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Lung adenocarcinoma (LUAD) is characterized by a high incidence rate and mortality. Recently, POC1 centriolar protein A (POC1A) has emerged as a potential biomarker for various cancers, contributing to cancer onset and development. However, the association between POC1A and LUAD remains unexplored. We extracted The Cancer Genome Atlas (TCGA) and the Gene Expression Omnibus (GEO) data sets to analyse the differential expression of POC1A and its relationship with clinical stage. Additionally, we performed diagnostic receiver operator characteristic (ROC) curve analysis and Kaplan-Meier (KM) survival analysis to assess the diagnostic and prognostic value of POC1A in LUAD. Furthermore, we investigated the correlation between POC1A expression and immune infiltration, tumour mutation burden (TMB), immune checkpoint expression and drug sensitivity. Finally, we verified POC1A expression using real-time quantitative polymerase chain reaction (RT-qPCR) and immunohistochemistry (IHC). Cell experiments were conducted to validate the effect of POC1A expression on the proliferation, migration and invasion of lung cancer cells. POC1A exhibited overexpression in most tumour tissues, and its overexpression in LUAD was significantly correlated with late-stage presentation and poor prognosis. The high POC1A expression group showed lower levels of immune infiltration but higher levels of immune checkpoint expression and TMB. Moreover, the high POC1A expression group demonstrated sensitivity to multiple drugs. In vitro experiments confirmed that POC1A knockdown led to decreased proliferation, migration, and invasion of lung cancer cells. Our findings suggest that POC1A may contribute to tumour development by modulating the cell cycle and immune cell infiltration. It also represents a potential therapeutic target and marker for the diagnosis and prognosis of LUAD.
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Adenocarcinoma del Pulmón , Neoplasias Pulmonares , Humanos , Adenocarcinoma del Pulmón/genética , Ciclo Celular , Proteínas de Ciclo Celular/genética , Proteínas de Ciclo Celular/metabolismo , División Celular , Proteínas del Citoesqueleto/genética , Proteínas del Citoesqueleto/metabolismo , Neoplasias Pulmonares/genética , Regulación hacia Arriba/genéticaRESUMEN
OBJECTIVES: To investigate the effects of different angles of pulmonary surfactant (PS) administration on the incidence of bronchopulmonary dysplasia and intracranial hemorrhage in preterm infants. METHODS: A prospective study was conducted on 146 preterm infants (gestational age <32 weeks) admitted to the Department of Neonatology, Provincial Hospital Affiliated to Anhui Medical University from January 2019 to May 2023. The infants were randomly assigned to different angles for injection of pulmonary surfactant groups: 0° group (34 cases), 30° group (36 cases), 45° group (38 cases), and 60° group (38 cases). Clinical indicators and outcomes were compared among the groups. RESULTS: The oxygenation index was lower in the 60° group compared with the other three groups, with shorter invasive ventilation time and oxygen use time, and a lower incidence of bronchopulmonary dysplasia than the other three groups (P<0.05). The incidence of intracranial hemorrhage was lower in the 60° group compared to the 0° group (P<0.05). The cure rate in the 60° group was higher than that in the 0° group and the 30° group (P<0.05). CONCLUSIONS: The clinical efficacy of injection of pulmonary surfactant at a 60° angle is higher than other angles, reducing the incidence of intracranial hemorrhage and bronchopulmonary dysplasia in preterm infants.
