Enhancing Clinical Applications by Evaluation of Sensitivity and Specificity in Whole Exome Sequencing.

The cost-effectiveness of whole exome sequencing (WES) remains controversial due to variant call variability, necessitating sensitivity and specificity evaluation. WES was performed by three companies (AA, BB, and CC) using reference standards composed of DNA from hydatidiform mole and individual blood at various ratios. Sensitivity was assessed by the detection rate of null-homozygote (N-H) alleles at expected variant allelic fractions, while false positive (FP) errors were counted for unexpected alleles.

3,6-Anhydro-L-galactose suppresses mouse lymphocyte proliferation by attenuating JAK-STAT growth factor signal transduction and G-S cell cycle progression.

Recombinant GH16B β-agarase-catalyzed liquefaction of 5-7 %(w/v) melted agarose at 50 °C completely hydrolyzed agarose into neoagarohexaose (NA6) and neoagarotetraose (NA4). Subsequent saccharification by recombinant GH50A β-agarase or recombinant GH50A β-agarase/recombinant GH117A α-neoagarobiose hydrolase at 35 °C converted NA6/NA4 into neoagarobiose (NA2) or 3,6-anhydro-L-galactose (L-AHG)/D-galactose, respectively. Purification of NA6/NA4 and NA2 was achieved by Sephadex G-15 column chromatography, while L-AHG was purified by Sephadex G-10, achieving ≥ 98 % purity.

Soft tissue paradigm based Treatment planning in skeletal class III.

Objectives: This study aimed to propose guidelines for the indications of non-extraction, extraction camouflage treatment, and orthognathic surgery by comparing the degree of soft tissue improvement effects. This comparison focused on changes in CKHA, a soft tissue indicator corresponding to the major hard tissue indicator, ANB.

Materials And Methods: Sixty-six patients, 25 males and 41 females, aged between 18 and 50 years and diagnosed with skeletal Class III malocclusion (ANB < 0°), were enrolled in the study.

Comparison between spectral-domain optical coherence tomography-based and partial coherence interferometry-based biometry.

We compared axial length (AL) measurements using spectral-domain optical coherence tomography (SD-OCT)-based and partial coherence interferometry (PCI)-based biometry in eyes with various chorioretinal diseases. Medical records were retrospectively analyzed in 123 eyes from 73 patients who underwent AL measurements using SD-OCT and PCI. AL values were highly consistent by both measurements (ICC = 0.

Subcutaneous Infliximab Concentration Thresholds for Mucosal and Transmural Healing in Patients With Crohn's Disease.

Background: Predose trough concentrations (C) of intravenous infliximab (IV-IFX) during maintenance therapy are associated with therapeutic outcomes in patients with Crohn's disease (CD). A subcutaneous formulation of infliximab (SC-IFX) has shown high C values due to its favourable pharmacokinetics.

Aims: To evaluate the association of C of SC-IFX with therapeutic outcomes and the threshold of SC-IFX C for achieving mucosal healing (MH) and transmural healing (TH) in patients with CD.

Development and Assessment of a Novel Ulcerative Colitis-Specific Quality of Life Questionnaire: A Prospective, Multi-Institutional Study.

Purpose: Interest in the quality of life (QoL) of patients with inflammatory bowel disease (IBD) has recently increased. Although measurement tools have been devised for IBD in general, there is no specific tool for measuring the QoL of patients with ulcerative colitis (UC). Therefore, we developed a QoL questionnaire specifically for patients with UC.

Effectiveness of switching to subcutaneous infliximab in inflammatory bowel disease patients with inadequate biochemical response during intravenous administration.

Infliximab (IFX) has transformed the management of inflammatory bowel diseases (IBD). While intravenous (IV) IFX has been effective, a subcutaneous (SC) formulation offers advantages in convenience and cost. However, there is lack of evidence regarding the transition from IV to SC-IFX, especially for patients with inadequate responses.

Comparative study on structural and functional brain differences in mild cognitive impairment patients with tinnitus.

Objective: Tinnitus may be associated with various brain changes. However, the degenerative changes in patients with tinnitus have not been extensively investigated. We aimed to evaluate degenerative, structural, and functional brain changes in patients with mild cognitive impairment (MCI) who also suffer from tinnitus.

Histologic improvement predicts endoscopic remission in patients with ulcerative colitis.

Limited research has been performed to determine if histologic improvement serves as a prognosticator for endoscopic remission, a key therapeutic target for ulcerative colitis (UC). The primary aim of the study was to evaluate if histological activity could predict endoscopic remission in UC patients with Mayo endoscopic subscores (MES) of 0 or 1. In addition, we compared the clinical outcomes between histologic improvement group and active group.

Cardiac-gated spectroscopic photoacoustic imaging for ablation-induced necrotic lesion visualization.

Radiofrequency (RF) ablation is a minimally invasive therapy for atrial fibrillation. Conventional RF procedures lack intraoperative monitoring of ablation-induced necrosis, complicating assessment of completeness. While spectroscopic photoacoustic (sPA) imaging shows promise in distinguishing ablated tissue, multi-spectral imaging is challenging in vivo due to low imaging quality caused by motion.

