KLF7 Affects Development of Broiler Adipose Tissue by Inhibiting Hypoxia￣Inducible Factor 1 Alpha Transcription / 中国生物化学与分子生物学报

Krüppel-like factor 7 (KLF7) is a negative regulator of adipogenesis, whereas hypoxia-inducible factor 1 (HIF1) promotes anoxic-induced adipose tissue development in mammals. Our previous ChIP-seq analysis showed that one of the KLF7 binding peaks was present upstream of hypoxia-inducible factor 1 alpha (HIF1α), indicating that KLF7 may regulate HIF1α transcription. For this purpose, ChIP-PCR was used to verify ChIP-seq results, which showed that KLF7 directly bound to the HIF1α upstream region. Dual luciferase reporter and qRT-PCR results showed that KLF7 overexpression significantly decreased the luciferase reporter activity of HIF1α (- 4 432/- 4 182) (P < 0. 01) and inhibited HIF1α expression. After the deletion of KLF7 binding motif “TGCGCAGCAA” (- 4 300/-4 290) predicted by bioinformatics, the luciferase reporter activity of HIF1α (-4 432/-4 182) was significantly enhanced compared with wild-type plasmid (P<0. 01). Furthermore, Northeast Agricultural University broiler lines divergently selected for abdominal fat content (NEAUHLF) at the age of 1-7 weeks from the 19

Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutations in two neonates suspected for Cornelia de Lange syndrome (CdLS).</p><p><b>METHODS</b>Peripheral blood samples from the neonates and their parents were collected and analyzed for CdLS-related genes using targeted sequence capture and next-generation sequencing. Suspected mutations were confirmed by direct Sanger sequencing.</p><p><b>RESULTS</b>The neonates were found to respectively carry mutations c.7219C to T and p.D2339Lfs*4 of the NIPBL gene, among which the p.D2339Lfs*4 mutation has not been reported previously. No pathogenic mutation was found in other CdLS-related genes including NIPBL, SMC1A, SMC3, RAD21 and HDAC8.</p><p><b>CONCLUSION</b>The c.7219C to T and p.D2339Lfs*4 mutations of the NIPBL gene probably account for the disease in both patients.</p>

Detection of a patient with ring chromosome 15 by low-coverage massively parallel copy number variation sequencing / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the genetic cause for a child with developmental delay.</p><p><b>METHODS</b>The karotypes of the child and her parents were analyzed with G-banding analysis. Their genome DNA was analyzed with low-coverage massively parallel copy number variation sequencing (CNV-seq) and verified by single nucleotide polymorphism array (SNP-array).</p><p><b>RESULTS</b>The karyotype of the child was ascertained as 46,XX,r(15)(p13q26.3), while both parents showed a normal karyotype. CNV-seq and SNP-array have identified a de novo 15q26.2-q26.3 deletion in the child with a size of approximately 3.60 Mb.</p><p><b>CONCLUSION</b>The abnormal phenotype of the patient carrying the ring chromosome 15 may be attributed to the presence of the 15q26.2-q26.3 microdeletion. The deletion and haploinsufficiency of the IGF1R gene probably underlie the main clinical features of the patient.</p>

Genetic analysis of a mental retardation patient with a rare karyotype involving complex rearrangements of five chromosomes / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the genetic cause of a female patient with severe mental retardation and a history of adverse pregnancy.</p><p><b>METHODS</b>The patient was subjected to G-banded chromosome analysis and single nucleotide polymorphism array (SNP-array) assaying. The correlation between genomic variations and the phenotype was explored.</p><p><b>RESULTS</b>The patient was found to have a complex chromosome rearrangement involving 5 chromosomes. The karyotypes of her parents were both normal. SNP-array assay has identified a 1.6 Mb microdeletion at chromosome 15q21.3 which involved 15 RefSeq genes and a 0.5 Mb microdeletion at 5q21.1 which involved one RefSeq gene.</p><p><b>CONCLUSION</b>The microdeletions, which involved TCF12, ADMA10 and AQP9 genes, probably underlie the mental retardation shown by the patient.</p>

Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 18p deletion / 中华医学遗传学杂志

OBJECTIVE To analyze a neonate with multiple malformations and to correlate its genotype with phenotype. METHODS The karotypes of the child and her parents were subjected to G-banding chromosome analysis, and array comparative genomic hybridization (array-CGH) was used for fine mapping of the aberrant region. RESULTS The karyotype of the child was ascertained as 46,XX,del(18)(p11.2). Array CGH has identified a 9.8 Mb deletion at 18p11.32-p11.22. The patient has presented features such as holoprosencephaly, choanal atresia, heart defect, and craniofacial dysmorphisms. CONCLUSION The de novo 18p deletion probably underlies the main clinical manifestations of the child.

