Genome-Wide Association Study of Abdominal Fat in Wenshang Barred Chicken Based on the Slaf-Seq Technology

Chicken abdominal fat (AF) is an economically important trait, and many studies have been conducted on genetic selection for AF. However, previous studies have focused on detecting functional chromosome mutations or regions using gene chips. The present study used the specific-locus amplified fragment sequencing (SLAF-seq) technology to perform a genome-wide association study (GWAS) on purebred Wengshang Barred chicken. A total of 1,286,715 single-nucleotide polymorphisms (SNPs) were detected, and 175,211 SNPs were selected as candidate SNPs for genome-wide association analysis using TASSEL general linear models. Two SNPs markers reached genome-wide significance. Of these, rs7943847, rs127627362 were significantly associated with AF at 120 days. These SNPs are close to eight genes (SLC16A6, ARSG, WIPI1, PRKAR1A, FAM20A, ABCA8, ABCA9, CPQ,). These results would enrich the studies on AF and promote the use of Chinese chicken, especially the Wenshang Barred chicken.(AU)

Effect of Plant Essential Oil on Growth Performance and Immune Function During Rearing Period in Laying Hens

The effects of plant essential oil (PEO) on the production performance and immune function of laying hens were evaluated to provide theoretical basis for promoting the natural plant extracts. Eight thousand 1-day-old healthy laying hens were randomly divided into a control group or PEO group, with four replicates per treatment and 1000 hens per replicate. The PEO diet was supplemented with 3g/kg plant extract. Diets were fed for 56 days. The tibia length and keel length were detected on an empty stomach at the end of the trial. Blood samples were collected on the 28th and 56th days to detect the level of C3, C4, IL-1, IL-2, IL-17 and immunoglobulin in the serum. The results showed that, compared with the control, PEO supplementation significantly increased the weight gain rate (WGR) at the 2nd, 4th, 5th and 7th week (p 0.05), and decreased the WGR at the 3rd and 6th week. The tibial length was significantly increased at the 3rd, 5th, 6th and 7th week (p 0.01), and also the keel length at the 5th and 7th week in PEO group. The concentration of IgG and IgM also significantly influenced with PEO supplementation, but there was no significant difference in the complements, C3 and C4, and the IL levels between days 28 and 56. Moreover, no significant difference was observed in body weight and immune organ on day 56. Therefore, we conclude that the addition of PEO could improve the production performance and immune function in laying hens.(AU)

Effect of Plant Essential Oil on Growth Performance and Immune Function During Rearing Period in Laying Hens

The effects of plant essential oil (PEO) on the production performance and immune function of laying hens were evaluated to provide theoretical basis for promoting the natural plant extracts. Eight thousand 1-day-old healthy laying hens were randomly divided into a control group or PEO group, with four replicates per treatment and 1000 hens per replicate. The PEO diet was supplemented with 3g/kg plant extract. Diets were fed for 56 days. The tibia length and keel length were detected on an empty stomach at the end of the trial. Blood samples were collected on the 28th and 56th days to detect the level of C3, C4, IL-1, IL-2, IL-17 and immunoglobulin in the serum. The results showed that, compared with the control, PEO supplementation significantly increased the weight gain rate (WGR) at the 2nd, 4th, 5th and 7th week (p 0.05), and decreased the WGR at the 3rd and 6th week. The tibial length was significantly increased at the 3rd, 5th, 6th and 7th week (p 0.01), and also the keel length at the 5th and 7th week in PEO group. The concentration of IgG and IgM also significantly influenced with PEO supplementation, but there was no significant difference in the complements, C3 and C4, and the IL levels between days 28 and 56. Moreover, no significant difference was observed in body weight and immune organ on day 56. Therefore, we conclude that the addition of PEO could improve the production performance and immune function in laying hens.

Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing.

