A cohort of allogeneic hematopoietic stem cell transplantation for pediatric rare diseases (allo-HSCT-PRD): design and preliminary results.

Rare diseases in children have attracted widespread attention worldwide due to their rarity and difficulty in diagnosis and treatment. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is emerging as a promising and curable therapy for multiple rare diseases. However, rare disease research in China is relatively backward, prompting us to construct the first cohort of allo-HSCT for pediatric rare diseases (allo-HSCT-PRD) involving those who underwent allo-HSCT at the Children's Hospital of Fudan University from 1 January 2014 to 31 October 2024.

Allogeneic hematopoietic stem cell transplantation in a patient with combined immunodeficiency caused by IRF4 mutation.

Heterozygous mutations in the interferon regulatory factor 4 (IRF4) can lead to combined immunodeficiency in humans. We report a pediatric case involving a male patient who presented with recurrent pneumonia, chronic diarrhoea, abdominal pain, and a skin rash. Laboratory evaluation revealed hypoglobulinemia and persistent B-cell lymphopenia.

Tumor burden with AFP improves survival prediction for TACE-treated patients with HCC: An international observational study.

Background & Aims: Current prognostic models for patients with hepatocellular carcinoma (HCC) undergoing transarterial chemoembolization (TACE) are not extensively validated and widely accepted. We aimed to develop and validate a continuous model incorporating tumor burden and biology for individual survival prediction and risk stratification.

Methods: Overall, 4,377 treatment-naive candidates for whom TACE was recommended, from 39 centers in five countries, were enrolled and divided into training, internal validation, and two external validation datasets.

hsa_circ_0072309 Inhibits Oncogenesis in Hepatocellular Carcinoma by Epigenetic Activation of its Host Gene.

Recently, numerous studies have revealed the participation of circular RNAs (circRNAs) in cancer progression. Likewise, this research focused on circRNAs in hepatocellular carcinoma (HCC). A lowly expressed circRNA hsa_circ_0072309 in HCC was screened by analyzing the circRNA microarray GSE242797 and GSE216115 and identified in clinical specimens and cells.

Cord Blood Transplantation for Very Early-Onset Inflammatory Bowel Disease Caused by Interleukin-10 Receptor Deficiency.

Purpose: Interleukin-10 receptor (IL-10R) deficiency can result in life-threatening very early-onset inflammatory bowel disease (VEO-IBD). Umbilical cord blood transplantation (UCBT) is a curative therapy for patients with IL-10R deficiency. This study aimed to investigate the efficacy of UCBT in treating IL-10R deficiency and develop a predictive model based on pre-transplant factors.

Late-rising CD4 T cells resolve mouse cytomegalovirus persistent replication in the salivary gland.

Conventional antiviral memory CD4 T cells typically arise during the first two weeks of acute infection. Unlike most viruses, cytomegalovirus (CMV) exhibits an extended persistent replication phase followed by lifelong latency accompanied with some gene expression. We show that during mouse CMV (MCMV) infection, CD4 T cells recognizing an epitope derived from the viral M09 protein only develop after conventional memory T cells have already peaked and contracted.

Nomogram for Predicting Early Mortality after Umbilical Cord Blood Transplantation in Children with Inborn Errors of Immunity.

Purpose: Pediatric patients with inborn errors of immunity (IEI) undergoing umbilical cord blood transplantation (UCBT) are at risk of early mortality. Our aim was to develop and validate a prediction model for early mortality after UCBT in pediatric IEI patients based on pretransplant factors.

Methods: Data from 230 pediatric IEI patients who received their first UCBT between 2014 and 2021 at a single center were analyzed retrospectively.

Cross-cultural adaptation and validation of the PedsQL™ stem cell transplant module in China: A methodological and cross-sectional study.

Background: Hematopoietic stem cell transplantation (HSCT), as a mature technology, has significantly improved the survival rate of children. However, there lack efficient scales to assess the quality of life (QoL) of children with HSCT in China, which has important implications in the care of this population. This study aimed to translate the original English Pediatric Quality of Life Inventory™ (PedsQL™) Stem Cell Transplant Module into a Chinese mandarin version, and evaluate its reliability.

SOX2 suppresses osteoblast differentiation of MC3T3-E1 cells through activating the transcription of LGR4.

Osteogenic differentiation is a crucial process of new bone formation. This study aimed to explore the roles and mechanism of SRY-Box Transcription Factor 2 (SOX2) on proliferation and osteogenic differentiation of MC3T3-E1 cells. Bone morphogenetic protein 2 (BMP2) was used to induce the osteogenic differentiation of MC3T3-E1 cells.

Unrelated umbilical cord blood transplantation for children with hereditary leukodystrophy: A retrospective study.

Objective: To analyze the efficiency of unrelated umbilical cord blood transplantation (UCBT) in the treatment of hereditary leukodystrophy following busulfan- and cyclophosphamide-based myeloablative chemotherapy.

Methods: A retrospective study was performed in patients with hereditary leukodystrophy who underwent UCBT after myeloablative chemotherapy between April 2015 and March 2020.

Results: The study cohort included 12 pediatric patients (ten males), nine with cerebral adrenoleukodystrophy (ALD) and three with juvenile globoid cell leukodystrophy (GLD).

Revealing the intratumoral heterogeneity of non-DS acute megakaryoblastic leukemia in single-cell resolution.