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Displasia Broncopulmonar , Recien Nacido Prematuro , Hemorragias Intracraneales , Surfactantes Pulmonares , Humanos , Surfactantes Pulmonares/administración & dosificación , Recién Nacido , Estudios Prospectivos , Displasia Broncopulmonar/prevención & control , Displasia Broncopulmonar/tratamiento farmacológico , Displasia Broncopulmonar/etiología , Masculino , Femenino , Hemorragias Intracraneales/prevención & control , Hemorragias Intracraneales/inducido químicamenteRESUMEN
BACKGROUND: Nil by mouth is considered the standard of care during the first days following esophagectomy. However, with the routine implementation of enhanced recovery after surgery, early oral intake is more likely to be the preferred mode of nutrition following esophagectomy. The present study aims to evaluate the safety and effectiveness of early oral intake following esophagectomy for esophageal cancer. METHODS: Comprehensive literature searches were conducted using PubMed, Web of Science, Embase, and Cochrane Library. Weighted mean differences (WMD) and odds ratios (OR) with 95% confidence intervals (CI) were calculated as the effect sizes for continuous and dichotomous variables, respectively. RESULTS: Fourteen studies with a total of 1947 patients were included. Length of hospital stay (WMD = - 3.94, CI: - 4.98 to - 2.90; P < 0.001), the time to first flatus (WMD = - 1.13, CI: - 1.25 to - 1.01; P < 0.001) and defecation (WMD = - 1.26, CI: - 1.82 to - 0.71; P < 0.001) favored the early oral intake group. There was no statistically significant difference in mortality (OR = 1.23, CI: 0.45 to 3.36; P = 0.69). Early oral intake also did not increase the risk of pneumonia and overall postoperative complications. CONCLUSIONS: Current evidence indicates early oral intake following esophagectomy seems to be safe and effective. It may be the preferred mode of nutrition following esophagectomy. However, more high-quality studies are still needed to further validate this conclusion.
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Neoplasias Esofágicas , Esofagectomía , Nutrición Enteral , Neoplasias Esofágicas/cirugía , Esofagectomía/efectos adversos , Humanos , Tiempo de Internación , Complicaciones Posoperatorias/epidemiologíaRESUMEN
BACKGROUND: Esophagectomy and definitive chemoradiotherapy are commonly used in the treatment of stage I esophageal cancer (EC). The present study aims to compare the efficacy and safety of esophagectomy and definitive chemoradiotherapy as the initial treatment for clinical stage I EC. METHODS: This study was registered with the International Prospective Register of Systematic Reviews (CRD42020197203). Relevant studies were identified through PubMed, Web of Science, EMBASE, and Cochrane Library from database inception to June 30, 2020. Hazard ratio (HR) with 95% confidence intervals (CI) was employed to compare overall survival (OS) and progression-free survival (PFS). Odds ratio (OR) with 95% CI was employed to compare treatment-related death, complications, and tumor recurrence. RESULTS: A total of 13 non-randomized controlled studies involving 3,346 patients were included. Compared with definitive chemoradiotherapy, esophagectomy showed an improved OS (HR 0.69, 95% CI 0.55-0.86; P < 0.001), PFS (HR 0.47, 95% CI 0.33-0.67; P < 0.001), and a lower risk of tumor recurrence (OR 0.43, 95% CI 0.30-0.61; P < 0.001). There was no significant difference in the incidence of complications (OR 1.11, 95% CI 0.75-1.65; P = 0.60) and treatment-related death (OR 1.15, 95% CI 0.31-4.30; P = 0.84) between the two treatments. CONCLUSIONS: Current evidence shows esophagectomy has superior survival benefits as the initial treatment for clinical stage I EC. It is still the preferred choice for patients with clinical stage I EC. However, future high-quality randomized controlled trials are needed to validate this conclusion.
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Neoplasias Esofágicas , Esofagectomía , Quimioradioterapia , Neoplasias Esofágicas/patología , Humanos , Recurrencia Local de Neoplasia/cirugíaRESUMEN
INTRODUCTION: To systematically evaluate the safety and advantages of subxiphoid approach video-assisted thoracic surgery (SA-VATS) compared with intercostal approach video-assisted thoracic surgery (IA-VATS) for lung resection, we conducted a meta-analysis of the current literature. MATERIAL AND METHODS: The literature search was conducted in PubMed, Web of Science, Cochrane Library, Embase, and China National Knowledge Infrastructure. RevMan 5.3 software was used to perform this meta-analysis. RESULTS: Eleven studies involving 934 patients were included. Compared with patients in the IA-VATS group, those in the SA-VATS group had lower pain scores on the day of the operation and at 24 h, 48 h and 72 h after the operation (p < .001) and suffered from less postoperative paraesthesia at the first, third and sixth months after the operation (p < .001). Moreover, there was no statistically significant difference between the two groups regarding postoperative complications, intraoperative blood loss, length of hospital stay, drainage amount, or chest tube duration. However, SA-VATS had a longer operative time (p < .001). CONCLUSIONS: SA-VATS is a safe surgical technique and has superior postoperative outcomes over IA-VATS for lung resection in terms of acute postoperative pain and chronic postoperative paraesthesia.
