A case of Li-Fraumeni syndrome caused by a 3.6 kb deletion in the TP53 gene suggested by additional data from the NCC Oncopanel.

A Japanese woman with Li-Fraumeni syndrome in her 40s underwent comprehensive genetic profiling accompanied by germline data using the Oncoguide NCC Oncopanel, but no germline pathogenic variants in the tumor suppressor gene TP53 were detected. However, careful examination of additional data in the report suggested the presence of a large TP53 deletion. Custom targeting next-generation sequencing and nanopore sequencing revealed a 3.

Encorafenib, cetuximab and chemotherapy in BRAF-mutant colorectal cancer: a randomized phase 3 trial.

Encorafenib + cetuximab (EC) is approved for previously treated BRAF V600E-mutant metastatic colorectal cancer (mCRC) based on the BEACON phase 3 study. Historically, first-line treatment of BRAF V600E-mutant mCRC with chemotherapy regimens has had limited efficacy. The phase 3 BREAKWATER study investigated EC+mFOLFOX6 versus standard of care (SOC) in patients with previously untreated BRAF V600E mCRC.

Abnormal neural circuits and altered brain network topological properties in patients with persistent postural-perceptual dizziness.

Persistent Postural-Perceptual Dizziness (PPPD) is a common cause of chronic vestibular syndrome. Although previous studies have identified central abnormalities in PPPD, the specific neural circuits and the alterations in brain network topological properties, and their association with dizziness and postural instability in PPPD remain unclear. This study includes 30 PPPD patients and 30 healthy controls.

Altered Pattern of Serum N-Glycome in Subarachnoid Hemorrhage and Cerebral Vasospasm.

: Subarachnoid hemorrhage is a serious condition caused by ruptured intracranial aneurysms, resulting in severe disability mainly in young adults. Cerebral vasospasm is one of the most common complication of subarachnoid hemorrhage; thus, active prevention is key to improve the prognosis. The glycosylation of proteins is a critical quality attribute which is reportedly altered in patients diagnosed with acute ischemic stroke.

Clinical characteristics and outcomes of patients with chondroblastoma undergoing surgery with various adjuvant procedures: a retrospective study of 59 cases.

Background: Chondroblastoma is classified as a benign bone tumor. However, postoperative local recurrence remains a concern. We analyzed the factors contributing to chondroblastoma local recurrence and the clinical challenges associated with treating these patients.

Thyroid Dysfunction Following Thermal Ablation of Large Solid and Solid-Predominant Thyroid Nodules.

Objectives: Thermal ablation (TA) is an alternative to lobectomy for thyroid nodules (TNs). While it is believed that thyroid function remains stable after TA for cystic TNs, the impact of TA on solid TNs, especially the large ones, is less explored. This study investigates changes in thyroid hormones after TA in patients with solid-predominant TNs and identifies potential risk factors for thyroid dysfunction after TA.

Pertuzumab Retreatment for Human Epidermal Growth Factor Receptor 2-Positive Locally Advanced/Metastatic Breast Cancer (PRECIOUS Study): Final Overall Survival Analysis.

In the primary analysis of the open-label phase III PRECIOUS study, pertuzumab retreatment combined with trastuzumab plus chemotherapy of physician's choice (PTC) significantly improved investigator-assessed progression-free survival (PFS) compared with trastuzumab plus physician's choice chemotherapy (TC) in patients with human epidermal growth factor receptor 2 (HER2)-positive locally advanced/metastatic breast cancer (LA/mBC). Here, we report final overall survival (OS) at the median follow-up of 25.8 months.

Prevalence of FGFR2b Protein Overexpression in Advanced Gastric Cancers During Prescreening for the Phase III FORTITUDE-101 Trial.

Purpose: Fibroblast growth factor receptor 2 isoform IIIb (FGFR2b) protein overexpression is an emerging biomarker in gastric cancer and gastroesophageal junction cancer (GC). We assessed FGFR2b protein overexpression prevalence in nearly 3,800 tumor samples as part of the prescreening process for a global phase III study in patients with newly diagnosed advanced or metastatic GC.

Methods: As of June 28, 2024, 3,782 tumor samples from prescreened patients from 37 countries for the phase III FORTITUDE-101 trial (ClinicalTrials.

Epidemiological characteristics and risk factors for heart failure in Japanese patients with type 2 diabetes: A retrospective analysis of the J-DREAMS database.

Aim: To determine the epidemiological characteristics and risk factors for heart failure (HF) among Japanese patients with type 2 diabetes.

