Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 72
Filter
1.
Sci Rep ; 14(1): 11259, 2024 May 17.
Article in English | MEDLINE | ID: mdl-38755222

ABSTRACT

As the terminal of the power system, the distribution network is the main area where failures occur. In addition, with the integration of distributed generation, the traditional distribution network becomes more complex, rendering the conventional fault location algorithms based on a single power supply obsolete. Therefore, it is necessary to seek a new algorithm to locate the fault of the distributed power distribution network. In existing fault localization algorithms for distribution networks, since there are only two states of line faults, which can usually be represented by 0 and 1, most algorithms use discrete algorithms with this characteristic for iterative optimization. Therefore, this paper combines the advantages of the particle swarm algorithm and genetic algorithm and uses continuous real numbers for iteration to construct a successive particle swarm genetic algorithm (SPSO-GA) different from previous algorithms. The accuracy, speed, and fault tolerance of SPSO-GA, discrete particle swarm Genetic algorithm, and artificial fish swarm algorithm are compared in an IEEE33-node distribution network with the distributed power supply. The simulation results show that the SPSO-GA algorithm has high optimization accuracy and stability for single, double, or triple faults. Furthermore, SPSO-GA has a rapid convergence velocity, requires fewer particles, and can locate the fault segment accurately for the distribution network containing distorted information.

2.
Sci Prog ; 107(1): 368504241238081, 2024.
Article in English | MEDLINE | ID: mdl-38500341

ABSTRACT

This article reveals the chip formation and the reducing of cutting force mechanisms of nickel-based superalloy Inconel 718 under elliptical vibration cutting using finite element analysis software. The results are compared with traditional cutting methods. The elliptical motion trajectory of the tool in elliptical vibration cutting machining is analyzed, and a two-dimensional finite element elliptical vibration cutting model is established. The effects of dynamic impact on the elliptical vibration cutting of Inconel 718 were discussed in terms of the surface morphology, chip formation mechanism, and cutting force reduced mechanism. The simulation results show that (1) compared with traditional cutting, the surface morphology of the workpiece machined by elliptical vibration cutting is better, and the machined surface has obvious elliptic indentation; (2) in traditional cutting, sawtooth chips are formed through shear slip, while in elliptical vibration cutting, the faster relative cutting speed vc, higher tool-tip temperature, and smaller material removal cross-sectional area cause a more prominent thermal softening effect in the chip formation process than that in traditional cutting, which leads to the plastic flow to be dominant in the material removal process, resulting in the strip chips; and (3) compared with traditional cutting, the normal cutting force and the tangential cutting force in elliptical vibration cutting are separately reduced about 51.4% and 60.8%.

3.
Curr Eye Res ; 49(4): 368-379, 2024 04.
Article in English | MEDLINE | ID: mdl-38164922

ABSTRACT

PURPOSE: Circular RNAs (circRNAs) are products of alternative splicing with roles as competitive endogenous RNAs or microRNA sponges, regulating gene expression and biological processes. However, the involvement of circRNAs in herpes simplex keratitis remains largely unexplored. METHODS: This study examines circRNA and miRNA expression profiles in primary human corneal epithelial cells infected with HSV-1, compared to uninfected controls, using microarray analysis. Bioinformatic analysis predicted the potential function of the dysregulated circRNAs and microRNA response elements (MREs) in these circRNAs, forming an interaction network between dysregulated circRNAs and miRNAs. RESULTS: A total of 332 circRNAs and 16 miRNAs were upregulated, while 80 circRNAs and six miRNAs were downregulated (fold change ≥2.0 and p < 0.05). Gene ontology (GO) and KEGG pathway analyses were performed on parental genes of dysregulated circRNAs to uncover potential functions in HSV-1 infection. Notably, miR-181b-5p, miR-338-3p, miR-635, and miR-222-3p emerged as pivotal miRNAs interacting with multiple dysregulated circRNAs. CONCLUSIONS: This comprehensive study offers insights into differentially expressed circRNAs and miRNAs during HSV-1 infection in corneal epithelial cells, shedding light on circRNA-miRNA interactions' potential role in herpes simplex keratitis pathogenesis.