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Pulmón , Cirugía Torácica Asistida por Video , Humanos , Tiempo de Internación , Tempo Operativo , Periodo Posoperatorio , Cirugía Torácica Asistida por Video/métodosRESUMEN
BACKGROUND: Postoperative nutritional therapy is of paramount importance for patients undergoing esophagectomy. The jejunostomy and nasoenteral tube are the popular routes for nutritional therapy. However, which one is the preferred route is unclear. This study aims to analyze the differences in safety and efficacy of the two routes for nutritional therapy. MATERIALS AND METHODS: PubMed, Web of Science, Cochrane Library, and EMBASE (till September 17, 2020) were searched. The primary outcome was postoperative pneumonia. Secondary outcomes were the length of hospital stays (LOS), bowel obstruction, catheter dislocation, anastomotic leakage, overall postoperative complications, and postoperative albumin. Weighted mean differences (WMD) and odds ratios (OR) were calculated for statistical analysis. RESULTS: Ten studies involving a total of 1,531 patients in the jejunostomy group and 1,375 patients in the nasoenteral tube group were included. Compared with patients in the nasoenteral tube group, those in the jejunostomy group had a lower incidence of postoperative pneumonia (OR = 0.68, P < 0.001), shorter LOS (WMD = -0.85, P < 0.001), and lower risk of catheter dislocation (OR = 0.15, P = 0.001). There were no significant differences in the incidence of anastomotic leakage (OR = 0.84, P = 0.43), overall postoperative complications (OR = 0.87, P = 0.59), and postoperative albumin (WMD = -0.40, P = 0.24). However, patients in the jejunostomy group had a higher risk of bowel obstruction (OR = 8.42, P = 0.002). CONCLUSIONS: Jejunostomy for enteral nutrition showed superior outcomes in terms of postoperative pneumonia, LOS, and catheter dislocation. Jejunostomy may be the preferred enteral nutritional route following esophagectomy.
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Nutrición Enteral/métodos , Esofagectomía/efectos adversos , Intubación Gastrointestinal/efectos adversos , Yeyunostomía/efectos adversos , Cuidados Posoperatorios/métodos , Fuga Anastomótica/epidemiología , Fuga Anastomótica/etiología , Fuga Anastomótica/prevención & control , Nutrición Enteral/efectos adversos , Neoplasias Esofágicas/cirugía , Humanos , Incidencia , Obstrucción Intestinal/epidemiología , Obstrucción Intestinal/etiología , Obstrucción Intestinal/prevención & control , Intubación Gastrointestinal/estadística & datos numéricos , Yeyunostomía/estadística & datos numéricos , Tiempo de Internación/estadística & datos numéricos , Neumonía/epidemiología , Neumonía/etiología , Neumonía/prevención & control , Cuidados Posoperatorios/efectos adversos , Cuidados Posoperatorios/estadística & datos numéricos , Resultado del TratamientoRESUMEN
Feeding jejunostomy (FJ) is a routine procedure at the time of esophagectomy in some centers. With the widespread popularization of enhanced recovery after surgery, the necessity of FJ has been increasingly questioned. This study aims to analyze the differences in safety and effectiveness between with (FJ group) or without (no-FJ group) performing FJ at the time of esophagectomy. PubMed, Embase, Web of Science, and Cochrane Library were comprehensively searched for relevant studies, including randomized controlled trials and cohort studies. The primary outcome was the length of hospital stay (LOS). Secondary outcomes were overall postoperative complications, postoperative pneumonia, intestinal obstruction, and weight loss at 3 and 6 months after esophagectomy. Weighted mean differences (WMD) and odds ratios (OR) were calculated for statistical analysis. About 12 studies comprising 2,173 patients were included. The FJ group had a longer LOS (WMD = 2.05, P = 0.01) and a higher incidence of intestinal obstruction (OR = 11.67, P < 0.001) than the no-FJ group. The incidence of overall postoperative complications (OR = 1.24, P = 0.31) and postoperative pneumonia (OR = 1.43, P = 0.13) were not significantly different, nor the weight loss at 3 months (WMD = 0.58, P = 0.24) and 6 months (P > 0.05) after esophagectomy. Current evidence suggests that routinely performing FJ at the time of esophagectomy appears not to generate better postoperative outcomes. FJ may need to be performed selectively rather than routinely. More studies are required to further verify.
