Whole-Genome Sequencing for the Prenatal Evaluation of Fetal Structural Anomalies: A prospective multicenter study.

Background: The clinical validity of whole-genome sequencing (WGS) in postnatal settings is well documented, but studies of its use in prenatal settings are limited.

Objectives: The objective of this study was to prospectively evaluate the performance of whole-genome sequencing (WGS) for prenatal diagnosis of fetal structural anomalies compared with the commonly used testing strategy of copy-number variant sequencing (CNV-seq) plus exome sequencing (ES).

Study Design: WGS was performed in parallel with CNV-seq and ES for 96 parent-fetus trios with fetal structural anomalies.

A Multicenter Study of Acute Abdomen in Children With Acute Lymphoblastic Leukemia: CCCG-ALL-2015.

Objective: Acute abdomen presents a significant challenge in the treatment of childhood acute lymphoblastic leukemia (ALL), potentially leading to treatment failure and treatment-related mortality. Results from the multicenter study of CCCG-ALL-2015 showed significant improvements in overall survival (OS) and event-free survival (EFS) for childhood ALL. However, the primary aim of this study was to determine the incidence, risk factors, and clinical impact of acute abdomen in the CCCG-ALL-2015 protocol, with the ultimate goal in the future of establishing evidence-based preventive strategies to reduce its occurrence.

A multicenter single-arm clinical study of Chinese children's cancer group-acute promyelocytic leukemia-2017 (CCCG-APL-2017) protocol.

The Realgar-Indigo Naturalis formula (RIF) is a proprietary Chinese medicine, which is one of the important drugs in the treatment of pediatric acute promyelocytic leukemia (APL). However, the dose of RIF in clinical application is not uniform and the long-term effectiveness and safety of combining RIF with all-trans retinoic acid (ATRA) in a larger population of pediatric APL patients remains undocumented. We conducted a multicenter single-arm clinical trial (ChiCTR-OIC-16010014) in China.

Targeting p16-mediated cellular senescence as a therapeutic strategy for FLT3-ITD-driven acute myeloid leukemia.

Cellular senescence serves as a critical tumor-suppressive mechanism across various cancer types, yet its role in FLT3-ITD-positive acute myeloid leukemia (AML) remains poorly understood. Through the analysis of multiple sequencing datasets, we identified that FLT3-ITD-positive patients with low p16 expression have significantly worse prognoses. Consistent with these clinical findings, knockout of p16 in mice was shown to accelerate FLT3-ITD AML onset.

Progress, Challenges, and Prospects of Short-Read Genome Sequencing in Prenatal Diagnosis.

Background: Whole-genome sequencing (WGS) has been studied increasingly as a genetic testing technology in clinical applications, and its clinical validity has been preliminarily verified. In recent years, WGS has been employed in prenatal diagnosis.

Methods: This review synthesizes the current research and existing guidelines on the use of WGS for prenatal diagnosis.

Measurable residual disease dynamics holding prognostic significance in pediatric patients with -positive AML: results from AML-CAMS serial trials.

Quantitative real-time PCR (qRT-PCR) enables measurable residual disease (MRD) monitoring in -positive acute myeloid leukemia (AML), guiding treatment in patients with morphological remission. However, the optimal thresholds and timing for MRD assessment remain undefined, particularly in pediatric cases due to the rarity. Our analysis of 136 pediatric patients with -positive AML revealed that less than a 3-log reduction after induction chemotherapy predicted an inferior prognosis ( < 0.

Application of an Intestinal Spatula in Optimizing a Sacrospinous Ligament Suspension.

Objective: The purpose of this study was to investigate the application of an intestinal spatula in a sacrospinous ligament suspension, the effects of this surgical method on the surgical field, and surgical effectiveness.

Methods: The clinical data of 33 patients who underwent suspension using intestinal spatula and 33 patients who underwent traditional surgery were collected, and the duration of surgery, amount of intraoperative blood loss, degree of postoperative pain, and degree of preoperative and postoperative uterine prolapse between the two groups were compared.

