[Clinical, imaging, and pathological characteristics of 35 cases of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome].

Objective: To summarize the clinical, imaging, and pathological characteristics of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS) to improve the diagnosis of this rare disease. Methods: A retrospective case series was conducted to collect the clinical data and results of genetic testing, muscle biopsy, and imaging studies including computed tomography (CT), magnetic resonance imaging (MRI), and magnetic resonance spectroscopy (MRS) of 35 patients with MELAS admitted to the Nanjing Drum Tower Hospital from 2012 to 2021. Descriptive statistical analysis including mean, standard deviation, and frequency percentage were carried out. Results: The average age of onset of the patients was 30.2±2.3 years; the prevalence of family history was 20%. The two main initial symptoms were limb weakness and convulsions. The clinical manifestations of the neuromuscular system were proximal muscle weakness and exercise intolerance. The endocrine system is the most affected outside the neuromuscular system, with diabetes being the most common condition. Among the five patients who underwent brain CT, four showed hypodense lesions and two had calcified lesions. Brain MRI in 26 patients showed that the lesions more often affected the parietal lobe, basal ganglia, temporal lobe, occipital lobe, and frontal lobe than the infratentorial areas. Twelve of these individuals exhibited different levels of brain atrophy. Among the 10 patients who underwent 1H-MRS, nine showed a decrease in N-acetylaspartate (NAA) levels, eight exhibited abnormal lactate elevation (Lac peaks), whereas six had both reduced NAA levels and the presence of Lac peaks. Thirty-one patients underwent genetic testing; among them, 25 were found to have the mt.3243A>G mutation, while the remaining six exhibited rare gene alterations. Muscle biopsies were performed in 21 patients, and 15 showed abnormal mitochondrial proliferation manifested by ragged red fibers and defective oxidative phosphorylation manifested by cytochrome C oxidase (COX) enzyme-deficient muscle fibers. Conclusion: The clinical manifestations of MELAS syndrome are variable and complex, and early atypical symptoms could be missed or misdiagnosed. A detailed clinical history, imaging MRS analysis, muscle biopsy, and genetic testing are necessary to confirm the accurate diagnosis of MELAS.

Experimental Study on Flame Chemical Composition of Coal and Ammonia Gas-Solid Jet in Flat Flame Burner.

Ammonia as a fuel to partially or completely replace fossil fuels is one of the effective ways to reduce carbon dioxide, and the research on ammonia coal cocombustion is of great significance. The combustion characteristics of ammonia are very different from those of pulverized coal, resulting in the ignition and emission characteristics of ammonia and pulverized coal gas flow that is different from traditional pulverized coal flame. In this paper, the effect of pulverized coal concentration in coal and ammonia mixed combustion jet on the ignition distance and gas-phase components at different positions of the jet flame were studied experimentally on the flat flame burner, and the conditions of ignition and ignition stability of coal and ammonia gas-solid fuel were expounded. It was found that the ammonia mixed with pulverized coal changed the temperature field of the flat flame burner and therefore the ignition characteristics of the jet were changed. The ignition delay time at the same jet speed was positively correlated with the pulverized coal concentration, but when the pulverized coal concentration continued to decrease, the influence on the ignition delay time gradually became smaller. The composition of coal ammonia gas-solid fuel changed the heat transfer path and share during combustion, and finally, the flame temperature was negatively correlated with the concentration of pulverized coal. Therefore, the reduction of the pulverized coal concentration was conducive to the stable combustion of coal ammonia mixed fuel. When HAB = 100 mm, the conversion rate of fuel N to NOx per unit mass of coal ammonia mixture increased with the increase of pulverized coal concentration. The NOx production amount first increased and then decreased with the increase of pulverized coal concentration, and the amount of N2O and NO2 decreased rapidly with the increase of HAB. The proportion of NOx in NO exceeded 94%, which was conducive to achieving low nitrogen combustion of coal and ammonia gas-solid fuel. In general, the O2 concentration in the ammonia coal jet flame decreased, the flue gas temperature, and NOx and CO generation increased after mixing ammonia, and the optimal pulverized coal concentration in this experiment was 0.41 kgc/kga (mass ratio of pulverized coal to the sum of N2 and NH3).

