Characterisation of the complete mitochondrial genome, genetic diversity and maternal origin of Huainan Partridge chicken.

1. The objectives of the present study were to investigate the complete mitochondrial genome, genetic diversity and maternal origin of Huainan Partridge chicken (HPC).2. One complete mitochondrial genome and 37 complete D-loop regions of HPC were sequenced. Moreover, 400 mitochondrial genome D-loop sequences of Chinese native chicken were downloaded from the National Centre for Biotechnology Information database.3. The complete HPC genome was 16,785 bp in size, including 22 tRNA genes, two rRNA genes, 13 protein-coding genes and one non-coding control region. The haplotype diversity and nucleotide diversity of HPC were 0.964, and 0.00615, respectively. Twenty-three variable sites defining 22 haplotypes were identified, and the 22 haplotypes were distributed into three haplogroups (A, B, and C).4. In conclusion, HPC has a typical vertebrate mitochondrial genome, relatively high haplotype diversity, relatively low nucleotide diversity, and potentially three maternal lineages. HPC showed considerable genetic information exchange with Southwest Chinese chicken populations and had not admixed with European commercial breeds in the course of domestication.

[mRNA level of N-methyl-D-aspartic acid receptor NR1 subunit in patients with major depressive disorder and its relationship with clinical features].

Objective: To investigate the characteristics of glutamatergic neurotransmitter and neurotransmission dysfunction in patients with major depressive disorder (MDD) and its relationship with clinical characteristics. Methods: Fifty-two patients with MDD and 51 healthy controls were selected. Hamilton Depression scale-17 (HAMD-17) and Hamilton Anxiety Scale (HAMA) were used to evaluate the symptoms of depression and anxiety. The serum glutamate level was measured by enzyme-linked immunosorbent assay (ELISA). Reverse transcription polymerase chain reaction (RT-PCR) was used to detect the mRNA level of NR1 subunit of NMDA receptor. Results: There was no significant difference in gender and age between MDD group and healthy control group. Compared with the control group, the level of serum glutamate [(35±6) mg/L vs (29±6) mg/L, P = 0.021] and mRNA level of NR1 (1.5±0.8 vs 0.8±0.6, P = 0.001) in MDD group were significantly higher. In MDD group, serum glutamate level was positively correlated with depression core symptom score (r = 0.52, P = 0.028), and mRNA level of NR1 subunit was positively correlated with the total course of disease (r = 0.42, P = 0.024). Conclusion: MDD patients may have disorder of glutamatergic neurotransmitter and abnormal expression of NR1 subunit.

[Comparative analysis of serum glutamate and gamma-aminobutyric acid levels in patients with bipolar depressive disorder and major depression disorder].

Objective: To investigate the difference of serum glutamate (Glu) and gamma- aminobutyric acid (GABA) levels between depressive patients and bipolar disorder patients with depressive episodes. Methods: From May 2018 to March 2019, forty-seven patients with depression (depression group) and 45 patients with bipolar depressive episode (bipolar depression group) were selected from the department of psychiatry, the First Affiliated Hospital of Jinan University, and 41 healthy controls (healthy control group) were simultaneously recruited from the community. The subjects' depression and anxiety were assessed by 17 items of Hamilton depression scale (HAMD-17) and Hamilton Anxiety Scale (HAMA). The serum levels of Glu, GABA and Glu decarboxylase (GAD) were detected by enzyme-linked immunosorbent assay (ELISA) . Results: The serum Glu level ( (36±7) mg/L, (37±7) mg/L vs (28±4) mg/L, F=10.97, P<0.01) and Glu/GABA ratio (5.77±0.35, 8.18±0.24 vs 3.35±0.33, F=37.68, P<0.01) in depression and bipolar depression groups were higher than those of healthy control group, while the GABA level ((6.1±0.7) µmol/L,(4.1±0.8) µmol/L vs (8.1±1.2) µmol/L, F=21.61, P<0.01) and GAD ((31±6) U/L, (31±6) U/L vs (35±6) U/L, F=5.61, P<0.01) were lower than those of healthy control group. The level of serum GABA in bipolar depression group was lower than that in depression group. However, Glu/GABA was higher in bipolar depression group than that in depression group (P<0.01). The level of serum GABA in depression group was negatively correlated with HAMD sleep disorder factor (r=-0.46, P=0.01). Conclusions: Both depression and bipolar depression have abnormal levels of Glu, GABA neurotransmitters and imbalance between Glu and GABA in peripheral blood circulation. Moreover, these abnormalities are more obvious in patients with bipolar depression.

