Patients Of Chinese Han Nationality Research Articles

Pythium insidiosum keratitis reported in China, raising the alertness to this fungus-like infection: a case series

BackgroundThe objective of this study is to report typical clinical and laboratory characteristics of three cases of keratitis caused by Pythium insidiosum in China.Case presentationThree Chinese patients of Han nationality diagnosed with Pythium keratitis from 2017 to 2019 were included. One 45-year-old female and one 55-year-old male were exposed to river water, and one 51-year-old female was burned by ash in the eyes. All of them are of Han ethnicity. Upon slit-lamp examination, subepithelial and superficial stromal opacities were observed in a reticular pattern. After conventional treatment with antifungal agents, the clinical status worsened and therapeutic penetrating keratoplasty was performed. Unfortunately, enucleation was performed to remove all infected tissue and relieve pain. Pythium insidiosum was identified in culture and confirmed by internal transcribed spacer ribosomal RNA gene sequencing analysis. Following the systemic and local antibiotic regimens, the patients were cured ultimately and no regression of infection was observed.ConclusionsIt is significant for ophthalmologists and microbiologist to be alert to this eye-threatening infection, especially in patients who are resistant to antifungal treatments and with water-related exposure.

CT angiographic study of the cerebral deep veins around the vein of Galen.

Research on the anatomy of cerebral deep veins (CDVs) around the vein of Galen (VG) is very important and has fundamental clinical significance. Large-scale anatomical studies of CDVs using computed tomography angiography (CTA) are rarely reported. A retrospective study of the CDVs around the VG was conducted in Chinese patients of Han nationality. One hundred cases were included in the final analysis. The patients were aged from 17 to 78 years (mean: 42.3 years). Also, 46% of the patients were female. The diameter of the internal cerebral vein (ICV) at its beginning and termination points ranged from 0.4 to 2.8 mm (1.49 ± 0.39 mm) and 0.4 to 3.5 mm (2.05 ± 0.47 mm), respectively. There was statistical significance regarding the diameter of the ICV at its beginning and termination points (P <0.01). The ICV length ranged from 28.5 to 47.9 mm (36.86 ± 3.74 mm). The length of the straight sinus (SS) ranged from 30.2 to 57.8 mm (43.6 ± 6.37 mm). The length of the VG ranged from 1.5 to 41.8 mm (9.30 ± 4.76 mm). The angle at the VG and SS transition area ranged from 25.4 to 110.6° (77.2 ± 18.0°). This study was a meaningful attempt to conduct anatomical research of CDVs using CTA. Preoperative familiarity with the normal venous structure and its variation around the VG would be helpful for endovascular treatment.

Relationship between genetic variation in the α2A-adrenergic receptor and the cardiovascular effects of dexmedetomidine in the Chinese Han population.

There are differences in individual cardiovascular responses to the administration of dexmedetomidine, a highly selective α2A-adrenergic receptor (ADRA2A) agonist. The aim of this study was to investigate ADRA2A gene polymorphisms in the Chinese Han population and their association with the cardiovascular response to intravenous dexmedetomidine infusion. Sixty elective surgery patients of Chinese Han nationality were administered 1 µg/kg dexmedetomidine intravenously over 10 min as a premedication. ADRA2A C-1291G and A1780G polymorphism status was determined in these patients, and their relationships to changes in blood pressure and heart rate after dexmedetomidine administration were analyzed. There were neither significant differences in systolic or diastolic blood pressure changes in individuals with different A1780G and C-1291G genotypes after dexmedetomidine administration, nor in heart rates among the different A1780G genotypes. However, there were significant differences in changes in heart rates in patients with different C-1291G genotypes. There were no significant differences in the sedative effects of dexmedetomidine among different A1780G and C-1291G genotypes. Logistic regression revealed that the C-1291G polymorphism was associated with differential decreases in heart rate after intravenous infusion of dexmedetomidine. These findings indicate that the ADRA2A C-1291G polymorphism can affect heart rate changes in patients after intravenous infusion of dexmedetomidine.

