Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 28
Filter
1.
Chinese Journal of Contemporary Pediatrics ; (12): 339-344, 2022.
Article in English | WPRIM | ID: wpr-928610

ABSTRACT

Neuroblastoma (NB) is the most common extracranial solid tumor in children and has the features of high recurrence rate and low survival rate, and therefore, early diagnosis, treatment response evaluation, and recurrence monitoring are of great significance for NB patients. Liquid biopsy refers to the detection of cells and nucleic acids in fluid specimens, mainly blood. It is noninvasive and can overcome tumor heterogeneity, thus making it possible to achieve the early diagnosis and dynamic detection of NB. This review introduces the latest advances in clinical research on the application of liquid biopsy in NB.


Subject(s)
Child , Humans , Liquid Biopsy , Neuroblastoma/diagnosis
2.
Chinese Journal of Contemporary Pediatrics ; (12): 550-560, 2022.
Article in Chinese | WPRIM | ID: wpr-928642

ABSTRACT

OBJECTIVES@#To examine the changes of intestinal flora in children newly diagnosed with acute lymphoblastic leukemia (ALL) and the influence of chemotherapy on intestinal flora.@*METHODS@#Fecal samples were collected from 40 children newly diagnosed with ALL before chemotherapy and at 2 weeks, 1 month, and 2 months after chemotherapy. Ten healthy children served as the control group. 16S rDNA sequencing and analysis were performed to compare the differences in intestinal flora between the ALL and control groups and children with ALL before and after chemotherapy.@*RESULTS@#The ALL group had a significant reduction in the abundance of intestinal flora at 1 and 2 months after chemotherapy, with a significant reduction compared with the control group (P<0.05). Compared with the control group, the ALL group had a significant reduction in the diversity of intestinal flora before and after chemotherapy (P<0.05). At the phylum level, compared with the control group, the ALL group had a significant reduction in the relative abundance of Actinobacteria at 2 weeks, 1 month, and 2 months after chemotherapy (P<0.05) and a significant increase in the relative abundance of Proteobacteria at 1 and 2 months after chemotherapy (P<0.05). At the genus level, compared with the control group, the ALL group had a significant reduction in the relative abundance of Bifidobacterium at 2 weeks, 1 month, and 2 months after chemotherapy (P<0.05); the relative abundance of Klebsiella in the ALL group was significantly higher than that in the control group at 1 and 2 months after chemotherapy and showed a significant increase at 1 month after chemotherapy (P<0.05); the relative abundance of Faecalibacterium in the ALL group was significantly lower than that in the control group before and after chemotherapy and showed a significant reduction at 2 weeks and 1 month after chemotherapy (P<0.05). The relative abundance of Enterococcus increased significantly at 1 and 2 months after chemotherapy in the ALL group (P<0.05), and was significantly higher than that in the control group (P<0.05).@*CONCLUSIONS@#The diversity of intestinal flora in children with ALL is significantly lower than that in healthy children. Chemotherapy significantly reduces the abundance of intestinal flora and can reduce the abundance of some probiotic bacteria (Bifidobacterium and Faecalibacterium) and increase the abundance of pathogenic bacteria (Klebsiella and Enterococcus) in children with ALL.


Subject(s)
Child , Humans , Bacteria/genetics , Bifidobacterium , Feces/microbiology , Gastrointestinal Microbiome , Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy
3.
Journal of Experimental Hematology ; (6): 1957-1962, 2021.
Article in Chinese | WPRIM | ID: wpr-922231

