Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 102
Filter
1.
Chinese Journal of Perinatal Medicine ; (12): 411-415, 2023.
Article in Chinese | WPRIM | ID: wpr-995116

ABSTRACT

Objective:To analyze the maternal and neonatal outcomes of pregnant women with leukemia.Methods:This retrospective study analyzed the clinical data of singleton pregnant women with leukemia and their neonates at the Obstetrics Department of Peking University People's Hospital from June 2009 to May 2021. Statistical analysis was performed using a two-sample t-test, the Wilcoxon Mann-Whitney rank sum test, and the Chi-square test (or Fisher's exact test). Results:(1) Ninety-one pregnant women were enrolled in this study, accounting for 2.8‰ of all deliveries during the same period. Among them, there were 15 (16.5%) with acute lymphoblastic leukemia, 38 (41.8%) with acute myeloid leukemia, and 38 (41.8%) with chronic myelogenous leukemia. Twenty-nine of the 91 pregnancies (31.9%) were terminated in the second or third trimester, and 62 babies (68.1%) were born through spontaneous delivery or cesarean section. The 62 parturients were (30.1±5.0) years old, of whom two died of complications of leukemia within 7 d after delivery, and five were transferred to the intensive care unit after delivery. Of the 62 cases, 18 (29.0%) received a blood transfusion and 12 (19.3%) received chemotherapy during pregnancy. (2) The proportion of patients with unremitted leukemia during pregnancy or newly developed leukemia was higher in women with terminated pregnancy than in those who continued the pregnancy [96.6% (28/29) vs 54.8% (34/62), χ2=15.83, P<0.001]. (3) The gestational age of the 62 newborns was (37.7±2.7) weeks. Premature, low birth weight and small-for-gestational-age infants accounted for 29.0% (18/62), 25.8% (16/62), and 12.9% (8/62), respectively. Hyperbilirubinemia occurred in 10 neonates (16.1%) and hypoglycemia in two (3.2%). Perinatal anoxia and asphyxia were reported in 13 cases (21.0%). Appearance, organ malformations, or chromosomal abnormalities were found in four neonates (6.4%) whose mothers did not receive chemotherapy during pregnancy. Fifty-nine infants underwent routine blood tests within 3 d after birth. The results showed that the mean white blood cell count, hemoglobin concentration, and platelet count were (16.1±7.0)×10 9/L, (181.5±20.0) g/L and (266.2±63.7)×10 9/L, respectively, and no juvenile cells were detected in their peripheral blood samples. Twenty children were followed up to 4 years and 4 months (9 months to 10 years and 3 months). No abnormalities in physical or mental development, motor function, or hematological system were reported. Conclusions:Pregnancy complicated by leukemia is rare and dangerous, which requires an individualized management strategy besides therapy for leukemia. A good prognosis is still expected with appropriate treatment.

2.
Chinese Journal of Applied Clinical Pediatrics ; (24): 566-570, 2023.
Article in Chinese | WPRIM | ID: wpr-990080

ABSTRACT

Objective:To investigate the prognosis of childhood adrenoleukodystrophy (ALD) with cognitive disorder after haploidentical allogenic hematopoietic stem cell transplantation (haplo-HSCT), and to identify risk factors affecting the prognosis.Methods:It was a single-center retrospective study involving 31 ALD children receiving haplo-HSCT in Peking University People′s Hospital from January 2014 to October 2022.Survival analysis was performed by Kaplan-Meier method. Cox regression analysis was performed to identify risk factors for the prognosis of childhood ALD following haplo-HSCT. Results:Among the 31 children with ALD, 1 case died of cardiogenic shock during the transplantation, and the remaining had a successful haplo-HSCT.Ten children with ALD had cognitive disorder before haplo-HSCT, including 3 cases with the minimal LOES score ≥10 points and 8 cases with the Neurologic Function Score (NFS)>0 point before haplo-HSCT.Six children had major functional disability (MFD) and 2 cases died due to progression of ALD after haplo-HSCT.Twenty children did not have cognitive disorder before haplo-HSCT, of whom 3 cases had the LOES score≥10 points and 6 cases had NFS>0 before haplo-HSCT.Four children had MFD and 2 cases died due to progression of ALD after haplo-HSCT.For ALD patients without cognitive disorder after haplo-HSCT, the 3-year and 5-year survival rate were 100.0% and 72.9%, respectively, and the 5-year MFD-free survival was 61.6%.For ALD patients with cognitive disorder after haplo-HSCT, the 3-year survival rate was 83.3%.Compared with ALD patients with the LOES score<10 points before haplo-HSCT, those with the LOES score≥10 points had 9.243 times the risk of developing MFD after haplo-HSCT ( P=0.024, 95% CI: 1.332-64.127). Compared with ALD patients without cognitive disorder before haplo-HSCT, ALD patients with cognitive disorder had 9.749 times the risk of developing MFD after haplo-HSCT ( P=0.023, 95% CI: 1.358-66.148). Conclusions:Cognitive disorder and LOES score≥10 points before haplo-HSCT are risk factors for developing MFD in children with ALD following haplo-HSCT.

