Anti-gene oligonucleotide clamps invade dsDNA and downregulate expression.

Anti-gene oligonucleotides belong to a group of therapeutic compounds, which, in contrast to antisense oligonucleotides, bind to DNA. Clamp anti-gene oligonucleotides bind through a double-stranded invasion mechanism. With two arms connected by a linker, they hybridize to one of the DNA strands forming Watson-Crick and Hoogsteen hydrogen bonds.

Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.

Background: Congenital anomalies (CAs) encompass a wide spectrum of structural and functional abnormalities during fetal development, commonly presenting at birth. Identifying the cause of CA is essential for accurate diagnosis and treatment. Using a target-gene approach, genetic variants could be found in certain CA patients.

Basic Considerations for the Consistency Evaluation Based on ICH E17 Guideline.

In the International Council for Harmonisation (ICH) guidance on General Principles for Planning and Design of Multi-Regional Clinical Trials (E17), it is important to evaluate the consistency of treatment effect across regions in a multi-regional clinical trial (MRCT). In this paper, we elaborated on some basic considerations to evaluate consistency. We first list the design considerations, and then provide consistency evaluation and interpretation on pharmacokinetics, pharmacodynamics, efficacy, safety, and benefit-risk.

Outcome of utilizing real-time contrast medium to detect the fistulas in spinal epidural arachnoid cysts and treat with minimally invasive surgery.

Background: Spinal epidural arachnoid cysts (SEACs) are rare, non-neoplastic pathologies that can cause compressive myelopathy. Preoperative identification of the exact fistula location is crucial for minimally invasive management.

Methods: This single-center retrospective study included 27 patients with SEACs who underwent "double-needle puncture myelography" to precisely localize the fistula before minimally invasive surgery.

Current status of FAP-directed cancer theranostics: a bibliometric analysis.

Fibroblast activation protein (FAP) is a key molecule in the field of oncology, with significant impacts on tumor diagnosis and treatment. Importantly, it has paved the way for the development of radiotracers for quinoline-based FAP inhibitors (FAPIs), which are currently among the most promising radiotracers for PET imaging in cancer. We performed a bibliometric analysis of scientific publications related to FAP and FAPI-based radiotracers, which included the quantification and visualization of current research trends and prospects based on various bibliometric indicators.

Imaging Characteristics of Primary Mucinous Cystadenocarcinoma of the Breast: A Case Report and Literature Review.

Introduction: Mucinous Cystadenocarcinoma (MCA) of the breast remains a relatively rare condition, and to date, there is no systematic summary of its imaging manifestations. Therefore, this report presents a detailed account of the diagnosis and treatment of mucinous cystadenocarcinoma in a 40-year-old woman, with a particular focus on imaging findings. Additionally, we conducted a comprehensive literature review on this disease and summarized its key imaging features.

High-Throughput Screening and General Synthesis Strategy of Single-Atom Nanozymes for Oral Squamous Cell Carcinoma Therapy.

Single-atom nanozymes (SAzymes), with their superior enzyme-like catalytic activity, have emerged as promising candidates for oncology therapeutics. The well-defined structures of SAzymes make them well predictable by experiences and theoretical calculation. However, the effects of metal center species and coordination environments on enzyme-like activity are variable, and screening catalytic activity by artificial experiments is challenging.

A rare case of extrapulmonary hamartoma on the visceral pleura treated by uniportal VATS: case report and literature review.

Pulmonary hamartomas are common. However, extrapulmonary hamartomas on the Visceral Pleura are very rare. We treated a patient with a pulmonary nodule at the left lower lobe by uniportal video-assisted thoracoscopic wedge resection, which showed a yellow nodule located on the visceral pleura.

Clinicopathological Features and Prognoses of Patients With Splenic Metastases From Breast Cancer: A Single-Centre, Retrospective Study.

Purpose: Splenic metastases (SM) from breast cancer (SMBC) are exceedingly rare. To date, the relevant literature is primarily based on pan-tumour species, with only a few studies exploring SM specifically in relation to breast cancer. As such, the present retrospective study explored the clinicopathological characteristics and prognoses of patients with SMBC at the breast care centre of the authors' hospital.