[A comparative study on the construction methods of animal models of aortic arch dissection].

Objective: To compare the effectiveness and safety of different methods to construct animal models of aortic arch dissection (AAD), and explore safe and effective methods for constructing AAD animal models. Methods: Twenty-four healthy mongrel dogs were divided into 4 groups by random number table (n=6). Group A: Venous incision needle high pressure water flow impact method; Group B: Venous incision needle non-high pressure water flow impact method; Group C: Transarterial sheath non-high pressure water flow impact method; Group D: Two-way balloon expansion combined with elastase perfusion method. Imaging examinations were performed immediately and 7 days after operation, aortic tissue biopsy and pathological staining were performed 15 days after operation to observe the formation of AAD. The operation time, aortic blood flow block time, model construction success rate, dissection tear length, postoperative survival rate and survival time of four groups of experimental dogs were collected to compare the effectiveness and safety of different construction methods. Results: There were no significant difference of the gender, age and weight between four groups of experimental dogs (all P>0.05). The operation time of four groups of experimental dogs were (111.6±8.0), (168.0±17.4), (164.4±13.9), (202.8±21.5)min, and the difference was statistically significant (F=39.973, P<0.001). The operation time of group A was significantly lower than group B, C and D (all P<0.001). The aortic blood flow block time of four groups of experimental dogs were (5.2±1.8), (19.6±3.8), (20.6±3.9), and (18.6±3.0) min, and the difference was statistically significant (all P<0.001). The aortic blood flow block time of group A was significantly lower than group B, C and D (F=27.598, P<0.001). The four groups of experimental dogs had 5, 5, 4, and 1 model were successfully constructed, respectively, and the difference was statistically significant (P=0.008). The successful rate of model construction in group A was significantly higher than that in group D (P=0.040). The dissection tear length of four groups were (14.4±3.0), (11.3±4.2), (7.0±2.3), (4.7±0.6) cm,and the difference was statistically significant (F=8.103, P=0.003). The dissection tear length of group A was significantly longer than group C, D (all P<0.05). The postoperative survival time were 15.0(10.0, 15.0), 5.0(3.0, 10.0), 3.5(1.5, 4.8), 10.0(2.8, 15.0) days, and the difference was statistically significant (χ2=7.825,P=0.036). The postoperative survival time of group A was significantly higher than group B, C (all P<0.05). There was no significant difference in the survival rate of the four groups (P=1.000). The pathological staining results showed that the elastic fiber at the tearing point of AAD was destroyed, and the elastic fiber on the outer wall of the false cavity was over-stretched, which was consistent with the pathological changes of aortic dissection. Conclusion: Transvenous incision needle high-pressure water flow impact modeling method is easy to operate. The aortic blood flow block time is short, the dissection tear length is wide, and the postoperative survival time is long, can be used as the preferred method of animal AAD model construction.

Apelin-13/APJ system delays intervertebral disc degeneration by activating the PI3K/AKT signaling pathway.

OBJECTIVE: To study the effect of Apelin-13/APJ system on intervertebral disc degeneration and its mechanism. PATIENTS AND METHODS: This study detected the expression of APJ in human intervertebral disc tissue with varying degrees of degeneration. IL-1ß is used to stimulate the degeneration of nucleus pulposus cells. We used recombinant human Apelin-13 and Ala13 to activate and inhibit the APJ receptor, respectively. The inhibitor LY294002 was used to inhibit the PI3K/AKT signaling pathway. We studied the effects of Apelin-13/APJ system on nucleus pulposus cells and its mechanism by Western blot, RT-PCR, and so on. RESULTS: APJ is lowly expressed in the nucleus pulposus of patients with a high degree of degeneration. IL-1ß stimulates the nucleus pulposus cells and reduces the expression of APJ in nucleus pulposus cells. Recombinant human Apelin-13 reduces the degradation of nucleus pulposus extracellular matrix, promotes proliferation, and reduces the levels of apoptosis and inflammation. In addition, the Apelin-13/APJ system increases the expression of PI3K and AKT and activates the PI3K/AKT signaling pathway. CONCLUSIONS: Apelin-13/APJ system activates PI3K/AKT signaling pathway activity, reduces the degradation of nucleus pulposus extracellular matrix, promotes proliferation, and reduces the level of apoptosis and inflammation, thus delaying the degeneration of the intervertebral disc.

