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Objective: To investigate the clinicopathological features and treatment of gastric alpha-fetoprotein (AFP)-producing adenocarcinoma with SWI/SNF complex deletion. Methods: Four cases of gastric AFP-producing adenocarcinoma with SWI/SNF complex deletion diagnosed in Zhongshan Hospital of Fudan University from January 2021 to December 2022 were collected, and their histomorphological characteristics, immunohistochemical (IHC), in situ hybridization of Epstein-Barr virus-encoded RNA (EBER), next-generation sequencing results, clinicopathological features and treatment were summarized, and literature review was conducted. Results: Among the 4 patients, there were three males and one female. They presented with abdominal pain, belching and melena. Serum AFP was significantly elevated in three patients, and endoscopy showed ulcerative lesions. Microscopically, the tumor cells showed mainly diffuse flaky or nest-like growth and typical characteristics of hepatoid adenocarcinoma. In two cases there were adenoid growth, and the tumor cells in these areas possessed clear cytoplasm, suggesting enteroblastic differentiation. The tumor cell nuclei were pleomorphic with large nucleoli and brisk mitoses. The IHC results showed that the tumor cells expressed AFP, GPC3 and SALL4, and there was retained expression of broad-spectrum keratin (CKpan) and E-cadherin. IHC detection of SWI/SNF complex subunits, namely INI1 (SMARCB1), BRG1 (SMARCA4), BRM (SMARCA2), ARID1A protein was performed. In all four cases the hepatoid adenocarcinoma region and enteroblastic differentiation region showed SMARCA2 deletion, and one case with enteroblastic differentiation also showed ARID1A deletion. SMARCB1 and SMARCA4 deletions were not seen. All the four cases were diffusely positive for p53 protein, and the Ki-67 proliferation index was 80%-90%. There were no mismatch repair deletion detected; one cases showed HER2 was strongly positive (3+), and EBER was negative. None of the four cases had mutations in the SWI/SNF complex-related subunits detected by next-generation sequencing. Among the four patients, two underwent palliative surgery due to distant metastasis at the time of surgery, two underwent radical resection. Postoperative adjuvant chemotherapy was given to three patients. Conclusions: AFP-producing adenocarcinoma is a rare subtype of gastric cancer, which can be combined with SWI/SNF complex deletion, and the pathomorphological manifestations are different from the classical SWI/SNF complex deletion of undifferentiated carcinoma with rhabdoid phenotype.
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Masculino , Humanos , Femenino , alfa-Fetoproteínas , Neoplasias Gástricas/genética , Infecciones por Virus de Epstein-Barr , Herpesvirus Humano 4 , Adenocarcinoma/patología , Biomarcadores de Tumor/genética , ADN Helicasas/genética , Proteínas Nucleares , Factores de Transcripción/genética , GlipicanosRESUMEN
OBJECTIVE@#To analyze the RNA binding protein of Toxoplasma gondii (TgDDX39) using bioinformatics technology, and to evaluate the immunogenicity of TgDDX39, so as to provide insights into development of toxoplasmosis vaccines.@*METHODS@#The amino acid sequences of TgDDX39 were retrieved from the ToxoDB database, and the physicochemical properties, transmembrane structure domain, signal peptide sites, post-translational modification sites, coils, secondary and tertiary structures, hydrophobicity, and antigenic epitopes of the TgDDX39 protein were predicted using online bioinformatics tools, incluiding ProtParam, TMHMM 2.0, SignalP 5.0, NetPhos 3.1, COILS, SOPMA, Phyre2, ProtScale, ABCpred, SYFPEITHI and DNA-STAR.@*RESULTS@#TgDDX39 protein was predicted to be an unstable hydrophilic protein with the molecular formula of C2173H3458N598O661S18, which contained 434 amino acids and had an estimated molecular weight of 49.1 kDa and a theoretical isoelectric point of 5.55. The protein was predicted to have an extremely low possibility of signal peptides, without transmembrane regions, and contain 27 phosphorylation sites. The β turn and random coils accounted for 39.63% of the secondary structure of the TgDDX39 protein, and a coiled helix tended to produce in one site. In addition, the TgDDX39 protein contained multiple B and T cell antigenic epitopes.@*CONCLUSIONS@#Bioinformatics analyses predict that TgDDX39 protein has high immunogenicity and contains multiple antigenic epitopes. TgDDX39 protein is a potential candidate antigen for vaccine development.