Subject(s)
Herpes Simplex , Herpesvirus 1, Human , Keratitis, Herpetic , MicroRNAs , Humans , MicroRNAs/genetics , MicroRNAs/metabolism , RNA, Circular/genetics , Herpesvirus 1, Human/genetics , Epithelial Cells/metabolism , Keratitis, Herpetic/genetics
4.
Int J Mol Sci ; 24(22)2023 11 07.
Article in English | MEDLINE | ID: mdl-38003235

ABSTRACT

The phytohormone gibberellic acids (GAs) play a crucial role in the processes of growth, organ development, and secondary metabolism. However, the mechanism of exogenous GA3 regulating the growth and flavonoid synthesis in Phellodendron chinense Schneid (P. chinense Schneid) seedlings remains unclear. In this study, the physicochemical properties, gene expression level, and secondary metabolite of P. chinense Schneid seedlings under GA3 treatment were investigated. The results showed that GA3 significantly improved the plant height, ground diameter, fresh weight, chlorophyll content, soluble substance content, superoxide dismutase, and peroxidase activities. This was accompanied by elevated relative expression levels of Pc(S)-GA2ox, Pc(S)-DELLA, Pc(S)-SAUR50, Pc(S)-PsaD, Pc(S)-Psb 27, Pc(S)-PGK, Pc(S)-CER3, and Pc(S)-FBA unigenes. Conversely, a notable reduction was observed in the carotenoid content, catalase activity and the relative expression abundances of Pc(S)-KAO, Pc(S)-GID1/2, and Pc(S)-GH 3.6 unigenes in leaves of P. chinense Schneid seedlings (p < 0.05). Furthermore, GA3 evidently decreased the contents of pinocembrin, pinobanksin, isosakuranetin, naringin, naringenin, (-)-epicatechin, tricetin, luteolin, and vitexin belonged to flavonoid in stem bark of P. chinense Schneid seedlings (p < 0.05). These results indicated that exogenous GA3 promoted growth through improving chlorophyll content and gene expression in photosynthesis and phytohormone signal pathway and inhibited flavonoid synthesis in P. chinense Schneid seedlings.


Subject(s)
Phellodendron , Plant Growth Regulators , Plant Growth Regulators/pharmacology , Phellodendron/genetics , Phellodendron/chemistry , Seedlings/genetics , Transcriptome , Flavonoids , Chlorophyll
5.
Opt Express ; 31(20): 33274-33286, 2023 Sep 25.
Article in English | MEDLINE | ID: mdl-37859111

ABSTRACT

The coupling of electron spin and nuclear spin through spin-exchange collisions compensates for external magnetic field interference in the spin-exchange relaxation-free (SERF) comagnetometer. However, the compensation ability for magnetic field interference along the detection axis is limited due to the presence of nuclear spin relaxation. This paper aims to enhance the self-compensation capability of the system by optimizing the pressure of the noble gas during cell filling. Models are established to describe the relationships between the nuclear spin polarization, the polarizing magnetic field of nuclei, the magnetic field suppression factors, and the pressure of the noble gas in the K-Rb-21Ne atomic ensemble. Experiments are conducted using five cells with different pressure. The results indicate that in the positive pressure area, the nuclear spin polarization decreases while the equivalent magnetic field experienced by the noble gas increases with increasing pressure. The magnetic field suppression factor for transverse fields increases as the pressure increases, leading to a decrease in the ability to suppress low-frequency magnetic field interference. Moreover, at the cell temperature of 180°C and a transverse residual field gradient of 4.012 nT/cm, the system exhibits its strongest capability to suppress transverse magnetic field interference when the pressure of 21Ne is around 0.7 atm.

