[Postoperative lymph node metastasis status and related factors in patients with early-stage, low-risk endometrial cancer assessed by the Mayo criteria].

Objective: To investigate the postoperative lymph node metastasis status and related factors of patients with early-stage low-risk endometrial cancer evaluated by the Mayo criteria in order to make the preoperative evaluation more accurate. Methods: A total of 172 patients with early-stage low-risk endometrial cancer who underwent surgery in Sichuan Provincial Cancer Hospital from 2009 to 2018 and were evaluated as early low-risk according to the "Mayo criteria" were retrospectively enrolled, and were divided into lymph node metastasis group (7 cases) and non-metastasis group (165 cases) according to the results of postoperative pathological examination. The postoperative pathological examination results and prognosis of all patients were collected. The lymph node metastasis of the two groups was analyzed. The multiple logistic regression model was used to analyze the related factors of lymph node metastasis, and the area under the curve (AUC) of the relevant factors was calculated by using the receiver operating characteristic curve to predict the postoperative lymph node metastasis of patients. Results: The age of 172 patients was (53.0±8.6) years, and the follow-up [M(Q1,Q3)] was 64.1 (46.2, 91.4) months, among whom 2 relapsed and 1 died. Among the 7 patients with lymph node metastasis, 5 cases had pelvic lymph node metastasis, 1 case had pelvic lymph union and abdominal para-aortic lymph node metastasis, 1 case had isolated abdominal para-aortic lymph node metastasis, 3 cases had two lymph node metastases, and 4 cases had intrailiac lymph nodes being the most common metastasis site. Multivariate analysis showed that preoperative serum cancer antigen (CA) 125 was the relevant factor for postoperative lymph node metastasis, with an OR value (95%CI) of 1.022 (1.001-1.043) (P=0.042), with AUC (95%CI) of CA125 predicting lymph node metastasis of 0.850 (0.761-0.939) (P=0.002), and the optimal cut-off value of CA125 was 29.305 U/ml with the sensitivity of 85.7% and the specificity of 80.6%. Conclusions: When CA125>29.305 U/ml, patients with early-stage low-risk endometrial cancer assessed by the Mayo criteria, had an increased risk of lymph node metastasis. Therefore, adding preoperative serum CA125 level as an evaluation index on the basis of the classic "Mayo criteria" may help conduct more accurate preoperative evaluation and better identify early-stage low-risk EC patients.

[Analysis of factors related to the prognostic benefit of neoadjuvant chemotherapy followed by interval debulking surgery in patients with advanced ovarian cancer].

