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1.
World J Pediatr ; 2024 Jul 06.
Artículo en Inglés | MEDLINE | ID: mdl-38970732

RESUMEN

BACKGROUND: Monogenic lupus is defined as systemic lupus erythematosus (SLE)/SLE-like patients with either dominantly or recessively inherited pathogenic variants in a single gene with high penetrance. However, because the clinical phenotype of monogenic SLE is extensive and overlaps with that of classical SLE, it causes a delay in diagnosis and treatment. Currently, there is a lack of early identification models for clinical practitioners to provide early clues for recognition. Our goal was to create a clinical model for the early identification of pediatric monogenic lupus, thereby facilitating early and precise diagnosis and treatment for patients. METHODS: This retrospective cohort study consisted of 41 cases of monogenic lupus treated at the Department of Pediatrics at Peking Union Medical College Hospital from June 2012 to December 2022. The control group consisted of classical SLE patients recruited at a 1:2 ratio. Patients were randomly divided into a training group and a validation group at a 7:3 ratio. A logistic regression model was established based on the least absolute shrinkage and selection operator to generate the coefficient plot. The predictive ability of the model was evaluated using receiver operator characteristic curves and the area under the curve (AUC) index. RESULTS: A total of 41 cases of monogenic lupus patients and 82 cases of classical SLE patients were included. Among the monogenic lupus cases (with a male-to-female ratio of 1:1.05 and ages of onset ranging from birth to 15 years), a total of 18 gene mutations were identified. The variables included in the coefficient plot were age of onset, recurrent infections, intracranial calcifications, growth and developmental delay, abnormal muscle tone, lymphadenopathy/hepatosplenomegaly, and chilblain-like skin rash. Our model demonstrated satisfactory diagnostic performance through internal validation, with an AUC value of 0.97 (95% confidence interval = 0.92-0.97). CONCLUSIONS: We summarized and analyzed the clinical characteristics of pediatric monogenic lupus and developed a predictive model for early identification by clinicians. Clinicians should exercise high vigilance for monogenic lupus when the score exceeds - 9.032299.

2.
J Orthop Surg Res ; 19(1): 111, 2024 Feb 02.
Artículo en Inglés | MEDLINE | ID: mdl-38308324

RESUMEN

The 5'-HOXD genes are important for chondrogenesis in vertebrates, but their roles in osteoarthritis (OA) are still ambiguous. In our study, 5'-HOXD genes involvement contributing to cartilage degradation and OA was investigated. In bioinformatics analysis of 5'-HOXD genes, we obtained the GSE169077 data set related to OA in the GEO and analyzed DEGs using the GEO2R tool attached to the GEO. Then, we screened the mRNA levels of 5'-HOXD genes by quantitative reverse transcriptase-polymerase chain reaction (qRT-PCR). We discovered that OA chondrocyte proliferation was inhibited, and apoptosis was increased. Moreover, it was discovered that SOX9 and COL2A1 were downregulated at mRNA and protein levels, while matrix metalloproteinases (MMPs) and a disintegrin-like and metalloproteinase with thrombospondin motifs (ADAMTSs) were upregulated. According to the results of differentially expressed genes (DEGs) and qRT-PCR, we evaluated the protein level of HOXD11 and found that the expression of HOXD11 was downregulated, reversed to MMPs and ADAMTSs but consistent with the cartilage-specific factors, SOX9 and COL2A1. In the lentivirus transfection experiments, HOXD11 overexpression reversed the effects in OA chondrocytes. In human OA articular cartilage, aberrant subchondral bone was formed in hematoxylin-eosin (H&E) and Safranin O and fast green (SOFG) staining results. Furthermore, according to immunohistochemistry findings, SOX9 and HOXD11 expression was inhibited. The results of this study established that HOXD11 was downregulated in OA cartilage and that overexpression of HOXD11 could prevent cartilage degradation in OA.