Associations Between Tinnitus and Systemic Disease in Adolescents: Implications of Vitamin D Deficiency and Anaemia.

Objectives: Tinnitus is one of the irritating symptoms that should be addressed in adolescents. Since tinnitus affects mental health, it is important to treat it. However, identifying the cause of tinnitus is very challenging and the treatment strategies of tinnitus are controversial.

Korean urobiome platform (KUROM) study for acute uncomplicated sporadic versus recurrent cystitis in women: Clinical significance.

Purpose: To investigate urine microbiome differences among healthy women, women with recurrent uncomplicated cystitis (rUC), and those with sporadic/single uncomplicated cystitis (sUC) to challenge traditional beliefs about origins of these infections.

Materials And Methods: Patients who underwent both conventional urine culture and next-generation sequencing (NGS) of urine were retrospectively reviewed. Symptom-free women with normal urinalysis results as a control group were also studied.

Fingerprint sign of the Henle fibre layer in epiretinal membrane: a cross-sectional and longitudinal study.

Purpose: To investigate the incidence and distribution of fingerprint-like microwaves in the Henle fibre layer (HFL) of the eyes with epiretinal membrane (ERM).

Methods: Patients with idiopathic ERM were included. The fingerprint sign was defined using en-face optical coherence tomography images of the HFL, and its extent was classified into three grades.

miRNA Dynamics for Pest Management: Implications in Insecticide Resistance.

Utilizing chemical agents in pest management in modern agricultural practices has been the predominant approach since the advent of synthetic insecticides. However, insecticide resistance is an emerging issue, as pest populations evolve to survive exposure to chemicals that were once effective in controlling them, underlining the need for advanced and innovative approaches to managing pests. In insects, microRNAs (miRNAs) serve as key regulators of a wide range of biological functions, characterized by their dynamic expression patterns and the ability to target genes.

A Revision of the Phylogeny of Helicotylenchus Steiner, 1945 (Tylenchida: Hoplolaimidae) as Inferred from Ribosomal and Mitochondrial DNA.

Identification of Helicotylenchus species is very challenging due to phenotypic plasticity and existence of cryptic species complexes. Recently, the use of rDNA barcodes has proven to be useful for identification of Helicotylenchus. Molecular markers are a quick diagnostic tool and are crucial for discriminating related species and resolving cryptic species complexes within this speciose genus.

Clinicopathologic and Endosonographic Characteristics of Colon Subepithelial Tumors Discovered Incidentally.

Background/aims: Colonoscopy is commonly used for colorectal cancer screening; therefore, the detection of colon subepithelial tumors (SETs) has also increased. Several research studies have been undertaken to diagnose and treat stomach and rectal SETs. The purpose of this study was to determine a diagnostic point for colon SETs by comparing histological findings with the endoscopic characteristics of colon SETs discovered by chance.

Rebamipide Prevents the Hemoglobin Drop Related to Mucosal-Damaging Agents at a Level Comparable to Proton Pump Inhibitors.

Background/aims: : The effect of proton pump inhibitors (PPIs) on the lower gastrointestinal (GI) tract is uncertain, with potential to worsen damage. This study aimed to find the best method for protecting the entire GI tract from mucosal damage.

Methods: : A retrospective cohort study at Samsung Medical Center (2002-2019) included 195,817 patients prescribed GI mucosa-damaging agents.

Risk factors and management of iatrogenic colorectal perforation in diagnostic colonoscopy: a single-center cohort study.

Background And Aims: Diagnostic colonoscopy plays a central role in colorectal cancer screening programs. We analyzed the risk factors for perforation during diagnostic colonoscopy and discussed the treatment outcomes.

Methods: We performed a retrospective analysis of risk factors and treatment outcomes of perforation during 74,426 diagnostic colonoscopies between 2013 and 2018 in a tertiary hospital.

Separable Tendon-Driven Robotic Manipulator with a Long, Flexible, Passive Proximal Section.

This work tackles practical issues which arise when using a tendon-driven robotic manipulator (TDRM) with a long, flexible, passive proximal section in medical applications. Tendon-driven devices are preferred in medicine for their improved outcomes via minimally invasive procedures, but TDRMs come with unique challenges such as sterilization and reuse, simultaneous control of tendons, hysteresis in the tendon-sheath mechanism, and unmodeled effects of the proximal section shape. A separable TDRM which overcomes difficulties in actuation and sterilization is introduced, in which the body containing the electronics is reusable and the remainder is disposable.

Experience of primary intestinal lymphangiectasia in adults: Twelve case series from a tertiary referral hospital.

Background: While primary intestinal lymphangiectasia (PIL) is considered a rare condition, there have been several reported cases in adults. Nevertheless, the absence of clear guidance from diagnosis to treatment and prognosis poses challenges for both physicians and patients.

Aim: To enhance understanding by investigating clinical presentation, diagnosis, treatment, complications, and prognoses in adult PIL cases.