Methods: A retrospective cohort analysis, using J-DREAMS database, was conducted from December 2015 to January 2020 with type 2 diabetes. The primary objectives were to describe patient characteristics stratified by HF history at baseline and new HF events during follow-up.

Pharmacokinetic and Exposure-Response Modeling Support Body Surface Area-Based Dosing of Farletuzumab Ecteribulin in Japanese Patients with Solid Tumors.

The first-in-human, Phase 1 Study 101 showed antitumor activity and a tolerable safety profile of farletuzumab ecteribulin in Japanese patients with platinum-resistant ovarian and non-small cell lung cancer. A pharmacometric assessment evaluated farletuzumab ecteribulin pharmacokinetics and exposure-response (E-R) relationships for efficacy and safety to support dose optimization. Patients received 0.

International Validation of a Novel PEACE Scale to Improve the Quality of Upper Gastrointestinal Mucosal Inspection During Endoscopy.

Introduction: The performance of a high quality esophagogastroduodenoscopy (EGD) is dependent on the mucosal cleanliness. Recently, the Polprep: Effective Assessment of Cleanliness in EGD (PEACE) scale was created to assess the degree of mucosal cleanliness during EGD. The aim of this study was to validate this scoring system in a cohort of international endoscopists.

Lipidomic profiling of plasma from patients with multiple myeloma receiving bortezomib: an exploratory biomarker study of JCOG1105 (JCOG1105A1).

Purpose: A comprehensive analysis of metabolites (metabolomics) has been proposed as a new strategy for analyzing liquid biopsies and has been applied to identify biomarkers predicting clinical responses or adverse events associated with specific treatments. Here, we aimed to identify metabolites associated with bortezomib (Btz)-related toxicities and response to treatment in newly diagnosed multiple myeloma (MM).

Methods: Fifty-four plasma samples from transplant-ineligible MM patients enrolled in a randomized phase II study comparing two less-intensive regimens of melphalan, prednisolone and Btz (MPB) were subjected to the lipidomic profiling analysis.

Acidic Microenvironment Enhances Cisplatin Resistance in Bladder Cancer via Bcl-2 and XIAP.

Cisplatin (CDDP) remains a key drug for patients with advanced bladder cancer (BC), despite the emergence of new therapeutic agents; thus, the identification of factors contributing to CDDP treatment resistance is crucial. As acidity of the tumor microenvironment has been reported to be associated with treatment resistance and poor prognosis across various cancer types, our objectives in this study were to investigate the effects of an acidic environment on BC cells and elucidate the mechanisms behind CDDP resistance. Our findings show that BC cells cultured under acidic conditions developed cisplatin resistance as acidity increased.

Repair of multiple abdominopelvic aneurysms: is the open approach still valid? A case report.

Multiple Aneurysmal Arterial Disease (MAD) is an extremely rare arterial vascular condition and is produced by an abnormal alteration of smooth muscle cells and neutrophils, producing a multiple-aneurysmal degeneration. We present the case of a 36-year-old patient with a MAD in the cerebral territory and extremities with no surgical indication; however, with an aneurysm of the right inferior renal segmental artery, inferior mesenteric artery, left common iliac artery, and right internal iliac artery with surgical indication. An open approach with single-stage surgical repair, including graft interposition, bypass, exclusion, and vascular reimplantation, was performed.

Outcomes in stage IIA versus stage IIB/III in the PALLAS trial [ABCSG-42/AFT-05/PrE0109/BIG-14-13]).

Background: The PALLAS trial investigated the addition of palbociclib to standard adjuvant endocrine therapy to reduce breast cancer recurrence. This pre-specified analysis was conducted to determine whether adjuvant palbociclib benefited patients diagnosed with lower risk stage IIA disease compared to those with higher stage disease.

Methods: PALLAS was an international, multicenter, randomized, open-label, phase III trial, representing a public-private partnership between Pfizer, the Austrian Breast Cancer Study Group, and the U.

Real-world effectiveness of mepolizumab in Japanese asthma patients with diverse backgrounds: Improvements in rhinosinusitis imaging (J-Real-Mepo).

Background: Although randomized controlled trials (RCT) have demonstrated the efficacy of mepolizumab for asthma, they have excluded certain patient subgroups. To bridge the gap between RCT and real-world practice, the effectiveness of mepolizumab in a diverse population, including those potentially excluded from RCT, was assessed. Its effects on imaging findings and symptoms of chronic rhinosinusitis (CRS) with asthma were also assessed.

Duration of infectious virus shedding of SARS-CoV-2 Omicron variant among immunocompromised patients.

