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1.
Article in Chinese | WPRIM | ID: wpr-965842

ABSTRACT

ObjectiveCentral nervous system (CNS) infiltration commonly occurs in children with acute lymphoblastic leukemia (ALL). Early subclinical CNS infiltration in pediatric ALL is hard to detect with conventional methods. This study aimed to investigate the changes of brain structure volume parameters based on Synthetic MRI (SyMRI) in pediatric ALL without clinically diagnosed CNS infiltration. MethodsThirty-six ALL and twenty-nine typically developing (TD) children were prospectively collected and all underwent SyMRI. The Synthetic MR software was used to obtain brain volumetric parameters including total white matter volume (WMV), gray matter volume (GMV), cerebrospinal fluid (CSF) volume, etc. and their within-group differences were assessed by analysis of covariance. The Spearman correlation analysis was used to examine the correlation between biological characteristics and statistically significant brain volume parameters. ResultsALL children showed increased CSF volume (PFDR-corrected = 0.009) and decreased GMV (PFDR-corrected = 0.027) when compared to TD children. We also found a moderately negative association between GMV/intracranial volume and risk classification in pediatric ALL (rs = -0.380, P = 0.022). ConclusionsPediatric ALL without clinically diagnosed CNS infiltration presented with accumulation of CSF and reduction of gray matter. The brain volumetric changes in subclinical CNS infiltration of pediatric ALL provides a new attempt for exploring the underlying mechanism and early detection of CNS infiltration in pediatric ALL.

2.
Chinese Journal of Biologicals ; (12): 124-127, 2023.
Article in Chinese | WPRIM | ID: wpr-965590

ABSTRACT

@#Abstract:Pyroptosis is a new programmed cell death mode,which plays a dual role in the pathogenesis of hepatocellular carcinoma(HCC). On the one hand,inflammasomes causing pyroptosis and inflammatory mediators released during cell pyroptosis promote the occurrence and development of HCC;On the other hand,pyroptosis can inhibit the proliferation, metastasis and invasion of HCC cells. With the deepening of research,the role of pyroptosis in HCC has become increasingly prominent. This paper reviews the potential effects of pyroptosis on the progression of HCC and its role in anticancer therapy. Keywords:Pyroptosis;Inflammasome;Hepatocellular carcinoma(HCC);Gasdermin D(GSDMD)

3.
Article in Chinese | WPRIM | ID: wpr-955204

ABSTRACT

Cholangiocarcinoma (CCA) is a category of highly heterogeneous and aggressive malignancy mainly originating from bile duct epithelial cells. The median survival time of untreated CCA patients is approximately 12?24 months, and the effectiveness and durability of surgical resection and neoadjuvant chemotherapy are limited. Results of the next-generation sequencing show that dysregulation of the immune system plays an important role in the pathogenesis of CCA. It has opened up new possibilities for the study of therapies targeting the natural course of aggressive CCA, such as immune checkpoint inhibitors, adoptive cell therapy, and tumor vaccines. Based on the current status of immunotherapy for CCA, the authors review the efficacy and dilemmas of current CCA immunotherapy strategies and look forward to the future treatment prospects of CCA.

