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 determine the expression of transglutaminase 2 (TGM2) in peripheral blood mononuclear cells (PBMCs) from patients with atopic dermatitis (AD), and to analyze its correlation with AD-related inflammatory factors and disease severity.Methods:A total of 29 AD patients and 15 healthy controls were collected from the First Affiliated Hospital of Fujian Medical University from July 2020 to January 2021. Ten milliliters of peripheral blood samples were collected from each subject, so was the clinical information, including age, gender, course of disease, eosinophil counts, basophil counts, total IgE levels, Scoring AD index (SCORAD), etc. PBMCs were isolated by density gradient centrifugation. Fluorescence-based quantitative PCR was performed to determine the mRNA expression of TGM2 and AD-related inflammatory factors (interleukin [IL]-1β, IL-4, IL-6, IL-8, IL-10, IL-13, IL-17, thymic stromal lymphopoietin [TSLP], P2RX7 [purinergic receptor P2X, ligand-gated ion channel, 7], etc.) in PBMCs from 29 AD patients and 15 healthy controls, and flow cytometry to determine TGM2 protein expression on PBMCs. Mann-Whitney U test was used to analyze differences between groups, and Spearman correlation analysis to evaluate the correlation. Results:The relative mRNA expression of TGM2 in PBMCs did not differ between the AD group and control group ( M[ Q1, Q3]: 0.509 [0.325, 0.958] vs. 0.475 [0.328, 1.051], U = 210.50, P = 0.872). Compared with the control group, the AD group showed significantly decreased IL-4 mRNA expression (0.171[0.049, 0.449] vs. 0.824 [0.397, 1.378], P < 0.001), but significantly increased mRNA expression of IL-8 and IL-13 ( P = 0.011, 0.006, respectively). Spearman correlation analysis showed that the mRNA expression level of TGM2 in PBMCs was positively correlated with the mRNA expression levels of IL-4 and P2RX7 in the AD group ( rs = 0.42, 0.40, P = 0.024, 0.034, respectively), while there were no correlations between TGM2 mRNA expression and AD severity-related indicators (all P>0.05), such as age (21[16, 29] years), course of disease (4[1,10] years), eosinophil counts (0.33[0.18, 0.65] × 10 9/L), basophil counts (0.04[0.03, 0.06] × 10 9/L], SCORAD scores (60.5[46.98, 66.13] points), and serum total IgE levels (373 [40, 1 815] IU/ml). The relative protein expression levels of TGM2 on the surface of PBMCs did not differ between the AD group and control group (54.9 [47.6, 62.8] vs. 55.55 [51.5, 60.25], U = 112.00, P = 0.922) ], and no correlations were observed between the protein expression of TGM2 on PBMCs and AD severity-related indicators in the AD group (all P > 0.05) . Conclusion:No significant differences were observed in TGM2 mRNA expression in PBMCs or TGM2 protein expression on the surface of PBMCs between the AD patients and healthy controls, and there were no correlations between the TGM2 mRNA and protein expression and AD severity.

Objective:To explore the safety of laparoscopic antegrade modular pancreatosplenectomy (L-RAMPS) through vascular axis approach in the treatment of pancreatic body and tail adenocarcinoma.Methods:The clinical data of 12 patients with pancreatic body and tail adenocarcinoma undergoing L-RAMPS in Department of Hepatobiliary Pancreatic Surgery, Anhui No.2 Provincial People's Hospital from April 2021 to December 2022 were retrospectively analyzed, including eight males and four females, aged (65.8±11.6) years. Data regarding operative time, intraoperative blood loss, anal exhaust time, postoperative hospital stay, lymph node dissection, pathology, and postoperative complications, and survival were analyzed.Results:The procedures were successfully completed in all 12 patients. Eight patients underwent anterior L-RAMPS, four underwent posterior L-RAMPS. In one patient laparoscopic procedure was almost completed, but eventually conversed to open surgery due to vascular invasion. The operative time was (221.5±21.7) min, the intraoperative blood loss was (224.1±125.3) ml, the anal exhaust time was (3.5±1.0) d, and the postoperative hospital stay was (10.0±3.9) d. All patients underwent R 0 resection, and (15.1±3.7) lymph nodes were dissected. Positive lymph nodes were confirmed in four patients. Six patients had postoperative pancreatic fistula. The patients had been followed up for a median time of 9.5 (3.2-15.0) months, and three patients died. Conclusion:The vascular axis approach could optimize the L-RAMPS surgical approach and improve surgical safety.

