Rare digestive disease: Mitochondrial neurogastrointestinal encephalomyopathy, review of the literature.

The median age of patients at diagnosis of mitochondrial neurogastrointestinal encephalomyopathy was 25 years. The most common neurological symptoms were leukoencephalopathy (83.1%), polyneuropathy (68.

A new treatment strategy for mid-low rectal cancer patients exhibiting a clinical complete or near-complete response to neoadjuvant chemoradiotherapy: Transanal endoscopic microsurgery --A multicenter prospective case-control clinical trial by MONT-R.

Background: Total mesorectal excision is the standard surgery for locally advanced rectal cancer (LARC) after neoadjuvant chemoradiotherapy (nCRT), but it may lead to high complication rates and poor quality of life. This study evaluates whether transanal endoscopic microsurgery (TEM), as a partial resection procedure, can enhance quality of life for clinical complete response (cCR) or near-cCR patients without compromising survival.

Methods: Between May 2017 to September 2021, 80 patients with T3-4N0M0 or TanyN+M0 mid-low rectal cancer achieving cCR or near-cCR post-nCRT were prospectively included at 6 Chinese centers.

Identification of Mycobacterium marinum in subcutaneous abscesses of an infected patient's foot.

Introduction: Mycobacterium marinum is a well-known pathogenic non-tuberculous mycobacterium for skin and soft tissue infections. Infection, often presenting as superficial lesions, is seen after exposure of skin abrasions to contaminated water or infected fish and is known as "swimming pool" or "fish tank" granuloma. This study reported a case of M.

[The clinical application of endoscope holder in revision tympanoplasty surgery].

The current study summarized the surgical key points and technique advantages of endoscope holder in revision tympanoplasty. Fifteen patients who underwent revision tympanoplasty using the endoscope holder between January 2023 and April 2024 at the Department of Otorhinolaryngology, Peking Union Medical College Hospital were retrospectively collected. There were 6 males and 9 females, with an average age of (37.

[Expert consensus on endoscopic surgery for the pediatric middle ear cholesteatoma based on the classification of cholesteatoma location].

Pediatric middle ear cholesteatoma is an aggressive keratotic lesion caused by abnormal proliferation of keratinised squamous epithelium in the temporal bone, with the characteristics of high postoperative recurrence rate, poor hearing effect and poor quality of life. Endoscopic surgery is able to deal with the majority of pediatric middle ear cholesteatoma cases with the features of minimal trauma and wide surgical field. However, endoscopic surgical treatment still has problems in standardization.

Patient-reported outcomes of rezvilutamide versus bicalutamide in combination with androgen deprivation therapy in high-volume metastatic hormone-sensitive prostate cancer patients (CHART): a randomized, phase 3 study.

The randomized phase 3 CHART trial (NCT03520478) revealed that rezvilutamide (REZ) plus androgen deprivation therapy (ADT) in high-volume, metastatic, hormone-sensitive prostate cancer (mHSPC) significantly enhanced radiographic progression-free and overall survival than bicalutamide (BIC)-ADT. Accordingly, we examined patient-reported outcomes (PROs) results, which were exploratory endpoints in the CHART trial. The patients were randomly allocated to receive REZ-ADT or BIC-ADT in a 1:1 ratio.

Prognostic value of echocardiographic cardiac chamber longitudinal strains in advanced light chain cardiac amyloidosis.

Objective: Patients with advanced light chain cardiac amyloidosis (AL-CA) have a poor prognosis. We aimed to (1) assess the prognostic significance of all cardiac chamber longitudinal strains and (2) to further determine whether the combination of longitudinal strains with the Mayo staging system could provide additional prognostic value.

Methods: Patients classified as Mayo 2012 stage III and IV were included in our study.

Factors associated with early clinical remission in patients with idiopathic retroperitoneal fibrosis.

Objectives: Idiopathic retroperitoneal fibrosis (IRF) is a rare autoimmune-mediated condition characterized by fibro-inflammatory tissue development around the abdominal aorta and iliac arteries. Ureteral entrapment and hydronephrosis are the most common manifestations and acute renal failure or chronic renal insufficiency may occur as the consequence. Glucocorticoids and immunosuppressants may be effective but the therapeutic response and outcome are heterogeneous and hard to predict.