4.
Chinese Journal of Digestion ; (12): 478-484, 2022.
Article in Chinese | WPRIM | ID: wpr-958337

ABSTRACT

Objective:To analyze the independent risk factors of ulcerative colitis (UC) with thromboembolism (TE), in order to diagnose UC with TE as early as possible and take corresponding preventive measures, so as to improve the prognosis and reduce the mortality of UC with TE.Methods:From January 1, 2011 to December 31, 2020, at the First Affiliated Hospital of Xinjiang Medical University, from January 1, 2015 to December 31, 2020, at the Second Affiliated Hospital of Xinjiang Medical University, from January 1, 2015 to December 31, 2020, at the Fifth Affiliated Hospital of Xinjiang Medical University, during hospitalization 46 patients diagnosed with UC with TE were enrolled. According to the ratio of 1∶2, at same period 92 simple UC patients were selected as control. The condition of embolization of UC patients with TE was analyzed. The clinical data(hypertension history, length of hospital stay, etc.), the degree of disease activity, laboratory test indicators (prothrombin time (PT), D-dimer, fibrin degradation product(FDP), hemoglobin(Hb), mean platelet volume(MPV), erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), etc.)of the patients of UC with TE and UC without comorbidities were compared. Multivariate logistic regression was used to analyze the independent risk factors of UC with TE. Independent sample t test, Mann-Whitney U test, Chi-square test or Fisher′s exact probability method were used for statistical analysis. Results:Among the 46 cases of UC with TE, 14 cases (30.4%) had single site venous TE, mainly venous thrombosis of lower limbs; 20 cases (43.5%) had single site arterial TE, mainly myocardial infarction and cerebral infarction; 12 cases (26.1%) had multi-site TE. The proportion of patients with hypertension history and with severe active period of UC, and the levels of D-dimer, FDP, ESR and CRP in patients with UC with TE were all higher than those in patients without comorbidities(52.2%, 24/46 vs.33.7%, 31/92, 45.7%, 21/46 vs.19.6%, 18/92, (822.03±654.33) μg/L vs.(230.28±225.62) μg/L, 5.77 mg/L(6.87 mg/L) vs. 2.10 mg/L(1.55 mg/L), (46.32±28.27) mm/1 h vs.(33.08±24.30) mm/1 h, 22.05 mg/L(46.42 mg/L) vs. 5.58 mg/L(11.58 mg/L)); the hospital stay and PT were longer than those in patients without comorbidities ((12.76±10.18) d vs.(8.66±4.89) d, (14.13±6.06) s vs.(11.86±1.42) s); the Hb and MPV were lower than those in patients without comorbidities ((110.91±31.38) g/L vs.(123.83±27.67) g/L, (9.60±0.94) fL vs.(10.04±1.16) fL; and the differences were statistically significant( χ2=4.37 and 10.29, t=-5.96, Z=-5.78, t=-2.85, Z=-3.87, t=-2.58, -2.50, 2.47 and 2.47; all P<0.05). The results of multivariate logistic regression analysis showed that severe activity period of UC ( OR=3.079, 95% confidence interval (95% CI) 1.100 to 8.615), hypertension history ( OR=4.454, 95% CI 1.467 to 13.519), and D-dimer level( OR=1.003, 95% CI 1.001 to 1.005) were all independent risk factors of UC with TE(all P<0.05). Conclusions:Lower extremity venous, myocardial infarction and cerebral infarction are common in UC with TE. Severe activity period of UC, history of hypertension and D-dimer level are independent risk factors of UC with TE. These above factors should be paid attention to and corresponding prevention should be taken.

5.
Chinese Journal of Neurology ; (12): 715-722, 2022.
Article in Chinese | WPRIM | ID: wpr-957959

ABSTRACT

Objective:To summarize clinical features, outcome and prognosis of anti-myelin oligodendrocyte glycoprotein IgG associated disorders (MOGAD) in children, and to explore the markers of recurrent MOGAD.Methods:The clinical features, imaging, serum and cerebrospinal fluid immune markers, treatments and outcomes were analyzed and compared between children with monophasic and recurrent MOGAD, who were hospitalized in the Department of Neurology, Children′s Hospital Affiliated to the Capital Institute of Pediatrics from January 2019 to February 2020.Results:A total of 22 children were included, of whom 8 patients (36.4%) had a recurrent course and 14 patients (63.6%) had a monophasic course. There was no statistically significant difference in sex, age of onset, clinical symptoms, modified Rankin Scale score, location of lesions and serum anti-myelin oligodendrocyte glycoprotein-IgG (MOG-IgG) titer, overall duration of total immunotherapy, positive antinuclear antibody and history of precursory infection between the two groups ( P>0.05). The serum MOG-IgG titer in the recurrent course group was more likely to remain unchanged or increased, and even increased after treatment, while there was no increase in the serum MOG-IgG titer in the monophasic course group, and the proportion of the patients with serum MOG-IgG titer decreased was higher in the monophasic course group (the monophasic course group: 6/8, the recurrent course group: 2/8), and there was statistically significant difference between the two groups ( P=0.030). The positive rate of MOG-IgG in cerebrospinal fluid in the recurrent course group was significantly higher than that in the monophasic course group at the first attack, the difference being statistically significant (the monophasic course group: 1/10, the recurrent course group: 4/6, P=0.036). The both groups were effecive to first-line immunotherapy, and the clinical symptoms and imaging were completely or partially recovered compared to the acute phase. Seven of 8 patients with recurrent MOGAD were treated with mycophenolate mofetil, and the recurrence rate decreased significantly [annual recurrence rate before treated with mycophenolate mofetil: 2.06 (1.36, 2.34) times/year, annual recurrence rate after treated with mycophenolate mofetil: 0 (0, 0) time/year, Z=-3.26, P=0.001]. The humoral immune status of children treated with mycophenolate mofetil was monitored regularly, and no obvious adverse reactions were found during the follow-up. Conclusions:At least one third of children with MOGAD were recurrent, and the serum MOG-IgG titer of children with recurrent MOGAD continued to be high, and even increased after treatment. Positive MOG-IgG in cerebrospinal fluid at the first attack was found to be a high risk factor for recurrence. The maintenance treatment of mycophenolate mofetil in patients with recurrent MOGAD can significantly reduce the annual recurrence rate and was well tolerated.