Objective: To explore the prognostic factors of patients with advanced epithelial ovarian cancer (EOC) who received neoadjuvant chemotherapy (NACT) followed by interval debulking surgery (IDS). Methods: The clinical and pathological data of patients with stage Ⅲc-Ⅳ EOC underwent surgical treatment in Sichuan Cancer Center from January 1st, 2014 to December 31th, 2018 were retrospectively analyzed, and the prognosis was followed up. Results: (1) A total of 216 EOC patients were included in the study, whose age was (52.1±8.7) years old, the median follow-up time was 44.6 months (17.2-80.1 months), the median progression free survival (PFS) was 11.1 months (8.5-13.8 months), and the median overall survival (OS) was 40.0 months (32.7-47.3 months). (2) Among 216 patients with advanced EOC, there were 75 cases in the primary debulking surgery (PDS) group and 141 cases in the NACT+IDS group. Compared with the PDS group, the serum CA125 level before treatment (median: 859.4 vs 1 371.0 kU/L), proportion of stage Ⅳ patients [5.3% (4/75) vs 23.4% (33/144)] and no visible residual disease (R0) cytoreduction rate in the NACT+IDS group were significantly higher [(41.3% (31/75) vs 61.7% (87/144); all P<0.05]. The median PFS in the NACT+IDS group was significantly shorter than that of the PDS group (9.1 vs 15.2 months; χ2=7.014, P=0.008), but there was no significant difference in the median OS between the two groups (42.6 vs 38.0 months; χ2=1.325, P=0.250). (3) Univariate analysis showed that body mass index (BMI), preoperative serum CA125 level, surgical-pathological stage, NACT effect, postoperative residual tumor size, time to initiation of postoperative chemotherapy and chemotherapy regimen were significantly correlated with PFS in the NACT+IDS group (all P<0.05); preoperative serum CA125 level, surgical-pathological stage, NACT effect, postoperative residual tumor size, postoperative chemotherapy regimen were significantly related with OS in the NACT+IDS group (all P<0.05). Multivariate analysis showed that BMI, postoperative residual tumor size, time to initiation of postoperative chemotherapy were independent factors of PFS in the NACT+IDS group (all P<0.05); preoperative serum CA125 level, surgical-pathological stage, postoperative residual tumor size were independent factors of OS in the NACT+IDS group (all P<0.05). The results showed that the PFS of patients with normal preoperative serum CA125 level and (or) chemotherapy ≤7 days after IDS was longer, while no significant difference comparable with those in the PDS group (P>0.05), and OS was also showing an prolonged trend, but the difference was also not statistically significant (P>0.05). Conclusions: Normal CA125 before IDS and time received chemotherapy no longer than 7 days after IDS are two related factors of prognosis benefit in advance EOC patients treated with NACT+IDS. Therefore, timely adjustment of the dose and regimen of NACT to reduce CA125 level to normal range in about three cycles before IDS, and strengthen IDS perioperative management to promote postoperative recovery and perform chemotherapy as soon as possible might help to improve the prognosis of patients.

EFFECT OF PUERARIN ON THE PROLIFERATION AND DIFFERENTIATION OF OSTEOBLASTS AND THE EXPRESSION OF TYPE I COLLAGEN mRNA IN A HIGH-GLUCOSE ENVIRONMENT.

OBJECTIVE: To investigate the effect of puerarin (Pue) on the proliferation and differentiation of osteoblasts and the expression of type I collagen(Coll I) mRNA in a high-glucose (HG) environment, and to provide evidence for the clinical treatment of diabetic osteoporosis(DOP). SUBJECTS AND METHODS: The proliferation of osteoblasts from three groups - the control group, the HS group, and the HG+Pue (10-8-10-6 M) group - was cultivated for 72 h and evaluated using the methyl thiazolyltetrazolium (MTT) assay. RESULTS: The MTT values and the ALP activities in all experimental groups were significantly lower than those in the control group, and the MTT values and the ALP activities in the HG+Pue group were significantly higher than those in the HS group. Coll I mRNA expression in all experimental groups was significantly lower than that in the control group, while that in the HG+Pue group was significantly higher than that in the HG group. CONCLUSIONS: The proliferation and differentiation of osteoblasts and the expression of Coll I mRNA were inhibited by high glucose, but Pue can increase the proliferation and differentiation as well as the expression of Coll I mRNA in the osteoblasts, indicating that Pue could be therapeutically beneficial against DOP.

Upregulation of caspase-3 by high glucose in chondrocyte involves the cytoskeleton aggregation.

OBJECTIVE: The hyperglycemic environment of diabetes promotes chondrocyte (CH) apoptosis and is closely related to the occurrence and development of osteoarthritis (OA). This present study aimed to elucidate the relation between the cytoskeleton and the caspase-3 expression of human CHs in high glucose in vitro. PATIENTS AND METHODS: We used different concentrations of glucose medium to test the effect of glucose on the CHs viability. Cytochalasin D and colchicine were used to prevent the aggregation of F-actin and ß-tubulin. Besides, Z-DEVD-FMK (ZDF) or Apoptosis Activator 2 was used to inhibit or activate the caspase-3 expression. The intensity of F-actin and ß-tubulin, cell viability, apoptosis, and caspase-3 expression were analyzed. RESULTS: Three days of treatment of 30 mM or 40 mM glucose significantly decreased the CHs viability compared to the 10 mM but increased the caspase-3, apoptosis, collagen, and the aggregation of the F-actin and ß-tubulin. However, the cytochalasin D and colchicine partly rejected the high-glucose induced caspase-3 upregulation, apoptosis, and CHs disability. Besides, these two anti-aggregation drugs also suppressed the Apoptosis Activator 2 induced caspase-3 upregulation and apoptosis. Furthermore, the application of ZDF could only prevent the F-actin aggregation, but not the ß-tubulin. CONCLUSIONS: Long-term high glucose triggers the caspase-3 expression and leads to the CH apoptosis involving cytoskeleton aggregation. Inhibition of cytoskeleton aggregation through the F-actin or ß-tubulin could alleviate the high glucose-induced caspase-3 upregulation.