[Clinicopathological characteristics, MSI and K-ras gene mutations of double primary malignancies associated with colorectal cancer].

Objective: To investigate the clinicopathological characteristics, MSI and K-ras mutation of double primary malignancies (DPM) associated with colorectal cancer (CRC). Methods: From January 2015 to December 2016, the clinicopathological data of CRC patients treated by surgery in the Affiliated Drum Tower Hospital of Nanjing University Medical School were collected, and the clinical data was analyzed. Multiplex real-time fluorescence quantitative PCR and amplification refractory mutation was performed to identify MSI and K-ras gene mutations. Results: Of all patients with CRC, 5.2% (55/1 066) were DPM. There was no significant difference in the male and female ratio, age, colorectal cancer site, T stage, N stage composition ratio between DPM patients with CRC and patients with single CRC (P>0.05). There were significant difference of TNM stage between the two group (P<0.05). The most frequent location of CRC was the colon in both DPM patients with CRC and patients with single CRC[35.5% (359/1 011) and 41.8% (23/55), respectively]. Of 55 DPM patients with CRC, 48 were metachronous DPM patients, 7 were synchronous DPM patients and 41 were colorectal cancer first. In extracolonic organ, digestive system (23/55) was the most commonly occurring system and stomach (11/55) was the most common lesion. DPM patients with CRC had higher incidence of MSI-H than patients with single CRC (P<0.05). There was no significant difference of K-ras gene mutation between DPM patients with CRC and patients with single CRC (P>0.05). MSI-H and K-ras mutation were present in only 2 patients of DPM patients with CRC. Conclusions: The rectum is the most common lesion site in CRC patients. The stomach is the most common extracolonic organ of DPM patients with CRC. DPM patients with CRC has high risk of MSI-H, but no significant difference in the incidence of K-ras mutation.

Effect miR-214-3p on proliferation and apoptosis of breast cancer cells by targeting survivin protein.

OBJECTIVE: Studies showed that microRNAs (miRs) play an important role in the development of breast cancer. It has been shown that there were significant differences between the expression levels of serum miR-214-3p in breast cancer patients and healthy controls. Since survivin is involved in cell cycle and apoptosis, this study aims to investigate the effect of miR-214-3p on the proliferation and apoptosis of breast cancer cells. MATERIALS AND METHODS: Dual-Luciferase reporter system was used to validate the cell cycle-related target gene survivin. miRanda and TargetScan were used to predict miR-214-3p target genes. Lipofectamine 2000 was used to transfect the miR-214-3p mimics, miR-NC into the MCF-7 cells. The quantitative Real Time-PCR (qRT-PCR) was used to detect the expression levels of miR-214-3p and survivin. The 3-(4,5-dimethyl-2-thiazolyl)-2,5-diphenyl-2-H-tetrazolium bromide (MTT) assay was used to examine the cell proliferation of breast cancer cells. The flow cytometry assay was used to evaluate the apoptosis of breast cancer cells. RESULTS: Dual-Luciferase reporter assay showed that cells co-transfected with wild-type vector and miR-214-3p mimics had significant lower ratios of hRluc/Luc fluorescence compared to that of the control group (p<0.05). The expression level of miR-214-3p was increased along with the increase of time after transfection, whereas the expression level of survivin mRNA was decreased along with the increase of time post transfection. This result suggests that miR-214-3p regulates the mRNA expression of survivin. Transfection of miR-214-3p inhibitor increased the proliferation of MCF-7 cells and transfection of miR-214-3p mimics decreased the proliferation of MCF-7 cells compared to control group (p<0.05). CONCLUSIONS: Survivin gene is a downstream target of miR-214-3p in breast cancer cells. The expression of miR-214-3p and survivin is correlated with the proliferation and apoptosis of breast cancer cells.

Genetic polymorphisms in IL1B predict susceptibility to steroid-induced osteonecrosis of the femoral head in Chinese Han population.

