[Clinical and molecular genetic analysis of Angelman syndrome with oculocutaneous albinism type 2: A case report and literature review].

To summarize the clinical diagnosis and treatment process and genetic test results and characteristics of one child with Angelman syndrome (AS) complicated with oculocutaneous albinism type 2 (OCA2), and to review the literature. "Angelman syndrome" "P gene" and "Oculocutaneous albinism type 2" were used as keywords to search at CNKI, Wanfang, and PubMed databases (from creation to December 2019). Then all the patients were analyzed. The patient in this study was a girl aged 1 year. After birth, she was found to present as white body, yellow hair, and nystagmus. She could raise her head at the age of 2 months and turn over at the age of 7 months. The head circumference was 42 cm and she could not sit alone or speak at present. Trio-based exome sequencing revealed that the patient carried a homozygous mutation of c.168del (p.Gln58ArgfsTer44) in the P gene, and her father was heterozygous and her mother was wild-type. The detection of copy number variation showed deletion on the maternal chromosome at 15q11.2-13.1 region (P gene located in this region) in the patient. Until December 2019, a total of 4 cases in the 4 literature had been reported. Adding our case here, the 5 cases were summarized and found that all the cases showed white skin, golden hair, and shallow iris after birth. Comprehensive developmental delay was found around 6 months of age after birth, and the language remained undeveloped in 2 cases till follow-up into childhood. Seizures occurred in 4 patients. Two cases had ataxia. All the 5 cases had acquired microcephaly. Two cases had a family history of albinism. Electroencephalogram monitoring was completed in 3 cases and the results were abnormal. Genetic tests showed that all the 5 cases had deletion on maternal chromosome at 15q11-13 region. Four cases carried mutation of P gene on paternal chromosome. And 1 case was clinically diagnosed as OCA2 without P gene test. AS combined with OCA2 is relatively rare. OCA2 is easily diagnosed based on the obvious clinical manifestations after birth. When combined with clinical manifestations such as neurodevelopmental delay, it might indicate the possibility of AS that is hardly diagnosed clinically at an early stage. Genetic tests can reveal the cross-genetic phenomenon of AS and OCA2 and the complex of them can be eventually diagnosed.

[Effect of hyperandrogenism on pregnancy outcomes in women with polycystic ovary syndrome undergoing in vitro fertilization/intracytoplasmic sperm injection-embryo transfer].

Objective: To explore the effects of hyperandrogenism (HA) on pregnancy outcomes in women with polycystic ovary syndrome (PCOS) undergoing in vitro fertilization/intracytoplasmic sperm injection-embryo transfer (IVF/ICSI-ET). Methods: A retrospective study was conducted on infertile women with PCOS undergoing IVF/ICSI-ET from January 2017 to June 2021 in our center. Patients were divided into HA group and NON-HA group according to the levels of testosterone. Propensity score matching (PSM) was used to balance the influence of female age and IVF/ICSI-ET for patients with gonadotropin-releasing hormone (GnRH)antagonist protocol and GnRH agonist protocol, separately. After the PSM procedure, 191 cases in HA group and 382 cases in NON-HA group, were included. Hormone levels and pregnancy outcomes were compared in the two groups. Results: The female age was comparable in two groups [HA: (29.6±3.7) vs NON-HA: (29.5±3.6), P=0.665]. The basal luteinizing hormone [(10.82±6.73) vs (7.76±5.30) IU/L], testosterone [(3.27±0.97) vs (1.60±0.59) nmol/L], free androgen index (7.13 vs 2.77), anti-mullerian hormone [(11.37±5.74) vs (9.67±4.67) ng/ml], fasting glucose [(5.18±0.49) vs (5.06±0.42) mmol/L], 1h glucose [(9.34±2.42) vs (7.99±2.21) nmol/L], 2 h glucose [(7.66±2.17) vs (6.64±1.84) nmol/L], 2 h insulin [(129.81±145.49) vs (97.51±86.92) mU/L], total cholesterol [(5.35±0.89) vs (4.92±0.92) mmol/L], triglycerides [(1.55±1.28) vs (1.33±0.77) mmol/L], and low density lipoprotein cholesterol levels [(3.38±0.66) vs (3.14±0.71) mmol/L] were significantly higher in HA group, compared with NON-HA group (P<0.05). The initiated gonadotropin dose was higher in HA group than that in NON-HA group [(126.96±33.65) vs (137.60±38.12) U, P=0.001], but moderate-severe ovarian hyperstimulation syndrome (OHSS) rate was similar in two groups (P>0.05). The rates of implantation, clinical pregnancy, miscarriage, and live birth were comparable between the two groups (P>0.05). Also, in the subgroups, the rates of implantation, clinical pregnancy, live birth, and miscarriage were similar in HA group and NON-HA group. Conclusions: The risks of hormonal abnormality and glucose-lipid metabolic disorder were higher in PCOS women with HA, whereas satisfactory pregnancy outcomes could be achieved under proper ovarian stimulation undergoing IVF/ICSI-ET.