Molecular characteristics of MC1R gene in tile-grey plumage of domestic chicken.

1. Tile-grey plumage is a unique and rare feather type of local chicken breeds in China, but its genetic mechanism and corresponding genes remain unknown. 2. In order to identify the genetic basis and molecular characteristics of tile-grey plumage, this experiment investigated variations of melanocortin 1 receptor (MC1R) gene in Yunnan Piao chickens with typical tile-grey plumage characteristics in contrast with three Yunnan local breeds as well as two standard breeds with different plumage colour, and analysed the association between genic variation and tile-grey plumage. 3. Through sequencing and comparison of the entire coding region of the MC1R gene, a total of 10 SNP loci were detected, of which eight were non-synonymous mutations that cause amino acid changes. The gene frequency and genotype frequency of the MC1R mutation sites in different breeds and different plumage colour groups revealed that C69T, T212C and A274G were significantly associated with tile-grey plumage. Eighteen haplotypes of the MC1R gene were constructed based on 10 nucleotide variations and eight amino acid variations. Haplotype distribution and the median joining network in breeds and plumage colour groups revealed a main haplotype (hap2) for tile-grey plumage. Hap2 is unique to the tile-grey feather of Piao chicken, and the individuals carrying this haplotype account for 62.96% of the whole tile-grey chicken. 4. The results of this study are of significance for further analysis of the molecular basis of tile-grey plumage and the selective breeding of tile-grey plumage.

[Comparison of posterior fossa decompression with and without duraplasty for surgical management for adult Chiari malformation type â ].

Objective: To evaluate and compare the efficacy between posterior fossa decompression without duraplasty (PFD) and posterior fossa decompression with duraplasty (PFDD) in the surgical management for adult Chiari Ⅰ malformation. Methods: Fifty-seven patients suffered from Chiari malformation type Ⅰ were treated in Department of Neurosurgery, Henan Provincial People's Hospital from August 2008 to October 2013. Twenty-three patients received posterior fossa decompression without duraplasty and the other 34 patients received posterior fossa decompression with duraplasty. The clinical results were retrospectively analyzed to compare the efficacy of two different surgical approaches. Results: There was no death or severe neurological dysfunction case in 57 patients of the two groups. Patients undergoing PFD had shorter length of hospital stay[(13.7±3.5) d vs (16.2±4.1) d, P<0.05]and surgical time[(98.7±22.1) min vs (132.3±39.6)min, P<0.05]. Cerebrospinal fluid-related complications and intracranial infection were more common in patients undergoing PFDD[(0/23, 0) vs (8/34, 23.5%), P<0.05]. Clinical improvement was comparable in two groups[(15/23, 65.2%) vs (26/34, 76.5%), P>0.05]at the one-year follow-up. The rate of syrinx regression in patients with Syringomyelia was higher in patients undergoing PFDD[(3/12, 25%) vs (17/22, 77.3%), P<0.05]. Conclusion: For adult patients with Chiari malformation type Ⅰ, PFD has the advantages of simple manipulation, short length of hospital stay and low incidence of cerebrospinal fluid-related complications and intracranial infection, compared with PFDD. It is comparable to PFDD in clinical improvement, but the effect of PFD is not as good as that of PFDD in the aspect of syrinx regression.