ABSTRACT

OBJECTIVE@#To analyze the risk factors affecting prognosis of children with hemophagocytic lymphohistiocytosis (HLH).@*METHODS@#The clinical manifestations and laboratory data of 143 HLH children who met the HLH-2004 diagnostic criteria in Shenzhen Children's Hospital from January 2009 to May 2017 were retrospectively analyzed, and the independent factors affecting prognosis were also analyzed.@*RESULTS@#The median age of 143 HLH children was 1.9 (0.1-14.3) years old, and the median follow-up time was 6.7 years (1 day - 11.9 years). The overall survival rate of 1 month, 1 year, and 10 years was (87.4±5.5)%, (81.1±6.5)%, and (81.1±6.5)%, respectively. The deaths occurred within 1 year after onset. Multivariate analysis showed that central nervous system (CNS) involvement (P=0.047), low hemoglobin (P=0.002), prolonged activated partial thromboplastin time (APTT) (P<0.001), high triglyceride (P=0.005) were all the independent risk factors affecting survival of the children. Receiver operating characteristic curve indicated that APTT (AUC=0.753, P<0.001) was more valuable than other risk factors in predicting death of the children. The cut-off value of APTT was 56.6 s, and the sensitivity and specificity of which was 55.6% and 89.7%, respectively.@*CONCLUSION@#Hypohemoglobinemia, prolonged APTT, hypertriglyceridemia, and CNS involvement the risk factors affecting prognosis of HLH, and prolonged APTT shows a strong predictive value for death.


Subject(s)
Adolescent , Child , Child, Preschool , Humans , Infant , Lymphohistiocytosis, Hemophagocytic , Prognosis , Retrospective Studies , Risk Factors , Survival Rate
4.
Chinese Journal of Contemporary Pediatrics ; (12): 158-163, 2021.
Article in Chinese | WPRIM | ID: wpr-879827

ABSTRACT

OBJECTIVE@#To study the clinical features of sleep-disordered breathing (SDB) in children with neuromuscular disease (NMD).@*METHODS@#A retrospective analysis was performed on the medical data of 18 children who were diagnosed with NMD and underwent polysomnography (PSG) (NMD group). Eleven children without NMD who had abnormal sleeping habit and normal sleep structure on PSG were enrolled as the control group. The two groups were compared in terms of the daily and nocturnal symptoms of SDB, incidence rate of obstructive sleep apnea (OSA), pulmonary function, end-tidal partial pressure of carbon dioxide (PetCO@*RESULTS@#In the NMD group, 16 children (89%) had related daily and nocturnal symptoms of SDB, and the youngest age was 1 year at the onset of such symptoms. Compared with the control group, the NMD group had significant reductions in total sleep time and sleep efficiency (@*CONCLUSIONS@#There is a high proportion of children with SDB among the children with NMD, and SDB can be observed in the early stage of NMD, which results in the damage of sleep structure and the reduction in sleep efficiency. Respiratory events are mainly obstructive events, and oxygen reduction events are mainly observed during REM sleep.


Subject(s)
Child , Humans , Neuromuscular Diseases/complications , Polysomnography , Retrospective Studies , Sleep , Sleep Apnea Syndromes/etiology
5.
Chinese Journal of Contemporary Pediatrics ; (12): 667-671, 2020.
Article in Chinese | WPRIM | ID: wpr-828688

ABSTRACT

The clearance of cancer cells is closely associated with the prognosis of various hematologic malignancies. Clinical studies have shown that minimal residual disease (MRD) can directly reflect the clearance of cancer cells, but the tools for MRD detection need to be improved. This article reviews the latest advances in the MRD detection by digital polymerase chain reaction and next-generation sequencing in B-cell lymphoproliferative disease.


Subject(s)
Humans , B-Lymphocytes , High-Throughput Nucleotide Sequencing , Neoplasm, Residual , Polymerase Chain Reaction , Prognosis
6.
Chinese Journal of Contemporary Pediatrics ; (12): 254-258, 2016.
Article in Chinese | WPRIM | ID: wpr-261249

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the changes in brain injury after the induction chemotherapy in children with acute lymphoblastic leukemia (ALL) by cranial MRI.</p><p><b>METHODS</b>The clinical data and cranial MRI results of 62 children with ALL who were hospitalized from March 2014 to June 2015 were analyzed retrospectively.</p><p><b>RESULTS</b>Before chemotherapy, MRI showed bone marrow infiltration of the skull in 33 patients (53%); the children with WBC<20×10(9)/Lhad a significantly lower incidence rate of bone marrow infiltration of the skull than those with WBC≥20×10(9)/L (16 patients/42% vs 17 patients/71%; P<0.05), and the high-risk group had a significantly higher incidence rate of bone marrow infiltration of the skull than the non-high-risk group (71% vs 44%; P<0.05). Before chemotherapy, there were 4 cases (7%) of brain atrophy, and 2 cases (3%) of abnormal signals in the sensory conduction bundle. MRI reexamination in 28 patients after 3 months of chemotherapy showed 3 new cases (11%) of brain atrophy and 1 aggravated case of brain atrophy.</p><p><b>CONCLUSIONS</b>The children with ALL have bone marrow infiltration of the skull, brain atrophy, and abnormal signals in the sensory conduction bundle before chemotherapy, especially bone marrow infiltration of the skull, and some changes in brain injury disappear after treatment.</p>