[The effects of robotic-assisted versus laparoscopic-assisted radical right hemicolectomy on short-term outcome and long-term prognosis based on propensity score matching].

Objective: To compare the short-term and long-term outcomes between robotic-assisted and laparoscopic-assisted radical right hemicolectomy in patients with adenocarcinoma of the right colon. Methods: Retrospective review of a prospectively collected database identified 288 right colon cancer patients who underwent either robotic-assisted (n=57) or laparoscopic-assisted right hemicolectomy (n=231) between October 2014 and October 2020 at Department of Gastrointestinal Surgery, the Affiliated Hospital of Qingdao University. There were 161 males and 127 females, aging (60.3±12.8) years (range: 17 to 86 years). After propensity score matching as 1∶4 between robotic-assisted and laparoscopic-assisted right hemicolectomy, there were 56 cases in robotic group and 176 cases in laparoscipic group. Perioperative outcomes and overall survival were compared between the two groups using t test, Wilcoxon rank sum test, χ2 test, Fisher exact test, Kaplan-Meier method and Log-rank test, respectively. Results: The total operative time was similar between the robotic and laparoscopic group ((206.9±60.7) minutes vs. (219.9±56.3) minutes, t=-1.477, P=0.141). Intraoperative bleeding was less in the robotic group (50 (20) ml vs. 50 (50) ml, Z=-4.591, P<0.01), while the number of lymph nodes retrieved was significantly higher (36.0±10.0 vs. 29.0±10.1, t=4.491, P<0.01). Patients in robotic group experienced significantly shorter hospital stay, shorter time to first flatus, and defecation (t: -2.888, -2.946, -2.328, all P<0.05). Moreover, the overall peri-operative complication rate was similar between robotic and laparoscopic group (17.9% vs. 22.7%, χ²=0.596,P=0.465). The 3-year overall survival were 92.9% and 87.9% respectively and the 3-year disease-free survival rates were 83.1% and 82.6% with no statistical significance between the robotic and laparoscopic group (P>0.05). Conclusions: Compared to laparoscopic-assisted right hemicolectomy, robot-assisted right hemicolectomy could improve some short-term clinical outcomes. The two procedures are both achieving comparable survival.

Neutrophil-lymphocyte ratio and hypersensitive C-reaction protein are associated with miscarriage during the second trimester of pregnancy.

This study investigated whether biomarkers in the second trimester of pregnancy, including the white blood cell (WBC) count, neutrophil-lymphocyte ratio (NLR), hypersensitive C-reactive protein (hs-CRP) concentration, and procalcitonin (PCT) concentration, were associated with miscarriage during the second trimester of pregnancy. Sixty-two asymptomatic patients in their second trimester of pregnancy were included in the control group (group A). Among 67 patients diagnosed with late threatened miscarriage, 46 patients with ongoing pregnancy were included in group B and 21 patients with subsequent miscarriage were included in group C. The serum of these patients was collected and the biomarkers were analyzed. A paired-samples t-test was used for the comparison between the groups before and after the miscarriage. Statistical significance was set at p<0.05. Receiver operating characteristic curve (ROC) analysis was performed to evaluate the predictive value of different biomarkers for miscarriage during the second trimester of pregnancy. WBC count, neutrophil percentage, and hs-CRP levels were significantly higher in group C than in groups A and B (p<0.05). Lymphocyte percentage and albumin levels decreased significantly from group A to group C (p<0.05). In contrast, NLR increased significantly from group A to group C (p<0.05). There was a significant decrease in the WBC count, neutrophil percentage, hemoglobin concentration, and post-miscarriage NLR among the cases with miscarriage (p<0.05). The area under the curve of WBC count, NLR, hs-CRP, and the combination of these three factors for the prediction of late miscarriage varied from 78.0% to 82.6%. The combination of these three factors had the highest specificity of 91.1%, while hs-CRP had the highest sensitivity of 88.9%. WBC count, NLR, and hs-CRP levels are strongly associated with miscarriage during the second trimester of pregnancy, indicating that they are potential predictive biomarkers.