Results: Multivariate analysis revealed that the modified technique significantly reduced anal pain incidence (OR=0.

Laparoscopy Combined with Transvaginal Approach for Repairing Genital Tract Penetrating Injury: A Case Report.

Female external genital injuries mainly include sexual-related injuries and accidental injuries. Severe cases may experience rapid and massive bleeding, with possible foreign body retention in the body or concurrent injuries to adjacent organs such as the rectum and bladder. Most of these cases require surgical treatment, and the intraoperative situation is complex and changeable.

[Explanation and interpretation of blood transfusion provisions for children undergoing cardiac surgery in the national health standard "Guideline for pediatric transfusion"].

To guide clinical blood transfusion practices in pediatric patients, the National Health Commission has issued the health standard "Guideline for pediatric transfusion" (WS/T 795-2022). Children undergoing cardiac surgery are at high risk of bleeding, and the causes of perioperative anemia and coagulation disorders in neonates and children are complex and varied, often necessitating the transfusion of allogeneic blood components. This guideline provides direction and recommendations for specific measures in blood management for children undergoing cardiac surgery before, during, and after surgery.

Undescribed indanomycin derivatives from ΔidmH mutant of Streptomyces antibioticus.

Indanomycin represents a structurally distinctive polyether ionophore antibiotic featuring a pyrroloketoindane scaffold. The indane ring system, rare among natural products, is postulated to form through an enzymatic Diels-Alder cyclization. To obtain further knowledge of indanomycin biosynthesis, we chemically re-investigated the ΔidmH mutant of Streptomyces antibioticus.

Undescribed ansatrienin analogs from Streptomyces flaveolus including two N-acetylcysteine conjugates.

Ansatrienins, triene-containing C17-benzene ansamycins, have garnered attention owing to their potent cytotoxic properties. In this study, we identified five undescribed ansatrienin analogs from Streptomyces flaveolus: trienomycins M - O (1-3), N-AcCys-ansatrienin 3a (4), and N-AcCys-ansatrienin B (5). Their structures and relative configurations were elucidated using HR-ESI-MS and NMR spectroscopic analyses, whereas their absolute configurations were determined through biosynthetic considerations and time-dependent density functional theory/electronic circular dichroism calculations.

Development of a universal one-pot CRISPR assay based on multifunctional tagged primer eliminating unstable crRNA input and PAM dependency for point-of-care detection of bacterial infections.

The integration of recombinase polymerase amplification (RPA) with CRISPR/Cas12a holds great promise for point-of-care assay of bacterial infections, but still confronts challenges such as the input of unstable RNA, dependence on PAM, and multi-step operations. To address these challenges, we here present a tagged primer-based one-pot CRISPR/Cas12a assay, called TOP-CRISPR. Strategically, TOP-CRISPR utilized target gene-induced amplicons to generate crRNA sequences with the help of T7 RNA polymerase, thus eliminating the need for additional crRNA.

The hidden causes of pregnancy loss: a closer look.

Background: Unexpected pregnancy loss can be a traumatic experience for fertile couples. The aim of the study was to assess the nature and type of chromosomal variants involved in early and late pregnancy loss and provide couples an explanation on the cause of their pregnancy loss.

Methods: Investigations were conducted on 2928 pregnancy loss cases where products of conception (POC) samples could be retrieved for genetic analysis.

[Genetic and clinical characteristics of children with -mutated juvenile myelomonocytic leukemia].

Objectives: To investigate the genomic characteristics and prognostic factors of juvenile myelomonocytic leukemia (JMML) with mutations.

Methods: A retrospective analysis was conducted on the clinical data of JMML children with mutations treated at the Hematology Hospital of Chinese Academy of Medical Sciences, from January 2008 to November 2022.

