Characteristics Of Chinese Patients Research Articles

Characteristics of Chinese patients with primary Sjögren's syndrome: preliminary report of a multi-centre registration study.

We established a multi-centre online registry for primary Sjögren's syndrome (pSS) in China, and compared Chinese patients with those from other countries. Data were from 87 rheumatology centres in 27 provinces. All 2986 patients had pSS according to the 2002 American-European Consensus Group or the 2016 American College of Rheumatology/European League Against Rheumatism. All centres used the same methods. Data on demographics, clinical parameters, laboratory results, disease activity and treatments were examined. The female:male ratio was 22.9:1, and the mean age at onset was 46.31 years. A total of 332 (11.1%) patients had thyroid disease, including hyperthyroidism (1.2%), hypothyroidism (6.0%) and subacute thyroiditis (3.9%). Dry eye had a prevalence of 68.59% in Chinese patients, 93.7-96% in European patients and 97.3% in American patients. Dry mouth had a prevalence of 86.5% in Chinese patients, 93.2-96% in European patients and 97.9% in American patients. Fewer Chinese than European patients had arthritis (6.9% vs. 15-19.3%). ANA positivity was 90.7% in Chinese, 81.3% in European and 77.6% in American patients. Anti-SSA antibody positivity was 84.6% in Chinese, 71% in European and 68.2% in American patients. The most commonly used drugs in Chinese patients were hydroxychloroquine (n = 1818; 67.5%), glucocorticoids (n = 1720; 63.9%) and total glucosides of paeony (n = 1120; 41.7%). This study provided information on the phenotypes of Chinese patients with pSS, and identified several differences with patients from other geographical regions.

Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

BackgroundCerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal recessive pattern of inheritance. To date, only 19 CTX patients from 16 families have been reported in the Chinese population.ResultsThree novel likely pathogenic mutations (c.368_374delCCAGTAC, c.389 T > A and c.571C > T) and 7 previously reported pathogenic mutations (c.379C > T, c.435G > T, c.1016C > T, c.1214G > A, c.1263 + 1G > A, c.1420C > T and c.1435C > T) were identified. In addition, we summarized the genotypes and phenotypes of reported Chinese CTX patients. The most predominant mutations in CYP27A1 were c.410G > A and c.379C > T, and the most common clinical manifestations were pyramidal signs, xanthomatosis, cerebellar ataxia, and cognitive impairment.ConclusionOur study broadens the genetic and clinical spectrum of CTX and provides insightful information to help better diagnose and understand the disease.

Analysis of real-word mutations of lung cancer driver genes in five regions of China

Background: The aim of this study was to analyse the epidemiological characteristics and clinical features of the three driver genes EGFR , ALK and ROS1 in Chinese patients with non-small-cell lung cancer (NSCLC). Methods: EGFR mutations, ALK fusions and ROS1 rearrangements were detected simultaneously by quantitative real-time PCR. Subgroup analyses were performed for adenocarcinoma and squamous cancer. The Chi-square test and multivariate logistic regressive analysis were used to analyse the associations between gene alterations and clinical features. Results: A total of 3,081 patients with pathologically confirmed NSCLC from five sites in China were enrolled, among whom 1,449 (47.03%) had EGFR , ALK and/or ROS1 alterations. In adenocarcinoma, the alteration rates of EGFR , ALK and ROS1 were 50.6% (1,193/2,360), 6.3% (148/2,360), and 1.6% (38/2,360), respectively. EGFR and EML4-ALK coexisted in 16 cases (0.5%), while EGFR and ROS1 coexisted in 1 case (0.03%). Sex, smoking status, and tumour stage were significantly correlated with the EGFR mutation; age and smoking status were correlated with EML4-ALK ; and age and tumour stage were correlated with ROS1 . In squamous cancer, the alteration rates of EGFR , ALK and ROS1 were 7% (34/488), 2.9% (14/488) and 0% (0/488), respectively. Sex and smoking history were associated with EGFR , and sex was the only independent predictor of EGFR . The EGFR gene mutation sites were mainly 19del (557/1,263; 44.1%) and 21 exon L858R (575/1,263; 45.5%). More uncommon EGFR mutation types were present in 10.4% (131/1,263) of patients. Patients with EGFR , ALK , and/or ROS1 alterations had different epidemiological characteristics and clinical features. Conclusions: This real-word study of alterations in driver genes in a large population in China revealed unique epidemiological characteristics and clinical features in Chinese patients with NSCLC.

