OBJECTIVE: To analyze the clinical phenotype and genetic variant of a child with Snijders Blok-Campeau syndrome (SBCS). METHODS: A child who was diagnosed with SBCS in June 2017 at Henan Children's Hospital was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and the extraction of genomic DNA, which was subjected to trio-whole exome sequencing (trio-WES) and genome copy number variation (CNV) analysis. Candidate variant was verified by Sanger sequencing of his pedigree members. RESULTS: The main clinical manifestations of the child have included language delay, intellectual impairment and motor development delay, which were accompanied with facial dysmorphisms (broad forehead, inverted triangular face, sparse eyebrows, widely spaced eyes, narrow palpebral fissures, broad nose bridge, midface hypoplasia, thin upper lip, pointed jaw, low-set ears and posteriorly rotated ears). Trio-WES and Sanger sequencing revealed that the child has harbored a heterozygous splicing variant of the CHD3 gene, namely c.4073-2A>G, for which both of his parents were of wild-type. No pathogenic variant was identified by CNV testing. CONCLUSION The c.4073-2A>G splicing variant of the CHD3 gene probably underlay the SBCS in this patient.
DNA Copy Number Variations ; Heterozygote ; Pedigree ; Phenotype ; RNA Splicing ; Mutation

OBJECTIVE: To define the nature and origin of a chromosomal aberration in a child with unexplained growth and development retardation, and to analyze its genotype-phenotype correlation. METHODS: A child who had presented at the Affiliated Children's Hospital of Zhengzhou University on July 9, 2019 was selected as the study subject. Chromosomal karyotypes of the child and her parents were determined with routine G-banding analysis. Their genomic DNA was also analyzed with single nucleotide polymorphism array (SNP array). RESULTS: Karyotyping analysis combined with SNP array suggested that the chromosomal karyotype of the child was 46,XX,dup(7)(q34q36.3), whilst no karyotypic abnormality was found in either of her parents. SNP array has identified a de novo 20.6 Mb duplication at 7q34q36.3 [arr[hg19] 7q34q36.3(138335828_158923941)×3] in the child. CONCLUSION The partial trisomy 7q carried by the child was rated as a de novo pathogenic variant. SNP array can clarify the nature and origin of chromosomal aberrations. Analysis of the correlation between genotype and phenotype can facilitate the clinical diagnosis and genetic counseling.
Female ; Humans ; Trisomy/genetics* ; Phenotype ; Genotype ; Karyotyping ; Chromosome Banding

OBJECTIVE: To explore the genetic basis for a Chinese pedigree with suspected mitochondrial functional defects through combined next-generation sequencing (NGS), copy number variation sequencing (CNV-seq), and mitochondrial DNA (mtDNA) sequencing. METHODS: Clinical data of the proband and his family members were collected. The patient and his parents were subjected to family-trio whole-exome sequencing (WES), CNV-seq and mtDNA variant detection. Candidate variant was verified by Sanger sequencing. RESULTS: Trio-WES revealed that the proband has carried compound heterozygous variants of the NDUFS1 gene, including a paternally derived c.64C>T (p.R22X) nonsense variant and a maternally derived c.845A>G (p.N282S) missense variant. Both variants may cause loss of protein function. No variant that may cause the phenotype was identified by CNV-seq and mtDNA variant analysis. CONCLUSION Children with suspected mitochondrial disorders may have no specific syndromes or laboratory findings. A comprehensive strategy including mtDNA testing may facilitate the diagnosis and early clinical interventions.
Child ; China ; DNA Copy Number Variations ; Electron Transport ; Humans ; Mutation ; NADH Dehydrogenase/genetics* ; Pedigree

Normal intestinal microflora and microecology are essential for normal physiological functions in human body. Intestinal microflora imbalance is often observed in patients with alcoholic liver disease and manifests as abnormal number and constituent ratio of intestinal microflora, dysfunction of intestinal mucosal barrier, bacterial translocation, and intestinal endotoxemia, and it plays an important role in the development and progression of alcoholic liver disease. In addition, intestinal microflora also has influence on alcohol metabolism. Probiotics or fecal microbiota transplantation can regulate intestinal microflora and may play an active role in the treatment of alcoholic liver disease. Further studies are needed to discuss the standardized use of microecologics, dose selection, dosage form, and course of treatment during the prevention and treatment of alcoholic liver disease.

