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1.
Nanoscale ; 16(6): 3081-3090, 2024 Feb 08.
Article in English | MEDLINE | ID: mdl-38240724

ABSTRACT

A BaTiO3/SrCoO2.5 (BTO/SCO) bilayer and a BTO single film were prepared by radio frequency magnetron sputtering on La0.7Sr0.3MnO3 (LSMO) buffered SrTiO3 (001) substrates. Interestingly, compared with reported BTO-based films, the BTO/SCO/LSMO heterostructure has a maximum ON/OFF current ratio of ∼945. More interestingly, compared with the BTO single layer, a larger Pr (∼18.4 µC cm-2) and larger dielectric tunability (∼71.9%) were achieved in the BTO/SCO bilayer. The improved performance may be attributed to the large tetragonality and improved oxygen vacancy concentrations in the BTO/SCO/LSMO heterostructure. Furthermore, our BTO/SCO/LSMO stacks exhibit potential for flexible electronic informational devices.

2.
Eur Rev Med Pharmacol Sci ; 27(22): 10926-10934, 2023 Nov.
Article in English | MEDLINE | ID: mdl-38039022

ABSTRACT

OBJECTIVE: Brainstem tumors present a significant challenge in surgical treatment, and the prognostic factors in children are lacking. This study aimed to investigate clinical characteristics and prognostic factors of surgical treatment in children with brainstem tumors. PATIENTS AND METHODS: 50 children with brainstem tumors who underwent surgical treatment, including frameless- or frame-based stereotactic biopsy and resection, were included and followed up for clinical and biological analysis. Factors of outcomes were assessed by univariate and multivariate analysis. RESULTS: 27 cases (54.0%) underwent resection in all children with brainstem tumors. The rate of resection reached as high as 81.8% in children with non-diffuse intrinsic pontine glioma (DIPG), while in children with DIPG, biopsy was performed in the majority, and resection was obtained in the minority with focal necrosis. A rare complication was found following the surgery. Multivariate analysis considered World Health Organization (WHO) grade 3-4, with hazard ratio (HR)=4.48, 95% confidence interval (CI) of 2.84-8.69, p=0.001, H3K27M mutation (HR=2.50, 95% CI 1.73-5.69, p=0.015), and hydrocephalus (HR=2.17, 95% CI 1.08-5.32, p=0.014) as independent adverse prognostic factors. For Kaplan-Meier analysis, children with WHO grade 3-4, Ki-67 LI ≥ 20%, TP53 mutation, H3K27M mutation, DIPG, and hydrocephalus had significantly decreased overall survival (OS). CONCLUSIONS: A high rate of resection has been obtained in non-DIPG, and surgical intervention is remarkably safe and efficient for children with brainstem tumors. WHO grade 3-4, H3K27M mutation, and hydrocephalus indicate poor prognosis in children with brainstem tumors.


Subject(s)
Brain Stem Neoplasms , Glioma , Hydrocephalus , Humans , Child , Glioma/pathology , Prognosis , Brain Stem Neoplasms/genetics , Brain Stem Neoplasms/surgery , Brain Stem Neoplasms/pathology , Biopsy
3.
Zhonghua Wai Ke Za Zhi ; 61(5): 381-388, 2023 Mar 29.
Article in Chinese | MEDLINE | ID: mdl-36987672