6.
Cell Rep ; 42(7): 112691, 2023 07 25.
Article in English | MEDLINE | ID: mdl-37354460

ABSTRACT

Copy-number variations (CNVs) of the human 16p11.2 genetic locus are associated with neurodevelopmental disorders, including autism spectrum disorders (ASDs) and schizophrenia. However, it remains largely unclear how this locus is involved in the disease pathogenesis. Doc2α is localized within this locus. Here, using in vivo and ex vivo electrophysiological and morphological approaches, we show that Doc2α-deficient mice have neuronal morphological abnormalities and defects in neural activity. Moreover, the Doc2α-deficient mice exhibit social and repetitive behavioral deficits. Furthermore, we demonstrate that Doc2α functions in behavioral and neural phenotypes through interaction with Secretagogin (SCGN). Finally, we demonstrate that SCGN functions in social/repetitive behaviors, glutamate release, and neuronal morphology of the mice through its Doc2α-interacting activity. Therefore, Doc2α likely contributes to neurodevelopmental disorders through its interaction with SCGN.


Subject(s)
Autism Spectrum Disorder , Schizophrenia , Animals , Humans , Mice , Autism Spectrum Disorder/genetics , Chromosome Deletion , Chromosomes, Human, Pair 16/genetics , DNA Copy Number Variations/genetics , Schizophrenia/genetics , Secretagogins/genetics , Social Behavior
7.
Anim Genet ; 54(2): 199-206, 2023 Apr.
Article in English | MEDLINE | ID: mdl-36683294

ABSTRACT

As an important source of genomic variation, copy number variation (CNV) contributes to environmental adaptation in worldwide buffaloes. Despite this importance, CNV divergence between swamp buffaloes and river buffaloes has not been studied previously. Here, we report 21 152 CNV regions (CNVRs) in 141 buffaloes of 20 breeds detected through multiple CNV calling strategies. Only 248 CNVRs were shared between river buffalo and swamp buffalo, reflecting great variation of CNVRs between the two subspecies. Population structure analysis based on CNVs successfully separated the two buffalo subspecies. We further assessed CNV divergence by calculating FST for genome-wide CNVs. Totally, we identified 110 significantly divergent CNV segments and 44 putatively selected genes between river buffaloes and swamp buffaloes. In particular, LALBA, a key gene controlling milk production in cattle, presented a highly differentiated CNV in the promoter region, which makes it a strong functional candidate gene for differences between swamp buffaloes and river buffaloes in traits related to milk production. Our study provides useful information of CNVs in buffaloes, which may help explain the genetic differences between the two subspecies.


Subject(s)
Bison , Buffaloes , DNA Copy Number Variations , Animals , Cattle , Bison/genetics , Buffaloes/genetics , Genome , Phenotype
8.
Anim Biotechnol ; 34(7): 2082-2093, 2023 Dec.
Article in English | MEDLINE | ID: mdl-35533681

ABSTRACT

The sterol regulatory element-binding factor (SREBF) genes are a vital group of proteins binding to the sterol regulatory element 1 (SRE-1) regulating the synthesis of fatty acid. Two potential candidate genes (SREBF1 and SREBF2) have been identified as affecting milk traits. This study aims to identify the SREBF family of genes and find candidate markers or SREBF genes influencing lactation production in buffalo. A genome-wide study was performed and identified seven SREBF genes randomly distributed on 7 chromosomes and 24 protein isoforms in buffalos. The SREBF family of genes were also characterized in cattle, goat, sheep and horse, and using these all-protein sequences, a phylogenetic tree was built. The SREBF family genes were homologous between each other in the five livestock. Eight single nucleotide polymorphisms (SNPs) within or near the SREBF genes in the buffalo genome were identified and at least one milk production trait was associated with three of the SNP. The expression of SREBF genes at different lactation stages in buffalo and cattle from published data were compared and the SREBF genes retained a high expression throughout lactation with the trend being the same for buffalo and cattle. These results provide valuable information for clarifying the evolutionary relationship of the SREBF family genes and determining the role of SREBF genes in the regulation of milk production in buffalo.