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Neoplasias Esofágicas , Esofagectomía , Yeyunostomía , Nutrición Enteral , Neoplasias Esofágicas/cirugía , Humanos , Complicaciones Posoperatorias/epidemiología , Estudios RetrospectivosRESUMEN
A 13-year-old boy was admitted due to intermittent abdominal pain for one year with massive ascites. The purified protein derivative (PPD) test after admission yielded positive results (3+), and ascites examination revealed a yellow color. There were 634×109 nucleated cells/L in the ascites, among which 82.2% were mononuclear cells and 17.8% were multinuclear cells. The Rivalta test yielded a positive result and revealed that the ascites was exudate, suggesting the possibility of tuberculosis infection. The symptoms were not relieved after isoniazid-rifampicin anti-tuberculosis therapy and symptomatic/supportive treatment. Plain CT scan of the abdomen and contrast-enhanced CT showed that the lesion was located at the left wall of the transverse colon, with uneven thickening of the peritoneum and heterogeneous enhancement. Colonoscopic biopsy found signet ring cells in the mucosa and immunohistochemical examination revealed Syn (-), CgA (-), CD56 (-), CK(pan) (+), CDX-2 (+), CK20 (+), Muc-1 (+) and Ki-67 (+, about 80%). PET-CT scan showed an abnormal increase in fluorodeoxyglucose metabolism, which was shown as a mass near the splenic flexure of the transverse colon, with a maximum standard uptake value of 9.9, indicating a highly active lesion; this was consistent with the metabolic changes of malignant tumors. Surgical operation was performed and intraoperative exploration revealed massive ascites, a hard mass located at the hepatic flexure of the colon, involvement of the serous coat and surrounding tissues, stenosis of the bowel, lymph node enlargement around the superior mesenteric vessels and the gastrocolic ligament, and multiple metastatic nodules in the greater omentum, the abdominal wall and the pelvic cavity. The results of postoperative pathology were consistent with those of colonoscopic biopsy, i.e., poorly differentiated mucinous adenocarcinoma of the transverse colon and partly signet-ring cell carcinoma. Therefore, the boy was diagnosed with colon signet-ring cell carcinoma with peritoneal metastasis and tuberculosis infection. When a child is suffering from intractable abdominal pain, unexplained intestinal obstruction and massive intractable ascites, the possibility of malignancy should be considered. Abdominal plain CT scan as well as contrast-enhanced CT scan should be performed as early as possible, and enteroscopy should be performed when necessary.
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Dolor Abdominal , Ascitis , Tomografía Computarizada por Tomografía de Emisión de Positrones , Abdomen , Dolor Abdominal/etiología , Adolescente , Ascitis/complicaciones , Fatiga/etiología , Humanos , Masculino , Tomografía Computarizada por Rayos XRESUMEN
OBJECTIVE: To explore the clinical efficacy of intratracheal instillation of pulmonary surfactant (PS) combined with budesonide for preventing bronchopulmonary dysplasia (BPD) in very low birth weight (VLBW) infants. METHODS: Thirty VLBW infants with gestational age <32 weeks who developed neonatal respiratory distress syndrome (NRDS) (grade III-IV) suffering from intrauterine infection were randomly assigned into a PS + budesonide group and a PS alone group. The changes were compared between the two groups in arterial blood gas indexes, oxygenation index (OI), duration of mechanical ventilation, duration of oxygen supplementation, incidence of BPD, mortality rate at 36 weeks corrected gestational age and incidences of other complications except BPD. RESULTS: Compared with the PS alone group, the PS+budesonide group had a lower incidence of BPD, shorter duration of mechanical ventilation and oxygen supplementation (P<0.05). On the 2nd to 6th day after treatment, the PS+budesonide group had higher pH value of arterial blood gas and OI and lower carbon dioxide partial pressure compared with the PS alone group (P<0.05). There were no significant differences in the mortality rate at 36 weeks corrected gestational age and the incidences of other complications except BPD between the two groups (P>0.05). CONCLUSIONS: Intratracheal instillation of PS combined with budesonide can effectively reduce the incidence of BPD in VLBW premature infants with severe NRDS.