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Bone Marrow , Pathology , Brain , Pathology , Induction Chemotherapy , Magnetic Resonance Imaging , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Drug Therapy , Pathology , Retrospective Studies , Skull , Pathology
7.
Chinese Journal of Contemporary Pediatrics ; (12): 405-409, 2016.
Article in Chinese | WPRIM | ID: wpr-261219

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the features of methylation in the promoter region of glucose-6-phosphate dehydrogenase (G6PD) gene and the association between gene promoter methylation and G6PD deficiency.</p><p><b>METHODS</b>Fluorescent quantitative PCR was used to measure the mRNA expression of G6PD in 130 children with G6PD deficiency. Sixty-five children without G6PD deficiency served as the control group. The methylation-sensitive high-resolution melting curve analysis and bisulfite PCR sequencing were used to analyze gene promoter methylation in 22 children with G6PD deficiency and low G6PD mRNA expression. The G6PD gene promoter methylation was analyzed in 44 girls with normal G6PD mRNA expression (7 from G6PD deficiency group and 37 from control group).</p><p><b>RESULTS</b>Twenty-two (16.9%) children with G6PD deficiency had relatively low mRNA expression of G6PD; among whom, 16 boys showed no methylation, and 6 girls showed partial methylation. Among the 44 girls with normal G6PD mRNA expression, 40 showed partial methylation, and 4 showed no methylation (1 case in the G6PD group and 3 cases in the control group).</p><p><b>CONCLUSIONS</b>Gene promoter methylation is not associated with G6PD deficiency in boys. Girls have partial methylation or no methylation in the G6PD gene, suggesting that the methylation may be related to G6PD deficiency in girls.</p>


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , DNA Methylation , Glucosephosphate Dehydrogenase , Genetics , Glucosephosphate Dehydrogenase Deficiency , Genetics , Promoter Regions, Genetic , RNA, Messenger , Sex Characteristics
8.
Chinese Journal of Contemporary Pediatrics ; (12): 630-634, 2016.
Article in Chinese | WPRIM | ID: wpr-261177

ABSTRACT

<p><b>OBJECTIVE</b>Since glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary hemolytic erythrocyte enzyme deficiency, most cases have single nucleotide mutations in the coding region, and current test methods for gene mutation have some missed detections, this study aimed to investigate the feasibility of RT-PCR sequencing in the detection of gene mutation in G6PD deficiency.</p><p><b>METHODS</b>According to the G6PD/6GPD ratio, 195 children with anemia of unknown cause or who underwent physical examination between August 2013 and July 2014 were classified into G6PD-deficiency group with 130 children (G6PD/6GPD ratio <1.00) and control group with 65 children (G6PD/6GPD ratio≥1.00). The primer design and PCR amplification conditions were optimized, and RT-PCR sequencing was used to analyze the complete coding sequence and verify the genomic DNA sequence in the two groups.</p><p><b>RESULTS</b>In the G6PD-deficiency group, the detection rate of gene mutation was 100% and 13 missense mutations were detected, including one new mutation. In the control group, no missense mutation was detected in 28 boys; 13 heterozygous missense mutations, 1 homozygous same-sense mutation (C1191T) which had not been reported in China and abroad, and 14 single nucleotide polymorphisms of C1311T were detected in 37 girls. The control group showed a high rate of missed detection of G6PD deficiency (carriers) in the specimens from girls (35%, 13/37).</p><p><b>CONCLUSIONS</b>RT-PCR sequencing has a high detection rate of G6PD gene mutation and a certain value in clinical diagnosis of G6PD deficiency.</p>