Subject(s)
Genome-Wide Association Study , Milk , Female , Cattle/genetics , Animals , Horses/genetics , Sheep/genetics , Milk/chemistry , Genome-Wide Association Study/veterinary , Phylogeny , Lactation/genetics , Phenotype , Polymorphism, Single Nucleotide/genetics , Buffaloes/genetics
9.
Sci Total Environ ; 859(Pt 2): 160314, 2023 Feb 10.
Article in English | MEDLINE | ID: mdl-36414063

ABSTRACT

Natural water pollution and eutrophication are environmental problems that urgently need to be solved. Porous ceramsite could be applied for both water storage and water purification. This research used biomass and dredged silt to prepare water storage ceramsite (WSC), and investigated the adsorption and removal effects of WSC on phosphorus (P), nitrogen ((NH4+)N) and chemical oxygen demand (COD). The results showed that the biomass was mostly burned and partially carbonized during the high-temperature sintering process to form a rich pore structure inside the material. The rich pore structure effectively improved the water absorption to 105.58 %. The abundant specific surface area could provide many attachment sites, which is conducive to the adsorption of target ions by WSC. Further testing showed that WSC could adsorb ions with different charges in different pH solutions. Therefore, this study provides a sustainable solution for the co-utilization of biomass waste and dredged silt, and the application of WSC could reduce the damage caused by extreme rainfall and water pollution.


Subject(s)
Water Pollutants, Chemical , Water Purification , Water , Water Purification/methods , Phosphorus , Biological Oxygen Demand Analysis , Nitrogen , Biomass , Adsorption
10.
Anim Genet ; 53(6): 761-768, 2022 Dec.
Article in English | MEDLINE | ID: mdl-36226728

ABSTRACT

Extrachromosomal circular DNA (eccDNA) is an important fraction of the genome. Recent studies proved that eccDNA plays important roles in genetic variation, aging and environmental adaptation, which have drawn wide attention. However, the characteristics of eccDNA in cattle remain unclear. Here, we studied eccDNAs from 676 cattle of 58 breeds using whole genome sequencing datasets. In total, 47 355 high-confidence eccDNAs were identified and covered 4.6% of the cattle autosomes in length. Similarly to other species, the cattle eccDNA preferentially located in the genic and repeat sequences. Cattle eccDNAs contained complete sequences of 661 genes, which were significantly (p < 0.05) enriched in immunity-related functions. The eccDNA was further proved to have inverted repeats on the boundaries, which contained a high proportion of A/T and ranged from 4 to 17 bp. Interestingly, we successfully separated animals according to their geographical distributions and their tissues where DNA was isolated. This implied possible roles for eccDNA in cattle selection and tissue development. Our study supplies basic knowledges on eccDNAs in cattle, which will promote understanding of extrachromosomal DNA.


Subject(s)
Chromosomes , DNA, Circular , Cattle/genetics , Animals , DNA, Circular/genetics , Genome , DNA , Whole Genome Sequencing/veterinary
11.
Genome Res ; 2022 Aug 17.
Article in English | MEDLINE | ID: mdl-35977842

ABSTRACT

A cattle pangenome representation was created based on the genome sequences of 898 cattle representing 57 breeds. The pangenome identified 83 Mb of sequence not found in the cattle reference genome, representing 3.1% novel sequence compared with the 2.71-Gb reference. A catalog of structural variants developed from this cattle population identified 3.3 million deletions, 0.12 million inversions, and 0.18 million duplications. Estimates of breed ancestry and hybridization between cattle breeds using insertion/deletions as markers were similar to those produced by single nucleotide polymorphism-based analysis. Hundreds of deletions were observed to have stratification based on subspecies and breed. For example, an insertion of a Bov-tA1 repeat element was identified in the first intron of the APPL2 gene and correlated with cattle breed geographic distribution. This insertion falls within a segment overlapping predicted enhancer and promoter regions of the gene, and could affect important traits such as immune response, olfactory functions, cell proliferation, and glucose metabolism in muscle. The results indicate that pangenomes are a valuable resource for studying diversity and evolutionary history, and help to delineate how domestication, trait-based breeding, and adaptive introgression have shaped the cattle genome.