Results: A total of 34 children were included, with 17 cases (50%) having isolated mutations, 9 cases (27%) having isolated mutations, and 8 cases (24%) having compound mutations.

Antibiotic stewardship in hematological patients with Escherichia coli and Klebsiella pneumoniae bloodstream infections: evaluating short-course and carbapenem-sparing strategies.

Background: To address the overuse of antibiotics, this study examined the clinical characteristics and outcomes associated with antibiotic duration and carbapenem-sparing regimens in hematological patients with Escherichia coli (E. coli) and Klebsiella pneumoniae (K. pneumoniae) bloodstream infections (BSI).

Engineered CRO-CD7 CAR-NK cells derived from pluripotent stem cells avoid fratricide and efficiently suppress human T-cell malignancies.

Background: T-cell malignancies are highly aggressive hematological tumors with limited effective treatment options. CAR-NK cell therapy targeting CD7 has emerged as a promising approach for treating T-cell malignancies. However, conventional CAR-NK cell therapy faces the challenges of cell fratricide due to CD7 expression on both malignant cells and normal NK cells.

Venetoclax plus Modified-Intensity Idarubicin and Cytarabine Treatment as First-Line Treatment for Newly Diagnosed Pediatric Acute Myeloid Leukemia.

Purpose: Venetoclax (VEN) has shown excellent activity in eliminating acute myeloid leukemia (AML) blasts in preclinical and clinical trials, but clinical data in pediatric newly diagnosed AML (ND-AML) remain limited. We evaluated VEN plus modified-intensity idarubicin and cytarabine chemotherapy (VIA) in childhood ND-AML.

Patients And Methods: In an open-label, single-arm, multicenter prospective clinical trial, 65 pediatric patients with ND-AML received VIA induction.

Development and Validation of a Prediction Model for Severe Pre-Engraftment Syndrome During the Treatment of Unrelated Umbilical Cord Blood Transplantation in Pediatric Patients.

Background: Pre-engraftment syndrome (PES) is a common immune response during the early stages of umbilical cord blood transplantation (UCBT), but the severity classification of PES remains uncertain.

Objectives: To develop and validate a predictive model for PES severity in pediatric patients receiving UCBT.

Study Design: This retrospective study (2017-2025) included 123 pediatric patients (training cohort) and 41 external validation cases.

[Explanation and interpretation of blood transfusion provisions for critically ill and severely bleeding pediatric patients in the national health standard "Guideline for pediatric transfusion"].

To guide clinical blood transfusion practices for pediatric patients, the National Health Commission has issued the health standard "Guideline for pediatric transfusion" (WS/T 795-2022). Critically ill children often present with anemia and have a higher demand for transfusions compared to other pediatric patients. This guideline provides guidance and recommendations for blood transfusions in cases of general critical illness, septic shock, acute brain injury, extracorporeal membrane oxygenation, non-life-threatening bleeding, and hemorrhagic shock.

Clinical characteristics and treatment response of chronic disseminated candidiasis in patients with hematological disorders.

Chronic disseminated candidiasis (CDC) is an invasive fungal infection typically affecting patients with hematological diseases and severe neutropenia, associated with increased mortality. However, there is a global shortage of clinical evidence on CDC. We retrospectively analyzed clinical data from 49 CDC patients over the past decade.

Long-term outcome of using Ara-C or not in children's APL.

The use of cytarabine (Ara-C) in treating acute promyelocytic leukemia (APL) is controversial. This study was conducted to demonstrate the effect of treatment with or without Ara-C on long-term event-free survival (EFS) or overall survival (OS). All patients received all-trans retinoic acid (ATRA) + arsenic trioxide (ATO) induction therapy, followed by the course of idarubicin (IDA) and ATO, then were randomly allocated to 2 groups for consolidation therapy, with patients in the daunorubicin (DNR) group received DNR, in the DNR + Ara-C (DA) group received DNR + Ara-C.