3.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1567-1572, 2022.
Article in Chinese | WPRIM | ID: wpr-954790

ABSTRACT

Objective:To identify Down syndrome (DS) fetal encephalopathy related genes and signaling pathways via bioinformatics analysis, and to explore their potential mechanisms underlying the occurrence and development of DS neuropathology.Methods:Retrospective study.In December 2021, dataset GSE59630 was downloaded from the gene expression omnibus (GEO), and differentially expressed genes (DEGs) between DS and normal fetal brain tissue were identified by R software.Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis and gene set enrichment analysis (GSEA) were performed on the genes identified.The protein-protein interaction (PPI) network was constructed based on search tool for the retrieval of interacting genes online database and Cytoscape software, and key modules and hub DEGs were identified.Real-time quantitative polymerase chain reaction technique was used to verify the expression of hub genes related to neurodegeneration in brain tissue of 3 pairs of DS and normal fetuses at the gestational age of 22-33 weeks.Results:A total of 225 DEGs were screened out from DS and normal fetal brain tissue, including 18 up-regulated genes and 207 down-regulated genes.GO functional enrichment analysis showed that DEGs were mainly enriched in neurogenesis, neuronal apoptosis, transcriptional regulation, mitochondrial energy metabolism, etc.KEGG pathway enrichment analysis revealed that DEGs were associated with a variety of neurodegenerative diseases.GSEA suggested that apoptosis and inflammatory responses play a vital part in the occurrence of DS neuropathology.Ten hub genes were identified by the PPI network established, and they were mainly related to histone acetylation and transcriptional regulation.According to the tissue verification result, the variations of RAB8A, TBP and TAF6 expression conformed to the microarray data. Conclusions:The key genes and signaling pathways identified by transcriptome analysis of fetal brain tissue facilitate the comprehensive understanding of the molecular mechanism of DS neuropathology.This study provides a novel insight into the clinical diagnosis and treatment of neurodevelopmental abnormalities and mental retardation in DS.

4.
Journal of Peking University(Health Sciences) ; (6): 409-413, 2019.
Article in Chinese | WPRIM | ID: wpr-941828

ABSTRACT

OBJECTIVE@#X-linked adrenoleukodystrophy (ALD) is a severe inherited disorder leading to rapid neurological deterioration and premature death. Allogeneic hematopoietic stem cell transplantation (HSCT) is still the only treatment that halts the neurologic symptoms in ALD. However, many patients lack suitable human leukocyte antigen (HLA) matched related donors and must rely on alternative donors for a source of stem cells. The purpose of this study was to explore the outcomes of haploidentical allogeneic stem cell transplantation for ALD patients.@*METHODS@#Between December 2014 and December 2018, eight children with ALD lacking HLA matched related or unrelated donors were treated with haploidentical allogeneic hematopoietic stem cell transplantation. The patients received conditioning regimen with busulfan 9.6 mg/kg, cyclophosphamide 200 mg/kg and fludarabine 90 mg/m2. Graft-versus-host disease (GVHD) prophylaxis consisted of anti-human thymocyte globulin, cyclosporine A, mycophenolate mofetil and short course of methotrexate.@*RESULTS@#All the 8 children received allogeneic stem cell transplants from their fathers. The median age of the recipients was 8 (range: 5-12) years. The median age of the donors was 36 (range: 32-40) years. All the recipients received granulocyte colony-stimulating factor (G-CSF) mobilized bone marrow and peripheral blood-derived stem cells. The median number of total mononuclear cells dose and CD34+ dose was 10.89 (range: 9.40-12.16)×108/kg and 7.06 (range: 0.74-7.80)×106/kg, respectively. Neutrophil engraftment occurred a median of 11 days (range:8-13 days) after transplantation. Platelet engraftment occurred a median of 10 days (range:8-12 days) after transplantation. All the patients achieved complete donor chimerism at the time of engraftment. Four patients had grades II-IV acute GVHD and 1 had chronic graft-versus-host disease. No severe chronic GVHD occurred. Among all the children, 2 had cytomegalovirus (CMV) DNAemia and 2 Epstein-Barr virus (EBV) DNAemia. Overall, seven of them survived and had no major complications related to transplantation. One died of cerebral hernia after epilepsy 125 days after transplantation.@*CONCLUSION@#The preliminary observation demonstrates that haploidentical allogeneic stem cell transplantation with this novel regimen could successfully achieve full donor chimerism in ALD patients. According to our experience, haploidentical allogeneic hematopoietic stem cell transplantation is safe and feasible in the treatment of X-linked adrenoleukodystrophy.


