Energy loss and adults with congenital heart disease: a novel marker of cardiac workload beyond right ventricular size.

Right ventricular (RV) dysfunction after biventricular repair is critical in most adults with congenital heart disease (ACHD). Conventional 2D magnetic resonance imaging (MRI) measurement is considered as a 'gold standard' for RV evaluation; however, addition information on ACHD after biventricular repair is sometimes required. The reasons why adjunctive information is required is as follows: (I) to evaluate the severity of cardiac burden in symptomatic patients with normal RV size and ejection fraction (EF), (II) to determine the optimal timing of invasive treatments in asymptomatic ones, and (III) to detect proactively a potential cardiac burden leading to ventricular deterioration, from a fluid dynamics perspective.

Impact of ursodeoxycholic acid treatment on Fontan-associated liver disease.

Background: Fontan-associated liver disease (FALD) is a type of progressive liver fibrosis that occurs following Fontan surgery and can be complicated by hepatocellular carcinoma (HCC). Established treatments for FALD are lacking. Therefore, we investigated the efficacy of ursodeoxycholic acid (UDCA) in patients with FALD.

Postmortem temporal chest CT and its pathological correlation in piglets.

Post-mortem computed tomography (PMCT) is a useful tool to investigate the cause of death. To appropriately use PMCT for cause-of-death analysis, it is necessary to know natural courses after death such as hypostasis in the lungs. We aimed to investigate the natural time-course change of postmortem chest CT findings and its pathological correlation in piglets.

Quizartinib with donor lymphocyte infusion for post-transplant relapse of FLT3-ITD-positive acute myeloid leukemia.

FMS-like tyrosine kinase 3-internal tandem duplication (FLT3-ITD)-positive acute myeloid leukemia (AML) has a poor prognosis, particularly with DNMT3A and NPM1 mutations. Quizartinib, a FLT3 inhibitor showing clinical benefit in FLT3-ITD-positive AML, has unclear safety and efficacy when combined with donor lymphocyte infusion (DLI). We report a case of FLT3-ITD-positive AML with DNMT3A and NPM1 mutations that relapsed after allogeneic hematopoietic stem cell transplantation (allo-HCT) and was treated with quizartinib and DLI.

His-Bundle Pacing for Pulmonary Hypertension With Bradycardia in Congenital Heart Disease: A Case Report.

Bradycardia, atrial tachyarrhythmia, heart failure, residual shunts, and pulmonary hypertension (PH) are significant problems after congenital heart disease surgery. We performed His-bundle pacing (HBP) for drug-resistant PH with bradycardia in a woman post-total anomalous pulmonary venous return repair complicated by bradycardia, hypertension, PH, residual atrial shunts, and heart failure. Significant improvement in PH post-HBP was achieved without exacerbation of left ventricular function.

Prediction of hepatocellular carcinoma in patients with Fontan-associated liver disease using gadolinium ethoxybenzyl diethylenetriamine pentaacetic acid magnetic resonance imaging.

Aim: The unique feature of Fontan circulation is elevated central venous pressure, which causes Fontan-associated liver disease (FALD). FALD is associated with a high incidence of hepatocellular carcinoma (HCC). Performing biopsies in patients with FALD is difficult as a result of warfarinization; gadolinium ethoxybenzyl diethylenetriamine pentaacetic acid (Gd-EOB-DTPA)-enhanced magnetic resonance imaging (MRI), a noninvasive examination, is useful for characterizing liver disease and detecting HCC.

Right Ventricular Strain With 4-Dimensional Computed Tomography Identifies Pulmonary Hypertension in Adults With Repaired Tetralogy of Fallot.

Background: This study evaluated right ventricular (RV) volume, strain, and morphology using cardiac 4-dimensional computed tomography (4D-CT) to detect pulmonary hypertension (PH) in adults with repaired tetralogy of Fallot (TOF) scheduled for transcatheter pulmonary valve implantation (TPVI).

Methods And Results: Using cardiac 4D-CT data, we calculated RV strain in 3 different geometries and RV outflow tract (RVOT) mass in 42 patients with repaired TOF. We compared RV strain and RVOT mass between patients with and without PH.

Importance of gamma-glutamyl transferase elevation in patients with Fontan-associated liver disease.

Aim: In patients with Fontan-associated liver disease (FALD), gamma-glutamyl transferase (GGT) levels are often elevated, however, its clinical importance is unclear. We investigated the relationship between the clinical course of FALD and GGT levels.

Methods: We enrolled 145 patients with FALD who underwent right-heart catheterization (RHC) and visited our department.

Trends in allogeneic hematopoietic cell transplantation survival using population-based descriptive epidemiology method: analysis of national transplant registry data.

Prognosis for patients undergoing hematopoietic cell transplantation (HCT) has been improving. Short-term survival information, such as crude survival rates that consider deaths immediately after the transplantation, may not be sufficiently useful for assessing long-term survival. Using the data of the Japanese HCT registry, the net survival rate of patients who survived for a given period was determined according to age, disease, and type of transplant.

Identification of Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis.

Background: Peripheral pulmonary stenosis (PPS) is a condition characterized by the narrowing of the pulmonary arteries, which impairs blood flow to the lung. The mechanisms underlying PPS pathogenesis remain unclear. Thus, the aim of this study was to investigate the genetic background of patients with severe PPS to elucidate the pathogenesis of this condition.

