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Periodontitis significantly increases the risk of diabetic complications. This clinical trial investigated the effects of periodontal therapy on cardiac function in patients with type 2 diabetes mellitus (T2DM) and periodontitis.Fifty-eight subjects with T2DM and periodontitis were randomly allocated to Treatment Group (n = 29) receiving non-surgical periodontal therapy, and Control Group (n = 29) having only oral hygiene instructions with delayed periodontal treatment until completion of this 6-month study. The left ventricle (LV) diastolic function was assessed by echocardiography with the tissue Doppler imaging index (E/e' ratio); and LV hypertrophy was evaluated by LV mass index (LVMI). Blood samples were collected for biochemical analysis.The intention-to-treat analysis showed that periodontal treatment significantly reduced the E/e' ratio by 1.66 (95% CI: -2.64 to -0.68, p .01), along with marked improvement of periodontal conditions (p .05). LVMI was not altered at the 6-month follow-up. The serum levels of N-terminal pro-B type natriuretic peptide (NT-proBNP) as a cardiac stress biomarker, C-reactive protein and interleukin-6 decreased numerically without reaching statistical significance.The present study provides the first evidence that non-surgical periodontal therapy may improve cardiac diastolic function in type 2 diabetic patients with periodontitis.

BACKGROUND AND OBJECTIVE Subjects with diabetes and periodontitis are at high risk of cardiovascular events, while the subclinical alterations of cardiac function in this cohort remain unclear. This cross-sectional study investigated the association of periodontitis with left ventricle (LV) structural and functional abnormalities in subjects with type 2 diabetes mellitus (T2DM). MATERIAL AND METHODS A total of 115 subjects with T2DM were divided into Control group (n = 32) with no or mild periodontitis, and the rest with moderate to severe chronic periodontitis (CP) were further categorized into CP-1 (n = 41) and CP-2 (n = 42) based on disease severity. Echocardiography was performed to precisely assess (a) LV hypertrophy by LV mass index (LVMi); (b) LV diastolic function by tissue Doppler imaging index E/e' ratio; and (c) LV systolic function by speckle tracking derived global longitudinal strain (GLS). RESULTS Overall, a linear trend in LVMi, E/e', and GLS existed among the Control, CP-1, and CP-2 groups, respectively (P

Background Periodontitis is closely linked with type 2 diabetes mellitus (T2DM) and endothelial dysfunction. This study investigated the effects of periodontal treatment on immuno-inflammatory gene expression of endothelial progenitor cells (EPCs) in diabetic patients. Methods Eighteen T2DM patients with moderate to severe chronic periodontitis were randomly assigned to the Treatment group with oral hygiene instruction (OHI), scaling and root debridement (n = 11), and Control group (n = 7) with OHI alone. Peripheral blood samples were taken for biochemical analysis and culture of EPCs at baseline and 6 months after the treatment. PCR array-based profiling of 84 Toll-like receptor signalling-related genes in EPCs was firstly assessed for four randomly selected patients from the Treatment group. The differentially expressed genes were then further validated by qPCR in both groups. Results All subjects in the Treatment group significantly improved their periodontal conditions. Among the 84 genes tested, IL-6 and IL-8 transcripts were significantly downregulated with over twofold change after the treatment, and this observation was further validated by qPCR in all subjects from both groups (p

To analyze the clinical parameters of the patients with femoral neck fracture such as general condition, therapy method, hospitalized expense so as to provide more effective management plan for the clinical work.The patients with femoral neck fracture above 50 years who received in-patient treatment from 2008 January to 2012 December were admitted into this study. We collected and analyzed the information, such as age, chronic medical disease, therapy method, hospitalized duration and expense and so on.There were 1 794 femoral neck fracture patients above 50 years (male/female=1/2.06) in our hospital in recent 5 years and the annual average rate of increase was 7.3%. The average age of the patients was (69.9±10.7) years and the annual average rate of increase was 0.6%. The chronic medical disease diagnosis ratio was 55.0%. The average waiting time for operation was (6.8±4.2) days and the average hospitalized duration was (12.9±4.9) days which showed downward trend in recent years. The most popular operations were cannulated screw internal fixation (41.8%) and artificial femoral head replacement (34.1%). In the study, 146 cases (7.9%) received nonsurgical treatment which showed downward trend. The average hospitalized expense was (35 075.7±11 343.2) yuan which showed no obvious change in recent years. The cost for the females was more than that for the males. The expense for hemiarthroplasty and total hip arthroplasty increased while that for cannulated screw internal fixation decreased gradually.The cannulated screw internal fixation and artificial femoral head replacement were the most important operations for the patients with femoral neck fracture. The number and the average age of the patients were on the rise while the expense showed no obvious change in recent years.