Preparation and release mechanism of gestodene reservoir-type intravaginal rings / 药学学报

This study taking gestodene (GEST) as a model, investigated the factors affecting reservoir-type intravaginal ring (IVR)'s drug release. This paper reported a gestodene intravaginal ring of reservoir design, comprising a gestodene silicone elastomer core encased in a non-medicated silicone sheath, separately manufactured by reaction injection moulding at 80 degrees C and heating vulcanization at 130 degrees C is reported. The test investigated the factors affecting drug release through a single variable method, taking the drug release rates of 21 days as standards. When changing the thickness of the controlling sheath outside, the ratio of the first day of drug release and mean daily release (MDR), named the relatively burst effect, is closing to 1 with the thickness of controlling sheath increasing, while the 1.25 mm sheath corresponding to 1.04 controlled the burst release effectively; a positive correlation (r = 0.992 2) existed between the average drug release (Q/t) and drug loading (A) within a certain range. The C6-165 controlling sheath with high solubility of GEST is easier to achieve controlled release of the drug; GEST crystalline power is more effective to implement controlled release of drugs among difficent states of the drug. A 1/4 fractional segment core gives a relatively burst effect of 1.76, while the 1/1 and 1/2 are 1.93 and 1.87 separately, at the same drug loading, concluding that use of a fractional segment core would allow development of a suitable GEST reservoir IVR. In summary, GEST reservoir-type IVR could be adjusted by the thickness of controlling sheath, the loading of drug, the material properties of controlling sheath, the dispersion state of drug, the additive composition and structure of intravaginal ring, to control the drug release behavior and achieve the desired drug release rate.

Chemical constituents from seeds of Vigna umbellata / 中国中药杂志

Phytochemical investigation was carried out on the seeds of Vigna umbellata. The 70% ethanol extract of the seeds of V. umbellata was subjected to silica gel, Sephadex LH-20, ODS column chromatographies and preparative HPLC. The structures of the isolated compounds were elucidated on the basis of NMR and ESI-MS spectroscopic data Eight compounds were obtained and identified as carboxyatractyligenin (1), 2beta-O-beta-D-glucopyranosyl-15alpha-hydroxy-kaur-16-ene-18,19-dicarboxylic acid (2), 2beta-O-(beta-D-glucopyranosyl) atractyligenin (3), 3R-O-[beta-L-arabinopyranosyl-(1-6) -beta-D-glucopyranosyl] oct-1-ene-3-ol (4), (6S, 7E, 9R) -roseoside (5), liriodendrin (6), resveratrol (7) and maltol (8). Compounds 1-7 were isolated from Vigna genus for the first time, and compound 8 was isolated from V. umbellata for the first time.

Correlation between single nucleotide polymorphisms of PRRC2A and susceptibility to sporadic breast cancer among Han women in Jiangsu Province / 中国肿瘤临床

Objective:To investigate the correlation of single nucleotide polymorphisms (SNPs) in the PRRC2A gene with the susceptibility to sporadic breast cancer among Han women in Jiangsu Province, China. Methods:Using the genotyping technique of matrix-assisted laser desorption-ionization time-of-flight mass spectrometry, we analyzed the polymorphisms of an SNP (chr6_31697494) in gene PRRC2A in 214 breast cancer patients and 212 healthy controls admitted to the Huaian Maternal and Child Health Care Hospital. The genotype frequencies were analyzed using a Chi-square test between the case and control groups. Unconditional lo-gistic regression analysis for calculating the odds ratio (OR) and 95%confidence interval (95%CI) was conducted by analyzing the cor-relation between the susceptibility to breast cancer and genotypes. Additional analysis was then performed based on the immunohisto-chemical results of the estrogen receptor (ER) and progesterone receptor (PR). Results:The genotype frequencies for chr6_31697494 between the case and control groups were not significantly different (P>0.05). Further analysis indicated that the genotype frequencies of the site were significantly different in the ER (+/-) groups or the PR (+/-) groups (P<0.05). Heterozygous genotype (chr6_31697494, CT) was related to the breast cancers with ER (+) and PR (+) (OR=0.40, 95%CI:0.33-0.47;OR=0.49, 95%CI:0.43-0.57, respectively). Conclusion:No significant difference was found between the polymorphism of chr6_31697494 in the PRRC2A gene and the suscepti-bility to breast cancer among Han women in Jiangsu Province. The heterozygous genotypes were associated with breast cancer tissues with ER (+) and PR (+).

A novel severe aplastic anemia mouse model induced by IFN-γ plus busulphan / 中华血液学杂志