Subject(s)
Adult , Child , Child, Preschool , Humans , Adrenoleukodystrophy/therapy , Bone Marrow Transplantation , Chromosomes, Human, X , Graft vs Host Disease , Hematopoietic Stem Cell Transplantation , Transplantation Conditioning
5.
Chinese Journal of Applied Clinical Pediatrics ; (24): 854-858, 2019.
Article in Chinese | WPRIM | ID: wpr-800983

ABSTRACT

Objective@#To investigate the significance of endoplasmic reticulum stress-associated gene tri-bbles pseudokinase 3 (TRIB3) in the long-term brain injury in rats with developing epilepy.@*Methods@#Thirty male SD rats aged 21 days were randomly divided into the control group and the epilepsy group, 15 rats in each group.The rats in the epilepsy group were intraperitoneally injected with kainic acid (10 mg/kg) to induce seizures, while the rats in the control group were injected with the equal volume of 9 g/L saline.The rats in two groups were euthanized at 30 d after kainic acid administration.The damage to the ultrastructure of the cortex were observed by using transmission electron microscopy.Neuronal apoptosis in the cortex of rats was detected by terminal-deoxynucleoitidyl transferase mediated nick end labeling (TUNEL) assay.The expression and localization of glucose regulated protein 78 (GRP78), CCAAT/enhancer binding protein-homologous protein (CHOP), TRIB3, and the activation of protein kinase B (AKT) in the cortex were examined by using Western blot analysis and immunohistochemistry.@*Results@#Compared with the control group, the different ultrastructural changes were observed in the cortex in the epilepsy group rats.TUNEL assay indicated that the number of apoptosis cells of cortex in the epilepsy group was increased.The protein levels of GRP78 and TRIB3 were upregulated in the cortex of the epileptic rats (1.280±0.272, 1.725±0.570), compared with the control group (1.000±0.000, 1.000±0.000), and the differences were statistically significant (all P<0.05). There was no significant change in CHOP protein between the control group and the epilepsy group.The level of phosphorylated AKT(p-AKT) was decreased in the cortex of the epilepsy group (0.150±0.047), compared with the control group (1.000±0.000), and the difference was statistically significant (P<0.05).@*Conclusions@#The brain injury caused by epilepsy in the developing rats can sustain to the stage of mature rats, and the endoplasmic reti-culum stress-associated gene TRIB3 is involved in the pathogenesis of long-term brain damage in the rats with deve-loping epilepsy.

6.
Chinese Journal of Medical Genetics ; (6): 331-335, 2019.
Article in Chinese | WPRIM | ID: wpr-772014

ABSTRACT

OBJECTIVE@#To report on a case of 10p15.3 microdeletion syndrome and to explore its clinical and molecular characteristics.@*METHODS@#The patient was subjected to whole exome sequencing (WES), with his clinical features discussed in the light of literature review.@*RESULTS@#The patient presented with global developmental delay, hypotonia, autistic-like traits, mild facial dysmorphism and other features including short stature, small hands and feet, congenital heart disease and feeding difficulty. WES has detected deletions of ZMYND11, DIP2C, LARP4B, TUBB8, GTPBP4, IDI2, IDI1, WOR37 and ADARB2 genes on the short arm of chromosome 10. Among these, ZMYND11 gene been previously associated with intellectual disability.@*CONCLUSION@#The patient's phenotype was closely correlated with that of 10p15.3 microdeletion syndrome. Haploinsufficiency of the ZMYND11 gene may underlie the manifestations of 10p15.3 microdeletion syndrome.


Subject(s)
Humans , Carrier Proteins , Chromosome Deletion , Chromosomes, Human, Pair 10 , Exome , GTP-Binding Proteins , Intellectual Disability , Nuclear Proteins , Phenotype , Tubulin , Exome Sequencing
7.
Chinese Journal of Applied Clinical Pediatrics ; (24): 854-858, 2019.
Article in Chinese | WPRIM | ID: wpr-752317

