Tracking changes in image-defined risk factors during neoadjuvant chemotherapy and their predictive value for surgical outcomes based on the International Neuroblastoma Surgical Report Form.

Background: The capacity of presurgical image-defined risk factors (IDRFs) to predict secondary surgical outcomes in patients with neuroblastoma is controversial.

Methods: The International Neuroblastoma Surgical Report Form (INSRF) was employed to retrospectively collect the clinical data of 53 patients diagnosed with neuroblastoma at our hospital from April 2014 to April 2020. IDRFs were identified at the time of diagnosis and reassessed during the course of neoadjuvant chemotherapy.

Outcomes of children with clear cell sarcoma of kidney following NWTS strategies in Shanghai China (2003-2021).

Background: Although clear cell sarcoma of kidney (CCSK) is rare, it is the second most common renal tumor in children after Wilms' tumor. NWTS and SIOP are two major groups which had made tremendous efforts on renal tumors, but the strategies are different, for NWTS follows the upfront surgery principle providing definite pathology and the SIOP follows the upfront chemotherapy principle, each has its own advantages. Here we aimed to evaluate the outcomes of CCSK in China following NWTS strategies to analyze the prognostic factors.

Immunophenotype of lymphocytes and real-world outcome of COVID-19 infection in children with hematology and oncology.

Background: Patients with immunocompromise were suspected to encounter a high risk for severe coronavirus disease 2019 (COVID-19) infection on early period; however, data is lacking nowadays and immune response remain unclear.

Methods: In this retrospective study, internet questionnaire survey and medical records were acquired in pediatric hematology oncology patients. Clinical severity, immunological characteristics, and outcomes were analyzed from December 1, 2022 to January 31, 2023 at the 3rd year of pandemic in China.

Extracranial Germ Cell Tumors in Children: Ten Years of Experience in Three Children's Medical Centers in Shanghai.

Objective: The aim was to describe the clinical features of extracranial germ cell tumors (GCTs) in pediatrics and study the clinical risk factors related to survival for malignant germ cell tumors (MGCTs) in order to optimize therapeutic options.

Methods: The clinical data of children with extracranial GCTs in three children's medical centers in Shanghai were retrospectively analyzed.

Results: In total, 1007 cases of extracranial GCTs diagnosed between 2010 and 2019 were included in this study, including teratomas (TERs) 706 (70.

Targeted next-generation sequencing identifies a novel nonsense mutation in ANK1 for hereditary spherocytosis: A case report.

Background: Hereditary spherocytosis (HS) is characterized by anemia, jaundice, splenomegaly, and cholelithiasis, and is caused by abnormal genes encoding red blood cell membrane components. The most common mutations found in HS are in the gene.

Case Summary: A 4-mo-old girl was admitted to our hospital with pallor that had lasted for more than 2 mo.

First report of successful treatment for hemoglobin Bristol-Alesha by hemopoietic stem cell transplantation.

HBB gene mutations lead to many kinds of diseases, of which, except for the two most common diseases of thalassemia and sickle cell anemia, rare kinds of hemolytic anemia, such as hemoglobin Bristol-Alesha, are rarely reported, no ideal treatment in clinic. A child suffered from chronic recurrent hemolytic attacks and the related genes of hereditary hemolytic anemia were detected on her. Hematopoietic stem cell transplantation was conducted in the treatment of the patient.

Bone and bone marrow involvement in neuroblastoma: A case report.

Rationale: Neuroblastoma (NB) can occur in any part of the sympathetic nervous system, and it is highly heterogeneous. Tumors that only involve bone marrow and bone lesions without solid masses have rarely been reported.

Patient Concerns: A 2-year-old girl child presented with recurrent fever, accompanied by pain in both lower limbs for more than 1 month.

Therapeutic potential of targeting MYCN: A case series report of neuroblastoma with MYCN amplification.

Introduction: Neuroblastoma (NB) with MYCN amplification has a poor prognosis and high mortality. The potential molecular biological relationship between clinical features and MYCN amplification should be explored.