The purpose of this research was to examine if the IL1B gene polymorphism has impact on the risk of steroid-induced ONFH in Chinese population. We found that IL1B rs1143630 decreased the SANFH's risk and IL1B rs2853550 increased the risk of steroid-induced ONFH. So, we guess that IL1B gene influences the genetic susceptibility of steroid-induced ONFH. INTRODUCTION: Genetic polymorphisms in IL1B gene could be related in the pathogenesis of osteonecrosis. Discusses on the relationship between the IL1B gene and steroid-induced osteonecrosis of the femoral head (steroid-induced ONFH) is still less in Chinese Han population. So, in this research, we want to examine whether the IL1B gene polymorphism has impact on the risk of steroid-induced ONFH in Chinese population. METHODS: A total of 286 steroid-induced ONFH patients and 441 controls were recruited, and seven SNPs (rs2853550, rs1143643, rs3136558, rs1143630, rs1143627, rs16944, and rs1143623) in IL1B gene were selected; unconditional logistic regression analysis was used to research the influence on the risk of steroid-induced ONFH. Functional annotations of IL1B variants were performed by RegulomeDB and HaploReg. RESULTS: rs1143630 (A>C) in the IL1B gene decreased the risk of steroid-induced ONFH in the allele model (OR = 0.69, 95%CI 0.51-0.93, p = 0.014). Further genetic model analyses found that IL1B rs2853550 AG genotype increased the risk of steroid-induced ONFH compared with the people who are carriers of the IL1B rs2853550 GG genotype (OR = 1.69, 95%CI 1.16-2.46, p = 0.012). In the dominant model, IL1B rs1143630 GG-GT genotype decreased the risk of steroid-induced ONFH (OR = 0.62, 95%CI 0.44-0.87, p = 0.0051). And further haplotype analysis was performed, while the result was not significant. Using RegulomeDB and HaploReg, rs2853550 is likely to affect TF binding, any motif and DNase peak. CONCLUSIONS: We guess that IL1B gene influences the genetic susceptibility of steroid-induced ONFH.

[Visceral parasitic migration of liver: a clinicopathologic analysis of seven cases].

Objective: To investigate the clinical, radiological and pathological features of visceral parasitic migration of the liver. Methods: Seven cases of visceral parasitic migration of liver were identified at the Affiliated Drum Tower Hospital of Medical School of Nanjing University from January 2008 to July 2017. Clinical data, enhanced CT image and pathological features were analyzed, combining with literature review. Results: There were 5 male and 2 female patients. Five patients presented with abdominal pain or discomfort as the first symptom. Two patients were admitted to the hospital for physical examination with liver nodule. Blood eosinophils were mildly to moderately increased in 4 cases. Enhanced CT showed the liver irregular beaded nodules that showed no significant enhancement of arterial phase. Mild enhancement of round lesions (ring lesion) was seen in a few cases before surgery. By histopathology, the lesions showed central geographic necrosis, surrounded by epithelioid granuloma and inflammatory cell bands. A large number of eosinophils and scattered multinucleated giant cells were found, especially at the peripheral of the lesion. Charcot-Leyden crystals were present in all case and parasitic migrans was found in one case. Conclusions: Visceral parasitic migration of liver is a rare liver disease and is easily misdiagnosed as other benign or malignant liver tumors. Combining clinical data, enhanced CT images and pathological examination can improve the preoperative and postoperative diagnosis of the disease.

Anti-proliferative effect of digoxin on breast cancer cells via inducing apoptosis.

OBJECTIVE: Digoxin is a kind of plant-derived cardiac glycoside that is mainly used to treat heart diseases, especially in congestive heart failure or arrhythmia. However, its potentiality presented in anti-tumor remains unexplored. The purpose of this study was designed to investigate the beneficial pharmacological activity of digoxin on breast cancer cell line (MDA-MB-231, MM231). MATERIALS AND METHODS: The methyl thiazolyl tetrazolium (MTT) assay was utilized to detect the proliferation of the breast cancer MM231. The apoptotic cell numbers were determined by the flow cytometry analysis. The expressions of Bcl-2 (B-cell lymphoma-2) and Bax (Bcl2-associated X protein) were detected by Western blot analysis. RESULTS: Digoxin dose-dependently blocked the cell growth of the breast cancer MM231 through MTT assay, whereas the apoptotic numbers were significantly elevated as reflected in acridine orange staining and flow cytometry analysis. In addition, findings from Western blotting method indicated that digoxin intervention showed reduced Bcl-2 expression and elevated Bax level in MM231 cells, characterized by increased Bax/Bcl-2 ratio. CONCLUSIONS: Digoxin plays a potential anti-tumor role in breast cancer in vitro, possibly by inducing mitochondria-dependent apoptosis.