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Displasia Broncopulmonar/prevención & control , Budesonida/administración & dosificación , Recién Nacido de muy Bajo Peso , Surfactantes Pulmonares/administración & dosificación , Síndrome de Dificultad Respiratoria del Recién Nacido/tratamiento farmacológico , Femenino , Humanos , Recién Nacido , Masculino , Respiración ArtificialRESUMEN
PURPOSE: In this study, we examined the current status of myopia among primary and secondary school children in northeastern Sichuan to analyze the factors connected to myopia and provide data support and a theoretical foundation for the prevention and control of myopia. METHODS: Using a cross-sectional study and a comprehensive sampling survey, 34,138 students aged 5-19 years were screened for refraction in 22 primary and secondary schools in Langzhong, and 4000 behavioral questionnaires were delivered at random. After evaluation and rational problem-solving, a total of 3764 valid questionnaires were obtained. SPSS 23.0 statistical software was used for data analysis. RESULTS: The percentage of myopia among primary and secondary school students in Langzhong was 65.61%, with female students having a higher rate than male students ( P < 0.05); 52.81% of primary school students, 86.26% of secondary school students, and 88.17% of high school students had myopia. The incidence of myopia detection increased with school age ( P < 0.001), indicating a correlation between age and myopia prevalence. The prevalence of myopia was mainly low (40.53%) and moderate myopia (19.89%). The prevalence of high myopia (5.19%) was relatively high. The prevalence of myopia among female students (5.54%) was greater than that in male students ( P < 0.05) and increased with age ( P < 0.001). The proportion of students who wore eyeglasses was 24.36%, with a larger proportion of female students (25.93%) than male students (22.61%) ( P < 0.001). In addition, the rate of eyeglass use increased with school age ( P < 0.001). A logistic regression analysis revealed that higher grade point averages, female gender, and long-term usage of electronic items were risk factors for myopia. The results of the questionnaire survey revealed that students in this region were under immense pressure to perform well academically, spent a lot of time engaged in near-work activities, and had a low rate of myopia awareness; 24.43% of the students had not had a vision examination in the previous year, indicating that parents did not pay sufficient attention to eye health. CONCLUSION: The incidence of myopia among children and teenagers is high in Northeast Sichuan, and the outlook for addressing the problem is bleak. Therefore, it is critical to improve vision monitoring and eye health education.
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Background: Astigmatism is closely associated with myopia progression, vision loss, eye fatigue and amblyopia, which seriously endangers children's eye health. This study aims to investigate the prevalence and characteristic distribution of astigmatism in children in Langzhong City, providing valuable insights for allocating resources and develop prevention and control strategies. Methods: A cross-sectional study and random sampling survey were conducted. Between January and November 2021, 21,415 students aged 5 to 13 years from 14 primary schools in Langzhong City underwent non-cycloplegic refractive testing using autorefraction. The data on myopia were analyzed using SPSS (Statistical Package for the Social Sciences) version 23.0. Results: The inclusion criterion was set at an absolute astigmatism value of ≥0.50D. Among the 21,415 children studied, 61.70% were found to have astigmatism. The prevalence of astigmatism varied significantly across different grades (χ2=501.414, P<0.001). The predominant types of astigmatism were mild astigmatism (0.50-1.00D) and with-the-rule astigmatism. Mixed astigmatism was primarily observed in children in grades 1 and 2, while compound myopic astigmatism was more common in children in grades 3 to 6. These differences were statistically significant. As the degree of astigmatism increased, the proportions of against-the-rule astigmatism, oblique astigmatism, compound myopic astigmatism, and simple hyperopic astigmatism decreased, whereas the proportions of with-the-rule astigmatism, mixed astigmatism, and compound hyperopic astigmatism increased. Conclusions: The prevalence of astigmatism among school-age children aged 5 to 13 years in northeast Sichuan is notably high, with compound myopic astigmatism and with-the-rule astigmatism being the most common types. Regular refractive examinations are crucial for the early detection and management of astigmatism.
