual medicine use system anti-infection drugs (35.7%), respiratory medicine drugs (32.1%) and cardiovascular system (21.8%) were higher; Antiviral drugs were higher than antibacterial drugs (P=0.000), and focused on no child usage and dosage; Asthma drug was higher than antitussive expectorant (P=0.020), the former mainly focused on no children's usage and dosage, the later mainly focused on no method and no children's usage and dosage; Super taboo could be found in the digestive system drugs and other drugs. (5) Comparing different disease types: overall exceed manual medicine rate from high to low was pneumonia, severe pneumonia, bronchitis, bronchial asthma and other diseases, pharyngitis and bronchial foreign body. (6) Different orders: the overall incidence of super manual medicine hospital doctor's advice was lower than off hospital carrying medicine doctor's advice. (7) Logistic regression analysis: compared with infants, in school-age + adolescence the incidence was reduced by 20%; Compared with the system anti-infection drugs, the respiratory system drugs were reduced by 15%; Compared with pneumonia, the risk of rest of the diseases decreased; Compared with senior titles, in intermediate grade and junior titles the risk reduced by 86% and 84%.Conclusion: In pediatric respiratory ward exceeded manual medicine phenomenon is widespread, and no children usage and dosage are the main drug super manual type, followed by the super method.
Objective: To assess the efficacy and safety of the proton therapy for intracranial tumors in childhood.Methods: The electronic bibliographic databases were searched, including Cochrane library, PubMed, Embase, Web of science, Chinese Biomedical Database to assemble the studies of the proton therapy for the most common intracranial tumors in childhood.The MetaAnalyst Beta 3.13 and STATA 12.0 software were used to combine the extracted data. Results: Eleven studies were included, 9 case series reports and 2 case control studies, a total of 531 patients received proton therapy, including 2 of craniopharyngioma (45 patients), 2 of astrocytoma (59 patients), 5 of medulloblastoma (228 patients), 2 of ependymoma (120 patients), 1 report of no pathological type (79 patients). ①Overall survival (OS): There were 2, 3 and 5 years of OS in 5, 10 and 6 reports 2 case-control studies, 3 years OS proton therapy was 94.1% and 94%, photon therapy was 96.8% and 92.5%; 5 years OS of 1 report, proton therapy and photon therapy were 82% and 87.6%. The heterogeneity was found in case series reports of documents (I2＞50%, P＜0.1), by sub group random effects model with 2, 3 and 5 years of OS were 94%(95%CI:0.90-0.97), 90%(95%CI:0.86-0.93) and 87%(95%CI:0.82-0.93).②Local control rate (LC): there were 2, 3 and 5 years of LC in 3, 4 and 2 reports, The heterogeneity was found in case series reports of documents (I2＞50%, P＜0.1), by sub group random effects model with 2, 3 and 5 years of LC are 93% (95%CI:0.88-0.98) ,86% (95%CI:0.81-0.92) and 77% (95%CI:0.70-0.85). ③The second primary malignant tumor (SMN): 4 reported the SMN, only 1 patient of medulloblastoma induced acute myelogenous leukemia with PT and no patient in other reports. ④Toxicoty: 9 papers reported the toxicoties after PT. One paper was not hierarchical report, 16 patients of grade 3 above the level of hearing impairment and 6 patients of vascular injury, 16 patients of the endocrine dysfunction of replacement therapy were reported in 8 papers (465 patients).Conclusion: Available data demonstrated that the most common intracranial tumors in childhood are effectively and safely treated with proton therapy. Although current results are promiseing,more evidence is required before the proton therapy can become the standard threatment for intracranial tumors in childhood.