ABSTRACT

Objective To investigate the significance of endoplasmic reticulum stress _associated gene tri_bbles pseudokinase 3(TRIB3)in the long_term brain injury in rats with developing epilepy. Methods Thirty male SD rats aged 21 days were randomly divided into the control group and the epilepsy group,15 rats in each group. The rats in the epilepsy group were intraperitoneally injected with kainic acid(10 mg/kg)to induce seizures,while the rats in the control group were injected with the equal volume of 9 g/L saline. The rats in two groups were euthanized at 30 d after kainic acid administration. The damage to the ultrastructure of the cortex were observed by using transmission elec_tron microscopy. Neuronal apoptosis in the cortex of rats was detected by terminal_deoxynucleoitidyl transferase media_ted nick end labeling( TUNEL)assay. The expression and localization of glucose regulated protein 78( xRP78), CCAAT/enhancer binding protein _ homologous protein( CHOP ),TRIB3,and the activation of protein kinase B (AKT)in the cortex were examined by using Western blot analysis and immunohistochemistry. Results Compared with the control group,the different ultrastructural changes were observed in the cortex in the epilepsy group rats. TUNEL assay indicated that the number of apoptosis cells of cortex in the epilepsy group was increased. The protein levels of xRP78 and TRIB3 were upregulated in the cortex of the epileptic rats(1. 280 ± 0. 272,1. 725 ± 0. 570),com_pared with the control group(1. 000 ± 0. 000,1. 000 ± 0. 000),and the differences were statistically significant( all P<0. 05). There was no significant change in CHOP protein between the control group and the epilepsy group. The level of phosphorylated AKT(p_AKT)was decreased in the cortex of the epilepsy group(0. 150 ± 0. 047),compared with the control group(1. 000 ± 0. 000),and the difference was statistically significant(P<0. 05). Conclusions The brain injury caused by epilepsy in the developing rats can sustain to the stage of mature rats,and the endoplasmic reti_culum stress_associated gene TRIB3 is involved in the pathogenesis of long_term brain damage in the rats with deve_loping epilepsy.

8.
Chinese Journal of Applied Clinical Pediatrics ; (24): 909-912, 2018.
Article in Chinese | WPRIM | ID: wpr-696528

ABSTRACT

Objective To explore the changes of Beclin-1,P62/SQSTM1,microtubule-associated protein 1 light chain 3 (LC3)and unc-51 like autophagy activating kinase 1 (ULK-1)in the brains of the rats in the deve-lopmental stage with epilepsy. Methods Seventy-two male Sprague Dawley (SD)rats aged 21 days were randomly divided into the control group and the epilepsy group. The rats in 2 groups were randomly subdivided into 4 groups according to the time intervals (3 h,6 h,12 h and 48 h),respectively,with 9 rats in each group. The rats in the epilep-sy group were injected with kainic acid (12 mg/kg)to induce epilepsy,and the rats in the control group were injected with equal volume of saline. The rats in 2 groups were anaesthetized and sacrificed. Then,the brain tissues of the rats were quickly removed according to the time intervals. The brain damages were determined by adopting Nissl staining method. The apoptotic cells were detected by Terminal - deoxynucleoitidyl transferase mediated nick end labeling (TUNEL)assays. The expressions of Beclin-1,P62/SQSTM1,LC3 and ULK-1 mRNA levels in cortex were mea-sured by using real-time quantitative polymerase chain reaction (qPCR)analysis. Results Nissl staining indicated that many neurons were damaged performing vague outline,irregularly aligned,pyknotic nuclei and shrunken somata in the epilepsy 48 h group. In addition,there was a huge loss of neurons in cortex in the epilepsy 48 h group [(82 ± 8)num-bers],compared with the control group [(122 ± 8)numbers],and the difference was statistically significant (F=3. 768, P=0. 01). The apoptotic cells tremendously increased in the epilepsy 48 h group [(13 ± 7)numbers],compared with the control group [(2 ± 1)numbers]by TUNEL analysis,and the diffe-rence was statistically significant (t= -3. 821, P=0. 003). qPCR showed the mRNA levels of Beclin-1,P62/SQSTM1,LC3 and ULK-1 were upregulated in the epi-lepsy 12 h group (1. 70 ± 0. 75,1. 75 ± 0. 77,1. 52 ± 0. 43,7. 48 ± 6. 12)and the epilepsy 48 h group (1. 63 ± 0. 43, 1. 48 ± 0. 74,1. 74 ± 0. 55,7. 69 ± 5. 65),compared with the control group (1. 00,1. 00,1. 00,1. 00),and the differences were statistically significant (F=2. 820,3. 452,5. 811,5. 002,all P<0. 05). Conclusion The autophagy activates be-fore apoptosis occurs,and autophagy-related genes probably are involved in epilepsy-induced brain damage.

