RESUMO
BACKGROUND: Pseudoachalasia is a rare disease that behaves similarly to achalasia (AC), making it sometimes difficult to differentiate. CASE PRESENTATION: We report a case of 49-year-old male with adenocarcinoma of the gastroesophageal junction misdiagnosed as achalasia. No obvious abnormalities were found in his initial examinations including upper digestive endoscopy, upper gastrointestinal imaging and chest computed tomography (CT). During the subsequent introduced-peroral endoscopic myotomy (POEM), it was found that the mucosal layer and the muscular layer had severe adhesion, which did not receive much attention, delayed the clear diagnosis and effect treatment, and ultimately led to a poor prognosis for the patient. CONCLUSIONS: This case suggests that when patients with AC found mucosal and muscular adhesions during POEM surgery, the possibility should be considered that the lesion may be caused by a malignant lesion.
Assuntos
Acalasia Esofágica , Miotomia , Masculino , Humanos , Pessoa de Meia-Idade , Acalasia Esofágica/diagnóstico , Acalasia Esofágica/cirurgia , Cárdia/cirurgia , Junção Esofagogástrica/cirurgia , Erros de DiagnósticoRESUMO
As a useful tool for genetic engineering, piggyBac (PB) transposons have been widely used in more than one species of transgenosis or generating mutation studies. At present, the studies about PB transposons in cattle were few. In order to get the PB transposon integration sites and summarize its characteristics in bovine genome, donor plasmid of PB[CMV-EGFP] and helper-dependent plasmid of pcDNA-PBase were constructed and transferred into bovine fibroblasts by Amaxa basic nucleofector kit for primary mammalian fibroblasts. Cell clones stably transfected were obtained after screening by G-418. Genomic DNA of transgenic cells was extracted and the integration sites of PB transposon were detected by genome walking technology. Eight integration sites were obtained in bovine genome, although only 5 sites were mapped on chromosomes 1, 2, 11, and X chromosome. We found that PB transposon was inserted into the "TTAA" location and integrated into the intergenic non-regulatory sites between two genes. Analysis of the composition of the five bases, which was close to the side of the PB integration sites "TTAA", showed that PB 5' tended to be inserted into region rich in GC (62.5%). From the study, we got that transposition occurred in cattle genome by PB transposons and the integration site information acquired from the research will provide theoretical references for bovine study by PB transposon.
Assuntos
Bovinos/genética , Elementos de DNA Transponíveis , Animais , Genoma , Plasmídeos , TransfecçãoRESUMO
OBJECTIVES: For resectable esophageal cancer, the choice of total minimally invasive esophagectomy (TMIE) or hybrid minimally invasive esophagectomy (HMIE) remains controversial. The purpose of this study was to evaluate the short-term clinical outcomes of TMIE and HMIE under the Ivor-Lewis procedure. METHODS: The data of 145 patients diagnosed with middle or lower esophageal cancer who underwent radical Ivor-Lewis esophagectomy in the Affiliated Hospital of Qingdao University between January 2018 and December 2019 were retrospectively analyzed. The short-term outcomes such as complications during surgery or within 30 days after surgery and postoperative pain were analyzed. RESULTS: All patients were divided into TMIE group (75 patients) and HMIE group (70 patients). No significant difference was observed in the baseline characteristics of the two groups. TMIE was associated with less blood loss than the HMIE group (p < 0.05). A total of 54 (37.2%) patients had postoperative complications. Although the two groups were statistically similar in the incidence of major complications, patients in the HMIE group were more likely to have pneumonia compared with those in the TMIE group. The numeric rating scale for pain was significantly higher in the HMIE group (p = 0.002) and more patients required an additional opioid analgesia after esophagectomy (p = 0.282). CONCLUSIONS: In conclusion, according to perioperative outcomes, TMIE can benefit patients better than HMIE.
