[Value of shear-wave elastography of the liver and spleen for predicting the risk of esophageal - gastric varices and bleeding in patients with advanced schistosomiasis].

OBJECTIVE: To assess the value of shear-wave elastography (SWE) of the liver and spleen for predicting the risk of esophageal-gastric varices (EGV) and the bleeding from EGV (EGVB) in patients with advanced schistosomiasis. METHODS: The medical records of 90 patients with definitive diagnosis of advanced schistosomiasis in Wuxi People's Hospital Affiliated to Nanjing Medical University from January 2017 through January 2020 were retrospectively reviewed. The severity of EGV was graded in the 90 patients with advanced schistosomiasis using gastroscopic findings as a golden standard. Then, the subjects were assigned to the non-EGV and EGV groups, and the low- and high-risk EGVB groups according to the grading. The SWE elastic moduli of the liver and spleen were measured and compared between groups. In addition, the receiver operating characteristic (ROC) curve was plotted, and the area under the ROC curve (AUC) was estimated to evaluate the diagnostic efficiency of the SWE elastic moduli of the liver and spleen for predicting the high risk of EGV and EGVB. RESULTS: The 90 patients with advanced schistosomiasis included 61 men and 29 women, and had a mean age of (74.3 ± 8.6) years (range, 62 to 83 years). If gastroscopic findings were employed as a golden standard, there were 32 cases with grade 0 (35.5%), 17 cases with grade 1 (18.9%), 15 cases with grade 2 (16.7%) and 26 cases with grade 3 EGV (28.9%). There were 32 cases in the non-EGV group (35.6%) and 58 cases in the EGV group (64.4%), and 41 cases in the high-risk EGV group (45.6%) and 49 cases in the low-risk EGV group (54.4%), respectively. The SWE elastic moduli of the liver and spleen were both significantly greater in the EGV group than in the non-EGV group (t = 5.73 and 7.26, both P values < 0.05). The SWE elastic moduli of the liver and spleen had AUCs of 0.70 and 0.75, optimal cut-off of 16.1 kPa and 22.6 kPa, sensitivities of 80.6% and 83.9% and specificities of 71.4% and 78.6% for the prediction of EGV, respectively. In addition, the SWE elastic moduli of the liver and spleen were significantly greater in the high-risk EGVB groups than in the low-risk EGVB group (t = 7.35 and 9.61, both P values < 0.05), and the SWE elastic moduli of the liver and spleen had AUCs of 0.68 and 0.71, optimal cut-off of 22.7 kPa and 33.8 kPa, sensitivities of 70.4% and 73.6% and specificities of 89.3% and 93.1% for the prediction of high-risk EGV, respectively. CONCLUSIONS: SWE is useful to predict the risk of EGV and EGVB in patients with advanced schistosomiasis.

[Clinical study of real-time shear wave elastography for diagnosis of severity of acute cholecystitis].

Objective: To assess the clinical value of real-time shear wave elastography (SWE) in distinguishing between mild and severe cholecystitis. Methods: A total of 176 patients with cholecystitis who meet the criteria of Tokyo Guideline in Wuxi People's Hospital of Nanjing Medical University from January 2017 to March 2018 were recruited, 95 male, 81 female, age range of 23-88 years, average age (48±16)years, and divided into severe (91 cases) and mild (85 cases) groups according to disease severity. All patients underwent routine ultrasound and SWE examination to assess gallbladder morphology, hepatic flow signals and liver cirrhosis adjacent to the gallbladder. Two sonographers with different diagnostic experience independently reviewed ultrasound images alone and in combination with SWE, respectively, and compared the diagnostic consistency of two sonographers in assessing severe cholecystitis. Results: The SWE value of liver in the severe group of cholecystitis was significantly higher than that of mild group (t=10.34, P=0.01). The area under the ROC curve of SWE value for diagnosing severe cholecystitis was 0.809 with the optimal cut-off value of 7.2 kPa. The sensitivity, specificity was 78.0% and 83.5%, respectively. In distinguishing between mild and severe cholecystitis, the diagnostic sensitivity (84.6%, 95.6%) was high and the specificity (49.4%, 35.3%) was low in diagnosing gallbladder edema and sludge.The diagnostic sensitivity (14.3%, 26.4%) was low and the specificity (100%, 95.3%) was high in diagnosing pericholecystic fluid and blood flow signal of the gallbladder wall.Two sonographers reviewed ultrasound images independently for diagnosing severe cholecystitis in good agreement (κ =0.75). Combining SWE to conventional ultrasound, the diagnostic consistency of the two sonographers in diagnosing server cholecystitis was excellent (κ=0.86), and the difference was statistically significant (P=0.02), the diagnostic efficacy of which was higher than that of conventional ultrasound alone. Conclusions: Compared with conventional ultrasound alone, combining with SWE can improve the diagnostic efficacy of distinguishing between mild and severe cholecystitis, and the clinical experience of sonographers has less influence on the diagnostic accuracy.