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Glucosephosphate Dehydrogenase , Genetics , Glucosephosphate Dehydrogenase Deficiency , Diagnosis , Genetics , Mutation , Reverse Transcriptase Polymerase Chain Reaction , Methods , Sequence Analysis, DNA
9.
Chinese Journal of Contemporary Pediatrics ; (12): 1188-1193, 2016.
Article in Chinese | WPRIM | ID: wpr-340542

ABSTRACT

Childhood malnutrition is an important disease threatening healthy growth of children worldwide. Gut microbiota has close links to food digestion, absorption and intestinal function. Current research considers that alterations in gut microbiota have been strongly implicated in childhood malnutrition. This review article addresses the latest understanding and evidence of interrelationship between gut microbiota and individual nutrition status, the changes of gut microbiota in different types of malnutrition, and the attribution of gut microbiota in the treatment and prognosis of malnutrition. It provides in depth understanding of childhood malnutrition from the perspective of microbiome.


Subject(s)
Child , Humans , Gastrointestinal Microbiome , Physiology , Malnutrition , Nutritional Status
10.
Chinese Journal of Contemporary Pediatrics ; (12): 332-336, 2015.
Article in Chinese | WPRIM | ID: wpr-346153

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate the efficiency of one-step multiplex RT-PCR for identifying four common fusion transcripts (TEL/AML1, E2A/PBX1, MLL/AF4 and BCR/ABL) in children with acute lymphoblastic leukemia (ALL).</p><p><b>METHODS</b>Total RNA was extracted from bone marrow samples of 76 children who were newly diagnosed with ALL between January 2003 and December 2010. These RNAs were analyzed for TEL/AML1, E2A/PBX1, MLL/AF4 and BCR/ABL by one-step multiplex RT-PCR or common nested-multiplex PCR. The PCR products were confirmed by DNA sequencing.</p><p><b>RESULTS</b>TEL/AML1 was found in 12 cases (the length of products was 298 bp in 9 cases and 259 bp in 3 cases), E2A/PBX1 was found in 3 cases (the length of products was 373 bp), BCR/ABL was found in 1 case (the length of products was 2 124 bp), and MLL/AF4 was found in 7 cases (the length of products was 427 bp in 1 case and 673 bp in 6 cases) using one-step multiplex RT-PCR combined with DNA sequencing. The results were consistent with those using common nested-multiplex PCR.</p><p><b>CONCLUSIONS</b>One-step multiplex RT-PCR may be another alternative for detection of common fusion transcripts in children with ALL.</p>


Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Male , Core Binding Factor Alpha 2 Subunit , Genetics , Fusion Proteins, bcr-abl , Genetics , Multiplex Polymerase Chain Reaction , Methods , Myeloid-Lymphoid Leukemia Protein , Genetics , Oncogene Proteins, Fusion , Genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Genetics , Reverse Transcriptase Polymerase Chain Reaction , Methods , Sequence Analysis, DNA
11.
Chinese Journal of Contemporary Pediatrics ; (12): 774-778, 2014.
Article in Chinese | WPRIM | ID: wpr-254201

ABSTRACT

This article summarizes the pathogenesis of hypercoagulability in β thalassemia patients, including platelet activation, alteration of red blood cell membranes, abnormal expression of adhesion molecules on vascular endothelial cells and iron overload. Clinical evidence, clinical manifestations of hypercoagulable state and thrombosis in β thalassemia and the effect of splenectomy on hypercoagulable state were reviewed. Strategies to prevent and treat the thromboembolic events in β-thalassemia intermedia are also discussed, including transfusion therapy to raise hemoglobin levels, avoidance or delay of splenectomy and a number of treatments in the exploration.