[Clinical characteristics and whole exon sequence study of a Chinese family with autosomal dominant lateral temporal lobe epilepsy].

Objective: To explore the genetic characteristics in a Chinese family with autosomal dominant lateral temporal lobe epilepsy (ADLTE) and analyze the correlation between genotype and phenotype. Methods: The natural history, clinical data and peripheral blood sample were collected in all patients and two healthy members of this ADLTE family. Whole exon sequence (WES) analysis strategy was used to explore the underlying mutations. Possible causative genetic variation was further confirmed by direct PCR and Sanger sequencing. The genotype-phenotype features were compared with previously reported cases. Results: A novel pathogenetic LGI1 frameshift mutation p.T134fs was identified in this study. The clinical phenotype was different from reported. Conclusion: This study reports a pathogenic LGI1 mutation in a Chinese ADLTE family for the first time, which suggests that LGI1 is a new genetic abnormality of ADLTE in Chinese.

Impacts of ambient temperature on the burden of bacillary dysentery in urban and rural Hefei, China.

Bacillary dysentery continues to be a major health issue in developing countries and ambient temperature is a possible environmental determinant. However, evidence about the risk of bacillary dysentery attributable to ambient temperature under climate change scenarios is scarce. We examined the attributable fraction (AF) of temperature-related bacillary dysentery in urban and rural Hefei, China during 2006-2012 and projected its shifting pattern under climate change scenarios using a distributed lag non-linear model. The risk of bacillary dysentery increased with the temperature rise above a threshold (18·4 °C), and the temperature effects appeared to be acute. The proportion of bacillary dysentery attributable to hot temperatures was 18·74% (95 empirical confidence interval (eCI): 8·36-27·44%). Apparent difference of AF was observed between urban and rural areas, with AF varying from 26·87% (95% eCI 16·21-36·68%) in urban area to -1·90% (95 eCI -25·03 to 16·05%) in rural area. Under the climate change scenarios alone (1-4 °C rise), the AF from extreme hot temperatures (>31·2 °C) would rise greatly accompanied by the relatively stable AF from moderate hot temperatures (18·4-31·2 °C). If climate change proceeds, urban area may be more likely to suffer from rapidly increasing burden of disease from extreme hot temperatures in the absence of effective mitigation and adaptation strategies.

Effect of diurnal temperature range on the outpatient visits for acute bronchitis in children: a time-series study in Hefei, China.

OBJECTIVES: To determine the relationship between diurnal temperature range (DTR) and outpatient visits for childhood acute bronchitis (AB) in Hefei, China, to analyze whether DTR effect was delayed, and to explore the susceptible populations. STUDY DESIGN: An ecological study. METHODS: A Poisson generalized linear regression model combined with a distributed lag non-linear model was used to analyze the relationship between DTR and childhood AB from Hefei, China during 2010-2013, after adjusting for long-term trend and seasonality, mean temperature and relative humidity. RESULTS: An adverse effect of DTR on childhood AB was observed, and the impact of DTR was greatest at three days lag, with a 1.0% (95% confidence interval = 0.5-1.6%) increase of AB cases per 1 °C increment of DTR. Female children and children aged 0-4 years appeared to be more vulnerable to DTR effect than other children. CONCLUSIONS: Our study suggests that large DTR may increase the incidence of childhood AB in Hefei, particularly for those who are female and young. Caregivers and health practitioners should be made aware of the potential threat posed by large DTR.

[The 452th case: rash, hypotension, abdominal pain and headache].

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized with multiple organ involvements. Acute acalculous cholecystitis(AAC) is an extremely rare manifestation of digestive system involvement in SLE. We reported a case of 32-year-old woman who complained skin rashes for two weeks and stomachache and oliguria for one day. She had rashes at onset, and developed fever, stomachache, hypotension and headache. Physical examination at admission indicated blood pressure 76/47 mmHg(1 mmHg=0.133 kPa), heart rate 107 beats/min, warm acra. Murphy's sign was positive. Ultrasound suggested the enlarged gallbladder with surrounding hypoecho band yet no biliary calculi were found. A diagnosis of SLE was made, characteristic with distributive shock at the onset and AAC, complicated with neuropsychiatric lupus and lupus nephritis. She had an acute and severe course of disease, which had been relieved after treatment of high dose glucocorticoid and immunosuppressants. This case arouses clinicians to pay more attention to AAC as a rare form of disease flare in SLE. Early diagnosis of AAC is crucial to a favorable prognosis and in avoid of abdominal surgery.

[Epidemiologic characteristics and risk factors for congenital hypothyroidism from 1989 to 2014 in Beijing].

