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Background: Because the prevalence of connective tissue disease (CTD)-associated interstitial lung disease (ILD; CTD-ILD) in China is unknown, we wanted to analyze the clinical characteristics of this disease in Chinese patients.Methods: The medical records of patients who received a diagnosis of ILD and treated in Shanghai Pulmonary Hospital from January 1999 to January 2013 were reviewed. Based on the records, patients who also received a diagnosis of CTD were identified, and their records of follow-up examinations for a minimum of 12 months until the end of December 2013 were reviewed.Results: Of the 2,678 patients who received a diagnosis of ILD, 1,798 (67%) were identified as having CTD-ILD; 299 (11.2%) had idiopathic pulmonary fibrosis (IPF). Complete clinical data were available for 1,044 patients with CTD-ILD and 178 with IPF. We found that 332 of the 1,044 patients with CTD-ILD (32%) did not receive an accurate diagnosis at the initial hospital admission, 195 (18.7%) of the 1,044 patients showed persistent negative test results for autoantibodies, and 262 (25.1%) of the 1,044 patients had negative autoantibodies at the initial hospital admission and then became positive at follow-up examinations. Of the 288 patients who had confirmed CTD-ILD, 41 (14%) showed pulmonary symptoms as the initial clinical manifestation (PSIM) and 247 (86%) showed extrapulmonary symptoms as the initial clinical manifestation (EPSIM). For the 756 patients who had undifferentiated CTD-ILD, the proportion of PSIM and EPSIM was 44% and 56%, respectively. For patients who presented with PSIM, 23 who had confirmed CTD-ILD (56%) and 216 who had unconfirmed CTD-ILD (65%) did not receive an accurate diagnosis at the initial visit but were ultimately diagnosed at subsequent follow-up examinations.Conclusions: Patients with CTD-ILD do not receive an accurate diagnosis at the initial hospital admission possibly because of negative serologic test results for autoantibodies and the absence of obvious extrapulmonary symptoms. Thus, patients with ILD should be examined for extrapulmonary symptoms and tested for autoantibodies at follow-up examinations. [ABSTRACT FROM AUTHOR]

Abstract: The allele and haplotype frequencies of HLA-A, -B and -DRB1 loci in 10,000 healthy unrelated Han individuals living in the Guanzhong region of the Shaanxi Province were analyzed with the methods of SSO, SSP and SBT. Subsequently, these data were compared with results obtained in Han populations living in other regions as well as to other ethnic groups, using genetic distance measurements, neighbor-joining dendrograms and principal component analysis. In total 18 alleles were detected at the HLA-A locus, 46 alleles at the HLA-B locus and 14 alleles at the HLA-DRB1 locus. HLA-A*02 was the most common HLA-A allele (29.70%), followed by A*11 (18.70%), and A*24 (15.75%); whereas at the HLA-B locus, the allele with the highest frequency was HLA-B*13 (10.76 %), followed by B*46 (7.93%), B*51 (7.68%). At the HLA-DRB1 locus, the most common alleles were HLA-DRB1*15 (15.54%), DRB1*09 (13.18%) and DRB1*04 (11.21%). Three-loci haplotype analysis revealed that HLA A*30- B*13- DRB1*07 (4.11%), A*02 -B*46 -DRB1*09 (2.57%) and A*33 -B*58 -DRB1*17 (1.32%) were the most common haplotypes in this population. Four two-loci haplotypes, including HLA-A*30-B*43, A*30-B*53, B*43-DRB1*07 and B*73-DRB1*04 had significant linkage disequilibrium (relative linkage disequilibrium parameter equals to 1). Compared with other populations, our results indicated that the Han populations in different regions had a similar allelic diversity of HLA -A, -B, and -DRB1 loci. The Han population in the Guanzhong region of the Shaanxi Province had a close genetic relationship with the Northern and Southern Han populations. In summary, the similarities and differences of the HLA allelic diversity and haplotype structure between the Han population in the Guanzhong region and related populations, regarding HLA genotype distribution, provide basic information for further studies of the HLA heterogeneity and anthropological studies. [Copyright &y& Elsevier]