[A birth cohort study on the effect of chronotype during pregnancy on small for gestational age and the mediating effect of glucose-lipid metabolism].

Objective: To explore the relationship between maternal sleep time and the risk of small for gestational age (SGA), and to evaluate the role of glucose-lipid metabolism in the association. Methods: A total of 6 821 women who was second pregnancy were recruited from pregnancies consulted at Hefei First People's Hospital, Anhui Province Maternity & Child Health Hospital and the First Affiliated Hospital of Anhui Medical University from March 2015 to April 2019, and a face-to-face questionnaire survey was conducted to collect general demographic characteristics, dietary habits and routine lifestyles. Sleep information including bedtime, getup and sleep duration were reported by pregnant woman herself, and this survey as well as the third trimester of gestation. Pregnancy and birth outcomes were collected at delivery. A total of 5 488 mother-pairs with complete data were obtained in the final data. The non-linear relationship between chronotype and SGA risk was explored by restricted cubic spline regression model, and the role of glucose-lipid metabolism in the association between sleep midpoint and SGA was explored by using the mediating model based on bootstrap method. Results: The incidence of SGA was 8.4% (459/5 488) in eligible pregnant women. Compared with the pregnant women who went to bed before 21∶00, the risk of SGA of women who went to bed after 23∶00 am (OR=1.54, 95%CI: 1.01-2.34) was significantly higher in the multivariate logistic regression model. Additionally, the risk of SGA in pregnant women who got up after 8∶00 am was significantly higher than those women who got up before 8 o'clock (OR=1.31, 95%CI:1.05-1.62). However, the significant association between sleep duration and SGA was not found. In the restricted cubic spline regression, the risk of SGA was significantly increased from the specific midpoint of 02∶45 am (P<0.05). Moreover, mediation model showed that the negative effect of late sleep in the second trimester on SGA may be partially explained through glucose-lipid metabolism(all P<0.05). Conclusion: Maternal sleep status at the second trimester of gestation may be more susceptible to SGA. Lately sleep midpoint may be a potential independent risk factor for increased risk of SGA, and furtherly affect the occurrence of SGA by changing the level of glucose and lipid metabolism.

[Research progress of three-dimensional printed guides in unicompartmental knee arthroplasty].

Unicompartmental knee arthroplasty(UKA) is an important surgical technique for the treatment of end-stage knee osteoarthritis, which has high requirement for the position and angle of the prosthesis. The application of three-dimensional(3D) printed in UKA reflects several characteristics such as accuracy,efficiency and safety,but the current research results show that there is still lack of consistency in the design of 3D printed guides and the standard of prosthetic position parameters. This article reviews the history, manufacturing requirements and process of 3D printed guides during UKA surgery, as well as the results of current clinical research. Whether 3D printed guides can safely and effectively improve the placement accuracy of inexperienced doctors during UKA surgery,and whether the long-term results are worthy of clinical promotion need further verification.

The accuracy of bone mineral density measurement using dual-energy spectral CT and quantitative CT: a comparative phantom study.

AIM: To compare bone mineral density (BMD) measurement accuracy by dual-energy spectral computed tomography (CT) and quantitative CT (QCT) using an anthropomorphic European spine phantom (ESP). MATERIALS AND METHODS: An ESP containing three hydroxyapatite inserts with densities of 50, 100, and 200 mg/cm3 was scanned 10 times each using spectral CT and QCT protocols. Their BMD values were measured using hydroxyapatite-based spectral CT material decomposition images and QCT images and compared with the true values in ESP. RESULTS: Both protocols had good repeatability in BMD measurement with low coefficient-of-variance (spectral CT: <2.31%; QCT: <1.17%). There were biases in BMD measurement for the 50, 100, and 200 mg/cm3 hydroxyapatite insert with relative errors of 2.34% (48.83±1.13 mg/cm3), 2% (98±1.25 mg/cm3) and 5.96% (188.09±2.11 mg/cm3), in spectral CT, and 11% (55.5±0.65 mg/cm3), 9.85% (109.85±0.42 mg/cm3) and 4.04% (208.07±0.54 mg/cm3) in QCT, respectively. CONCLUSION: BMD can be accurately measured using either QCT or spectral CT, and spectral CT has smaller bias than QCT.