Subject(s)
Humans , Erythrocyte Aggregation , Thrombophilia , beta-Thalassemia
12.
Chinese Journal of Contemporary Pediatrics ; (12): 201-206, 2013.
Article in Chinese | WPRIM | ID: wpr-236838

ABSTRACT

<p><b>OBJECTIVE</b>To study the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and toxicities after high-dose methotrexate (HD-MTX) infusion in children with acute lymphocytic leukemia (ALL).</p><p><b>METHODS</b>MTHFR variants in 52 children with ALL were determined by reverse transcriptase-polymerase chain reaction-denaturing gradient gel electrophoresis and sequencing. Toxicities of children who received HD-MTX chemotherapy were evaluated according to the National Cancer Institute-Common Toxicity Criteria (NCI-CTC).</p><p><b>RESULTS</b>The children carrying MTHFR 1298AC had a higher risk of developing thrombocytopenia compared with the carriers of the 1298 AA genotype (OR=13.7, 95%CI=1.18-159.36, P=0.036). There was no significant difference in HD-MTX chemotherapy-related adverse effects between the patients with different MTHFR C677T or G1793A genotypes.</p><p><b>CONCLUSIONS</b>MTHFR A1298C polymorohism may associate with the toxicity of HD-MTX chemotherapy in children with ALL.</p>


Subject(s)
Child , Child, Preschool , Female , Humans , Male , Antimetabolites, Antineoplastic , Genotype , Methotrexate , Methylenetetrahydrofolate Reductase (NADPH2) , Genetics , Polymorphism, Genetic , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Drug Therapy , Genetics , Reverse Transcriptase Polymerase Chain Reaction
13.
Chinese Journal of Contemporary Pediatrics ; (12): 205-209, 2012.
Article in Chinese | WPRIM | ID: wpr-320684

ABSTRACT

<p><b>OBJECTIVE</b>To study the regulation of methylation inhibitor 5-aza-2'-deoxycytidine on transcription of EphB4 gene and effects on the proliferation and apoptosis of human acute lymphocyte leukemia cell line CEM.</p><p><b>METHODS</b>Bisulfite sequencing PCR was used to detect CpG island methylation density in EphB4 promoter. The expression of EphB4 mRNA and protein was determined by Q-PCR and Western blot. MTS assay and flow cytometry were used to detect the apoptosis of CEM cells after treatment with different concentrations of 5-aza-2'-deoxycytidine (1.0, 2.5 and 5 μmol/L).</p><p><b>RESULTS</b>Methylation of EphB4 gene promoter was detected in CEM cells (31.4%). The methylation level of EphB4 gene was down-regulated after treatment with various concentrations of 5-aza-2'-deoxycytidine. The EphB4 mRNA and protein expression in CEM cells increased after 5-aza-2'-deoxycytidine treatment. 5-Aza-2'-deoxycytidine significantly inhibited the cell growth in dose and time dependent manners. Early apoptosis rates of CEM cells increased from 4.1% to 24.8% 96 hrs after 5-aza-2'-deoxycytidine treatment. CEM cells in G1 phase decreased from 62.4% to 46.8%, cells in G2 phase increased from 2.1% to 16.2%, and CEM cells were arrested in G2 phase after treatment with 5 μmol/L 5-aza-2'-deoxycytidine for 96 hrs.</p><p><b>CONCLUSIONS</b>5-Aza-2'-deoxycytidine, an inhibitor of specific methylation transferase, can induce expression of the silent EphB4 gene in CEM cells, inhibit the proliferation of leukemia cells and induce cell apoptosis.</p>


Subject(s)
Humans , Apoptosis , Azacitidine , Pharmacology , Cell Cycle , Cell Line, Tumor , Cell Proliferation , DNA Methylation , DNA Modification Methylases , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Drug Therapy , Pathology , RNA, Messenger , Receptor, EphB4 , Genetics
14.
Chinese Journal of Contemporary Pediatrics ; (12): 260-263, 2012.
Article in Chinese | WPRIM | ID: wpr-320670