9.
Chinese Journal of Pediatrics ; (12): 414-420, 2018.
Article in Chinese | WPRIM | ID: wpr-809979

ABSTRACT

Objective@#To analyz the current situation of the diagnosis, treatment and prevention of methylmalonic acidemia, the phenotypes, biochemical features and genotypes of the patients in the mainland of China, were investigated.@*Methods@#Tottally 1 003 patients of methylmalonic acidemia from 26 provinces and municipalities of the mainland of China were enrolled. The clinical data, biochemical features and gene mutations were studied. Blood aminoacids and acylcarnitines, urine organic acids, and plasma total homocysteine were determined for the biochemical diagnosis. Gene analyses were performed for the genetic study of 661 patients. The patients were treated with individual intervention and long-term follow up. Prenatal diagnoses were carried out for 165 fetuses of the families.@*Results@#Among 1 003 patients (580 boys and 423 girls), 296 cases (29.5%) had isolated methylmalonic acidemia; 707 cases (70.5%) had combined homocysteinemia; 59 patients (5.9%) were detected by newborn screening; 944 patients (94.1%) had the onset at the ages from several minutes after birth to 25 years and diagnosed at 3 days to 25 years of age. The main clinical presentations were psychomotor retardation and metabolic crisis. Multi-organ damage, including hematological abnormalities, pulmonary hypertension, kidney damage, were found. MMACHC, MUT, MMAA, MMAB, HCFC1, SUCLG1, SUCLA2 mutations were found in 631 patients (96.6%) out of 661 patients who accepted gene analysis. MMACHC mutations were detected in 460 patients (94.7%) out of 486 cases of methylmalonic acidemia combined with homocysteinemia. MUT mutations were found in 158 (90.3%) out of 169 cases of isolated methylmalonic acidemia. The development of 59 patients detected by newborn screening were normal; 918 cases (97.2%) were diagnosed after onset accepted the treatment. Forty-five of them completely recovered with normal development. Twenty-six patients (2.7%) died; 873 (92.5%) patients had mild to severe psychomotor retardation. Methylmalonic acidemia were found in 35 out of 165 fetuses by metabolites assay of amniotic fluid and amniocytes gene analysis.@*Conclusion@#Combined methylmalonic acidemia and homocysteinemia is the common type of methylmalonic acidemia in the mainland of China. CblC defect due to MMACHC mutations is the most common type of methylmalonic acidemia combined with homocysteinemia. MUT gene mutations are frequent in the patients with isolated methylmalonic acidemia. Newborn screening is key for the early diagnosis and the better outcome. Combined diagnosis of biochemical assays and gene analysis are reliable for the prenatal diagnosis of methylmalonic acidemia.

10.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1877-1881, 2018.
Article in Chinese | WPRIM | ID: wpr-733355

ABSTRACT

Objective To research ketogenic diet(KD) adjustment for the balance of helper T cell subsets in peripheral blood of children with refractory epilepsy (CRE).Methods Forty-two CRE children admitted to Children's Hospital Affiliated to Zhengzhou University from January 2015 to May 2016 were retrospectively analyzed.All the CRE patients were treated with KD,and the data before and after treatment were collected.During the same period,40 healthy children were taken as the healthy control group.The changes of the compositions of helper T cells 17(Thl7),regulatory T cells (Treg) and helper T cells 1 (Th1) in each group were recorded.Meanwhile,m RNA expression of Th17,Treg and Th1 related factors were detected,and plasma levels of inflammatory cytokines were analyzed before and after treatment.Results There were less Treg cells [(1.75 ± 0.53) %] in children with CRE compared with the healthy control group [(3.97 ± 0.28)%],but more Th1[(12.25 ± 1.03)%] and Th17 cells [(2.89 ±0.68)%]compared with the healthy control group [(7.75 ± 2.42) %,(1.86 ± 0.57) %] (t =23.542,11.049,7.415,all P <0.05).The mRNA expression of interleukin-17A (IL-17A),gamma-interferon (IFN-γ),in the CRE group before treatment [(2.46 ± 0.75) × 10-4,(1.48 ± 0.64) × 10-2],were significantly higher than those in the healthy control group [(0.91 ±0.24) × 10-4,(0.47 ±0.11) × 10-2].The mRNA expression levels of cytotoxic T lymphocyte associated antigen 4 (CTLA-4) and tumor necrosis factor receptor (GITR) in the pre-treatment group of CRE children[(20.02 ± 6.57) × 10-2;(12.42 ± 6.46) × 10-5] were significantly lower than the healthy control group [(26.57 ± 6.75) × 10-2;(16.31 ± 4.18) × 10-5];the difference was statistically significant (F =4.697,5.232,4.981,3.872,all P < 0.05).After treatment,mRNA expression levels of IL-17A [(1.20 ± 0.44) × 10-4],IFN-γ[(0.7 ±0.41) × 10-2],CTLA-4 [(10.72 ±2.99) × 10-2] and GITR [(6.04 ±2.51) × 10-5] were significantly decreased compared with the level of pre-treatment group [(2.46 ± 0.75) × 10-4,(1.48 ± 0.64) × 10-2,(20.02 ±6.57) × 1 0-2,(12.42 ± 6.46) × 10-5,p < 0.05].The levels of IL-17 A,IFN-γ,Cyclooxygenases-2 (COX-2)and Prostaglandin F2α (PGF2α) in children with CRE the level of pre-treatment group [(26.52 ± 6.17) ng/L,(11.19 ± 3.15) ng/L,(2.14 ± 1.31) ng/L,(205.74 ± 32.30) ng/L] were significantly higher than those in the healthy control group [(13.93 ± 2.98) ng/L,(8.87 ± 1.09) ng/L,(1.04 ± 0.33) ng/L,(109.80 ± 38.74) ng/L](F=5.361,3.987,3.654,11.370,all P < 0.05).The levels of IL-17A [(18.48 ± 6.18) ng/L],IFN-γ[(9.54±1.42) ng/L],COX-2 [(1.46 ±0.72) ng/L] and PGF2α[(126.13±13.07) ng/L]in CRE children were reduced after KD adjustment [(26.52 ± 6.17) ng/L,(1 1.19 ± 3.15) ng/L,(2.14 ± 1.31) ng/L,(205.74 ±32.30) ng/L],and the differences were statistically significant (all P < 0.05).Conclusions KD adjustment may have a beneficial effect on balance of peripheral blood in children with CRE.KD adjustment is positively correlated with the level of factors related to Th cells and inflammatory cytokines.