X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic

X-linked lymphoproliferative syndrome (XLP) is a rare primary immunodeficiency disease that can be divided into two types: SAP deficiency (XLP1) and XIAP deficiency (XLP2), caused by mutations in the SH2D1A and XIAP genes, respectively. Few cases of XLP (particularly XIAP deficiency) have been reported in mainland China; hence, little is known about the characteristics of Chinese patients with XLP. We identified 13 and 7 patients with SAP and XIAP deficiency, respectively, in our center. Of our 20 patients, 19/20 (95%) presented with disease symptoms at a very early age: six in infancy and 13 in childhood. One XIAP- and three SAP-deficient patients died, while 3/7(42.9%) and 4/13(30.8%), respectively, developed hemophagocytic lymphohistiocytosis (HLH). Epstein-Barr virus (EBV) infection was significantly more common in SAP-deficient 10/13 (76.9%) than XIAP-deficient 2/7 (28.6%) patients, as was hypogammaglobulinemia (10/13 (76.9%) vs. 1/7 (14.3%)). None of the seven XIAP-deficient patients had colitis or lymphoma. Nine SAP-deficient patients and five XIAP-deficient patients showed markedly deficient SAP and XIAP expression, respectively, in lymphocytes. Significantly reduced levels of switched memory B cells were observed in six SAP-deficient patients with persistent hypogammaglobulinemia. One of 13 (7.7%) SAP-deficient patients and 1 of 7 (12.3%) XIAP-deficient patients have received HSCT treatment and are now alive and well; the other alive patients were waiting for HSCT. We also summarized clinical, genetic, and immunological characteristics of all 55 patients (including our 20 patients) reported in the literature in mainland China today.Conclusion: The overall characteristics of SAP deficiency in mainland China were consistent with those in previous reports, whereas manifestations of XIAP deficiency varied significantly. None of inflammatory bowel disease (IBD) has been reported among XIAP-deficient patients in our center; however, whether Chinese XIAP-deficient patients will develop colitis in the future warrants further investigation. HSCT is the only curative therapy for XLP and this therapy should be urgently considered.What is Known:• SAP and XIAP deficiencies share common clinical feature, HLH, whereas they also have their own specific manifestations.• IBD affects 25–30% of XIAP-deficient patients, which has been reported in other countries especially in European country and Japan.What is New:• This is the largest patient cohort study of XLP in China.• We firstly summarized the clinical features and outcomes of Chinese XIAP-deficient patients and found only 1 in 22 patients developed IBD and diet background may contribute to it; Asian SAP-deficient patients carrying SH2D1A R55X mutation were more prone to HLH.

Analysis of real-word mutations of lung cancer driver genes in five regions of China.