Asunto(s)
Cartílago Articular , Osteoartritis , Animales , Humanos , Cartílago Articular/metabolismo , Condrocitos/metabolismo , Metaloproteinasas de la Matriz/metabolismo , Osteoartritis/genética , Osteoartritis/metabolismo , ARN Mensajero/metabolismo , Factores de Transcripción/genética , Factores de Transcripción/metabolismo
3.
Comput Biol Med ; 168: 107786, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-38048662

RESUMEN

The distinction between Xanthogranulomatous Cholecystitis (XGC) and Gallbladder Carcinoma (GBC) is challenging due to their similar imaging features. This study aimed to differentiate between XGC and GBC using a deep learning nomogram model built from contrast enhanced computed tomography (CT) scans. 297 patients were included with confirmed XGC (94) and GBC (203) as the training and internal validation cohort from 2017 to 2021. The deep learning model Resnet-18 with Fourier transformation named FCovResnet18, shows most impressive potential in distinguishing XGC from GBC using 3-phase merged images. The accuracy, precision and area under the curve (AUC) of the model were then calculated. An additional cohort of 74 patients consisting of 22 XGC and 52 GBC patients was enrolled from two subsidiary hospitals as the external validation cohort. The accuracy, precision and AUC achieve 0.98, 0.99, 1.00 in the internal validation cohort and 0.89, 0.92, 0.92 in external validation cohort. A nomogram model combining clinical characteristics and deep learning prediction score showed improved predicting value. Altogether, FCovResnet18 nomogram has demonstrated its ability to effectively differentiate XGC from GBC preoperatively, which significantly aid surgeons in making informed and accurate surgical decisions for XGC and GBC patients.


Asunto(s)
Aprendizaje Profundo , Neoplasias de la Vesícula Biliar , Humanos , Neoplasias de la Vesícula Biliar/diagnóstico por imagen , Neoplasias de la Vesícula Biliar/cirugía , Nomogramas , Diagnóstico Diferencial
4.
Cancers (Basel) ; 15(5)2023 Feb 28.
Artículo en Inglés | MEDLINE | ID: mdl-36900327

RESUMEN

In this study, we considered preoperative prediction of microvascular invasion (MVI) status with deep learning (DL) models for patients with early-stage hepatocellular carcinoma (HCC) (tumor size ≤ 5 cm). Two types of DL models based only on venous phase (VP) of contrast-enhanced computed tomography (CECT) were constructed and validated. From our hospital (First Affiliated Hospital of Zhejiang University, Zhejiang, P.R. China), 559 patients, who had histopathological confirmed MVI status, participated in this study. All preoperative CECT were collected, and the patients were randomly divided into training and validation cohorts at a ratio of 4:1. We proposed a novel transformer-based end-to-end DL model, named MVI-TR, which is a supervised learning method. MVI-TR can capture features automatically from radiomics and perform MVI preoperative assessments. In addition, a popular self-supervised learning method, the contrastive learning model, and the widely used residual networks (ResNets family) were constructed for fair comparisons. With an accuracy of 99.1%, a precision of 99.3%, an area under the curve (AUC) of 0.98, a recalling rate of 98.8%, and an F1-score of 99.1% in the training cohort, MVI-TR achieved superior outcomes. Additionally, the validation cohort's MVI status prediction had the best accuracy (97.2%), precision (97.3%), AUC (0.935), recalling rate (93.1%), and F1-score (95.2%). MVI-TR outperformed other models for predicting MVI status, and showed great preoperative predictive value for early-stage HCC patients.

5.
Huan Jing Ke Xue ; 44(3): 1748-1757, 2023 Mar 08.
Artículo en Chino | MEDLINE | ID: mdl-36922235

RESUMEN

The riparian zone supports important ecological functions and acts as an ecotone connecting terrestrial and aquatic areas. Soil microbes under the revegetation of woody species are crucial to the biogeochemical cycle of nutrients. Here, soil samples were collected to examine the soil microbes during different emergence phases in 2019 (May:T1, July:T2, and September:T3) in the riparian zone of the Three Gorges Reservoir, China. The variations in the bacterial community were evaluated using high-throughput sequencing. The results showed that:during the emergence phases, soil properties such as pH value (pH), ammonium nitrogen (NH4+-N), and nitrate-nitrogen (NO3--N) and soil enzymes changed significantly(P<0.05), and soil bacterial α diversity also changed with time. Except for the Chao1 index, the richness of rhizosphere soil bacteria showed T1>T2>T3, whereas the α diversity of non-rhizosphere soil bacteria showed T3>T1>T2. The redundancy analysis (RDA) test implied that soil urease, NH4+-N, pH, and NO3--N were the key factors structuring the microbial community. Proteobacteria and Acidobacteria were the two dominant components among the 60 phyla that were detected in the soil. Based on phylogenetic investigation of communities by reconstruction of unobserved states (PICRUSt2) prediction, metabolism was the basic function of soil bacterial communities of Taxodium distichum; in the secondary functional layer, the metabolic pathways related to carbon, nitrogen, and phosphorus mainly included amino acid metabolism, carbohydrate metabolism, lipid compound metabolism, and energy metabolism, and the relative abundance of each metabolic function had a certain time difference in different periods. These findings could help us better understand how soil microbes change after restoring vegetation in the Three Gorges Reservoir area.