Non-canonical roles of CFH in retinal pigment epithelial cells revealed by dysfunctional rare CFH variants.

Complement factor H (CFH) common genetic variants have been associated with age-related macular degeneration (AMD). While most previous in vitro RPE studies focused on the common p.His402Tyr CFH variant, we characterized rare CFH variants that are highly penetrant for AMD using induced pluripotent stem-cell-derived retinal pigment epithelium (iPSC-RPE).

Clinical features of FOSMN syndrome in Korea: A comparative analysis with bulbar-onset amyotrophic lateral sclerosis.

Facial onset sensory and motor neuronopathy (FOSMN) syndrome is a rare neurodegenerative disorder initially characterized by facial sensory deficits, which later progress to motor deficits in a rostral-caudal distribution. This study investigated the prevalence, clinical features, and prognosis of FOSMN syndrome and compared these aspects with those of bulbar-onset amyotrophic lateral sclerosis (ALS) within a single institutional cohort of motor neuron diseases. We identified four patients with FOSMN syndrome who had been misclassified as having bulbar-onset ALS, representing approximately 2 % of such ALS cases.

Visceral Pain in Preterm Infants with Necrotizing Enterocolitis: Underlying Mechanisms and Implications for Treatment.

Necrotizing enterocolitis (NEC) is a relatively rare but very severe gastrointestinal disease primarily affecting very preterm infants. NEC is characterized by excessive inflammation and ischemia in the intestines, and is associated with prolonged, severe visceral pain. Despite its recognition as a highly painful disease, current pain management for NEC is often inadequate, and research on optimal analgesic therapy for these patients is lacking.

Snakebite envenomation-associated acute kidney injury: a South-Asian perspective.

Snakebite is a neglected public health problem in tropical countries. Snakebite envenomation-associated acute kidney injury (SBE-AKI) is a major complication accounting for significant morbidity and mortality. The pathogenesis of SBE-AKI may be multifactorial, including prerenal AKI secondary to hemodynamic alterations, intrinsic renal injury, immune-related mechanisms, venom-induced consumptive coagulopathy and capillary leak syndrome.

High density of TCF1+ stem-like tumor-infiltrating lymphocytes is associated with favorable disease-specific survival in NSCLC.

Introduction: Tumor-infiltrating lymphocytes are both prognostic and predictive biomarkers for immunotherapy response. However, less is known about the survival benefits oftheir subpopulations.

Methods: Using machine learning models, we assessed the clinical association of the CD8+, PD1+, TCF1+ cel l subset by multiplex immunohistochemistry using tissue microarrays in 553 non-small cell lung cancer (NSCLC) patients and its correlation with other immune cell biomarkers.

Successful Treatment of a Patient Presenting with Simultaneous Diffuse Large B-Cell Lymphoma and Hodgkin Lymphoma: A Case Report.

BACKGROUND Simultaneously occuring diffuse large B-cell lymphoma (DLBCL) and Hodgkin lymphoma (HL) is extremely rare. Generally, patients with CD20-positive DLBCL receive rituximab, cyclophosphamide, vincristine, doxorubicin, prednisone (R-CHOP) regimen, while those with HL receive brentuximab vedotin, doxorubicin, vinblastine, dacarbazine (A-AVD) regimen as first-line therapy. Establishing a strategy for treating both lymphoma subtypes concurrently is thus very difficult.

Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits.

Genetic studies of the metabolome can uncover enzymatic and transport processes shaping human metabolism. Using rare variant aggregation testing based on whole-exome sequencing data to detect genes associated with levels of 1,294 plasma and 1,396 urine metabolites, we discovered 235 gene-metabolite associations, many previously unreported. Complementary approaches (genetic, computational (in silico gene knockouts in whole-body models of human metabolism) and one experimental proof of principle) provided orthogonal evidence that studies of rare, damaging variants in the heterozygous state permit inferences concordant with those from inborn errors of metabolism.