Association of UBASH3A gene polymorphism and atopic dermatitis in the Chinese Han population.

Genome-wide association studies have revealed a large number of genetic-risk loci for many autoimmune diseases. One clear finding emerging from the published genetic studies of autoimmunity is that different autoimmune diseases share susceptibility loci. Recent evidence has demonstrated that UBASH3A gene was associated with multiple autoimmune diseases. The aim of this study was to explore the association between UBASH3A single-nucleotide polymorphisms (SNPs) and atopic dermatitis (AD) in a Chinese Han population. In total, three UBASH3A SNPs (rs11203203, rs3788013 and rs1893592) were genotyped using TaqMan genotyping assays in a Chinese Han population (1012 cases and 1362 controls). Among these SNPs, we selected the SNP rs1893592 with association values of P<5 × 10-2 for AD in the TaqMan genotyping assay data for further replication in the independent Chinese replication samples (1080 cases and 1367 controls) using a Sequenom MassARRAY system. We combined the association results in two stages using meta-analysis. We found that rs1893592 in UBASH3A showed association with AD (P=1.29 × 10-3, odds ratio=1.16). These results showed that UBASH3A gene SNP is associated with susceptibility to AD. Further fine mapping and functional studies will be required to identify true causal variant in the UBASH3A gene and its exact role in the pathogenesis of AD.

Multiple variants in 5q31.1 are associated with systemic lupus erythematosus susceptibility and subphenotypes in the Han Chinese population.

BACKGROUND: A previous study provided evidence for a genetic association between PPP2CA on 5q31.1 and systemic lupus erythematosus (SLE) across multi-ancestral cohorts, but failed to find significant evidence for an association in the Han Chinese population. OBJECTIVES: To explore the association between this locus and SLE using data from our previously published genome-wide association study (GWAS). METHODS: Single-nucleotide polymorphisms (SNPs) rs7726414 and rs244689 (near TCF7 and PPP2CA in 5q31.1) were selected as candidate independent associations from a large-scale study in a Han Chinese population consisting of 1047 cases and 1205 controls. Subsequently, 3509 cases and 8246 controls were genotyped in two further replication studies. We then investigated the SNPs' associations with SLE subphenotypes and gene expression in peripheral blood mononuclear cells. RESULTS: Highly significant associations with SLE in the Han Chinese population were detected for SNPs rs7726414 and rs244689 by combining the genotype data from our previous GWAS and two independent replication cohorts. Further conditional analyses indicated that these two SNPs contribute to disease susceptibility independently. A significant association with SLE, age at diagnosis < 20 years, was found for rs7726414 (P = 0·001). The expression levels of TCF7 and PPP2CA messenger RNA in patients with SLE were significantly decreased compared with those in healthy controls. CONCLUSIONS: This study found evidence for multiple associations with SLE in 5q31.1 at genome-wide levels of significance for the first time in a Han Chinese population, in a combined genotype dataset. These findings suggest that variants in the 5q31.1 locus not only provide novel insights into the genetic architecture of SLE, but also contribute to the complex subphenotypes of SLE.

Genetic variant rs4982958 at 14q11.2 is associated with allergic rhinitis in a Chinese Han population running title: 14q11.2 is a susceptibility locus for allergic rhinitis.