6.
Article in Chinese | WPRIM | ID: wpr-936318

ABSTRACT

OBJECTIVE@#To explore the expression patterns, prognostic implications, and biological role of leukotriene B4 receptor (LTB4R) in patients with acute myeloid leukemia (AML).@*METHODS@#We collected the data of mRNA expression levels and clinical information of patients with AML from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) database for mRNA expression analyses, survival analyses, Cox regression analyses and correlation analyses using R studio to assess the expression patterns and prognostic value of LTB4R. The correlation of LTB4R expression levels with clinical characteristics of the patients were analyzed using UALCAN. The co-expressed genes LTB4R were screened from Linkedomics and subjected to functional enrichment analysis. A protein-protein interaction network was constructed using STRING. GSEA analyses of the differentially expressed genes (DEGs) were performed based on datasets from TCGA-LAML stratified by LTB4R expression level. We also collected peripheral blood mononuclear cells (PBMCs) from AML patients and healthy donors for examination of the mRNA expression levels of LTB4R and immune checkpoint genes using qRT-PCR. We also examined serum LTB4R protein levels in the patients using ELISA.@*RESULTS@#The mRNA expression level of LTB4R was significantly increased in AML patients (4.898±1.220 vs 2.252±0.215, P < 0.001), and an elevated LTB4R expression level was correlated with a poor overall survival (OS) of the patients (P=0.004, HR=1.74). LTB4R was identified as an independent prognostic factor for OS (P=0.019, HR=1.66) and was associated with FAB subtypes, cytogenetic risk, karyotype abnormalities and NPM1 mutations. The co- expressed genes of LTB4R were enriched in the functional pathways closely associated with AML leukemogenesis, including neutrophil inflammation, lymphocyte activation, signal transduction, and metabolism. The DEGs were enriched in differentiation, activation of immune cells, and cytokine signaling. Examination of the clinical serum samples also demonstrated significantly increased expressions of LTB4R mRNA (P=0.044) and protein (P=0.008) in AML patients, and LTB4R mRNA expression was positively correlated with the expression of the immune checkpoint HAVCR2 (r= 0.466, P=0.040).@*CONCLUSION@#LTB4R can serve as a novel biomarker and independent prognostic indicator of AML and its expression patterns provide insights into the crosstalk of leukemogenesis signaling pathways involving tumor immunity and metabolism.


Subject(s)
Humans , Leukemia, Myeloid, Acute/metabolism , Leukocytes, Mononuclear/metabolism , Prognosis , RNA, Messenger/metabolism , Receptors, Leukotriene B4/genetics
7.
Journal of Clinical Hepatology ; (12): 703-707, 2022.
Article in Chinese | WPRIM | ID: wpr-922985

ABSTRACT

The liver is the main place for metabolism in human body, and when severe liver injury is induced by various factors, there will be disorders in the functions of synthesis, metabolism, and biological conversion. This article summarizes the features of the metabolism of nutrients such as glucose, amino acids, and lipids in the presence of liver failure, as well as the assessment of malnutrition and clinical interventions. For patients with liver failure, it is of great importance to identify and correct malnutrition in a timely manner, so as to improve energy metabolism and inflammation and increase survival rate.

8.
Journal of Clinical Hepatology ; (12): 577-581, 2022.
Article in Chinese | WPRIM | ID: wpr-922957

ABSTRACT

Objective To investigate the influence of preoperative serum heat shock protein 90α (HSP90α) level on the survival time of patients with hepatocellular carcinoma treated by transarterial chemoembolization (TACE). Methods A retrospective analysis was performed for the clinical data of 97 patients with hepatocellular carcinoma who received TACE alone in Department of Hepatobiliary Surgery, The Affiliated Hospital of Southwest Medical University, from January 1, 2019 to June 1, 2020. With the median of serum HSP90α level as the cut-off value, the patients were divided into high-level group with 48 patients (HSP90α > 135 ng/L) and low-level group with 49 patients (HSP90α ≤135 ng/L). The chi-square test was used for comparison of categorical data between groups. The Kaplan-Meier method was used to calculate the median survival time, and the log-rank test was used for comparison between groups. The log-rank univariate analysis and multivariate Cox regression analysis were used to explore the influencing factors for the survival time of patients after surgery. Results There were significant differences between the high-level group and the low-level group in Child-Pugh class ( χ 2 =19.356, P <0.01), tumor necrosis ( χ 2 =9.964, P =0.002), BCLC staging ( χ 2 =22.356, P <0.01), and ECOG score ( χ 2 =6.644, P <0.05). The high-level group had a significantly shorter median survival time than the low-level group ( χ 2 =15.551, P <0.01). HSP90α level (hazard ratio [ HR ]=1.690, P <0.05) and BCLC staging ( HR =2.373, P <0.05) were independent influencing factors for the survival time of patients with hepatocellular carcinoma after TACE. Conclusion Preoperative serum HSP90α level is an independent influencing factor for the survival time of patients with hepatocellular carcinoma after TACE, and it is expected to become one of the potential indicators for evaluating the prognosis of patients with hepatocellular carcinoma treated by TACE.