This study investigates the human papillomavirus (HPV) infection rate in female genital tracts, as well as the HPV genotype distribution and HPV correlation with cervical disease in Weihai, Shandong Province, China.A random sample of 9,460 volunteers was simultaneously screened using gene chips and examined by ThinPrep liquid-based cytology test (TCT). Cervical biopsy samples were collected from women with positive HPV-DNA and abnormal TCT for pathological diagnosis.The overall HPV prevalence was 6.93% (656 of 9,460). A total of 753 subjects were infected with HPV subtypes (including multiple HPV infections). Of those with infections, 688 were infected with high-risk (HR) types (91.37%), and 65 were infected with low-risk subtypes (8.63%). The single-infection rate was 63.1%.The prevalence rates of HPV in women aged 20 to 39 years and 40 to 59 years were 7.29% and 6.71%, respectively. The most common genotype was HPV16. The HR genotypes were associated with cervical diseases such as atypical squamous cells of undetermined significance (ASCUS) (37.9%), atypical squamous cells high grade (ASC-H) (42.5%), low grade squamous intraepithelial lesion (LSIL) (50%), and high grade squamous intraepithelial lesion HSIL (66.7%). Cervical biopsy results show that the HPV detection rate increased in the following biopsy samples: cervical intraepithelial neoplasia (CIN) I (74.11%), CIN II (84.31%), CIN III (90.32%), and squamous-cell carcinoma (SCC) (100%).The HPV infection rate with associated cervical disease in Weihai is equal to those in foreign countries but is lower than the average rate in China. The prevalence of HPV was higher in young people. The most common HPV genotype was 16, followed by 52 and 58. HR HPV is the most probable infection factor for cervical diseases.

Summary Background There is a high incidence of primary cutaneous amyloidosis (PCA) in South America, South-east Asia and Taiwan. To date, the aetiology of PCA remains unknown, but it is believed to be multifactorial. Although most cases are sporadic, some patients have a family history. Familial aggregation and different susceptibility to PCA among ethnic groups suggest that genetic factors may play an important role in its pathogenesis. However, no genetic loci for familial PCA (FPCA) have been identified so far. Objectives In order to identify the susceptibility gene of FPCA, we took a candidate gene approach and performed linkage analysis on chromosome 1q21.3–24.2, including the 1q23.2 region where the gene encoding serum amyloid P component (APCS) is located. Patients and methods Nine FPCA families including 29 individuals affected with PCA were recruited for this linkage study. Initially, 11 highly polymorphic microsatellite markers spanning the region from 1q21.3 to 1q24.2 were genotyped and revealed a suggestive linkage region. This region was further fine-mapped with seven additional markers. We also re-sequenced the 2·5-kb genomic region of the APCS gene in 29 affected and 42 control individuals. Two-point and multipoint linkage analyses were performed using the LINKAGE program. Nonparametric linkage (NPL) analysis and reconstruction of haplotypes were performed with the GENEHUNTER program. Results Both two-point and multipoint linkage analysis for all 11 markers generated negative or small positive total lod scores for all nine families. However, when we considered only three families, a maximum two-point total lod score of 2·09 was obtained for the marker D1S2844 at θ = 0·01. A plateau of multipoint total lod score between D1S2768 and D1S2878 with a maximum of 2·48 at the marker D1S2844 was observed. A maximum NPL score of 3·11 (P = 0·008) was also obtained for the marker D1S2878. However, re-sequencing of the APCS gene identified no functional mutation. Conclusions Both parametric and nonparametric linkage evidence suggested that a possible susceptibility locus for a subset of FPCA might exist on chromosome 1q23. This is the first report demonstrating suggestive evidence of linkage of FPCA to a locus in this candidate region. No functional sequence variations of the APCS gene were found to be associated with this disease among the study families. Our data imply the existence of at least one additional locus responsible for FPCA in these families, confirming genetic heterogeneity of this skin disorder.

Primary cutaneous amyloidosis (PCA) is a relatively common skin disorder among Asians and South Americans. It is usually diagnosed clinically. However, for cases with atypical presentations, the diagnosis can be a challenge and skin biopsy may be necessary. Dermoscopy has been proved to be a valuable, noninvasive tool in the diagnosis of cutaneous pigmented diseases. Most lesions of PCA show hyperpigmentation and the major histopathological abnormalities of PCA occur in the epidermis and dermal papillae. Dermoscopy might be a powerful tool to provide valuable information for the diagnosis of PCA.We aimed to find characteristic dermoscopic features of PCA.Cases with typical clinical presentations of PCA, either macular or lichen subtypes, were included in this study. All were evaluated using a hand-held, polarized and nonpolarized dermoscope.A total of 35 patients with clinically diagnosed PCA were enrolled. Eighteen patients had lesions consistent with macular amyloidosis and 17 with lichen amyloidosus. We found two major dermoscopic patterns characteristic of PCA. The most common dermoscopic finding of PCA was a central hub, which could be either white or brown, surrounded by various configurations of pigmentation. For cases of lichen amyloidosus with prominent hyperkeratosis, the central hub was replaced by a scar-like morphology.This is the first study to report the characteristic dermoscopic features of PCA. We demonstrate that the use of a dermoscope may assist in achieving an accurate diagnosis of PCA.