Circulating microRNA-137 is a potential biomarker for human glioblastoma.

OBJECTIVE: In this study, we investigated whether circulating microRNA-137 (miR-137) could be a potential biomarker for patients with glioblastoma (GBM). PATIENTS AND METHODS: Serum samples were collected from 64 GBM patients and 64 healthy controls. The expression level of circulating miR-137 was compared by quantitative RT-PCR. Among GBM patients, circulating miR-137 was compared between patients at early stages and those at advanced stages. Also, the correlations of serum miR-137 expression with clinicopathological features and overall survival of GBM patients were statistically examined. Furthermore, whether circulating miR-137 could serve as an independent predicting biomarker GBM patients' survival was assessed. RESULTS: Serum miR-137 was downregulated in GBM patients than in healthy controls. It was further downregulated in GBM patients at advanced stages than in patients at early stages. Statistical analysis demonstrated that low serum miR-137 level was strongly correlated with patients' clinical grades (p = 0.003) and KFS (p = 0.002). Low serum miR-137 was also found to be significantly correlated with, and may predict poor survival in GBM patients. CONCLUSIONS: Downregulated serum miR-137 may be a potential non-invasive prognostic biomarker for poor prognosis in GBM patients.

Size of bone flap and bone window area may impact the outcome of decompressive craniectomy using standard bone flap.

OBJECTIVE: To verify if the size of the bone flap and the bone window area may have an impact on the outcome of decompressive craniectomy. PATIENTS AND METHODS: From February 2012 to February 2014, 42 patients with acute intracranial hypertension were enrolled in this study. We conducted standard craniotomy and decompressive hemicraniectomy on all patients. The intracranial pressure was measured before the hemicraniectomy operation, at the time of bone flap removal, at the time of the incision of the dura mater and 24 hours after the operation. RESULTS: Intracranial pressure readings at the time of bone flap removal, incising dura mater and 24 hours postoperation were significantly lower than the pressure measured before the operation. The highest pressure was recorded at the time of the dura mater incision followed by pressure recorded at 24 hours post-operation and at the time of bone flap removal. The lowest pressure was recorded during the preoperative period. Postoperative GOSE and GCS scores were significantly higher than those scores recorded before the operation. A positive correlation between the diameter of the bone disc and the amount of drop in pressure at 24 h post-operation was detected. Also, the bone window area showed a positive correlation with the amount of drop in pressure at 24 h post-operation. CONCLUSIONS: The bone flap decompressive craniectomy is safe and effective, and the depressurizing range has a positive correlation with the diameter of the bone disc and the area of the bone window.

[Surgical treatment of ventriculoperitoneal shunt guided by ultrasound to the patients with idiopathic intracranial hypertension].

OBJECTIVE: To investigate the clinical efficacy of ventriculoperitoneal shunt treatment to patients with idiopathic intracranial hypertension. METHODS: The clinical data of 32 patients with idiopathic intracranial hypertension who were admitted to Henan Provincial People's Hospital from August 2011 to February 2014 were collected.The underlying diseases included occlusion of the superior sagittal sinus (2 cases) and occlusion of transverse sinus (2 cases), and all 4 cases had a history of chronic otitis media.Twenty eight cases, with a history of oral contraceptive drugs (2 cases) and unclear etiology (26 cases), had normal venous sinus confirmed by imaging examination.All of 32 patients underwent ventriculoperitoneal shunt. RESULTS: The symptoms of 32 patients such as headache, nausea, and vomiting were relieved obviously after surgery.The symptom of visual impairment of 31 cases got better in varying degrees except that 1 case went blind before operation.Besides 2 cases of loss of follow-up, the remaining 30 cases were followed up for 2 years.Thirty cases had no perioperative infection.One case had infection 1 year after operation.No one had the shunt tube blockage. CONCLUSIONS: Patients with idiopathic intracranial hypertension should be taken active surgical treatment when drug therapy fails and could obtain satisfactory clinical curative effect by accepting treatment of ventriculoperitoneal shunt.By intraoperative ultrasound guiding lateral ventricle puncture can be achieved accurately.