9.
Journal of Leukemia & Lymphoma ; (12): 111-116, 2022.
Article in Chinese | WPRIM | ID: wpr-929745

ABSTRACT

Objective:To systematically evaluate the relationship between C-KIT gene mutation and the prognosis of childhood core-binding factor-related acute myeloid leukemia (CBF-AML).Methods:The PubMed database was searched with "KIT" "Acute Myeloid Leukemia" and "Children"; the Chinese Journal Full-text Database (CNKI), Chinese Biomedical Literature Database (CBM), VIP database and Wanfang database were also searched with "KIT" "Acute Myeloid Leukemia" and "Children", and the search time was from the establishment of the database to October 1, 2020. After strict screening, the literature was included in the analysis; according to the presence or absence of genetic changes, the included cases was divided into C-KIT mutation group and wild group, and the complete remission (CR) rate, event-free survival (EFS) rate, and overall survival (OS) rate of the two groups were analyzed.Results:Six articles were collected, including 4 articles in English and 2 articles in Chinese, with a total of 667 patients. There was a statistically significant difference in the EFS rate between the C-KIT mutation group and wild group in children with CBF-AML ( HR = 2.40, 95% CI 1.47-3.89, P = 0.001); there was no significant difference in the CR rate and OS rate ( OR = 0.93, 95% CI 0.48-1.80, P = 0.830; HR = 1.92, 95% CI 0.96-3.83, P = 0.065) between the two groups. Conclusions:C-KIT gene mutation may be a risk factor for poor prognosis in children with CBF-AML.

10.
Article in Chinese | WPRIM | ID: wpr-928687

ABSTRACT

OBJECTIVE@#To analyze the characteristics of gene mutation and overexpression in newly diagnosed multiple myeloma (NDMM) patients.@*METHODS@#Bone marrow cells from 208 NDMM patients were collected and analyzed. The gene mutation of 28 genes and overexpression of 6 genes was detected by DNA sequencing. Chromosome structure abnormalities were detected by fluorescence in situ hybridization (FISH).@*RESULTS@#Gene mutations were detected in 61 (29.33%) NDMM patients. Some mutations occurred in 5 or more cases, such as NRAS, PRDM1, FAM46C, MYC, CCND1, LTB, DIS3, KRAS, and CRBN. Overexpression of six genes (CCND1, CCND3, BCL-2, CCND2, FGFR3, and MYC) were detected in 83 (39.9%) patients, and cell cycle regulation gene was the most common. Single nucleotide polymorphisms (SNP) changes were detected in 169 (81.25%) patients, the TP53 P72R gene SNP (70.17%) was the most common. Abnormality in chromosome structure was correlated to gene overexpression. Compared to the patients with normal chromosome structure, patients with 14q32 deletion showed higher proportion of CCND1 overexpression. Similarly, patients with 13q14 deletion showed higher proportion of FGFR3 overexpression, whereas patients with 1q21 amplification showed higher proportion of CCND2, BCL-2 and FGFR3 overexpression.@*CONCLUSION@#There are multiple gene mutations and overexpression in NDMM. However, there is no dominated single mutation or overexpression of genes. The most common gene mutations are those in the RAS/MAPK pathway and the genes of cyclin family CCND are overexpression.


Subject(s)
Humans , Chromosome Aberrations , In Situ Hybridization, Fluorescence , Multiple Myeloma/genetics , Mutation
11.
Article in Chinese | WPRIM | ID: wpr-928133