12.
J Digit Imaging ; 35(6): 1681-1689, 2022 12.
Article in English | MEDLINE | ID: mdl-35711073

ABSTRACT

The characteristics of bone fragments are the main influencing factors for the choice of treatment in intertrochanteric fractures. This study aimed to develop a deep learning algorithm for recognizing and segmenting individual fragments in CT images of complex intertrochanteric fractures for orthopedic surgeons. This study was based on 160 hip CT scans (43,510 images) of complex fractures of three types based on the Evans-Jensen classification (40 cases of type 3 (IIA) fractures, 80 cases of type 4 (IIB)fractures, and 40 cases of type 5 (III)fractures) retrospectively. The images were randomly split into two groups to construct a training set of 120 CT scans (32,045 images) and a testing set of 40 CT scans (11,465 images). A deep learning model was built into a cascaded architecture composed by a convolutional neural network (CNN) for location of the fracture ROI and another CNN for recognition and segmentation of individual fragments within the ROI. The accuracy of object detection and dice coefficient of segmentation of individual fragments were used to evaluate model performance. The model yielded an average accuracy of 89.4% for individual fragment recognition and an average dice coefficient of 90.5% for segmentation in CT images. The results demonstrated the feasibility of recognition and segmentation of individual fragments in complex intertrochanteric fractures with a deep learning approach. Altogether, these promising results suggest the potential of our model to be applied to many clinical scenarios.


Subject(s)
Deep Learning , Hip Fractures , Humans , Retrospective Studies , Tomography, X-Ray Computed/methods , Neural Networks, Computer , Hip Fractures/diagnostic imaging , Image Processing, Computer-Assisted/methods
13.
Oncogene ; 41(23): 3210-3221, 2022 06.
Article in English | MEDLINE | ID: mdl-35505093

ABSTRACT

Colorectal cancer (CRC) is the leading cause of cancer associated death worldwide. Ferroptosis is a newly defined form of regulated cell death characterized by the accumulation of lipid hydroperoxides and exerts an increased attention for cancer treatment. However, little is known about ferroptosis in CRC. In this study, through whole genome sequencing and external differential differentiated expression analysis, we identify CUL9 as a novel important modulator for ferroptosis in CRC. Here we demonstrated that CUL9 can binds p53 to ubiquitylate heterogeneous nuclear ribonucleoprotein C for degradation. Overexpression of CUL9 increases resistance to erastin-induced ferroptosis. Then, we discovered this resistance was mediated by CUL9-HNRNPC-MATE1 negative loop, which can provide us with a novel target to overcome drug resistance to ferroptosis activators. Finally, we found that targeting MDM2 was developed as an effective strategy to destroy precious drug-resistant CRC cells.


Subject(s)
Colorectal Neoplasms , Ferroptosis , Colorectal Neoplasms/drug therapy , Colorectal Neoplasms/genetics , Colorectal Neoplasms/metabolism , Cullin Proteins/metabolism , Ferroptosis/genetics , Heterogeneous-Nuclear Ribonucleoprotein Group C , Humans , Piperazines , Proto-Oncogene Proteins c-mdm2/genetics , Proto-Oncogene Proteins c-mdm2/metabolism , Tumor Suppressor Protein p53/genetics
14.
Genes (Basel) ; 13(4)2022 03 28.
Article in English | MEDLINE | ID: mdl-35456406

ABSTRACT

The fatty acid-binding protein (FABP) family gene encode a group of proteins that affect long-chain fatty acid (LCFAs) trafficking and play a crucial function in the regulation of milk fat synthesis. Nevertheless, little is known regarding the identification of members, theevolutionary background, and functional characteristics of FABP genes in buffalo. In this study, in silico analysis was performed to identify the members of FABPs in buffalo. The results revealed that a total of 17 FABP genes were identified. Based on their phylogenetic relationships, these sequences clustered into five groups with similar motif patterns and gene structures. According to positive selection analyses, all duplicated gene pairs containing FABPs in buffalo had Ka/Ks (nonsynonymous/synonymous) ratios that were less than 1, suggesting that they were under purifying selection. Association analysis showed that one SNP in LOC102401361 was found significantly associated with buffalo milk yield. The expression levels of several FABPs in buffalo mammary epithelial cells were regulated by palmitic and stearic acid treatment. The findings of this study provide valuable information for further research on the role of FABPs in regulating buffalo milk synthesis.