<p><b>OBJECTIVE</b>To establish a novel severe aplastic anemia (SAA) mouse model by interferon-γ (IFN-γ) plus busulphan.</p><p><b>METHODS</b>Thirty clean-class BALB/c female mice were intraperitoneally injected with IFN-γ and intragastrically administrated with busulphan (group I), meanwhile busulphan alone group (n = 30, group II) and normal control group (n = 30, group III). Multi-parameters were compared among the three groups.</p><p><b>RESULTS</b>In group I at day 10 after treatment, the incidence of SAA was 100% and mortality 20% respectively; the WBC, HGB, PLT, absolute reticulocyte count (Ret) and tibial nucleated cell count (TNCC) were (0.8 ± 0.3) × 10(9)/L, (45 ± 20) g/L, (10 ± 8) × 10(9)/L, (15.2 ± 10.2) × 10(9)/L, (12 ± 7) × 10(6)/tibia, respectively, which were significantly different from the other two groups (all P < 0.05). The bone marrow smears and patho-histological examinations showed marked reductions of marrow cell proliferation, and increases of the percentages of non-hematopoietic cells and cellular adipose. The depression was severe and irreversible. In group II, the blood cells count, TNCC and marrow proliferation recovered gradually with erythroid hyperplasia and hematopoietic dysplasia.</p><p><b>CONCLUSIONS</b>IFN-γ plus busulphan can establish a SAA mouse model in a relatively short period, which is more resemble with human SAA.</p>

Measurement of plasma mast cell carboxypeptidase and chymase levels in children with allergic diseases / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To evaluate the roles of plasma mast cell carboxypeptidase and chymase in the diagnosis of allergic diseases by measuring the contents of both in children.</p><p><b>METHODS</b>A total of 59 children with allergic diseases and 53 healthy children were recruited into the study. Plasma levels of mast cell carboxypeptidase and chymase were measured using ELISA.</p><p><b>RESULTS</b>The plasma levels of mast cell carboxypeptidase and chymase in children with allergic children were 1.089 ± 0.752 ng/mL and 0.905(0.375-2.318) ng/mL, respectively, which were significantly higher than those in healthy children [0.593 ± 0.380 ng/mL and 0.454 (0.097-1.077) ng/mL respectively; P<0.05]. There was a significantly positive correlation between plasma mast cell carboxypeptidase and chymase levels in children with allergic diseases (r=0.684, P<0.01).</p><p><b>CONCLUSIONS</b>Plasma levels of mast cell carboxypeptidase and chymase increase in children with allergic diseases, suggesting that mast cell carboxypeptidase and chymase may serve as the indexes for the diagnosis of allergic diseases.</p>

Clinical trial on standard treatment of acute organophosphorus poisoning / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To explore the norms of treatment of acute organophosphorus pesticide poisoning (AOPP), and observe the curative effect.</p><p><b>METHODS</b>On basis of the pre-research, the norms of treatment of AOPP were summarized, and a multi-center clinical trial was performed in 6 hospitals selected from high incidence of AOPP in Shandong Province.</p><p><b>RESULTS</b>422 patients of AOPP in 6 hospitals in observation period were treated and observed by the norms of treatment. Among them, the proportion of oral poisoning was 97.16%, middle and severe degree were 87.44%. Compared with themselves 2 years ago before standard treatment, the curative effect of the norms of treatment for AOPP was much better than before. The mortality rate of AOPP declined from 9.87% to 1.66% (Chi2 = 27.92, P < 0.01), that was much better than the average therapeutic effect level of all our province in the same period (the mortality rate: 8.92%) (Chi2 = 26.05, P < 0.01). The average amount of atropine [(37.54 +/- 17.76) mg], dropped greatly [(1280.70 +/- 69.22) mg] (U = 439.22, P < 0.01).The usage of atropine by continuous intravenous injection with venous pump was better than ordinary intravenous injection. The mean dosage of pralidoxime chloride increased twice than the previous (U = 19.48, P < 0.01). There was no drug poisoning.</p><p><b>CONCLUSION</b>The standard treatment of AOPP is urgently needed in our country, especially in rural area. By this trial, the satisfactory effect of the norms of treatment for AOPP summarized is observed and it reduces the fatality rate remarkably.</p>

Study of the interactions between diorganotin (IV) complexes of 1,3-dimethyl-4-acetyl-5-pyrazolone and mononucleotides and DNA / 药学学报

<p><b>AIM</b>The interactions between diorganotin (IV) complexes of 1,3-dimethyl-4-acetyl-5-pyrazolone (HL1) and mono-nucleotides together with DNA near physiological condition were investigated.</p><p><b>METHODS</b>The mode of action of the diorganotin (IV) complexes with mononucleotides and DNA under different conditions and different times were investigated by high resolution NMR technology and UV spectra.</p><p><b>RESULTS</b>The interaction of [(L1)2SnEt2] with AMP was shown to result in significant change of chemical shift of H(8), H(2) and 31P of AMP. Hyperchromic effect of DNA could be observed due to the interaction of; [(L1)2SnEt2] with DNA, while interaction of [(L1)2SnMe2] with AMP and DNA could only cause obvious change of chemical shift of 31P and lead to hypochromic effect of DNA.</p><p><b>CONCLUSION</b>The results indicate that [(L1)2SnEt2] can selectively bind to the N1 atom of the base and the phosphate oxygen atom of AMP and may further destroy the helical structure of DNA, while the dimethyltin (IV) compound of 1,3-dimethyl-4-acetyl-5-pyrazolone [(L1)2SnMe2] merely binds to the the phosphate oxygen atom of AMP and causes the contraction of DNA helical structure.</p>