PubMed Health⌕ Search

Biomedical subjects

Sen Yang

Publications and source records attributed to Sen Yang.

54 records · Page 3Linked to original sources

A novel locus for disseminated superficial porokeratosis maps to chromosome 18p11.3.

Disseminated superficial porokeratosis (DSP) is a rare autosomal dominant epidermal keratinization disorder of lesions characterized by cornoid lamella with parakeratosis, hyperkeratosis, and loss of granular layers. The genetic basis for this disease is unknown. Through a proband with a diagnosis of DSP, we identified a large four-generation Chinese family with multiple DSP-affected members from Anhui province in China. After excluding the linkage of the disease phenotype to two known loci for disseminated superficial actinic porokeratosis in this family, we performed a genome-wide linkage analysis using 387 microsatellite markers and identified a novel disease locus for DSP at 18p11.3. Our subsequent fine mapping and haplotype analyses further narrowed down the disease locus into an 18.7 cM region between the telomere and D18S391 with a maximum two-point LOD (logarithm of the odds) score of 4.82 (theta =0.00) at D18S1138. Therefore, this study provides strong linkage evidence for a DSP locus at 18p11.3.

Adolescent↗

The study of the participation of basement membrane zone antibodies in the formation of the lupus band in systemic lupus erythematosus.

BACKGROUND: The lupus band test (LBT) is an important auxiliary method in the diagnosis of systemic lupus erythematosus (SLE), but the mechanism of its formation is still unknown. There are many kinds of autoantibodies, such as basement membrane zone autoantibodies (BMZ-Abs), in patients with SLE. AIM: To detect whether skin BMZ-Abs participated in the formation of the lupus band in SLE. Methods Immunoglobulin G (IgG)-type BMZ-Abs in 15 SLE patients were detected by means of immunofluorescence (IF), immunoblotting (IB), and immunoelectron microscopy (IEM). RESULTS: Direct immunofluorescence (DIF) on salt-split skin showed epidermal fluorescence in 12 of the 15 SLE patients. Two of the 12 patients also showed dermal fluorescence. Indirect immunofluorescence (IIF) on salt-split skin revealed that, in 12 of the 15 (80%) sera, antibodies were bound to the epidermal roof of the salt-split skin. IB showed that, in 14 SLE sera, autoantibodies reacted to 230, 200, 180, 130, and 97 kDa epidermal extracts and 75 kDa dermal extracts. Direct (DIEM) and indirect (IIEM) immunoelectron microscopy showed that gold particles were directed to every region of the BMZ, including hemidesmosomes, lamina lucida, lamina densa, and sublamina densa. CONCLUSIONS: BMZ-Abs in SLE sera may participate in the formation of the lupus band.

Autoantibodies↗

HLA-DQA1 and DQB1 alleles are associated with genetic susceptibility to psoriasis vulgaris in Chinese Han.

BACKGROUND: Psoriasis vulgaris is a chronic skin disorder characterized by infiltration of inflammatory elements, keratinocyte hyperproliferation and altered differentiation. Although the pathogenesis of psoriasis is not fully understood, there is solid evidence of a susceptibility locus in the human leukocyte antigen (HLA) region. OBJECTIVES: To investigate whether HLA-DQA1 and DQB1 alleles are associated with genetic susceptibility to psoriasis vulgaris in Chinese Han. PATIENTS AND METHODS: The polymerase chain reaction-sequence-specific primer (PCR-SSP) method was used to analyse the distribution of HLA-DQA1 and DQB1 alleles in 189 patients with psoriasis and 273 healthy controls. RESULTS: The HLA-DQA1*0104 (OR = 2.33, P = 0.0001154, Pc = 2.0 x 10-3), DQA1*0201 (OR = 3.36, P < 1.0 x 10-7, Pc < 1.0 x 10-6), DQB1*0201 (OR = 1.64, P = 0.0192, Pc > 0.05) and DQB1*0303 (OR = 1.55, P = 0.0377, Pc > 0.05) alleles were more prevalent in patients with psoriasis vulgaris than in controls, and HLA-DQA1*0501 (OR = 0.30, P = 0.0000039, Pc < 4.0 x 10-5) alleles were less prevalent. The HLA-DQA1*0104 (OR = 2.42, P = 0.0001159, Pc < 2.0 x 10-3), DQA1*0201 (OR = 3.74, P < 1.0 x 10-7, Pc < 1.0 x 10-6) and DQA1*0501 (OR = 0.30, P = 0.0000374, Pc < 4.0 x 10-4) alleles were only associated with type I psoriasis. HLA-DQA1*0104 and DQA1*0201 were more prevalent in patients with or without a family history of psoriasis. However, the DQA1*0501 allele was only more prevalent in patients without a family history of psoriasis. CONCLUSION: HLA-DQA1*0104 and DQA1*0201 alleles may be psoriasis susceptibility genes or may be in close linkage with the susceptibility genes. The HLA-DQA1*0501 allele seems to have a protective effect against the development of psoriasis vulgaris in Chinese Han. There may be a difference in genetic background between psoriasis patients with and without a family history of psoriasis.