Asunto(s)
Suelo , Taxodium , Suelo/química , Microbiología del Suelo , Filogenia , Bacterias/genética , Nitrógeno
7.
World J Pediatr ; 18(7): 490-497, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35551623

RESUMEN

BACKGROUND: Aicardi-Goutieres syndrome (AGS) is an inflammatory disorder belonging to the type I interferonopathy group. The clinical diagnosis of AGS is difficult, which can lead to a high mortality rate. Overall, there is a lack of large-sample research data on AGS in China. We aim to summarize the clinical characteristics of Chinese patients with AGS and provide clues for clinical diagnostic. METHODS: The genetic and clinical features of Chinese patients with AGS were collected. Real-time polymerase chain reaction was used to detect expression of interferon-stimulated genes (ISGs). RESULTS: A total of 23 cases were included, consisting of 7 cases of AGS1 with three prime repair exonuclease 1 mutations, 3 of AGS2 with ribonuclease H2 subunit B (RNASEH2B) mutations, 3 of ASG3 with RNASEH2C, 1 of AGS4 with RNASEH2A mutations, 2 of AGS6 with adenosine deaminase acting on RNA 1 mutations, and 7 of AGS7 with interferon induced with helicase C domain 1 mutations. Onset before the age of 3 years occurred in 82.6%. Neurologic involvement was most common (100%), including signs of intracranial calcification which mainly distributed in the bilateral basal ganglia, leukodystrophy, dystonia, epilepsy, brain atrophy and dysphagia. Intellectual disability, language disability and motor skill impairment were also observed. Skin manifestations (60.87%) were dominated by a chilblain-like rash. Features such as microcephaly (47.62%), short stature (52.38%), liver dysfunction (42.11%), thyroid dysfunction (46.15%), positive autoimmune antibodies (66.67%), and elevated erythrocyte sedimentation rate (53.85%) were also found. The phenotypes of 2 cases fulfilled the diagnostic criteria for systemic lupus erythaematosus (SLE). One death was recorded. ISGs expression were elevated. CONCLUSIONS: AGS is a systemic disease that causes sequelae and mortality. A diagnosis of AGS should be considered for patients who have an early onset of chilblain-like rash, intracranial calcification, leukodystrophy, dystonia, developmental delay, positive autoimmune antibodies, and elevated ISGs, and for those diagnosed with SLE with atypical presentation who are nonresponsive to conventional treatments. Comprehensive assessment of vital organ function and symptomatic treatment are important.


Asunto(s)
Eritema Pernio , Distonía , Exantema , Lupus Eritematoso Sistémico , Enfermedades Autoinmunes del Sistema Nervioso , Humanos , Interferones , Mutación , Malformaciones del Sistema Nervioso , Ribonucleasa H/genética
8.
Chinese Journal of Pediatrics ; (12): 114-118, 2022.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-935653

RESUMEN

Objective: To summarize the clinical characteristics of inflammasomopathies, enhance the recognition of those diseases, and help to establish the early diagnosis. Methods: The clinical manifestations including fever, rash, systems involvement as well as laboratory results and genotypic characteristics of 35 children with inflammasomopathies diagnosed by the Department of Pediatrics, Peking Union Medical College Hospital, from January 1, 2008 to December 31, 2020 were analyzed retrospectively. Results: A total of 35 cases of inflammasomopathies were diagnosed, and 20 of them were boys while 15 were girls. Inflammasomopathies patients have early onset, the age of onset as well as diagnostic age were 1 (0,7) and 7 (3,12), respectively. Among those patients, 10 had familial mediterranean fever, 3 had mevalonate kinase deficiency, 15 cases had NLRP3 gene associated autoinflammatory disease, 4 cases had NLRP12-associated autoinflammatory disease, 2 cases had familial cold autoinflammatory syndrome 3, and 1 case had familial cold autoinflammatory syndrome 4. A total of 34 cases (97%) showed recurrent fever, 27 cases (77%) had skin rashes, while 11 cases (31%), 10 cases (29%), and 8 cases (23%) were presented with lymphadenopathy, hepatosplenomegaly and growth retardation, respectively. In terms of systemic involvement, there were 18 cases (51%), 12 cases (34%), 8 cases (23%), and 5 cases (14%) with skeletal, neurological, auditory, and renal involvement, respectively. Central nervous system involvement was seen only in NLRP3 gene associtated autoinflammatory diseases (12 cases), sensorineural deafness was seen in NLRP3 gene associtated autoinflammatory diseases (6 cases) and NLRP12 gene associated autoinflammatory diseases (2 cases), and abdominal pain was observed in familial Mediterranean fever (5 cases), mevalonate kinase deficiency (1 case) and NLRP12 gene related autoinflammatory diseases (1 case). In the acute inflammatory phase, the acute phase reactants (erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP)) of 35 cases (100%) were significantly increased. There were 21 cases received ferritin examination, and only 4 cases (19%) showed an increase of it. In terms of autoantibodies, among all 35 patients, 4 cases (11%) were positive for antinuclear antibodies (ANA). Conclusions: Fever, skin rash, and skeletal manifestations are the most common clinical features, accompanied with increased CRP and ESR, and negative results of autoantibodies such as ANA. The clinical manifestations of those diseases are complex and diverse, and it is prone to delayed diagnosis and treatment.