Short rib-polydactyly syndrome type III (SRPS3) is a perinatal lethal skeletal disorder with polydactyly and multisystem organ abnormalities. While ultrasound of the fetus can detect skeletal abnormalities characteristic of SRPS3, the syndrome is often difficult to diagnose before birth. As SRPS3 is an autosomal recessive disorder, identification of the gene mutations involved could lead to the development of prenatal genetic testing as an accurate method of diagnosis. In this study, we describe genetic screening approaches to identify potential abnormalities associated with SRPS3. Karyotype analysis, array comparative genomic hybridization (aCGH), and next-generation panel sequencing were each performed on a fetus showing signs of the disorder, as well as on the mother and father. Karyotype and aCGH results revealed no abnormalities. However, next-generation panel sequencing identified novel mutations in the DYNC2H1 gene. The fetus was compound heterozygous for both a missense mutation c.8313A > T and a frameshift mutation c.10711_10714delTTTA in the DYNC2H1 gene, which were inherited from the mother and father, respectively. These variants were further confirmed using Sanger sequencing and have not been previously reported. Our study indicates the utility of using next-generation panel sequencing in screening for novel disease-associated mutations.

A rare case of trisomy 11q23.3-11q25 and trisomy 22q11.1-22q11.21.

Partial duplication of the long arm of chromosome 11 and the partial trisomy of 22q are uncommon karyotypic abnormalities. Here, we report the case of a 6-year-old girl who showed partial trisomy of 11q and 22q, as a result of a maternal balanced reciprocal translocation (11;22), and exhibited dysmorphic features, severe intellectual disability, brain malformations, and speech delay related to this unique chromosomal abnormality. Array comparative genomic hybridization (array CGH) revealed a gain in copy number on the long arm of chromosome 11, spanning at least 18.22 Mb. Additionally, there was a gain in copy number on the long arm of chromosome 22, spanning at least 3.46 Mb. FISH analysis using a chromosome 11 short arm telomere probe (11p14.2), a chromosome 11 long arm telomere probe (11q24.3), and a chromosome 22 long arm telomere probe (22q13.33) confirmed the origin of the marker chromosome. It has been confirmed by the State Key Laboratory of Medical Genetics of China that this is the first reported instance of the karyotype 47,XX, +der(22)t(11;22)(q23.3;q11.1)mat in the world. Our study reports an additional case that can be used to further characterize and delineate the clinical ramifications of partial trisomy of 11q and 22q.

Karyotype analysis and ribosomal gene localization of spotted knifejaw Oplegnathus punctatus.

The spotted knifejaw, Oplegnathus punctatus, is an important aquaculture fish species in China. To better understand the chromosomal microstructure and the karyotypic origin of this species, cytogenetic analysis was performed using Giemsa staining to identify metaphase chromosomes, C-banding to detect C-positive heterochromatin, silver staining to identify the nucleolus organizer regions (Ag-NORs), and fluorescence in situ hybridization (FISH) for physical mapping of the major (18S rDNA) and minor (5S rDNA) ribosomal genes. The species showed a karyotype of 2n = 48 for females, composed of 2 submetacentric and 46 telocentric chromosomes, with a fundamental number (FN) = 50, while the karyotype of males was 2n = 47, composed of 1 exclusive large metacentric, 2 submetacentric, and 44 telocentric chromosomes, with FN = 50. These karyotype results suggest that O. punctatus might have an X1X1X2X2/X1X2Y multiple sex chromosome system. C-positive heterochromatin was distributed in the centromeres of all chromosomal pairs and in the terminal portions of some chromosomes. A single pair of Ag-positive NORs was found to be localized at the terminal regions of the short arms of the subtelocentric chromosome pair, which was supported by FISH of 18S rDNA. After FISH, 5S rDNA were located on the interstitial regions of the smallest telocentric chromosome pair. This study was the first to identify the karyotype of this species and will facilitate further research on karyotype evolution in the order Perciformes.

IL-17A and IL-17F polymorphisms and gastric cancer risk: a meta-analysis.