Objective: To explore the molecular mechanism of miR-200b-3p regulates the proliferation, invasion, migration and apoptosis of pancreatic cancer cells by targeting vascular endothelial growth factor A (VEGFA). Methods: The expression of miR-200b-3p in pancreatic cancer tissues and cell lines was detected by quantitative real-time fluorescence PCR (qRT-PCR). Pancreatic cancer PANC-1 cells were divided into NC group, miR-200b-3p mimic group, si-VEGFA group and si-VEGFA+ miR-200b-3p inhibitor group. The proliferation, migration and invasion of PANC-1 cells were measured by CCK-8 and Transwell assay. The apoptosis of PANC-1 cells was detected by Annexin V-FITC/PI double staining flow cytometry assay. The targeted relationship of miR-200b-3p and VEGFA was estimated by dual luciferase reporter gene assay and Western blotting. Results: The expression of miR-200b-3p in pancreatic cancer tissues and cell lines was decreased. After miR-200b-3p was overexpressed in PANC-1 cells for 48 h, the cell viabilities of PANC-1 cells in NC group and miR-200b-3p mimic group were 1.250±0.028 and 0.983±0.044, the numbers of migrated cells were 402.700±21.530 and 158.000±17.620, the numbers of invaded cells were 478.300±31.050 and 170.000±32.470, and the cell apoptosis rates were (5.280±0.352)% and (7.430±0.393)%. The cell viability, migration and invasion of PANC-1 cells in miR-200b-3p mimic group were significantly decreased than those in NC group (t=5.060, P=0.007; t=8.796, P=0.001; t=6.863, P=0.002). The cell apoptosis rate in miR-200b-3p mimic group was significantly higher than that in NC group (t=4.076, P=0.015). The fluorescence intensity in VEGFA-WT group was 1.000±0.027, which was significantly higher than that in VEGFA-WT+ miR-200b-3p mimic group (0.632±0.048; t=6.637, P=0.003). The fluorescence intensities in VEGFA-MUT group and VEGFA-MUT + miR-200b-3p mimic group were 1.000±0.049 and 0.868±0.047, with no statistically significant difference (t=1.944, P=0.124). After miR-200b-3p was overexpressed in PANC-1 cells for 48 h, the expressions of VEGFA in NC group and miR-200b-3p mimic group were 1.000±0.058 and 0.762±0.020, respectively. The expression level in miR-200b-3p mimic group was lower than that in NC group (t=3.908, P=0.017). After transfection of PANC-1 cells with si-VEGFA or si-VEGFA + miR-200b-3p inhibitor for 48 h, the cell viabilities of PANC-1 cells in NC group, si-VEGFA group and si-VEGFA + miR-200b-3p inhibitor group were 1.300±0.058, 0.943±0.047 and 1.143±0.023, the numbers of migrated cells were 446.000±17.350, 206.300±19.360 and 428.300±30.330, and the numbers of invaded cells were 510.300±24.550, 175.700±24.290 and 473.700±35.530, with statistically significant differences (F=15.830, P=0.004, F=33.530, P=0.001, F=38.860, P<0.001). The cell viability, migration and invasion of PANC-1 cells in si-VEGFA group were significantly decreased than those in NC group (P=0.003, P<0.001, P<0.001). There was no significant difference between si-VEGFA + miR-200b-3p inhibitor group and NC group (P=0.107, P=0.854, P=0.671). The cell apoptosis rates in NC group, si-VEGFA group and si-VEGFA+ miR-200b-3p inhibitor group were (3.810±0.577)%, (7.373±0.482)% and (3.650±0.514)%, with a statistically significant difference (F=16.020, P=0.004). The cell apoptosis rate in si-VEGFA group was significantly higher than that in NC group (P=0.007), but there was no significantly difference between si-VEGFA + miR-200b-3p inhibitor group and NC group (P=0.975). Conclusion miR-200b-3p suppresses the proliferation, invasion and migration and promotes the apoptosis of pancreatic cells by down-regulating VEGFA.