Objective:To study the predictive value of combining ultrasound elestography with serological examination on incidences of microvascular invasion (MVI) in patients with hepatocellular carcinoma (HCC).Methods:The clinical data of 288 patients with HCC who underwent liver resection at MengChao Hepatobiliary Hospital of Fujian Medical University from January 2018 to September 2020 were retrospectively analyzed. 104 MVI-negative and 184 MVI-positive patients who were confirmed by postoperative histopathology were divided into the MVI-negative and MVI-positive groups respectively. Serological indicators of alanine aminotransferase, aspartate aminotransferase, platelet, albumin, and alpha-fetoprotein were compared between groups. Imaging indexes including elasticity at liver tumor surrounding 1 cm area (S1), elasticity at liver tumor surrounding 2 cm area (S2), S1S2index (S1/S2×10) and longest tumor diameter were compared between groups. Multi-variate analysis was used to screen out independent risk factors in predicting MVI of hepatocellular carcinoma, and then a nomogram model was constructed.Results:Of 288 patients with HCC who met the inclusion criteria of this study, there were 225 males and 63 females, aged (56.3±9.7) years. Multivariate logistic regression analysis revealed that patients with HCC who had multiple tumors ( OR=2.47, 95% CI: 1.41-4.33, P=0.002), long tumor diameter ( OR=1.21, 95% CI: 1.08-1.36, P=0.031), AFP>400 μg/L ( OR=2.83, 95% CI: 1.54-5.22, P=0.015), a high S1S2index ( OR=1.33, 95% CI: 1.17-1.51, P=0.025) had high incidences of MVI. The nomogram model constructed from these risk factors showed the risk of MVI in HCC patients with a mean absolute deviation of compliance between the predicted value and the true value being 0.021. The receiver operating characteristic (ROC) curve showed that the area under ROC curve of the nomogram model which predicted MVI of HCC patients was 0.777 (95% CI: 0.720-0.835). Conclusions:Multiple tumors, long tumor diameter, AFP>400 μg/L and a high S1S2 index were independent risk factors for MVI in HCC patients. The nomogram model established by these factors accurately predicted the risk of MVI and provided a reference for better choice of treatment.

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

HBV can interact with alcohol in various ways to cause liver damage. Heavy drinking can accelerate the progression of chronic hepatitis B and lead to a poorer prognosis; meanwhile, it can also affect the outcome and compliance in patients receiving antiviral therapy. The epidemiology of drinking in patients with chronic hepatitis B in China remains unclear, and further studies are needed to clarify the mechanism of interaction between alcohol and HBV. Drinking management should be strengthened in patients with chronic hepatitis B in clinical practice, in order to alleviate liver injury induced by alcohol.

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.

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 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.

Objective To explore the diagnostic value of 18F-FDG PET/CT delayed imaging after induced diuresis for primary bladder tumor.Methods Fourteen patients (12 males,2 females; age range 35-88 years) with pathologically confirmed primary bladder tumor (clinical stage T1.3N0M0) were retrospectively analyzed.All patients underwent standard 18F-FDG PET/CT followed by a delayed (2.5-3.0 h later)pelvic imaging post intravenous injection of 20 mg furosemide and oral intake of 600 ml water.A positivelesion was defined as the uptake of 18F-FDG greater than the urine radioactivity and negative as equaled to or less than the urine radioactivity.Diagnostic efficacy of 18F-FDG PET/CT was calculated with pathology as the gold standard.Mann-Whitney u test was used to analyze data.Results There were 12 malignant (11 urothelium carcinomas and 1 squamous cell carcinoma) and 2 benign tumors (papillary epitheliomas).On standard PET/CT imaging,3 of 12 malignant lesions showed increased metabolism of 18F-FDG and the other 9 were false negative; while the 2 benign tumors showed no abnormal 18F-FDG uptake.The sensitivity,specificity,and accuracy of 18F-FDG PET/CT were 3/12,2/2 and 5/14,respectively.Sizes of the 3 18F-FDG-avid malignant lesions were greater than those of other 9 18F-FDG-negative lesions (26,30,35 mm vs (15.6±6.3) mm; Z=-2.315,P＜0.05).The sensitivity,specificity,and accuracy of delayed pelvic imaging were 11/12,2/2,13/14,respectively.Conclusion 18F-FDG PET/CT delayed imaging after diuresis has a high diagnostic efficacy for primary bladder tumor.