ABSTRACT

Objective: To investigate surgical strategies and the corresponding benefits for patients with perihilar cholangiocarcinoma(pCCA). Methods: A total of 81 patients with pCCA who underwent radical excision in the Department of Biliary and Pancreatic Surgery of Sun Yat-Sen Memorial Hospital between January 2014 and December 2021 were retrospectively collected.The cohort consisted of 50 male and 31 female patients,with an age of (62.5±11.5)years(range:26 to 83 years).Seventy-five cases were diagnosed with jaundice,60 of whom received preoperative biliary drainage,while 20 patients received portal vein embolization.Their serum bilirubin level within one week before the operation(M(IQR)) was 44.3 (41.9) µmol/L(range:8.0 to 344.2 µmol/L).Preoperative imaging examinations were performed to evaluate the Bismuth-Corlette type of pCCA,showing 3,6,21,27,and 24 cases of Bismuth-Corlette type Ⅰ,Ⅱ,Ⅲa,Ⅲb,and Ⅳ,respectively.The primary outcome was overall survival (OS),and the secondary outcomes were relapse-free survival (RFS),90-day postoperative morbidity and 90-day postoperative mortality.OS and RFS were estimated using the Kaplan-Meier method and compared by the Log-rank test.Significant prognostic factors were determined using univariate and multivariable Cox proportional hazard regression analyses. Results: In the cohort of 81 pCCA patients,67 cases(82.7%) underwent major hepatectomy while 3 cases received major hepatectomy combined with pancreaticoduodenectomy.Thirty-four patients underwent hepatectomy combined with vascular resection and reconstruction(18 cases of portal vein resection and reconstruction alone;9 cases of hepatic artery resection and reconstruction alone;7 cases of combination of portal vein and hepatic artery resection and reconstruction).Margin negative(R0 excision) were achieved in 53.1%(43/81) of these patients.The operation duration was (627±136)minutes(range:565 to 940 minutes),and the intraoperative blood loss was 400(455)ml(range:200 to 2 800 ml).The 90-day postoperative mortality was 3.7%(3/81).Grade 3-4 postoperative morbidity was 23.4% (19/81) according to the Clavien-Dindo classification of surgical complications.Up to the last follow-up at September 2022,the follow-up time was 34.0(24.2)months (range:0.4 to 103.6 months).Three patients who died within 90 days after surgery were excluded from the survival analysis.The median OS was 36.10 months (95%CI:18.23 to 42.97 months) and the 1-,3-and 5-year OS rates were 85.3%,46.8% and 27.3%,respectively.The median OS of 41 patients with negative margins was 47.83 months(95%CI:36.90 to 58.80 months) and that of 37 patients with positive margins was 20.47 months(95%CI:10.52 to 30.58 months).The median RFS of 70 patients with R0 and R1 resection was 24.50 months(95%CI:12.15 to 31.85 months)and the 1-,3-and 5-year RFS rates were 65.2%,45.7% and 29.9%,respectively.The median RFS of 41 patients with R0 resection was 38.57 months(95%CI:21.50 to 55.63 months) and that of 29 patients with R1 resection was 10.83 months(95%CI:2.82 to 19.86 months). Conclusions: The primary therapy for pCCA is radical surgical resection.A precise preoperative evaluation and sufficient preparation can reduce postoperative morbidity.Surgical treatment can achieve a better survival outcome by increasing the radical resection rate.

4.
J Frailty Aging ; 11(3): 274-280, 2022.
Article in English | MEDLINE | ID: mdl-35799432

ABSTRACT

BACKGROUND: Sarcopenia is a prevalent and costly disease associated with serious negative health outcomes, and its prevalence will further grow as the percentage of elderly rises. Healthcare professionals play a crucial role in the prevention, identification and management of sarcopenia and in promoting the well-being of elders. Awareness and knowledge are the prerequisite and basis for these actions. OBJECTIVE: The objective of the review was to summarize available publications to identify the healthcare professionals' awareness and knowledge about sarcopenia, and to identify knowledge gaps that interventions could address. DESIGN: The scoping review will be performed based on the Scoping Review guidelines published by JBI in Australia. METHODS: Six electronic databases, including PubMed, Embase, CINAHL, Web of Science, Cochrane Library and CNKI were searched systematically. Two researchers independently screened the retrieved articles and extracted the information. RESULTS: A total of 6 studies were identified, including 5 quantitative studies and 1 qualitative study. These studies mainly were conducted in Australia, Netherlands and Brazil, and none from Asia. The awareness and knowledge of healthcare professionals about sarcopenia varied in different studies. With exception of one study conducted in oncology clinicians, other studies suggested that awareness and knowledge among healthcare professionals was incomplete and limited. CONCLUSION: The relatively few studies indicated that healthcare professionals had low awareness and limited knowledge of sarcopenia, which could influence and hinder the diagnosis and treatment of sarcopenia in practice. Future researches should develop a rigorously tested and valid sarcopenia knowledge assessment tool and researches conducted in larger samples are needed.


