Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.

There are hundreds of rare syndromic diseases involving hearing loss, many of which are not targeted for clinical genetic testing. We systematically explored the genetic causes of undiagnosed syndromic hearing loss using a combination of whole exome sequencing (WES) and a phenotype similarity search system called PubCaseFinder. Fifty-five families with syndromic hearing loss of unknown cause were analyzed using WES after prescreening of several deafness genes depending on patient clinical features.

A Prospective Phase II Trial of First-Line Osimertinib for Patients With EGFR Mutation-Positive NSCLC and Poor Performance Status (OPEN/TORG2040).

Introduction: Osimertinib is the first-line treatment for patients with NSCLC who have EGFR mutations and favorable performance status (PS). Despite the increasing clinical data on osimertinib, evidence for its use in patients with impaired PS remains limited. Therefore, a multicenter phase II trial (OPEN/TORG2040) was conducted to evaluate the efficacy and safety of first-line osimertinib treatment in patients with EGFR mutation-positive NSCLC and a poor PS.

Safety and Efficacy of Dose-Dense Methotrexate, Vinblastine, Doxorubicin, and Cisplatin with Pegfilgrastim in Japanese Patients with Advanced or Metastatic Urothelial Carcinoma.

Introduction: Dose-dense methotrexate, vinblastine, doxorubicin, and cisplatin (ddMVAC) therapy is indicated as first-line or neoadjuvant chemotherapy (NAC) for patients with advanced or metastatic urothelial carcinoma (UC). However, no studies reported ddMVAC therapy with pegfilgrastim (3.6 mg) in Japanese patients.

Prognostic Impact of Preoperative Left Ventricular Systolic Dysfunction in Older Adult Patients With Gastric Cancer.

Background/aim: The effect of left ventricular systolic dysfunction (LVSD), a risk factor for postoperative mortality, in older adult patients with gastric cancer has not been fully elucidated. This study aimed to evaluate the impact of low preoperative left ventricular ejection fraction (EF) on short- and long-term outcomes in older adult patients with gastric cancer.

Patients And Methods: This retrospective study enrolled 237 older adult patients with gastric cancer (≥75 years old) who underwent preoperative echocardiography and curative gastrectomy.

High levels of REV7 expression are associated with poor prognosis and chemoresistance in gastric adenocarcinoma.

REV7 is a multifunctional protein essential for promoting cellular tolerance to DNA damage. REV7 expression is associated with disease progression and prognosis in several human malignant tumors. This study aimed to evaluate the clinical and biological significance of REV7 in gastric adenocarcinoma (GAD).

Multi-omics analysis-based clinical and functional significance of a novel prognostic and immunotherapeutic gene signature derived from amino acid metabolism pathways in lung adenocarcinoma.

Background: Studies have shown that tumor cell amino acid metabolism is closely associated with lung adenocarcinoma (LUAD) development and progression. However, the comprehensive multi-omics features and clinical impact of the expression of genes associated with amino acid metabolism in the LUAD tumor microenvironment (TME) are yet to be fully understood.

Methods: LUAD patients from The Cancer Genome Atlas (TCGA) database were enrolled in the training cohort.

PLK1 overexpression suppresses homologous recombination and confers cellular sensitivity to PARP inhibition.

The overexpression of Polo-like kinase 1 (PLK1) is associated with poor clinical outcomes in various malignancies, making it an attractive target for anticancer therapies. Although recent studies suggest PLK1's involvement in homologous recombination (HR), the impact of its overexpression on HR remains unclear. In this study, we investigated the effect of PLK1 overexpression on HR using bioinformatics and experimental approaches.

S100A4 contributes to colorectal carcinoma aggressive behavior and to chemoradiotherapy resistance in locally advanced rectal carcinoma.

To investigate the functional role of S100A4 in advanced colorectal carcinoma (Ad-CRC) and locally advanced rectal carcinoma (LAd-RC) receiving neoadjuvant chemoradiotherapy (NCRT). We analyzed histopathological and immunohistochemical sections from 150 patients with Ad-CRC and 177 LAd-RC patients treated with NCRT. S100A4 knockout (KO) HCT116 cells were also used.

Prognostic role of high-sensitivity cardiac troponin T in patients with cardiac sarcoidosis: insights from ILLUMINATE-CS.

Aims: The prognostic role of high-sensitivity cardiac troponin T (hs-cTnT) as a biomarker in patients with cardiac sarcoidosis (CS) has yet to be fully determined, especially when compared with B-type natriuretic peptide (BNP).

Methods And Results: In this post-hoc analysis of the ILLUMINATE-CS (ILLUstration of the Management and prognosIs of JapaNese pATiEnts with Cardiac Sarcoidosis), which is a multicentre retrospective observational study, we analysed 103 patients (62.2 ± 10.

Noise Reduction in Brain CT: A Comparative Study of Deep Learning and Hybrid Iterative Reconstruction Using Multiple Parameters.

Objectives: We evaluated the noise reduction effects of deep learning reconstruction (DLR) and hybrid iterative reconstruction (HIR) in brain computed tomography (CT).

Methods: CT images of a 16 cm dosimetry phantom, a head phantom, and the brains of 11 patients were reconstructed using filtered backprojection (FBP) and various levels of DLR and HIR. The slice thickness was 5, 2.

High-sensitivity C-reactive protein, plaque vulnerability and adverse events in patients with stable coronary disease: An optical coherence tomography study.

Background: Higher levels of high-sensitivity C-reactive protein (hsCRP) are associated with increased risk of cardiovascular events in patients with coronary artery disease (CAD).