11.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1108-1110, 2017.
Article in Chinese | WPRIM | ID: wpr-611869

ABSTRACT

Objective To investigate the clinical features,karyotype,and the prenatal diagnosis for his sibling of a Chinese patient with rare ring chromosome 20 syndrome induced intractable epilepsy.Methods The clinical data of the patient diagnosed in Peking University People's Hospital were collected.The clinical manifestations,chromosome karyotype were summarized.Results The proband,a boy,started to show intermittent tonic seizures or atypical absence seizures and psychomotor retardation from the age of 11 months.Several anti-epilepsy drugs and globulin had been tried without effect.Common karyotype analysis and epilepsy-related genes analysis revealed no abnormality.However,abnormal karyotype 46,XY,r(20)(p13q13.3) in his peripheral blood lymphocytes was found by high resolution chromosome karyotype analysis with 550 G-banding,and the diagnosis of ring chromosome 20 syndrome,type Ⅱ was confirmed.The mother of the patient underwent amniocentesis at the midterm of the second pregnancy.The cultured amniocytes karyotypes were normal.The second child(a boy) of the family was 1 year old without epilepsy and the psychomotor development was normal.Conclusions Ring chromosome 20 syndrome is a rare human chromosome abnormality.The syndrome is associated with epileptic seizures,behavior disorders and mental retardation.Since karyotype testing is not a routine investigation for the patient with epilepsy,the diagnosis of ring chromosome 20 syndrome is usually delayed or misdiagnosed.The karyotype analysis should be considered for the etiological study of the patients with intractable epilepsy with unknown origin.

12.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1912-1914, 2017.
Article in Chinese | WPRIM | ID: wpr-665711

ABSTRACT

Ketogenic diet(KD)has an auxiliary treatment for refractory epilepsy. It is recently demonstrated by clinical practice and researches that KD is effective in some children with refractory epilepsy. Despite much progress has been made on the anticonvulsant mechanisms of KD,no biological target related to clinical efficacy has been found so far. The biochemical characteristics of KD and its metabolic changes are discussed(including the roles of neuronal γ -aminobutyric acid,glutamate,ATP sensitive potassium channels and purine metabolism,and so on). The mechanism and recent progress of KD in the treatment of refractory childhood epilepsy are reviewed.

13.
Chinese Journal of Contemporary Pediatrics ; (12): 787-791, 2016.
Article in Chinese | WPRIM | ID: wpr-340619

ABSTRACT

Posterior reversible encephalopathy syndrome (PRES) is a clinico-neuroradiological entity affecting the posterior brain, i.e. occipital and parietal lobes. The syndrome are characterized by headaches, altered mental status, seizures, and visual disturbances. Although the pathogenesis remains unclear, endothelial dysfunction may be a key factor. The basic disease may play a crucial role in the incidence of PRES. In most cases, PRES resolves spontaneously and patients show both clinical and radiological improvements. In severe forms, PRES might cause substantial morbidity with sequel and even mortality, as a result of acute hemorrhage or massive posterior fossa edema causing obstructive hydrocephalus or brainstem compression. Early identification, active and appropriate treatment is very important.


Subject(s)
Child , Humans , Diagnosis, Differential , Posterior Leukoencephalopathy Syndrome , Diagnostic Imaging , Therapeutics , Prognosis
14.
Chinese Journal of Applied Clinical Pediatrics ; (24): 891-893, 2016.
Article in Chinese | WPRIM | ID: wpr-497784

ABSTRACT

Epilepsy is one of the most common diseases in children.The diagnosis,classification and treatment of epilepsy are improving gradually and meet with the international standards.However,the understanding of the clinical significance of epilepsy combined with the mental and behavioral problems is not sufficient,which leads to the backlogging of the diagnosis and intervention of the co-morbidity,and further affects the long-term prognosis.The prevalence of epilepsy co-morbid with attention deficit hyperactivity disorder (ADHD) is high,which seriously affects the quality of the lives in children and their families.Timely diagnosis and standardized treatment is very important for the clinical workers to improve the long-term prognosis of these children.In this paper,the possible mechanism,the disease characteristics,the standardized diagnosis and treatment of epilepsy combined with ADHD,are briefly introduced.