The inhibition of the breast cancer by PPARγ agonist pioglitazone through JAK2/STAT3 pathway.

Breast cancer, especially triple-negative breast cancer, is one of the deadliest cancers in women. To date, there is a lack of a good therapeutic regimen for it. PPARγ has been reported to be a tumor suppressor and could be activated by many agonists involved in cancer inhibition. Therefore, the expression of PPARγ in breast cancer was analyzed by online software UALCAN whose data were from the TCGA database. The results revealed that the PPARγ expression was reduced in breast cancer tissues. Furthermore, the methylation in the PPARγ promoter was also assayed and the results indicated that the methylation level in the PPARγ promoter in breast cancer tissue was higher than that in normal tissue. In order to verify the methylation in promoter involved in the regulation of gene PPARγ expression, the 5'-Aza and fluorescence assays were performed and the results proved that methylation in promoter participated in gene PPARγ expression regulation. Pioglitazone, a PPARγ agonist, still was not investigated in breast cancer. Therefore, the effects of pioglitazone on breast cancer cells were tested by cell viability, scratch and transwell assays, and results indicated that the pioglitazone has the inhibition effect on the proliferation and migration of breast cancer cells by PPARγ which was correlated with the JAK2/STAT3 pathway. In order to further confirm the inhibition effect of pioglitazone on breast cancer in vivo, the nude mice model was administrated by gavage with pioglitazone. And the results indicated that pioglitazone could inhibit the growth of breast cancer in the PPARγ overexpression group in vivo. In summary, the expression of gene PPARγ was decreased in breast cancer tissues, which was correlated with its methylation in the promoter region. Moreover, pioglitazone could exert its inhibition on breast cancer proliferation and migration by the JAK2/STAT3 pathway.

[Changes of retinal structure after systemic immunosuppressive treatment in eyes with Vogt-Koyanagi-Harada disease].

Objective: To assess structural changes in retina after systemic immunosuppressive treatment in Vogt-Koyanagi-Harada (VKH) disease using spectral-domain optical coherence tomography (SD-OCT). Methods: The clinical data of 17 VKH cases (34 eyes) who consecutively attended the Beijing Tongren Hospital between December 2015 and December 2019 were retrospectively reviewed. All the patients had acute or subacute onset, and underwent high-dose systemic corticosteroid and/or immunosuppressive treatment, with a followed-up time of at least 6 months. At the end of follow-up, the intraocular inflammation was controlled, and oral prednisone was withdrawn or being adjusted to less than 10 mg/day. The SD-OCT features of the included eyes were analyzed before treatment, 1 week, 1 month and 3 months after treatment, and at the last visit. Results: A total of 17 cases (34 eyes; 6 males and 11 females) were included, with an age of (42.2±10.6) years, and were followed up for (9.4±3.3) months. At 1 week after initiating treatment, the percentage of the eyes with extensive/multiple or multifocal retinal detachment in the macular region, membranous structures and intraretinal cysts, and undulations and bumps of retinal pigment epithelium (RPE) decreased (5.9% vs 100%, 2.9% vs 47.1%, 5.9% vs 70.6%, 11.8% vs 58.8%, respectively, all P<0.001). There was statistical significant difference of the percentage of ellipsoid zone and external limiting membrane (ELM) disruptions before treatment, at 3 months and the last visit (100% vs 35.3%, 64.7% vs 52.9%, 41.2% vs 26.5%, respectively, all P<0.001). At the last visit, there were statistical significant differences of the best corrected vision acuity (BCVA) between the intact ellipsoid zone group (20 eyes) and the discontinuous group (14 eyes), as well as between the intact ELM group (25 eyes) and the discontinuous group (9 eyes), respectively [0 (0, 0.05) vs 0.10 (0.03, 0.33) (log MAR), P=0.004; 0 (0, 0.07) vs 0.22 (0.05, 0.40) (log MAR), P=0.005]. Conclusions: The edema of choroid and retina subsided obviously at 1 week after initiating treatment. The extent of damage and recovery ability of ellipsoid zone and ELM were different before treatment, at 3 months and the last visit. At the last visit, the outer retinal layers failed to recover completely in some patients, and were related to the BCVA.