[Clinical value of bendopnea in chronic heart failure patients with reduced left ventricular ejection fraction].

Objective: To explore the clinical value of bendopnea in chronic heart failure patients with reduced ejection fraction (HFrEF). Methods: According to the existence of bendopnea or not, a total of 192 consecutive chronic heart failure patients with HFrEF admitted to our department from January 2014 to January 2016 were divided into the bendopnea group and non-bendopnea group. Subgroup analysis was performed in the subgroups with various bendopnea symptoms appearance time (0-10 s, 11-20 s and 21-30 s). The relationship between bendopnea and left ventricular ejection fraction (LVEF), 6-minute walking distance (6-MWD), NT-proBNP and NYHA classification were analyzed. Results: Bendopnea was confirmed in 74 out of 192 (38.54%) cases with HFrEF, and the average time of symptoms appearance was (8.62±2.29) s. LVEF and 6-MWD values were significantly lower in the bendopnea group than those in the non-bendopnea group (both P<0.05). The NT-proBNP level and the prevalence of patients with NYHA grade Ⅳ were significantly higher in the bendopnea group than those in the non-bendopnea group (both P<0.05). There were significant difference on LVEF, 6-MWD, NT-proBNP and patients with NYHA grade Ⅳ in bendopnea patients with various bendopnea symptoms appearance time (all P<0.05) and shorter bendopnea symptoms appearance time was related to severe symptoms and signs of chronic heart failure. Conclusion: The incidence rate of bendopnea is high in patients with HFrEF, and which is related closely to the cardiac function and shorter bendopnea symptoms appearance time is related to severe symptoms and signs of chronic heart failure in HFrEF patients.

[Clinical application and observation of injectable modified sodium hyaluronate gel filler for facial cosmetic surgery].

Objective: To evaluate the clinical effect of injectable modified sodium hyaluronate gel filler in the treatment of facial profile modification and rejuvenation. Methods: A total of 125 patients who received facial injection of hyaluronate gel from October 2013 to October 2015 were collected. The patients included 62 cases for rhinoplasty, 28 for chin augmentation, 20 for nasolabial fold correction and 15 for lacrimal groove correction. The post-operation results, satisfaction survey and adverse reaction were observed. Results: All the injected positions improved immediately, and the instant average satisfaction score was 9.3±0.7, followed by 8.1±0.7 after 3 months, 6.9±0.8 after 6 month and 5.2±0.8 after 1 year. Thirty cases exhibited swelling, 5 cases bruised, and they all recovered within one week. Conclusions: Sodium hyaluronate is effective and stable in the treatment of facial contour modification and rejuvenation.

Effects of phenol on metabolic activities and transcription profiles of cytochrome P450 enzymes in Chironomus kiinensis larvae.

Phenol, also known as carbolic acid or phenic acid, is a priority pollutant in aquatic ecosystems. The present study has investigated metabolic activities and transcription profiles of cytochrome P450 enzymes in Chironomus kiinensis under phenol stress. Exposure of C. kiinensis larvae to three sublethal doses of phenol (1, 10 and 100 µM) inhibited cytochrome P450 enzyme activity during the 96 h exposure period. The P450 activity measured after the 24 h exposure to phenol stress could be used to assess the level (low or high) of phenol contamination in the environment. To investigate the potential of cytochrome P450 genes as molecular biomarkers to monitor phenol contamination, the cDNA of ten CYP6 genes from the transcriptome of C. kiinensis were identified and sequenced. The open reading frames of the CYP6 genes ranged from 1266 to 1587 bp, encoding deduced polypeptides composed of between 421 and 528 amino acids, with predicted molecular masses from 49.01 to 61.94 kDa and isoelectric points (PI) from 6.01 to 8.89. Among the CYP6 genes, the mRNA expression levels of the CYP6EW3, CYP6EV9, CYP6FV1 and CYP6FV2 genes significantly altered in response to phenol exposure; therefore, these genes could potentially serve as biomarkers in the environment. This study shows that P450 activity combined with one or multiple CYP6 genes could be used to monitor phenol pollution.