Subject(s)
Sarcopenia , Aged , Brazil , Delivery of Health Care , Health Personnel , Humans , Qualitative Research , Sarcopenia/diagnosis , Sarcopenia/prevention & control
5.
Zhonghua Zhong Liu Za Zhi ; 41(12): 932-936, 2019 Dec 23.
Article in Chinese | MEDLINE | ID: mdl-31874551

ABSTRACT

Objective: To explore the clinical characteristics, treatment strategy and prognosis of adenoid cystic carcinoma of the head and neck (ACCHN). Methods: A retrospective analysis of the clinical and follow-up treatment of 79 patients with ACCHN from June 2008 to July 2017 was conducted in the Cancer Hospital of Zhengzhou University. Results: A total of 79 ACCHN cases, including 31 males and 48 females. The age ranged from 19 to 77 (median, 52). The clinical manifestations of ACC were related to the locations of primary tumor.The mean size of the tumor was 2.6 cm (range from 1.5 to 7.7 cm). 50 of 79 patients with a definitive pathological diagnosis received surgical resection. 59 cases received chemotherapy and 62 cases received radiotherapy. With a median follow-up of 55 months, the 5-year, 10-year survival rate of these patients were 69.6% and 54.4%, respectively. Conclusions: ACCHN is an uncommon neoplasm with the characteristics of epithelial nerve growth, being inclined to distant metastasis, and high early misdiagnosis rate. The clinical manifestation, imaging and pathological result are need to be combined together to diagnose ACCHN.


Subject(s)
Carcinoma, Adenoid Cystic/surgery , Head and Neck Neoplasms/diagnosis , Head and Neck Neoplasms/surgery , Adult , Aged , Carcinoma, Adenoid Cystic/diagnosis , Carcinoma, Adenoid Cystic/mortality , Carcinoma, Adenoid Cystic/pathology , China/epidemiology , Female , Head and Neck Neoplasms/mortality , Head and Neck Neoplasms/pathology , Humans , Male , Middle Aged , Neoplasm Recurrence, Local , Prognosis , Retrospective Studies , Survival Rate , Treatment Outcome
7.
Sci Adv ; 5(3): eaav2189, 2019 03.
Article in English | MEDLINE | ID: mdl-30854430

ABSTRACT

The Late Paleogene surface height and paleoenvironment for the core area of the Qinghai-Tibetan Plateau (QTP) remain critically unresolved. Here, we report the discovery of the youngest well-preserved fossil palm leaves from Tibet. They were recovered from the Late Paleogene (Chattian), ca. 25.5 ± 0.5 million years, paleolake sediments within the Lunpola Basin (32.033°N, 89.767°E), central QTP at a present elevation of 4655 m. The anatomy of palms renders them intrinsically susceptible to freezing, imposing upper bounds on their latitudinal and altitudinal distribution. Combined with model-determined paleoterrestrial lapse rates, this shows that a high plateau cannot have existed in the core of Tibet in the Paleogene. Instead, a deep paleovalley, whose floor was <2.3 km above mean sea level bounded by (>4 km) high mountain systems, formed a topographically highly varied landscape. This finding challenges prevailing views on tectonic processes, monsoon dynamics, and the evolution of Asian biodiversity.