Assuntos
Neoplasias Esofágicas , Laparoscopia , Humanos , Estudos Retrospectivos , Esofagectomia/efeitos adversos , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Complicações Pós-Operatórias/epidemiologia , Resultado do Tratamento , Neoplasias Esofágicas/cirurgia , Laparoscopia/métodosRESUMO
The Boer goat is one of the top meat breeds in modern animal husbandry and has attracted widespread attention for its unique growth performance. However, the genetic basis of muscle development in the Boer goat remains obscure. In this study, we identified specific structural variants in the Boer goat based on genome-wide selection signals and analyzed the basis of the molecular heredity of related candidate genes in muscle development. A total of 9â¯959 autosomal copy number variations (CNVs) were identified through selection signal analysis in 127 goat genomes. Specifically, we confirmed that the highest signal CNV (HSV) was a chromosomal arrangement containing an approximately 1.11 Mb (CHIR17: 60062304-61171840 bp) duplicated fragment inserted in reverse orientation and a 5â¯362 bp deleted region (CHIR17:60145940-60151302 bp) with overlapping genes (e.g., ARHGAP10, NR3C2, EDNRA, PRMT9, and TMEM184C). The homozygous duplicated HSV genotype (+/+) was found in 96% of Boer goats but was not detected in Eurasian goats and was only detected in 4% of indigenous African goats. The expression network of three candidate genes ( ARHGAP10, NR3C2, and EDNRA) regulating dose transcription was constructed by RNA sequencing. Results indicated that these genes were involved in the proliferation and differentiation of skeletal muscle satellite cells (SMSCs) and their overexpression significantly increased the expression of SAA3. The HSV of the Boer goat contributed to superior skeletal muscle growth via the dose effects of overlapping genes.
Assuntos
Cromossomos Humanos Par 17 , Cabras , Animais , Humanos , Cabras/genética , Variações do Número de Cópias de DNA , Genoma , Desenvolvimento MuscularRESUMO
With the implementation of genetic improvement in recent years, artificial selection has greatly improved beef cattle production performance and its genetic basis has been dramatically changed. In this study, based on the Illumina BovineSNP50 (54K) and BovineHD (770K) BeadChip and the FST value, we analyzed the genetic differentiation of cattle and screened the imprints of selection in bovine genome. Finally, we found 47104 OUTLIER SNP loci and 3064 candidate genes, for example, CLIC5, TG, CACNA2D1, and FSHR etc. The biological processes and molecular functions of genes were analyzed through gene annotation.The results of this study established a genome-wide map of selection footprints in beef cattle genome and a clue for in-depth study of artificial selection and understanding of biological evolution.Our results indicate that artificial selection has played an important role in cattle breed genetic improvement.
Assuntos
Bovinos/genética , Polimorfismo de Nucleotídeo Único , Animais , Cruzamento , Marcadores GenéticosRESUMO
The prognosis for pathologically node-negative (pN0) esophageal squamous cell carcinoma (ESCC) with surgery alone remains poor. We aimed to develop a model for a more precise prediction of recurrence, which will allow personalized management for pN0 ESCC after upfront complete resection. Clinical and pathological records of patients with completely resected pT1-3N0M0 ESCC were retrospectively analyzed between January 2014 and December 2019. A nomogram for the prediction of recurrence was established based on the Cox regression analysis and evaluated by C-index, AUC, and calibration curves. The model was further validated using bootstrap resampling and k-fold cross-validation and compared with the 8th edition of the AJCC TNM staging system using Td-ROC, NRI, IDI, and DCA. Two-hundred-and seventy cases were included in this study. The median follow-up was 45 months. Distant and/or loco-regional recurrences were noted in 89 (33.0%) patients. The predictive model revealed pT-category, differentiation, perineural invasion, examined lymph nodes (ELN), and prognostic nutritional index (PNI) as independent risk factors for recurrence, with a c-index of 0.725 in the bootstrapping cohort. Td-ROC, NRI, and IDI showed a better predictive ability than the AJCC 8th TNM staging system. Based on this model, patients in the low-risk group had a significantly lower recurrence incidence than those in the high-risk group (p < .001). The predictive model developed in this study may facilitate the precise prediction of recurrences for pN0 ESCC after upfront surgery. Stratifying management of those patients might bring significantly better survival benefits.