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Background: Esophagectomy is still advised as an additional treatment for patients with superficial esophageal cancer (EC, T1a-T1b) after endoscopic resection (ER). However, esophagectomy often deteriorates the general condition of EC patients. In recent years, adjuvant chemoradiotherapy (CRT) has been recognized as a reliable, non-surgical treatment that can improve the prognosis. How to combine ER with adjuvant therapy to bring maximal benefits to patients has become a hot clinical research hot topic. However, the current studies have mostly been conducted retrospectively, in single centers, and with small clinical samples; there have been few prospective and large sample size randomized controlled trials (RCTs). The aim of this systematic review and meta-analysis was to compare the outcomes of adjuvant CRT versus esophagectomy in the treatment of early EC, and to provide a reference for clinical research and practice. Methods: A comprehensive and extensive literature search was performed via the databases of PubMed, Cochrane Library, Embase, and Web of Science online and all randomized cohort studies and retrospective cohort studies were collected. The quality of research was evaluated according to Cochrane's quality standards, and statistical analysis was conducted with Stata 13.0 and RevMan 5.3 software and followed the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA). Results: A total of 9 cohort studies, including 790 patients, were included for meta-analysis. The long term effects of the esophagectomy group were better than those of the CRT after ER group [odds ratio (OR) =6.08, 95% confidence interval (CI): 1.96 to 18.84, P=0.002] in disease-free survival (DFS) [hazard ratio (HR) =0.24, 95% CI: 0.07 to 0.85, P=0.03] and overall survival (OS) (HR =1.02, 95% CI: 0.57 to 1.82, P=0.94). Other survival indicators showed no significant difference (P>0.05). Conclusions: The 2 groups showed no significant results in OS. Although we found that CRT may be suitable for patients with high-risk of relapse or unable to tolerate surgery, it cannot totally replace surgical treatment; further randomized trials are required to verify this view.
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OBJECTIVE: To explore the relationship between Protein Phosphatase 1 Regulatory Inhibitor Subunit 14B (PPP1R14B) and the occurrence of lung adenocarcinoma (LUAD). METHOD: PPP1R14B expression was investigated using various databases, and its molecular functions and pathways were evaluated using Gene Set Variation Analysis (GSVA) and Gene Set Enrichment Analysis (GSEA). Then, the correlation between tumor mutations and PPP1R14B expression was analyzed. Furthermore, the regulation network and expression pathway axes of PPP1R14B were constructed. The correlation analysis between PPP1R14B and immune cell infiltration was performed using deconvolution algorithm analysis and the Tumor Immune Dysfunction and Exclusion (TIDE) algorithm. Finally, quantitative real-time polymerase chain reaction (qRT-PCR) and immunohistochemical (IHC) staining of the clinical samples were used for expression validation. RESULTS: PPP1R14B showed high expression in tumor tissue. PPP1R14B was associated with T and N stages and poor prognosis and was linked to the cell cycle, DNA repair, and low immune response. High PPP1R14B expression was associated with high tumor mutation rates. The upstream and downstream genes of PPP1R14B were identified, along with the construction of a protein-protein interaction network (PPI network) and the expression pathway axes of PPP1R14B. PPP1R14B expression was associated with poor immune cell infiltration and a negative correlation between PPP1R14B and mast cell and eosinophil infiltration. CONCLUSION: This study reveals high PPP1R14B expression in LUAD, its contribution to poor prognosis, molecular function, biological pathways, and impact on immune cell infiltration, and provides great insight into the role of PPP1R14B in LUAD tumorigenesis.