Subject(s)
Fossils , Geography , Tibet
8.
Zhonghua Zhong Liu Za Zhi ; 41(3): 193-199, 2019 Mar 23.
Article in Chinese | MEDLINE | ID: mdl-30917455

ABSTRACT

Objective: To investigate the role of microRNA-96-5p in the proliferation and invasion of gastric cancer cells and its molecular mechanism. Methods: From June 2015 to January 2017, 53 resected specimens were collected. The transcriptional levels of microRNA-96-5p and forkhead box Q1 (FoxQ1) in gastric cancer tissues and the matched para-cancerous tissues were quantified by quantitative real-time PCR (qRT-PCR). The expression of FoxQ1 protein was also detected by immunohistochemistry (IHC). The relationship between microRNA-96-5p expression and the clinicopathological features of gastric cancer and its correlation with FoxQ1 expression were analyzed. The expressions of miRNA-96-5p in gastric cancer tissue and adjacent normal tissue were detected by qRT-PCR. miRNA-96-5p mimics was transfected to BGC-823 gastric cancer cells. The effects of miRNA-96-5p on cell proliferation and invasion were detected by cell counting kit-8 (CCK-8) assay and Transwell assay, respectively. The protein expressions of FoxQ1, E-cadherin and vimentin were determined by western blot. The relationship between FoxQ1 and miRNA-96-5p expressed in BGC-823 cells was detected by dual-luciferase reporter assay. Results: The median expression of miRNA-96-5p in gastric cancer tissue was 1.05, significantly lower than 3.23 of para-cancerous tissues (P<0.05). The positive rate of FoxQ1 expression in gastric cancer tissue was 71.7%, significantly higher than 28.3% of para-cancerous tissues (P<0.05). The expression of FoxQ1 was negatively corelated with the level of miRNA-96-5p (r=-0.613, P=0.006). The expression of miRNA-96-5p in gastric cancer cell BGC-823 was significantly decreased compared with normal gastric epithelial cell (0.96±0.08 vs 2.84±0.15, P<0.05). The results of CCK-8 assay and Transwell assay showed that overexpression of miRNA-96-5p significantly reduced the proliferation and invasion abilities of gastric cancer cells (P<0.05). Overexpression of miRNA-96-5p decreased the protein level of FoxQ1. Moreover, it upregulated the expression of E-cadherin and downregulated the expression of vimentin. The result of dual-luciferase-3'-UTR reporter assay confirmed that miRNA-96-5p binds to the 3'UTR of FoxQ1. Conclusion: miRNA-96-5p may suppress the proliferation, migration and epithelial-mesenchymal transition (EMT) of gastric cancer cell by down-regulation of FoxQ1.


Subject(s)
Cell Movement , Cell Proliferation , Forkhead Transcription Factors/metabolism , MicroRNAs/metabolism , Neoplasm Invasiveness , Stomach Neoplasms/metabolism , Stomach Neoplasms/pathology , Cadherins/metabolism , Cell Line, Tumor , Down-Regulation , Epithelial-Mesenchymal Transition , Gene Expression Regulation, Neoplastic , Humans , Precancerous Conditions/metabolism , Precancerous Conditions/pathology , Up-Regulation , Vimentin/metabolism
9.
J Phys Condens Matter ; 31(12): 125502, 2019 Mar 27.
Article in English | MEDLINE | ID: mdl-30630133

ABSTRACT

We investigate the topological pumping effect in Weyl semimetals, subject to the modulation of two ac electric fields along y  and z directions, respectively. We show that the pumping effect originates from the anomalous velocity related to the Berry curvature. The direction of the pumping current is dependent on the chirality of the Weyl fermions. While the total particle current is vanishing because the Weyl points of opposite chirality always come in pairs in Weyl semimetals, the pump gives rise to a net chirality current or valley current. The noiseless valley current generated can be useful in valleytronic applications.

10.
Sci Rep ; 7(1): 5078, 2017 07 11.
Article in English | MEDLINE | ID: mdl-28698631

ABSTRACT

We develop an analytical theory of the low-frequency ac quantum spin Hall (QSH) effect based upon the scattering matrix formalism. It is shown that the ac QSH effect can be interpreted as a bulk quantum pumping effect. When the electron spin is conserved, the integer-quantized ac spin Hall conductivity can be linked to the winding numbers of the reflection matrices in the electrodes, which also equal to the bulk spin Chern numbers of the QSH material. Furthermore, a possible experimental scheme by using ferromagnetic metals as electrodes is proposed to detect the topological ac spin current by electrical means.