Diosgenin prevents bone loss on retinoic acid-induced osteoporosis in rats.

OBJECTIVE: To observe the preventive and therapeutic effects of diosgenin on retinoic acid-induced osteoporosis in rats. METHODS: A total 50 Sprague-Dawley rats were randomly divided into 5 groups: control group, model group (osteoporosis rats), low (10 mg kg(-1)), middle (30 mg kg(-1)), and high-dose diosgenin (90 mg kg(-1))-treated groups. The osteoporosis rats model was induced by retinoic acid. The BMD and physical parameters of femoral including length, wet weight, and dry weight in each group were measured. The hematoxylin-eosin staining was used for bone histomorphology analysis. Besides, the bone calcium (Ca) and phosphorus (P) contents were measured. In order to detect the biochemical index in different treatment groups, the serum tartrate-resistant acid phosphatase (TRAP), alkaline phosphatase (ALP), estradiol, and osteocalcin were compared among different groups. RESULTS: The osteoporosis rat model was successfully induced by retinoic acid. Compared with the model group, the lessening of femoral length and weight and the loss of BMD were significantly improved in diosgenin groups. Both contents of Ca and P were much more increased when induced by retinoic acid (p < 0.05). The estradiol and osteocalcin levels in the middle and high-dose treatment groups were significantly higher than that of the model group, while the ALP and TRAP levels were much lower than the model group (p < 0.05). CONCLUSION: Diosgenin can prevent the loss of bone in experimental rats. The mechanism may be that it improves the level of estrogenic hormone of estradiol and inhibits the high bone turnover.

Subduction-driven recycling of continental margin lithosphere.

Whereas subduction recycling of oceanic lithosphere is one of the central themes of plate tectonics, the recycling of continental lithosphere appears to be far more complicated and less well understood. Delamination and convective downwelling are two widely recognized processes invoked to explain the removal of lithospheric mantle under or adjacent to orogenic belts. Here we relate oceanic plate subduction to removal of adjacent continental lithosphere in certain plate tectonic settings. We have developed teleseismic body wave images from dense broadband seismic experiments that show higher than expected volumes of anomalously fast mantle associated with the subducted Atlantic slab under northeastern South America and the Alboran slab beneath the Gibraltar arc region; the anomalies are under, and are aligned with, the continental margins at depths greater than 200 kilometres. Rayleigh wave analysis finds that the lithospheric mantle under the continental margins is significantly thinner than expected, and that thin lithosphere extends from the orogens adjacent to the subduction zones inland to the edges of nearby cratonic cores. Taking these data together, here we describe a process that can lead to the loss of continental lithosphere adjacent to a subduction zone. Subducting oceanic plates can viscously entrain and remove the bottom of the continental thermal boundary layer lithosphere from adjacent continental margins. This drives surface tectonics and pre-conditions the margins for further deformation by creating topography along the lithosphere-asthenosphere boundary. This can lead to development of secondary downwellings under the continental interior, probably under both South America and the Gibraltar arc, and to delamination of the entire lithospheric mantle, as around the Gibraltar arc. This process reconciles numerous, sometimes mutually exclusive, geodynamic models proposed to explain the complex oceanic-continental tectonics of these subduction zones.

Therapeutic effect of inhaled budesonide (Pulmicort® Turbuhaler) on the inflammatory response to one-lung ventilation.

This prospective, double-blind trial was designed to evaluate the effect of inhaled budesonide on lung function and the inflammatory response to one-lung ventilation. One hundred patients scheduled for lobectomy were allocated randomly to pre-operative nebulised budesonide or saline. Bronchoalveolar lavage fluid samples were collected from either the collapsed or the ventilated lung both before one-lung ventilation and 30 min after re-expansion of the lung. The concentrations of serum and bronchoalveolar lavage fluid cytokines were determined. Budesonide treatment, compared with saline, reduced both peak (mean (SD) 3.7 (0.4) vs 2.5 (0.2) kPa) and plateau (mean (SD) 3.1 (0.2) vs 2.2 (0.1) kPa, respectively, p < 0.001 for both) ventilatory pressures. Thirty minutes after re-expansion, lung compliance increased in the budesonide group compared with saline (57.5 (4.1) vs 40.1 (3.5) ml.cmH(2) O(-1), respectively p < 0.001). Budesonide also reduced the concentrations of tumour necrosis factor-α, interleukin-1ß, interleukin-6 and interleukin-8 in bronchoalveolar lavage fluid, but increased interleukin-10 30 min after re-expansion (p < 0.05 for all measures). Pre-operative nebulisation of budesonide may be effective in improving ventilatory mechanics and reducing the inflammatory response to one-lung ventilation during thoracic surgery.

