Standards of care for Kasabach-Merritt phenomenon in China.

Kasabach-Merritt phenomenon (KMP) is a rare disease that is characterized by severe thrombocytopenia and consumptive coagulation dysfunction caused by kaposiform hemangioendothelioma or tufted hemangioma. This condition primarily occurs in infants and young children, usually with acute onset and rapid progression. This review article introduced standardized recommendations for the pathogenesis, clinical manifestation, diagnostic methods and treatment process of KMP in China, which can be used as a reference for clinical practice.

Preliminary investigation of methylation status of microRNA-124a in spinal cords of rat fetuses with congenital spina bifida.

OBJECTIVE: We investigated the expression of microRNA-124a and its methylation status in the spinal cords of rats with congenital spina bifida versus rats with normal fetuses. METHODS: Real-time quantitative reverse transcription-polymerase chain reaction was used to compare the expression of microRNA-124a in the spinal cords of 42 rats with all-trans retinoic acid induced congenital spina bifida and 42 rats with normal fetuses. The DNA methylation status in the promoter region of miRNA-124a was detected using methylation specific-PCR. RESULTS: Compared with rats with normal fetuses, expression of microRNA-124a was significantly decreased in rats with congenital spina bifida fetuses. The percentages of spinal cords with DNA hypermethylation in the microRNA-124a promoter were 81% and 14% in the congenital spina bifida and normal control groups, respectively. The difference was statistically significant. Further apoptosis testing revealed increased apoptosis cell numbers in the congenital spina bifida samples. Meanwhile, the phosphorylated mitogen-activated protein kinase protein expression level dramatically decreased in the congenital spina bifida samples. CONCLUSION: Aberrant DNA methylation was responsible for down-regulation of microRNA-124a by regulating the mitogen-activated protein kinase pathway, suggesting that microRNA-124a is a potential diagnostic biomarker in congenital spina bifida.

Altered microRNA expression profiles in a rat model of spina bifida.

MicroRNAs (miRNAs) are dynamically regulated during neurodevelopment, yet few reports have examined their role in spina bifida. In this study, we used an established fetal rat model of spina bifida induced by intragastrically administering olive oil-containing all-trans retinoic acid to dams on day 10 of pregnancy. Dams that received intragastric administration of all-trans retinoic acid-free olive oil served as controls. The miRNA expression profile in the amniotic fluid of rats at 20 days of pregnancy was analyzed using an miRNA microarray assay. Compared with that in control fetuses, the expression of miRNA-9, miRNA-124a, and miRNA-138 was significantly decreased (> 2-fold), whereas the expression of miRNA-134 was significantly increased (> 4-fold) in the amniotic fluid of rats with fetuses modeling spina bifida. These results were validated using real-time quantitative reverse-transcription polymerase chain reaction. Hierarchical clustering analysis of the microarray data showed that these differentially expressed miRNAs could distinguish fetuses modeling spina bifida from control fetuses. Our bioinformatics analysis suggested that these differentially expressed miRNAs were associated with many cytological pathways, including a nervous system development signaling pathway. These findings indicate that further studies are warranted examining the role of miRNAs through their regulation of a variety of cell functional pathways in the pathogenesis of spina bifida. Such studies may provide novel targets for the early diagnosis and treatment of spina bifida.

Postoperative steroids after Kasai portoenterostomy for biliary atresia: a meta-analysis.

AIM: The aim of this systematic review and meta-analysis was to determine if adjunct steroids affect jaundice-free, cholangitis, and survival rates after Kasai portoenterostomy. METHODS: The literature was searched using the following terms: biliary atresia, portoenterostomy, steroids, glucocorticoids, dexamethasone, prednisolone, and hydrocortisone. The primary outcome was the jaundice-free rate. Secondary outcomes were cholangitis and survival rates. RESULTS: Ten studies were included in the systematic review and 8 in the meta-analyses. Steroid treatment regimens were inconsistent between studies. The pooled odds ratio (OR) for the jaundice-free rate did not significantly favor steroid over non-steroid treatment (1.95; 95% confidence interval [CI]: 0.91-4.11; P = 0.087), nor did the pooled OR for the cholangitis rate (0.75; 95% CI: 0.48-1.17; P = 0.202). Overall survival ranged from 58 to 95% in the steroid group and from 36 to 96% in the control group. Native liver survival ranged from 30 to 56% in the steroid group and from 31 to 48% in the control group. The survival data were not suitable for meta-analysis. CONCLUSIONS: Although these results imply that adjunct steroids after Kasai portoenterostomy for BA may not improve jaundice-free or cholangitis rates, the quality of available evidence is limited and therefore not definitive. Additional high quality studies are needed.