Alopecia areata (AA) may be related to stress and has been reported to be associated with psychiatric disorders. Nevertheless, a nationwide study of the relationship between AA and comorbid psychiatric diseases has not been conducted, and the effect of onset age has rarely been reported.To analyse the associations between AA and various psychiatric disorders using a nationwide database in Taiwan.Data were obtained from the National Health Insurance Research Database of Taiwan from 2000 to 2009. In total, 5117 patients with AA and 20 468 age- and gender-matched controls were enrolled.Patients with AA tended to have more coexisting anxiety and less comorbid schizophrenia. Differences in ages of onset revealed differences in comorbidities. An increased risk of depression [odds ratio (OR) 2·23; 95% confidence interval (CI) 1·09-4·54] was found in patients with AA aged20years. An increased rate of anxiety (OR 1·43; CI 1·15-1·77) was observed with AA onset between the ages of 20 and 39years. The highest odds of obsessive-compulsive disorder (OR 3·00; CI 1·11-8·12) and anxiety (OR 2·05; CI 1·56-2·68) were observed in patients with AA aged 40-59years. Moreover, about 50% of psychiatric disorders occurred earlier than AA.AA is related to various psychiatric disorders. Onset age of AA is an important factor in the association with different comorbid psychiatric diseases. In addition to cosmetic impact, which may bring about anxiety or depression, stress neuroendocrine immunology may play an important role in the pathogenesis of both AA and psychiatric disorders.

Bullous pemphigoid (BP) has been associated with neurological and psychiatric diseases; however, large-scale population-based study of different comorbid diseases in patients with BP is quite limited.We sought to analyse the prevalence of neurological, psychiatric, autoimmune and inflammatory skin diseases prior to the diagnosis of BP and their associations with BP among patients with BP from a nationwide database in Taiwan.A total of 3485 patients with BP and 17,425 matching controls were identified from the National Health Insurance Database in Taiwan from 1997 to 2008. Conditional logistic regression analyses for a nested case-control study were performed to examine the prevalence of comorbidities prior to the diagnosis of BP between these two groups.Overall, our results showed that stroke [odds ratio (OR) 3·30; 95% confidence interval (95% CI) 3·03-3·60], dementia (OR 4·81; 95% CI 4·26-5·42), Parkinson disease (OR 3·49; 95% CI 3·05-3·98), epilepsy (OR 3·97; 95% CI 3·28-4·81), schizophrenia (OR 2·56; 95% CI 1·52-4·30) and psoriasis (OR 2·02; 95% CI 1·54-2·66) were significantly associated with BP. Among them, the association with schizophrenia and psoriasis was predominant in female and male patients, respectively, with BP. It remains for all these comorbid diseases to be independently associated with BP by multivariate analysis.Patients with BP are more likely to have various neurological diseases, schizophrenia and psoriasis prior to the diagnosis of BP, supporting associations found in other studies. Further research is required to elucidate the tentative causal association with BP.

Background: About 20% of familial amyotrophic lateral sclerosis (ALS) is caused by mutations in SOD1 and is typically transmitted as an autosomal dominant trait. However, due to reduced mutation penetrance, the disease may present in a recessive or sporadic manner. Objective: To determine the factors responsible for the low penetrance of the SOD1 mutation. Methods: Twelve members of a Canadian ALS family of Filipino origin were recruited for the study. SOD1 was sequenced in the proband. SOD1 expression was assessed by real-time-PCR and immunoblotting. Results: The proband was a homozygous carrier of a novel 6 bp deletion in exon 2 (ΔG27/P28), the pathologic significance of which was confirmed by immunohistochemistry. Eight living family members are heterozygotes and remain unaffected at ages ranging between 48 and 85 years. Haplotype analysis showed that the deletion is a single founder mutation likely common in the Cagayan province (Philippines). The low penetrance of the mutation is explained by the fact that it enhances the naturally occurring alternative splicing of exon 2 of the SOD1 mRNA, leading to reduced transcription of the mutant allele. Indeed, Western blot analysis demonstrated the low level of SOD1 protein in carriers of the ΔG27/P28 compared to wild-type individuals or a carrier of the A4V SOD1 mutation. Conclusion: The enhanced splicing of exon 2 acts as a natural knock-down of the mutant SOD1 allele in the Filipino amyotrophic lateral sclerosis (ALS) family. There is a need for careful investigation of splicing isoforms of SOD1 and other ALS genes as factors influencing the severity of disease.