BACKGROUND: Allergic rhinitis (AR) is one of the most common diseases caused by the combined effects of intrinsic factors (susceptibility genes and immunological status) and the external environment. Analyses of ascendant family history of atopic disease suggest that AR and atopic dermatitis might share a similar genetic background. OBJECTIVE: To conduct a case-control study in a Chinese Han population to evaluate the potential influence of single nucleotide polymorphisms (SNPs) at FLG, 5q22.1, 11q13.5, 14q11.2 and 20q13.33 on AR. METHODS: Ten SNPs--rs11204971 and rs3126085 at FLG, rs10067777, rs7701890, rs13360927, and rs13361382 at 5q22.1, rs6010620 at 20q13.33, rs7936562 and rs7124842 at 11q13.5, and rs4982958 at 14q11.2 were genotyped in 363 cases and 668 controls using the Sequenom MassArray system. Data were analyzed with PLINK 1.07 software. RESULTS: The T allele of rs4982958 at 14q11.2 was observed to be significantly associated with AR (P = .002, OR = 0.73, P(Bonferront) = .02). Genotype-based association testing revealed that the recessive model might provide the best fit for rs4982958 (P(Bonferroni) = .01). In subphenotype analyses, the rs4982958 T allele was also significantly associated with persistent AR (P = .01) and more than 2 positive skin prick tests (P = .038). CONCLUSION: We identified a novel susceptibility locus 14q11.2 for AR that might bear candidate genes conferring susceptibility to AR and affecting disease phenotypes.

The effect of overweight and obesity on psoriasis patients in Chinese Han population: a hospital-based study.

BACKGROUND: Accumulating evidence indicates that psoriasis is associated with increased risk of overweight and obesity. However, few studies have investigated this relationship in Chinese Han population. OBJECTIVE: The aim of this study was to explore the relationship between overweight/obesity and psoriasis and to evaluate the overweight/obesity effect on the clinical features of psoriasis in Chinese Han population. METHODS: A hospital-based study was conducted, which involved in 4452 patients and 1166 controls of Chinese Han through epidemiological investigation. Controls used in the study were individuals without psoriasis from health examination centre, and other skin disease patients from outpatient department. RESULTS: Compared with the control group, a significantly greater prevalence of overweight and obesity was observed in psoriasis patients. The estimated ORs were 1.301 (95% CI, 1.105-1.531) and 1.680 (95% CI, 1.134-2.491) respectively. The disease severity of psoriasis measured by psoriasis area and severity index (PASI) was statistically correlated with body mass index (BMI) (r = 0.184, P < 0.01). Moreover, a high proportion of overweight patients had affected hands or/and feet, buttocks, trunk, legs, arms and arthritis (P < 0.01). CONCLUSIONS: Our study suggested that psoriatic patients have a higher prevalence of overweight and obesity compared with non-psoriatic patients in Chinese Han population. Overweight and obesity has different risk effect on severity and manifestations of psoriasis and might be useful for better evaluating psoriasis clinically.

A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia.

Hypohidrotic ectodermal dysplasia (HED) is a rare skin disease characterized by hypotrichosis, hypodontia and hypohidrosis. HED can be autosomal dominant, autosomal recessive or X-linked. However, X-linked HED (XLHED; OMIM 305100) is the most common form. Mutations within the EDA1 gene, which encodes ectodysplasin-A, are responsible for XLHED. In this study, we investigated the EDA1 gene in a Chinese Han family with XLHED, and found a novel 1-bp deletion mutation (c.952delG) in exon 9 of the EDA1 gene, which results in a frameshift and premature termination codon. This result suggests that the c.952delG mutation of the EDA1 gene is likely to be the disease-causing mutation for XLHED in this family. Our study adds new data to the worldwide knowledge of the molecular basis of XLHED.

One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex.