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Background: Lung adenocarcinoma (LUAD) has high morbidity and mortality. Current studies indicate nucleoporin 107 (NUP107) is involved in the construction of nuclear pore complex, and NUP107 overexpression contributes to the growth and development in most types of cancers, but its effect in LUAD has not been elucidated. Methods: Differences in NUP107 expression were investigated using the Cancer Genome Atlas (TCGA) and multiple Gene Expression Omnibus (GEO) data sets. Enrichment analysis were implemented to probe the NUP107 function. The association of NUP107 with the degree of immune cell infiltration was investigated by the TIMER database, single-sample gene set enrichment analysis (ssGSEA), and ESTIMATE. The association of NUP107 expression with tumor mutation burden (TMB), TP53, and immune checkpoint was analyzed. Single-cell RNA sequencing data were used to detect NUP107 expression in different cell clusters. Finally, we performed real-time quantitative polymerase chain reaction (RT-qPCR) and immunohistochemistry (IHC) to prove the difference of NUP107 expression. Results: NUP107 was overexpressed in LUAD and mainly expressed in cancer stem cell (CSC). Overexpression of NUP107 in LUAD suggested a poorer prognosis. Functional enrichment analysis pointed out that NUP107 was mainly linked to the regulation of cell cycle. Both immune cell infiltration and TMB were found to be in connection with NUP107. Cases in the group with high NUP107 expression had poorer immune infiltration, but had higher expression of immune checkpoints, TMB, and proportion of TP53 mutations. Conclusion: NUP107 is a sensitive diagnostic and prognostic factor for LUAD and may be involved in tumor progression through its effects on cell cycle and immune infiltration.
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Chest wall tumors are a relatively uncommon disease in clinical practice. Most of the published studies about chest wall tumors are usually single-center retrospective studies, involving few patients. Therefore, evidences regarding clinical conclusions about chest wall tumors are lacking, and some controversial issues have still to be agreed upon. In January 2019, 73 experts in thoracic surgery, plastic surgery, science, and engineering jointly released the Chinese Expert Consensus on Chest Wall Tumor Resection and Chest Wall Reconstruction (2018 edition). After that, numerous experts put forward new perspectives on some academic issues in this version of the consensus, pointing out the necessity to further discuss the points of contention. Thus, we conducted a survey through the administration of a questionnaire among 85 experts in the world. Consensus has been reached on some major points as follows. (I) Wide excision should be performed for desmoid tumor (DT) of chest wall. After excluding the distant metastasis by multi-disciplinary team, solitary sternal plasmacytoma can be treated with extensive resection and adjuvant radiotherapy. (II) Wide excision with above 2 cm margin distance should be attempted to obtain R0 resection margin for chest wall tumor unless the tumor involves vital organs or structures, including the great vessels, heart, trachea, joints, and spine. (III) For patients with chest wall tumors undergoing unplanned excision (UE) for the first time, it is necessary to carry out wide excision as soon as possible within 1-3 months following the previous surgery. (IV) Current Tumor Node Metastasis staging criteria (American Joint Committee on Cancer) of bone tumor and soft tissue sarcoma are not suitable for chest wall sarcomas. (V) It is necessary to use rigid implants for chest wall reconstruction once the maximum diameter of the chest wall defect exceeds 5 cm in adults and adolescents. (VI) For non-small cell lung cancer (NSCLC) invading the chest wall, wide excision with neoadjuvant and/or adjuvant therapy are recommended for patients with stage T3-4N0-1M0. As clear guidelines are lacking, these consensus statements on controversial issues on chest wall tumors and resection could possibly serve as further guidance in clinical practice during the upcoming years.
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The object of the study was to elucidate the mutations of the GATA4 gene in Han ancestry patients with congenital cardiac septal defects. Fifty Han ancestry patients with sporadic and familial cardiac septal defects and 200 normal subjects of the same ethnical background were studied. A total of six exons and the intron-exon boundaries of GATA4 were amplified by polymerase chain reaction (PCR). The PCR products were purified and directly sequenced with an ABI PRISM 3730 Automatic DNA sequencer. Two novel heterozygous mutations were discovered in the GATA4 gene in five children with cardiac septal defects (10%, 5/50), His28Tyr in exon 2 and His436Tyr in exon 7, respectively, which were neither found in the control population nor reported in the SNP database at the website http://www.ncbi.nlm.nih.gov/SNP. In addition, we did not identify any mutations in GATA4 in three familial atrial septal defects and two familial ventricular septal defects. Our finding suggests that the mutations in the transcription factor GATA4 might be related to congenital cardiac septal defects in Han ancestry patients.
