Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.

Cost Comparison of Intramedullary Screw Fixation Versus Open Reduction and Internal Fixation With Plate and Screw Technique for Metacarpal Fractures.

Background: Intramedullary screw (IMS) fixation for metacarpal fractures is a relatively new fixation technique in comparison to plate and screw constructs. Our hypothesis evaluated whether IMS fixation for metacarpal fractures results in lower overall health care-associated costs in comparison to open reduction and internal fixation (ORIF).

Methods: A retrospective review of patients undergoing IMS fixation for metacarpal fractures at a single center during 2018 to 2022 was conducted.

Multifunctional 2D FETs exploiting incipient ferroelectricity in freestanding SrTiO nanomembranes at sub-ambient temperatures.

Incipient ferroelectricity bridges traditional dielectrics and true ferroelectrics, enabling advanced electronic and memory devices. Firstly, we report incipient ferroelectricity in freestanding SrTiO nanomembranes integrated with monolayer MoS to create multifunctional devices, demonstrating stable ferroelectric order at low temperatures for cryogenic memory devices. Our observation includes ultra-fast polarization switching (~10 ns), low switching voltage (<6 V), over 10 years of nonvolatile retention, 100,000 endurance cycles, and 32 conductance states (5-bit memory) in SrTiO-gated MoS transistors at 15 K and up to 100 K.

Initial experience of a novel ureteral silicon-covered metallic mesh stent in malignant ureteric obstruction: a single-center retrospective study.

Background: This study aimed to investigate initial experiences and outcomes of a retrograde inserted new silicone-covered metallic ureteric stent (Urexel™) for malignant ureteric obstruction.

Methods: We retrospectively reviewed the medical records for 12 consecutive patients who underwent Urexel™ stent placement for malignant ureteric obstruction from March 2020 to March 2021. The Urexel™ stent is a segmental metallic ureteric stent composed of a nitinol mesh covered with a silicone membrane.

Hippocampal deep brain stimulation for drug-resistant epilepsy: Insights from bilateral temporal lobe and posterior epilepsy cases.

Purpose: This study evaluates the long-term efficacy of hippocampal deep brain stimulation (Hip-DBS) in patients with drug-resistant epilepsy (DRE), specifically focusing on bilateral temporal lobe epilepsy (BTLE) and posterior epilepsy (PE).

Methods: A retrospective analysis was conducted on 15 DRE patients (11 BTLE, 4 PE) who underwent bilateral Hip-DBS at Samsung Medical Center over an eight-year period. Medical records, seizure diaries, and neuropsychological assessments were reviewed.

From oxide epitaxy to freestanding membranes: Opportunities and challenges.

Motivated by the growing demand to integrate functional oxides with dissimilar materials, numerous studies have been undertaken to detach a functional oxide film from its original substrate, effectively forming a membrane, which can then be affixed to the desired host material. This review article is centered on the synthesis of functional oxide membranes, encompassing various approaches to their synthesis, exfoliation, and transfer techniques. First, we explore the characteristics of thin-film growth techniques with emphasis on molecular beam epitaxy.

Impact of Antibiotics and Chronic Medications on Efficacy of Immune Checkpoint Inhibitors in Patients With Hepatocellular Carcinoma.

Background And Aims: The interaction of immune checkpoint inhibitors (ICI) and concomitant medications such as antibiotics, metformin, statins, beta-blockers, proton pump inhibitors (PPIs), nonsteroidal anti-inflammatory drugs (NSAIDs), and low-dose aspirin has been studied in other malignancies. Our study aims to investigate the relationship between these medications and ICI efficacy in patients with advanced hepatocellular carcinoma (aHCC).

Methods: A retrospective review of patients who received at least one dose of ICIs between May 2015 and November 2019 was performed.

Sites of Metastasis and Survival in Metastatic Renal Cell Carcinoma: Results From the Korean Renal Cancer Study Group Database.

Background: In patients with metastatic renal cell carcinoma (mRCC), sites of metastatic involvement have been reported to be associated with a difference in survival. However, the frequency and survival according to different sites of metastases in Korean patients with mRCC remain unclear. Therefore, this study aimed to assess the frequency of metastatic site involvement and the association between sites of metastatic involvement and survival in Korean patients with mRCC.

The Association Between Victimization and Perpetration of Physical Intimate Partner Violence and Unmet Healthcare Needs Among Married Women in South Korea.