OBJECTIVE: To investigate the epidemiologic characteristics and risk factors for congenital hypothyroidism (CH) in Beijing between the years 1989 and 2014. METHODS: Information on neonatal screening, and diagnoses and treatment of CH from 1989 to 2014 were obtained from the database of the Beijing Neonatal Screening Center. The screening parameter was thyroid-stimulating hormone (thyrotropin; TSH), which was measured by radioimmunoassay (RIA) from 1989 to 1995, enzyme-linked immunosorbent assay (ELISA) from 1996 to 2003, and time-resolved fluorescence immunoassay (DELFIA(®)) from 2004 to 2014. The cutoff value of each screening method was set as the international standard for the corresponding years (20 mIU/L from 1989 to 1995 and 10 mIU/L from 1996 to 2014). CH was diagnosed using "The Technical Specification of Diagnosis and Treatment of Phenylketonuria and Congenital Hypothyroidism" , published in 2010 by the Ministry of Health of the People's Republic of China. Data on live birth infants were obtained from Beijing obstetric quality reports. The incidence of CH using different screening methods was compared, and trends in annual incidence were analyzed. To exclude the influence of different screening methods, data from the years 2004 to 2014 were used to identify the risk factors for CH. RESULTS: Between 1989 and 2014, the incidence of CH in Beijing was 36.7 per 100 000 individuals, with permanent CH (PCH) and transient CH (TCH) having incidences of 16.4 per 100 000 and 15.9 per 100 000, respectively. The annual incidence of CH increased from 11.2 per 100 000 in 1989 to 51.0 per 100 000 in 2014 (χ(2)=119.02, P<0.001), with PCH increasing from 5.6 to 16.0 per 100 000 (χ(2)=34.38, P<0.001) and TCH increasing from 5.6 to 13.0 per 100 000 (χ(2)=26.93, P<0.001). Among the PCH cases, 70.44% (255/362) were thyroid dysgenesis or ectopic glands, while the other 29.56% (107/362) were dyshormonogenesis. Between 2004 and 2014, the incidence of CH in females (51.7/100 000) was higher than in males (37.0/100 000), and it was higher in post-term (334.5/100 000) and preterm births (77.8/100 000) than that in term births (41.4/100 000). It was also higher in the low birth weight (87.7/100 000) than the normal (42.4/100 000) and high birth weight (42.6/100 000) populations. CONCLUSIONS: Between 1989 and 2014, there was a tendency towards an increase in the overall incidence of CH, and the incidence of both PCH and TCH in Beijing. Female sex, preterm birth, older gestational age, low birth weight, and preterm birth were risk factors affecting the incidence of CH in Beijing.

Cardioprotective effect of miR-214 in myocardial ischemic postconditioning by down-regulation of hypoxia inducible factor 1, alpha subunit inhibitor.

To determine the significance of miR—214 expression in ischemic post—conditioning. Sixty rats were grouped to establish animal models. Immuno— luminescence and chemical methods were used to detect oxidative stress indicators. Hemodynamics indexes were measured by carotid artery intubation, and ischemia and infarction areas by Evans blue and 2,3—5 triphenyltetrazolium chloride(TTC) staining. TargetScan was used for identification and luciferase assays for verification of target genes.miR—214 and hypoxia inducible factor 1, alpha subunit inhibitor (HIF1AN) were analyzed by real—time quantitative polymerase chain reaction. Ischemia reperfusion significantly decreased left ventricular systolic pressure, +dp/dtmax, and —dp/dtmax and increased left ventricular end—diastolic pressure; ischemic post—conditioning had contrasting effects. Compared to the sham group, the ischemic/reperfusion (IR) group showed increased creatine kinase isoenzyme (CK—MB) and malondialdehyde (MDA) in the myocardium and decreased SOD. miR—214 in the IR group was down—regulated, and HIF1AN, up—regulated. Compared with the IR group, the ischemia postconditioning (IPC) group showed decreased CK—MB and MDA in the myocardium and increased SOD. The proportion of infarction area to ischemia area in IPC group declined compared to IR group. miR—214 and HIF1AN in the IPC group showed significant up— and down—regulation, respectively. Ischemic postconditioning can improve myocardial function, reduce myocardial infarction area, and prevent the ischemia reperfusion injury. miR—214 may participate in the protective function of ischemic post—conditioning by down—regulating HIF1AN.

Temporal trends in characteristics and outcome of intensive care unit patients with systemic lupus erythematosus in Taiwan: a national population-based study.