RESUMO
The objective of the present study was to identify polymorphisms of the CACNA2D1 gene, and to analyze associations between these polymorphisms and mastitis in several cattle breeds. Through PCR-RFLP methods and DNA sequencing, an allelic variant corresponding to the AâG mutations and Aspartic (Asp) to Glycine (Gly) amino acid replacement at positions 526745 in the exon 25 of bovine CACNA2D1 gene could be detected. Two alleles, A and G, and three genotypes, AA, AG and GG were defined. Genetic character in the studied populations indicated that the A526745G loci of CACNA2D1 gene was moderate polymorphism and fitted with Hardy-Weinberg equilibrium (P > 0.05). The effects of CACNA2D1 polymorphisms on somatic cell score (SCS) were analyzed and significant association was found between A526745G and SCS. The mean of genotype GG was significantly lower than those of genotype AG and AA (P = 0.0469). Information provided in this research could be useful in further studies to determine the role of CACNA2D1 gene in the mastitis resistance.
Assuntos
Canais de Cálcio/genética , Bovinos/genética , Estudos de Associação Genética , Leite/citologia , Polimorfismo de Nucleotídeo Único/genética , Animais , Cruzamento , Frequência do Gene/genética , Loci Gênicos , GenótipoRESUMO
Thyroid hormones play an important role in regulating metabolism and can affect homeostasis of fat deposition. The gene encoding thyroglobulin (TG), producing the precursor for thyroid hormones, has been proposed as a positional and functional candidate gene for a QTL with an effect on fat deposition. In the present study, we identified 6 novel SNPs at the 3' flanking region of the TG gene. The SNP marker association analysis indicated that the T354C, G392A, A430G and T433G SNP markers were significantly associated with marbling score (P < 0.05). Animals with the new homozygote genotype had higher marbling score than those with the other genotypes. Otherwise, the linkage disequilibrium analysis indicated that these four SNPs were completely linked (r (2) = 1). Results from this study suggest that TG gene-specific SNP may be a useful marker for meat quality traits in future marker assisted selection programs in beef cattle.
Assuntos
Bovinos/genética , Estudos de Associação Genética , Carne/normas , Polimorfismo de Nucleotídeo Único/genética , Característica Quantitativa Herdável , Tireoglobulina/genética , Animais , Sequência de Bases , Frequência do Gene/genética , Marcadores Genéticos , Genótipo , Dados de Sequência Molecular , FenótipoRESUMO
Locally advanced thymic tumor usually invades adjacent great vessels, while the optimal treatment strategy for vessels resection and prosthetic replacement is still in controversial. We hereby present our series of patients undergoing autologous pericardial angioplasty for thymic malignancies. For invasive thymic tumors involving the superior vena cava (SVC), the replacement vessel was prepared by autologous pericardium and placed between the right atrium and distal left innominate vein stump to establish a SVC bypass. Then, the distal right innominate vein and proximal SVC were blocked, and the thymic tumor and involved vessel were completely resected, followed by SVC reconstruction using pericardium. We retrospectively analyzed the clinical characteristics and short-term outcomes of six related patients with autologous pericardial angioplasty. Due to the homologous advantages of autologous pericardial transplantation, those patients didn't need to receive anticoagulant therapy during the perioperative period, so as to avoid the occurrence of hemorrhage, embolism and other graft-related complications. There were no postoperative long-term thoracic drainage (>7 days), anastomotic bleeding, reconstructed vascular stenosis, embolism or even secondary thoracotomy and other related complications occurred in this case series. The application of autologous pericardium for the replacement of mediastinal great vessels in the surgery of locally advanced thymoma is a safe and effective technique. Compared with former artificial materials, such as polytetrafluoroethylene synthetic prosthesis, autologous pericardial transplantation avoids the occurrence of high risk graft-related complications such as postoperative hemorrhage and vascular stenosis, and its clinical application prospect is worth expecting.
RESUMO
BACKGROUND: This study aimed to identify variables associated with anastomotic leakage after esophagectomy and established a tool for anastomotic leakage prediction. METHODS: Twenty-six preoperative and postoperative variables were retrospectively collected from esophageal cancer patients who were treated with radical esophagectomy from January 2018 to June 2020 in the Affiliated Hospital of Qingdao University. SPSS Version 23.0 and Empower Stats software were used for establishing a nomogram after screening relevant variables by univariate and multivariate Logistic regression analyses. The established nomogram was identified by depicting the receiver operating characteristic (ROC) curves and calibration curve, which was verified by 1,000 bootstrap resamples method. RESULTS: A total of 604 eligible esophageal cancer patients were included, of which 51 (8.4%) patients had anastomotic leakage. Multivariate Logistic regression analysis showed that smoking, anastomotic location, anastomotic technique, prognostic nutritional index (PNI) and ASA score were independent risks of anastomotic leakage. The area under curve (AUC) of ROC in the established nomogram was 0.764 (95% CI, 0.69-0.83). The internal validation confirmed that the nomogram had a great discrimination ability (AUC =0.766). Depicted calibration curve demonstrated a well-fitted prediction and observation probability. In addition, the decision curve analysis concluded that the newly established nomogram is significant for clinical decision-making. CONCLUSIONS: This nomogram provided the individual prediction of anastomotic leakage for esophageal cancer patients after surgery, which might benefit treatment results for patients and clinicians, as well as pre-and postoperative intervention strategy-making.