Asunto(s)
Niño , Femenino , Humanos , Masculino , Fiebre Mediterránea Familiar , Fiebre/etiología , Genotipo , Enfermedades Autoinflamatorias Hereditarias , Estudios Retrospectivos
9.
Phys Chem Chem Phys ; 22(28): 16334-16344, 2020 Jul 22.
Artículo en Inglés | MEDLINE | ID: mdl-32648562

RESUMEN

In this study, the self-assembly behavior of polyelectrolyte (PE) diblock copolymers in solutions containing mixtures of monovalent and multivalent counterions was investigated using molecular dynamics simulation. The properties of the assembled micelles and counterion condensations at different charge fractions of multivalent ions have been discussed. The bridging effect of multivalent ions induces the electrostatic correlations of the PE chains, leading to the fusion of large micelles and the formation of bulky aggregates. Notably, lamellar and well-organized face-centered cubic (FCC) arrangements of the assembled micelles were observed in the mixture of monovalent and trivalent ions. At large fractions of multivalent ions, cylindrical and lamellar precipitates composed of the assembled micelles were formed owing to the inter-connecting coronas. The mixtures of monovalent and multivalent counterions allow the regulation of the electrostatic interactions and tuning of the properties in assembled micelles.

10.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 45(11): 1368-1371, 2020 Nov 28.
Artículo en Inglés, Chino | MEDLINE | ID: mdl-35753753

RESUMEN

OBJECTIVES: To observe the clinical effect and recurrence rate of mitomycin C combined with operation in the treatment of hyperplastic scar of auricle with different diameters. METHODS: A total of 53 patients (67 ears) collected from January 2011 to June 2019 were randomly divided into a combined treatment group (31 ears) and a control group (36 ears). The recurrence rate was observed from one year to three years after operation. RESULTS: The recurrence rate was 52.8% in the control group and 16.1% in the combined treatment group, respectively. For the hyperplastic scar of auricle with diameter from >1.0 cm to 3.0 cm, the recurrence rate was significantly lower in the combined treatment group than that in the control group (χ2=10.804, P<0.05). But there was no significant difference for the hyperplastic scar of auricle with diameter less than 1.0 cm or more than 3.0 cm (both P>0.05). CONCLUSIONS: Mitomycin C combined with surgery can significantly reduce or delay the recurrence rate of middle diameter of hyperplastic scar of auricle, but it does not affect the hyperplastic scar of auricle with too large or too small diameter.

11.
World J Pediatr ; 16(1): 44-51, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31377974

RESUMEN

BACKGROUNDS: Type I interferonopathy is a group of autoinflammatory disorders associated with prominent enhanced type I interferon signaling. The mechanisms are complex, and the clinical phenotypes are diverse. This review briefly summarized the recent progresses of type I interferonopathy focusing on the clinical and molecular features, pathogeneses, diagnoses and potential therapies. DATA SOURCES: Original research articles and literature reviews published in PubMed-indexed journals. RESULTS: Type I interferonopathies include Aicardi-Goutières syndrome, spondyloenchondro-dysplasia with immune dysregulation, stimulator of interferon genes-associated vasculopathy with onset in infancy, X-linked reticulate pigmentary disorder, ubiquitin-specific peptidase 18 deficiency, chronic atypical neutrophilic dermatitis with lipodystrophy, and Singleton-Merten syndrome originally. Other disorders including interferon-stimulated gene 15 deficiency and DNAse II deficiency are believed to be interferonopathies as well. Intracranial calcification, skin vasculopathy, interstitial lung disease, failure to thrive, skeletal development problems and autoimmune features are common. Abnormal responses to nucleic acid stimuli and defective regulation of protein degradation are main mechanisms in disease pathogenesis. First generation Janus kinase inhibitors including baricitinib, tofacitinib and ruxolitinib are useful for disease control. Reverse transcriptase inhibitors seem to be another option for Aicardi-Goutières syndrome. CONCLUSIONS: Tremendous progress has been made for the discovery of type I interferonopathies and responsible genes. Janus kinase inhibitors and other agents have potential therapeutic roles. Future basic, translational and clinical studies towards disease monitoring and powerful therapies are warranted.