Subject(s)
Buffaloes , Milk , Animals , Biological Evolution , Buffaloes/genetics , Buffaloes/metabolism , Fatty Acid-Binding Proteins/genetics , Fatty Acid-Binding Proteins/metabolism , Milk/metabolism , Phylogeny
15.
BMC Genomics ; 23(1): 181, 2022 Mar 05.
Article in English | MEDLINE | ID: mdl-35247961

ABSTRACT

BACKGROUND: Meiotic recombination is one of the important phenomena contributing to gamete genome diversity. However, except for human and a few model organisms, it is not well studied in livestock, including cattle. RESULTS: To investigate their distributions in the cattle sperm genome, we sequenced 143 single sperms from two Holstein bulls. We mapped meiotic recombination events at high resolution based on phased heterozygous single nucleotide polymorphism (SNP). In the absence of evolutionary selection pressure in fertilization and survival, recombination events in sperm are enriched near distal chromosomal ends, revealing that such a pattern is intrinsic to the molecular mechanism of meiosis. Furthermore, we further validated these findings in single sperms with results derived from sequencing its family trio of diploid genomes and our previous studies of recombination in cattle. CONCLUSIONS: To our knowledge, this is the first large-scale single sperm whole-genome sequencing effort in livestock, which provided useful information for future studies of recombination, genome instability, and male infertility.


Subject(s)
Meiosis , Recombination, Genetic , Animals , Cattle/genetics , Chromosome Mapping , Male , Meiosis/genetics , Polymorphism, Single Nucleotide , Sequence Analysis, DNA/methods , Spermatozoa
16.
BMC Genomics ; 23(1): 215, 2022 Mar 17.
Article in English | MEDLINE | ID: mdl-35300589

ABSTRACT

BACKGROUND: Copy number variation (CNV) has been routinely studied using bulk-cell sequencing. However, CNV is not well studied on the single-cell level except for humans and a few model organisms. RESULTS: We sequenced 143 single sperms of two Holstein bulls, from which we predicted CNV events using 14 single sperms with deep sequencing. We then compared the CNV results derived from single sperms with the bulk-cell sequencing of one bull's family trio of diploid genomes. As a known CNV hotspot, segmental duplications were also predicted using the bovine ARS-UCD1.2 genome. Although the trio CNVs validated only some single sperm CNVs, they still showed a distal chromosomal distribution pattern and significant associations with segmental duplications and satellite repeats. CONCLUSION: Our preliminary results pointed out future research directions and highlighted the importance of uniform whole genome amplification, deep sequence coverage, and dedicated software pipelines for CNV detection using single cell sequencing data.


Subject(s)
DNA Copy Number Variations , Genome , Animals , Cattle/genetics , Male , Segmental Duplications, Genomic , Sequence Analysis, DNA/methods , Spermatozoa
17.
Injury ; 53(4): 1361-1367, 2022 Apr.
Article in English | MEDLINE | ID: mdl-35082056

ABSTRACT

BACKGROUND: Osteonecrosis of femoral head (ONFH) is a pathological state caused by lack of blood supply in femoral head. This study aimed to explore the function of Lycium barbarum polysaccharide (LBP), an antioxidant agent extracted from L. barbarum, on ONFH. METHODS: Osteonecrosis rat model was generated using lipopolysaccharide (LPS) and methylprednisolone followed by examination of body weight, blood glucose, morphology, and BMSC osteoblast differentiation. The effect and underlying mechanism of LBP on the proliferation, apoptosis, and osteoblast differentiation of BMSC were determined with or without LPS or hypoxia treatment using CCK-8. Alizarin Red S staining, flow cytometry, and western blot, respectively. RESULT: LBP could protect against glucocorticoid-induced ONFH in rats, resulting in improved sparse trabecular bone, empty lacunae and bone cell coagulation. Moreover, LBP promoted the proliferation and osteoblast differentiation of bone mesenchymal-derived stem cells (BMSCs) in a dose-dependent manner. Furthermore, LBP enhanced osteoblast differentiation of BMSCs under hypoxia condition. Mechanistically, we found that LBP treatment enhanced Runx2 and ALP expression in BMSCs. LBP restored the expression of Runx2 and ALP under hypoxia, suggesting that LBP might be involved in regulating Runx2/ALP expression and contributed to osteoblast differentiation. Knockdown of Runx2 significantly inhibited BMSCs proliferation, while LBP treatment did not rescue the osteoblast differentiation ability of BMSCs with Runx2 knockdown. CONCLUSION: Our findings suggested that LBP protects against ONFH via regulating Runx2 expression, which could be utilized to treat patients suffering ONFH.