[Expression and promoter methylation of SIX2 gene in peripheral blood of pediatric patients with nephroblastoma].

OBJECTIVE: To explore the transcriptional expression and promoter methylation status of SIX2 gene in peripheral blood of pediatric children with nephroblastoma and discuss their clinicopathological correlations. METHODS: Approved by the hospital ethics committee, peripheral blood samples were collected from 45 children with Wilms' tumor(case group) at the Department of Pediatric Surgery, First Affiliated Hospital, Zhengzhou University from October 2008 to January 2012. And another 15 pediatric cases gender-and-age matched, were selected as the control group (excluding cancer and other malignant diseases). The real-time quantitative (qRT)-PCR and methylation-specific PCR (MSP) were used to detect the mRNA expression level and methylation status of SIX2 gene.t or χ(2) test were used. Then analyzed their clinicopathological correlations in the case group and how SIX2 gene methylation affected its transcription. RESULTS: Relative quantity(RQ) of SIX2 mRNA in the case group was higher than that of the control group (1.93 ± 1.10 vs 0.57 ± 0.39, t = 5.354, P = 0.000). There were 8 SIX2 gene methylation-positive cases in the case group versus 12 cases in the control group. And the methylation positive ratio was extremely lower in the case group (χ(2) = 19.600, P = 0.000). RQ values in the case group was associated with tumor size, clinical stage, pathological type, lymph node metastasis, treatment and outcome (all P < 0.05). RQ values in the methylated group was lower than that of the unmethylated group both in case and control group (1.35 ± 0.44 vs 1.95 ± 1.15, 0.43 ± 0.29 vs 1.13 ± 0.20, t = 2.459 and 3.896, P = 0.020 and 0.002) . RQ values of case group was higher than that of the control group in methylated group (t = 5.624, P = 0.000) . No statistical significance existed in RQ values between the case and control groups of unmethylated group (t = 1.222, P = 0.229) . CONCLUSIONS: A close correlation between SIX2 low methylation and high mRNA expression in blood suggests that aberrant promoter methylation is possibly one of gene expression regulations, and may be correlated with the occurrence and development of Wilms' tumor. And SIX2 gene in methylated Wilms' tumor may play the role of oncogenes. A negative correlation exists between the overexpression in transcriptional level and its methylation status.

[Relationship between mRNA expression and promoter methylation status of p73 gene in peripheral blood among children with Wilms' tumor].

OBJECTIVE: To investigate the mRNA expression and promoter methylation status of p73 gene in the peripheral blood of children with Wilms' tumor (WT), and their relationship. METHODS: Forty-five children with WT were selected as the case group, and 15 sex- and age- matched children (without malignancies) who visited the hospital for physical examination or other reasons were selected as the control group. Peripheral blood was collected from both groups. Real-time quantitative PCR and methylation-specific PCR were used to determine the mRNA expression level and promoter methylation status of p73 gene. Their relationship with clinicopathological features and the effect of promoter methylation on mRNA expression of p73 gene were analyzed in the case group. RESULTS: The relative quantity (RQ) of p73 mRNA in the case group was significantly higher than in the control group (3.2 ± 0.9 vs 1.6 ± 1.1; P<0.01). The positive rate of p73 gene promoter methylation in the case group was significantly lower than in the control group (20% vs 73%; P<0.01). In the case group, the RQ of p73 mRNA was significantly higher in children with methylated p73 gene promoter than in those with unmethylated p73 gene promoter (P<0.01). In children with methylated p73 gene promoter, the RQ of p73 mRNA was significantly higher in the case group than in the control group (P<0.01). In children with unmethylated p73 gene promoter, there was no significant difference in RQ of p73 mRNA between the case and control groups (P=0.810). CONCLUSIONS: Aberrant promoter methylation of p73 gene in peripheral blood is one of the gene expression regulations in children with WT, and it is related to the onset and development of WT. The p73 gene may play a role as oncogene in WT patients with p73 gene promoter methylation and mRNA overexpression is associated with promoter methylation status of p73 gene.