The correlation between plasma homocysteine level and lower extremity atherosclerotic disease in elderly patients of Chinese Han nationality with primary hypertension

Objective To investigate the correlation between plasma homocysteine(Hcy)level and lower extremity atherosclerotic disease(LEAD)in elderly patients of Chinese Han nationality with primary hypertension. Methods A total of 144 elderly Chinese Han outpatients with primary hypertension aged 60-90 years(92 cases in men, 52 in women)were randomly recruited in our department from January 2015 to January 2017. The diagnosis of LEAD was confirmed in this study by ankle brachial index(ABI)≤0.90(ABI normal value=1.00-1.40). The patients were divided into three different plasma Hcy level groups: low-(<10 μmol/L), middle-(10-29 μmol/L), and high-Hcy level group(≥30 μmol/L). The differences in Hcy, ABI, toe branchial index, high density lipoprotein, apolipoprotein-A1, and baPWV were compared between three different Hcy level groups. Pearson correlation was established between the influencing factors and serum level of Hcy. Moreover, binary logistic regression model was used to determine the independent risk factors for LEAD among elderly Chinese Han patients with primary hypertension. Results The values of apolipoprotein A-1, high density lipoprotein cholesterol, ankle brachial index, and toe brachial index were higher in the low Hcy group than in the middle-and high Hcy-group(P 0.05). Pearson correlation analysis showed that the level of serum Hcy was positively correlated with brachial-ankle pulse wave velocity(r=0.637, P=0.000), while it was negatively correlated with ankle brachial index, toe branchial index, high density lipoprotein cholesterol, and apolipoprotein A-1(r=-0.743, -0.257, -0.240, -0.449, all P<0.05). Binary Logistic regression model showed that gender, Hcy, and low density lipoprotein cholesterol level were independent risk factors for LEAD in elderly Chinese Han patients with primary hypertension. Conclusions Plasma Hcy level is an independent risk factor for LEAD in elderly Chinese Han patients with primary hypertension, and it is positively correlated with this disease. Key words: Cysteine; Atherosclerosis; Hypertension; Lower extremity

Correlation between neuronal antibodies and limbic encephalitis in Chinese Han subjects.

A variety of anti-neuronal cell membrane antibodies such as voltage-gated potassium channel antibody, N-methyl-D-aspartate-2B-antibody, and glutamic acid decarboxylase antibody, are correlated with limbic encephalitis (LE). In this study on patients with LE, the clinical manifestations, psychology Wechsler Adult Intelligence Scale, cerebrospinal fluid, electrophysiology, magnetic resonance imaging, and anti-immune therapy were studied and immunological determination was conducted; it was found that patients of Chinese Han nationality showed 2 types of clinical manifestations: simple and complex. Lesions could also be divided into focal and scalable lesions, and the clinical manifestations and lesions scopes were associated with various antibodies and antibody types. The prognosis may improve if early diagnosis is conducted and early anti-immune therapy is implemented in LE patients.

Genetic Screening for Mutations in the Chip Gene in Intracranial Aneurysm Patients of Chinese Han Nationality

We performed a case-control study to investigate whether SNPs of CHIP might affect the development of IA in Chinese Han nationality. We believe we are the first to have screened IA patients for mutations in the CHIP gene to determine the association with these variants. The study group comprised 224 Chinese Han nationality patients with at least one intracranial aneurysm and 238 unrelated healthy Han nationality controls. Genomic DNA was isolated from blood leukocytes. The entire coding regions of CHIP were genotyped by PCR amplification and DNA sequencing. Differences in genotype and allele frequencies between patients and controls were tested by the chi-square method. Genotype and allele frequencies of the SNP rs116166850 was demonstrated to be in Hardy-Weinberg equilibrium. No significant difference in genotype or allele frequencies between case and control groups was detected at the SNP. Our data do not support the hypothesis of a major role for the CHIP gene in IA development in the Chinese Han population.

Fc receptor like 3 in Chinese patients of Han nationality with Guillain–Barré syndrome

Fc receptor like 3 gene (FcRL3) has been associated with some autoimmune diseases. Here, its role in Guillain–Barré syndrome (GBS) was evaluated by studying nine FcRL3 gene SNPs in a Chinese cohort of GBS patients. The frequencies of FcRL3-3-169C, FcRL3-6 intron3A, and FcRL3-8 exon15G alleles were significantly increased in GBS patients compared with healthy controls. The frequency of FcRL3-1→9 CCTGGAGAA haplotype was significantly increased, and the frequencies of FcRL3-1→9 CCTACAAAA,CCCACGAAA, and CCTGCGGAA haplotypes were significantly decreased compared with healthy controls. These results suggest that FcRL3 is associated with GBS incidence.

