Single-cell profiling of response to neoadjuvant chemo-immunotherapy in surgically resectable esophageal squamous cell carcinoma.

Background: The efficacy of neoadjuvant chemo-immunotherapy (NAT) in esophageal squamous cell carcinoma (ESCC) is challenged by the intricate interplay within the tumor microenvironment (TME). Unveiling the immune landscape of ESCC in the context of NAT could shed light on heterogeneity and optimize therapeutic strategies for patients.

Methods: We analyzed single cells from 22 baseline and 24 post-NAT treatment samples of stage II/III ESCC patients to explore the association between the immune landscape and pathological response to neoadjuvant anti-PD-1 combination therapy, including pathological complete response (pCR), major pathological response (MPR), and incomplete pathological response (IPR).

Comparative study of the clinical efficacy of subcostal thoracoscopy and median sternotomy in treating thymoma: a propensity score-matching analysis.

Objective: This study was performed to evaluate the clinical efficacy of subcostal thoracoscopy and median sternotomy as surgical approaches for thymoma resection and lymph node dissection. The feasibility, safety, and clinical outcomes of subcostal thoracoscopy were compared with those of median sternotomy.

Methods: The clinical data of 335 patients with thymoma were retrospectively analyzed.

Construction of a novel disulfidptosis-related signature for improving outcomes in hepatocellular carcinoma: Observational study.

Disulfidptosis is a novel form of metabolic-related regulated cell death (RCD) that is caused by disulfide stress caused by the accumulation of excess cystine in the cell. Targeting disulfide metabolism imbalance is an emerging strategy for the treatment of cancer. However, it is undetermined how disulfidptosis-related genes (DRGs) influence hepatocellular carcinoma (HCC).

Neoadjuvant Camrelizumab Plus Platinum-Based Chemotherapy vs Chemotherapy Alone for Chinese Patients With Resectable Stage IIIA or IIIB (T3N2) Non-Small Cell Lung Cancer: The TD-FOREKNOW Randomized Clinical Trial.

Importance: The benefit of neoadjuvant camrelizumab plus chemotherapy for resectable stage IIIA or IIIB non-small cell lung cancer (NSCLC) remains unknown.

Objective: To assess the efficacy and safety of neoadjuvant camrelizumab plus chemotherapy vs chemotherapy alone for patients with resectable stage IIIA or IIIB NSCLC.

Design, Setting, And Participants: In this randomized phase 2 clinical trial conducted at 2 hospitals in China, patients aged 18 to 70 years with resectable stage IIIA or IIIB (T3N2) NSCLC were enrolled between April 7, 2020, and January 12, 2022.

CircGFPT1 regulates the growth and apoptosis of esophageal squamous cell carcinoma through miR-142-5p/HAX1 axis.

Background: Currently, multiple circular RNAs (circRNAs) have been verified to act as essential regulators in the progression of esophageal squamous cell carcinoma (ESCC). However, there is no study regarding the role of circGFPT1 in the progression of cancers including ESCC. We aimed to investigate the role of circGFPT1 in ESCC progression.

Fully convolutional neural network and PPG signal for arterial blood pressure waveform estimation.

. The quality of the arterial blood pressure (ABP) waveform is crucial for predicting the value of blood pressure. The ABP waveform is predicted through experiments, and then Systolic blood pressure (SBP), Diastolic blood pressure, (DBP), and Mean arterial pressure (MAP) information are estimated from the ABP waveform.

Relationships between Secreted Aspartyl Proteinase 2 and General Control Nonderepressible 4 gene in the Candida albicans resistant to itraconazole under planktonic and biofilm conditions.

This study aimed to explore the roles of SAP2 and GCN4 in itraconazole (ITR) resistance of C. albicans under different conditions, and their correlations. A total of 20 clinical strains of C.

Subtype-based analysis of cell-in-cell structures in non-small cell lung cancer.

Lung cancer is ranked as the leading cause of cancer-related death worldwide, and the development of novel biomarkers is helpful to improve the prognosis of non-small cell lung cancer (NSCLC). Cell-in-cell structures (CICs), a novel functional surrogate of complicated cell behaviors, have shown promise in predicting the prognosis of cancer patients. However, the CIC profiling and its prognostic value remain unclear in NSCLC.

Nomogram for predicting the risk of postoperative myasthenic crisis in patients with thymectomy.

Objective: This study aimed to develop and validate internally a clinical predictive model, for predicting myasthenic crisis within 30 days after thymectomy in patients with myasthenia gravis.

Methods: Eligible patients were enrolled between January 2015 and May 2019. The primary outcome measure was postoperative myasthenic crisis (POMC).

Clinical Comparative Analyses of Thymectomy Between Subxiphoid and Subcostal Arch Thoracoscopic Resection and Median Sternotomy for the Treatment of Thymoma With Myasthenia Gravis in Chinese Patients.

Introduction: This study aims to retrospectively compare the efficacy and safety of subxiphoid and subcostal arch thoracoscopic resection (SR) and the median sternotomy (MS) for thymoma with myasthenia gravis (MG) via propensity-matched analysis.