Surgical management of intrahepatic vessels in children with stage III/IV hepatoblastoma.

BACKGROUND: Hepatoblastoma (HB) is a rare childhood tumor. We investigated the effect of intraoperative management of the intrahepatic major vessels in children with HB. METHODS: Between April 2005 and August 2012, surgical resection was performed on 50 children with hepatoblastoma. These children were divided into a vessel-ligation group (n = 20) and a vessel-repair group (n = 30). In the vessel-ligation group, the intrahepatic major vessels were ligated and removed together with the tumor and the affected liver lobe/liver parenchyma. In the vessel-repair group, the affected intrahepatic major vessels were dissected and preserved as much as possible and the normal liver lobe/liver parenchyma and blood supply from these vessels were also preserved. The outcomes were analyzed by postoperative follow-up. RESULTS: In the vessel-ligation group, two patients gave up surgery, six patients underwent palliative resection, and 12 patients underwent en bloc resection; four patients died of liver failure and eight patients fully recovered and were discharged. In the vessel-repair group, all 30 patients underwent en bloc resection and were discharged after satisfactory healing. After a follow-up time of 5 - 36 months (median: 20 months), two patient in the vessel-ligation group survived and 22 patients in the vessel-repair group survived. CONCLUSIONS: Patients with HB can be successfully treated by tumor resection with vascular repair. This method prevents postoperative liver failure, ensures patient safety during the perioperative period, and allows for early chemotherapy.

[Serologic characteristics and population distribution of subtypes B2 and AB2 of ABO blood group].

This study was aimed to investigate the serologic characteristics, genetic background and population distribution of B2 and AB2 subtype in Chinese ABO blood group. The classic blood group serological technology was used to detect ABO blood group of the propositus and their family members, the anti-B1 serum prepared by yourself was used to investigate the distribution of B1/B2 and AB1/AB2 subtype of the blood donor. The results indicated that the antigen of propositus was AB2 subtype and that of his child was B2 subtype. The anti-B1 antibody was detected in blood serum of propositus; the antigen of 3 from 2318 blood donors with B blood group were found to be B2 subtype, the antigen of 2 from 826 blood donors with AB blood group were found to be AB2 subtype. The investigation on propositus and the 3 B2 blood donor families showed that B2 antigen displays genetic characteristics of blood group. It is concluded that B2/AB2 subtype is from family inheritance, while B2 subtype is amounted to 0.129% in B blood group, and AB2 subtype is amounted to 0.224% in AB blood group.

Family and segregation studies: 411 Chinese children with primary nocturnal enuresis.

BACKGROUND: The aim of the present paper was to determine the incidence of primary nocturnal enuresis (PNE) among relatives of Chinese children with PNE, the inheritance pattern, and to identify the characteristics of PNE with positive family history. METHODS: From July 2003 to June 2004, an epidemiological survey on PNE children was carried out by self-administered questionnaires to parents of 5-18-year-old Chinese students in Henan Province, central China. A detailed family history was recorded in order to determine the presence of familial PNE as defined as any close relative with PNE beyond the age of 5 years. RESULTS: The response rate was 88% (10 383/11 799), and 411 children (235 boys and 176 girls) with PNE were identified. A positive family history was found in 94 families (22.87%) of 411 probands with PNE, including 48.94% of fathers, 8.51% of mothers, 6.38% of both parents, 6.38% of the siblings and 29.79% of grandfathers or (and) mothers. Among the probands the ratio of male to female was 1.3:1 excluding sex-linked inheritance. Autosomal dominant inheritance was in 14.60%, and autosomal recessive inheritance was consistent in 1.46% of families. In PNE children with positive family history, the proportion of adolescents, with associated daytime symptoms, marked PNE and seeking professional help were significantly higher than those in PNE children without positive family history. CONCLUSIONS: PNE has a significant family clustering, and all modes of inheritance can occur in different families on the basis of a formal genetic analysis. Those with positive family history often manifest marked PNE, and have daytime symptoms.