ABSTRACT

Neuropathic pain is one of the common complications of diabetes. Tetrahydropalmatine(THP) is a main active component of Corydalis Rhizoma with excellent anti-inflammatory and pain-alleviating properties. This study aims to investigate the therapeutic effect of THP on diabetic neuropathic pain(DNP) and the underlying mechanism. High-fat and high-sugar diet(4 weeks) and streptozotocin(STZ, 35 mg·kg~(-1), single intraperitoneal injection) were employed to induce type-2 DNP in rats. Moreover, lipopolysaccharide(LPS) was used to induce the activation of BV2 microglia in vitro to establish an inflammatory cellular model. Fasting blood glucose(FBG) was measured by a blood glucose meter. Mechanical withdrawal threshold(MWT) was assessed with von Frey filaments, and thermal withdrawal latency(TWL) with hot plate apparatus. The protein expression levels of OX42, inducible nitric oxide synthase(iNOS), CD206, p38, and p-p38 were determined by Western blot, the fluorescence expression levels of OX42 and p-p38 in the dorsal horn of the rat spinal cord by immunofluorescence, the mRNA content of p38 and OX42 in rat spinal cord tissue by qRT-PCR, and levels of nitric oxide(NO), interleukin-1β(IL-1β), interleukin-6(IL-6), tumor necrosis factor-α(TNF-α), interleukin-10(IL-10), and serum fasting insulin(FINS) by enzyme-linked immunosorbent assay(ELISA). RESULTS:: showed that the mo-del group demonstrated significant decrease in MWT and TWL, with pain symptoms. THP significantly improved the MWT and TWL of DNP rats, inhibited the activation of microglia and p38 MAPK signaling pathway in rat spinal cord, and ameliorated its inflammatory response. Meanwhile, THP promoted the change of LPS-induced BV2 microglia from the pro-inflammatory M1 phenotype to the anti-inflammatory M2 phenotype, suppressed the activation of the p38 MAPK signaling pathway, decreased the expression levels of inflammatory factors NO, IL-1β, IL-6, and TNF-α, and increased the expression level of anti-inflammatory factor IL-10. The findings suggested that THP can significantly ameliorate the pain symptoms of DNP rats possibly by inhibiting the inflammatory response caused by M1 polarization of microglia via the p38 MAPK pathway.


Subject(s)
Animals , Rats , Berberine Alkaloids , Blood Glucose/metabolism , Diabetes Mellitus , Diabetic Neuropathies/genetics , Interleukin-10 , Interleukin-6/metabolism , Lipopolysaccharides/pharmacology , Microglia , Neuralgia/metabolism , Rats, Sprague-Dawley , Signal Transduction , Spinal Cord/metabolism , Streptozocin/therapeutic use , Tumor Necrosis Factor-alpha/metabolism , p38 Mitogen-Activated Protein Kinases/metabolism
12.
Article in Chinese | WPRIM | ID: wpr-927335

ABSTRACT

OBJECTIVE@#To observe the effect of needle knife on chondrocyte autophagy and expressions of autophagy-related protein and mammalian target of rapamycin (mTOR) in rats with knee osteoarthritis (KOA), and to explore the possible mechanism of needle knife for KOA.@*METHODS@#A total of 42 SD rats were randomly divided into a normal group, a model group and a needle knife group, 14 rats in each group. Except for the normal group, the other two groups were injected with the mixture of papain and L-cysteine into the left hind knee joint to establish the KOA model. After modeling, the rats in the needle knife group were treated with needle knife at strip or nodule around the quadriceps femoris and medial and lateral collateral ligament on the affected side, once a week for 3 times (3 weeks). The changes of left knee circumference in each group were observed; the chondrocytes and ultrastructure of left knee joint were observed by HE staining and electron microscope; the mRNA and protein expressions of autophagy-related genes (Atg5, Atg12, Atg4a), Unc-51 like autophagy activated kinase 1 (ULK1), autophagy gene Beclin-1 and mTOR in left knee cartilage were detected by real-time fluorescence quantitative PCR and Western blot.@*RESULTS@#After modeling, the left knee circumferences in the model group and the needle knife group were increased compared with those before modeling and in the normal group (P<0.05); after intervention, the left knee circumference in the needle knife group was smaller than that in the model group and after modeling (P<0.05). Compared with the normal group, the number of chondrocytes was decreased, and a few cells swelled, nuclei shrank, mitochondria swelled and autophagosomes decreased in the model group; compared with the model group, the number of chondrocytes was increased , and most cell structures returned to normal, and autophagosomes was increased. Compared with the normal group, the mRNA and protein expressions of Atg5, Atg12, Atg4a, Beclin-1 and ULK1 in the knee cartilage in the model group were decreased (P<0.05); compared with the model group, the expressions of the above indexes in the needle knife group were increased (P<0.05). Compared with the normal group, the mRNA and protein expressions of mTOR in the knee cartilage in the model group were increased (P<0.05); compared with the model group, the expressions of the above indexes in the needle knife group were decreased (P<0.05).@*CONCLUSION@#The needle knife intervention could improve knee cartilage injury in rats with KOA, and its mechanism may be related to reducing the expression of mTOR and up-regulating the expressions of Atg5, Atg12, Atg4a, ULK1 and Beclin-1, so as to promote chondrocyte autophagy and delay the aging and degeneration of chondrocytes.