[The causes and strategies for intraoperative rupture during clipping the anterior circulation aneurysms].

OBJECTIVE: To investigate the causes and strategies for intraoperative rupture during clipping the anterior circulation aneurysms. METHODS: Nineteen patients with anterior circulation aneurysms ruptured during clipping, who admitted to the Department of Neurosurgery, Henan Provincial People's Hospital from November 2012 to February 2014, were enrolled. Their clinical data were analyzed retrospectively to summarize the causes and strategies for intraoperative rupture. RESULTS: The aneurysms ruptured during predissection in 2 cases (10.5%), during dissection in 11 cases (57.9%) and during clip application in 6 cases (31.6%). There was no residual aneurysm confirmed by postoperative CTA in 17 patients. One case with posterior communicating artery aneurysm cannot be clipped because of the serious avulsion of the aneurysm neck during clipping. The aneurysm was trapped and the patient paralysed on one side after operation. One case died postoperative 8 days because of severe cerebral edema, whose aneurysm ruptured during predissection. The Glasgow Outcome Scale (GOS) of three months after operation showed good recovery in 11, moderate recovery in 5, severe disability in 2, and death in 1 cases, respectively. CONCLUSION: Adequate preoperative evaluation for the risk factors of intraoperative rupture and excellent microsurgical techniques can prevent intraoperative rupture of intracranial aneurysms. Controlling the bleeding quickly and dissecting and clipping the aneurysm after definitely know the anatomy of the aneurysm and surrounding vasculature could be the keys to deal with intraoperative aneurysm rupture.

[Exploratory and confirmatory factor analyses for testing validity and reliability of the Chinese language questionnaire for urinary incontinence diagnosis].

OBJECTIVE: To translate questionnaire for urinary incontinence diagnosis (QUID) into Chinese and to test its reliability and validity. METHODS: The English version of QUID was translated into Chinese. The clinaical data of 95 patinents with urinary incontinence who were test by urinary dynamic study in Peking Union Medical College Hospital from May 2014 to May 2015 were analyzed prospectively. The reliability of QUID was evaluated by completing QUID twice. The validity of QUID was evaluated by the standard of urinary dynamic study. RESULTS: Internal consistency (Cronbach α) of the items that pertained to stress urinary incontinence (SUI) and to urge urinary incontinence (UUI) were 0.91 and 0.89, respectively. Test-retest reliability (Kappa) was 0.795 and criterion validity (Kappa) was 0.62. Sensitivity and specificity were 83% (43/52) and 86% (37/43), respectively, for SUI, and 72% (13/18) and 86% (66/77), respectively, for UUI. CONCLUSIONS: QUID has good reliability and validity. It could be used in Chinese urinary incontinence women.

[Prevention strategies for surgical complications of sphenoid wing meningiomas].

OBJECTIVE: To explore the prevention strategies for surgical complications of sphenoid wing meningiomas. METHODS: A total of 76 cases of sphenoid wing meningiomas were included from The People's Hospital of Henan Province from 2011 to 2014. Based on the preoperative imaging data, the patients were divided into 28 cases of lateral type, 16 cases of middle type and 32 cases of medial type. According to the different characteristics of different types of sphenoid wing meningiomas, appropriate preoperative, intraoperative and postoperative measures to prevent complications were carried out. RESULTS: A total of 2 cases of facial nerve injury occurred in 28 cases with lateral type; 1 case of intraoperative subarachnoid hemorrhage and brain swelling occurred in 16 cases with middle type; 3 cases of oculomotor nerve damage, 1 case of optic nerve injury and 4 cases of vascular injury occurred in 32 cases with the medial type. The total incidence of complications was 14.5% (11/76). CONCLUSION: Detailed preoperative planning according to the characteristics of different types of sphenoid wing meningiomas, intraoperative use of microsurgery and Cavitron Ultrasonic Surgical Aspirator (CUSA), following the principle of in situ removal, controlling the extent of resection of tumor adhering to cavernous sinus and the great vessels, the severe surgery complications of sphenoid wing meningiomas can be reduced.