RESUMO
The objective of this study was to identify genetic polymorphisms of the CACNA2D1 gene and to analyze associations between SNPs and carcass and meat quality traits in cattle. Through PCR-RFLP and DNA sequencing methods, a new allelic variant corresponding to the A --> G mutation (aspartic to glycine amino acid replacement) of the bovine CACNA2D1 gene was detected. Two alleles and three genotypes (AA, AG, and GG) were defined. Genetic character indicated that the A526745G locus showed moderate polymorphism and was in Hardy-Weinberg equilibrium. Gene-specific SNP marker association analysis showed that the A526745G mutant was significantly associated with carcass weight, dressing percentage, meat percentage, and backfat thickness. The results add new evidence that CACNA2D1 is an important candidate gene for the selection of carcass and meat quality traits in the cattle industry.
Assuntos
Canais de Cálcio/genética , Bovinos/anatomia & histologia , Bovinos/genética , Carne/normas , Polimorfismo de Nucleotídeo Único , Animais , Cruzamento , Frequência do Gene , Marcadores Genéticos/genética , GenótipoRESUMO
BACKGROUND: The impact of neoadjuvant chemoradiotherapy (nCRT) on early stage esophageal cancer is unknown. Here, we compared the outcomes after esophagectomy alone or nCRT plus surgery for clinically staged node-negative esophageal cancer. METHODS: We searched the Surveillance, Epidemiology, and End Results database for patients with clinically node-negative (cN0) esophageal cancer from 2004 to 2016 who underwent surgery alone or nCRT plus surgery. Propensity score matching and Cox regression analysis were used to identify covariates associated with overall survival and cancer-specific survival. RESULTS: A total of 1587 patients were retrospectively identified, of whom 49.8% (n = 791) received nCRT and 80.2% (n = 1273) were truly node-negative diseases. For the entire cohort, surgery alone was associated with a statistically significant but modest absolute increase in survival outcomes (P < 0.01). After matching, nCRT was associated with improved five-year overall survival for pT3-4N0 (localized) disease (59.6% vs. 37.7%; P < 0.001) and pathological node-positive disease (60.5% vs. 40.7%; P = 0.002). Cox multivariate regression analysis revealed that the addition of nCRT for truly node-negative patients with tumor length ≥ 3 cm, pT1-2N0 (early-staged) and localized disease were independent risk factors for survival than surgery alone (P < 0.01). CONCLUSIONS: Compared with surgery alone, patients with cN0 esophageal cancer with pathological node-positive or localized true node-negative disease gain a significant survival benefit from nCRT. However, nCRT plus surgery was associated with decreased survival for early-staged true node-negative patients. This finding may have significant implications on the use of neoadjuvant chemoradiation in patients with cN0 disease.