Correlation between Toll-like receptor 4 single nucleotide polymorphism and sepsis in Chinese patients of Han nationality

目的 探讨Toll-样受体4(TLR4)基因单核苷酸多态性(SNP)与中国汉族患者脓毒症发生风险、严重程度以及预后的相关性.方法 103例术后发生脓毒症的患者作为脓毒症组,另取术后未发生脓毒症患者114例为对照组,汉族,性别不限,年龄18 ～ 80岁.采集患者外周静脉血样,EDTA抗凝,采用基质辅助激光解吸附电离飞行时间质谱法检测TLR4基因SNPs rs10759932、rs11536889和rs2737190的基因型.采用logistic回归分析校正性别、年龄、基础疾病和手术方式的影响,评价SNPs基因型与脓毒症发生、器官功能障碍、脓毒性休克和死亡的相关性,计算比值比(OR)及95％可信区间(CI).结果 与对照组比较,脓毒症组rs10759932基因型频率构成比差异有统计学意义(P＜0.05),其他2个SNPs基因型频率构成比差异无统计学意义(P＞0.05).rs10759932与脓毒症的发生相关,其突变等位基因型(TC+ CC基因型)增加脓毒症发生风险(OR为1.86,95％CI为1.17～2.97,P＜0.05).3个SNPs基因型与脓毒症相关器官功能障碍、脓毒性休克和死亡均无相关性(P＞0.05).结论 TLR4基因rs10759932突变等位基因与中国汉族患者术后发生脓毒症的风险增加相关。

Association between HLA-B51 alleles and Behcet's disease in Chinese Han nationality

Objective To investigate the possible association between HLA-B51 alleles and Behcet's disease (BD). Methods Totally, 61 Chinese patients of Han nationality, who were diagnosed with BD according to the International Study Group (ISG) criteria, were recruited. The control cohort consisted of 100 healthy individuals. Blood samples were obtained from all the subjects. PCR-sequenee specific primers (SSPs) were used to for the genotyping of HLA-B51 alleles (HLA-B5101-HLA-B5109). Results Com- pared with the control group (11 positive, 11% ), the frequency of HLA-B51 (18 positive, 29.5% ) was sig- nificantly increased in BD patients (χ2=8.79, P<0.01, RR=3.39). The HLA-B51-positive patients and controls consistently carried HLA-B5101 allele with no other alleles observed. There were 15 males and 3 females in HLA-B51 positive patients, 22 males and 21 females in HLA-B51-negative patients, and signifi- cant differences in gender distribution was observed between HLA-B51-positive and negative patients (P<0.05 ). Moreover, the average age of onset in HLA-B51-positive patients significantly differed from that in HLA-B51-negative patients (28.4±10 years vs 37.3±12 years, P<0.05). However, no significant differ- ences were noticed in the clinical types, course, skin lesions, prevalence of genital ulcer, eye damage, joint involvement, or pathergy reaction between HLA-B51-positive and -negative patients (P0.05). Conclu- sions This study supports that HLA-B5101 allele is associated not only with the development of BD, but also with the gender and onset age of patients with BD of Chinese Han nationality. Key words: Behcet's syndrome; HLA-B51 antigens; Alleles; Skin manifestations

The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified

To have an overview of the role of BRCA1 and BRCA2 genes among Chinese high-risk breast cancer patients, we analyzed 489 such high-risk breast cancer patients from four breast disease clinical centers in China, by using PCR-DHPLC or SSCP-DNA sequencing analysis. Allelotype analysis was done at five short tandem repeat (STR) markers in or adjacent to BRCA1 on the recurrent mutation carriers. For those analyzed both genes, 8.7% of early-onset breast cancer cases and 12.9% of familial breast cancer cases had a BRCA1 or BRCA2 mutation, as compared with the 26.1% of cases with both early-onset breast cancer and affected relatives. For those reporting malignancy family history other than breast/ovarian cancer, the prevalence of BRCA1/2 mutation is about 20.5%, and it was significantly higher than the patients only with family history of breast/ovarian cancer (P = 0.02). The family history of ovarian cancer (26.7% vs. 11.9%) and stomach cancer (23.8% vs. 11.8%) doubled the incidence of BRCA1/2, but the difference did not reach the statistical significance. Two recurrent mutations in BRCA1, 1100delAT and 5589del8, were identified. The recurrent mutations account for 34.8% BRCA1 mutations in our series. Similar allelotypes were detected in most STR status for those harboring the same mutations. The BRCA1 associated tumors were more likely to exhibit a high tumor grade, negative C-erbB-2/neu status and triple negative (ER, PgR and C-erbB-2/neu negative) status (P < 0.05). We recommended the BRCA1 and BRCA2 genetic analysis could be done for high-risk breast cancer patient in Chinese population, especially for those with both early-onset breast cancer and affected relatives. There may be some degree of shared ancestry for the two recurrent BRCA1 mutations in Chinese.