Pediatric acute megakaryoblastic leukemia (AMKL) is a subtype of acute myeloid leukemia (AML) characterized by abnormal megakaryoblasts, and it is divided into the AMKL patients with Down syndrome (DS-AMKL) and AMKL patients without DS (non-DS-AMKL). Pediatric non-DS-AMKL is a heterogeneous disease with extremely poor outcome. We performed single-cell RNA sequencing (scRNA-seq) of the bone marrow from two fusion-positive and one fusion-positive non-DS-AMKL children.

LINC00174 Suppresses Non-Small Cell Lung Cancer Progression by Up-Regulating LATS2 via Sponging miR-31-5p.

Objective: Dysregulation of long non-coding RNAs (lncRNAs) is associated with the progression of non-small cell lung cancer (NSCLC). This study aimed to investigate the role of long intergenic non-protein coding RNA 174 (LINC00174) in NSCLC.

Materials And Methods: In this experimental study, LINC00174 expression in NSCLC tissues and cell lines was investigated by reverse transcription-quantitative polymerase chain reaction (RT-qPCR).

The novel HLA-B*46:85 allele identified by sequencing-based typing in a Chinese individual.

HLA-B*46:85 differs from HLA-B*46:01:01:01 in exon 3 at position 560 by a single non-synonymous mutation.

Single-Cell RNA-seq Reveals Characteristics of Malignant Cells and Immune Microenvironment in Subcutaneous Panniculitis-Like T-Cell Lymphoma.

Background: Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a malignant primary T-cell lymphoma that is challenging to distinguish from autoimmune disorders and reactive panniculitides. Delay in diagnosis and a high misdiagnosis rate affect the prognosis and survival of patients. The difficulty of diagnosis is mainly due to an incomplete understanding of disease pathogenesis.

Successful umbilical cord blood transplantation in children with leukocyte adhesion deficiency type I.

Background: This study aims to investigate the efficacy and safety of umbilical cord blood transplantation (UCBT) without serotherapy for treating children with leukocyte adhesion deficiency type I (LAD-I).

Methods: Clinical characteristics and data of five children with LAD-I who underwent UCBT at our hospital between September 2016 and September 2018 were retrospectively analyzed.

Results: Five (two boys and three girls) patients with LAD-I were included.

LINC00467 promotes cell proliferation and metastasis by binding with IGF2BP3 to enhance the mRNA stability of TRAF5 in hepatocellular carcinoma.

Background: Hepatocellular carcinoma (HCC) has been recognized as a member of the most common human malignant tumors globally. According to multiple studies, long noncoding RNAs (lncRNAs) have been defined as vital regulators in tumor progression. Although previous studies have indicated that lncRNA long intergenic non-protein coding RNA 467 (LINC00467) exerts oncogenic effect in tumorigenesis and the development of cancers, the specific function that LINC00467 induces in HCC remains obscure.

Development of a prognostic score for recommended TACE candidates with hepatocellular carcinoma: A multicentre observational study.

Background & Aims: Previous prognostic scores for transarterial chemoembolization (TACE) were mainly derived from real-world settings, which are beyond guideline recommendations. A robust model for outcome prediction and risk stratification of recommended TACE candidates is lacking. We aimed to develop an easy-to-use tool specifically for these patients.

Microwave Ablation: The Differences Between Biliary Cirrhosis and Normal Porcine Liver Using a Cooled-tip Electrode.

Aim: To elucidate the difference in both in vivo and ex vivo microwave ablation in a biliary cirrhotic porcine liver model using a cooled-tip electrode.

Materials And Methods: Microwave ablation with cooled-tip electrode was conducted under laparotomy. Morphological and pathological characteristics of the ablated areas were compared.

Arginase inhibition protects against hypoxia‑induced pulmonary arterial hypertension.

The present study aimed to determine the role of arginase (Arg) in pulmonary arterial hypertension (PAH). In vitro, human pulmonary artery smooth muscle cells (HPASMCs) were cultured under hypoxic conditions with, or without, the Arg inhibitor, S‑(2‑boronoethyl)‑l‑cysteine (BEC), for 48 h, following which the proliferation of the HPASMCs was determined using MTT and cell counting assays. For the in vivo investigation, 30 male rats were randomly divided into the following three groups (n=10 per group): i) control group, ii) PAH group and iii) BEC group, in which the right ventricle systolic pressure (RVSP) of the rats was assessed.

Feasibility and efficacy of percutaneous lateral lumbar discectomy in the treatment of patients with lumbar disc herniation: a preliminary experience.

Objective: This study was aimed at evaluating the effectiveness and safety of percutaneous lateral lumbar discectomy (PLLD) in treating patients with lumber disc herniation.

Methods: A total of 183 patients with lumbar disc herniation were recruited to receive PLLD surgery from April 2006 to October 2011. All the adverse effects were recorded during the follow-up at 1, 3, 6, and 12 months after PLLD.

T-Stenting-and-Small-Protrusion Technique for Bifurcation Stenoses After End-to-Side Anastomosis of Transplant Renal Artery and External Iliac Artery: Report of Two Cases.

Bifurcation stenoses after end-to-side anastomosis of transplant renal artery (TRA) and external iliac artery (EIA), including stenoses at the anastomosis and the iliac artery proximal to the TRA, are rare. In the present article, we report two successfully managed cases of bifurcation stenoses after end-to-side anastomosis of the TRA and EIA using the technique of T-stenting and small protrusion (TAP stenting).