Adolescent↗

An epidemiological study of patients with chronic prostatitis.

OBJECTIVE: To assess possible causes, clinical symptoms and improvements in treatment for chronic prostatitis in China. PATIENTS AND METHODS: The study comprised 3000 patients with chronic prostatitis (aged 20-59 years), selected from urological clinics at province, city and county levels in Anhui (a province in mid-eastern China). Anonymous questionnaires were distributed which included 29 items to ascertain patient age, height, weight, educational background, personality, career, disease course, treatment status, prostatic fluid test and score of the National Institute of Health Chronic Prostatitis Symptom Index (NIH-CPSI). RESULTS: In all, 2498 valid questionnaires were collected (response rate 83.3%); 78.2% of the patients were aged <40 years and there were fewer patients in groups of increasing age. Discomfort and pain in the pelvis was reported by 52.3%, pain on urination by 23.0%, sexual discomfort by 21.8%, urinary frequency by 65.8%, and voiding discomfort by 74.4%; 34.9% of men were satisfied with their previous treatment. CONCLUSION: In China there are fewer patients with chronic prostatitis as age increases. The main symptoms were voiding dysfunction, e.g. frequent urination. The prevalence of pain, e.g. on urination, was significantly less than documented in other parts of the world. Most patients had used antibiotics to treat their prostatitis; generally the effect of treating prostatitis was unsatisfactory.

Adult↗

Detection of gyrA and parC mutations associated with ciprofloxacin resistance in Neisseria gonorrhoeae by use of oligonucleotide biochip technology.

An oligonucleotide biochip that specifically detects point mutations in the gyrA and parC genes of Neisseria gonorrhoeae was designed and subsequently evaluated with 87 untreated clinical specimens. The susceptibilities of the N. gonorrhoeae strains were tested to determine the prevalence of ciprofloxacin-resistant strains in Anhui Province, People's Republic of China. Conventional DNA sequencing was also performed to identify mutations in gyrA and parC and to confirm the biochip data. The study demonstrates that all of the point mutations in the gyrA and parC genes of N. gonorrhoeae were easily discriminated by use of the oligonucleotide biochip. Fifteen different alteration patterns involved in the formation of ciprofloxacin resistance were identified by the biochip assay. Double mutations in both Ser91 and Asp95 of the GyrA protein were seen in all nonsensitive isolates. Double mutations in Ser91 and Asp95 of GyrA plus mutation of Glu91 or Ser87 of the ParC protein lead to significant high-level resistance to ciprofloxacin in N. gonorrhoeae isolates. The results obtained by use of the oligonucleotide biochip were identical to those obtained by use of DNA sequencing. In conclusion, the oligonucleotide biochip technology has potential utility for the rapid and reliable identification of point mutations in the drug resistance genes of N. gonorrhoeae.

Anti-Infective Agents↗

Effect of additive on the formation of polyacrylonitrile membrane.

The effect of additives CaCl2 and CaCl2/H2O on the properties of polyacrylonitrile (PAN) ultrafiltration (UF) membranes prepared by phase inversion process was studied. The dissolving capacity of the casting solution for CaCl2 was enhanced by the addition of H2O. The membranes are characterized in terms of the pure water flux and molecular weight cut-off (MWCO). The addition of CaCl2 or CaCl2/H2O to the casting solution increases the resulting membrane permeability.

Acrylic Resins↗

A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.