11.
Sci Rep ; 7(1): 3755, 2017 06 16.
Article in English | MEDLINE | ID: mdl-28623269

ABSTRACT

The surface states of three-dimensional topological insulators possess the unique property of spin-momentum interlocking. This property gives rise to the interesting inverse Edelstein effect (IEE), in which an applied spin bias µ is converted to a measurable charge voltage difference V. We develop a semiclassical theory for the IEE of the surface states of Bi2Se3 thin films, which is applicable from the ballistic regime to diffusive regime. We find that the efficiency of the spin-charge conversion, defined as γ = V/µ, exhibits a universal dependence on the ratio between sample size and electron mean free path. The efficiency increases from γ = π/4 in the ballistic limit to γ = π in the diffusive limit, suggesting that sufficient strength of impurity scattering is favorable for the IEE.

12.
Zhonghua Zhong Liu Za Zhi ; 39(3): 211-215, 2017 Mar 23.
Article in Chinese | MEDLINE | ID: mdl-28316222

ABSTRACT

Objective: To explore the clinical characteristics, surgical procedures and prognosis of solid pseudopapillary tumor of the pancreas(SPTP). Methods: The clinical and follow-up data of 55 cases with SPTP in Henan Tumor Hospital from June 2005 to April 2015 were retrospectively analyzed. Results: There were 55 SPTP cases, including 7 males and 48 females. The age ranged from 16 to 76 (median, 33). Clinical presentations of SPTP were not specific. The mean size of the tumor was 7.6 cm (range from 2 to 25cm). Pancreatic head and tail were the most common locations of SPTP. All the patients received surgical resection with a definitive pathological diagnosis. Some immunohistochemical markers were mostly positive, including ß-catenin, Vim, Syn, CD10, CD56, PR, etc. With a median follow-up of 53 months, the 1-year, 2-year and 5-year survival rate were 98.1%, 96.1% and 94.0%, respectively. Conclusions: SPTP is an uncommon exocrine pancreatic neoplasm with low malignant potential, which frequently occurs in young women. Preoperative imaging can provide evidence for the selection of treatment modalities among which surgical resection ispreferred. Diagnosis still relies on pathology and immunohistochemistry.


Subject(s)
Carcinoma, Papillary , Pancreatic Neoplasms , Adolescent , Adult , Aged , Biomarkers, Tumor/analysis , Carcinoma, Papillary/chemistry , Carcinoma, Papillary/mortality , Carcinoma, Papillary/pathology , Carcinoma, Papillary/surgery , Female , Follow-Up Studies , Humans , Immunohistochemistry , Male , Middle Aged , Pancreas/chemistry , Pancreas/pathology , Pancreas/surgery , Pancreatic Neoplasms/chemistry , Pancreatic Neoplasms/mortality , Pancreatic Neoplasms/pathology , Pancreatic Neoplasms/surgery , Prognosis , Retrospective Studies , Survival Rate , Tumor Burden
13.
Phys Rev Lett ; 118(9): 096603, 2017 Mar 03.
Article in English | MEDLINE | ID: mdl-28306288

ABSTRACT

The asymmetric electron dispersion in type-II Weyl semimetal theoretically hosts anisotropic transport properties. Here, we observe the significant anisotropic Adler-Bell-Jackiw (ABJ) anomaly in the Fermi-level delicately adjusted WTe_{1.98} crystals. Quantitatively, C_{W}, a coefficient representing the intensity of the ABJ anomaly along the a and b axis of WTe_{1.98} are 0.030 and 0.051 T^{-2} at 2 K, respectively. We found that the temperature-sensitive ABJ anomaly is attributed to a topological phase transition from a type-II Weyl semimetal to a trivial semimetal, which is verified by a first-principles calculation using experimentally determined lattice parameters at different temperatures. Theoretical electrical transport study reveals that the observation of an anisotropic ABJ along both the a and b axes in WTe_{1.98} is attributed to electrical transport in the quasiclassical regime. Our work may suggest that electron-doped WTe_{2} is an ideal playground to explore the novel properties in type-II Weyl semimetals.