Association between β2-Adrenergic Receptor Genetic Polymorphisms and Nocturnal Asthmatic Patients of Chinese Han Nationality

Background: As a result of the finding that the mutation of Arg into Gly at β₂-adrenergic receptor (β₂-AR)16 loci could promote the downregulation effect triggered by the β₂-agonist, it was supposed that Gly16 might be associated with the downregulation of β₂-AR in patients with nocturnal asthma. Objective: It was the aim of this study to analyze the association between β₂-AR genetic polymorphisms and nocturnal asthmatic patients of Chinese Han nationality. Methods: A polymerase chain reaction allele-specific oligonucleotide hybridization assay was used to determine 16 and 27 loci alleles of β₂-AR genetic polymorphisms in 25 nocturnal asthmatic patients (nocturnal asthma group), 22 non-nocturnal asthmatic patients (non-nocturnal asthma group), and 72 healthy people (control group). All people investigated were of Chinese Han nationality. Results: The distribution frequency of genotype Arg/Arg, Arg/Gly, and Gly/Gly at β₂-AR 16 loci was 12, 16 and 72% in the nocturnal asthma group; and 27, 41 and 32% in the non-nocturnal asthma group. There was a significant increase in the frequency of genotype Gly/Gly and allele Gly in the nocturnal asthma group compared with the non-nocturnal asthma group (p < 0.01). However, there was no significant difference in the frequency of genotype Gly/Gly and allele Gly in the non-nocturnal asthma group, compared with the control group. There was no significance in the frequency of the genotypes and alleles of β₂-AR 27 loci among the three groups (p > 0.05). Conclusion: The Gly16 polymorphism of β₂-AR was overrepresented in nocturnal asthmatic patients, correlated with nocturnal asthma, and therefore appeared to be an important genetic factor in the expression of this asthmatic phenotype.

Association between β2-Adrenergic Receptor Genetic Polymorphisms and Total Serum IgE in Asthmatic Patients of Chinese Han Nationality

Background: β₂-Adrenergic receptor (β₂-AR) polymorphisms occurring at amino acid position 16 (Arg-Gly) and 27 (Gln-Glu) are known to be functionally relevant and also disease-modifying in subjects with asthma. It has been found in Caucasoid asthmatic patients that the Gln27 genotype β₂-AR was associated with an increase in total serum IgE levels. The association between β₂-AR genetic polymorphisms and total serum IgE in asthmatic patients of Chinese Han nationality remains to be established.Objectives: It was the aim of this study to investigate the association between β₂-AR genetic polymorphisms and total serum IgE in asthmatic patients of Chinese Han nationality. Methods: All 59 asthmatic patients investigated (27 males and 32 females, aged between 16 and 60 years) were people of Chinese Han nationality. They were tested for their total serum IgE levels with the enzyme-linked immunosorbent assay test, and β₂-AR genetic polymorphisms were tested with the polymerase chain reaction allele-specific oligonucleotide hybridization assay. Results: There was a significant difference of serum IgE levels among three β₂-AR 27 loci groups (p < 0.0001), with the highest IgE level [(1.24 ± 0.25) × 10⁶ IU/l] in the Gln/Gln group and the lowest IgE level [(0.48 ± 0.06) × 10⁶ IU/l] in the Glu/Glu group. No polymorphism of β₂-AR 16 loci was found to be associated with total serum IgE (p > 0.05). Conclusions: Our research suggested that in asthmatic patients of Chinese Han nationality, the β₂-AR genetic polymorphism at 27 loci could be associated with serum IgE levels and it might therefore play an important role in the determination of phenotypes of bronchial asthma.

NOD2 3020insC frameshift mutation is not associated with inflammatory bowel disease in Chinese patients of Han nationality.

An insertion mutation at nucleotide 3020 (3020insC) in the Caspase recruitment domain gene (CARD15), originally reported as NOD2, is strongly associated with Crohn's disease. The C-insertion mutation at nucleotide 3020 (3020inC) in the leucine-rich repeat (LRR) region results in a frameshift in the 10(th) LRR followed by a premature stop codon. This truncation mutation is responsible for the inability to activate nuclear factor (NF)-kappaB in response to bacterial lipopolysaccharide (LPS). The present study aimed to genotype NOD2/CARD15 gene 3020insC frameshift mutation in Chinese patients with inflammatory bowel disease. We genotyped an insertion polymorphism affecting the leucine-rich region of the protein product by the allele specific PCR in 74 unrelated patients with ulcerative colitis of Han nationality in Hubei Province of China, 15 patients with Crohn's disease and 172 healthy individuals. No significant differences were found in the genotype and allele frequencies of the C-insertion mutation of NOD2 gene among patients with Crohn's disease and ulcerative colitis and healthy controls. NOD2 gene 3020insC frameshift mutation is not a major contributor to the susceptibility to both Crohn's disease and ulcerative colitis in Chinese Han patients.

Genetic polymorphisms in IL-10 and IL-12b allele promoter regions in Chinese patients of Han nationality with HBV infection

Genetic polymorphisms in IL-10 and IL-12b allele promoter regions in Chinese patients of Han nationality with HBV infection