Subject(s)
Drugs, Chinese Herbal , Femur Head Necrosis , Animals , Cell Differentiation , Core Binding Factor Alpha 1 Subunit , Drugs, Chinese Herbal/adverse effects , Femur Head/pathology , Femur Head Necrosis/chemically induced , Femur Head Necrosis/pathology , Femur Head Necrosis/prevention & control , Humans , Osteogenesis , Rats
18.
World J Clin Cases ; 9(7): 1600-1609, 2021 Mar 06.
Article in English | MEDLINE | ID: mdl-33728303

ABSTRACT

BACKGROUND: There are many factors that lead to dwarfism, and the mechanism has not yet been elucidated. Next-generation sequencing may identify candidate-related gene mutations, which may clarify the molecular cause. AIM: To analyze genetic variation by using a constructed panel related to dwarfism by utilizing next-generation sequencing platform sequencing analysis to screen candidate-related gene mutations. METHODS: Physical and laboratory characteristics, including clinical examination, growth hormone drug challenge test, serum insulin-like growth factor-1 (IGF-1), IGF binding protein 3, other related tests, imaging examination, and chromosome karyotyping, were analyzed. Next-generation sequencing was performed to analyze pathogenicity variability. RESULTS: In the 39 dwarfism patients, 10 had pathogenicity variability. Gene variation was found in the OBSL1, SLC26A2, PTPN11, COL27AI, HDAC6, CUL7, FGFR3, DYNC2H1, GH1, and ATP7B genes. Of the 10 patients with pathogenicity variability, the related physical characteristics included double breast development and growth hormone deficiency, enuresis and indirect inguinal hernia on the left, two finger distance of 70.2 cm, head circumference of 49.2 cm, ischium/lower body length of 1.8 cm, weak limb muscles, and partial growth hormone deficiency. After 6 mo of growth hormone therapy, the concentrations of IGF-1 and IGF binding protein 3 increased from 215.2 ± 170.3 to 285.0 ± 166.0 and 3.9 ± 1.4 to 4.2 ± 1.1, respectively. CONCLUSION: OBSL1, SLC26A2, PTPN11, COL27AI, HDAC6, CUL7, FGFR3, DYNC2H1, GH1, and ATP7B genes may be related to the incidence of dwarfism, and more research needs to be performed to elucidate the mechanism.