Subject(s)
Animals , Rats , Autophagy , Autophagy-Related Protein-1 Homolog/genetics , Beclin-1/genetics , Chondrocytes , Osteoarthritis, Knee/therapy , Rats, Sprague-Dawley , TOR Serine-Threonine Kinases/genetics
13.
Article in Chinese | WPRIM | ID: wpr-939665

ABSTRACT

OBJECTIVES@#To study the association of maternal methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) and methylenetetrahydrofolate dehydrogenase 2 (MTHFD2) gene polymorphisms with congenital heart disease (CHD) in offspring.@*METHODS@#A hospital-based case-control study was conducted. The mothers of 683 children with CHD alone who attended Hunan Children's Hospital, from November 2017 to March 2020 were enrolled as the case group, and the mothers of 740 healthy children who attended the same hospital during the same period and did not have any deformity were enrolled as the control group. A questionnaire survey was performed to collect related exposure data, and then venous blood samples (5 mL) were collected from the mothers to detect MTHFD1 and MTHFD2 gene polymorphisms. A multivariate logistic regression analysis was used to evaluate the association of MTHFD1 and MTHFD2 gene polymorphisms with CHD. The four-gamete test in Haploview 4.2 software was used to construct haplotypes and evaluate the association between haplotypes and CHD. The generalized multifactor dimensionality reduction method and logistic regression analysis were used to examine gene-gene interaction and its association with CHD.@*RESULTS@#The multivariate logistic regression analysis showed that maternal MTHFD1 gene polymorphisms at rs11849530 (GA vs AA: OR=1.49; GG vs AA: OR=2.04) andat rs1256142 (GA vs GG: OR=2.34; AA vs GG: OR=3.25) significantly increased the risk of CHD in offspring (P<0.05), while maternal MTHFD1 gene polymorphisms at rs1950902 (AA vs GG: OR=0.57) and MTHFD2 gene polymorphisms at rs1095966 (CA vs CC: OR=0.68) significantly reduced the risk of CHD in offspring (P<0.05). The haplotypes of G-G-G (OR=1.86) and G-A-G (OR=1.35) in mothers significantly increased the risk of CHD in offspring (P<0.05). The gene-gene interaction analyses showed that the first-order interaction between MTHFD1 rs1950902 and MTHFD1 rs2236222 and the second-order interaction involving MTHFD1 rs1950902, MTHFD1 rs1256142, and MTHFD2 rs1095966 might be associated with risk of CHD (P<0.05).@*CONCLUSIONS@#Maternal MTHFD1 and MTHFD2 gene polymorphisms and their haplotypes, as well as the interaction between MTHFD1 rs1950902 and MTHFD1 rs2236222 and between MTHFD1 rs1950902, MTHFD1 rs1256142, and MTHFD2 rs1095966, are associated with the risk of CHD in offspring.


Subject(s)
Child , Female , Humans , Aminohydrolases/genetics , Case-Control Studies , Genetic Predisposition to Disease , Heart Defects, Congenital/genetics , Methylenetetrahydrofolate Dehydrogenase (NADP)/genetics , Minor Histocompatibility Antigens/genetics , Mothers , Multifunctional Enzymes/genetics , Polymorphism, Single Nucleotide , Risk Factors
14.
Chinese Journal of Trauma ; (12): 555-561, 2021.
Article in Chinese | WPRIM | ID: wpr-909904

ABSTRACT

Objective:To investigate the clinical effect of induced membrane technique combined with staged internal fixation for treatment of infected femoral nonunion.Methods:A retrospective case series study was conducted to analyze the clinical data of 21 patients with infected femoral nonunion treated from January 2016 to December 2018 in 920th Hospital of Joint Logistics Support Force of PLA. There were 13 males and 8 females, with the age of 18-57 years [(38.9±6.7)years]. The duration of nonunion was 7-78 months [(27.1±11.4)months]. All patients were treated by induced membrane technique in two stages. At stage I, the original internal fixation was removed and debrided thoroughly, then the antibiotic-loaded bone cement and locking compression plate (LCP) were placed. The length of bone defect following debridement was 5-15 cm[(7.4±1.9)cm]. At stage II, the bone defect was reconstructed with bone grafts and fixed with the intramedullary nail and/or LCP. The wound condition, white blood cell count, C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) were recorded after stage I surgery and at the last follow-up to measure infection control. The complications and bone healing time were recorded. The bone healing was evaluated by the Paley criteria and the functional recovery of the affected limb was evaluated by the range of motion of the knee at the last follow-up.Results:All patients were followed up for 23-43 months [(31.9±6.7)months]. The infection recurred in 4 patients after stage I surgery, and the wound healed after repeated debridement. There was no infection recurrence after stage II surgery. The white blood cell count, CRP and ESR were (6.1±1.8)×10 9/L, (10.1±3.1)mg/L, (10.2±3.4)mm/h at the last follow-up, significantly decreased from preoperative (15.0±4.8)×10 9/L, (69.8±14.8)mg/L, (66.2±13.2)mm/h ( P<0.05). The incidence of complications was 43%. Besides infection recurrence in 4 patients after stage I surgery, the donor site at the posterior superior iliac spine in 3 patients showed delayed healing, and the limb shortening occurred in 2 patients with the discrepancy of 3 cm and 4 cm. Bony union was observed in all patients within 6-16 months [(8.8±2.7)months]. The results were excellent in 19 patients and good in 2 patients according to the Paley criteria at the last follow-up. The knee range of motion was significantly improved from preoperative 30.0°(15.0°, 110.0°) to 90.0°(61.5°, 120.0°) at the last follow-up ( P<0.05). Conclusion:For infected femoral nonunion, the induced membrane technique combined with staged internal fixation can effectively control infection, achieve bony union, and promote functional recovery.