Association of PELI1 polymorphisms in systemic lupus erythematosus susceptibility in a Chinese population.

OBJECTIVE: Studies in animal models have indicated that Pellino 1 is involved in inflammatory and autoimmune diseases, such as systemic lupus erythematosus (SLE). The current study was designed to determine whether PELI1 confers genetic susceptibility to SLE in humans, as assessed in a Chinese Han population. METHODS: Blood samples were drawn from patients diagnosed with SLE and healthy volunteers. Three single nucleotide polymorphism (SNP) loci with a minor allele frequency of at least 0.05 were chosen to evaluate the correlation between PELI1 genotype and the incidence of SLE. RESULTS: There was a significant difference in the frequency distribution of the rs329497 allele between the SLE patients and the healthy controls (A vs. G; Bonferroni corrected p = 0.036, odds ratio = 0.75, 95% confidence interval = 0.60-0.94). No differences in the genotype and allele frequencies of other SNP loci were observed between the two groups. Furthermore, the alleles and genotypes of the three SNPs were not associated with lupus nephritis. CONCLUSION: In the Chinese Han population, PELI1 SNPs may be associated with SLE susceptibility.

Promoter hypomethylation and increased maspin expression in preeclamptic placentas in a Chinese population.

OBJECTIVE: Preeclampsia is thought to begin with shallow trophoblast invasion and inadequate spiral artery remodeling. Maspin, a tumor-suppressor gene, plays a regulatory role in trophoblast invasion and motility. The tissue-specific methylation of the maspin promoter can regulate maspin gene expression in various cancers. We sought to detect maspin gene expression and assess the degrees of methylation of maspin promoter regions in preeclamptic placentas in the Han Chinese population and to investigate the potential role of maspin in the pathophysiology of preeclampsia. METHODS: We conducted RT-PCR, immunohistochemistry and western blotting to characterize maspin gene expression and protein levels in the placentas from normal and preeclamptic pregnancies. Finally, using methylation-specific PCR and bisulfite sequencing PCR, we detected the degrees of methylation of the promoter regions of maspin in each of the two studied groups. RESULTS: Maspin expression was increased at the mRNA and protein levels in the preeclamptic placentas compared to the control group. Maspin immunohistochemical staining revealed positive staining in the syncytio-cytotrophoblast layers and more diffuse staining in the preeclamptic group. The mean methylation level of the analyzed promoter region was significantly hypomethylated in the preeclamptic placentas compared to the control placentas, pointing to a negative relationship between maspin promoter methylation and gene expression. DISCUSSION: Hypomethylation of the maspin promoter results in increased expression of maspin in preeclamptic placentas, which suggests a negative relationship between maspin methylation and maspin expression in this Han Chinese population. Thus, maspin is likely involved in the etiology of preeclampsia.

Coupled Skyrmion sublattices in Cu(2)OSeO(3).

We report the observation of a Skyrmion lattice in the chiral multiferroic insulator Cu2OSeO3 using Cu L3-edge resonant soft x-ray diffraction. We observe the unexpected existence of two distinct Skyrmion sublattices that arise from inequivalent Cu sites with chemically identical coordination numbers but different magnetically active orbitals. The Skyrmion sublattices are rotated with respect to each other, implying a long wavelength modulation of the lattice. The modulation vector is controlled with an applied magnetic field, associating this moirélike phase with a continuous phase transition. Our findings will open up a new class of science involving manipulation of quantum topological states.

Isolation of a rice endophytic bacterium, Pantoea sp. Sd-1, with ligninolytic activity and characterization of its rice straw degradation ability.