Objective: To preliminary analysis of the characteristics of lymphocyte subsets in peripheral blood among 135 cases of coal worker’s pneumoconiosis patients in Huainan mining area. Methods: The peripheral bloods of 135 cases of coal worker’s pneumoconiosis patients and 112 cases of health examiners were collected. Flow cytometry was used to detect peripheral blood lymphocytes, T cell subsets and CD4⁺CD25⁺ regulatory T cells. Results: Compared with the control group, CD64 index of granulocytes and lymphocytes was slightly higher. The total T cells (CD3⁺) increased in peripheral blood, CD4⁺ expression was reduced and CD8⁺ expression was increased in infection group, CD4⁺/CD8⁺ ratio was inverted, the differences between the infection group and the control group were statistically significant (P<0.05) . There were significantly fewer NK (nature killer) and B cells, significantly more double negative T cells (DNT, CD3⁺CD4^-CD8^-) than the control group (P<0.05) . There was no statistically significant difference of CD4⁺CD25⁺CD127^+low、CD4⁺CD25⁺CD127^+hi and the ration of Treg/CD4⁺CD25⁺CD127^+hi protein expression in peripheral blood in two groups (P>0.05) . Conclusion The analysis of peripheral blood lymphocyte and subgroup is an ideal index to monitor the immune status of coal worker's pneumoconiosis patients. It has theoretical significance for studying the immune mechanism of pneumoconiosis and guiding clinical treatment.

To date, the efficacy of radical surgery (RS) versus conservative surgery (CS) for liver hydatid cysts (LHC) remains controversial. This meta-analysis was conducted to compare the two interventions. PubMed, Embase, and Web of Science were searched from their inceptions until June 2016. Meta-analysis was performed using STATA 12.0 software. We identified 19 eligible studies from 10 countries by retrieval. In total, 1853 LHC patients who received RS were compared with 2274 patients treated by CS. The risk of postoperative overall complication, biliary fistula, and recurrence was significantly lower, and operation time was significantly longer in the RS group. However, no statistically significant differences were found in terms of mortality risk and the duration of hospital stay between RS and CS. No significant publication biases were observed in all the above analyses. In conclusion, RS reduces the rates of postoperative complications and recurrence, whereas no trend toward such a reduction in mortality was observed in LHC patients.
Echinococcosis, Hepatic ; mortality ; surgery ; Humans ; Length of Stay ; statistics & numerical data ; Operative Time ; Postoperative Complications ; epidemiology ; Recurrence ; Treatment Outcome

Objective:To explore the mechanism of the cytotoxicity of human NK cells induced by atorvastatin to colon cancer cell lines. Methods:After colon cancer cells (HCT-116,SW-480,Caco-2) were cultured with different concentrations of atorvastatin, CCK-8 assay was used to assess the effect of atorvastatin on growth of colon cancer cells. The amplification of human NK cells was induced by SCGM medium in vitro. Automatic biochemical analyzer was applied to test the cytotoxicity of NK cells to colon cancer cells which cultured with different concentration of atorvastatin. FCM was used to detect the expression rate of MICA/B on the cells. Results:(1) The cultivation of NK cells:The proportion of NK cells attained to 93. 1% from 4. 5% after cultured for 10 days. (2) The effects of atorvastatin on the growth of the colon cancer cells:After cultured with atorvastatin,the inhibition rate of HCT-116 cells was higher than that in control when the density of atorvastatin increased from 5 μmol/L to 40 μmol/L after 48 h and from 1. 25 μmol/L to 40 μmol/L after 96 h ( P<0. 05 ) . Correlation analysis showed that the concentration of atorvastatin and the growth inhibition rate of HCT-116 cells were positively correlated(r[48 h]=0. 13,r[96 h]=0. 22,P<0. 05). (3) The cytotoxicity of NK cells to colon cancer cells effected after atorvastatin: In different atorvastatin concentrations groups,the cytotoxicity of NK cells to three colon cancer cell lines was all higher than that in control ( P<0. 05 ) . The atorvastatin concentration was from 2. 5 μmol/L to 10 μmol/L for HCT-116 cells,from 5 μmol/L to 20μmol/L for SW-480 cells,and from 2. 5μmol/L to 20μmol/L for Caco-2 cells. Among the three cell lines, the cytotoxicity of NK cells to HCT116 was the highest in the same concentration. (4)NK cells by atorvastatin cutting statins 96 h,the concentration of 20 mmol/L and 40 mmol/L inhibition rate was higher than that of control group,more than other groups on NK cell growth without significant effect. ( 5 ) The impact of atorvastatin on MICA/B expression of colon cancer cells: After cultured with different concentrations of atorvastatin,the expression of MICA/B on colon cancer cells was higher than that in control(P<0. 05). The concentration was 2. 5μmol/L and 5μmol/L for HCT-116 cells,10μmol/L and 20μmol/L for SW-480 cells,and from 2. 5μmol/L to 40 μmol/L for Caco-2 cells. Conclusion:Atorvastatin could inhibit the growth of colon cancer cells (HCT-116,SW-480 and Caco-2) in a dose-dependent manner;and it could enhance the cytotoxicity of NK cells to colon cancer cells;it also could promote the expression of MICA/B of colon cancer cells,and improve the immunogenicity of colon cancer cells.