BackgroundThe aim of this study was to analyse the epidemiological characteristics and clinical features of the three driver genes EGFR, ALK and ROS1 in Chinese patients with non-small-cell lung cancer (NSCLC).MethodsEGFR mutations, ALK fusions and ROS1 rearrangements were detected simultaneously by quantitative real-time PCR. Subgroup analyses were performed for adenocarcinoma and squamous cancer. The Chi-square test and multivariate logistic regressive analysis were used to analyse the associations between gene alterations and clinical features.ResultsA total of 3,081 patients with pathologically confirmed NSCLC from five sites in China were enrolled, among whom 1,449 (47.03%) had EGFR, ALK and/or ROS1 alterations. In adenocarcinoma, the alteration rates of EGFR, ALK and ROS1 were 50.6% (1,193/2,360), 6.3% (148/2,360), and 1.6% (38/2,360), respectively. EGFR and EML4-ALK coexisted in 16 cases (0.5%), while EGFR and ROS1 coexisted in 1 case (0.03%). Sex, smoking status, and tumour stage were significantly correlated with the EGFR mutation; age and smoking status were correlated with EML4-ALK; and age and tumour stage were correlated with ROS1. In squamous cancer, the alteration rates of EGFR, ALK and ROS1 were 7% (34/488), 2.9% (14/488) and 0% (0/488), respectively. Sex and smoking history were associated with EGFR, and sex was the only independent predictor of EGFR. The EGFR gene mutation sites were mainly 19del (557/1,263; 44.1%) and 21 exon L858R (575/1,263; 45.5%). More uncommon EGFR mutation types were present in 10.4% (131/1,263) of patients. Patients with EGFR, ALK, and/or ROS1 alterations had different epidemiological characteristics and clinical features.ConclusionsThis real-word study of alterations in driver genes in a large population in China revealed unique epidemiological characteristics and clinical features in Chinese patients with NSCLC.

Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy

BackgroundLeber congenital amaurosis (LCA) and early onset severe retinal dystrophy (EOSRD) are clinically and genetically heterogeneous inherited retinal disorders that cause severe visual impairment in children. The objective of this...

Fulminant type 1 diabetes: The clinical and continuous glucose monitoring characteristics in Chinese patients.

The purpose of the current study was to investigate the clinical characteristics of fulminant type 1 diabetes mellitus (FT1DM) in Chinese patients and to further determine their glycaemic profiles through continuous glucose monitoring (CGM). Thirty subjects who were diagnosed with FT1DM according to the 2012 JDS criteria were enrolled. Clinical characteristics were compared to those reported in Japanese FT1DM. All subjects received retrospective CGM for 3days after being converted to subcutaneous insulin injection therapy. Chinese FT1DM patients presented with a shorter duration of symptoms (2.84±2.42days vs 4.4±3.1days, P<0.01), worse islet function (fasting C-peptide, 0.09±0.11ng/mL vs 0.30±0.21ng/mL; 2-hour C-peptide, 0.13±0.14ng/mL vs 0.30±0.30ng/mL, both P<0.01), lower prevalence of flu-like symptoms (46.7% vs 71.4%, P<0.05), and a significantly higher GADA positive rate (23.3% vs 5.1%, P<0.01) when compared with Japanese patients. The CGM results showed that the mean time in range (TIR) of FT1DM patients was 49.8±22.1%, while mean amplitude of glycaemic excursion (MAGE) and standard deviations of sensor glucose (SDSG) were 7.58±3.59mmol/L and 3.19±1.22mmol/L, respectively, with nearly 1/3 participants coefficient of variation (CV)>36% (all are male), suggesting a large glucose fluctuation. The female patients were further divided into pregnancy-related FT1DM (PF) and non-PF (NPF) subgroups (both n=5), and we found that PF patients had a significantly higher TIR than NPF patients (77.0±16.1% vs 41.0±22.4%, P<0.05). There were heterogeneities in the clinical characteristics of FT1DM patients, and the CGM results indicated a very low TIR and large glucose fluctuation which needs careful attention.

The spectrum and clinical significance of myositis-specific autoantibodies in Chinese patients with idiopathic inflammatory myopathies.

