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.

Deciphering the Complexities of Adult Human Steady State and Stress-Induced Hematopoiesis: Progress and Challenges.

Human hematopoietic stem cells (HSCs) have traditionally been viewed as self-renewing, multipotent cells with enormous potential in sustaining essential steady state blood and immune cell production throughout life. Indeed, around 86% (10-10) of new cells generated daily in a healthy young human adult are of hematopoietic origin. Therapeutically, human HSCs have contributed to over 1.

Severe hypophosphatemia following idecabtagene vicleucel regardless of the severity of cytokine release syndrome.

Background Aims: Hypophosphatemia has been recently recognized adverse event in chimeric antigen receptor (CAR)-T cell therapy, complicating 70-75% of patients. Severe hypophosphatemia can cause cytokine release syndrome (CRS)-like symptoms, such as respiratory and cardiovascular dysfunction. Some reports have described the association between inorganic phosphate (iP) and CRS in patients treated with tisagenlecleucel (tisa-cel), lisocabtagene maraleucel (liso-cel), axicabtagene ciloleucel (axi-cel).

Self-interactive learning: Fusion and evolution of multi-scale histomorphology features for molecular traits prediction in computational pathology.

Predicting disease-related molecular traits from histomorphology brings great opportunities for precision medicine. Despite the rich information present in histopathological images, extracting fine-grained molecular features from standard whole slide images (WSI) is non-trivial. The task is further complicated by the lack of annotations for subtyping and contextual histomorphological features that might span multiple scales.

Effects of Combined Periodontal, Endodontic, and Dentoalveolar Surgical Treatments on Laboratory Parameters in Patients with Hyperlipidemia-A Clinical Interventional Study.

Patients with hyperlipidemia are of interest because of the possible interplay between chronic local dental infections and hyperlipidemia. This interventional clinical study aimed to evaluate the oral health status of hyperlipidemic patients receiving lipid-lowering therapy for at least 6 months and the effects of non-surgical and surgical dental treatments on serum C-reactive protein (CRP) levels and lipid markers. Twenty-eight patients with controlled hyperlipidemia and 18 healthy controls were enrolled in the study.

Complete genome sequence of . GTC17253 isolated from equine in Japan.

is one of the major clinical anaerobic bacteria belonging to the family . Herein, we report the complete genome sequence of a clinical isolate of new species obtained from equine bronchial lavage fluid in Japan. The genome comprised a circular chromosome with a length of 2,948,037 bp.

Characterization of integrative and conjugative elements carrying erm(B) and tet(O) resistance determinants in streptococcus uberis isolates from bovine milk in Chiba prefecture, Japan: CompArative GEne cluster analysis toolbox with ICEfinder.

Objective: We aimed to characterize integrative and conjugative elements (ICEs) in antimicrobial resistant Streptococcs uberis isolates from bovine milk in Chiba, Japan, based on whole-genome sequence (WGS) data.

Results: Of the 101 isolates, we found the 36 isolates harboring erm(B)-tet(O), showing resistance to macrolides-lincosamides-tetracyclines. The 22 isolates were randomly selected and subject to WGS determination.

Bestrophin-4 relays HES4 and interacts with TWIST1 to suppress epithelial-to-mesenchymal transition in colorectal cancer cells.

Bestrophin isoform 4 () is a newly identified subtype of the calcium-activated chloride channel family. Analysis of colonic epithelial cell diversity by single-cell RNA-sequencing has revealed the existence of a cluster of + mature colonocytes in humans. However, if the role of is involved in regulating tumour progression remains largely unknown.

Prevalence Estimation of Dysfibrinogenemia Using the Clauss-CWA Approach.

Introduction: The actual prevalence of the qualitative fibrinogen abnormalities dysfibrinogenemia and hypodysfibrinogenemia is unknown. The major reasons are that patients with dysfibrinogenemia are frequently asymptomatic, and a recommended screening test, the Clauss fibrinogen assay, cannot completely distinguish qualitative from quantitative abnormalities. We previously established a high-throughput screening test (Clauss-CWA) to identify dysfibrinogenemia with high specificity and sensitivity by the Clauss fibrinogen assay alone.

Outcomes of allogeneic SCT versus tisagenlecleucel in patients with R/R LBCL and poor prognostic factors.