Assuntos
Quimiorradioterapia/métodos , Neoplasias Esofágicas/tratamento farmacológico , Neoplasias Esofágicas/radioterapia , Terapia Neoadjuvante/métodos , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Programa de SEERRESUMO
BACKGROUND: The purpose of this study was to analyze the clinical characteristics and prognostic survival of patients with neuroendocrine tumors of the thymus (NETTs), and to develop and validate a nomogram model for predicting the prognosis of patients. METHODS: We conducted a retrospective analysis of patients with neuroendocrine tumors of the thymus in the Surveillance, Epidemiology, and End Results (SEER) database in the United States between 1988 and 2016. Cox scale risk regression analysis, the Kaplan-Meier method and log-rank test were used to carry out the significance test to determine the independent prognostic factors, from which a nomogram for NETTs was established. C-index and calibration curve were used to evaluate the prediction accuracy of the model. External validation of the nomogram was performed using data from our center. RESULTS: A total of 254 patients with NETTs were collected in the SEER database. In the multivariable analysis, T stage, tumor grade, surgery, and chemotherapy were found to be independent factors affecting the prognosis of patients (all P < 0.05). A nomogram model was constructed based on these variables, and its c-index was 0.707 (0.661-0.752). The c-index results showed that the nomogram model had better authentication capability than the eighth edition of the tumor, node, metastasis (TNM) staging system and Masaoka-Koga (MK) staging system. The calibration curve showed that the model could accurately predict patient prognosis. CONCLUSIONS: The study established a nomogram model that predicted the overall survival rate of one-, three- and five-years, and used the survival prediction model to optimize individualized therapy and prognostic follow-up through risk stratification.
Assuntos
Tumores Neuroendócrinos/diagnóstico , Nomogramas , Neoplasias do Timo/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Tumores Neuroendócrinos/mortalidade , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Neoplasias do Timo/mortalidade , Adulto JovemRESUMO
BACKGROUND: This study investigated the prognostic impact of (neo-)adjuvant radiation therapies in early stage esophageal cancer. METHODS: A retrospective analysis using the Surveillance, Epidemiology, and End Results (SEER) database was conducted from 2004 to 2016. Patients with pathologically staged T1-4N0M0 esophageal cancer were divided into two treatment groups: (i) neoadjuvant radiotherapy followed by surgery; and (ii) upfront esophagectomy followed by adjuvant radiotherapy. Propensity scored match and Cox proportional hazards model were used to identify covariates associated with overall survival and cancer-specific survival. RESULTS: There were 821 patients selected, of whom 588 (71.6%) received neoadjuvant radiotherapy and 233 (28.4%) received adjuvant radiotherapy. For the entire cohort, neoadjuvant radiotherapy was associated with a significantly benefit in five-year survival outcomes compared with adjuvant radiotherapy (P < 0.01). After matching, the survival outcomes were still better for neoadjuvant radiotherapy than that of adjuvant treatment. Stratifying based on pathologic tumor status, neoadjuvant radiation was associated with improved CSS (five-year survival 73.7% vs. 42.1%; P = 0.014) for localized (pT3-4N0) disease. The Cox multivariate regression analysis revealed that the addition of neoadjuvant radiation for pT3-4N0 diseases with tumor length ≥ 5 cm and squamous cell carcinoma, was a powerful prognostic factor for improved cancer-specific survival (P < 0.01). CONCLUSIONS: Compared with adjuvant radiotherapy, the addition of neoadjuvant radiation for pT3-4N0 diseases has been associated with improved cancer-specific survival in high-risk patients. Studies on preoperative neoadjuvant therapies would be plausible in high-risk esophageal cancer patients.
Assuntos
Neoplasias Esofágicas/radioterapia , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pontuação de Propensão , Estudos RetrospectivosRESUMO
BACKGROUND: Anastomosis is one of the important factors affecting anastomotic complications after esophagectomy, and multiple reports have compared anastomotic complications among various techniques. However, there is insufficient evidence in the literature to definitively recommend one anastomotic technique over another. METHOD: We retrospectively evaluated 34 consecutive patients who underwent an improved totally mechanical side-to-side: posterior-to-posterior linear stapled (TM-STS) technique for minimally invasive Ivor Lewis esophagogastric anastomosis, performed by a single surgeon between February 2015 to November 2017. The operative techniques and short-term outcomes are analyzed in this study. RESULTS: There were no conversions to an open approach and a complete resection was achieved in all patients undergoing this improved procedure. During the first half of the series, the median operation time was 355 minutes, ranging from 257 to 480 minutes. Over the second half of this series, the median operation time was reduced to 256 minutes. There were no mortalities or serious postoperative complications. Only one patient (2.9%) had an anastomotic leak, which resolved without intervention. Another patient (2.9%) experienced transient, delayed conduit emptying which upper gastrointestinal radiography determined was due to a mechanical obstruction caused by an abnormally long gastric tube in the chest cavity. CONCLUSIONS: The results of our study suggest that this improved TM-STS technique is safe and effective for minimally invasive Ivor Lewis esophagectomy, and can be considered as one of the alternative procedure for patients with lower esophageal as well as Siewert types I/II gastroesophageal junction carcinoma.
