ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation.

Bohring-Opitz syndrome (BOS) is a rare disease with a characteristic facial appearance and limb position. This report describes a case of BOS complicated by persistent pulmonary hypertension of the newborn (PPHN) and formation of abnormal alveoli that was confirmed by autopsy. A female neonate was born by cesarean section at 37 weeks and 2 days of gestation and found to have a nevus flammeus, exophthalmos, abnormal palate, retraction of the mandible, and a posture characteristic of BOS.

Appearance time of blood in the brain as a possible indicator of oxygen extraction fraction: a feasibility study.

Background: Imaging examination of cerebral blood flow (CBF), oxygen extraction fraction (OEF), and metabolic rate of oxygen is crucial for understanding the normal functioning and pathophysiology of the brain. A recently developed method estimates the appearance time of cerebral blood (ATB) pixel-wise from the imaging examination of CBF alone. In this study, we aimed to test the potential of ATB as an indicator of OEF.

Effect of extending the period from oral administration of 5-aminolevulinic acid hydrochloride to photodynamic diagnosis during transurethral resection for non-muscle invasive bladder cancer on diagnostic accuracy and safety: a single-arm multicenter phase III trial.

Background: In Japan, the authorized period (2-4 h) between oral administration of 5-aminolevulinic acid hydrochloride (5-ALA) and transurethral resection for non-muscle invasive bladder cancer (NMIBC) may restrict photodynamic diagnosis (PDD) usage. Therefore, this prospective, single-arm, phase III study aimed to evaluate the diagnostic accuracy and safety of PDD at an extended administration period (4-8 h).

Methods: From January 2022 to May 2023, 161 patients with NMIBC were enrolled from eight hospitals.

Clinical utility of BRCA and ATM mutation status in circulating tumour DNA for treatment selection in advanced pancreatic cancer.

Background: Identification of homologous recombination deficiency (HRD) remains a challenge in advanced pancreatic cancer (APC). We investigated the utility of circulating tumour DNA (ctDNA) profiling in the assessment of BRCA1/2 and ATM mutation status and treatment selection in APC.

Methods: We analysed clinical and ctDNA data of 702 patients with APC enroled in GOZILA, a ctDNA profiling study using Guardant360.

Omphalomesenteric Ducts and Urachal Remnants: A Retrospective Study and Case Series.

Purpose: The management strategies for umbilical disorders remain undefined. This study aims to review our experience and propose a management algorithm for symptomatic urachal and omphalomesenteric duct anomalies.

Methods: We retrospectively reviewed medical charts between January 2013 and September 2017 of 28 patients with clinical concern for umbilical disorders, out of which 10 were diagnosed with omphalomesenteric duct remnants (OMDR) or urachal remnants (UR).

Bone marrow edema detection for diagnostic support of axial spondyloarthritis using MRI.

Purpose: This study proposes a process for detecting slices with bone marrow edema (BME), a typical finding of axSpA, using MRI scans as the input. This process does not require manual input of ROIs and provides the results of the judgment of the presence or absence of BME on a slice and the location of edema as the rationale for the judgment.

Methods: First, the signal intensity of the MRI scans of the sacroiliac joint was normalized to reduce the variation in signal values between scans.

Revealing subependymal giant cell astrocytoma with multimodal positron emission tomography: illustrative cases.

Background: There is limited literature on the use of positron emission tomography (PET) for benign tumors originating in the brain ventricles, and the use of multiple tracers for subependymal giant cell astrocytoma (SEGA) has not been reported. The authors compared the PET findings in two SEGA cases with past reports and literature, exploring the distinctive characteristics of SEGA on PET.

Observations: In a 21-year-old female with SEGA, the authors utilized 18F-fluorodeoxyglucose (18F-FDG), 11C-methionine (11C-MET), 18F-fluorothymidine (18F-FLT), 18F-fluoromisonidazole, and 18F-THK5351 tracers.

[A Case of Intrahepatic Cholangiocarcinoma and Early Postoperative Recurrences Using Comprehensive Genome Profiling to Implement Effective Treatment].

Subsequent to a medical examination, a 61-year-old male was referred to our hospital with jaundice. He was diagnosed with intrahepatic cholangiocarcinoma involving the hepatic hilum and was referred to our department to undergo a left trisectionectomy of the liver, extrahepatic bile duct resection, and regional lymphadenectomy. He was discharged on postoperative day 39 without liver failure.

Japanese orthopaedic association (JOA) clinical practice guidelines on the management of malignant bone tumors - Secondary publication.

Background: In Japan, there are currently no general guidelines for the treatment of primary malignant bone tumors. Therefore, the Japanese Orthopaedic Association established a committee to develop guidelines for the appropriate diagnosis and treatment of primary malignant bone tumors for medical professionals in clinical practice.

Methods: The guidelines were developed in accordance with "Minds Clinical Practice Guideline Development Handbook 2014″ and "Minds Clinical Practice Guideline Development Manual 2017".