[Visualization of transcriptome data].

As an important method to study the phenotype and function of organisms, transcriptome has become one of hot topics in current research. The transcriptomics research usually accompanies with massive data. With the increase of the amount of data, the rules and features hidden in it are not easy to be found. Transforming big data into visual graphics is the most undoubtedly intuitive way to display the hidden information of big data. Several graphs commonly used in transcriptome study were introduced in this paper, such as Venn diagram, heat map, principal component analysis scatter plot, enrichment analysis plot, and time series analysis plot, in order to help readers to choose suitable graphics in future studies.

[Effects of comorbid gestational diabetes mellitus and depression on glucose metabolism during pregnancy and neonatal morphological outcome].

Objective: To estimate the effect of comorbid gestational diabetes mellitus (GDM) and depression on glucose metabolism and neonatal morphology. Methods: From March 2015 to October 2018, recruited 18 to 28 weeks pregnant women who met the criteria in the Hefei First People's Hospital or First Affiliated Hospital of Anhui Medical University or Anhui Maternal and Child Health Hospital, including a total of 4 380 study subjects, of which the birth outcome information of 3 827 newborns were collected. The self-made questionnaire "Maternal Health Questionnaire for Hefei City" and Edinburgh Postpartum Depression Scale were used to obtain basic demographic characteristics and emotional state of depression. Data from the 75-g oral-glucose-tolerance test were obtained at 24-28 weeks of gestation. After delivery, delivery outcome information were collected from the hospital medical records. Covariance analysis was used to analyze the differences in glucose metabolism indicators and neonatal outcome indicators in pregnant women with different GDM and depression status. Multiple logistic regression model was used to analyze the correlation between GDM and depression, with different groups of GDM and depression status (no GDM and depression, simple depression, simple GDM, comorbid GDM and depression)as independent variables and whether they were large for gestational age as dependent variables. The interaction between GDM and depression was also analyzed. Results: The 4 380 pregnant women were (28.8±4.2) years old. The incidence of GDM was 19.5% (852/4 380), and the detection rates of depression in the second and third trimesters were 12.1% (526/4 380) and 12.3% (536/4 367). PG-1h and AUC in the comorbid GDM and depression group were significantly higher than those in the group with no GDM and depression (P<0.05) and the single GDM group (P<0.05). After adjusting for factors such as the childbirth age, education level, family's main economic income, BMI before pregnancy, parity, number of physical activities, and weight gain during pregnancy, compared with the group with no GDM and depression, the RR(95%CI) of LGA occurred in the single depression group, the single GDM group and the comorbid group were 1.31(0.89-1.91), 1.51(1.14-2.00) and 2.43(1.29-4.57), respectively. Further analysis showed that the association between GDM pregnant women with depression and newborn LGA ï¼»RR (95%CI): 2.12 (1.01-4.49)ï¼½ was stronger than that between GDM pregnant women without depression and newborn LGA ï¼»RR (95%CI): 1.50 (1.12-1.99)ï¼½, the P interaction value was<0.05. Conclusion: The status of comorbid GDM and depression can impair glucose metabolism and increase the risk of LGA.

[A retrospective study of balloon pulmonary angioplasty for chronic thromboembolic pulmonary hypertension].