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Pueblo Asiatico/genética , Factor de Transcripción GATA4/genética , Defectos de los Tabiques Cardíacos/genética , Mutación , Estudios de Casos y Controles , Niño , Preescolar , China , Femenino , Humanos , Lactante , MasculinoRESUMEN
OBJECTIVE: To perform the functional analysis of a novel H436Y mutation of GATA-4 gene identified in Han Chinese patients with congenital cardiac septal defects. METHODS: Using bioinformatics to predict if the H436Y mutation in the GATA-4 gene affects its protein function. H436Y mutation in the GATA-4 gene was generated by Quick Change Lightning site-directed mutagenesis kit and verified by DNA sequencing. GATA-4-wt or GATA-4-mut DNA was cotransfected into Hela cells with DNA for the luciferase reporter gene atrial natriuretic factor (ANF), and luciferase activity was measured by an LKB luminometer 48 h after transient transfection. RESULTS: Alignment of the GATA-4 amino acid sequence indicated that the histidine residue at position 436 was conserved, and H436Y mutation in the GATA-4 gene is expected to affect its protein function. The H436Y mutation significantly reduced the transcriptional activation of downstream reporter ANF when compared to wild-type GATA-4 (P<0.01). CONCLUSION: The mutation c.1306C-->T of the GATA-4 gene impaired the activation of the downstream target, suggesting that the H436Y mutation in the C-terminal region of the GATA-4 gene might prevent its biological function.
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Factor de Transcripción GATA4/genética , Defectos de los Tabiques Cardíacos/genética , Análisis de Secuencia de ADN , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Datos de Secuencia Molecular , Mutagénesis Sitio-Dirigida , Alineación de Secuencia , Adulto JovenRESUMEN
OBJECTIVE: To elucidate the association between GATA-4 gene mutations and congenital cardiac septal defects in Han Chinese patients. METHODS: Fifty Han Chinese patients with congenital cardiac septal defects and 100 normal subjects with the same ethnical background were studied. Total six exons and the intron-exon boundaries of GATA-4 were amplified by the polymerase chain reaction. The polymerase chain reaction products were purified and directly sequenced with automatic sequencer. RESULTS: Two novel heterozygous mutations were discovered in the GATA-4 gene of patients with congenital cardiac septal defects, His28Tyr in exon 2 and His436Tyr in exon 7 respectively, which were absent in the control population and not reported in the SNP database (http://www.ncbi.nlm.nih.gov/SNP). CONCLUSION: Our finding suggests that the mutations in the transcription factor GATA-4 may be related to congenital cardiac septal defects in Han Chinese patients.
Asunto(s)
Factor de Transcripción GATA4/genética , Defectos de los Tabiques Cardíacos/genética , Mutación , Adolescente , Adulto , Pueblo Asiatico/etnología , Niño , Preescolar , Exones , Femenino , Genotipo , Defectos de los Tabiques Cardíacos/etnología , Heterocigoto , Humanos , Lactante , Masculino , Adulto JovenRESUMEN
BACKGROUND: Many studies have investigated the prognostic role of E-cadherin in patients with NSCLC; however, the result still remains inconclusive. An up-to data system review and meta-analysis was necessary to give a comprehensive evaluation of prognostic role of E-cadherin in NSCLC. METHODS: Eligible studies were searched in Pubmed, Embase and Web of Science databases. The inclusion criteria were studies that assessed the relationship between E-cadherin expression detected by immunohistochemistry (IHC) and the prognosis or clinicopathological features in patients with NSCLC. Subgroup analysis according to race, percentage of reduced/negative E-cadherin expression, histological type, and sample size were also conducted. Odds ratio (OR) or hazard ratio (HR) with 95% confidence interval (CI) were calculated to examine the risk or hazard association. RESULTS: A total of 29 studies including 4010 patients were qualified for analysis. The analysis suggested that downregulated E-cadherin expression was significant associated with unfavorable overall survival (OS) and disease-free survival/progression-free survival (DFS/PFS) in patients with NSCLC. Subgroup analysis by race, percentage of reduced/negative E-cadherin expression, sample size also found the significant association in OS. When only the stage I NSCLC were considered, downregulated E-cadherin expression still had an unfavorable impact on OS. Additionally, downregulated E-cadherin expression was significantly associated with differentiation grade, lymphnode metastasis, vascular invasion, and TNM stage. CONCLUSION: Downregulated E-cadherin expression detected by IHC seems to correlate with tumour progression and could serve as an important prognostic factor in patients with NSCLC.