OBJECTIVE: To identify the gene mutation types of 4 suspected β-thalassemia patients in Yunnan Province, and to analyze the genotypes and hematological phenotypes. METHODS: Whole genome sequencing was performed on the samples of 4 suspected β-thalassemia patients from the Dai ethnic group in a thalassemia endemic area of Yunnan Province, whose hematological phenotypes were not consistent with the results of common thalassemia gene mutations. The mutations of β-globin gene clusters were confirmed by polymerase chain reaction (PCR) and Sanger DNA sequencing technology. RESULTS: The 3.5 kb deletion in β-globin gene cluster (NC_000011.10: g. 5224302-5227791del3490bp) was detected in 4 patients' samples, of which 1 case was also detected with HbE mutation and 1 case with CD17 mutation. These 2 patients displayed moderate anemia phenotype, while the two patients with only the 3.5 kb deletion presented with other mild anemia phenotype. CONCLUSION Heterozygous carriers with rare 3.5 kb deletion of the β-globin gene cluster may develop mild anemia, compound mutations of the 3.5 kb deletion with other mutations may led to intermediate thalasemia with moderate to sever anemia. In areas with a high incidence of thalassemia, suspected patients should undergo genetic testing to avoid missing or misdiagnosing rare mutations.
Humans ; beta-Globins/genetics* ; Multigene Family ; beta-Thalassemia/genetics* ; Mutation ; Genotype ; Sequence Deletion ; Phenotype ; Male ; Female

Objective: To investigate the lignans compounds constituents of Lavandula angustifolia. Methods: The chemical constituents were isolated and purified by TLC, silica gel, MCI-gel, and RP-HPLC, and their structures were identified by analysis of spectroscopic evidences and physicochemical properties. Results: A total of 11 constituents were isolated from L. angustifolia and elucidated as pinoresinol (1), syringaresinol (2), fraxiresinol-4'-O-β-D-glucopyranoside (3), syringaresinol-4'-O-β-D-glucopyranoside (4), 8-hydroxypinoresinol-4-O-β-D-glucopyranoside (5), rel-(2α,3β)-7-O-methylcedrusin (6), lariciresinol-4'-O-β-D-glucoside (7), (2S,3R)-2,3-dihydro-2-(4-hydroxy-3-methoxyphenyl)-3-hydroxymethyl-7-methoxybenzofuran-5-(trans) propen-1-ol-3-O-β-glucoside (8), (7S,8R)-dihydrodehydrodiconiferyl alcohol-9-β-D-glucopyranoside (9), (7R,8R)-7,8-dihydro-9'-hydroxyl-3'-methoxyl-8- hydroxymethyl-7-(4-hydroxy-3-methoxyphenyl)-1'-benzofuranpropanol-9'-O-β-D-glucopyranoside (10), and (E)-3-((2S,3S)-2-(4- hydroxy-3-methoxyphenyl)-3-hydroxymethyl-7-methoxy-2,3-dihydrobenzofuran-5-yl) allyl-2-hydroxyacetate (11). Conclusion: The 11 compounds are isolated from this plant for first time.

Background: On diagnosis of human immunodeficiency virus (HIV) infection, a person may have been infected already for many years. This study aimed to estimate the duration of HIV infection at the time of diagnosis. Methods: Newly diagnosed HIV cases in Dehong, China, from 2008 to 2015 were studied. Duration of infection at the time of diagnosis was calculated using the first CD4 cell count result after diagnosis and a CD4 depletion model of disease progression. Multiple linear regression analysis was used to investigate the associated risk factors. Results: A. : total of 5867 new HIV cases were enrolled. Overall, mean duration of infection was 6.3 years (95% confidence interval [CI]: 6.2, 6.5). After adjusting for confounding, significantly shorter durations of infection were observed among participants who were female (beta: -0.37, 95% CI: -0.64, -0.09), Dai ethnicity (beta: -0.28, 95% CI: -0.57, 0.01), and infected through injecting drug use (beta: -1.82, 95% CI: -2.25, -1.39). Compared to the hospital setting, durations were shorter for those diagnosed in any other settings, and compared to 2008, durations were shorter for those diagnosed all years after 2010. Conclusion Although the reduction in duration of infection at the time of diagnosis observed in Dehong was significant, it may not have had a meaningful impact.
Adult ; CD4 Lymphocyte Count ; China ; Female ; HIV Infections ; diagnosis ; Humans ; Male ; Middle Aged ; Risk Factors ; Substance-Related Disorders ; Time Factors ; Young Adult