Objective: To analyze the clinical efficacy and influencing factors of platelet transfusion in children with acute lymphoblastic leukemia(ALL).Methods: From January 1st, 2013 to June 30th, 2016 , ALL patients younger than 14 years old with initial diagnosis and treatment in hematology department or pediatrics department of the Third Xiangya Hospital of Central South University were recruited in this study, and they had at least once apheresis platelets (APs) transfusion. They all infused APs that had same group of ABO and Rh with themselves. The clinical efficacy was evaluated by 24 h corrected count increment(CCI), percentage plate recovery(PPR) and clinical symptoms. The patients with CCI＞4.5, PPR＞20% and the hemorrhage symptom controlled were defined as effective, if not, they were defined as noneffective. The factors that may influence efficacy (including age, gender, fever, hemorrhage, splenomegaly, infection, using cephalosporins and times of platelet transfusion) were analyzed. Results: Total 302 times of platelet transfusion were performed in 44 patients, the average time of each patients was (6.1±5.6). 197 times of transfusion were effective (65.2%), the other 105 times were noneffective. The platelet counts before and after platelet transfusion were (19.2±9.4)×109·L-1 and (66.1±36.2)×109·L-1, it was significant increased (t=11.19，P＜0.01). The effective rates of once (n=44), 2-5 times (n=93), 6-10 times(n=67) and more than 10 times (n=98) were 84.1%, 76.3%, 56.7% and 52.0%, respectively. Patients with fever, hemorrhage, splenomegaly, infection and transfusion repeatedly had a poor efficacy than the patients without these factors (P＜0.05). The above factors were analyzed by multivariate logistic regression, it showed that fever (OR=3.737, 95%CI:1.213 to 11.513) and infusion (OR=3.258, 95%CI:1.019 to 10.419) were independent risk factors.Conclusion: The platelet count and clinical symptoms were significantly improved after platelet transfusion. Fever and infection were the main risk factors of clinical efficacy of platelet transfusion in children with ALL.
Objective: To diagnose a neonate as congenital disorders of glycosylation caused by COG6 gene mutation (COG6-CDG), summarize and compare clinical features of 7 subtypes of CDGs caused by mutations of Golgi complex (COG), and to provide the basis for accurate diagnosis, clinical decision-making and outcome prediction of COG-CDGs. Methods: Analysis was performed on clinical features, parental sanger test, imageological examination, laboratory test and follow-up of a patient carrying a pair of compound heterozygous mutations of COG6, and literatures about clinical features of CDGs caused by COG6 and other COGs were reviewed. Results: The patient presented with recurrent hyperpyrexia, elevated liver enzymes, congenital heart disease, prolonged APTT, multiple small lesions in left kidney, micrognathia, no calcification of second molar, eosinophil deficiency. A pair of compound heterozygous mutations of COG6 was found by WES. c.511C>T p.R171X was from mother and was reported as a pathogenic mutation of COG6-CDG by HGMD, while c.540G>A p.E180E was from father and was a novel splicing mutation. Nine patients were reported as COG6-CDG listed by HGMD, clinical features were liver dysfunction, abnormal growth and development, facial abnormalities, recurrent hyperpyrexia, hypohidrosis, skin abnormalities, congenital heart disease, renal abnormalities, coagulation abnormalities, abnormal immune system, skeletal joint deformities, seizures, abnormal brain MRI, hearing or visual abnormalities or other malformations, more than half patients died and the rest survivors progressed to severe liver dysfunction with recurrent infections. Conclusion: The first case of COG6-CDG is diagnosed and reported in China, COG6-CDG is a rare genetic disease involving multiple organ systems, hypohidrotic ectodermal dysplasia with liver enzyme abnormalities is its main clinical features, most patients present with abnormal growth and development, and poor prognosis. Neonatal gene sequencing can help diagnose COG-CDG and provide the basis for accurate diagnosis, clinical decision-making and outcome prediction of COG-CDGs.