Impact of Early Life Famine Exposure on Body Composition and Metabolic Profiles in Adulthood.

The relationship between the famine and metabolic syndrome has been reported, but there is a lack of more detailed changes in metabolic profiles. It is unclear how famine affects body composition. This study included 21,142 participants from the China National Health Survey.

The clinicopathological and molecular features of primary high-grade neuroendocrine tumour in the breast.

Aims: Nottingham grade for breast cancers, rather than gastro-entero-pancreatic (GEP) grade for neuroendocrine tumours (NETs), is currently applied to primary breast NETs, which need further clarification. High-grade NETs in breast also remain poorly recognised.

Methods And Results: Among 595 breast carcinomas with diffuse synaptophysin (Syn) or chromogranin A (CgA) immunostaining (≥ 90%), 197 eligible cases were selected, including 69 NETs, 123 invasive breast carcinomas of no special type (IBC-NSTs) and five neuroendocrine carcinomas (NECs).

Hyper-fractionated radiotherapy as a bridging strategy to enhance CAR-T efficacy by regulating T-cell co-stimulatory molecules in relapsed/refractory diffuse large B-cell lymphoma.

Background: Bridging therapy can prevent patients from disease progression while waiting for CAR-T cell preparation. Hyper-fractionated radiotherapy can achieve an effective target dose within a short period, minimize radiation damage, and may modify immune environment compared to conventional radiotherapy.

Aims: This study aims to investigate the efficacy and safety of bridging hyper-fractionated radiotherapy in combination with CAR-T therapy for relapsed/refractory diffuse large B-cell lymphoma.

Perioperative tislelizumab with four cycles of neoadjuvant chemotherapy for resectable locally advanced esophageal squamous cell carcinoma: a phase 2 study.

Background: The application of neoadjuvant immunotherapy in the treatment of esophageal cancer needs further exploration. This study aimed to investigate the safety and effectiveness of tislelizumab, an anti-PD-1 antibody, combined with chemotherapy as neoadjuvant treatment for locally advanced esophageal squamous cell carcinoma (LA-ESCC).

Methods: In this phase II study, patients with clinical stages of II-IVA (T3-T4 and/or node positive) potentially resectable LA-ESCC were enrolled.

Genetic risk stratification and risk factors of early menopause in women: a multi-center study utilizing polygenic risk scores.

Objective: This study aims to evaluate the utility of polygenic risk scores (PRS) in women with early menopause (EM) and to investigate the clinical characteristics and risk factors associated with EM based on genetic risk.

Study Design: Genotyping data and clinical data from women with EM and women with normal age of menopause retrieved from UK Biobank were used for early menopause risk prediction model establishment. Subsequently, 99 women diagnosed with EM and 1027 control women underwent PGT-M were recruited for model validation from across eight hospitals in China.

Differences Between Patients with Probable UIP and Definite UIP on HRCT in Idiopathic Pulmonary Fibrosis: A Real-World Cohort Study.

Both a probable usual interstitial pneumonia (UIP) pattern (p-UIP) and a definite UIP pattern (d-UIP) on high-resolution computed tomography (HRCT) are sufficient to establish a diagnosis of idiopathic pulmonary fibrosis (IPF) without the need for a surgical lung biopsy, according to the 2022 IPF guidelines. However, it remains unknown whether patients with p-UIP and d-UIP have similar disease behaviors and clinical courses. We retrospectively collected clinical data of patients with IPF and divided the patients into two groups according to their HRCT patterns: a p-UIP group and a d-UIP group.

Automatic Segmentation of the Left Ventricle in Apical Four-Chamber View on Transesophageal Echocardiography Based on UNeXt Deep Neural Network.

The automatic left ventricle segmentation in transesophageal echocardiography (TEE) is of significant importance. In this paper, we constructed a large-scale TEE apical four-chamber view (A4CV) image dataset and proposed an automatic left ventricular segmentation method for the TEE A4CV based on the UNeXt deep neural network. UNeXt, a variant of U-Net integrating a multilayer perceptron, was employed for left ventricle segmentation in the TEE A4CV because it could yield promising segmentation performance while reducing both the number of network parameters and computational complexity.