14.
Sci Rep ; 7: 43049, 2017 02 21.
Article in English | MEDLINE | ID: mdl-28220858

ABSTRACT

We show that quantum spin Hall (QSH) effect does not occur in a square lattice model due to cancellation of the intrinsic spin-orbit coupling coming from different hopping paths. However, we show that QSH effect can be induced by the presence of staggered magnetic fluxes alternating directions square by square. When the resulting Peierls phase takes a special value , the system has a composite symmetry ΘΡ- with Θ the time-reversal operator and Ρ- transforming the Peierls phase from γ to γ - , which protects the gapless edge states. Once the phase deviates from , the edge states open a gap, as the composite symmetry is broken. We further investigate the effect of a Zeeman field on the QSH state, and find that the edge states remain gapless for . This indicates that the QSH effect is immune to the magnetic perturbation.

15.
Eur Rev Med Pharmacol Sci ; 20(19): 3992-3996, 2016 10.
Article in English | MEDLINE | ID: mdl-27775801

ABSTRACT

OBJECTIVE: Long non-coding RNAs (lncRNAs) CRNDE has been identified as a tumor oncogene in glioma. However, its clinical significance and prognostic value in glioma have not been investigated until now. The aim of this study was to explore CRNDE expression levels and evaluated its clinical significance in glioma patients. PATIENTS AND METHODS: Expression levels of lncRNA CRNDE in 164 glioma specimens were determined by quantitative real-time PCR (qRT-PCR). The chi-square test was used to explore CRNDE expression with respect to clinicopathological parameters. The overall survival was analyzed by log-rank test, and survival curves were plotted according to Kaplan-Meier. Univariate and multivariate analyses were performed to analyze the prognostic significance of CRNDE expression. RESULTS: Compared with nonneoplastic brain tissues, the expression level of CRNDE was significantly increased in glioma tissues (p < 0.01). CRNDE upregulation was correlated with larger tumor size (p = 0.011), higher WHO grade (p = 0.001), and recurrence (p = 0.008). Also, survival analysis proved that up-regulated CRNDE expression was associated with poor overall survival of glioma patients (p < 0.001). The multivariate Cox regression analysis indicated that CRNDE expression was an independent prognostic factor for overall survival. CONCLUSIONS: These results indicated that lncRNA CRNDE was associated with tumor progression and could be an independent prognostic factor for glioma patients.


Subject(s)
Brain Neoplasms/genetics , Gene Expression Regulation, Neoplastic , Glioma/genetics , RNA, Long Noncoding/genetics , Biomarkers, Tumor/genetics , Disease Progression , Female , Humans , Kaplan-Meier Estimate , Male , Middle Aged , Neoplasm Recurrence, Local/genetics , Prognosis
16.
Sci Rep ; 6: 25503, 2016 05 05.
Article in English | MEDLINE | ID: mdl-27148675

ABSTRACT

We investigate the topological phase transitions in a two-dimensional time-reversal invariant topological superconductor in the presence of a Zeeman field. Based on the spin Chern number theory, we find that the system exhibits a number of topologically distinct phases with changing the out-of-plane component of the Zeeman field, including a quantum spin Hall-like phase, quantum anomalous Hall-like phases with total Chern number C = -2, -1, 1 and 2, and a topologically trivial superconductor phase. The BdG band gap closes at each boundary of the phase transitions. Furthermore, we demonstrate that the zero bias conductance provides clear transport signatures of the different topological phases, which are robust against symmetry-breaking perturbations.