This study assessed physical intimate partner violence (IPV) experiences and examined their association with unmet healthcare needs among married women in South Korea. We analyzed data from a nationally representative longitudinal survey of 6,533 women at baseline. Participants were asked yes/no questions about their experiences of physical IPV victimization and perpetration over the past year.

A Pressure Sensor Based on the Interaction between a Hard Magnet Magnetorheological Elastomer and a Hall Effect Structure.

In this article, we report a novel pressure sensing method based on the Hall effect and a hard magnet magnetorheological elastomer (hmMRE). The elastic property of the MRE under pressure was used to generate spatial variation in the magnetic flux density around the MRE, and the variation was detected by the Hall effect device underneath. As the first development in this kind of pressure sensing mechanism, we conducted research for the following three purposes: (1) to verify the Hall effect on the output signal, (2) to understand the sensor output variations under different modes of operation, and (3) to utilize the mechanism as a pressure sensor.

CT-Based Adaptive Short Course Radiotherapy for Rectal Cancer: A Case Report.

Rectal cancer is a highly prevalent malignancy with an increasing number of treatment strategies and sequencing. Short-course radiotherapy (SCRT) combined with chemotherapy has shown to be a feasible treatment option for non-metastatic disease within the total neoadjuvant therapy paradigm. In contrast to conventionally fractionated chemoradiation, SCRT carries less logistical burden and reduces time off systemic therapy, which is particularly beneficial for patients with metastatic disease.

Pangolin scales as adaptations for innate immunity against pathogens.

Background: Pangolins are the only mammals that have overlapping scales covering most of their bodies, and they play a crucial role in the ecosystem, biological research, and human health and disease. Previous studies indicated pangolin scale might provide an important mechanical defense to themselves. The origin and exact functions of this unique trait remain a mystery.

Editorial Commentary: Olecranon Bone Autografting Combined With an Arthroscopic Approach for the Treatment Scaphoid Nonunion-An Important Technique for Wrist Surgeons.

Effective treatment of scaphoid pseudoarthrosis is critical to reduce the risk of progression to the potentially debilitating scaphoid nonunion advanced collapse, including complications of persistent wrist joint instability, degenerative arthritis, decreased range of motion, chronic pain, and functional impairment. Both anatomic and fracture-related pathophysiology predispose patients to scaphoid nonunion, including limited retrograde blood flow, fracture location, and delay of appropriate treatment. Recent studies have demonstrated successful outcomes in treatment of scaphoid nonunions, with nonvascularized bone autograft, commonly from distal radius or iliac crest, as well as pedicled vascularized or free vascularized autograft with rates of union varying from 84% to 100%.

Improving classification performance of motor imagery BCI through EEG data augmentation with conditional generative adversarial networks.

In brain-computer interface (BCI), building accurate electroencephalogram (EEG) classifiers for specific mental tasks is critical for BCI performance. The classifiers are developed by machine learning (ML) and deep learning (DL) techniques, requiring a large dataset for training to build reliable and accurate models. However, collecting large enough EEG datasets is difficult due to intra-/inter-subject variabilities and experimental costs.

Feasibility, reproducibility, and accuracy of echocardiographic right ventricular systolic function assessments in childhood cancer survivors at risk for heart failure.

Purpose: We sought to assess the feasibility, reproducibility, and accuracy of conventional and newer echocardiographic measures of right ventricular (RV) systolic function in adolescent and young adult childhood cancer survivors treated with anthracyclines.

Methods: Echocardiography and cardiac magnetic resonance imaging (CMR) were acquired ≤60 days apart in prospectively recruited survivors and RV functional measures were quantitated by blinded observers. Repeat quantitation was performed in a subset to evaluate reproducibility.

Efficacy and safety of a new torque-controlled angiographic catheter in cerebral angiography: A multicenter, randomized, open-label trial.

Objective: We aimed to examine the effectiveness and safety of a novel torque-controlled catheter for cerebral angiography.

Methods: A total of 417 patients who underwent routine transfemoral cerebral angiography were enrolled in a randomized controlled study to compare the new torque-controlled and control group catheters. Device success was assessed on parameters such as the assessment of the common carotid artery, device rotation force, and success rate with the crossover group after the failed procedure.

Simple biliary atresia score-a validated diagnostic aid for infantile cholestasis.

Purpose: The workup of jaundiced infants may be variable and protracted, thereby delaying the diagnosis and timely intervention for biliary atresia (BA). This potentially leads to inferior outcomes. We developed a practical score to stratify infantile cholestasis according to the risk of having BA.