15.
Chinese Journal of Applied Clinical Pediatrics ; (24): 561-564, 2016.
Article in Chinese | WPRIM | ID: wpr-489755

ABSTRACT

Humans typically have 22 pairs of autosomal chromosomes in cells,and a pair of sex chromosomes.Some individuals have an extra,autosomal chromosome called a small supernumerary marker chromosome (sSMC).sSMC is a structurally abnormal chromosome fragment.The fragments are too small and no-specific banding pattern to be identified by conventional banding cytogenetic analysis.Array-based comparative genomic hybridization (aCGH),fluorescence in situ hybridization (FISH) or other molecular biological methods are necessary for the diagnosis.This article summarized the karyotype,pathogenesis,and the clinical manifestations of the sSMC-related chromosome 18p abnormalities.The patients with sSMC usually presented with abnormal chromosome syndrome.Some syndromes are relative common,such as Pallister-Killian syndrome,isochromosome 18p syndrome,Cat eye syndromes or Emanuel syndrome.sSMC is considered to be the frequent cause of mental retardation.The patients have no specific symptoms.With the progress of molecular cytogenetics,more sSMC has been identified.Genetic counseling and prenatal diagnosis are important to prevent sSMC.Molecular cytogenetic techniques are necessary to the diagnosis.

16.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1915-1917, 2015.
Article in Chinese | WPRIM | ID: wpr-489744

ABSTRACT

Study of the phosphatidylinositol 3-kinase (PI3K)/protein kinase B (Akt)/mammalian target of rapamycin (mTOR) signaling pathway has been becoming more and more popular.This pathway widely exists in kinds of cells of human being.As one main anti-apoptic and enhancing survival pathway in cells, it plays an important role in cellular growth (increased cell size), proliferation (increased cell number), apoptosis, cell survival and migration.At the same time,the pathway regulates many major cellular processes and is implicated in an increasing number of pathological conditions, including cancer, obesity, type 2 diabetes, and neurodegeneration disease, epilepsy.In recent years,many studies have shown that the dysfunction of PI3K/Akt/mTOR signaling pathway can lead to neurodevelopmental disease.Loss of tuberous sclerosis complex (TSC)1/2 or phosphatase ad tensin homologue deleted on chromosome 10 (PTEN), or environmental stimuli such as inflammation, epilepsy, or hypoxia may stimulate mTOR-dependent protein synthesis,resulting in a host of cellular, structural, and physiological responses that culminate in clinical symptoms.Study the role of mTOR signaling pathway in early-onset epileptic encephalopathy, discuss the intervention and therapy in early-onset epileptic encephalopathy have important clinical meanings.In this article, the components, physiological functions,information were elucidated relative to the PI3 K/Akt/mTOR signaling pathway, and the interaction of the signaling pathway and epilepsy was discussed.

17.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1278-1280, 2015.
Article in Chinese | WPRIM | ID: wpr-480161

ABSTRACT

Pseudohypoparathyroidism(PHP) is a rare genetic disorder.The main character is parathyroid hormone resistance,and some with typical Albright's Hereditary Osteodystrothy malformation.The wide range of PHP symptom spectrum may lead to miss or misdiagnosis.This paper reviewed and summarized the pathogenesis,manifestation and the progress on the diagnosis and treatment of PHP Ⅰ,so as to improve the diagnostic level of this disease.

18.
Chinese Journal of Pediatrics ; (12): 292-297, 2014.
Article in Chinese | WPRIM | ID: wpr-288743

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the relationship between the ictal onset zone and dominant interictal epileptiform foci in tuberous sclerosis complex (TSC) patients.</p><p><b>METHOD</b>Clinical data of 20 patients with TSC which had epileptic seizures during Video-EEG monitoring was assessed. Consistency and dominance of focal interictal epileptiform activity and the ictal onset zone were identified. Concordance between interictal and ictal findings was analyzed.</p><p><b>RESULT</b>Of the 20 patients, 7 were female, and 13 were male. The age of epilepsy onset was from 15 d to 6 years. The Video-EEG monitoring age was from 6 months to 11 years. Family history was found in three cases. Abnormality in neuroimaging existed in 17 of 18 patients who were examined. Interictal EEG showed hypsarrhythmia in 3 patients, multifocal epileptiform activity with a dominant focus in 12 patients, both focal and generalized discharges in 2 patients, and only focal discharges in 3 patients. The seizures types during EEG monitoring included epileptic spasms, partial seizure, atypical absence, and generalized or focal myoclonic seizure. The most common seizure type was partial seizure and then epileptic spasms. EEG in 4 patients with epileptic spasms showed ictal generalized discharges and interictal hypsarrhythmia or generalized discharges. Clinical manifestation of epileptic spasms was asymmetric in 3 patients. Lateralization and location of interictal and ictal discharges were consistent in 2 of the 3 patients, while only lateralization consistency in 1 of the 3 patients. Partial seizures as the only seizure type were monitored in 13 patients. Of the 13 patients, lateralization and location of interictal and ictal discharges were inconsistent in 2 patients (15%), consistent in 8 patients (62%), lateralization or location consistent in 2 patients (15%). One case could not be analyzed because of uncertainty of lateralization and location of seizure onset.</p><p><b>CONCLUSION</b>In the majority of patients with TSC, multifocal interictal epileptiform activity is present, in which a most dominance of focal epileptiform activity could be found. For some epileptic seizures or the majority of partial seizures, the ictal onset zone is concordant with the dominance of focal interictal epileptiform foci. The concordance might have positioning reference significance for preoperative evaluation of epilepsy surgery.</p>


Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Brain , Pathology , Brain Mapping , Methods , Cerebral Cortex , Pathology , Electroencephalography , Epilepsies, Partial , Diagnosis , Magnetic Resonance Imaging , Predictive Value of Tests , Retrospective Studies , Seizures , Diagnosis , Tuberous Sclerosis , Diagnosis
19.
Chinese Journal of Pediatrics ; (12): 678-682, 2014.
Article in Chinese | WPRIM | ID: wpr-345718

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate the therapeutic effect of methylprednisolone for electrical status epilepticus during sleep (ESES) in children.</p><p><b>METHOD</b>The clinical and EEG data of 82 epilepsy patients with ESES, which included benign childhood epilepsy with centro temporal spikes (BECT) variants, epilepsy with continuous spikes and waves during slow sleep (CSWS) , Landau-Kleffner syndrome (LKS) collected from department of pediatrics, Peking University First Hospital were analyzed from July 2007 to September 2012. During ESES period, all patients received methylprednisolone treatment for three courses, which included methylprednisolone intravenous infusion for three days, followed by oral prednisone for four days every time. After three courses, prednisone [1-2 mg/(kg × d)] were taken by all patients for 6 months. The ESES phenomenon and seizures were observed before and after treatment. The efficacy of corticosteroid on ESES suppression, seizure control of three epilepsy syndrome were analyzed.</p><p><b>RESULT</b>Thirty-nine cases were male and 43 cases were female. The epilepsy syndromes included 49 patients diagnosed as benign childhood epilepsy with centrotemporal spike (BECT) variants, 27 patients diagnosed as epilepsy with continuous spikes and waves during slow sleep (CSWS), and 6 patients diagnosed as LKS. Age of onset ranged from 1 year and 4 months to 11 years. The age of ESES newly monitored was from 2 years to 10 years and 8 months. The total effective rate of corticosteroid was 83% (68/82) for ESES, BECT variants was 82% (40/49), CSWS was 81% (22/27), LKS was 100% (6/6). There was no statistically significant difference in effective rates between the front two (χ² = 0.09, P > 0.05). The seizures were improved in the first month after methylprednisolone treatment in 3 epilepsy syndromes. The recurrence rate of BECT variants was 47% (23/49) , CSWS was 59% (16/27) , LKS was 50% (3/6) after 1 year follow up. There was no association between disease parameters, including age at seizure onset, duration of ESES and the treatment effect of ESES examined by Kruskal-Wallis method (χ² = 3.585, 0.932, P > 0.05).</p><p><b>CONCLUSION</b>Methylprednisolone was effective for improving ESES and seizures in 3 epilepsy syndromes combined with ESES. There was no significant correlation between age at seizure onset, duration of ESES and treatment effect of ESES.</p>


Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Male , Adrenal Cortex Hormones , Therapeutic Uses , Electroencephalography , Landau-Kleffner Syndrome , Drug Therapy , Methylprednisolone , Therapeutic Uses , Pediatrics , Seizures , Sleep , Physiology , Status Epilepticus , Drug Therapy , Treatment Outcome
20.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1520-2014.
Article in Chinese | WPRIM | ID: wpr-601941

ABSTRACT

Base on the definition,classification and diagnostic condition of cerebral palsy published by Pediatrics Neurology Group of Chinese Medical Association in 2005 and Child Rehabilitation Committee of Chinese Rehabilitation Medical Association in 2007.Referencing foreign diagnosis and treatment guidelines for child with cerebral palsy and the current paper report,going through more than once discussion,compiled by Chinese Compiling Committee of Rehabilitation and Treatment Guidelines for Cerebral Palsy so as to guide comprehension of the definition of cerebral palsy,enhance the level of diagnosis and classification of cerebral palsy for clinic doctor and all so acting on international convention.

SELECTION OF CITATIONS
SEARCH DETAIL