The aim of this study is to analyze the prevalence of myositis-specific autoantibodies (MSAs) and to elucidate their associations with clinical features in Chinese patients with polymyositis (PM) and dermatomyositis (DM). Twelve subsets of MSAs including anti-Mi-2, anti-TIF1-γ, anti-MDA5, anti-NXP2, anti-SAE1, anti-SRP, anti-Jo-1, anti-PL-7, anti-PL-12, anti-EJ, anti-OJ, and anti-HMGCR antibodies were tested. Four hundred and ninety-seven PM/DM patients were enrolled. Clinical features and laboratory data were collected. The frequency of MSAs and the correlations with clinical phenotypes were calculated by SPSS 21.0. MSAs were present in 65.4% in PM/DM patients. Anti-TIF1-γ (14.3%), anti-MDA5 (12.5%), and anti-Jo-1 (10.1%) were the three commonest MSAs. Anti-SAE1 (OR 14.877, 95% CI 1.427-155.074), anti-SRP (OR 4.339, 95% CI 1.529-12.312) and anti-TIF1-γ (OR 2.790, 95% CI 1.578-4.935) were associated with dysphagia. In contrast, anti-MDA5 (OR 0.356, 95% CI 0.148-0.856) might decrease the frequency of this manifestation. Interstitial lung disease (ILD) was observed more frequently in patients carrying anti-EJ (OR 14.202, 95% CI 1.696-118.902), anti-Jo-1 (OR 11.111, 95% CI 3.306-37.335), and anti-MDA5 (OR 3.109, 95% CI 1.578-6.128). On the contrary, anti-Mi-2 (OR 0.180, 95% CI 0.055-0.589), anti-TIF1-γ (OR 0.163, 95% CI 0.080-0.333), and anti-HMGCR (OR 0.058, 95% CI 0.007-0.451) were protective factors against developing ILD. Anti-TIF1-γ was an independent risk factor for cancer-associated myositis (OR 4.237, 95% CI 1.712-10.487). PM/DM patients had high frequencies of MSAs. Several MSAs were independent factors in determining unique clinical phenotypes.

Fabrication and characterization of a large medical balloon with ultra-high strength.

Transcatheter aortic valve implantation (TAVI) has emerged as a promising treatment strategy for patients with severe symptomatic aortic stenosis (AS). Moreover, characteristics of Chinese patients that are different from those of patients in Western countries, such as a high prevalence of bicuspid aortic valve (BAV), severe calcification, and a small peripheral artery diameter, have been observed. A novel large medical balloon with ultra-high strength was fabricated through the blending modification of PA12/TR55. The mechanical properties, particularly puncture resistance, of large balloons were thoroughly studied, and TR55, a modified nylon pellet with good mechanical properties and excellent compatibility with PA12, was applied to modify PA12. Compared with pure PA12, the fabricated PA12/TR55 balloon exhibited a higher bursting pressure, lower compliance, and higher punctures resistance while retaining good processability and excellent biocompatibility. The improved mechanical properties can be attributed to an increase in crystallinity and densification. The PA12/TR55 balloon is suitable for Chinese patients with bicuspid aortic valve and severe calcification and therefore has potential for clinical application in transcatheter aortic valve implantation. Moreover, this blending modification provides a simple but efficient method of solving other problems in cardiac angioplasty or cryoablation in which mechanical reinforcement of balloons may be necessary.

Ocular Features in Chinese Patients with Blau Syndrome

ABSTRACT Purpose: To identify pathogenic gene variants in the NOD2 gene and assess the clinical features of a cohort of Chinese patients affected with Blau syndrome. Methods: Eight patients from seven unrelated families were enrolled. Detailed ophthalmological examinations were performed. Sanger sequencing was used to analyze the NOD2 gene. Results: The onset age of ocular manifestations varied from 2 to 24 years (median: 5.5 years). Best corrected visual acuity (BCVA) ranged from light perception (LP) to 1.0. One patient presented with recurrent anterior uveitis, six patients had panuveitis and one patient was at the phthisis bulbi stage. One novel disease-associated variant (c.2006A>G, p.His669Arg) and four previously reported disease-causing variants (c.1000C>T, p.Arg334Trp; c.1001G>A, p.Arg334Gln; c.1442G>A, p.Gly481Asp; c.1759C>T, p.Arg587Cys) in the NOD2 gene (NM_022162.1) were identified. Conclusions: Blau syndrome is a rare autosomal dominant multisystem disease caused by a NOD2 gene defect. Recurrent anterior uveitis and/or panuveitis are the characteristic ocular findings.

