italic>Rehmannia glutinosa belongs to the Scrophulariaceae family with important medicinal value. In order to effectively explore the transcriptome information of R. glutinosa and identify the genes encoding enzymes involved in phenylethanol glycoside (PhGs) biosynthesis, the leaves, stems and tuberous roots of R. glutinosa were used for transcriptome sequencing using Pacific Biosiences RS II platform. A total of 27 773 transcripts were generated with an average length of 2 380 bp, and 27 236 coding sequences (CDS) were predicted. Using BLAST software, non-redundant transcript sequences were annotated with NR, NT, GO, COG, KEGG, SwissProt and Interpro databases and a total of 27 399 annotated genes were obtained. Among them, the number of genes related to Sesamum indicum in the NR database was the highest (81.44%), which is consistent with their evolutionary relationship. Enzymes likely involved in the biosynthesis of isoacteoside, echinacoside, cistanosides A, cistanosides F, 2′-acetylacteoside and leonoside F were identified, and 143 genes were identified in R. glutinosa full-length transcriptome. The expression levels of 19 genes correlated with acteoside content in twelve tissues of R. glutinosa, and most showed higher expression levels in leaf tissues and floral organs. This study provides more reliable transcriptome data for screening R. glutinosa for functional genes and provides a foundation for the study of the molecular mechanisms of PhGs biosynthesis.

OBJECTIVE: To investigate the gene mutation in adult patients with B-ALL and its influence on clinical prognosis. METHODS: Clinical data of 226 adult patients with B-ALL were retrospectively analyzed in the period from August 2011 to February 2018. The incidence of gene mutation in all patients were detected, and the influence of mutation gene on clinical prognosis were estimated. Cox regression model were used to evaluate the independent prognostic factors. RESULTS: 208 (92.04%) of 226 patients showed gene mutations, and the median mutation number was 2 (0-8). Among them, 54 cases (23.89%) showed 14 or more mutations. The top five mutation types of all patients were SF1, FAT1, MPL, PTPNII and N-RAS respectively. The median OS and median RFS times of 226 patients were 27.0 (5.5-84.0) months and 22.5 (0-81.0) months respectively. The OS and RFS times of Ph CONCLUSION Gene mutations are common in all adult B-ALL patients, and the clinical prognosis of patients with JAK and epigenetics-related signaling pathway mutations is worsen, while the WBC level closely relates to the clinical prognosis of the patients.
Adult ; Humans ; Mutation ; Patients ; Prognosis ; Proportional Hazards Models ; Retrospective Studies

Parkinson disease (PD) is the second-most common neurodegenerative disorder. Its main pathological mechanism is the selective degeneration and deletion of dopaminergic neurons in the dense part of the substantia nigra and the damage of dopaminergic neurons caused by the abnormal deposition of a Lewy body, leading to a decreased dopamine level. Positron emission computed tomography (PET)/single photon emission computed tomography (SPECT) is a molecular imaging technology that can directly or indirectly reflect changes in molecular levels by using a specific tracer. With the research and development on the tracers of related enzymes for labeling dopamine transporter and dopamine receptor and for being involved in dopamine formation, this imaging technology has been applied to all aspects of PD research. It not only contributes to clinical work but also provides an important theoretical basis for exploring the pathological mechanism of PD at a molecular level. Therefore, this review discusses the application value of PET/SPECT in PD in terms of early diagnosis, disease severity evaluation, clinical manifestations, differential diagnosis, and pathological mechanism.

BACKGROUNDInterleukin (IL)-37, also called IL1F7, is a natural inhibitor of inflammatory and immune responses. It is involved in the pathogenesis of rheumatoid arthritis (RA). This study aimed to investigate the role of IL1F7 gene polymorphism in RA susceptibility in a large cohort of patients.

METHODSFive selected single-nucleotide polymorphisms in IL1F7 genes (rs2723186, rs3811046, rs4241122, rs4364030, and rs4392270) were genotyped by TaqMan Allelic Discrimination in Northern Chinese Han population. The allele and the genotype were compared between patients with RA and healthy controls. Association analyses were performed on the entire data set and on different RA subsets based on the status of the anti-cyclic citrullinated peptide antibody and the rheumatoid factor by logistic regression, adjusting for age and gender.

RESULTSTrend associations were detected between rs2723186, rs4241122, rs4392270, and RA in Stage I (160 patients with RA; 252 healthy controls). Further validation in Stage II comprised 730 unrelated patients with RA (mean age: 54.9 ± 12.6 years; 81.6% females) and 778 unrelated healthy individuals (mean age: 53.5 ± 15.7 years; 79.5% females). No significant differences in the distributions of alleles and genotypes were observed between the case and control groups in both the entire set and the different RA subsets. Disease activity and age of RA onset were also not associated with genotype distributions.