Primary cutaneous amyloidosis (PCA) is a relatively common skin disorder in South America and Southeast Asia. Most cases of PCA are sporadic but familial aggregation has been reported from South America and Taiwan. The different susceptibility among ethnic groups suggests that genetic factors may play an important role in its pathogenesis.We aimed to perform a genome-wide scan by linkage analysis across 15 families with familial primary cutaneous amyloidosis (FPCA) to map the disease gene(s) for FPCA.A total of 15 FPCA families including 50 individuals affected with PCA were recruited. Throughout the 22 autosomes, 369 polymorphic microsatellite markers were used initially. Regions showing a LOD score1 identified in the initial scan were further analysed with additional markers. Two-point and multipoint linkage analysis were performed by using the LINKAGE program. Nonparametric linkage (NPL) analysis and reconstruction of haplotypes were performed with the GENEHUNTER program.A maximum two-point LOD score of 4.76 for the marker D5S1490 (theta = 0.10, alpha = 0.60) and a multipoint LOD score of 4.50 between D5S822 and D5S623 (alpha = 0.60) were obtained under the assumption of heterogeneity. A peak NPL score of 5.23 (P value = 0.000007) was found from D5S1490 to D5S2076. Further analysis focusing on two major families identifies a common haplotype shared by all affected individuals between D5S1490 and D5S623. To our knowledge, this is the first report of genome-wide analysis of a large number of FPCA pedigrees.Our study provides evidence for significant linkage to chromosome 5p13.1-q11.2 in a subset of FPCA families.

Besides the HLA-Cw*0602 allele, the psoriasis susceptibility 1 candidate 3 (PSORS1C3) and corneodesmosin (CDSN) genes are two probable psoriasis susceptibility genes in the PSORS1 locus. The -79C, -26C and +246A alleles of the PSORS1C3 gene, the CDSN*971T allele, CDSN*TTC (619T-1236T-1243C) and CDSN*5 (619T-1240G-1243C) are strongly associated with psoriasis in the caucasian population. Until now, no haplotype study of the PSORS1C3 and CDSN genes has been documented in Chinese patients with psoriasis vulgaris.We aimed to determine whether genetic polymorphisms of the PSORS1C3 and CDSN genes were associated with an increased risk of psoriasis vulgaris in Chinese patients in Taiwan.We investigated the PSORS1C3 and CDSN genes for disease association by direct sequencing in 178 patients with psoriasis vulgaris and 203 control subjects. Genotyping for HLA-Cw*0602, alpha-helix coiled-coil rod homologue (HCR) gene and single nucleotide polymorphism (SNP) n.9 was also carried out using a sequence-based typing method.The PSORS1C3*582A allele, an SNP in the 3'-untranslated region of the PSORS1C3 gene, was a major psoriasis vulgaris susceptibility allele in the Chinese population, and the association was much stronger in patients with early-onset psoriasis vulgaris (22.3% vs. 6.9%, odds ratio = 3.87, P(c) =0.0000072). The frequencies of CDSN*TTC and CDSN*971T were also significantly increased in patients with early-onset psoriasis vulgaris. Moreover, PSORS1C3*582A, SNP n.9*C, Cw*0602 and HCR*WWCC were in near complete linkage disequilibrium (LD) with each other; in contrast, the LD with the CDSN gene was not so strong. SNP n.9*C-Cw*0602-PSORS1C3*582A-HCR*WWCC was a major susceptibility haplotype in patients with early-onset psoriasis vulgaris (P10(-7)) and this risk haplotype also carried CDSN*TTC and CDSN*971T.The PSORS1C3 and CDSN genes are important psoriasis susceptibility genes in Chinese patients with psoriasis vulgaris.