Asunto(s)
Enfermedades Autoinmunes/tratamiento farmacológico , Enfermedades Autoinmunes/inmunología , Interferón Tipo I/inmunología , Enfermedades de la Aorta/tratamiento farmacológico , Enfermedades de la Aorta/genética , Enfermedades de la Aorta/inmunología , Enfermedades Autoinmunes/genética , Enfermedades Autoinmunes del Sistema Nervioso/tratamiento farmacológico , Enfermedades Autoinmunes del Sistema Nervioso/genética , Enfermedades Autoinmunes del Sistema Nervioso/inmunología , Niño , Hipoplasia del Esmalte Dental/tratamiento farmacológico , Hipoplasia del Esmalte Dental/genética , Hipoplasia del Esmalte Dental/inmunología , Humanos , Inmunosupresores/uso terapéutico , Interferón Tipo I/genética , Metacarpo/anomalías , Metacarpo/inmunología , Enfermedades Musculares/tratamiento farmacológico , Enfermedades Musculares/genética , Enfermedades Musculares/inmunología , Malformaciones del Sistema Nervioso/tratamiento farmacológico , Malformaciones del Sistema Nervioso/genética , Malformaciones del Sistema Nervioso/inmunología , Odontodisplasia/tratamiento farmacológico , Odontodisplasia/genética , Odontodisplasia/inmunología , Osteoporosis/tratamiento farmacológico , Osteoporosis/genética , Osteoporosis/inmunología , Fenotipo , Inhibidores de Proteínas Quinasas/uso terapéutico , Inhibidores de la Transcriptasa Inversa/uso terapéutico , Calcificación Vascular/tratamiento farmacológico , Calcificación Vascular/genética , Calcificación Vascular/inmunología
12.
Chinese Journal of Hematology ; (12): 28-33, 2020.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-1012135

RESUMEN

Objective: To explore the prognostic effects of mean corpuscular volume (MCV) in patients with myelodysplastic syndromes (MDS) . Methods: 321 newly diagnosed, untransfused primary MDS patients who administered from December 2009 to December 2017 were enrolled. The association of MCV with prognosis and several clinical features and genetic mutations were analyzed. Results: Patients were divided into MCV≤100 fl (n=148) and MCV>100 fl (n=173) cohorts. Median overall survival of patients with MCV≤100 fl was shorter than their counterparts (27 months vs 72 months, P<0.001) . In subgroup analysis, MCV≤100 fl patients had worse survivals in bone marrow blast <5% cohort (34 months vs not reached, P=0.002) , but not so in ≥5 % cohort (17 months vs 20 months, P=0.078) . MCV≤100 fl was still an independent adverse variable (HR=1.890, 95%CI 1.007-3.548, P=0.048) after adjusting for clinical and laboratory variables and mutation topography in bone marrow blasts<5% cohort. In bone marrow blasts<5% cohort, patients with MCV≤100 fl had higher hemoglobin levels [90 (42-153) g/L vs 78.5 (28-146) g/L, P=0.015].The proportions of Revised International Prognostic Scoring System (IPSS-R) high/very high risks and poor/very poor IPSS-R karyotypes were higher in MCV≤100 fl cohort (28.8% vs 10.8%, P=0.003; 24.7% vs 12.9%, P=0.049) . MCV≤100 fl cohort had more genetic mutations than those with MCV>100 fl though without significance (0.988 vs 0.769, P=0.064) . Mutated SF3B1 was less frequently in MCV≤100 fl cohort (4.7% vs 15.4%, P=0.018) . Conclusion: MCV≤100 fl was an independent adverse variable after adjusting for clinical and laboratory variables and mutation topography in MDS patients with bone marrow blasts<5%.