Assuntos
Anastomose Cirúrgica/métodos , Neoplasias Esofágicas/cirurgia , Esofagectomia/métodos , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Grampeamento Cirúrgico/métodos , Idoso , Neoplasias Esofágicas/patologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos RetrospectivosRESUMO
BACKGROUND: The impact of adjuvant treatment for esophageal carcinoma with tumor-negative lymph nodes after upfront radical esophagectomy is still uncertain. This study investigated the effects of postoperative radiotherapy in pT1-3N0 esophageal carcinoma after radical resection. METHOD: We retrospectively identified pT1-3N0M0 esophageal carcinoma patients between 2000 and 2016 from the Surveillance, Epidemiology, and End Results database. Patients with upfront esophagectomy were categorized as having received surgery alone (SA) and surgical resection followed by adjuvant radiotherapy (SA + RT). Propensity score matching, univariate and multivariate analysis were performed to compare overall survival (OS) and cause-specific survival (CSS). RESULTS: A total of 2862 patients were identified, of whom 274 received SA + RT and 2588 received SA. The median follow-up was 60.4 months (95%CI, 58.7-62.1 months). The five-year OS and CSS were better for SA group compared with SA + RT group (P < 0.001, respectively). Furthermore, after matching, the OS and CSS were still significantly better for SA patients. For T subgroup analysis, postoperative radiotherapy was an independent prognostic factor only for pT1 patients with worse OS, without survival differences for pT2 and pT3 patients. However, after multivariate cox analysis, postoperative radiotherapy can provide significantly better OS for pT3 patients with tumor length ≥5 cm (P = 0.03; 95%CI, 0.29-0.94). CONCLUSIONS: Among pT1-3N0M0 esophageal carcinoma patients, postoperative radiotherapy can provide significantly better OS for pT3 patients with tumor length ≥5 cm. However, there are no survival benefits for pT1-2 patients after SA + RT procedure. This finding may have significant implications on the use of adjuvant radiation in patients with pN0 disease.
Assuntos
Neoplasias Esofágicas/radioterapia , Carcinoma de Células Escamosas do Esôfago/radioterapia , Radioterapia Adjuvante/mortalidade , Idoso , China/epidemiologia , Neoplasias Esofágicas/epidemiologia , Neoplasias Esofágicas/patologia , Carcinoma de Células Escamosas do Esôfago/epidemiologia , Carcinoma de Células Escamosas do Esôfago/patologia , Feminino , Seguimentos , Humanos , Metástase Linfática , Masculino , Prognóstico , Pontuação de Propensão , Estudos Retrospectivos , Taxa de SobrevidaRESUMO
Background: Polled intersex syndrome (PIS) leads to reproductive disorders in goats and exerts a heavy influence on goat breeding. Since 2001, the core variant of an 11.7 kb deletion at ~129 Mb on chromosome 1 (CHI1) has been widely used as a genetic diagnostic criterion. In 2020, a ~0.48 Mb insertion within the PIS deletion was identified by sequencing in XX intersex goats. However, the suitability of this variation for the diagnosis of intersex goats worldwide and its further molecular genetic mechanism need to be clarified. Results: The whole-genome selective sweep of intersex goats from China was performed with whole-genome next-generation sequencing technology for large sample populations and a case-control study on interbreeds. A series of candidate genes related to the goat intersexuality phenotype were found. We further confirmed that a ~0.48 Mb duplicated fragment (including ERG and KCNJ15) downstream of the ~20 Mb PIS region was reversely inserted into the PIS locus in intersex Chinese goats and was consistent with that in European Saanen and Valais black-necked goats. High-throughput chromosome conformation capture (Hi-C) technology was then used to compare the 3D structures of the PIS variant neighborhood in CHI1 between intersex and non-intersex goats. A newly found structure was validated as an intrachromosomal rearrangement. This inserted duplication changed the original spatial structure of goat CHI1 and caused the appearance of several specific loop structures in the adjacent ~20 kb downstream region of FOXL2. Conclusions: Results suggested that the novel complex PIS variant genome was sufficient as a broad-spectrum clinical diagnostic marker of XX intersexuality in goats from Europe and China. A series of private dense loop structures caused by segment insertion into the PIS deletion might affect the expression of FOXL2 or other neighboring novel candidate genes. However, these structures require further in-depth molecular biological experimental verification. In general, this study provided new insights for future research on the molecular genetic mechanism underlying female-to-male sex reversal in goats.