An uncommon histiocytosis primarily involving the lymph nodes, Rosai-Dorfman disease (RDD, originally called sinus histiocytosis with massive lymphadenopathy) involves extranodal sites in 43% of cases; cutaneous RDD (C-RDD) is a rare form of RDD limited to the skin. The clinicopathological diagnosis of C-RDD may sometimes be difficult, with different clinical profiles from those of its nodal counterpart, and occasionally misleading histological pictures. There have been few multipatient studies of C-RDD and documentation of its histological spectrum is rare.To identify the clinical and histopathological profiles, associated features, and the chronological changes of this rare histiocytosis.From 1991 to 2002, patients diagnosed as having C-RDD were collected in four academic hospitals. Clinical presentations, treatments, and courses of each case were documented. In total, 21 biopsy specimens obtained from these patients were re-evaluated and scored microscopically with attention to the uncommon patterns and chronological evolution both clinically and histologically.We examined six patients with C-RDD, three men and three women. The mean age at the first visit was 43.7 years. The clinical presentations were mostly papules, nodules and plaques, varying with the duration and depth of lesions. Although the anatomical distribution was wide, the face was most commonly involved. Evolutional changes were identified clinically, as the lesions typically began with papules or plaques and grew to form nodules with satellite lesions and resolved with fibrotic plaques before complete remission. No patient had lymphadenopathy or extracutaneous lesions during follow-up (mean 50.5 months). At the end of follow-up, the lesions in four patients had completely resolved irrespective of treatment; two patients had persistent lesions. The histopathological pattern of the main infiltrate, the components of cells and the stromal responses showed dynamic changes according to the duration of lesions. The characteristic Rosai-Dorfman cells (RD cells) were found in association with a nodular or diffuse infiltrate in 15 lesions (71%). Four lesions (19%) demonstrated a patchy/interstitial pattern. One lesion (5%) assumed the pattern of a suppurative granuloma. RD cells were less readily found in these atypical patterns. Conspicuous proliferation of histiocytes associated with RD cells was found in three lesions, including xanthoma, localized Langerhans cell histiocytosis and xanthogranuloma. Along with lymphocytes, plasma cells were present in all lesions, often in large numbers with occasional binucleated or trinucleated cells. Variably found in the lesions were neutrophils (nine lesions, 43%) and eosinophils (13 lesions, 62%). The former occasionally formed microabscesses, while the latter were often few in number. Vascular proliferation was a relatively constant feature (90%). Fibrosis was found in 10 lesions (48%).Our study further confirms that C-RDD is a distinct entity with different age and possibly race distributions from RDD. Compared with its nodal counterpart, C-RDD demonstrates a wider histopathological spectrum with different clinicopathological phases depending on duration of the lesions. Awareness of these features is helpful in making a correct diagnosis. The associations of C-RDD with other histiocytoses may have important implications for the pathogenesis of this rare histiocytosis.

Bullous pemphigoid (BP) is an autoimmune bullous disease mostly associated with autoantibodies to the hemidesmosomal BP autoantigens BP180 and BP230. High levels of interleukin (IL)-1beta, IL-4, IL-5, IL-6, IL-8, IL-10, IL-13, tumour necrosis factor (TNF)-alpha and interferon (IFN)-gamma have been detected in skin lesions or sera of patients with BP. Cytokine gene polymorphisms may affect cytokine production and contribute to susceptibility to autoimmune diseases. Until now, no cytokine gene polymorphism study has been conducted on patients with BP.We aimed to determine whether the genetic polymorphisms of the cytokine genes might influence the development of BP.DNA samples were obtained from 96 BP patients and 174 control subjects. Using direct sequencing and microsatellite genotyping, we examined 23 polymorphisms in 11 cytokine genes including the IL-1alpha, IL-1beta, IL-1 receptor antagonist, IL-4, IL-6, IL-8, IL-10, IL-13, IL-4 receptor, TNF-alpha and IFN-gamma genes.Although the BP patients were more likely to carry the -511T and -31C alleles of the IL-1beta gene (P = 0.04), the significance disappeared after correction for multiple testing (Pc). There was complete linkage disequilibrium between the -511T and -31C alleles of the IL-1beta gene. In female patients with BP, the associations with IL-1beta (-511T) and (-31C) alleles were much stronger (68% vs. 40.6%, odds ratio = 3.11, Pc = 0.006). No significantly different allelic and genotypic distributions of other cytokine gene polymorphisms could be found between the patients with BP and controls. Moreover, no association with the extent of disease involvement (localized or generalized) was observed.The IL-1beta (-511) and (-31) polymorphisms were significantly associated with BP in women. The other genetic polymorphisms of cytokine genes that we analysed do not appear to be associated with BP susceptibility in our Chinese population.

Although genetics analyses have identified the HLA-Cw6 allele to be the major risk allele for psoriasis vulgaris (PV) in many racial groups, it has been proposed that other putative genes near the HLA-C locus are involved in PV susceptibility and that the association of Cw6 is a result of linkage disequilibrium. The SPR1 gene, a predicted gene located 128 kb telomeric to the HLA-C locus, is considered to be one potential candidate gene of PV. Until now, no association study of the SPR1 gene has been conducted on psoriasis patients. We investigated the SPR1 gene for disease association by direct sequencing of the SPR1 gene in 116 Chinese patients with PV and 116 normal subjects. Genotyping for HLA-Cw6 was also carried out using polymerase chain reaction/restriction fragment length polymorphism. Significant increase of the HLA-Cw6 allele was found in psoriasis patients (32.8% vs. 13.8%, P = 0.001). We found that the SPR1 gene is a highly polymorphic gene containing 13 single nucleotide polymorphisms (SNPs), two of which have not been previously reported, and four SNPs cause amino acid change. No significantly different allelic distribution of 13 SPR1 SNPs could be found between the patients with PV and controls after correction for multiple testing. If the frequencies of SPR1 SNPs were compared between the early onset psoriatics and control subjects, early onset patients were more likely to have G allele at position 988 (60% vs. 35.3%, P = 0.001). However, the significance disappeared upon stratification for the Cw6 status. Haplotype-based association analysis showed two susceptibility haplotypes (types 8 and 19) in early onset psoriasis patients. Nonetheless, the significance also disappeared after stratification of the Cw6 status. Our results suggest that HLA-Cw6 remains the major risk allele in Chinese psoriatics, and that the SPR1 gene might not play an important role in the causation of PV.