ABSTRACT

<p><b>OBJECTIVE</b>To study the relationship between glutathione S-transferase genes GSTT1 and GSTM1 polymorphisms and the susceptibility to infectious mononucleosis (IM) and acute lymphocytic leukemia (ALL) in children.</p><p><b>METHODS</b>The case-control study involved 106 children with IM, 41 children with ALL and a control group of 100 children with non-hematologic and nontumorous diseases. The genetic polymorphisms of GSTT1 and GSTM1 were detected with multiplex polymerase chain reaction (PCR). Distribution of the genotypes in the children was analyzed.</p><p><b>RESULTS</b>The frequency of GSTT1 null genotype in children with IM was significantly higher than in the control group (P<0.05). The risk of IM in children carrying GSTT1 null genotype was 2.186 times higher than in those carrying GSTT1 non-null genotype. The children carrying both GSTT1 and GSTM1 null genotype had a higher risk of suffering from IM compared to those carrying only one of the null genotypes (OR=4.937). The frequency of GSTM1 null genotype in children with ALL was significantly higher than in the control group (P<0.05). The risk of ALL in children carrying GSTM1 null genotype was 2.242 times higher than in those in carrying GSTT1 non-null genotype. Children carrying both GSTT1 and GSTM1 null genotype had a higher risk of suffering from ALL compared with those carrying only one of the null genotypes (OR=8.552).</p><p><b>CONCLUSIONS</b>Children carrying GSTT1 or GSTM1 null genotype have a high risk of suffering from IM or ALL. Still more increased susceptibility to IM or ALL may occur in children who carry both GSTT1 and GSTM1 null genotype. GSTT1 and GSTM1 might play a potential role in the pathogenesis of both IM and ALL.</p>


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Glutathione Transferase , Genetics , Infectious Mononucleosis , Genetics , Polymorphism, Genetic , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Genetics
15.
Chinese Journal of Contemporary Pediatrics ; (12): 689-692, 2012.
Article in Chinese | WPRIM | ID: wpr-353888

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the prevalence of attention deficit hyperactivity disorder (ADHD) and behavior problems among school-age children in Shenzhen City of Guangdong.</p><p><b>METHODS</b>A total of 10553 students in Grades 1-6 from different primary schools in Shenzhen City were assessed by Conners Parent Symptom Questionnaire (PSQ) and Conners Teacher Rating Scale (TRS). Children showing abnormalities according to PSQ or TRS were further assessed according to the diagnostic standard for ADHD as laid out in the diagnostic and statistical manual for mental disorders- 4th edition (DSM-Ⅳ).</p><p><b>RESULTS</b>A total of 8193 PSQ and TRS assessments were completed. The children were aged from 7 to 13 years. The total prevalence rate was 7.60% by PSQ and 5.59 % by TRS. Four hundred and forty-two children were diagnosed having ADHD by DSM-Ⅳ, with a prevalence rate of 5.39%. There were significant differences in the prevalence rate of ADHD among children aged 7 to 13 years (χ2=21.613, P<0.05). In children aged 7 to 9 years, the prevalence rate was higher (above 6%). The prevalence rate of ADHD in boys was significantly higher than in girls (6.65% vs 3.12%; P<0.05). Impulsion and hyperactivity (79.6%), learning (60.6%) and conduct disorders (52.0%) were the main behavioral problems in children with ADHD. The prevalence of learning disorders was higher in girls than in boys. Conclusions The prevalence rate of ADHD in children from primary schools in Shenzhen City is 5.39%, and it is higher in children aged 7 to 9 years. Boys have a higher prevalence rates of ADHD than girls. Impulsion and hyperactivity, learning and conduct disorders are common problems in children with ADHD.</p>


Subject(s)
Adolescent , Child , Female , Humans , Male , Attention Deficit Disorder with Hyperactivity , Diagnosis , Epidemiology , China , Epidemiology , Diagnostic and Statistical Manual of Mental Disorders , Prevalence , Surveys and Questionnaires
16.
Chinese Journal of Contemporary Pediatrics ; (12): 763-766, 2012.
Article in Chinese | WPRIM | ID: wpr-353870