CONCLUSIONIL1F7 gene polymorphism does not significantly influence RA susceptibility in the Northern Chinese Han population.

BACKGROUND: Interleukin (IL)-37, also called IL1F7, is a natural inhibitor of inflammatory and immune responses. It is involved in the pathogenesis of rheumatoid arthritis (RA). This study aimed to investigate the role of IL1F7 gene polymorphism in RA susceptibility in a large cohort of patients. METHODS: Five selected single-nucleotide polymorphisms in IL1F7 genes (rs2723186, rs3811046, rs4241122, rs4364030, and rs4392270) were genotyped by TaqMan Allelic Discrimination in Northern Chinese Han population. The allele and the genotype were compared between patients with RA and healthy controls. Association analyses were performed on the entire data set and on different RA subsets based on the status of the anti-cyclic citrullinated peptide antibody and the rheumatoid factor by logistic regression, adjusting for age and gender. RESULTS: Trend associations were detected between rs2723186, rs4241122, rs4392270, and RA in Stage I (160 patients with RA; 252 healthy controls). Further validation in Stage II comprised 730 unrelated patients with RA (mean age: 54.9 ± 12.6 years; 81.6% females) and 778 unrelated healthy individuals (mean age: 53.5 ± 15.7 years; 79.5% females). No significant differences in the distributions of alleles and genotypes were observed between the case and control groups in both the entire set and the different RA subsets. Disease activity and age of RA onset were also not associated with genotype distributions. CONCLUSION IL1F7 gene polymorphism does not significantly influence RA susceptibility in the Northern Chinese Han population.
Adult ; Aged ; Arthritis, Rheumatoid ; genetics ; Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; China ; ethnology ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Interleukin-1 ; genetics ; Male ; Middle Aged ; Polymorphism, Single Nucleotide

This study was to investigate the changes of autonomic nerve function and hemodynamics in patients with vasovagal syncope (VVS) during head-up tilt-table testing (HUT).HUT was performed in 68 patients with unexplained syncope and 18 healthy subjects served as control group.According to whether bradycardia,hypotension or both took place during the onset of syncope,the patients were divided during the test into three subgroups:vasodepressor syncope (VD),cardioinhibitory syncope (CI) and mixed syncope (MX) subgroups.Heart rate,blood pressure,heart rate variability (HRV),and deceleration capacity (DC) were continuously analyzed during HUT.For all the subjects with positive responses,the normalized low frequency (LFn) and the LF/HF ratio markedly decreased whereas normalized high frequency (HFn) increased when syncope occurred.Syncopal period also caused more significant increase in the power of the DC in positive groups.These changes were more exaggerated compared to controls.All the patients were indicative of a sympathetic surge in the presence of withdrawal vagal activity before syncope and a sympathetic inhibition with a vagal predominance at the syncopal stage by the frequency-domain analysis of HRV.With the measurements ofDC,a decreased vagal tone before syncope stage and a vagal activation at the syncopal stage were observed.The vagal tone was higher in subjects showing cardioinhibitory responses at the syncopal stage.DC may provide an alternative method to understand the autonomic profile of VVS patients.

Objective To study the role and mechanism of orexin A in cell viability of Alzheimer's disease (AD) cell model PC12. Methods PC12 cells were treated with 0, 10, 20, 30, 40 and 50 μmol/L Aβ25-35 for 24 h, and then, cell viability was measured by MTT to confirm which concentration was the suitable one to establish the AD cell models. (1) AD cell models were treated with 0, 0.01, 0.1, 1 and 2μmol/L orexin A for 24 h, and then, 30μmol/L Aβ25-35 was added for 24 h; MTT assay was used to determine the cell viability to conform the suitable concentration of orexin A. (2) Inverted phase contrast microscope was employed to observe the morphology changes of PC12 cells from the control group, 30 μmol/L Aβ25-35 treatment group, and 0.01 μmol/L orexin A+30 μmol/L Aβ25-35 treatment group. (3) The PC12 cells were given pretreatment of orexin A receptor inhibitor SB408124 for 2 h, and cell viability was detected. Results (1) Aβ25-35 at concentration 30μmol/L was the suitable one to establish the AD cell models;after being pretreated with different concentrations of orexin A, the cell viability showed significant differences (F=27.120, P=0.000), and 0.01μmol/L orexin A was the suitable concentration. (2) Some of the cells from the 30μmol/L Aβ25-35 treatment group had breaking-off of protuberance and damaged soma;cells from 0.01μmol/L orexin A+30μmol/L Aβ25-35 treatment group had breaking-off of protuberance, and the degree of damaged soma was eased as compared with that in the 30μmol/L Aβ25-35 treatment group. (3) If the cell viability of the control group was 100％, cell viability of orexin A receptor inhibitor group was 109.10％±0.36％, which was significantly decreased as compared with that in the 0.01 μmol/L orexin A pretreated group (117.24％±2.72％, P<0.05). Conclusion Orexin A can improve the cell viability via combination of its specific receptor; orexin A and its specific receptor may be new targets for prevention and cure of AD.