Objective: To investigate the relationship between the genotype and long-term progress in atypical hemolytic uremic syndrome.Methods: Patients diagnosed with thrombotic microangiopathy were included and examined for ADAMTS13 activity. The patients whose ADAMTS13 activity was above 10% were screened for mutations in 267 kidney disease related genes using next generation sequencing. The mutations were confirmed using the Sanger sequencing. The patients were grouped according to their genetic characteristics and compared for the long-term progress. The literatures of aHUS genotype-phenotype were reviewed. Results: Fourteen patients were included in our study, Other organs were involved in 5 patients. 9 of 14 patients (64.3%) were reported with at least one mutation. Heterozygous mutations were found in 3 cases and one case in CFH and CFI genes respectively. One patien was identified with homozygous mutation on MCP, one patient with homozygous mutation on CFHR1 , one with exon 3-5 deletion of the CFHR1, one with combined mutation of C3 and CFB, one with combined CFH exon 20 duplication and exon 4 deletion of CFHR1. Three novel mutations were identified, C3 (c.21G>A), CFH(IVS8+4A>G) and CFI(c.772+1G>T). Comparing the clinical features of mutation carriers and non-carriers, the mutation carrier's kidneys involved the eGFR （mL·min-1·1.73 m-2）were 28.8 and 21.2, respectively, low C3 was found in 4 patients and 3 patients, respectively. During the follow-up for 1-67 months, clinical outcomes varied in mutation-carrier patients, one died during the acute stage and 3 patients progressed to end stage renal disease. Of 3 ESRD patients, one had received renal transplant, 2 experienced recurrence and one died. There were no patient died or progressed to end stage renal disease in mutation non-carrier patients. In literatures, children patients were reported to has a high proportion in trigger events and other organs involvement, Conclusion: CFH mutations lead to poor long-term progression in aHUS patients and Other organs are more easily involved in children.
Objective: To study C-X3-C chemokine ligand 1 (CX3CL1) in plasma or cerebrospinal fluid whether could be used as an biomaker of central nervous system infection. Methods: The plasma and CSF samples were collected from neonates who were suspected to have central nervous infection with lumbar puncture check admitted to Neonatal Ward of Children′s Hospital of Fudan University from December 2015 to May 2016, and they set for infection group, according to clinical manifestations, cerebrospinal fluid routine, biochemistry and culture results, they were divided into the central infection,sepsis and non-sepsis groups. At the same period healthy newborns cord blood samples were collected in the maternity ward of Obstetrics and Gynecology Hospital of Fudan University as a normal control group, and on the basis of birth weight group was divided into ＜ 2 000 g, -2 500 g, -3 000 g, -3 500 g, ＞3 500 g groups; and according to gestational age divided into ＜ 33 w, -35 w, -37 w, -39 w, ＞39 w groups. Using Luminex technology to detect CX3CL1 protein levels（Milliplex reagent kit HCYTOMAG-60K-06）,the differences between groups and subgroups were compared. Results: In 69 cases of control group, there were 24 cases with infection. There were 8 cases in central infection group (meningitis), 10 cases in sepsis group and 6 cases in non-sepsis subgroup (1 case with urinary tract infection, 2 cases with neonatal convulsion, 1 case with hyperbilirubinemia and esophageal tracheal fistula ). In the control group, CX3CL1 in cord blood was (97.8+. 13.3) pg·mL-1,there was no significant difference in cord blood CX3CL1 level among different body weight subgroups and different gestational weeks subgroups (P＞0.05). In infection group plasma CX3CL1 level ［（95.1±8.2）pg·mL-1］ had no significant difference from control group（t=-1.045,P=0.299）. There was significant difference in CX3CL1 level between plasma and cerebrospinal fluid, CX3CL1 level was significantly higher in cerebrospinal fluid（210.0±11.9）pg·mL-1 (P ＜ 0.001). Among central infection group, sepsis group and non-sepsis group cerebrospinal fluid CX3CL1 levels （243.1±13.3）pg·mL-1, （208.2±20.1）pg·mL-1and（168.7±20.6）pg·mL-1, there were significant differences （P=0. 046）; There were also significant differences in CX3CL1 levels in cerebrospinal fluid between central infection group and non-sepsis group （P=0.016）；There were no significant differences in CX3CL1 levels in cerebrospinal fluid between central infection group and sepsis group（P=0.180） or between sepsis group and non-sepsis group（P=0.169）.Conclusion: CX3CL1 level in plasma is relatively stable in the healthy newborns, CX3CL1 level in plasma can not be used to diagnose central nervous infection, CSF CX3CL1 levels may be an auxiliary biomarker for diagnosis of central nervous infection and its severity.