We conducted a meta-analysis of eligible studies to estimate the association between gastric cancer risk and rs2275913G>A IL-17A and rs763780T>C IL-17F polymorphisms. We searched the relevant studies in both Chinese and English through PubMed, the Web of Science, the Cochrane Library, and EMBASE up to January 1, 2014, including 3939 cases and 5407 controls. Seven eligible case-control studies were selected, including seven studies on rs2275913G>A IL-17A and four studies on rs763780T>C IL-17F. The rs2275913 AG [odds ratio (OR) = 1.50, 95% confidence interval (95%CI) = 1.04-2.15] and GG (OR = 1.40, 95%CI = 1.00-1.96) genotypes were significantly associated with increased risk of gastric cancer compared with the AA genotype. The rs763780 TC (OR = 1.47, 95%CI = 1.32-1.64) and TT (OR = 1.49, 95%CI = 1.11-1.99) gen-otypes can influence gastric cancer risk. Subgroup analysis showed that rs2275913 GG (OR = 1.35, 95%CI = 1.05-1.73) and rs763780 TC (OR= 1.44, 95%CI = 1.20-1.75) genotypes were not significantly associated with increased risk of gastric cancer in Japanese populations. Our meta-analysis is the first to indicate that the rs2275913G>A and rs763780T>C polymor-phisms are risk factors for gastric cancer development.

Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report.

Birth defects are structural and/or functional malformations present at birth that cause physical or mental disability and are important public health problems. Our study was aimed at genetic analysis and prenatal diagnosis of congenital anomalies to understand the cause of certain birth defects. Karyotypes and array-comparative genomic hybridization (aCGH) were performed on a pregnant woman, surrounding amniotic fluid, and her husband. A short-stature panel genetic test was conducted in accordance with the phenotype of the fetus. Following examination, it was determined that the karyotype and aCGH results were normal. The RECQL4 gene in the fetus showed compound heterozygous mutations, and each parent was found to be a carrier of one of the mutations. The two heterozygous mutations (c.2059-1G>C and c.2141_2142delAG) were detected in the RECQL4 (NM_004260) gene in the fetus; therefore, the fetus was predicted to have Baller-Gerold syndrome. These two mutations have not previously been reported. In addition, these results identified a 25% risk of the parents having a sec-ond conceptus with this congenital disease. Therefore, prenatal genetic diagnosis was highly recommended for future pregnancies.

Clinical study on gastric cancer susceptibility genes IL-10-1082 and TNF-α.

TNF 308 gene polymorphism and IL-10 polymorphism provided evidence in diagnosing some types of cancer. We aimed to explore the relation of gene polymorphism with gastric cancer. A total of 360 cases of gastric cancer patients were included in the study. The genotypes GG, GA, and AA of the interleukin-10-1082 gene (IL-10-1082) and the tumor necrosis factor-alpha gene (TNF-α) 308 polymorphism were examined by chromogenic detection. Three hundred healthy individuals' gene as control group were also examined. The GA 308 genotype of TNF-α differed significantly between the control group and the gastric cancer group (X(2) = 9.32, P < 0.05). Genotype frequencies of A/A (17.2%), A/G (26.2%), and G/G (9.1%) of the IL-10-1082 gene polymorphism in the gastric cancer group differed significantly compared to those of the control group (X(2) = 20.32, P < 0.05). The IL-10-1082 gene and the GA 308 genotype of the TNF-α gene were found to be susceptibility genes for gastric cancer.

Recombinant streptokinase suppositories in the treatment of acute haemorrhoidal disease. Multicentre randomized double-blind placebo-controlled trial (THERESA-2).

AIM: A four-arm multicentre randomized double-blind placebo-controlled trial was undertaken to assess the effect and safety of suppositories containing recombinant streptokinase (rSK) at two dose levels (100,000 IU and 200,000 IU) with sodium salicylate (SS) compared with placebo and SS for the treatment of acute haemorrhoidal disease. METHOD: Patients with acute symptoms of haemorrhoids were randomized to four treatment groups: (I) placebo, (II) SS, (III) SS + rSK 100,000 IU and (IV) SS + rSK 200,000 IU per suppository. Inpatient treatment was by four suppositories given every 6 h to discharge at 24 h. Evaluations were made at the time of discharge (24 h) and at 3, 5 and 20 days later. The main end-point was the degree of relief of pain, oedema and reduction in the size of the lesion by 90% on day 5. Adverse events and the occurrence of anti-SK antibodies were also determined. RESULTS: Eighty patients were included. Respective response rates in the four groups were 16%, 30%, 25% and 52%. In the last group there was a significant difference (36.8%) compared with control (95% CI 7.0-58.4%). The time to response was significantly shorter (median 5 days) in the 200,000 IU rSK group with respect to the others. There were no adverse events attributable to the treatment. No increase in anti-SK antibodies was detected 20 days after treatment. CONCLUSION: Suppositories with 200,000 IU rSK showed a significant improvement in symptoms of acute haemorrhoids, with an adequate safety profile.