Objective: To analyze the efficacy and safety of Balloon Pulmonary Angioplasty (BPA) in patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH). Methods: A total of 38 CTEPH patients received at least one BPA treatment between February 2017 and April 2019 were enrolled. World Health Organization functional class(WHO-FC), 6-minute walking distance(6WMD), mean pulmonary artery pressure (mPAP), pulmonary vascular resistance(PVR), N-terminal pro brain natriuretic peptide(NT-proBNP) and echocardiographic indicators were collected at baseline and before each BPA procedure. Results: 38 patients received 95 times of BPA [ 2 (1, 4) times per person] totally. MPAP was 50 (43, 56) mmHg(1 mmHg=0.133 kPa) before BPA and 41(32, 50) mmHg after at least one BPA procedure, P<0.001. MPAP decreased from 50(42, 55) to 34(28, 49) mmHg (P=0.003) in 17 cases after 3-5 BPA procedures. In 15 cases, PVR decreased from 852(583, 1 140)dyn·s·cm-5 to 496(406, 802)dyn·s·cm-5, P=0.009. Besides, there were 13 patients with WHO Function Class Ⅰ/Ⅱ before BPA, 25 patients with Ⅲ/Ⅳ class before BPA, 29 patients with Ⅰ/Ⅱ class after BPA treatment, and 9 patients with Ⅲ/Ⅳ after BPA treatment, P<0.001. 6 WMD before and after BPA increased from 360(290, 442)m to 449(376, 505)m, P=0.015. The Meyer score of lung perfusion scanning got improved, from 0.54(0.53, 0.58) to 0.50(0.44, 0.58), P<0.001. Among all registered patients, 21 of whom NT-proBNP decreased from 1 285(606, 2 794) to 472(148, 745), P=0.014. The inner diameter of the right ventricular decreased from 54(41, 54)mm before surgery to 42(34, 49)mm after surgery, P<0.001. 6(6.3%, 6/95) complications occurred in 95 times of BPA. Conclusion: For inoperable patients with CTEPH, BPA can significantly improve disease severity, 6 MWD, heart function, decrease mPAP, PVR and improve lung perfusion, which is a safe and effective therapy.

[Advances in supercooling liver preservation].

Liver transplantation is currently the only effective treatment for end-stage liver disease. The preservation of donor liver before transplantation is important. But both traditional static cold storage and machine perfusion are limited by the preservation time, so that the allotment space of donor liver is limited, which inevitably leads to the abandonment of part of donor liver.At present, to find a preservation technology that not only guarantees the quality of donor liver but also has a longer effective preservation time is the direction of joint efforts of all clinicians. Supercooling liver preservation(SLP) to find a preservation technology that not only guarantees the quality of donor liver but also has a longer effective preservation time is the direction of joint efforts of all clinicians. SLP, a new method based on using cryoprotectants to keep donor liver under -6 ℃ and recovering the graft with subnormothermic machine perfusion that enables long-term transplantation survival following 4 days of liver preservation, made a revolutionary breakthrough in the field of liver preservation, carved out a new field for the research of liver preservation. This article reviews the latest experimental research progress of SLP in the field of liver transplantation.

[Situation of coal dust hazards and its damage of pulmonary function of a large-scale coal mine enterprise of Shanxi province].

Objective: To investigate the status of coal dust hazard classification and lung function damage in a large coal mine in Shanxi Province. Methods: From January to June in 2019, 51 coal dust posts and 598 workers exposed to coal dust were selected from a large coal mine enterprise in Shanxi Province. The coal dust (exhaled dust) samples were collected and tested, and the hazard classification index of coal dust (exhaled dust) was calculated. The jobs exposed to coal dust (exhaled dust) were divided into relatively harmless, mild, moderate and severe hazard posts, and the corresponding workers were divided into relatively harmless group, mild, moderate and severe hazard groups. The forced expiratory volume (FEV1) , forced vital capacity (FVC) and forced expiratory volume/forced vital capacity (FEV1/FVC) in the first second were measured. Spearman rank correlation method was used to analyze the relationship between the hazard grade of coal dust and lung function. Results: Among 51 coal dust (exhalation) posts, 13 coal dust (exhalation dust) exceeded the standard (25.5%) . 168 cases (34.78%) had abnormal pulmonary function. Compared with the relatively harmless group, the proportion of abnormal pulmonary function of workers in mild, moderate and severe hazard groups were higher, FEV1, FVC, FEV1/FVC values were lower, the differences were statistically significant (P<0.05) . The rank of coal dust (exhaled dust) was negatively correlated with FEV1, FVC and FEV1/FVC (P<0.01) . Conclusion: Attention should be paid to the supervision and management of relatively harmless and slightly harmful coal dust posts. FVC may be one of the lung function indexes sensitive to coal dust exposure.

Molecular cloning and functional characterisation of duck (Anas platyrhynchos) tumour necrosis factor receptor-associated factor 3.