Detection and significance of serum protein marker of Hirschsprung disease.

OBJECTIVE: The objective of this study was to identify a specific fingerprint chromatogram model of serum proteins for early screening and diagnosis of Hirschsprung disease. METHODS: To detect the protein mass spectrograms of 78 serum specimens (42 specimens of Hirschsprung disease, 16 specimens of adhesive ileus including appendicitis and Meckel diverticulum after operation and inflammatory bowel disease, and 20 specimens of normal control subjects), we used surface-enhanced laser desorption/ionization time of flight mass spectrometry technology, combined with bioinformatics methods (support vector machine) to develop and compare protein mass spectrograms from serum samples. RESULTS: We identified 3 protein markers, the mass-to-charge ratio of which is positioned at 3221.7, 5639.2, and 6884.2 from the fingerprint chromatogram model of serum protein for early screening and diagnosis of Hirschsprung disease. The markers had 100% sensitivity and specificity. CONCLUSION: The fingerprint chromatogram model of serum protein using surface-enhanced laser desorption/ionization time of flight mass spectrometry technology combining support vector machine is a new method of early screening and diagnosis of Hirschsprung disease that is worthy of additional research and application.

Development of nocturnal urinary control in Chinese children younger than 8 years old.

OBJECTIVES: To estimate the development of nocturnal urinary control (NUC) with age in Chinese children younger than 8 years of age using cross-sectional and retrospective surveys. METHODS: We used a cross-sectional survey of 4754 children (1 to 8 years old), a retrospective investigation of 2745 children younger than 9 years old, and an anonymous questionnaire of 8222 children 9 to 18 years old . The children without NUC were subdivided into infant (1 to 3 years old), preschool age (4 to 6 years old), and primary school (7 to 8 years old) groups. RESULTS: The response rate to the cross-sectional and retrospective surveys was 90% and 89%, respectively. In the cross-sectional survey, the prevalence of children attaining NUC was 52% for those younger than 2 years of age, 76% for those aged 2 to 3 years, and 93% at age 8. Girls were more likely than boys to acquire NUC earlier. In the retrospective survey, the prevalence of children attaining NUC before age 2 was 17% and was 72% for those aged 2 to 3 years, and 98% by age 8. The proportion of nonmonosymptomatic bedwettings in children without NUC was 14%. Arousal difficulty and a positive family history were found in 67% and 11% of children with nocturnal wetting, respectively. The severity of bedwetting and arousal difficulty was significantly greater in infants than in preschool and school-age children. CONCLUSIONS: The results from the cross-sectional and retrospective surveys showed that the most important period of attaining NUC is 2 to 3 years of age. Nearly 90% of children attained NUC by the age of 5.

[Clinical study of multiple zonal aganglionosis in long segment Hirschsprung's disease].

OBJECTIVE: To discuss pathogeny and diagnosis and management of multiple zonal aganglionosis in Hirschsprung's disease. METHODS: Records of 3 children, aging 5 days, 29 days and 18 months, 3 boys, with multiple zonal aganglionosis in long segment Hirschsprung's disease between 1987-2005 were reviewed retrospectively. Total colectomy and Soave's operations were performed. RESULTS: 3 children were diagnosed HD before surgery, but the convulsive stenosis in distal ileum and proximal ascending colon were detected during surgery. The aganglionic cells in the stenosis gut were confirmed by pathologic diagnosis. CONCLUSIONS: The total colon and ileum should be detected carefully during surgery in children with long segment Hirschsprung's disease. It is believed not sound that the neuroblastic cells stop moving from neuroectoderm to gut in early gestation in HD, but it is also believed that some other causes in the course of gestation might interfere the normal growth of the ganglionic cells.