Comparisons of 5-aminolevulinic acid photodynamic therapy and after-loading radiotherapy in vivo in cervical cancer.

OBJECTIVE: To compare the differences between 5-aminolevulinic acid photodynamic therapy (5-ALA-PDT) with traditional after-loading radiotherapy in aspects of efficacies and side effects. MATERIALS AND METHODS: MTT assay was adopted to detect the inhibitive effects of 5-ALA-PDT on Hela cells proliferation. Flow cytometry was used to analyze cell apoptosis. After establishment of human cervical cancer xenograft model, the comparisons between 5-ALA-PDT with radiotherapy were performed with respect to treatment efficacies (survival rate, body weight, and tumor volume) and side effects (appearance and behavior, ovarian endocrine functions, and skin lesion around the tumor). RESULTS: 5-Aminolevulinic acid photodynamic therapy exerted killing effects on cervical cancer cells. Morphological changes and flow cytometric analyses indicated apoptosis to be one of the mechanisms for tumor growth suppression. Both proliferation inhibition and cell apoptosis showed dependency on photosensitizer concentration and irradiation intensity. Repeated photodynamic therapy presented stronger inhibitive effects on tumor growth compared to after-loading radiotherapy, while producing milder impairment of ovarian endocrine functions and skin lesions around the tumors. CONCLUSIONS: 5-Aminolevulinic acid photodynamic therapy has great potential to be an alternative treatment modality for cervical cancer.

Management and outcome of ovarian malignancy complicating pregnancy: an analysis of 41 cases and review of the literature.

OBJECTIVE: The aims of this study are to summarize our experience of managing ovarian malignancy complicating pregnancy, to discuss the maternal and fetal outcomes, and to review the literature concerned. METHODS: Forty-one patients with ovarian malignancies complicating pregnancy at Peking Union Medical College Hospital between 1990 and 2012 were retrospectively reviewed. RESULTS: Of the 41 patients, malignancies included epithelial ovarian cancers (13/41, 31.7 %), epithelial borderline ovarian tumors (12/41, 29.3 %), ovarian malignant germ cell tumors (10/41, 24.4 %), sexcord stromal tumors (3/41, 7.3 %), metastatic ovarian tumors (2/41, 4.9 %), and primary ovarian choriocarcinoma (1/41, 2.4 %). The median overall survival was 30 months (range 3-165), with an overall mortality rate of 24.4 %. The pregnancy outcomes included termination in the first trimester (8/41, 19.5 %), full-term vaginal delivery (7/41, 17.0 %), full-term cesarean section (17/41, 41.5 %), and therapeutic cesarean section for premature birth (9/41, 22.0 %). One preterm newborn died, and the remaining 32 survived in healthy status. All patients underwent surgery, and those who deliberately delayed radical surgery had gloomy prognosis. Two patients received chemotherapy during pregnancy, and 24 patients started chemotherapy after pregnancy termination. CONCLUSIONS: Management priority should be given to the malignancy of ovarian tumors at any stage of pregnancy. Surgical intervention is the main treatment modality, and delaying of radical surgery is not recommended for patients with suspicion of high malignancy. Early diagnosis and appropriate treatment could offer satisfactory prognosis.

Cardiomyocyte death: mechanisms and translational implications.

Cardiovascular disease (CVD) is the leading cause of morbidity and mortality worldwide. Although treatments have improved, development of novel therapies for patients with CVD remains a major research goal. Apoptosis, necrosis, and autophagy occur in cardiac myocytes, and both gradual and acute cell death are hallmarks of cardiac pathology, including heart failure, myocardial infarction, and ischemia/reperfusion. Pharmacological and genetic inhibition of autophagy, apoptosis, or necrosis diminishes infarct size and improves cardiac function in these disorders. Here, we review recent progress in the fields of autophagy, apoptosis, and necrosis. In addition, we highlight the involvement of these mechanisms in cardiac pathology and discuss potential translational implications.