ABSTRACT

<p><b>OBJECTIVE</b>To investigate mutations of anaplastic lymphoma kinase (ALK) in Chinese children with neuroblastoma (NB).</p><p><b>METHODS</b>Genomic DNA was extracted from 22 cases of paraffin-embedding NB tumor tissues. Gene mutations in the exons 20-26 which were mutational hotspots of ALK were analyzed by PCR-DNA direct sequencing.</p><p><b>RESULTS</b>A novel synonymous mutation C3586T (Leu1196Leu) and a known synonymous mutation C3375A (Gly1125Gly) were found and located at exon 23 and exon 21 of ALK respectively. There were 10 cases (46%) of known synonymous mutation C3375A in 22 cases of NB. The C3375A allelic frequency was 27%. No statistically significant correlation was found between mutation C3375A and clinical parameters of NB such as age, sex, metastasis and tumor differentiation. Mutation was not found in the other 5 exons.</p><p><b>CONCLUSIONS</b>A novel ALK gene synonymous mutation C3586T was identified using PCR-DNA sequencing. A known mutation C3375A in ALK was successfully identified in children, and its incidence is not influenced by the clinical features of childhood NB.</p>


Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Mutation , Neuroblastoma , Genetics , Polymerase Chain Reaction , Receptor Protein-Tyrosine Kinases , Genetics
17.
Chinese Journal of Contemporary Pediatrics ; (12): 110-113, 2012.
Article in Chinese | WPRIM | ID: wpr-272380

ABSTRACT

<p><b>OBJECTIVE</b>To study the status of iron deposition in patients with β-thalassemia intermedia and major in mainland China.</p><p><b>METHODS</b>The status of transfusion and chelation was examined in 39 patients with β-thalassemia intermedia or major. Serum ferritin levels were measured. MRI T2* technique was used to detect cardiac and hepatic iron deposition.</p><p><b>RESULTS</b>Serum ferritin levels ranged from the minimum of 1500 ng/mL up to a maximum of 11491 ng/mL. From liver MRI T2* measurement, 15 cases had severe hepatic iron deposition (38%) and moderate deposition was found in 15 cases (38%), mild in 7 cases (18%), and normal in 2 cases (5%). Heart MRI T2* showed severe heart iron deposition in 7 cases (18%), mild in 5 cases (13%), and normal in 27 cases (69%). One case had cardiac arrhythmia. Four cases were over 20 years of age, and presented with gonadal function hypoplasia. The majority of patients did not receive regular transfusion and they had delayed, suboptimal chelation due to financial problems. Serum ferritin level was closely related with timing and dosage of chelation.</p><p><b>CONCLUSIONS</b>In patients with β-thalassemia who do not receive early regular transfusion and iron chelation therapy, iron deposition may occur at an early age. Important organs and tissue functional lesions and related complications also result. Relevant agencies and family members should be aware of this trend and develop appropriate strategies to improve the medical condition and quality of life of patients with this disorder.</p>


Subject(s)
Adolescent , Adult , Child , Female , Humans , Male , Blood Transfusion , Ferritins , Blood , Iron , Metabolism , Liver , Metabolism , Magnetic Resonance Imaging , Methods , Myocardium , Metabolism , beta-Thalassemia , Metabolism , Therapeutics
18.
Journal of Experimental Hematology ; (6): 134-138, 2011.
Article in Chinese | WPRIM | ID: wpr-244969

ABSTRACT

The aim of this study was to investigate the in vitro effect of interleukin-24 (IL-24) on apoptosis of bone marrow mononuclear cells (BMMNC) in children with acute leukemia. Every group of acute lymphocytic leukemia (ALL) and acute myeloid leukemia (ANLL) had 20 children who did not receive any therapy. The bone marrow was taken from patients and controls, the MNC were isolated from bone marrow, DNA was detected by glucose electrophoresis. Apoptosis of BMMNC was assayed by flow cytometry with propidium iodine staining. RT-PCR was used to detect the expression level of bcl-2, caspase-3 mRNA, and to analyze the effect of IL-24 on them. The results showed that the IL-24 induced apoptosis of BMMNC in children with acute leukemia. After acute leukemia BMMNC were exposed to IL-24 for 48 hours, DNA ladder fragment appeared, and the apoptotic rate of the group treated with IL-24 of 50 ng/ml was obviously higher than that of the control group (0 ng/ml). IL-24 decreased the bcl-2 mRNA expression level, enhanced caspase-3 mRNA expression level of BMMNC from AL patients. It is concluded that the IL-24 can induce apoptosis of AL BMMNC in vitro, which may be due to decreasing of bcl-2 mRNA level and enhancing of caspase-3 mRNA level.