1. Tumour necrosis factor receptor-associated factor 3 (TRAF3) is a key regulator of innate immunity and acquired immunity, and has a salient anti-viral role. 2. In this experiment, the duck TRAF3 (DuTRAF3) gene was cloned according to the Anas platyrhynchos TRAF3 sequence to explore its function. The TRAF3 open reading frame contains 1704 bp that encode a protein of 567 amino acids, which contain a RING finger domain, two zinc finger motifs, a coiled-coil region, and a MATH domain. 3. Reverse transcription-polymerase chain reaction showed that DuTRAF3 was expressed in all the examined tissues, with a comparatively higher expression in the spleen and brain tissues. 4. In HEK293T cells, DuTRAF3 overexpression resulted in a significantly increased NF-κB activity and interferon (IFN)-ß promoter activation. 5. Following resiquimod (R848) and poly(I:C) stimulation of duck peripheral blood mononuclear cells (PBMCs), the expressions of TRAF3 and IFN-ß were significantly upregulated; in addition, following R848 stimulation, the mRNA levels of IL-6, IL-8 and IL-10 were also significantly upregulated. After infection with the Newcastle Disease Virus LaSota vaccine strain, the mRNA levels of IL-6 and IL-10 were significantly upregulated, while that of TRAF3 was downregulated. 6. These results suggest that DuTRAF3 has an important role to play in innate antiviral immune responses.

[The value of MRI in early diagnosis of dysbaric osteonecrosis].

Objective: To investigate the value of MRI in the early diagnosis of diagnosis of dysbaric osteonecrosis. Methods: Labor hygiene investigation and occupation health were examined on 52 high pressure operating personnel, were selected for the examination of both shoulders, hips and knees with X-ray and CT scan. Results: The cystic sign in dysbaric osteonecrosis as an important imaging feature, which perform in the MRI examination for T1W I sequence showed low or slightly low signal and T2W I sequence showed high signal, and X-ray and CT have a lower detection rate than MRI. The Kappa consistency test showed a high consistency with the two methods. At the same time MRI examination also can discover the bone marrow cavity necrosis early pathological change. Conclusion: MRI is an effective method for the diagnosis of early dysbaric osteonecrosis, which can improve the early diagnosis rate of dysbaric osteonecrosis.

Immunomagnetic separation combined with colony immunoblotting for selective enrichment and detection of piliated Lactobacillus rhamnosus strains.

AIMS: Piliated Lactobacillus rhamnosus (pLR) strains have attracted much attention owing to their excellent mucus adhering capacity and immunomodulatory effects. Here, we aimed to develop a rapid, sensitive method for isolating pLR strains in complex ecosystems using immunomagnetic separation (IMS) with colony immunoblotting (CIB). METHODS AND RESULTS: Magnetic nanobeads (diameter: 180 nm) conjugated with anti-pLR SpaA pilin antibodies (anti-SpaA) were prepared and used to preconcentrate pLR strains in samples, followed by confirmation with anti-SpaA-based CIB analysis. Under optimized experimental conditions, IMS-CIB selectively recovered pLR strains from 107  CFU ml-1 of faecal microbiota samples spiked with 2·9 × 101 to 2·4 × 106  CFU ml-1 of pLR strains. No positive colonies were detected in samples without addition of pLR strains. The detection limit of IMS-CIB was 29 CFU pLR ml-1 of faecal microbiota, which is much lower than that of CIB without IMS preconcentration (2·0 × 104  CFU ml-1 ). CONCLUSIONS: IMS-CIB allowed selective preconcentration of pLR strains in highly heterogeneous bacterial suspensions and direct detection of pLR colonies, which remained readily available for subsequent isolation. SIGNIFICANCE AND IMPACT OF THE STUDY: Our findings established an effective method for selective enrichment and detection of pLR strains.

Relation between therapy options for Graves' disease and the course of Graves' ophthalmopathy: a systematic review and meta-analysis.