The impact of common and rare genetic variants on bradyarrhythmia development.

To broaden our understanding of bradyarrhythmias and conduction disease, we performed common variant genome-wide association analyses in up to 1.3 million individuals and rare variant burden testing in 460,000 individuals for sinus node dysfunction (SND), distal conduction disease (DCD) and pacemaker (PM) implantation. We identified 13, 31 and 21 common variant loci for SND, DCD and PM, respectively.

Ampullary composite gangliocytoma/neuroma and neuroendocrine tumor management.

Ampullary composite gangliocytoma/neuroma and neuroendocrine tumor (CoGNET), previously called ampullary gangliocytic paragangliomas (GP) are a rare entity, with only few reported cases in the literature. This is a multicentric retrospective cohort of patients treated with endoscopy or surgery for ampullary CoGNET. A literature review of ampullary CoGNET was also performed.

Glutathione-Driven Disassembly of Planar Organic Phototherapeutic Agents to Enhance Photodynamic-Photothermal Therapy Performance for Nasopharyngeal Carcinoma.

The self-assembly of hydrophobic organic phototherapeutic agents (OPTAs) with expansive planar structures into nanoparticles (NPs) represents a pivotal strategy to bolster their biocompatibility. However, the tight molecular packing within these NPs significantly influences the generation of reactive oxygen species (ROS) and the photothermal conversion efficiency (PCE), posing a substantial hurdle to elevating the efficacy of photodynamic therapy (PDT) and photothermal therapy (PTT) for such NPs. In this article, three OPTAs by donor engineering are synthesized.

Identification of progressive pulmonary fibrosis: consensus findings from a modified Delphi study.

Background: We sought consensus among practising respiratory physicians on the prediction, identification and monitoring of progression in patients with fibrosing interstitial lung disease (ILD) using a modified Delphi process.

Methods: Following a literature review, statements on the prediction, identification and monitoring of progression of ILD were developed by a panel of physicians with specialist expertise. Practising respiratory physicians were sent a survey asking them to indicate their level of agreement with these statements on a binary scale or 7-point Likert scale (- 3 to 3), or to select answers from a list.

A clinical analysis and literature review of eleven cases with primary pulmonary angiosarcoma.

Objective: The aim of this study is to explore the clinicopathological features, radiographic manifestations, treatment options, and prognosis of primary pulmonary angiosarcoma (PPAS).

Method: We summarized and analyzed the clinical data of 11 patients with primary pulmonary angiosarcoma treated at the First Affiliated Hospital of Guangzhou Medical University between January 2018 and January 2024. A retrospective analysis was conducted in conjunction with a review of the relevant literature.

Education moderates the association between motor involvement and executive status in ALS.

Background: This study aimed to determine whether educational attainment-a common proxy of cognitive reserve (CR)-influences the association between motor and cognitive/behavioural outcomes in a large cohort of ALS patients without dementia.

Methods: N = 726 ALS patients without FTD were assessed for motor (ALSFRS-R), cognitive (Edinburgh Cognitive and Behavioural ALS Screen, ECAS) and behavioural outcomes (ECAS-Carer Interview, ECAS-CI). CR was operationalized via educational attainment (in years).

Scoliosis development in 5q-spinal muscular atrophy under disease modifying therapies.

Purpose: 5q-spinal muscular atrophy (SMA) is a treatable neuromuscular disorder associated with scoliosis in up to 90% of patients. New SMA therapies could mark a paradigm shift in scoliosis management, but their effects on scoliosis development remain unclear. This study aims to observe scoliosis progression in the current treatment landscape to inform management strategies.

Health-Related Quality of Life in Patients with Friedreich Ataxia Using Mobility Assistive Technologies: Limited Fit of the EQ-5D-3L Mobility Dimension.

Introduction: Friedreich Ataxia (FA) is a multisystem neurodegenerative disease. Affected individuals rely on mobility assistive technologies (MAT) (e.g.