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Male , Acute Disease , Apoptosis , Bone Marrow Cells , Cell Biology , Caspase 3 , Metabolism , Interleukins , Pharmacology , Leukemia , Pathology , Proto-Oncogene Proteins c-bcl-2 , Metabolism
19.
Chinese Journal of Contemporary Pediatrics ; (12): 198-200, 2010.
Article in Chinese | WPRIM | ID: wpr-270389

ABSTRACT

<p><b>OBJECTIVE</b>To investigate possible differences in the prognosis in children with severe nocturia who received different drug withdrawal schedules.</p><p><b>METHODS</b>Ninety-seven children with severe nocturia were randomly assigned to two groups: control (n=47) and observed (n=50). The control group accepted drug withdrawal immediately, while the observed group accepted dose tapering gradually after a 12-week treatment course. The frequency of enuresis was observed three months after complete drug withdrawal.</p><p><b>RESULTS</b>During the treatment, the frequency of enuresis in all of children from both the control and the observed groups was reduced by over 90%. Forty-six children (92%) from the observed group showed the frequency of enuresis was reduced by over 90%, but 28 children (60%) from the control group (p<0.01) three months after the complete drug withdrawal. There were no significant differences in the adverse effect and the medication compliance between the two groups.</p><p><b>CONCLUSIONS</b>The different schedules of drug withdrawal may lead to different prognosis, and the schedule of gradual drug withdrawal may be superior to the immediate one in children with nocturnal enuresis.</p>


Subject(s)
Adolescent , Child , Female , Humans , Male , Deamino Arginine Vasopressin , Drug Administration Schedule , Nocturnal Enuresis , Drug Therapy
20.
Chinese Journal of Contemporary Pediatrics ; (12): 704-708, 2010.
Article in Chinese | WPRIM | ID: wpr-347503

ABSTRACT

<p><b>OBJECTIVE</b>To study the features of various subtypes of attention deficit hyperactivity disorders (ADHD) in children.</p><p><b>METHODS</b>Sex composition, risk factors, comorbidities, intelligence quotient and behavioral problems were investigated in 175 children with ADHD who met the Diagnostic Statistical Manual of Mental Disorder Criteria (DSM-IV). The children were classified into three groups: ADHD predominantly inattentive (ADHD-I, n=82), ADHD predominantly hyperactive-impulsive (ADHD-HI, n=24) and ADHD combined type (ADHD-C, n=69).</p><p><b>RESULTS</b>There were no significant differences in the sex composition among the three groups. The rates of birth abnormality in the ADHD-I and the ADHD-C groups were higher than those in the ADHD-HI group. Negative parenting practices were noted more frequently in the ADHD-HI and the ADHD-C groups than the ADHD-I group. There were no significant differences in the performance intelligence quotient (PIQ), verbal intelligence quotient (VIQ) and full intelligence quotient (FIQ) among the three groups. However, the incidence of imbalance between VIQ and PIQ in the ADHD-I group was higher than the other two groups. The rate of comorbidities with oppositional defiant disorder (ODD) and tic disorder (TD) in the ADHD-C and the ADHD-HI groups was higher than that in the ADHD-I group. Both the ADHD-I and the ADHD-C groups had a higher rate of comorbidities with learning disorder (LD) than the ADHD-HI group. The impulsive/hyperactive and conduct problems were more severe and the hyperactivity index was higher in the ADHD-C and the ADHD-HI groups than those in the ADHD-I group, while the learning difficulties in the ADHD-I group were the most severe.</p><p><b>CONCLUSIONS</b>The children with ADHD-C or ADHD-HI have higher incidences of comorbidities with ODD and TD than those with ADHD-I who the learning difficulties and the imbalance between VIQ and PIQ are more severe.</p>


Subject(s)
Adolescent , Child , Female , Humans , Male , Attention Deficit Disorder with Hyperactivity , Classification , Psychology , Intelligence , Learning Disabilities , Risk Factors
SELECTION OF CITATIONS
SEARCH DETAIL