This study assessed temporal trends in characteristics and outcome of the intensive care unit (ICU) patients with systemic lupus erythematosus (SLE). We analyzed 2870 SLE patients (≥15 years) with first-time ICU admission between 1999 and 2008. Patient data were retrieved from the Taiwan National Health Insurance Research Database. Median age of the patients increased from 38.5 to 44.0 years during the study period. Most patients were women (overall 85.5%); the proportion varied insignificantly over time. Median duration from SLE diagnosis to ICU admission (disease duration) increased by four years. The proportion of patients with disease duration of more than three years increased from 42.6% to 61.4%, whereas the proportion of patients with a primary rheumatic diagnosis decreased from 41.7% to 25.1%. The incidence of infection increased from 39.1% to 47.2%. The incidence of organ dysfunction increased from 64.1% to 69.2%, especially in neurological, cardiovascular, and respiratory systems. Conversely, the incidence of renal dysfunction decreased from 36.2% to 28.8%. Meanwhile, there were decreasing uses of hemodialysis (from 37.3% to 28.7%) and vasopressors (from 58.3% to 47.9%). Hospital mortality also decreased from 42.6% to 31.2% during the 10 years. After the patient and hospital characteristics were adjusted, patients admitted in 2007 and 2008 were 50% less likely to die than those admitted in 1999 and 2000 (adjusted odds ratio 0.5, 95% confidence interval 0.38-0.67). This study demonstrates a temporal improvement of the short-term survival of the ICU patients with SLE in Taiwan despite changing characteristics and increasing severity of the acute critical illnesses.

Clinical relevance and functional implications for human leucocyte antigen-g expression in non-small-cell lung cancer.

HLA-G has been documented both in establishment of anti-tumour immune responses and in tumour evasion. To investigate the clinical relevance of HLA-G in non-small-cell lung cancer (NSCLC), expression status and potential significance of HLA-G in NSCLC were analysed. In this study, HLA-G expression in 101 NSCLC primary lesions and plasma soluble HLA-G (sHLA-G) from 91 patients were analysed with immunohistochemistry and ELISA, respectively. Correlations between HLA-G status and various clinical parameters including survival time were evaluated. Meanwhile, functional analysis of transfected cell surface HLA-G expression and plasma sHLA-G form NSCLC patients on natural killer (NK) cell cytolysis were performed. Data revealed that HLA-G was expressed in 41.6% (42/101) NSCLC primary lesions, while undetectable in adjacent normal lung tissues. HLA-G expression in NSCLC lesions was strongly correlated to disease stages (P= 0.002). Plasma sHLA-G from NSCLC patients was markedly higher than that in normal controls (P= 0.004), which was significantly associated with the disease stages (I versus IV, P= 0.025; II versus IV, P= 0.029). Patient plasma sHLA-G level (≥median, 32.0 U/ml) had a significantly shorter survival time (P= 0.044); however, no similar significance was observed for the lesion HLA-G expression. In vitro data showed that both cell surface HLA-G and patient plasma sHLA-G could dramatically decrease the NK cell cytolysis. Our findings indicated that both lesion HLA-G expression and plasma sHLA-G in NSCLC is related to the disease stage and can exert immunosuppression to the NK cell cytolysis, indicating that HLA-G could be a potential therapeutic target. Moreover, plasma sHLA-G in NSCLC patients could be used as a prognosis factor for NSCLC.

Upregulation of matrix metalloproteinase-2 in the arterial vasculature contributes to stiffening and vasomotor dysfunction in patients with chronic kidney disease.

BACKGROUND: Cardiovascular disease is the leading cause of mortality in chronic kidney disease patients on maintenance dialysis. Given the importance of matrix metalloproteinase-2 (MMP-2) in matrix integrity, vascular cell function, and structural stability, we hypothesized that MMP-2 was elevated in the macrovasculature in dialyzed chronic kidney disease patients compared with chronic kidney disease patients not on dialysis and kidney donors. METHODS AND RESULTS: Arteries from live kidney donors (A(donor); n=30) and recipients (nondialysis [A(nondialyzed)], n=17; dialysis [A(dialyzed)], n=23 [peritoneal dialysis, n=10; hemodialysis, n=13]) were harvested during the transplantation procedure. Compared with A(donor), MMP-2 upregulation was evident in both recipient groups. Protein expression of latent plus active MMP-2 in A(dialyzed) was 2-fold that in A(nondialyzed). MMP-2 activity increased with length of dialysis (r=0.573, P=0.004). In A(dialyzed), medial elastic fiber fragmentation was pronounced, and the ratio of external elastic lamina to media was negatively correlated with MMP-2 activity (r=-0.638, P=0.001). A(dialyzed) was 25% stiffer than A(nondialyzed); this increased stiffness correlated with MMP-2 activity (r=0.728, P<0.0001) and the severity of medial calcium deposition (r=0.748, P=0.001). The contractile function and endothelium-dependent relaxation were reduced by 35% to 55% in A(dialyzed) and were negatively associated with MMP-2 activity (r=-0.608, P=0.002; r=-0.520, P=0.019, respectively). Preincubation with MMP-2 inhibitor significantly improved contractility and relaxation in A(dialyzed). CONCLUSIONS: We describe a strong correlation between MMP-2 activation and elastic fiber disorganization, stiffness, calcification, and vasomotor dysfunction in the arterial vasculature in dialyzed chronic kidney disease patients. These findings may contribute to an improved understanding of mechanisms important in vascular health in chronic kidney disease patients.