Epidermolysis bullosa simplex (EBS) is a group of inherited skin diseases, characterized by the formation of intraepidermal blisters. We performed genetic analysis of the keratin 5 (KRT5) gene in two Chinese pedigrees. One novel missense mutation was identified in a patient with sporadic EBS (general, non-Dowling-Meara). Sequence analysis showed a heterozygous T > A transition at nucleotide 1730 of KRT5, changing phenylalanine (Phe) to tyrosine (Tyr) at position 577 of the keratin 5 (K5). In addition, two recurrent mutations c.1649delG (p.Gly550AlafsX77) and c.508G > (p.Glu170Lys) in KRT5 were identified in Chinese patients with mottled pigmentation EBS and localized EBS, respectively. None of the mutations were found in any unaffected family members or in an additional 100 unrelated control samples. These results suggest that these mutations are pathogenic and might be one of the potential causes of EBS in these Chinese patients.

Association of HLA haplotype with alopecia areata in Chinese Hans.

BACKGROUND: Some studies have shown discrepancies in human leucocyte antigen (HLA) associated with alopecia areata (AA) between different ethnic populations. OBJECTIVE: To investigate whether HLA-I, -DQA1 and -DQB1 alleles and the HLA haplotype are associated with AA, and the correlation between the HLA haplotype profile, age of onset and severity of AA in Chinese Hans. METHODS: The polymerase chain reaction-sequence specific primer (PCR-SSP) method was used to analyse the frequencies of HLA class I, -DQA1 and -DQB1 alleles in 192 patients with AA and 252 controls in Chinese Hans. The linkage disequilibrium was calculated using the 2 x 2 table. RESULTS: The 24 two-locus haplotypes [including A*02-B*18, A*02-B*27, A*02-B*52, A*02-Cw*0704, A*02-DQA1*0104, A*02-DQB1*0604, A*02-DQB1*0606, B*18-Cw*0704, B*18-DQA1*0104, B*18-DQA1*0302, B*18-DQB1*0606, B*27-Cw*0704, B*27-DQA1*0104, B*27-DQA1*0302, B*52-Cw*0704, B*52-DQA1*0104, B*52-DQA1*0302, B52-DQB1*0606, Cw*0704-DQA1*0104, Cw*0704-DQA1*0302, Cw*0704-DQB1*0606, DQA1*0104-DQB1*0604, DQA1*0104-DQB1*0606, DQA1*0302-DQB1*0606 (P<0.05)] were associated with AA, while eight extended haplotypes (A*02-B*18-DQA1*0104, A*02-B*27-DQA1*0104, A*02-B*52-DQA1*0104, A*02-B*52-DQA1*0302, A*02-B*52-DQB1*0606, B*52-Cw*0704-DQA1*0104, B*52-Cw*0704-DQA1*0302, A*02-B*52-DQA1*0302-DQB1*0606) were found to be related to AA in Chinese Hans. Through stratified analysis, we found that the extended haplotype B*52-Cw*0704-DQA1*0302 was related to early onset of AA, and no haplotype was only associated with severe AA. CONCLUSION: This is the first detailed report to elucidate HLA haplotypes associated with AA and that demonstrates the significant HLA haplotypes in Chinese Hans AA. The haplotype B*52-Cw*0704-DQA1*0302 was identified to be related to early onset of AA. Our results provide some information for future research on predisposing genes in HLA regions in Chinese Hans.

[Effects of running armored car on dynamic posture equilibrium].

Objective. To study the effects of training in running armored car on dynamic posture equilibrium. Method. Dynamic posture was tested pre- and post running armored car in 56 healthy men. Result. Compared to pre-training, certain equilibrium scores of sensory organization test condition 1 (P<0.05), 2 (P< 0.001), and 3 (P< 0.001) decreased significantly, while those of condition 4 (P<0.001) and 6 (P< 0.001) increased significantly. The static proprioception score (SOT2/SOT1 x 100) (P< 0.01) decreased significantly, while visual sensory score (SOT4/SOT1 x 100, P <0.01) and dynamic proprioception (SOT (4+5+6)/SOT(1+2+3) x 100, P<0.001) increased significantly post-training. The motor strategy scores of sensory organization test condition 2 (P<0.01) and 3 (P<0.001) significantly decreased. Conclusion. The results demonstrated that training in a running armored car influenced postural equilibrium and sensory organization.