Comparative evaluation of a novel [F] F-Labeled PET tracer XTR004 against [N] ammonia in myocardial perfusion imaging for coronary artery disease.

Aims: This study aimed to evaluate image quality, myocardial perfusion, and diagnostic performance of a novel [F]F-labeled PET tracer, XTR004 PET, myocardial perfusion imaging (MPI) compared with [N]Ammonia (NH) PET MPI.

Methods And Results: Forty-seven patients with suspected or known coronary artery disease (CAD) were prospectively enrolled to undergo one-day rest/ATP-stress XTR004 and NH electrocardiograph-gated PET imaging within 2 weeks. Among them, twenty-six patients underwent invasive coronary angiography (ICA), and nineteen were identified with flow-limited CAD (stenosis ≥ 70%).

Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia.

Objective: Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) for genetic diagnosis. The clinical features of the patients were also evaluated.

[Cluster analysis and analysis of risk factors for hereditary transthyretin amyloidosis cardiomyopathy].

To explore the clinical characteristics and prognostic value in hereditary transthyretin amyloidosis cardiomyopathy (hATTR-CM) patients based on cluster analysis, and to explore the risk factors for cardiovascular composite events. This retrospective cohort study included hATTR-CM patients who were admitted to Peking Union Medical College Hospital from January 2000 to January 2024. These patients were divided into two clusters using cluster analysis, based on genetic information, demographic information and clinical information.

First-line treatments for KRAS-mutant non-small cell lung cancer: current state and future perspectives.

mutations are common in non-small cell lung cancer (NSCLC) and are associated with patient prognosis; however, targeting has faced various difficulties. Currently, immunotherapy, chemotherapy, and chemoimmunotherapy play pivotal roles in the first-line treatment of -mutated NSCLC. Here, we summarize the current evidence on first-line therapies and compare the treatment outcomes and biomarkers for different regimens.

Advances in laboratory diagnosis of Sjogren's disease in children.

Sjogren's disease (SjD) in children is a rare chronic autoimmune disease not fully recognized due to clinical manifestations different from adults. As such, new objective indicators are needed to supplement existing markers and assist in diagnosis. This review summarizes pathogenesis of SjD in children, current diagnostic criteria and research progress in laboratory diagnosis including serologic testing, saliva and tear analysis, histopathological examination as well as emerging markers of interest.

Tumor-infiltrating regulatory T cell: A promising therapeutic target in tumor microenvironment.

Regulatory T cell (Tregs) predominantly maintain the immune balance and prevent autoimmunity via their immunosuppressive functions. However, tumor-infiltrating Tregs (TI-Tregs) may mediate tumor immune tolerance in complex tumor microenvironments, resulting in poor prognosis. Distinguishing specific TI-Treg subpopulations from peripheral Tregs and intratumoral conventional T cells (Tconvs) has recently emerged as an important topic in antitumor therapy.

Localization strategies for deep lung nodule using electromagnetic navigation bronchoscopy and indocyanine green fluorescence: a technical note.

Accurate localization of pulmonary nodules is crucial for successful video-assisted thoracoscopic surgery (VATS) resection. Electromagnetic navigation bronchoscopy (ENB) combined with indocyanine green (ICG) fluorescence has emerged as a promising technique for precise pulmonary nodule marking. This study aims to evaluate the efficacy and safety of four ENB-guided ICG marking techniques: direct lesion marking, superficial marking, resection boundary marking, and margin sphere marking.

Development and validation of machine learning models for predicting lung metastasis risk in differentiated thyroid cancer based on two databases.

Background: Differentiated thyroid cancer (DTC) progresses slowly, but patients with lung metastasis (LM) have a poor prognosis. The aim of this study was to develop and evaluate the predictive ability of machine learning (ML) models in estimating the risk of LM in patients with DTC and to identify the independent risk factors specific to different age and gender subgroups.

Methods: The demographic and clinicopathological data of patients with DTC were obtained from two databases: firstly, the National Institutes of Health Surveillance, Epidemiology, and End Results (SEER) database [2010-2015], which provides extensive epidemiological and clinical information on cancer patients; secondly, the Zhangzhou Municipal Hospital Affiliated to Fujian Medical University [2014-2017], which focuses more on patients' specific clinicopathological characteristics and treatment outcomes.