Objective: To investigate neurological status and the risk factors of perinatal encephalopathy of prematurity (EOP) in extremely preterm infants.Methods: Clinical data of extremely preterm infants from January 1st 2009 to December 31st 2015 were collected in Children's Hospital of Fudan University. Gestational ages of infants were all younger than 28 weeks, and all infants underwent magnetic resonance imaging at term-equivalent age or before discharge, and single intracranial hemorrhage infants were taken out. Infants were divided into single EOP group, EOP with intracranial hemorrhage group and normal brain group according to MRI findings at term-equivalent age or before discharge. Univariate analysis was used to determine factors associated with the risk of EOP. Results: Of 115 extremely preterm infants, 20 had single EOP, 15 had EOP with intracranial hemorrhage and 80 were normal brain infants. Among the 35 EOP infants, 31(88.6%) had white matter injury, 4(11.4%) had gray matter injury, 3(8.6%) had cerebellar injury, 1(2.9%) had white matter and gray matter injury and 2(5.7%) had white matter and cerebellar injury. There were 17(48.6%) periventricular white matter injury infants, of them 16(45.7%) were noncystic, and 1(2.9%) was cystic. Fourteen (40%) infants had subcortical white matter injury, and half of them were located in lobe. No significant difference in any factors among the three groups were found (all P>0.05). Conclusion: The most common type of EOP in extremely preterm infants was white matter injury, which was similar to EOP in preterm infants. EOP in extremely preterm infants was not a result of single factor.
objective: To summarize and review a child with Juvenile myelomonocytic leukemia(JMML)so as to improve our understanding to the disease. Methods: A case of Juvenile myelomonocytic leukemia Accompanied with Complex clinical manifestations was reported. We summarize the clinical date of the case and give related analysis and literature review for the disease . Results: The children was 2years old, male , onset with anemia, hemorrhage, pulmonary infection . Physical characteristics :The face is pale,we can see scattered milk coffee spot on the body , hepatomegaly, splenomegaly .The laboratory result: Blood tests: WBC: 75.2x109 / L,M: 6.6%, monocytes monocytes absolute value: 4.94x109 / L, RBC1.07x1012 / L HBC 37g / L, MCV 120fl PLT 36x109 / L, Peripheral blood smear can see a large number of immature cells. we try to give him RBC and platelet transfusion therapy to help him against anemia and hemorrhage . but the boy show up difficult to blood group examination ,and subsequently he developed symptoms of hemolytic anemia ,invalid blood transfusion . we give him Antibiotic treatment against infection, blood transfusion support ,and he fell better.then we give him a bone marrow biopsy. Bone marrow cytology: Bone marrow hyperplasia, mononuclear cells occupy 22% of nucleated cells, including the original immature single accounted for about 13% , and the parents refuse hematopoietic stem cell transplantation therapy , He was taken home .then died a month late . literature review show: Abnormal RAS/MAPK signal transduction pathway activation play a key role in the pathogenesis of JMML, Noonan syndrome (NS) and neurofibromatosis type I (NFI), and other genetic developmental disorder in patients with comorbid or significantly increased the risk of secondary JMML. It has been reported in patients with hematologic malignancies appear difficult to blood group examination , It is related to the patient`s bone marrow stem cells hyperproliferative and surface antigens on the red blood cell reduced or changed . and patients with hematologic malignancies present with invalid transfusion is due to infection, immune disorders and autoantibody production in the pathological state .Conclusion: JMM is a malignant hematologic diseases with very low incidence in children , Typical with clonal hematopoietic stem cell disorder in childhood, The average age of onset was 2 years old, and the boys have high incidence .the prognosis is poor, mortality is high, Hematopoietic stem cell transplantation is the only way to cure the majority of children.