15.
Article in Chinese | WPRIM | ID: wpr-905156

ABSTRACT

Objective:To explore the quality of life of caregivers of children with disabilities and its influencing factors. Methods:From December, 2019 to January, 2020, and August to September, 2020, a total of 496 family caregivers of children with disabilities were surveyed in Shanghai. The 12-item Short-form Health Survey (SF-12) was used to measure the quality of life of 496 caregivers, and multiple linear regression was performed to analyze the related factors. Results:The score of physical component summary (PCS) of caregivers was (51.67±8.11), and the score of mental component summary (MCS) was (42.10±12.66). The scores of PCS were lower in caregivers with children aged 6 to 18 years (B = -1.783, 95%CI -3.279 to -0.287, P = 0.020), children with emotional instability (B = 2.719, 95%CI 1.254 to 4.184, P < 0.001), female caregivers (B = -3.765, 95%CI -6.578 to -0.953, P = 0.009), and caregivers who were relatively dissatisfied with the policy (B = 1.973, 95%CI 0.367 to 3.578, P = 0.016); and were higher in caregivers with children with speech disabilities (B = 3.463, 95%CI 0.053 to 6.873, P = 0.047). The types of disabilities of children (Bhearing = 9.465, 95%CI 5.107 to 13.823, P < 0.001; Bundetermined = 5.999, 95%CI 1.558 to 10.441, P = 0.008), playmates of children (B = 2.626, 95%CI 0.352 to 4.901, P = 0.024), education level of caregivers (Bhigh middle school = -4.701, 95%CI -8.028 to -1.374, P = 0.006; Bhigh school = -3.610, 95%CI -6.604 to -0.615, P = 0.018), family size (B = 2.616, 95%CI 0.479 to 4.753, P = 0.017) and per capita monthly income (B < 5000 Yuan= -6.572, 95%CI -9.136 to -4.008, P < 0.001; B5000 to < 10000 Yuan = -4.932, 95%CI -7.544 to -2.319, P < 0.001) were associated with the scores of MCS. Conclusion:The quality of life, especially the mental health, of caregivers of children with disabilities is poor. The influencing factors cover multiple dimensions such as caregivers, children, family and social environment.

16.
Korean Journal of Radiology ; : 1142-1151, 2021.
Article in English | WPRIM | ID: wpr-894727

ABSTRACT

Objective@#To evaluate microstructural damage in high myopia (HM) patients using 3T diffusion kurtosis imaging (DKI). @*Materials and Methods@#This prospective study included 30 HM patients and 33 age- and sex-matched healthy controls (HCs) with DKI. Kurtosis parameters including kurtosis fractional anisotropy (FA), mean kurtosis (MK), axial kurtosis (AK), and radial kurtosis (RK) as well as diffusion metrics including FA, mean diffusivity, axial diffusivity (AD), and radial diffusivity derived from DKI were obtained. Group differences in these metrics were compared using tract-based spatial statistics. Partial correlation analysis was used to evaluate correlations between microstructural changes and disease duration. @*Results@#Compared to HCs, HM patients showed significantly reduced AK, RK, MK, and FA and significantly increased AD, predominately in the bilateral corticospinal tract, right inferior longitudinal fasciculus, superior longitudinal fasciculus, inferior fronto-occipital fasciculus, and left thalamus (all p < 0.05, threshold-free cluster enhancement corrected). In addition, DKI-derived kurtosis parameters (AK, RK, and MK) had negative correlations (r = -0.448 to -0.376, all p < 0.05) and diffusion parameter (AD) had positive correlations (r = 0.372 to 0.409, all p < 0.05) with disease duration. @*Conclusion@#HM patients showed microstructural alterations in the brain regions responsible for motor conduction and visionrelated functions. DKI is useful for detecting white matter abnormalities in HM patients, which might be helpful for exploring and monitoring the pathogenesis of the disease.