Asunto(s)
Humanos , Médula Ósea , Índices de Eritrocitos , Cariotipificación , Síndromes Mielodisplásicos , Pronóstico
13.
ACS Appl Mater Interfaces ; 11(49): 45763-45775, 2019 Dec 11.
Artículo en Inglés | MEDLINE | ID: mdl-31729855

RESUMEN

Nanofluids in recent years have shown great potential as a chemical enhanced oil recovery (EOR) technology, thanks to their excellent performance in altering interfacial properties. However, because of the great challenge in preparing stable systems suitable for an elevated temperature and a high salinity environment, expanding the application of nanofluids has been greatly restrained. In this work, a novel nanofluid was prepared by integrating positively charged amino-terminated silica nanoparticles (SiNP-NH2) with negatively charged anionic surfactant (Soloterra 964) via electrostatic force. The resulted nanofluid could be stored at relatively high salinity (15 wt % NaCl solution) and high temperature (65 °C) for more than 30 days without aggregation. Successful coating of the surfactant on target SiNPs was verified by Fourier transform infrared spectrometry and the surface charge and size distribution. In addition, the potential of the nanofluid in recovering oil was investigated by analyzing the nanofluid/Bakken oil interfacial tension and the variation trend of the oil contact angle when brine was replaced by nanofluids. Experimental results showed that the water-oil interfacial tension of the Bakken crude oil decreased by 99.85% and the contact angle increased by 237.8% compared to the original value of 13.78 mN/m and 43.4°, respectively, indicating strong oil displacement efficiency and obvious wetting transition from oil-wet toward water-wet. Spontaneous imbibition tests conducted on Berea rocks showed that the nanofluid yielded a high oil recovery rate of 46.61%, compared to that of 11.30, 16.58, and 22.89% for brine, pure SiNP-NH2, and pure surfactant (Soloterra 964), respectively. In addition, when core flooding was applied, a total of 60.88% of the original oil in place could be recovered and an additional oil recovery of 17.23% was achieved in the chemical flooding stage. Moreover, a possible mechanism of the EOR using the nanofluid was proposed. Overall, the developed nanofluid is a promising new material for EOR.

14.
Chinese Journal of Hematology ; (12): 215-221, 2019.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-1011961

RESUMEN

Objective: To explore the clinical implications and prognostic value of TP53 gene mutation and deletion in patients with myelodysplastic syndromes (MDS) . Methods: 112-gene targeted sequencing and interphase fluorescence in situ hybridization (FISH) were used to detect TP53 mutation and deletion in 584 patients with newly diagnosed primary MDS who were admitted from October 2009 to December 2017. The association of TP53 mutation and deletion with several clinical features and their prognostic significance were analyzed. Results: Alterations in TP53 were found in 42 (7.2%) cases. Of these, 31 (5.3%) cases showed TP53 mutation only, 8 (1.4%) cases in TP53 deletion only, 3 (0.5%) cases harboring both mutation and deletion. A total of 37 mutations were detected in 34 patients, most of them (94.6%) were located in the DNA binding domain (exon5-8) , the remaining 2 were located in exon 10 and splice site respectively. Patients with TP53 alterations harbored significantly more mutations than whom without alterations (z=-2.418, P=0.016) . The median age of patients with TP53 alterations was higher than their counterparts[60 (21-78) years old vs 52 (14-83) years old, z=-2.188, P=0.029]. TP53 alterations correlated with complex karyotype and International prognostic scoring system intermediate-2/high significantly (P<0.001) . Median overall survival of patients with TP53 alterations was shorter than the others[13 (95%CI 7.57-18.43) months vs not reached, χ(2)=12.342, P<0.001], while the significance was lost during complex karyotype adjusted analysis in multivariable model. Conclusion: TP53 mutation was more common than deletion in MDS patients. The majority of mutations were located in the DNA binding domain. TP53 alterations were strongly associated with complex karyotype and always coexisted with other gene mutations. TP53 alteration was no longer an independent prognostic factor when complex karyotype were occurred in MDS.