Extra-Cerebellar Signs and Non-motor Features in Chinese Patients With Spinocerebellar Ataxia Type 3

Objectives: Our study attempted to systematically explore the prevalence of extra-cerebellar signs and non-motor symptoms, such as anxiety, depression, fatigue, excessive daytime sleepiness (EDS) and sleep disturbances in a cohort of Chinese patients with spinocerebellar ataxia type 3 (SCA3), and further investigated the correlations between non-motor symptoms and clinical characteristics in SCA3 patients.Methods: This study included 68 molecular-proven SCA3 patients. Extra-cerebellar signs were evaluated with the Inventory of Non-Ataxia Symptoms (INAS). The INAS count indicated the number of non-ataxia signs in each patient. The severity of ataxia, fatigue, EDS, sleep quality, anxiety, and depression were assessed using the Scale for the assessment and rating of ataxia (SARA), Fatigue Severity Scale (FSS), Epworth Sleepiness Scale (ESS), Pittsburgh Sleep Quality Index (PSQI), Hamilton Anxiety Rating Scale (HAMA), and the Hamilton Depression Rating Scale (HAMD) (24 items), respectively.Results: Extra-cerebellar signs were detected in 91.2% of all SCA3 patients and the mean total INAS count was 2.72 ± 1.88. Rigidity was the most frequent extra-cerebellar sign (47.1%, N = 32). Sensory symptoms (2.9%, N = 2) and chorea (5.9%, N = 4) were rare, and myoclonus (0%) was not found in this cohort. High frequencies of sleep disturbances (64.7%), fatigue (52.9%), depression (48.5%), and anxiety (42.6%) were detected in SCA3 patients. The Spearman correlation indicated that the HAMD score was associated with the CAG repeat length and HAMA score, while the PSQI score was correlated with the SARA and FSS score. In addition, multivariate linear regression analysis showed that the CAG repeat length, age of onset, sleep disturbances and depression were significant predictors of fatigue in SCA3 patients.Conclusions: Our study indicates that the vast majority of SCA3 patients display extra-cerebellar signs. Except for EDS, anxiety, depression, fatigue and impaired sleep quality are present in SCA3 patients. The CAG repeat length, age of onset, sleep disturbances and depression are predictors of fatigue in SCA3 patients.

Human leukocyte antigen and demographic characteristics in Chinese patients with active peripheral type psoriatic arthritis who had inadequate response to conventional disease-modifying antirheumatic drugs in a single dermatologic clinic.

BackgroundCorrelation between severity of psoriasis and psoriatic arthritis (PsA) is inconsistent. Also, human leukocyte antigen (HLA)-Cw6 was found to be underrepresented in severe psoriasis who failed conventional systemic therapies, but the effect of HLA polymorphism on PsA severity needs to be confirmed.ObjectivesTo describe the severity of psoriasis, demographic features and HLA polymorphism among Chinese patients with active peripheral type PsA who had inadequate response to conventional disease-modifying antirheumatic drugs.MethodsWe included all patients with PsA who had at least 3 tender and swollen peripheral joints despite at least two conventional non-biologic treatments in our clinic. Demographic results were compared with global pivotal studies of biologics for PsA. HLA-Cw and HLA-DRB1 genotyping was also analyzed.ResultsWe identified 60 patients who met our inclusion criteria. The male to female ratio was 1.31:1. The majority of patients presented with psoriasis first (81.7%). The mean interval between psoriasis and PsA was 7.2 ± 8.1 years (mean ± SD). The baseline number of tender and swollen joints was 14.9 ± 10.7 and 11.3 ±10.2, respectively. In total, 41.7% subjects had more than 3% body surface area involvement of psoriasis. Genotyping of HLA-Cw and HLA-DRB1 was performed in 47 subjects. HLA-Cw*0702 was the most frequent allele (29.8%), followed by HLA-Cw*01 (26.6%). The frequency of HLA-Cw*0602 allele was similar to normal population. The most frequent HLA-DRB1 allele was HLA-DRB1*04 (20.2%), followed by HLA-DRB1*08 (16.0%). No cases carrying HLA-DRB1*13 were detected.ConclusionsCompared with Western population, our patients had less psoriasis and PsA burden. The frequencies of HLA-Cw*06, HLA-Cw*12, and HLA-DRB1*07 were not increased. In contrast, HLA-Cw*0702 and HLA-DRB1*08 allele frequencies were increased compared with psoriasis patients and normal population in Taiwan. Future studies are still needed to characterize the demographic and genetic features of high need PsA patients.