19.
Pancreatology ; 20(2): 169-176, 2020 Mar.
Article in English | MEDLINE | ID: mdl-31941586

ABSTRACT

OBJECTIVES: The effectiveness of enucleation in treatment for low-grade (G1, G2) small (≤2 cm) non-functional pancreatic neuroendocrine tumors (sNF-pNETs) remains controversial. This study investigated short- and long-term outcome of enucleation comparing with regular pancreatectomy in patients with sNF-pNETs. METHODS: The clinical data of patients with sNF-pNETs who underwent surgery in our hospital from January 2000 to December 2017 were retrospectively collected. Short- and long-term outcomes of two operations were analyzed. The propensity score matching (PSM) was performed to reduce potential selection bias. RESULTS: A total of 123 patients with sNF-pNETs were enrolled with 62 males, 69 G1, and median age was 56.91 ± 10.04 years old. During the follow-up period (mean 87 ± 58.1 months), 9(7.32%) disease progressed (recurrence or metastasis) and 2 died (1.62%), 5-years OS was 100%, 5-years DFS was 91.4%. Both lymph node metastasis (p = 0.117) and pathological grade (p = 0.050) were not prognostic factors for sNF-pNETs. The propensity score-matched cohort comprised 27 patients with enucleation and 44 patients with regular pancreatectomy. Enucleation was noninferior to regular pancreatectomy in terms of DFS, before or after PSM. The surgical duration (P < 0.01) and blood loss (P < 0.01) significantly decreased in enucleation compared with regular pancreatectomy. The other postoperative complications tended to occur in regular pancreatectomy than in enucleation, but no statistically significant difference (all p > 0.05). CONCLUSION: Enucleation seems to be an effective option for the treatment of sNF-pNETs with a lower total rate of postoperative complications and similar long-term prognosis, compared with regular pancreatectomy.


Subject(s)
Pancreatectomy , Pancreatic Neoplasms/surgery , Adult , Aged , Disease Progression , Disease-Free Survival , Female , Follow-Up Studies , Humans , Lymphatic Metastasis , Male , Middle Aged , Postoperative Complications/epidemiology , Prognosis , Propensity Score , Retrospective Studies , Treatment Outcome
20.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-942157

ABSTRACT

OBJECTIVE@#To analyze the risk factors of recurrent kyphosis after removal of short segmental pedicle screw fixation in patients with thoracolumbar burst fractures.@*METHODS@#Retrospective analysis was conducted of 144 cases of thoracolumbar burst fractures without neurological impairment treated in Peking University Third Hospital from January 2010 to December 2017. There were 74 males and 70 females, with an average age of (39.1±13.2) years. The distribution of the injured vertebrae was T12: 42, L1: 72 and L2: 30, with fracture types of A3: 90, B1: 25 and B2: 29. The patients were divided into two groups: Recurrent kyphosis group (n=92) and non-recurrent kyphosis group (n=52). SPSS 26.0 software was used for univariate analysis and Logistic regression analysis.@*RESULTS@#The average follow-up time was 28 (20-113) months. The imaging indexes of pre-operation, 3 days post-operation, 12 months post-operation and the last follow-up were measured and compared. Anterior vertebral body height, segmental kyphosis, vertebral wadge angle and Gardner deformity were significantly improved after operation (P < 0.05), and there were some degrees of loss in the 1-year follow-up; anterior vertebral body height and vertebral wadge angle were no longer changed after the removal of the screws; however, segmental kyphosis and Gardner deformity were still aggravated after the removal of the screws (P < 0.05). There were some degrees of collapse of the height of the upper and lower discs during the follow-up. Univariate analysis showed that there were statistically significant differences (P < 0.05) between the two groups in gender, age (36.9 years vs. 43.0 years), upper disc injury, CT value (174 vs. 160), segmental kyphosis (16.6° vs. 13.3°), vertebral wadge angle (16.7° vs. 13.6°), Gardner deformity (19.1° vs. 15.2°) and ratio of anterior vertebral body height (0.65 vs. 0.71). Logistic regression analysis showed that male (OR: 2.88, 95%CI: 1.196-6.933), upper disc injury (OR: 2.962, 95%CI: 1.062-8.258) and injured vertebral wedge angle were risk factors of recurrent kyphosis after removal of internal fixation for thoracolumbar burst fracture (P < 0.05).@*CONCLUSION@#The patients with thoracolumbar burst fracture can obtain satisfactory effect immediately after posterior short segmental pedicle screw fixation, however, there may be some degree of loss during the follow-up. Male, upper disc injury and injured vertebral wedge angle are the risk factors of recurrent kyphosis after removal of internal fixation for thoracolumbar burst fracture.


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Fracture Fixation, Internal , Kyphosis/surgery , Lumbar Vertebrae/surgery , Pedicle Screws , Retrospective Studies , Risk Factors , Spinal Fractures/surgery , Thoracic Vertebrae/surgery , Treatment Outcome
SELECTION OF CITATIONS
SEARCH DETAIL
...