17.
Zhonghua Yi Xue Za Zhi ; 96(47): 3829-3832, 2016 Dec 20.
Article in Chinese | MEDLINE | ID: mdl-28057100

ABSTRACT

Objective: To investigate the number of metastatic lymph nodes (pN) and the metastatic lymph node ratio (LNR) on the post-surgical prognosis of patients with esophageal cancer (EC). Methods: A retrospective analysis of 573 inpatients diagnosed as esophageal carcinomas from March 2008 to June 2012 was carried out.All pathologic specimen were reviewed by pathologists from Henan Tumor Hospital.The Kaplan-Meier method was used to calculate survival rates, and survival curves were compared with the Log-rank test.The Cox model was employed for multivariate analyses of factors.The association of pN and LNR with prognosis of esophageal cancer was examined by the area under the ROC curve(AUC). Results: The 1-, 3- and 5-year OS rates were 72.5%, 46.1% and 32.3%, respectively.Univariate analysis showed that tumor location(P=0.020), tumor length(P=0.009), pT stage(P=0.011), pN stage(P<0.01), and the LNR(P<0.01) were prognostic factors for OS.Multivariate analysis indicated that pT stage(P=0.047), pN stage(P=0.018) and LNR(P=0.011) were significant and independent risk factors for poor OS.ROC analysis indicated that LNR (AUC=0.680) had better predictive value than pN (AUC=0.579). Conclusion: The integrated use of LNR and pN may be suitable for evaluation of prognosis in patients with EC and positive nodal metastasis after curative resection.


Subject(s)
Esophageal Neoplasms , Esophagectomy , Humans , Lymph Node Excision , Lymph Nodes , Lymphatic Metastasis , Multivariate Analysis , Neoplasm Staging , Prognosis , ROC Curve , Retrospective Studies , Risk Factors , Survival Rate
18.
Genetika ; 51(10): 1163-70, 2015 Oct.
Article in English | MEDLINE | ID: mdl-27169231

ABSTRACT

Umbilical hernia (UH) is a complex disorder caused by both genetic and environmental factors. UH brings animal welfare problems and severe economic loss to the pig industry. Until now, the genetic basis of UH is poorly understood. The high-density 60K porcine SNP array enables the rapid application of genome-wide association study (GWAS) to identify genetic loci for phenotypic traits at genome wide scale in pigs. The objective of this research was to identify susceptibility loci for swine umbilical hernia using the GWAS approach. We genotyped 478 piglets from 142 families representing three Western commercial breeds with the Illumina PorcineSNP60 BeadChip. Then significant SNPs were detected by GWAS using ROADTRIPS (Robust Association-Detection Test for Related Individuals with Population Substructure) software base on a Bonferroni corrected threshold (P = 1.67E-06) or suggestive threshold (P = 3.34E-05) and false discovery rate (FDR = 0.05). After quality control, 29,924 qualified SNPs and 472 piglets were used for GWAS. Two suggestive loci predisposing to pig UH were identified at 44.25MB on SSC2 (rs81358018, P = 3.34E-06, FDR = 0.049933) and at 45.90MB on SSC17 (rs81479278, P = 3.30E-06, FDR = 0.049933) in Duroc population, respectively. And no SNP was detected to be associated with pig UH at significant level in neither Landrace nor Large White population. Furthermore, we carried out a meta-analysis in the combined pure-breed population containing all the 472 piglets. rs81479278 (P = 1.16E-06, FDR = 0.022475) was identified to associate with pig UH at genome-wide significant level. SRC was characterized as plausible candidate gene for susceptibility to pig UH according to its genomic position and biological functions. To our knowledge, this study gives the first description of GWAS identifying susceptibility loci for umbilical hernia in pigs. Our findings provide deeper insights to the genetic architecture of umbilical hernia in pigs.