UNLABELLED: This study focused on an endophytic bacterial strain, Pantoea sp. Sd-1, which can be used to degrade lignin and rice straw. This strain was isolated from rice seeds by an optimized surface sterilization method. Pantoea sp. Sd-1 showed exceptional ability to degrade rice straw and lignin. In rice straw or kraft lignin-containing medium supplemented with 1% glucose and 0.5% peptone, Pantoea sp. Sd-1 effectively reduced the rice straw mass weight by 54.5% after 6 days of treatment. The strain was also capable of reducing the lignin colour (52.4%) and content (69.1%) after 4 days of incubation. The findings suggested that the rice endophytic bacterium Pantoea sp. Sd-1 could be applied for the degradation of lignocellulose biomass, such as rice straw. SIGNIFICANCE AND IMPACT OF THE STUDY: Rice straw, an abundant agricultural by-product in China, is very difficult to degrade because of its high lignin content. Due to the immense environmental adaptability and biochemical versatility of bacteria, endophytic bacteria are useful resources for biodegradation. In this study, we screened for endophytic bacteria capable of biodegrading rice straw and lignin and obtained one strain, Pantoea sp. Sd-1, with suitable characteristics. Sd-1 could be used for degradation of rice straw and lignin, and may play an important role in biodegradation of this agricultural by-product.

Haplotypic variation and characteristics across the toll-like receptor 3 locus in chickens.

Toll-like receptor 3 (TLR3) has an important protective function against viral infection. The ability of an individual to respond properly to TLR ligands may be impaired by variants located in the TLR genes. By directly PCR sequencing four exons and their flanking sequence of chicken TLR3, a total of 50 nucleotide variants were identified from five breeds. Tibetan chickens and Silkies exhibited more abundant variation sites and rare alleles. Thirty haplotypes were reconstructed, with 31 variants whose minor allelic frequency was above 5% in five breeds, which revealed four divergent clades. Chicken TLR3 was partitioned into three haplotype blocks by the htSNPer program, and six tag SNPs could be used to distinguish these 30 haplotypes. Thirty variants were located in the coding sequence of chicken TLR3, and 16 of them were non-synonymous substitutions. It is predicted that p.Ser180Gly amino substitution could form an N-myristoylation site; the p.Lys240Thr amino substitution in chicken TLR3 could result in the loss of one protein kinase C phosphorylation site. These data provide a basic understanding of chicken TLR3 sequence variation and provide haplotypic markers for disease association studies.

Kashin-Beck disease and Sayiwak disease in China: prevalence and a comparison of the clinical manifestations, familial aggregation, and heritability.

OBJECTIVE: To compare the prevalence, the clinical manifestations, familial aggregation and heritability of Kashin-Beck disease (KBD) and Sayiwak disease (SD) in China. METHODS: 10,823 people from 1361 families in 14 villages in Linyou County, Shaanxi Province, were examined for KBD, and 2264 people from 552 families in Sayiwak village, Kashi city, Xinjiang, were examined for SD. The investigation included documentation of individual information and clinical manifestations. Patients were subject to radiographic imaging of the right hand. t-Tests and chi-square tests were used to examine correlations of the diseases with age and gender in each of the two groups. Analysis of familial aggregation was conducted with the chi-square distribution analysis of goodness of fit using the SAS8.0 program. The Li-Mantel-Gart method was employed for the segregation analysis. The Falconer regression method11 was employed to estimate heritability (h²). RESULTS: The prevalence of KBD in Linyou County was 10.90%, and of SD in Sayiwak village was 0.57%. Of the 21 clinical signs examined, KBD cases exhibited 19 signs (90.48%) and SD cases exhibited 18 signs (85.71%), which indicate similarities between the two diseases. However, different clinical signs were evident between the KBD and SD cases, with different impairment rates among joints of limbs in KBD and similar rates in SD. A comparison of radiological features of limb arthropathy between the two diseases showed differences in several characteristics between the two diseases. In addition, measurements of stature and sitting height showed significant differences in bone development between the two diseases. For KBD cases, the values of h² in the first-degree and the second-degree relatives were 41.76% and 37.20% (P<0.05). The CI of h² was 31.17-52.38 and 19.86-54.55, with a segregation ratio of P=0.12, SE(P)=0.014, 95%CI 0.09-0.15, less than 0.25(χ²=42.36, df=1, P<0.001). For SD cases, the values of h² were 155.61%, 273.63% and 236.83%. The 95% CIs of h² were 133.20-178.12, 229.83-317.42 and 145.83-327.81, respectively, with a segregation ratio of P=0.34, SE(P)=0.059, and CIs between 0.22 and 0.45(χ²=4.9817, df=1, P>0.05). CONCLUSION: The results indicate both similarities and differences in the clinical manifestations of KBD and SD. However, environmental factors appear to play a major role in KBD, while hereditability is a major factor in SD.