BACKGROUND: hidrotic ectodermal dysplasia (HED) or Clouston syndrome is a rare autosomal dominant disorder affecting the skin and its derivatives. It is characterized by the triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. To date, all mutations have been involving in three codons: G11R, A88V and V37E in the connexin 30 (Cx30) gene have been shown to cause this disorder. OBJECTIVE: in order to analyze the mutations of the Cx30 gene in Chinese Han patients with HED. METHODS: we collected a large Chinese HED family consisting of a total of 81 individuals including 28 HED patients (14 males and 14 females). The whole coding region of Cx30 was amplified by polymerase chain reaction and products analyzed by direct sequencing, then further confirmed at the mRNA level by RT-PCR. RESULTS: we detected a transition, 31(G-->A), leading to a missense mutation (G11R) in genomic DNAs of 18 patients, and the point mutation was not found in 16 normal individuals in this HED family and in 188 unrelated, population-match control individuals. The transcription of mutated allele was confirmed by RT-PCR of Cx30 mRNA. CONCLUSION: our data suggests that a G11R missense mutation in the Cx30 gene can cause HED in Chinese Han population and emphasizes the importance of screening for this as well as other Cx30 gene mutations in the HED.

Adult↗

Association of HLA class I alleles with psoriasis vulgaris in southeastern Chinese Hans.

BACKGROUND: Predisposing genetic factors in psoriasis include associations with human leukocyte antigen (HLA). Accumulative evidence has shown that certain HLA at class I locus, especially HLA-Cw6, are associated closely with psoriasis. OBJECTIVE: To evaluate the association of HLA class I alleles with susceptibility to psoriasis in the southeastern Chinese Han population. METHODS: We performed genotype for HLA-A, -B and -C loci in 166 patients with psoriasis vulgaris by means of polymerase chain reaction with sequence-specific primers technique. The distribution of HLA allelic frequencies was further analyzed according to age of onset, i.e. under 35-y and beyond 35-y groups. These data were compared with the healthy controls of 204 unrelated Hans. RESULTS: The frequencies of HLA-A*26 (24.7% vs. 13.1%, OR=2.36, Pc<0.01), -B*13 (27.2% vs. 14.8%, OR=2.34, Pc<0.01), -B*27 (12.2% vs. 4.0%, OR=3.49, Pc<0.01) and -Cw*0602 (17.9% vs. 5.3%, OR=4.20, Pc<0.001) were significantly increased in psoriasis patients, whereas HLA-Cw*0304 frequency (4.9% vs. 13.4%, OR=0.32, Pc<0.01) was highly decreased, when compared to the controls. HLA-A*26-B*27-Cw*0602 was identified as a high-risk haplotype of HLA class I in developing psoriasis in the test. HLA-Cw*0602 was found to be strongly associated with the early-onset psoriasis (age of onset <35 y). CONCLUSION: This study demonstrated the positive associations of HLA class I markers with psoriasis vulgaris, of which HLA-Cw*0602 was the strongest susceptibility determinant for development of early-onset psoriasis, in the southeastern Chinese Han population.

Adult↗

Identification of a locus for dyschromatosis symmetrica hereditaria at chromosome 1q11-1q21.

Dyschromatosis symmetrica hereditaria is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the face and the dorsal aspects of the extremities. The genetic basis for this disease is unknown. We performed a genome-wide search in two large Chinese families to map the chromosome location of the responsible gene. We identified a locus at chromosome 1q11-1q21 with a cumulative maximum two-point LOD score of 8.85 at marker D1S2343 (at recombination fraction=0.00). Haplotype analyses indicated that the disease gene is located within the 11.6 cM region between markers D1S2696 and D1S2635. This is the first locus identified for dyschromatosis symmetrica hereditaria. This study provides a map location for isolation of a disease gene causing dyschromatosis symmetrica hereditaria.

China↗

Frequent use of tobacco and alcohol in Chinese psoriasis patients.

BACKGROUND: This study aimed to explore smoking and drinking as risk factors in psoriasis. METHODS: Data collected from 789 psoriasis patients and 789 healthy controls were analyzed to determine whether there was an association between smoking/drinking and psoriasis. RESULTS: The proportion of male psoriasis patients using tobacco and alcohol was much higher than that of the control group (P < 10(-6)), whereas no statistical differences were found between female smokers and the control group. In general, heavy smokers were more likely to have severe psoriasis. CONCLUSION: Tobacco use in patients is correlated with psoriasis.