Asunto(s)
Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Humanos , Persona de Mediana Edad , Adulto Joven , Genes p53 , Hibridación Fluorescente in Situ , Mutación , Síndromes Mielodisplásicos/genética , Pronóstico , Proteína p53 Supresora de Tumor
15.
Chinese Journal of Hematology ; (12): 12-16, 2019.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-1011919

RESUMEN

Objective: To evaluate clinical characteristics and prognosis of primary myelofibrosis (PMF) patients with thrombocytopenia in varied degrees. Methods: Clinical features and survival data of 1 305 Chinese patients with PMF were retrospectively analyzed. The prognostic value of thrombocytopenia in patients with PMF was evaluated. Results: 320 subjects (47%) presented severe thrombocytopenia (PLT<50×10(9)/L), 198 ones (15.2%) mild thrombocytopenia [PLT (50-99)×10(9)/L] and 787 ones (60.3%) without thrombocytopenia (PLT ≥ 100×10(9)/L). The more severe the thrombocytopenia, the higher the proportions of HGB<100 g/L, WBC<4×10(9)/L, circulating blasts ≥ 3%, abnormal karyotype and unfavourable cytogenetics (P<0.001, P<0.001, P=0.004, P<0.001 and P<0.001, respectively) were observed in this cohort of patients. The more severe the thrombocytopenia, the lower the proportion of JAK2V617F positive (P<0.001) was also noticed. Platelet count was positively correlated with splenomegaly, HGB and WBC (P<0.001, correlation coefficients were 0.131, 0.445 and 0.156, respectively). Platelet count was negative correlated with constitutional symptoms and circulating blasts (P=0.009, P=0.045, respectively; correlation coefficients were -0.096 and -0.056, respectively). The median survival of patients with severe thrombocytopenia, mild thrombocytopenia and without thrombocytopenia were 32, 67 and 89 months, respectively (P<0.001). Multivariate analysis identified thrombocytopenia in varied degrees (HR=1.693, 95%CI 1.320-2.173, P<0.001) and Dynamic Internation Prognostic Scoring System(DIPSS) prognostic model (HR=2.051, 95%CI 1.511-2.784, P<0.001) as independent risk factors for survival. Conclusion: PMF patients with severe thrombocytopenia frequently displayed anemia, leucopenia, circulating blasts and short survival, so active treatment measures should be taken especially in these patients.


Asunto(s)
Humanos , Mielofibrosis Primaria , Pronóstico , Estudios Retrospectivos , Trombocitopenia
16.
Materials (Basel) ; 12(1)2018 Dec 26.
Artículo en Inglés | MEDLINE | ID: mdl-30587793

RESUMEN

Selective Laser Melting (SLM) has been implemented to address the difficulties in manufacturing complex nickel titanium (NiTi) structures. However, the SLM production of NiTi is much more challenging than the fabrication of conventional metals. Other than the need to have a high density that leads to excellent mechanical properties, strict chemical compositional control is required as well for the SLM NiTi parts to exhibit desirable phase transformation characteristics. In addition, acquiring a high transformation strain from the produced specimens is another challenging task. In the prior research, a new approach-repetitive scanning-was implemented to achieve these objectives. The repetitively scanned samples demonstrated an average of 4.61% transformation strain when subjected to the tensile test. Nevertheless, there is still room for improvement as the conventionally-produced NiTi can exhibit a transformation strain of about 6%. Hence, post-process heat treatment was introduced to improve the shape memory properties of the samples. The results showed an improvement when the samples were heat treated at a temperature of 400 °C for a period of 5 min. The enhancement in the shape memory behavior of the repetitively scanned samples was mainly attributed to the formation of fine Ni4Ti3 metastable precipitates.

17.
Biomed Chromatogr ; 32(11): e4332, 2018 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-29981286

RESUMEN

Hao Jia Xu Re Qing Granules (HJ), is an effective clinically used antipyretic based on traditional Chinese medicine. Although its antipyretic therapeutic effectiveness is obvious, its therapeutic mechanism has not been comprehensively explored yet. In this research, we first identified potential biomarkers which may be relevant for the antipyretic effect of HJ based on urine metabolomics using ultra-performance liquid chromatography-quadrupole time-of-flight mass spectrometry (UPLC-Q-TOF-MS). A rat model of fever was established using the yeast-induced febrile response. Total-ion-current metabolic profiles of different groups were acquired and the data were processed by multivariate statistical analysis-partial least-squares discriminant analysis. As envisioned, the results revealed changes of urine metabolites related to the antipyretic effect. Fourteen potential biomarkers were selected from the urine samples based on the results of Student's t-test, "shrinkage t", variable importance in projection and partial least-squares discriminant analysis. N-Acetylleucine, kynurenic acid, indole-3-ethanol, nicotinuric acid, pantothenic acid and tryptophan were the most significant biomarkers found in the urine samples, and may be crucially related to the antipyretic effect of HJ. Consequently, we propose the hypothesis that the significant antipyretic effect the HJ may be related to the inhibition of tryptophan metabolism. This research thus provides strong theoretical support and further direction to explain the antipyretic mechanism of HJ, laying the foundation for future studies.