[FLT3-ITD mutation-positive acute myeloid leukemia undergoing clonal transition with PTPN11 mutation at relapse].

A 28-year-old man was diagnosed with acute myelomonocytic leukemia. He achieved complete remission (CR) after two cycles of induction therapy. However, after consolidation therapy, bone marrow aspiration performed to prepare for allogeneic hematopoietic stem cell transplantation revealed disease relapse.

The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.

Although the molecular mechanisms underlying congenital heart disease (CHD) remain poorly understood, recent advances in genetic analysis have facilitated the exploration of causative genes for CHD. We reported that the pathogenic variant c.1617del of TMEM260, which encodes a transmembrane protein, is highly associated with CHD, specifically persistent truncus arteriosus (PTA), the most severe cardiac outflow tract (OFT) defect.

Domain transformation using semi-supervised CycleGAN for improving performance of classifying thyroid tissue images.

Purpose: A large number of research has been conducted on the classification of medical images using deep learning. The thyroid tissue images can be also classified by cancer types. Deep learning requires a large amount of data, but every medical institution cannot collect sufficient number of data for deep learning.

Functional characterization of variants found in Japanese patients with hereditary hemorrhagic telangiectasia.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant form of vascular dysplasia. Genetic diagnosis is made by identifying loss-of-function variants in genes, such as ENG and ACVRL1. However, the causal mechanisms of various variants of unknown significance remains unclear.

Serum level of full-length connective tissue growth factor reflects liver fibrosis stage in patients with Fontan-associated liver disease.

Background: Chronic liver disease leads to liver fibrosis, and an accurate diagnosis of the fibrosis stage is crucial for medical management. Connective tissue growth factor (CTGF) is produced by endothelial cells and platelets and plays a central role in inducing fibrosis in various organs. In the present study, we tested the validity of measuring the serum levels of two types of CTGF to estimate the biopsy-confirmed liver fibrosis stage.

Telepathology in intraoperative frozen section consultation of breast cancer sentinel node biopsy in Fukushima, Japan following the 2011 triple disaster: diagnostic accuracy and required time during the early implementation phase.

In breast cancer surgery, some medical facilities lack the necessary resources to conduct sentinel lymph node biopsy and its intraoperative frozen section consultation. In the coastal rural area of Fukushima, Japan, which has suffered from physician undersupply following the 2011 triple disaster of earthquake, tsunami and nuclear disaster, we explored the feasibility of telepathology by evaluating the diagnostic accuracy in remote intraoperative frozen section consultation of sentinel lymph node biopsy and its required time. Although examination time has room for improvement, telepathology can be one possible solution in resource-limited areas.

Improved artificial intelligence discrimination of minor histological populations by supplementing with color-adjusted images.

Despite the dedicated research of artificial intelligence (AI) for pathological images, the construction of AI applicable to histopathological tissue subtypes, is limited by insufficient dataset collection owing to disease infrequency. Here, we present a solution involving the addition of supplemental tissue array (TA) images that are adjusted to the tonality of the main data using a cycle-consistent generative adversarial network (CycleGAN) to the training data for rare tissue types. F1 scores of rare tissue types that constitute < 1.

4D flow MRI-derived energy loss and RV workload in adults with tetralogy of Fallot.

Purpose: To assess flow energy loss (EL) pattern inside the pulmonary circulation in adult patients with repaired tetralogy of Fallot (TOF), particularly in TOF with pulmonary stenosis (PS) and pulmonary regurgitation (PR), as a cardiac workload parameter and its relationship to symptoms and major adverse cardiovascular events (MACE).

Methods: Prospectively, 51 consecutive TOF adults after intracardiac repair, who underwent four-dimensional flow magnetic resonance imaging, were enrolled. All of them had significant PR (PR regurgitant fraction >25 %).

Elevation of Urinary Liver-Type Fatty Acid-Binding Protein Is a Harbinger of Poor Patient Prognosis after Allogeneic Stem Cell Transplantation.

Several recent studies have demonstrated that urinary levels of liver-type fatty acid-binding protein (L-FABP) can be used to stratify the prognosis of cardiac disease, cardiac intensive care unit admission, cirrhosis, and coronavirus disease 2019. Our initial prospective study revealed that urinary L-FABP (uL-FABP) was associated with a high probability of acute kidney injury after stem cell transplantation (SCT); however, the relevance of elevated uL-FABP to the prognosis of patients undergoing SCT remains to be determined. We aimed to investigate whether uL-FABP levels can be used to stratify patient prognosis after SCT.

The experience of introducing telepathology in Mongolia.

Background: Anatomical pathology care services play an essential role in cancer diagnosis through histological analysis, effective treatment of patients, and determination of prognosis. Therefore, quality control is necessary for the diagnosis of pathology. Based on this need, telepathology technology is rapidly developing in the world.

Exploration of sepsis assisting parameters in hospital autopsied-patients: a prospective study.

Although Sepsis-3 doesn't require evidence of bacteremia to diagnose sepsis, clinicians often want to identify the causative pathogen at autopsy. In principle, if the blood cultures are the same at ante- and postmortem, the cause of death is obvious. However, interpretations of postmortem blood cultures are often difficult due to discordance, negativity, mixed infection, and contamination, of pathogens occupying ≥ 50% of the tests.