Experience of left atrial appendage occlusion with the WATCHMAN device in Chinese patients.

Objective:Little is known about left atrial appendage occlusion (LAAO) with WATCHMAN device in patients with atrial fibrillation (AF) in China. The aim of the present study was to evaluate the acute procedural performance and complication rate of LAAO procedures and patient selection in China.Methods:A total of 658 consecutive Chinese patients who were referred to receive LAAO procedures with the WATCHMAN device between 2014 and 2017 were retrospectively included in the study. Patients were divided into four groups according to the year of procedures: Group 2014, Group 2015, Group 2016, and Group 2017. The procedural success, complication rates, and characteristics of Chinese patients, as well as the trends of patients’ selection and management, were analyzed.Results:The average age of the patients was 67.7±9.2 years, the CHA2DS2-VASc score was 3.7±1.6, and the HAS-BLED score was 2.5±1.1. Both scores of patients in different years show obvious increasing trends (r=0.126, p=0.001 and r=0.145, p<0.001, respectively). Indications for LAAO included increased bleeding risk (45.6%), recent bleeding under oral anticoagulation (OAC) (9.0%), and non-compliance with OAC (51.4%). The implantation was successful in 643 (97.7%) patients, with a procedural complication rate of 0.6%. Approximately 80.1% of the patients received OAC after LAAO.Conclusion:In China, LAAO with WATCHMAN devices in patients with AF can be performed successfully with a low complication rate. Most of the target population had increased bleeding risk or non-compliance for OAC as indications and received OAC for antithrombotic therapy after the procedure.

Clinical, radiological, and histological characteristics of Chinese type 2 diabetic patients with diabetic scleredema: an observational study

Diabetic scleredema (DS) is reported rarely in China and its features are poorly documented. We aim to describe the characteristics of Chinese patients with DS clinically, radiologically, and histologically. Of 9825 hospitalized participants with diabetes older than 18 years, 15 type 2 diabetes patients with DS as well as 15 non-DS patients with type 2 diabetes were included in this observational study. All the individuals with DS presented diffuse erythema, non-pitting, and painless indurations on the skin of the nape and upper back. Patients with DS were mainly middle-aged or elderly (male to female ratio, 4:1), with long-standing poorly controlled type 2 diabetes, overweight, or obese. Patients with DS vs non-DS had a higher prevalence of diabetic microvascular complications, neuropathy, hypertension, cerebral infarction, nicotine abuse, and alcohol abuse. LDL-C level was significantly higher in the DS group (p = 0.0143), and the skin and subcutaneous fat in T2-weighted MRI were significantly thickened in the DS group than in the non-DS group (p < 0.01). Skin biopsies showed thickened collagen bundles throughout the dermis and active fibroblast proliferation. Our reports suggest that DS is relatively rare in Chinese patients with diabetes. DS occurs both in middle-aged and elderly patients (male predominantly), overweight or obese, having long-term poorly controlled type 2 diabetes, and presenting a high incidence of microvascular complications, hypertension, neuropathy, and ischemic cerebral stroke. High LDL-C level, nicotine abuse, and alcohol abuse may be risk factors. MRI could be preferable to assess the severity of DS non-invasively.