Genetic analyses have identified the HLA-Cw6 allele as the major risk allele for psoriasis in many racial groups. However, by serological typing, HLA-Cw6 is not considered a risk factor in Chinese psoriatics. There are several susceptibility genes for psoriasis residing in chromosome 6p near the HLA-C locus, including the corneodesmosin (CDSN) gene, the octamer transcription factor-3 (POU5F1) gene, the major histocompatibility complex class I chain-related gene A (MICA), and the gene for tumour necrosis factor (TNF)-alpha. However, the information about their role in psoriasis in Chinese patients is limited.We aimed to determine whether Cw6 and the genetic polymorphism of the CDSN gene, POU5F1 gene, MICA gene and the gene for TNF-alpha promoter region were associated with an increased risk of psoriasis in Chinese patients.We conducted a case-control association study in 105 Chinese patients with psoriasis vulgaris and 160 control subjects of similar ages. Genotypes of Cw6, the CDSN gene, the POU5F1 gene, and the gene for the TNF-alpha promoter region were determined by polymerase chain reaction (PCR) followed by restriction enzyme digestion. Genotyping of MICA was determined by PCR combined with fluorescent-based automated fragment detection technology. Results The allele frequencies showed no differences between patients and controls for the POU5F1 gene, MICA gene and the gene for TNF-alpha promoter region. The frequency of the HLA-Cw6 allele in the psoriasis group was significantly higher than that in the control group (18.6% vs. 6.56%, P0.00005). For the CDSN gene, patients were more likely to have C allele at position +619 (P = 0.006) and C allele at position +1243 (P = 0.007), but the significance disappeared after correction for multiple testing (Pc0.05).HLA-Cw6 remains the most significant susceptibility gene in Chinese patients with psoriasis. However, the role of the CDSN gene in the pathogenesis of psoriasis deserves further scrutiny.

This study focused on the molecular and pharmacological characterization of muscarinic acetylcholine receptors expressed by progenitors and differentiated oligodendrocytes. We also analyzed the role of muscarinic receptors in regulating downstream signal transduction pathways and the functional significance of receptor expression in oligodendrocytes. RT-PCR analysis revealed the expression of transcripts for M3, and to a lesser extent M4, followed by M1, M2 and M5 receptor subtypes in both progenitors and differentiated oligodendrocytes. Competition binding experiments using [(3)H]N-methylscopolamine and several antagonists, as well as inhibition of carbachol-mediated phosphoinositide hydrolysis, showed that M3 is the main subtype expressed in these cells. In progenitors the activation of p42/44-mitogen-activated protein kinase (MAPK) and cAMP-response element binding protein (CREB) as well as c-fos mRNA expression were blocked by the M3 relatively selective antagonist, 4-DAMP, and its irreversible analogue, 4-DAMP-mustard. Carbachol increased proliferation of progenitors, an effect prevented by atropine and 4-DAMP, as well as by the MAPK kinase inhibitor PD98059. These results indicate that carbachol modulates oligodendrocyte progenitor proliferation through M3 receptors, involving activation of a MAPK signaling pathway. Receptor density and phosphoinositide hydrolysis are down-regulated during oligodendrocyte differentiation. Functional consequences of these events are a reduction in carbachol-stimulated p42/44(MAPK) and CREB phosphorylation, as well as induction of c-fos.

To determine the association of Epstein-Barr virus (EBV) with primary cutaneous amyloidosis (PCA), a retrospective study was conducted on skin tissue from 27 Chinese patients with lichen amyloidosus and macular amyloidosis. In situ hybridization with oligonucleotide probes was used to detect the expression of EBV-encoded RNAs (EBERs). Eleven of 27 cases (40.7%) were found to contain the EBV genome. No EBV genome was detected in the skin of the control groups, including three cases of secondary cutaneous amyloidosis, two cases of primary systemic amyloidosis, and four cases of lichen simplex chronicus. Our study showed no correlation between the presence of EBV in PCA patients and the patients' age, sex, clinical type or severity of the skin lesions. Although our results suggest that EBV may be associated with some cases of PCA, the true aetiological role of EBV in PCA remains unknown.