This study investigated the efficacy of tisagenlecleucel (tisa-cel) and allogeneic hematopoietic stem cell transplantation (allo-SCT) for patients with relapsed and/or refractory (r/r) large B-cell lymphoma (LBCL) with poor prognostic factors, defined as performance status (PS) ≥ 2, multiple extranodal lesions (EN), chemorefractory disease, or higher lactate dehydrogenase (LDH). Overall, the allo-SCT group demonstrated worse progression-free survival (PFS), higher non-relapse mortality, and a similar relapse/progression rate. Notably, the tisa-cel group showed better PFS than the allo-SCT group among patients with chemorefractory disease (3.

Signaling pathways and bone marrow microenvironment in myelodysplastic neoplasms.

Key signaling pathways within the Bone Marrow Microenvironment (BMM), such as Notch, Phosphoinositide-Specific Phospholipase C (PI-PLCs), Transforming Growth Factor β (TGF-β), and Nuclear Factor Kappa B (NF-κB), play a vital role in the progression of Myelodysplastic Neoplasms (MDS). Among the various BMM cell types, Mesenchymal Stromal Cells (MSCs) are particularly central to these pathways. While these signaling routes can independently affect both MSCs and Hematopoietic Stem Cells (HSCs), they most importantly alter the dynamics of their interactions, leading to abnormal changes in survival, differentiation, and quiescence.

The First Case of a Cat Infected with , a Member of the Complex.

The complex (Bcc) is a group of bacteria with similar biological properties which are an important cause of opportunistic infections. Identification of the Bcc species is important to understand clinical outcomes in human patients. However, there are few studies of Bcc species infecting companion animals such as cats.

An Optimal Transport Medium for SARS-CoV-2 Detection in the Direct Method of Rapid Microfluidic PCR System.

Background: Recently developed rapid real-time reverse transcription PCR (RT-PCR) systems adopting microfluidic thermal cycling technology are ideal for point-of-care (POC) testing for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Because the RNA extraction step before real-time RT-PCR is rate-limiting, a direct RNA extraction method (direct method) that adopts chemical viral lysis and eliminates RNA purification steps is preferable for rapid real-time RT-PCR. In the direct method, selecting the transport medium is essential because it may be introduced into subsequent real-time RT-PCR steps, but might inhibit PCR.

Glycosylation changes of vWF in circulating extracellular vesicles to predict depression.

The clinical diagnosis of major depressive disorder (MDD) still depends on subjective information in terms of various symptoms regarding mood. Detecting the characterization of extracellular vesicles (EVs) in blood may result in finding a diagnostic biomarker that reflects the depressive stage of patients with MDD. Here, we report the results on the glycosylation pattern of enriched plasma EVs from patients with MDD.

Prognostic and therapeutic implication of molecular classification including L1CAM expression in high-risk endometrial cancer.

Introduction: The role of molecular classification and L1CAM in high-risk endometrial cancer is uncertain. We aimed to determine the association of molecular profiling and L1CAM with patterns of relapse and survival.

Material And Methods: This retrospective cohort study included patients referred to Department for Gynecologic Oncology, Oslo University Hospital between January 1, 2006 and December 31, 2017.

Increased thrombin generation in kidney transplant recipients with donor-specific antibodies directed against human leukocyte antigens.

Introduction: The development of anti-HLA donor specific antibodies (DSAs) is associated with poor outcomes in kidney transplant recipients. It is surmised that an interaction between DSAs and the graft endothelium cause tissue injury, however, the exact underlying pathomechanism and optimal management of patients with DSAs remain undetermined.

Aims: We hypothesized that in kidney transplant recipients the presence of DSAs induce hemostasis alterations, including hypercoagulability, as assessed by the thrombin generation assay (TGA).

Association Between Coagulation Fibrinolysis Markers and Severity in Patients with COVID-19.

Introduction: Thrombosis is a major complication of COVID-19. D-dimer (DD) is an important coagulation fibrinolysis marker in COVID-19 and has been extensively studied. However, very little is known about the role of other fibrinolysis markers, plasmin-plasmin inhibitor complex (PIC), and fibrin monomer complex (FMC) in COVID-19.

Altered genomic methylation promotes Staphylococcus aureus persistence in hospital environment.

Staphylococcus aureus can cause outbreaks and becomes multi-drug resistant through gene mutations and acquiring resistance genes. However, why S. aureus easily adapts to hospital environments, promoting resistance and recurrent infections, remains unknown.

Streptococcus canis transcriptomic modifications in host cell entry environments of human keratinocytes.

Background: Streptococcus canis is a commensal bacterium in companion animals. This microorganism can infect humans who have been in deep contact with or bitten by pet dogs, suggesting that the skin/soft tissue is one of infection entry sites. To understand pathological process in human cells, we aimed to determine S.