BACKGROUNDGenetic association studies on populations of European origin have identified the DCDC2 gene as a susceptibility locus for developmental dyslexia. Here, we sought to investigate the association of DCDC2 polymorphisms with developmental dyslexia in children of Han Chinese origin.

METHODSWe undertook a case-control genetic association study on 76 dyslexic children and 79 non-dyslexic matched controls. We isolated DNA from oral mucosal cell samples and genotyped two DCDC2 coding-sequence single nucleotide polymorphisms, rs2274305 and rs6456593, in each sample using SNaPshot single nucleotide extension. We compared the allele and genotype frequencies between the groups using the χ(2) test and analyzed the relationship between dyslexia and the polymorphism at both loci using unconditional logistic regression. We also predicted haplotypes and compared their frequencies between the two groups.

RESULTSThe differences in the genotype distribution and the allelic genes of the two single nucleotide luci of the DCDC2 gene, rs2274305 and rs6456593, between the two dyslexic and non-dyslexic groups were statistically meaningless (P > 0.05). The differences in the haplotype distributions of the DCDC2 gene between the dyslexic and normal group were statistically meaningless (P > 0.05).

CONCLUSIONThe DCDC2 gene may not be a susceptibility factor for developmental dyslexia among the Han Chinese. However, methodological issues may have prevented the detection of positive associations.

Asian Continental Ancestry Group ; Child ; Dyslexia ; genetics ; Female ; Genetic Predisposition to Disease ; genetics ; Genotype ; Haplotypes ; genetics ; Humans ; Male ; Microtubule-Associated Proteins ; genetics ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; genetics

BACKGROUNDPulmonary mucosa-associated lymphoid tissue (MALT) lymphoma is the most frequent type of non-Hodgkin's lymphoma (NHL) that primarily involves the lungs. It represents a rare entity accounting for less than 1% of all NHLs and the clinical features have yet to be clearly elucidated.

METHODSThe clinicopathological features and radiological data of 23 patients with pulmonary MALT lymphoma confirmed by biopsy in Peking Union Medical College Hospital from January 2001 to December 2010 were retrospectively analyzed.

RESULTSAt diagnosis, there were 15 women and 8 men. The median age was 55.1 years (range, 37 - 73 years). One patient had a history of primary Sjoren's syndrome, another patient had a history of systemic lupus erythematosus (SLE) and secondary Sjoren's syndrome. One patient had a history of previous hematological malignancy (lymphomatoid papulosis in complete remission). In addition, one patient had simultaneous gastric and pulmonary involvement and one patient had simultaneous parotid gland and pulmonary involvement. The other 21 patients had disease localized within the lungs at the initial diagnosis. Among them, 10 patients were asymptomatic while two had non-specific pulmonary symptoms. There were six patients with fever, four patients had low grade fever and two patients had moderate-high fever. The most common manifestations were cough (n = 10), expectoration (n = 8), exertional dyspnea (n = 8), fatigue (n = 7), body weight loss (n = 6) and crackles (n = 6). Blood tests showed low to moderate anemia in six cases, elevated erythrocyte semimentation rate (ESR) in 10 cases and only one patient had elevated lactate dehydrogenase (LDH). High resolution computed tomography (HRCT) of the chest revealed bilateral disease in 13 patients, air space consolidation with or without air bronchogram in 15 patients, lung nodules in 15 patients, patchy opacities in eight patients, lung mass in three patients and pleural effusion in five patients. Flexible fiberoptic bronchoscopy showed multiple nodules in five patients and almost normal morphology in 18 patients. Pathological diagnosis was obtained by bronchial biopsies in three cases, by CT-guided percutaneous lung biopsies in 11 cases and by surgical biopsies in nine cases. Of the 23 patients, one remained untreated, while 22 received various combinations of treatment (surgery alone in three patients, surgery plus chemotherapy in six patients, and chemotherapy alone in 13 patients). Twenty-one patients remained alive during the median follow-up of 23 (0.25 - 84) months, while one patient died from unknown causes, one patient died from lung infection.

CONCLUSIONSPulmonary MALT lymphoma tends to occur in old-aged females and to be limited to the lungs on the initial diagnosis and LDH's level was normal in most patients. Lung nodules, patchy opacities and air space consolidation were the main HRCT manifestations. Association with immunohistochemical studies, CT-guided percutaneous lung biopsies and surgical biopsies were helpful to the diagnosis. Prognosis for this lymphoma tends to be indolent.

Adult ; Aged ; Asian Continental Ancestry Group ; Female ; Humans ; Immunophenotyping ; Lymphoma, B-Cell, Marginal Zone ; diagnostic imaging ; pathology ; Male ; Middle Aged ; Radiography