The long-term use of immunosuppressive agents may cause profound suppression of the cutaneous immune function. Because epidermal Langerhans cells (LC) play an important role in the cutaneous immune system, they could be the target of immunosuppressants. Since little information is available about the direct immunosuppressive effects of methotrexate (MTX) and azathioprine (AZA) on LC, we studied the viability and immunostimulatory effects of purified LC after pulsation with MTX or AZA at various concentrations. Both MTX and AZA started to suppress the mixed LC-T lymphocyte reaction (MLCLR) significantly at a concentration of 1 microgram/ml. However, the suppressive effect of MTX was not dose-dependent; no further suppression was seen up to a concentration of 1 mg/ml. MTX showed no inhibitory effect on the viability of LC even at concentrations as high as 1 mg/ml. In contrast, the suppressive effect of AZA on the MLCLR was dose-dependent and AZA at a concentration of 500 micrograms/ml or higher markedly decreased the viability of LC. Our study confirmed the immunosuppressive effect of MTX and AZA on epidermal LC. In comparison to MTX, AZA at pharmacological levels showed stronger inhibitory effects on alloantigen-presenting capacity of human epidermal LC and was more cytotoxic to LC. In the therapeutic range, however, MTX and AZA probably have no direct effect on epidermal LC. Our study supports the notion that long-term immunosuppressants deplete cutaneous LC by bone marrow suppression.

We reviewed 86 cases of bullous pemphigoid and the results were compared with those reported in the literature. Seventy-eight per cent of the patients developed generalized blisters and 22% had localized blisters, including three cases of dyshidrosiform pemphigoid and one case of pretibial pemphigoid. Oral mucosal involvement was noticed in 12.8% of the patients. Fifteen per cent of the patients had internal malignancies but the incidence was not significantly different from the control group. Direct immunofluorescence in our series showed a high positive rate of 98.8%. Indirect immunofluorescence was positive in 48.1% of the 54 patients in whom this was carried out. Peripheral blood eosinophilia was observed in 22.1% of the patients. Prednisolone alone or in combination with immunosuppressive agents was the mainstay of treatment. Treatment side-effects was observed in 33% of the patients. Thirty per cent of the patients had a complete remission after a mean follow-up period of 26.9 months. Bullous pemphigoid (BP) is a chronic debilitating autoimmune blistering disease. It is characterized clinically by generalized tense bullae and histologically by subepidermal blisters. Immunofluorescence is crucial in the diagnosis and shows linear deposits of C3 and/or IgG at the basement membrane zone (BMZ). Information regarding this disease in Chinese patients is quite limited. In this study, 86 patients with BP were reviewed. The clinical and histological features, immunofluorescence, modes of therapy and outcome were studied.

The development of connective tissue diseases in patients who have had silicone gel breast implants has not been previously described in Taiwan. Herein, we report a 44-year-old female patient who underwent a silicone gel breast implant approximately 10 years prior to the onset of scleroderma. She developed generalized sclerosis, severe defective esophageal clearance, and severe reduction of gas exchange with DLco 37% of predicted value. Immunologic tests revealed that the antinuclear antibody titer was 1:2,560 with speckled pattern and positive anti-Scl-70 antibody. In spite of prednisolone and D-penicillamine treatment, her condition deteriorated. However, following the removal of the prosthesis, short-term subjective and objective improvements in both skin lesions and pulmonary function were noted. It is important that plastic surgeons, rheumatologists, and dermatologists, as well as primary care physicians, be aware of the possible association of sclerosis with silicone gel breast implants.

We retrospectively studied 42 patients hospitalized for Stevens-Johnson syndrome at the Veterans General Hospital-Taipei between 1979 and 1991. Twenty-seven patients were males and 15 females; the ages ranged from 7 months to 82 years old with a mean age 50. The most common precipitating factor was drugs among which diphenylhydantion was the leading offender followed by nonsteroidal anti-inflammatory agents and allopurinol. Sixteen cases might be etiologically associated with infection, including 13 with upper respiratory infection, one with acute hepatitis B, one with pulmonary tuberculosis, and one with fever of unknown origin that was suspected to be viral infection. Although mycoplasma infection was thought in the literature to be a common etiologic factor of Stevens-Johnson syndrome, it was scarcely found in our study. Four patients were not treated with systemic steroids but still recovered uneventfully. Systemic steroid as a whole was not proved to be necessary, but early large-dose steroid therapy might abbreviate the course of the disease. The mortality rate was 11.9% which differs unremarkably from the reported rate (5-15%). Two patients died of pneumonia with sepsis, one of hemorrhagic shock (bleeding of adenocarcinoma of stomach), one of aspiration pneumonia, and one of sepsis with disseminated intravascular coagulation, upper gastrointestinal bleeding, and hyperglycemic hyperosmolar nonketotic coma.