Analysis of clinicopathology and risk of lymph nodes metastasis in 315 patients with early gastric cancer according to World Health Organization criteria

Objective To investigate the clinicopathologic features of Chinese patients with early gastric cancer (EGC) according to the World Health Organization(WHO) diagnostic criteria, and to explore the risk factors of lymph node metastasis (LNM) in EGC. Methods From 2002 to 2017, at the Second Affiliated Hospital of Nantong University, and from 2014 to 2017, at the People′s Hospital of Qidong City, the People′s Hospital of Haimen City and the People′s Hospital of Rugao City, 315 EGC patients with complete clinicopathological data were enrolled. The clinicopathologic features were analyzed including gender, age, tumor location, tumor size, macroscopic type, histological type (WHO), differentiation degree, depth of tumor invasion, Lauren subtype, infiltration pattern, ulceration, lymphoid follicles, lymphovascular invasion and perineural invasion. Chi-square test and Fisher′s exact test were performed for univariate analysis and the logistic regression was used for multivariate analysis. Results The ratio of EGC was 10.0% (315/3 140) of patients with gastric cancer and received surgery during the same period. Among the 315 EGC, the ratio of well-differentiated tubular adenocarcinoma was 11.7% (37/315), which was lower than 24.8%(2 752/11 104) in Japan and 19.9%(41/206) in South Korea, and the differences were statistically significant (χ2=28.208, P<0.01; χ2=6.510, P=0.011), however there was no statistically significant difference when compared with Western countries (11.9%, 8/67; χ2=0.002, P=0.964). Among the 276 patients who underwent radical gastrectomy, 49(17.8%) patients had with LNM. The results of univariate analysis showed that tumor size, macroscopic type, differentiation degree, depth of invasion, infiltration pattern, ulceration and lymphovascular invasion were related with LNM (χ2=9.327, 6.038, 6.381, 34.983, 19.309, 52.297 and 5.058; all P<0.05). The results of multivariate analysis revealed that lymphovascular invasion and ulceration were the independent risk factors of LNM (odd ratio (OR)=7.028 and 2.566, both P<0.05). Conclusions There is obvious difference in pathological diagnostic standard of well-differentiated tubular adenocarcinoma between China, Japan and South Korea, which may influence the therapeutic strategy of EGC. Lymphovascular invasion and ulceration are independent risk factors of LNM in EGC. Key words: Early gastric cancer; Histpatholology; Lymph node metastasis; Clinicopathology

Evaluating the relationship between adherence to Highly Active Antiretroviral Therapy (HAART) and social and clinical characteristics in Chinese patients with HIV

ABSTRACTThis study investigated the adherence rate of Highly Active Antiretroviral Therapy (HAART) in patients with HIV infection in China. The research also examined the adherence rate related to demographic and clinical characteristics with these patients. A total of 516 patients with HIV infection were enrolled from the Wuhan Provincial Center for Disease Control and Prevention. Patients reported their one-month HAART adherence rate, as well as their demographic and clinical characteristics. Using the ≥95% HAART one-month adherence rate, the patients were divided into an adherence group and a non-adherence group. The two groups were compared to identify differences. Compared to the adherence group (92.2%), the non-adherence patients (7.8%) experienced greater perceived stigma as measured by Berger Stigma Scale, and tended to have more homosexual sexual partners. Logistic regression analyses revealed that having less confidence in HAART treatment (p = 0.04, OR = 0.2, 95% CI = 0.03–0.9) and more homosexual sex partners (p = 0.049, OR = 1.5, 95% CI = 1.0–2.3) were independently associated with HAART non-adherence. More attention should be paid to patients with HIV infection who did not adherence to HAART treatment. Regular screening and psychological and social support should be considered as an intervention with non-adherence patients living with HIV.

High expression of E-cadherin and Ki-67 associated with functional/dysfunctional phenotypes of tumor-infiltrating lymphocytes among Chinese patients with operable breast cancer.