Validation of whole genome linkage-linkage disequilibrium and association results, and identification of markers to predict genetic merit for twinning.

A previous genome-wide search with a moderate density 10K marker set identified many marker associations with twinning rate, either through single-marker analysis or combined linkage-linkage disequilibrium (LLD; haplotype) analysis. The objective of the current study was to validate putative marker associations using an independent set of phenotypic data. Holstein bulls (n = 921) from 100 paternal half-sib families were genotyped. Twinning rate predicted transmitting abilities were calculated using calving records from 1994 to 1998 (Data I) and 1999 to 2006 (Data II), and the underlying liability scores from threshold model analysis were used as the trait in marker association analyses. The previous analysis used 201 bulls with daughter records in Data I. In the current analysis, this was increased to 434, providing a revised estimate of effect and significance. Bulls with daughter records in Data II totaled 851, and analysis of this data provided the validation of results from analysis of Data I. Single nucleotide polymorphisms (SNPs) were selected to validate previously significant single-marker associations and LLD results. Bulls were genotyped for a total of 306 markers. Nine of 13 LLD regions located on chromosomes 1, 2, 3, 6, 9, 22, 23(2) and 26 were validated, showing significant results for both Data I and II. Association analysis revealed 55 of 174 markers validated, equating to a single-marker validation rate of 31%. Stepwise backward elimination and cross-validation analyses identified 18 SNPs for use in a final reduced marker panel explaining 34% of the genetic variation, and to allow prediction of genetic merit for twinning rate.

Heritability estimates and linkage analysis of 23 short tandem repeat loci on chromosomes 2, 11, and 12 in an endemic osteochondropathy in China.

OBJECTIVE: To estimate the heritability of Kashin-Beck disease (KBD) in first-degree relatives and to identify chromosome regions likely to contain susceptibility loci for KBD. METHODS: A total of 331 probands with confirmed KBD in their pedigrees were selected from 9331 residents in 17 KBD villages of Linyou county, northwestern China. The heritability (h(2)) in first-degree relatives was estimated by using Falconer's formula. The segregation ratio was calculated by the Li-Mantel-Gart method. A total of 23 short tandem repeat (STR) loci on chromosomes 2, 11, and 12 were used to identify the susceptibility genes for KBD by linkage analysis using the GENEHUNTER program in 19 KBD pedigrees. RESULTS: The general prevalence rate of KBD was 13.75% in the 17 KBD villages, lower than that of 20.88% in the first-degree relatives of the KBD probands. In the first-degree relatives, the heritability was 0.064 and the segregation ratio 35.10% (p < 0.05). Slight evidence for heritability was detected only in locus D12S1725 with a logarithm of odds (LOD) score of 1.95. However, the nonparametric linkage (NPL) scores showed no linkage between KBD and the 23 loci; the maximum NPL score was 1.59 for locus D12S1725. CONCLUSIONS: Our results show that 35.10% of the heritability is attributable to genetic variation for the KBD phenotype among individuals of Linyou county, and the segregation ratio supports a multifactorial inheritance of KBD. There is no significant linkage between KBD and the 23 markers in the Linyou population examined; however, markers near the locus D12S1725 may indicate loci for further study.