Tinea unguium (TU) is very common in tropical and subtropical regions. An inexpensive, quick and sensitive test is essential for screening the nail specimens. We investigated if a test using potassium hydroxide (KOH)-treated nail clippings, which were then crushed and stained with periodic acid-Schiff (PAS), could be useful for diagnosing TU. The new method (abbreviated as KONCPA) was proved to be more fruitful to identify fungal hyphae in comparison with conventional KOH nail scraping preparation, histopathologic examination and fungal culture. The positive rates of each method were 77, 44, 60 and 16%, respectively. All 10 KONCPA-negative nails failed to show fungus by the other three methods. The KONCPA slides can be permanently stored as records. In addition, we also found that treatment of nail specimens in 20% KOH at 56 degrees C for 10 min prior to histopathologic processing is a simple method to soften the nail plate.

We report 14 cases of leukemia cutis registered at Department of Dermatology, Veterans General Hospital Over a period of 18 years. There were one patient with acute lymphocytic leukemia (ALL), one with chronic lymphocytic leukemia (CLL), seven with acute monocytic leukemia (AMOL), one with acute myelomonocytic leukemia (AMML), and four with chronic myelocytic leukemia (CML). Multiple papules and nodules were the most frequent clinical lesions. Metastatic skin lesions occurred most commonly on legs (71%), followed by arms (64%), back (50%), anterior chest (50%), scalp (14%), and face (14%). The feet (7%) were rarely involved while palms and soles were rarely involved. Cutaneous leukemic lesions may be concomitant with or after, but never before the diagnosis of systemic leukemia in our series has had such change. In general, the histopathology of leukemia cutis showed diffuse or nodular infiltration of leukemic cells in the dermis and subcutaneous tissue, often typing of leukemia relays on more confirmative studies of peripheral smear and bone marrow biopsy. Leukemia cutis seems to be dissemination of systemic leukemia to the skin, and the presence of cutaneous leukemic lesions are associated with a very poor prognosis. Most patients (85%) died within 4 months after appearance of skin metastasis.

To provide updated clinicopathologic information on malignant melanoma, we studied 22 cases of malignant melanoma registered at Tri-Service General Hospital, Taiwan from 1983 to 1988. About 60% (13/22) of the patients had a tumor thickness of more than 2.5 mm and 45% (10/22) of the patients of over 4 mm. No patient had a thin melanoma (tumor thickness less than 0.76mm) when first diagnosed. Forty-four percent of the patients, which was twice as many as those (22%) in a previous study done at the same hospital, were classified as stage III. Eleven patients (50%) had acral lentiginous melanoma, the most common type of malignant melanoma in Orientals as previously reported. The cumulative survival rate was 59% and 39% at 3 years and 5 years respectively. The age primary sites, clinical stage and tumor thickness were retrospectively evaluated. Due to the small sample size, the accuracy of the statistical analysis of survival is questionable. An extensive island-wide multicenter epidemiologic study is mandatory to clarify this issue.

Typical sebaceous hyperplasia is recognized by the yellowish color, lobulated configuration, and central umbilication. Other skin lesions that may be similar in appearance include basal cell epithelioma, molluscum contagiosum, and xanthoma. Chemical cauterization with phenol or trichloroacetic acid is worth trying if the sebaceous hyperplasia is in the middle or upper dermis. When the hyperplasia extends into the subcutaneous tissue, however, these topical agents are less effective.

Five patients with Sweet's syndrome with typical clinical and histologic features were reviewed. Attention is drawn to the possible association of drug use, venipuncture and insect bite, resection of colon, exacerbation of sinusitis, and acute myelocytic leukemia with the onset of the skin eruptions in our patients. The question of whether Sweet's syndrome is just a reactive phenomenon or a specific entity is raised. Our opinion is that Sweet's syndrome is a reaction to many different antigens. However, characteristic clinical and histologic features are present to allow a definite diagnosis of Sweet's syndrome. We propose two major criteria and four minor criteria for the diagnosis of Sweet's syndrome. Findings in patients must fulfill both of the major criteria and at least two of the minor criteria to allow a diagnosis of Sweet's syndrome.

Three different surface markers (OKT6, HLA-DR, and adenosinetriphosphatase) were compared to identify Langerhans' cells, and the changes in number and morphology of these cells were studied at different intervals after irradiation of human skin by a 2.5-fold minimal erythema dose of ultraviolet A. Morphologic alteration and decreased surface-marker reactivity became evident on day 2 and were most pronounced on day 3 or day 4 (injury phase). The recovery phase started between day 4 and 1 week and was complete by 3 weeks. HLA-DR+/OKT6- (DR+T6-) cells were present at all time intervals. The ratio of these cells to the sum of DR+T6- and DR+T6+ cells was 0.3% before irradiation, reached a peak of 65.4% at day 4, and decreased to 0.6% by 3 weeks.