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Humanos , Toxoplasma/metabolismo , Toxoplasmosis/prevención & control , Vacunas , Epítopos de Linfocito T , Biología Computacional , Proteínas Protozoarias/químicaRESUMEN
Objetivo: Este estudio retrospectivo tuvo como objetivo evaluar el papel de los parámetros metabólicos de la 18F-FDG PET/TC en el linfoma linfoblástico pediátrico (LBL).Métodos: Treinta pacientes con LBL se sometieron a 42 exploraciones. Los parámetros metabólicos, que incluyeron el valor máximo de captación estandarizado (SUVmax), el volumen tumoral metabólico total (TMTV) y la glucólisis de lesión total (TLG), se midieron en la PET/TC basal. Se realizaron análisis univariantes y multivariantes de la supervivencia para evaluar su valor pronóstico. Doce pacientes se sometieron a PET/TC después del régimen de reinducción, y se calcularon la sensibilidad, la especificidad, el valor predictivo positivo (VPP), el valor predictivo negativo (VPN) y la precisión de la PET/TC para predecir la recaída.Resultados: Los pacientes con estadio IV tuvieron una TMTV más alta que los que tenían un estadio III (p=0,031). Además, los pacientes con T-LBL o afectación mediastínica tenían una TMTV y TLG altos (p<0,05). No hubo diferencias significativas en los parámetros metabólicos de la PET/TC entre los pacientes con diferente evolución (p>0,05). Los niños con una TMTV baja (<242,91cm3) tuvieron una mejor EFS a los 3 años comparados con aquellos con una TMTV elevada (88.9% vs. 56,3%; p=0,036). El SUVmax y el TLG no fueron predictivos de la EFS (p=0,874; p=0,152). Sin embargo, ninguno de los parámetros metabólicos de la PET/TC basales fueron factores pronósticos independientes para los resultados del LBL pediátrico. La PET/TC realizada después del régimen de reinducción presentó una mayor sensibilidad (50% vs. 0%) y VPN (90% vs. 83,3%) para predecir la recaída que la TC sola.Conclusiones: Los parámetros metabólicos de la PET/TC de referencia no fueron predictivos de los resultados en los niños con LBL. La PET/TC realizada después del régimen de reinducción tuvo una mejor sensibilidad y VPN que la TC sola, y una exploración
Objective: This retrospective study aimed to evaluate the role of metabolic parameters of 18F-FDG PET/CT in pediatric lymphoblastic lymphoma (LBL).Methods: Thirty patients with LBL underwent 42 scans. Metabolic parameters including maximum standardized uptake value (SUVmax), total metabolic tumor volume (TMTV), and total lesion glycolysis (TLG) were measured at baseline PET/CT. Univariate and multivariate analysis for survival were performed to assess their prognostic value. Twelve patients underwent PET/CT after reinduction regime, and the sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy of PET/CT for predicting relapse were calculated.Results: Patients with stage IV had a higher TMTV than those with stage III (P=0.031). Besides, patients with T-LBL or mediastinal involvement had a high TMTV and TLG (P<0.05). There was no significant difference in PET/CT metabolic parameters between patients with different outcomes (P>0.05). Children with a low TMTV (<242.91cm3) had a better 3-year EFS compared with those with a high TMTV (88.9% vs. 56.3%; P=0.036). SUVmax and TLG were not predictive of EFS (P=0.874; P=0.152). However, none of the metabolic parameters of baseline PET/CT were independent prognostic factors for outcomes of pediatric LBL. PET/CT underwent after reinduction regime present with higher sensitivity (50% vs. 0%) and NPV (90% vs. 83.3%) for predicting relapse than CT alone.Conclusions: Metabolic parameters of baseline PET/CT were not predictive of outcomes in children with LBL. PET/CT done after the reinduction regime had better sensitivity and NPV than CT alone, and a negative scan could be a reliable indicator for sustained remission (AU)
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Humanos , Masculino , Femenino , Lactante , Preescolar , Niño , Fluorodesoxiglucosa F18 , Radiofármacos , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico por imagen , Tomografía Computarizada por Tomografía de Emisión de Positrones , Recurrencia Local de NeoplasiaRESUMEN
To better practice the Deepening Standardization Reform Plan, announced by the State Council, to promote the leadership of standard in healthy development of preventive medicine and public health, the Chinese Preventive Medicine Association (CPMA) established the Standardization Committee of Chinese Preventive Medicine Association (SC-CPMA). The SC-CPMA was responsible for the work of standardization developments of CPMA, including review of project's qualification and proposal, pre-qualification and qualification review of standard, publicity and training of standard, evaluation of standard implementation, review of standard, and public response monitoring of the standard. At December 13, 2018, CPMA published two group standards, the Technical specification of data processing for large population-based cohort study (T/CPMA 001-2018) and Technical specification of data security for large population-based cohort study (T/CPMA 002-2018). This was the first time that a group standard was published by CPMA and produced for large cohort study's establishment and research. These two standards were the milestones for public health areas and the academic achievement of team, leading by Dr. Li Liming, after decade of research and practice. The two standards were developed based on the China Kadoorie Biobank Study and aimed to formulate professional standards and standardized operation procedures that met the nationals conditions, with strong operability and generality of population cohort establishments. The group standards were also aimed to guide the establishments for other population-based cohort studies to maximum support the decision making and practice for disease control and prevention. The increasing disease burden of non-communicable disease (NCD) became severe public health problem and the etiology for NCD is complex. Large cohort studies, which became more popular recently, played an important role in observation and explanation of NCD etiology and risk factors. Under the current situation with growing number of large cohort studies, it is necessary to have a standard, which could be shared and used to guide other professional as critical scientific protocols. CPMA was committed to promoting the development of group standards in the field of public health, and supporting the implementation of the Healthy China Strategy.