RESUMO
Tracheal diverticulum is a rarely congenital or acquired tracheal benign entity, characterized by round or spherical out-pouching of the tracheal wall. Most of the tracheal diverticula are asymptomatic disease, and therefore surgical treatment has not been widely reported. Symptomatic diverticula can accept conservative treatment such as anti-inflammatory, postural drainage, etc. Transcervical resection or endoscopic laser surgery or electrosurgery should be considered for patients with severe symptoms or combined with repeated tracheobronchial inflammation. However, there is still insufficient evidence to recommend the optimal therapeutic schedule at present. We describe a special tension tracheal diverticulum with rare symptoms of dysphagia and dizziness for the first time which has a recurrence after interventional sclerotherapy followed by transcervical resection.
RESUMO
BACKGROUND: In this retrospective study, we evaluated the safety and efficacy of video-assisted thoracic surgery (VATS) sleeve lobectomy for patients with centrally located non-small cell lung cancer. METHODS: All consecutive patients who received VATS sleeve lobectomy (n = 54) and thoracotomy sleeve lobectomy (n = 94) were analyzed retrospectively; after propensity score matching, 78 paired cases were selected for further statistical analysis. RESULTS: Among all patients, the VATS group showed significantly better recurrence-free survival and overall survival than the thoracotomy group (P = .025 and P = .026, respectively) with smaller total tumor size and earlier pathological tumor-node-metastasis (TNM) stage. Nevertheless, after matching, the recurrence-free survival (50.9% vs 48.7%; P = .445) and overall survival (79.5% vs 66.7%; P = .198) were not significantly different. There was significantly less blood loss (228 vs 246 mL; P = .022), shorter thoracic drainage stay (4.6 vs 6.8 days; P < .001), and postoperative hospital stay (9.2 vs 11.3 days; P = .033) in the VATS group. Multivariate Cox analyses demonstrated that the surgical procedure was not an independent prognostic factor for recurrence-free survival, not only for patients with an invasive component size of 3 cm or less and negative lymphatic invasion, but for locally advanced patients with an invasive tumor size >3 cm (hazard ratio: 0.94; 95% confidence interval: 0.36-2.45; P = .55) or positive lymphatic invasion (hazard ratio: 0.91; 95% confidence interval: 0.35-2.39; P = .41). CONCLUSIONS: VATS sleeve lobectomy is a safe and effective procedure associated with better postoperative recovery and equivalent oncological results, even for locally advanced non-small cell lung cancer patients with an invasive tumor size larger than 3 cm or accompanying lymphatic invasion.
Assuntos
Carcinoma Pulmonar de Células não Pequenas/cirurgia , Neoplasias Pulmonares/cirurgia , Pneumonectomia/métodos , Pontuação de Propensão , Cirurgia Torácica Vídeoassistida/métodos , Toracotomia/métodos , Brônquios , Carcinoma Pulmonar de Células não Pequenas/diagnóstico , Feminino , Humanos , Neoplasias Pulmonares/diagnóstico , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
BACKGROUND: Multitrait analysis of quantitative trait loci can capture the maximum information of experiment. The maximum-likelihood approach and the least-square approach have been developed to jointly analyze multiple traits, but it is difficult for them to include multiple QTL simultaneously into one model. RESULTS: In this article, we have successfully extended Bayesian composite space approach, which is an efficient model selection method that can easily handle multiple QTL, to multitrait mapping of QTL. There are many statistical innovations of the proposed method compared with Bayesian single trait analysis. The first is that the parameters for all traits are updated jointly by vector or matrix; secondly, for QTL in the same interval that control different traits, the correlation between QTL genotypes is taken into account; thirdly, the information about the relationship of residual error between the traits is also made good use of. The superiority of the new method over separate analysis was demonstrated by both simulated and real data. The computing program was written in FORTRAN and it can be available for request. CONCLUSION: The results suggest that the developed new method is more powerful than separate analysis.