Objective To explore the efficacy difference of biliary stent combined with 125I seed intracavity irradiation and palliative biliary drainage in the treatment of obstructive jaundice caused by pancreatic head cancer. Methods The clinic date of 95 patients with pancreatic head cancer who underwent palliative surgery from June 2010 to June 2015 were analyzed retrospectively. 46 of the cases were treated with percutaneous biliary metal stent implantation combined with 125I seed intracavity irradiation (stent group), and the other 49 cases were treated with palliative biliary enterostomy (surgery group). The levels of jaundice, liver function, tumor size, survival time and hospitalization cost were compared between the patients before and after treatment. Paired t-test was applied for statistical analysis. Results Both the two treatment coulel effectively relieve jaundice and improve liver function. The mean TBIL of surgery group and stent group was (29.4±9.6) and (21.0±8.0)μmol/L after three months treanment, (40.3±11.0) and (24.4±9.6)μmol/L after six months treatment, respectively. Tumor maximum diameter of the two groups were (37.9 ± 4.5) mm and (33.5 ± 6.0)mm after three months treatment, (45.9 ± 5.0) mm and (37.0 ± 6.5) mm after six months, respectively. Each time point between them had statistical significance (t=-4.235,-5.476,-3.654,-6.702, P<0.05). The mean survival time was (12.83 ± 0.80) months in the stent group and (9.06±0.49) months in the surgery group, the difference was statistically significant (t=-3.49, P<0.01). The mean hospitalization cost of the stent group was (38 453.0 ± 7 282.0) yuan and the surgery group was (43 057.0 ± 7 667.4) yuan, the difference was statistically significant (t= 2.759, P<0.05). Conclusion For inoperable pancreatic head cancer patients, compared with palliative biliary enteric drainage, percutaneous biliary stent placement combined with 125I seed intracavity irradiation can effectively relieve biliary obstruction, improve liver function, inhibit tumor growth and prolong survival time.

Objective To explore the attempted suicide risk factors of socio-demographic and clinical charac-teristics in major depressive disorder patients with atypical features (e.g. increased appetite, weight gain and greater time spent sleeping). Methods This was a secondary analysis of the data from the Diagnostic Assessment Service for People with Bipolar Disorders in China (DASP), which was initiated by the Chinese Society of Psychiatry (CSP) and carried out in 13 major mental health centers in China. Totally 179 patients were diagnosed as atypical major depres-sive disorder patients in all 1172 major depressive disorder patients using Diagnostic and Statistical Manual of Mental Disorder, Fourth Edition (DSM-Ⅳ) by psychiatrists. Suicide attempters and nonattempters were grouped base on the interview results of suicidality module of the Mini International Neuro-psychiatric Interview (MINI). Multiple logistic regression were used to assess association between independent variables and attempted suicide in major depressive disorder patients with atypical features. Results The rater of attempted snicide was 23.5% (42/179) of atypical major depressive disorder patients reported prior or current attempted suicide. Compared to nonattempters, attempters had higher levels of suicidal ideation, postpartum depressive episodes, and the use of antipsychotic, mood stabilizers and benzodiazepines (P<0.05). Logistic regression analysis showed that number of admissions (OR=1.73, 95% CI: 1.093~2.740) and depressive episodes with suicidal ideation (OR=3.90, 95%CI: 1.506~10.092) were significantly associat-ed with attempted suicide in atypical unipolar depression patients (P<0.05). Conclusions High number of admissions and high levels of suicidal ideation may be considered as potential risk factors to identify atypical unipolar depression patients at risk for future suicidal behavior.