17.
Article in English | WPRIM | ID: wpr-888480

ABSTRACT

OBJECTIVES@#To study the association between cesarean section and sensory integration dysfunction (SID) in preschool children through a prospective cohort study.@*METHODS@#Based on the multicenter mother-infant cohort established by the Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine and the International Peace Maternity and Child Health Hospital Affiliated to Shanghai Jiao Tong University School of Medicine in 2012, the sensory integration functions (three dimensions: vestibular balance, tactile defensiveness, and proprioception) of 392 preschool children were evaluated by the Chinese Children Sensory Integration Capacity Development Rating Scale in 2017. Births by cesarean section were the exposure factors, and the children born by vaginal delivery were enrolled as controls. A multivariable logistic regression analysis was used to evaluate the association of cesarean section with each dimension of SID.@*RESULTS@#The prevalence rate of SID was 21.9% (86/392) among the preschool children, and the prevalence rates of vestibular balance disorder, tactile over-responsivity, and proprioceptive disorder were 5.9% (23/392), 5.4% (21/392), and 15.1% (59/392) respectively. After adjustment for the confounding factors including maternal age at delivery and maternal educational level and child birth situation, the cesarean section group had a significant increase in the risk of proprioceptive disorder (@*CONCLUSIONS@#Cesarean section can significantly increase the risk of proprioceptive disorder in preschool children, especially in boys.


Subject(s)
Child, Preschool , Female , Humans , Infant , Male , Pregnancy , Cesarean Section , China/epidemiology , Cohort Studies , Delivery, Obstetric , Prospective Studies
18.
Article in Chinese | WPRIM | ID: wpr-885529

ABSTRACT

Maternal heart disease has emerged as one of the major diseases threatening pregnant women's safety and long-term cardiovascular health. It is worth noting that there is a large gap in pregnancy prognosis with various cardiovascular diseases. The American College of Obstetricians and Gynecologists (ACOG) has published a practice bulletin named "Pregnancy and Heart Disease" in April 2019, which addressed the prevalence, risk factors, and heart disease effects on pregnancy and the puerperium. It outlined the common types and tiered care recommendations for cardiovascular diseases during pregnancy and puerperium.

19.
Chinese Journal of Neurology ; (12): 553-559, 2021.
Article in Chinese | WPRIM | ID: wpr-885461

ABSTRACT

Objective:To report the clinical features of KCNQ2-associated epilepsy and the novel mutations and unreported clinical phenotype of KCNQ2 gene, so as to provide help for treatment selection and prognosis evaluation.Methods:Among 979 patients with epilepsy and developmental delay who were admitted to the Department of Neurology,Children′s Hospital Affiliated to Capital Institute of Pediatrics from July 2015 to October 2019, a total of 13 patients were selected from 12 families with KCNQ2 gene mutation by whole exome sequencing technology. Suspected mutations were verified by Sanger sequencing on the probands and their parents to identify the source. The clinical phenotype and genotype were analyzed according to these results.Results:Among the 13 patients with epilepsy, the onset age of four cases were older than six months [two cases in infancy (epilepsy encephalopathy), one case in early childhood (epilepsy encephalopathy) and one case in adolescence (benign epilepsy)]. Eight cases were treated with oxcarbazepine, of whom five cases were seizure free, and two cases showed partial response (>50%). Two cases treated with topiramate were seizure free. Five novel mutations were found in this research, including c.379T>G(p.Y127D), c.1A>C(initial codon mutation), c.708G>C(p.W236C), c.1027G>T(p.A343S) and c.1649T>G(p.V550G).Conclusions:Although it was rare in clinical work, the variation of KCNQ2 gene existed in patients with childhood-onset epilepsy and adolescent-onset epilepsy. Meanwhile, five novel mutations of KCNQ2 gene were reported, which further expanded its gene spectrum. This research supported that oxcarbazepine was the efficient medicine for the KCNQ2-associated epilepsy. Genetic testing showed great help to the treatment of epilepsy.

20.
Chinese Journal of Neurology ; (12): 495-498, 2021.
Article in Chinese | WPRIM | ID: wpr-885451

ABSTRACT

ATP1A3 gene mutations are associated with a wide spectrum of neurological symptoms. This article describes a case in children, which is caused by mutation of ATP1A3 gene. A seven years old boy presented with symptoms of fever-induced generalized dystonia, dysarthria, and paroxysmal weakness. Gene sequencing results showed that the ATP1A3 gene in the boy had heterozygous mutations of c.1838C>T. Combined with the clinical manifestations, gene mutations and literatures, the patient was diagnosed as a phenotypic overlap of an atypical form of rapid onset dystonia-parkinsonism and paroxysmal weakness. The results of genetic testing can contribute to the early diagnosis of patients with atypical and overlapping phenotypes in ATP1A3 spectrum disorder.

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