Subject(s)
Genetic Loci , Genetic Predisposition to Disease , Hernia, Umbilical/genetics , Hernia, Umbilical/veterinary , Swine Diseases/genetics , Swine/genetics , Animals , Genome-Wide Association Study
19.
Genes Brain Behav ; 11(2): 170-6, 2012 Mar.
Article in English | MEDLINE | ID: mdl-22151702

ABSTRACT

SCN1A is the most relevant epilepsy gene. Mutations of SCN1A generate phenotypes ranging from the extremely severe form of Dravet syndrome (DS) to a mild form of generalized epilepsy with febrile seizures plus (GEFS+). Mosaic SCN1A mutations have been identified in rare familial DS. It is suspected that mosaic mutations of SCN1A may cause other types of familial epilepsies with febrile seizures (FS), which are more common clinically. Thus, we screened SCN1A mutations in 13 families with partial epilepsy with antecedent febrile seizures (PEFS+) using denaturing high-performance liquid chromatography and sequencing. The level of mosaicism was further quantified by pyrosequencing. Two missense SCN1A mutations with mosaic origin were identified in two unrelated families, accounting for 15.4% (2/13) of the PEFS+ families tested. One of the mosaic carriers with ~25.0% mutation of c.5768A>G/p.Q1923R had experienced simple FS; another with ~12.5% mutation of c.4847T>C/p.I1616T was asymptomatic. Their heterozygous children had PEFS+. Recurrent transmission occurred in both families, as noted in most of the families with germline mosaicism reported previously. The two mosaic mutations identified in this study are less destructive missense, compared with the more destructive truncating and splice-site mutations identified in the majority of previous studies. This is the first report of mosaic SCN1A mutations in families with probands that do not exhibit DS, but manifest only a milder phenotype. Therefore, such families with mild cases should be approached with caution in genetic counseling and the possibility of mosaicism origin associated with high recurrence risk should be excluded.


Subject(s)
Epilepsies, Partial/genetics , Mosaicism , Mutation, Missense , Nerve Tissue Proteins/genetics , Seizures, Febrile/genetics , Sodium Channels/genetics , Child , Female , Genotype , Humans , Male , NAV1.1 Voltage-Gated Sodium Channel , Pedigree , Phenotype , Young Adult
20.
Neuroscience ; 157(3): 566-76, 2008 Dec 02.
Article in English | MEDLINE | ID: mdl-18930118

ABSTRACT

The A-type voltage-gated potassium channels (Kv4) have been proved to play a major role as modulators of somatodendritic excitability. Recent studies indicate that neuronal hyperactivity in epilepsy is associated with changes in Kv4. However, the precise regulation of Kv4 in the development of epilepsy and its underlying mechanism remain unclear. In this study, we investigated whether the expression of the Kv4.2 channel and of its major modulator, voltage-dependent potassium channel-interacting protein (KChIP1), is altered following lithium-pilocarpine induced status epilepticus (SE) and the chronic-epilepsy phase in the rat model. We found that Kv4.2 and KChIP1 expression was transiently up-regulated following SE, whereas it was down-regulated during the chronic phase: this was most prominent in the CA1 and CA3 regions. The time-course analysis of the protein expression level showed that the peak Kv4.2 up-regulation was between 6 and 24 h after SE, whereas KChIP1 expression was increased earlier and for a shorter period. The temporospatial changes in Kv4.2 were very similar to those of its major modulator KChIP1. We compared the difference in 4-aminopyridine (4-AP)-induced intracellular calcium ([Ca(2+)]i) elevation between model and control brain slices. The results showed that the [Ca(2+)]i elevation induced by the Kv4 channel blocker 4-AP was aggravated and prolonged in the model slice after SE. The functional relevance of these changes in Ca(2+) homeostasis and Kv4.2 and KChIP1 expression may be associated with intrinsic neuronal excitability regulation and epileptogenesis.


Subject(s)
Calcium/metabolism , Extracellular Fluid/metabolism , Gene Expression Regulation/physiology , Kv Channel-Interacting Proteins/metabolism , Shal Potassium Channels/metabolism , Status Epilepticus/metabolism , 4-Aminopyridine/pharmacology , Animals , Disease Models, Animal , Extracellular Fluid/drug effects , Female , Gene Expression Regulation/drug effects , Hippocampus/drug effects , Hippocampus/metabolism , In Vitro Techniques , Lithium Chloride , Pilocarpine , Potassium Channel Blockers/pharmacology , Rats , Rats, Sprague-Dawley , Status Epilepticus/chemically induced , Status Epilepticus/pathology , Time Factors
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