Polymorphism in PGLYRP-1 gene by PCR-RFLP and its association with somatic cell score in Chinese Holstein.

Bovine peptidoglycan recognition protein 1 (PGLYRP-1), an important pattern recognition molecule (PRM) of the innate immune system, is an effector molecule in killing different microorganisms directly. To investigate whether the PGLYRP-1 gene was associated with mastitis and milk production traits in dairy cattle, the polymorphism of this gene was analyzed by PCR-RFLP in a population of 524 Chinese Holstein. A total of ten single nucleotide polymorphism (SNP) loci were identified. The association analysis of single SNP locus showed that T-35A, T-12G and G+102C were significantly associated (P<0.05) with somatic cell score (SCS), while G+102C and G+649C were significantly associated (P<0.05) with 305-day milk yield. Association analysis between combined haplotypes and SCS, milk production traits indicated that H3H3 was associated with the lower SCS (P<0.01), and H2H2 was associated with the lower 305-day milk yield (P<0.01). These findings demonstrated that polymorphisms in PGLYRP-1 gene associated with mastitis resistance and 305-day milk yield, and the H3H3 would provide a useful genetic marker of combined haplotypes for mastitis resistance selection and breeding in Chinese Holstein.

Polymorphism in PGLYRP-2 gene by PCR-RFLP and its association with somatic cell score and percentage of fat in Chinese Holstein.

Peptidoglycan recognition protein 2 (PGLYRP-2), which belongs to the PGRP family, is the only member that has no direct bactericidal activity but has N-acetylmuramoyl-l-alanine amidase activity. This feature of PGLYRP-2 indicates that it may play an important role in eliminating the pathogen associated molecular pattern (PAMP), such as peptidoglycan (PGN), which can reduce leukocytes in blood and lower somatic cell count (SCC) in milk. To investigate whether the PGLYRP-2 gene is associated with mastitis and milk production traits in dairy cattle, the polymorphism of this gene was analyzed by PCR-RFLP in a population of 546 Chinese Holstein cows. A total of five single nucleotide polymorphism (SNP) loci were identified. The association analysis of a single SNP locus showed that the C+4867T locus was significantly associated (P < 0.05) with somatic cell score (SCS). Surprisingly, all loci were significantly associated (P < 0.01 or P < 0.05) with percentage of fat. Association analysis between combined genotypes and SCS and milk production traits indicated that H2H2 was associated with higher percentage of fat (P < 0.05). These findings demonstrated that SNPs in PGLYRP-2 gene were related to mastitis resistance and percentage of fat, and that H2H2 would be a useful genetic marker of combined genotypes for breeding of Chinese Holstein.

Association study of functional polymorphisms in serotonin transporter gene with temporal lobe epilepsy in Han Chinese population.

BACKGROUND AND PURPOSE: Serotoninergic dysfunction was reported to be involved in aetiology of temporal lobe epilepsy (TLE). Serotonin (5-HT) is actively cleared from synaptic cleft by serotonin transporter (5-HTT). We investigated the association between three common polymorphisms of 5-HTT gene, which may influence gene expression or function, and risk for TLE. METHODS: Three hundred and thirty-four patients with TLE and four hundred and eighty-seven non-epileptic control subjects from Han Chinese origin were enrolled for the present study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping. RESULTS: 10-repeat allele frequency of 17 bp variable number of tandem repeats in the second intron (5-HTTVNTR) was moderately higher in patients with TLE than in controls (9.1% vs. 6.1%, P=0.0187, OR=1.55, 95%CI=1.07-2.26). CONCLUSION: Our study suggested 10-repeat allele of 5-HTTVNTR may be associated with TLE susceptibility.