BACKGROUND: The relation between therapy options for Graves' disease (GD) and the course of Graves' ophthalmopathy (GO) are still controversial. Our aim was to compare the occurrence of development or worsening of GO in patients who were treated with antithyroid drugs (ATDs) or radioactive iodine (RAI) or thyroidectomy (TX). METHODS: We conducted a comprehensive search of the Embase and PubMed database. Odds ratio (OR) was used as a measure of the effect of therapy options for GD on the risk of development or worsening of GO. The analysis was further stratified by factors that could affect the treatment effects. RESULTS: Nine trials involving 1773 patients were included. RAI therapy showed a significant effect on the risk of development or worsening GO compared with ATD (OR 2.25; 95 % CI 1.61-3.14; P < 0.00001). Glucocorticoid prophylaxis was effective in preventing GO development or worsening (0.40; 0.23-0.68; P = 0.002); especially for patients with preexisting GO (0.41; 0.23-0.73; P = 0.002). At 3 months, showed GO to be improved in 17 TX and 21 total thyroid ablation (TTA) patients, with no significant difference between the two groups; between 6 and 12 months, TTA did show significant beneficial effect on the improvement of GO (6.02; 2.80-12.96; P < 0.00001); GO was found to be inactive in a significantly higher percentage of patients in the TTA (2.17; 1.04-4.52; P = 0.04). CONCLUSION: Radioiodine therapy is a significant risk factor for development or worsening of GO in GD. But GO progression can be prevented by prophylactic glucocorticoids in patients with preexisting GO. Compared with TX alone, TTA induces an earlier and steadier GO improvement in patients with mild to moderate-severe and active GO. Whether this is sufficient to offer TTA to patients needs further investigation.

Analysis of persistent changes to γ-aminobutyric acid receptor gene expression in Plutella xylostella subjected to sublethal amounts of spinosad.

A multi-generational approach was used to investigate the persistent effects of a sub-lethal dose of spinosad in Plutella xylostella. The susceptibility of various sub-populations of P. xylostella to spinosad and the effects of the insecticide on the gene expression of γ-aminobutyric acid receptor (GABAR) were determined. The results of a leaf dip bioassay showed that the sensitivity of P. xylostella to spinosad decreased across generations. The sub-strains had been previously selected based on a determined LC25 of spinosad. Considering that GABA-gated chloride channels are the primary targets of spinosad, the cDNA of P. xylostella was used to clone GABARα by using reverse transcription-polymerase chain reaction (RT-PCR). The mature peptide cDNA was 1477-bp long and contained a 1449-bp open reading frame encoding a protein of 483 amino acids. The resulting amino acid sequence was used to generate a neighbor-joining dendrogram, and homology search was conducted using NCBI BLAST. The protein had high similarity with the known GABAR sequence from P. xylostella. Subsequent semi-quantitative RT-PCR and real-time PCR analyses indicated that the GABAR transcript levels in the spinosad-resistant strain (RR, 145.82-fold) and in Sub1 strain (selected with LC25 spinosad for one generation) were the highest, followed by those in the spinosad-susceptible strain, the Sub10 strain (selected for ten generations), and the Sub5 strain (selected for five generations). This multi-generational study found significant correlations between spinosad susceptibility and GABAR gene expression, providing insights into the long-term effects of sub-lethal insecticide exposure and its potential to lead to the development of insecticide-resistant insect populations.

Effect of weaning age on cortisol release in piglets.

The effect of weaning age on the adrenal cortex, which plays a vital role in the stress response, is currently unknown. Therefore, plasma adrenocorticotropic hormone (ACTH) and cortisol levels, weights and relative weights of adrenal glands, and steroidogenesis-related protein and enzyme expression levels in piglets weaned on different days were determined. Piglets weaned at 35 days had significantly lower ACTH levels than those weaned at 14 or 21 days, and cortisol levels of piglets weaned at 21, 28, and 35 days were significantly lower than those of piglets weaned on day 14. Adrenal gland weights of piglets weaned at 28 and 35 days and relative adrenal gland weights of piglets weaned at 35 days were significantly lower than those of piglets weaned at 14 days. However, no significant difference was detected in the expression of melanocortin-type 2 receptor mRNA, which is associated with weaning age. Steroidogenic acute-regulatory (StAR) mRNA and cholesterol side-chain cleavage cytochrome P450 mRNA expression levels in piglets weaned at 28 and 35 days were significantly lower than in those weaned at 14 or 21 days, and P450 11ß mRNA expression levels in piglets weaned at 28 and 35 days were significantly lower than in those weaned at 14 days. Therefore, early-weaned piglets exhibited increased adrenal gland weights and StAR and steroidogenic enzyme expression, all of which contributed to high cortisol levels. The high plasma ACTH and cortisol levels in early-weaned piglets indicate that these animals would be greatly affected by stress.