Adolescent↗

The genetic epidemiology of psoriasis vulgaris in Chinese Han.

BACKGROUND: The aim of this study was to explore the effects of genetic factors on the onset of psoriasis vulgaris and to develop a possible genetic model of psoriasis in Chinese Han. METHODS: Data for 1043 patients with psoriasis vulgaris were obtained by questionnaire. Complex segregation analysis and heritability were performed using Penrose's method, Falconer's method, and the EPI INFO 6.0 and SAGE-REGTL programs. RESULTS: (1) For male and female patients, the peak ages of initial onset were 30-39 and 10-19 years, respectively, with the mean age of initial onset being 27.69 +/- 12.32 years in males and 23.26 +/- 12.56 years in females. (2) Of 1043 patients with psoriasis, 326 (31.26%) were reported to have a family history of psoriasis. The onset for males with a family history of psoriasis was earlier than that for those without a family history (P < 0.01). The morbidities of first-degree relatives were 7.67% in patients with type I psoriasis and 5.27% in patients with type II (P < 0.01), and those of second-degree relatives were 1.04% in type I and 0.24% in type II (P < 0.01). (3) The onset of psoriasis was earlier in females than in males in type I psoriasis (P < 0.01), but this was not the case in type II (P > 0.05). (4) The prevalence of psoriasis in first- and second-degree relatives of the proband with psoriasis was 7.24 and 0.95%, respectively; higher than that in the general population (0.146%). (5) The heritability of psoriasis in first- and second-degree relatives was 67.04 and 46.59%, respectively. The Mendelian, no-major-gene and environment model was rejected by complex segregation analysis. CONCLUSION: Psoriasis vulgaris follows a pattern of polygenetic or multifactorial inheritance rather than single-gene inheritance.

Adolescent↗

Evidence for a major psoriasis susceptibility locus at 6p21(PSORS1) and a novel candidate region at 4q31 by genome-wide scan in Chinese hans.

Psoriasis is a heterogeneous disease with seven major psoriasis susceptibility loci reported so far on chromosomes 1p, 1q, 3q, 4q, 6p, 17q, and 19p, respectively. To investigate the psoriasis susceptibility loci in Chinese Hans, a genome-wide scan was performed with two-point and multipoint parametric and nonparametric linkage analyses in 61 multiplex families. These families were Chinese Hans residing in east and south-east China, comprising 189 affected and 166 unaffected individuals. We detected evidence for linkage at 6p21 (PSORS1) with nonparametric linkage scores > 3 in the range of 39.9-62.3 cM and a maximum multipoint nonparametric linkage score of 4.58 (p=0.000032). Parametric analysis revealed a maximum two-point heterogeneity lod score of 4.30 with 58% as the proportion of linked families (alpha) and a maximum multipoint heterogeneity lod score of 4.25 (alpha=53%) under the assumption of a dominant model. We could not confirm a previous reported locus (PSORS3) on distal chromosome 4q; however, a region of highly suggestive linkage was identified proximal to this proposed locus. Multipoint nonparametric analysis demonstrated nonparametric linkage scores > 3 throughout a region between 152.5 cM and 165.1 cM (from pter) with a maximum peak of 3.69 (p=0.00033) at 157.9 cM, which locates D4S413. A maximum multipoint heterogeneity lod score of 2.31 (alpha=46%) was reached at 163.1 cM. With two-point parametric linkage analysis, we observed the highest lod score of 2.43 and heterogeneity lod score of 3.94 (alpha=77%) at marker D4S1597. Our results showed that chromosomes 6p and 4q may contain genes involved in the susceptibility to psoriasis vulgaris in a Chinese Han population. Other regions with weaker evidence for linkage could also hide minor susceptibility genes.

Adult↗

[Analyses of genetic model of psoriasis vulgaris].

OBJECTIVE: To explore the possible genetic model of psoriasis vulgaris. METHODS: The complex segregation analysis and heritability calculation were performed with the aid of Penrose method, Falconer regression method and SAGE-REGTL program. RESULTS: It was found that in 1043 patients with psoriasis vulgaris, 305 patients (29.24%) have the family history of psoriasis, and 738 patients have not the family history. A ratio of s/q approached 1/(square root of q) with Penrose method, and the heritability values of psoriasis in the first-degree and second-degree relatives were 67.04%, 46.6% respectively. By complex segregation analysis, Mendelian, non-major-gene model and environment model were rejected for psoriasis. CONCLUSION: The results suggest that psoriasis follows a pattern of polygenetic or multifactorial inheritance rather than single-gene inheritance.