Differential microvasculature dysfunction in living kidney donor transplant recipients: nondialyzed versus dialyzed chronic kidney disease patients.

We hypothesized that there was differential vasomotor dysfunction in the microcirculation between nondialyzed and dialyzed chronic kidney disease (CKD) patients. During live donor kidney transplantation procedures, skin arterioles (SkA; internal diameter = 120 +/- 5 microm) from donors (n = 27) and recipients (nondialysis = 15; dialysis = 20) were dissected from the abdominal wall at the incision site. In vivo aortic pulse wave velocity (PWV) was also measured. In the in vitro isometric force measurement, nondialyzed SkA exhibited comparable contraction to donor SkA, whereas dialyzed SkA had 60 and 40-50% increase in contraction in response to depolarization and agonist (that is, phenylephrine, serotonin and endothelin-1) stimulation, respectively. The acetylcholine-induced relaxation in the nondialyzed SkA was decreased by 50% compared with dialyzed SkA. However, pre-incubation with superoxide dismutase greatly enhanced the relaxation response in the nondialyzed, but not in the dialyzed SkA and donor SkA. Pre-incubation with N(G)-nitro-L-arginine methyl ester (L-NAME) elevated the resting tension and left-shifted the concentration response curve of phenylephrine-stimulated contraction in the donor-SkA. L-NAME only increased the resting tension in the nondialyzed vessel. In vitro stiffness positively correlated with PWV (R(2) = 0.302, p = 0.001), and dialyzed SkA was 60% stiffer than nondialyzed and donor SkA. The acetylcholine relaxation was negatively correlated with PWV in donors and recipients (R(2) = 0.282, p = 0.01). In conclusion, we have uniquely demonstrated differential microvasculature dysfunction between nondialyzed and dialyzed CKD patients.

Long-term doxycycline is more effective than atenolol to prevent thoracic aortic aneurysm in marfan syndrome through the inhibition of matrix metalloproteinase-2 and -9.

Beta-blockers, eg, atenolol, are the cornerstone therapy for thoracic aortic aneurysm (TAA) in patients with Marfan syndrome; however, continued aortic dilatation has been reported. We have demonstrated that matrix metalloproteinase (MMP)-2 and -9 were upregulated during progression of TAA in Marfan syndrome, accompanied with degenerated elastic fibers and vasomotor dysfunction. We hypothesized that doxycycline, a nonspecific inhibitor of MMPs, would ameliorate TAA by attenuating elastic fiber degeneration and improving vasomotor function. A well-characterized mouse model of Marfan syndrome (Fbn1(C1039G/+)) was used. Mice were untreated (n=40), given doxycycline (0.24 g/L, n=30), or given atenolol (0.5 g/L, n=30) in drinking water at 6 weeks of age. The Fbn1(+/+) mice served as control (n=40). At 3, 6, and 9 months, aortic segments from the ascending, arch, and descending portions were used to obtain the "average" value of the whole thoracic aorta. TAA was prevented in the doxycycline group, whereas mild aneurysm was evident in the atenolol group. Doxycycline improved elastic fiber integrity, normalized aortic stiffness, and prevented vessel weakening. The impairment of vasocontraction and endothelium-dependent relaxation in the untreated and atenolol groups were improved by doxycycline. The upregulation of transforming growth factor-beta in the Marfan aorta was suppressed by doxycycline. Doxycycline augmented expression ratios of tissue inhibitors of MMP to MMPs. Intraperitoneally injected neutralizing antibodies against MMP-2 and -9 yielded similar effects to doxycycline. We concluded that long-term treatment with doxycycline, through the inhibition of MMP-2 and -9, is more effective than atenolol in preventing TAA in Marfan syndrome by preserving elastic fiber integrity, normalizing vasomotor function, and reducing transforming growth factor-beta activation.