Asunto(s)
Antipiréticos/farmacocinética , Biomarcadores/orina , Medicamentos Herbarios Chinos/farmacocinética , Metaboloma/efectos de los fármacos , Metabolómica/métodos , Animales , Antipiréticos/farmacología , Biomarcadores/metabolismo , Cromatografía Líquida de Alta Presión , Modelos Animales de Enfermedad , Medicamentos Herbarios Chinos/farmacología , Femenino , Fiebre/metabolismo , Masculino , Ratas , Ratas Sprague-Dawley , Espectrometría de Masa por Láser de Matriz Asistida de Ionización Desorción
18.
Materials (Basel) ; 11(4)2018 Mar 29.
Artículo en Inglés | MEDLINE | ID: mdl-29596320

RESUMEN

NiTi shape memory alloys (SMAs) have the best combination of properties among the different SMAs. However, the limitations of conventional manufacturing processes and the poor manufacturability of NiTi have critically limited its full potential applicability. Thus, additive manufacturing, commonly known as 3D printing, has the potential to be a solution in fabricating complex NiTi smart structures. Recently, a number of studies on Selective Laser Melting (SLM) of NiTi were conducted to explore the various aspects of SLM-produced NiTi. Compared to producing conventional metals through the SLM process, the fabrication of NiTi SMA is much more challenging. Not only do the produced parts require a high density that leads to good mechanical properties, strict composition control is needed as well for the SLM NiTi to possess suitable phase transformation characteristics. Additionally, obtaining a good shape memory effect from the SLM NiTi samples is another challenging task that requires further understanding. This paper presents the results of the effects of energy density and SLM process parameters on the properties of SLM NiTi. Its shape memory properties and potential applications were then reviewed and discussed.

19.
Sci Rep ; 6: 26487, 2016 05 26.
Artículo en Inglés | MEDLINE | ID: mdl-27225666

RESUMEN

Liver graft size has long been a critical issue in adult-to-adult living donor liver transplantation (LDLT). We analyzed China Liver Transplant Registry data (January 2007-December 2009), identifying 295 patients who underwent LDLT for hepatocellular carcinoma (HCC). The recipients were divided into two groups: A, graft-to-recipient body weight ratio (GRWR) ≤ 0.8% (n = 56); B, GRWR > 0.8% (n = 239). We evaluated donor, recipient, and operative factors and analyzed survival outcome and the risk factors affecting overall and recurrence survival. As a result, the overall survival rates of group B were significantly higher than that of group A (p = 0.009); the corresponding tumor-free survival rates did not differ significantly (p = 0.133). The overall survival rates among the 151 recipients who met the Hangzhou criteria did not differ significantly (p = 0.953), nor did the corresponding tumor-free survival rates (p = 0.893). Multivariate analysis determined that GRWR was a significant risk factor for poor survival but not for early recurrence. In conclusion, small grafts may predict poorer survival outcome but do not indicate earlier HCC recurrence in recipients transplanted for HCC, and survival outcome with smaller grafts is merely acceptable in selected recipients.


Asunto(s)
Carcinoma Hepatocelular/terapia , Neoplasias Hepáticas/terapia , Trasplante de Hígado/métodos , Recurrencia Local de Neoplasia/epidemiología , Adulto , Peso Corporal , China/epidemiología , Femenino , Supervivencia de Injerto , Humanos , Donadores Vivos , Masculino , Persona de Mediana Edad , Tamaño de los Órganos , Sistema de Registros , Análisis de Supervivencia , Resultado del Tratamiento , Adulto Joven
20.
World J Gastrointest Surg ; 8(3): 202-11, 2016 Mar 27.
Artículo en Inglés | MEDLINE | ID: mdl-27022447

RESUMEN

Pancreatic cystic neoplasms have been increasingly recognized recently. Comprising about 16% of all resected pancreatic cystic neoplasms, serous cystic neoplasms are uncommon benign lesions that are usually asymptomatic and found incidentally. Despite overall low risk of malignancy, these pancreatic cysts still generate anxiety, leading to intensive medical investigations with considerable financial cost to health care systems. This review discusses the general background of serous cystic neoplasms, including epidemiology and clinical characteristics, and provides an updated overview of diagnostic approaches based on clinical features, relevant imaging studies and new findings that are being discovered pertaining to diagnostic evaluation. We also concisely discuss and propose management strategies for better quality of life.

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