Adolescent↗

[Study of the association between HLA-DQA1 alleles and environmental factors in psoriasis].

OBJECTIVE: To study of the HLA-DQA(1) alleles and environment interaction in type I psoriasis. METHODS: Using case-control study, 144 type I psoriatics and 273 healthy people were investigated. The HLA-DQA(1) alleles were examined by PCR-SSP. RESULTS: (1) HLA-DQA(1)*0104 and DQA(1)*0201 alleles were positively associated with type I psoriasis (P(c) < 0.002); HLA-DQA(1)*0501 allele was negatively associated with type I psoriasis (P(c) < 0.000 5). (2) The HLA-DQA(1)*0104 allele and moisture was interaction in type I psoriasis (P = 0.023 8, OR = 5.29). (3) There were no interactions between the HLA-DQA(1)*0201 allele and 10 environmental factors in type I psoriasis. (4) The HLA-DQA(1)*0501 allele, moisture (P = 0.002 4, OR = 7.50), eating fish and shrimp (P = 0.000 4, OR = 12.92), drugs (P = 0.043 3, OR = 9.43) or vaccination (P = 0.043 3, OR = 9.43) were interacted in type I psoriasis. CONCLUSIONS: (1) HLA-DQA(1)*0104 and DQA(1)*0201 alleles might be the susceptible genes or it may have close linkage with the susceptible gene. HLA-DQA(1)*0501 allele had protective effect against the development of type I psoriasis. (2) The HLA-DQA(1)*0104 and DQA(1)*0501 alleles increased risk possibility of environmental factors in type I psoriasis.

Adolescent↗

The epidemiology of childhood alopecia areata in China: a study of 226 patients.

To study the clinical and epidemiologic profile of childhood alopecia areata, we performed a survey in which a total of 226 childhood patients less than 16 years old were enrolled. Statistical analysis and heritability were performed using EPI INFO 6.0, SPSS10.0, and the Falconer method. The median age of onset was 10 years. The majority of patients (84.96%) presented with limited alopecia. The male : female ratio was 1.4:1. Boys appeared to have more severe involvement. The earlier the age of onset, the greater the severity of the disease. Sixty-seven patients (29.65%) had previous episodes of alopecia areata. Greater severity and longer duration were seen in the relapsing patients than in the primary patients. Six patients (2.65%) had an associated disease. A positive family history was reported in 25 patients (11.06%). The prevalence figures for alopecia areata in first-, second-, and third-degree relatives of the probands were 2.87%, 0.40%, and 0.13%, respectively. The heritabilities of AA in first-, second-, and third-degree relatives were 51.20%, 46.25%, and 25.65%, respectively. It can be speculated that the effect of genetic factors is important in the occurrence of this disease.

Adolescent↗

Profile of childhood vitiligo in China: an analysis of 541 patients.

From July to December 2002, we collected data from 2247 vitiligo patients in order to establish the clinical and epidemiologic profile of vitiligo in China. Of these patients, 541 (24.1%) were children aged equal to or less than 12 years. Of the 541 children, 274 (50.6%) were boys and 267 (49.4%) were girls, with a mean age of 8.87 years and a mean onset age of 7.28 years. Similar to adult patients, boys and girls were affected by vitiligo with equal frequency. The most frequent age of onset was between 4 and 8 years (42.5%). The mean duration of vitiligo was 19.71 months (range: 0-132 months). The most common type of vitiligo was vitiligo vulgaris, the frequency of which was 38.1%, followed by focal vitiligo (34.6%), segmental vitiligo (19.4%), acrofacial vitiligo (7.6%), and universal vitiligo (0.4%). Segmental vitiligo had an earlier the other types. Of the 541 children with vitiligo, 60 (11.1%) had a family history, and 3 (0.6%) had more than one family member who was affected. Forty-one (7.6%) children had an associated autoimmune disease: halo nevi and alopecia areata, which were observed in 39 (7.2%) and 2 (0.4%) children, respectively.

Adult↗