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Humanos , China , Estudios de Cohortes , Atención a la Salud , Salud Pública , Factores de RiesgoRESUMEN
Objective: To understand the awareness of hepatic disease related knowledge among hepatic physicians in poverty-stricken counties in China, assess the effectiveness of training and provide a reference for the training in the future. Methods: The training was conducted in 90 clinical hepatic physicians selected from county hospitals in poverty-stricken counties (or cities) in Shanxi and Shaanxi provinces. An examination was conducted before the training, immediately after the training and at 5(th) month after the training, respectively. One-way analysis of variance and χ(2) test were conducted to evaluate the score and the correct rate. Results: The knowledge score was (42.96±14.02) before the training, (62.86±13.28) immediately after the training and (59.03±17.92) at 5(t)h month after the training, and the differences were significant. After the training, the awareness of all aspects of related knowledge was improved, the difference was significant compared to knowledge score before training, and at 5(th) month after the training, the difference was still significant. Conclusion: After the training, the awareness of liver disease related knowledge of clinical hepatic physicians in poverty-stricken counties (cities) in Shanxi and Shaanxi provinces was improved, and the improvement could be maintained for nearly half a year.
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Femenino , Humanos , Concienciación , China/epidemiología , Competencia Clínica , Conocimientos, Actitudes y Práctica en Salud , Hepatopatías/terapia , Médicos , Áreas de Pobreza , Evaluación de Programas y Proyectos de Salud , Desarrollo de Personal/métodos , Encuestas y CuestionariosRESUMEN
El tejido mamario ectópico se desarrolla debido a la involución incompleta de la cresta mamaria, de localización más frecuente en la axila y más común en mujeres. Este tejido sufre cambios fisiopatológicos similares a los de la mama normal, entre los cuales se encuentra la malignización. El carcinoma primario de este tejido es infrecuente, y su manifestación más común es la masa palpable. Al igual que en la mama normal, la histología más frecuente del cáncer de mama ectópica es el Carcinoma Ductal Infiltrante y, por su localización atípica, suele diagnosticarse tardíamente, y tendría un curso más agresivo y de peor pronóstico, dado por la mayor cercanía a ganglios, piel y pared torácica. Debido a los pocos datos publicados, el diagnóstico y tratamiento no están bien establecidos, pero los esquemas disponibles son similares a los utilizados en el cáncer de mama normal. Se presenta el caso de una paciente de 41 años, con diagnóstico de cáncer de mama ectópica en la región axilar derecha, sin invasión a distancia, tratada con cirugía, quimioterapia y radioterapia, que evoluciona favorablemente, sin metástasis ni recidivas durante seguimiento.
Ectopic mammary tissue develops due to the incomplete involution of the mammary crest, which is more frequently located in the axilla and more common in women. This tissue undergoes pathophysiological changes similar to those of the normal breast, among which malignancy is found. The primary carcinoma of this tissue is infrequent and its most common manifestation is the palpable mass. As in the normal breast, the most frequent histology of ectopic breast cancer is the Infiltrating Ductal Carcinoma and, because of its atypical location, it is usually diagnosed late and it would have a more aggressive course and a worse prognosis, due to the greater proximity to lymph nodes, skin and chest wall. Because of the few published data, the diagnosis and treatment are not well established, but the available schemes are similar to those used in normal breast cancer. We present the case of a 41yearsold female patient with a diagnosis of ectopic breast cancer in the right axillary region, without distant invasion, treated with surgery, chemotherapy and radiotherapy, whoevolves favorably, without metastasis or relapses during follow-up.
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Humanos , Femenino , Adulto , Axila/anomalías , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/patología , Carcinoma Ductal de Mama/patología , Neoplasias de la Mama/terapia , Carcinoma Ductal de Mama/diagnóstico , Carcinoma Ductal de Mama/terapiaRESUMEN
A detailed investigation of left ventricle (LV) flow patterns could improve our understanding of the function of the heart and provide further insight into the mechanisms of heart failure. This study presents patient-specific modelling with magnetic resonance imaging (MRI) to investigate LV blood flow patterns in normal subjects. In the study, the prescribed LV wall movements based on the MRI measurements drove the blood flow in and out of the LV in computational fluid dynamics simulation. For the six subjects studied, the simulated LV flow swirls towards the aortic valve and is ejected into the ascending aorta with a vertical flow pattern that follows the left-hand rule. In diastole, the inflow adopts a reasonably straight route (with no significant secondary flow) towards the apex in the rapid filling phase with slight variations in the jet direction between different cases. When the jet reaches about two thirds of the distance from the inflow plane to the apex, the blood flow starts to change direction and swirls towards the apex. In the more slowly filling phase, a centrally located jet is evident with vortices located on both sides of the jet on an anterior-posterior plane that passes through the mitral and aortic valves. In the inferior-superior plane, a main vortex appears for most of the cases in which an anticlockwise vortex appears for three cases and a clockwise vortex occurs for one case. The simulated flow patterns agree well qualitatively with MRI-measured flow fields.