Objective: The duration of viral shedding and criteria for de-isolation in the hospital among immunocompromised patients with coronavirus disease 2019 (COVID-19) remain unclear. This study aimed to evaluate viral shedding duration in immunocompromised patients infected with the Omicron variant of severe acute respiratory syndrome coronavirus 2.

Methods: A prospective cohort study was performed at 2 tertiary medical centers in Japan during the Omicron epidemic waves from July 2022 to January 2023.

A new Mediterranean Lifestyle Pyramid for children and youth: a critical lifestyle tool for preventing obesity and associated cardiometabolic diseases in a sustainable context.

Cardiovascular risk factors begin in childhood and track into adulthood, increasing the possibility of impaired cardiometabolic health. Adopting healthy dietary patterns can help curb childhood obesity, a worrisome epidemic problem at present. In the era of personalized nutrition, dietary recommendations should be adapted to different stages of life, including children (older than 3 years) and adolescents.

Therapeutic novelties in acute heart failure and practical perspectives.

Acute Heart Failure (AHF) is a leading cause of death and represents the most frequent cause of unplanned hospital admission in patients older than 65 years. Since the past decade, several randomized clinical trials have highlighted the importance and pivotal role of certain therapeutics, including decongestion by the combination of loop diuretics, the need for rapid goal-directed medical therapies implementation before discharge, risk stratification, and early follow-up after discharge therapies. Cardiogenic shock, defined as sustained hypotension with tissue hypoperfusion due to low cardiac output and congestion, is the most severe form of AHF and mainly occurs after acute myocardial infarction, which can progress to multiple organ failure.

Global Burden of Cardiovascular Diseases and its Risk Factors, 1990-2021: A Systematic Analysis for the Global Burden of Disease Study 2021.

Background: Cardiovascular diseases (CVD) represent a major global health challenge, necessitating up-to-date data on its burden for effective care planning and resource allocation. This study comprehensively analyzes the global, regional, and national CVD burden and associated risks from 1990 to 2021.

Methods And Results: We performed a secondary analysis of CVD burden and risk factors using the Global Burden of Disease (GBD) 2021 study.

Imaging Findings, Complications, and Mimics after Common and Advanced Dental Procedures.

Various new dental treatment methods have been introduced in dental clinics, and many new materials have been used in recent years for dental treatments. Dentistry is divided into several specialties, each offering unique treatments, such as endodontics, implantology, oral surgery, and orthodontics. CT and MR images after dental treatment reveal a variety of hard- and soft-tissue changes and dental materials, which often cause image artifacts.

Exploring novel immunotherapy in advanced esophageal squamous cell carcinoma: Is targeting TIGIT an answer?

Esophageal squamous cell carcinoma (ESCC) is a prevalent and highly lethal malignancy in Asia. Recent advancements in immune checkpoint inhibitors (ICIs) have markedly transformed the systemic therapy landscape for ESCC. Anti-PD-1-based combination with chemotherapy or with ipilimumab, an anti-CTLA-4 antibody, have been established as the new standard first-line treatments for patients with advanced ESCC.

Reversed anatomy in transanal lateral lymph node dissection: landmarks and pitfalls.

Lateral lymph node dissection (LLND) is getting global attention as an a surgical option to reduce local recurrence in locally advanced rectal cancer. As the transanal total mesorectal excision (TaTME) is gaining popularity worldwide, a novel LLND approach was established adopting a two-team approach that combines the transabdominal and transanal approaches using the TaTME technique. This narrative review describes the advantages, anatomical landmarks, surgical techniques, and pitfalls of transanal LLND (TaLLND).

Indications for chemoradiotherapy in older patients with locally advanced head and neck cancer in Japan: a questionnaire survey in the JCOG head and neck cancer study group.

Introduction: Chemoradiation therapy (CRT) with concurrent high-dose cisplatin (CDDP) is one of the standard treatment options for locally advanced head and neck cancer. Since the indications specific to the older population have not been reported, we conducted a multicenter survey on the indications.

Methods: In April and May 2023, a questionnaire survey was emailed to all institutions belonging to the JCOG-HNCSG, consisting of 37 institutions.

Risk factors for rectal wall infiltration in hydrogel spacer placement: Influence of biopsy approach.

Objectives: This study aimed to investigate the association between the type of prostate biopsy and the occurrence of rectal wall infiltration (RWI) with hydrogel spacer placement in patients undergoing radiotherapy for prostate cancer.

Methods: A retrospective study was conducted involving 175 patients who received hydrogel spacer placement before radiotherapy at the National Cancer Center East Hospital, between October 2021 and December 2023. The patients were categorized based on the type of prostate biopsy: transperineal and transrectal.