ObjectiveBreast cancer has become the most common cancer in women in China, and the clinicopathological features differ from those in Western patients. This study was performed to investigate the distribution of programmed cell death protein 1 (PD-1)+/PD-1− tumor-infiltrating lymphocytes (TILs) and its association with clinicopathological features among Chinese patients with breast cancer.MethodsIn total, 133 consecutive patients with primary breast cancer were recruited into this cross-sectional study from 2012 to 2013. TILs were measured by cell counts under high-power fields (HPFs). Immunohistochemistry was used to detect PD-1 expression on tumor-infiltrating lymphocytes in the microenvironment.ResultsThe median cell counts of the overall TILs, PD-1+ TILs, and PD-1− TILs were 80, 18, and 55/HPF, respectively. The number of PD-1− TILs was significantly lower in older than younger patients (50 vs. 60/HPF). Patients with positive E-cadherin expression had more PD-1− TILs than patients with negative E-cadherin expression (57 vs. 27/HPF). The Ki-67 index was positively correlated with the cell counts of PD-1+ TILs, and the correlation coefficient was 0.29.ConclusionsPD-1 expression on TILs had different clinicopathological features in Chinese patients with breast cancer. E-Cadherin expression was associated with PD-1− TILs; however, Ki-67 expression was associated with PD-1+ TILs.

Clinical, biochemical, and genetic analysis of the mitochondrial respiratory chain complex I deficiency.

Mitochondrial respiratory chain complex I deficiency is one of common mitochondrial disorders. However, the information is relatively little about the features of Chinese patients. In this study, the clinical, biological, and genetic analyses were performed in the children with respiratory chain complex I deficiency, in order to further understand the characteristics of the disease.Over a 3-year period, 67 patients (37 boys, 30 girls), presenting with unexplained multisystemic symptoms and signs were recruited. Clinical and laboratory data of the patients were summarized. Spectrophotometric assay was used for the analysis of mitochondrial complex I-V enzyme activity in peripheral leukocytes. The entire mitochondrial DNA (mtDNA) sequence was analysed for patients and their mothers.The children with respiratory chain complex I deficiency presented with multisystem dysfunction. Onset occurred before the third year of life in 96.9% patients without mtDNA mutation. Onset occurred before the third year of life in 76.5% of patients with mtDNA mutation (P = .03). About 51.5% of patients without mtDNA mutation had weakness, which is higher than 24% patients with mtDNA mutation (P = .02). Isolated complex I deficiency and combined complex I deficiency were found in 45 and 22 patients, respectively. The prevalence of isolated complex I deficiency was higher in the patients with mtDNA mutations (79.4%) than in the patients without mtDNA mutations (54.5%).Patients with nuclear DNA mutations are more likely to develop early onset in mitochondrial respiratory chain complex I deficiency. The patients with complex I deficiency of peripheral leukocytes may be more likely to be caused by mtDNA mutation.

A real-world observational study to explore clinical characteristics of Chinese patients with T1 non-small cell lung cancer complicated with lymph metastases.

e20523Background: Clinical characteristics of lymph metastases are hetergeneous in the patients with T1 non-small cell lung cancer (NSCLC). Preoperative assessment of lymph metastases is essential ...

Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing.

To characterize the mutations in mitochondrial DNA (mtDNA) and mitochondrion-related nuclear genes (nDNA), and clinical features in Chinese patients with mitochondrial ataxia. Targeted next-generation sequencing (NGS) technology was performed to screen the whole mtDNA sequence and nDNA genes in a cohort of 33 unrelated ataxia patients. A total of 5 pedigrees were finally genetically diagnosed as mitochondrial ataxia, with 3 pathogenic mutations (m.8344A>G, m.9176T>C, and m.9185T>C), one likely pathogenic mutation (m.3995A>G) in mtDNA, and one pathogenic mutation (c.1159_1162dupAAGT, p.Ser388Terfs) in PDHA1. The prevalence of mitochondrial ataxia in our patient cohort is 15.2%. In addition, all 4 patients with mtDNA mutations experienced symptoms of ataxia with age at onset ranging from 12 to 39years (21±12.2) and developed extrapyramidal symptoms during the disease course. One male patient with pyruvate dehydrogenase deficiency showed an acute intermittent ataxia phenotype. Our results implicate that mitochondrial ataxia might not be as rare in Chinese as previously assumed. This study firstly defines the mutations of mitochondrial ataxia in a Chinese population by targeted NGS, which broadens the clinical spectrum of mtDNA mutations and highlights the importance of screening mtDNA and nDNA mutations among undefined ataxia patients.