Objective This study was mainly focused on styudy on he proteome profile change between exposure to 1-Bromopropane (1-BP) and 1-BP poisoning.Methods The samples of serums from exposure to 1-BP and 1-BP poisoning were collected and analyzed through Label free proteome technology platform.The differently expressed proteins between the two groups were quantified and identified,followed by function analysis by bioinformatics.Results 127 proteins over 2 fold-change were selected,in which 39 proteins were up-regulated and 88 proteins were down-regulated.These differently expressed proteins were mainly involved in the process of enzyme active regulation,inflammatory reaction,protein modification,stress response,coagulation,transport.Conclusion The differently expressed proteins provided the potential protein biomarkers for the early diagnosis of 1-BP poisoning and was beneficial for clinical diagnosis of 1-BP and understanding of the mechanism of 1-BP poisoning.

Objective This study was mainly focused on styudy on he proteome profile change between exposure to 1-Bromopropane (1-BP) and 1-BP poisoning.Methods The samples of serums from exposure to 1-BP and 1-BP poisoning were collected and analyzed through Label free proteome technology platform.The differently expressed proteins between the two groups were quantified and identified,followed by function analysis by bioinformatics.Results 127 proteins over 2 fold-change were selected,in which 39 proteins were up-regulated and 88 proteins were down-regulated.These differently expressed proteins were mainly involved in the process of enzyme active regulation,inflammatory reaction,protein modification,stress response,coagulation,transport.Conclusion The differently expressed proteins provided the potential protein biomarkers for the early diagnosis of 1-BP poisoning and was beneficial for clinical diagnosis of 1-BP and understanding of the mechanism of 1-BP poisoning.

OBJECTIVETo investigate the changes in serum protease and cytokine in patients with silicosis, tuberculosis, and lung cancer.

METHODSSerum samples of patients with silicosis, tuberculosis, and lung cancer were collected. The variation trends of the expression of granzyme A, cathepsin G, apolipoprotein A, and interferon-β (IFN-β) were analyzed using enzyme-linked immunosorbent assay.

RESULTSThe concentration of apolipoprotein A of the silicosis group was 200 µg/ml, significantly higher than those of the tuberculosis and lung cancer groups (P < 0.05), and the lung cancer group had a significantly higher concentration of apolipoprotein A compared with the tuberculosis group (P < 0.05). The silicosis group had significantly higher expression of cathepsin G compared with the tuberculosis and lung cancer groups (P < 0.05), and the tuberculosis group and lung cancer group showed no significant difference in the concentration of cathepsin G (P > 0.05). The tuberculosis group had a significantly higher concentration of granzyme A than the silicosis and lung cancer groups (P < 0.05), and the silicosis group and lung cancer group had similar protein concentration trends (P > 0.05). The tuberculosis group and lung cancer group had significantly higher concentration of IFN-β compared with the silicosis group (P < 0.05), and the tuberculosis group and lung cancer group showed no significant difference in IFN-β concentration (P > 0.05).

CONCLUSIONThis study may offer diagnostic markers for the clinical diagnosis of silicosis, tuberculosis, and lung cancer, and could provide a basis for the research, as well as potential molecular targets for the diagnosis and treatment of these diseases.

Biomarkers ; Cathepsin G ; metabolism ; Cytokines ; blood ; Endopeptidases ; blood ; Enzyme-Linked Immunosorbent Assay ; Granzymes ; metabolism ; Humans ; Interferon-beta ; metabolism ; Lung Neoplasms ; enzymology ; Silicosis ; enzymology ; Tuberculosis ; enzymology