Methods: We retrospectively analyzed 502 patients with thymoma and MG in Tangdu Hospital of the Fourth Military Medical University from December 2012 to December 2017. The patients were allocated to SR group (n = 424) and MS group (n = 78).

Correlation between and in clinical strains of at planktonic and biofilm states.

This study aimed to explore the influences of and on itraconazole (ITR) resistance of at different states. A total of 10 ITR-resistant strains and 10 ITR-sensitive strains were used for sequencing and sequencing. sequencing showed no missense mutation, and three synonymous mutations.

Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad.

Background: Dyskeratosis congenita (DC) is a rare inheritable disorder characterized by bone marrow failure and mucocutaneous triad (reticular skin pigmentation, nail dystrophy, and oral leukoplakia). Dyskeratosis congenita 1 () is responsible for 4.6% of the DC with an X-linked inheritance pattern.

Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family.

Background: Hereditary multiple exostosis (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple cartilage-covered tumors on the external surfaces of bones (osteochondromas). Most of HME cases result from heterozygous loss-of-function mutations in EXT1 or EXT2 gene.

Methods: Clinical examination was performed to diagnose the patients: Whole exome sequencing (WES) was used to identify pathogenic mutations in the proband, which is confirmed by Sanger sequencing and co-segregation analysis: qRT-PCR was performed to identify the mRNA expression level of EXT1 in patient peripheral blood samples: minigene splicing assay was performed to mimic the splicing process of EXT1 variants in vitro.

[Identification of a novel SOD1 variant in a Chinese patient with amyotrophic lateral sclerosis].

Objective: To explore the genetic basis for a Chinese patient with amyotrophic lateral sclerosis (ALS).

Methods: Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA. Genetic variant was identified by whole exome sequencing.

[Analysis of gene variant in a Chinese pedigree with preaxial polydactyly].

Objective: To analyze the pathogenic variant of preaxial polydactyly in a Chinese Han pedigree and identify the cause of polydactyly.

Methods: The peripheral blood DNA of the proband and her parents was extracted. The polydactyly-related genes were detected by trio whole exome sequencing, and the suspected pathogenic gene was screened out.

Thymectomy and Risk of Generalization in Patients with Ocular Myasthenia Gravis: A Multicenter Retrospective Cohort Study.

This study aims to investigate the association between thymectomy and the risk of generalization in patients with ocular myasthenia gravis (MG). Data on patients with ocular MG from seven neurological centers in China were retrospectively reviewed. Ocular MG naïve to immunotherapy was categorized according to whether thymectomy was performed (thymectomized group vs.

[Variant analysis of SOX5 gene in a Lamb-Shaffer syndrome family].

Objective: To explore the genetic basis for a case of Lamb-Shaffer syndrome.

Methods: Genomic DNA was extracted from peripheral blood samples and subjected to whole exome sequencing(WES). Suspected variant was verified by Sanger sequencing.

Subtype-Based Analysis of Cell-in-Cell Structures in Esophageal Squamous Cell Carcinoma.

Cell-in-cell (CIC) structures are defined as the special structures with one or more cells enclosed inside another one. Increasing data indicated that CIC structures were functional surrogates of complicated cell behaviors and prognosis predictor in heterogeneous cancers. However, the CIC structure profiling and its prognostic value have not been reported in human esophageal squamous cell Carcinoma (ESCC).

[Analysis of PKD2 gene variant and protein localization in a pedigree affected with polycystic kidney disease].

Objective: To detect the mutation site in a pedigree affected with autosomal dominant polycystic kidney disease (ADPKD) and verify its impact on the protein function.

Methods: Peripheral blood samples were collected from the proband and his pedigree members for the extraction of genomic DNA. Mutational analysis was performed on the proband through whole-exome sequencing.

A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family.

Background: Osteogenesis imperfecta (OI), a rare autosomal inheritable disorder characterized by bone fragility and skeletal deformity, is caused by pathogenic variants in genes impairing the synthesis and processing of extracellular matrix protein collagen type I. With the use of next-generation sequencing and panels approaches, an increasing number of OI patients can be confirmed and new pathogenic variants can be discovered. This study sought to identify pathogenic gene variants in a Chinese family with OI I.

Preliminary evaluation and discussion of the safety of left innominate vein resection.

Background: To evaluate the safety of resection of anterior mediastinal lesions involving the left innominate vein (LIV) and analyze the risk factors affecting LIV resection safety.

Methods: Patients who underwent anterior mediastinal lesion and LIV resection from January 2010 to December 2018 in the Department of Thoracic Surgery of Tangdu Hospital, Air Force Medical University, were followed up, and preoperative, intraoperative and postoperative factors were analyzed.

Results: Forty-eight patients who underwent anterior mediastinal lesion and LIV resection from January 2010 to December 2018, except for 2 who died of lung infection-induced respiratory failure, were followed up, with an average follow-up time of 32 months (range, 6-72 months).