Aims: To elucidate the characteristics of coronary plaques in patients with CAD with high hsCRP levels.

Methods: A total of 793 consecutive patients with stable CAD who underwent optical coherence tomography (OCT) of the culprit vessel during percutaneous coronary intervention were included.

Feasibility of non-anesthesiologist-administered sedation with dexmedetomidine and midazolam during endoscopic submucosal dissection of upper gastrointestinal tumors.

Objectives: The efficacy and safety of a sedation regimen combining dexmedetomidine and midazolam during endoscopic submucosal dissection for upper gastrointestinal tumors remains unclear. In this study, we aimed to evaluate the efficacy and safety of this sedation regimen, where non-anesthesiologists performed sedation.

Methods: Sixty-eight patients who underwent endoscopic submucosal dissection for upper gastrointestinal tumors, sedated by non-anesthesiologists, were retrospectively evaluated.

[Clinical Outcomes of Transurethral Water Vapor Energy Therapy with Rezumᵀᴹ System].

We carefully reviewed and evaluated the efficacy of transurethral water vapor energy therapy (WAVE) with Rezumᵀᴹ system for treatment of benign prostatic hyperplasia. Between April and September 2023, 41 patients received WAVE under local anesthesia as day surgery at the outpatient department in our institution. The mean age as of operation was 78.

Associations of cognitive decline with outcomes of cardiovascular rehabilitation in patients with cardiovascular disease.

Background: Patients with cardiovascular disease (CVD) are often contending with various comorbidities including cognitive decline. Cognitive decline is a risk marker for adverse outcomes in these patients. On the other hand, cardiovascular rehabilitation (CVR) improves clinical outcomes.

Elevated expression of REV7 correlates with poor prognosis in lung adenocarcinoma and its inactivation in carcinoma cells enhances chemosensitivity.

REV7 is a multifunctional protein involved in the DNA damage response, cell cycle regulation, gene expression, or primordial germ cell maintenance. REV7 expression in tumor cells is associated with clinical aggressive features and chemoresistance in several human malignancies, however, the clinicopathological significance of REV7 in lung adenocarcinoma (LUAD) has not been studied yet. In this study, we investigated the significance of REV7 expression in LUAD using clinical materials and cell lines.

Neonatal Necrotizing Fasciitis of the Foot Caused by Bacillus cereus: A Case Report.

Few neonatal cases of soft tissue and osteoarticular infections with have been reported. We report a rare clinical presentation of necrotizing fasciitis of the foot caused by in a 17-day-old male neonate with hypoplastic left-sided heart syndrome. Fulminant progressive black skin necrosis was triggered by fresh frozen plasma leakage from the peripheral venous access.

The Potential of Hair-Follicle-Associated Pluripotent (HAP) Stem Cells for Regenerative Medicine.

Nestin-expressing hair-follicle-associated pluripotent (HAP) stem cells from mouse and human have been shown to differentiate into neurons, glia, keratinocytes, smooth muscle cells, cardiac muscle cells, and melanocytes in vitro. HAP stem cells have promoted the recovery of peripheral nerve and spinal cord injuries in mouse models by differentiating into glial fibrillary acidic protein (GFAP)-positive Schwann cells. HAP stem cells enclosed on polyvinylidene fluoride membranes (PFM) were transplanted into the severed thoracic spinal cord of nude mice.

Early initiation of intravenous cyclophosphamide and one-year outcome in super-refractory cryptogenic-new onset refractory status epilepticus.

To explore the potential efficacy of early initiation of intravenous cyclophosphamide (IVCPA), we reviewed consecutive four cases of super-refractory cryptogenic-new onset refractory status epilepticus (C-NORSE) between 2015 and 2023. We compared functional outcomes at 3 months and 1 year after the onset between patients who received IVCPA within 20 days (early-treated) and those who received it later (late-treated). All patients (median age: 43 years) had a prodromal fever.

M2BPgs-HCC: An Automated Multilectin Bead Array Indicating Aberrant Glycosylation Signatures Toward Hepatitis C Virus-Associated Hepatocellular Carcinoma Prognosis.

Regular monitoring of patients with a history of hepatitis C virus (HCV) infection is critical for the detection and management of hepatocellular carcinoma (HCC). Mac-2 binding protein glycosylation isomer (M2BPGi) has been used to monitor fibrosis progression and predict HCC. However, HCC prediction based on M2BPGi has not been optimized.

Twin Anemia-Polycythemia Sequence With Spontaneous Resolution in Dichorionic Diamniotic Twin Pregnancy: A Case Report and a Review of the Literature.

Complications of twin pregnancy such as twin anemia-polycythemia sequence (TAPS), which involve placental anastomotic vessels, occur mostly in monochorionic diamniotic twins and they have rarely been reported in dichorionic diamniotic (DD) twins. Here, we report a case of DD twins diagnosed with TAPS with fetal hydrops caused by fetal anemia at 28 weeks, which resolved spontaneously during pregnancy. A 37-year-old pregnant woman was referred to our hospital because of a twin pregnancy at 13 weeks.

Utility of Orthosis in the Conservative Treatment of Proximal Phalanx Fractures: A Preliminary Study in Healthy Participants.

Background: The standard treatment for the conservative management of a proximal phalanx fracture of the little finger involves immobilizing the fracture site with a cast. However, cast immobilization presents challenges in maintaining hygiene during treatment and restricts the fine motor movements of the fingers. In this study, we developed a removable orthosis that immobilizes only the ring and little fingers.