Methods: NB patients were examined by fluorescence in situ hybridization (FISH) for MYCN amplification in the tumor mass or bone marrow samples to determine whether MYCN was amplified.

Sam68 impedes the recovery of arterial injury by augmenting inflammatory response.

Objective: The role of Src-associated-in-mitosis-68-kDa (Sam68) in cardiovascular biology has not been studied. A recent report suggests that Sam68 promotes TNF-α-induced NF-κB activation in fibroblasts. Here we sought to dissect the molecular mechanism by which Sam68 regulates NF-κB signaling and its functional significance in vascular injury.

Pax4 synergistically acts with Pdx1, Ngn3 and MafA to induce HuMSCs to differentiate into functional pancreatic β-cells.

It has been indicated that the combination of pancreatic and duodenal homeobox 1 (Pdx1), MAF bZIP transcription factor A (MafA) and neurogenin 3 (Ngn3) was able to reprogram various cell types towards pancreatic β-like cells (pβLCs). Paired box 4 (Pax4), a transcription factor, has a key role in regulating the maturation of pancreatic β-cells (pβCs). In the present study, it was investigated whether Pax4 is able to synergistically act with Pdx1, Ngn3 and MafA to induce human umbilical cord mesenchymal stem cells (HuMSCs) to differentiate into functional pβCs .

Two novel ANK1 loss-of-function mutations in Chinese families with hereditary spherocytosis.

Hereditary spherocytosis (HS) is the most common inherited haemolytic anaemia disorder. ANK1 mutations account for most HS cases, but pathogenicity analysis and functional research have not been widely performed for these mutations. In this study, in order to confirm diagnosis, gene mutation was screened in two unrelated Chinese families with HS by a next-generation sequencing (NGS) panel and then confirmed by Sanger sequencing.

Epigenetic regulation of megakaryocytic and erythroid differentiation by PHF2 histone demethylase.

Plant homeodomain finger 2 (PHF2) is a JmjC family histone demethylase that demethylates H3K9me2, a repressive gene marker. PHF2 was found to play a role in the differentiation of several tissue types such as osteoblast and adipocyte differentiation. We report here that PHF2 plays a role in the epigenetic regulation of megakaryocytic (MK) and erythroid differentiation.

A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease.

Background: Gaucher's disease (GD) is an autosomal recessive disorder caused by a deficiency of acid β-glucosidase (glucocerebrosidase [GBA]) that results in the accumulation of glucocerebroside within macrophages. Many mutations have been reported to be associated with this disorder. This study aimed to discover more mutations and provide data for the genetic pattern of the gene, which will help the development of quick and accurate genetic diagnostic tools for this disease.

Novel insights into a treatment for aplastic anemia based on the advanced proliferation of bone marrow‑derived mesenchymal stem cells induced by fibroblast growth factor 1.

Aplastic anemia (AA) is rare disease that is predominantly observed in adolescents. Without effective management at an early stage, is associated with a high risk of mortality. Bone marrow mesenchymal stem cells (BMSCs) can differentiate into various types of cell, which are able to produce a number of hematopoietic growth factors considered to be important in AA alleviation.

Real-time polymerase chain reaction for diagnosing infectious mononucleosis in pediatric patients: A systematic review and meta-analysis.

In this meta-analysis, we evaluated the diagnostic role of Epstein-Barr virus deoxyribonucleic acid detection and quantitation in the serum of pediatric and young adult patients with infectious mononucleosis. The primary outcome of this meta-analysis was the sensitivity and specificity of Epstein-Barr virus (EBV) deoxyribonucleic acid (DNA) detection and quantitation using polymerase chain reaction (PCR). A systematic review and meta-analysis was performed by searching for articles that were published through September 24, 2014 in the following databases: Medline, Cochrane, EMBASE, and Google Scholar.

Long term cultured HL-60 cells are intrinsically resistant to Ara-C through high CDA activity.

Cytarabine (araC) is a highly active antimetabolite against hematological malignancy while the agent shows limited activity for some patients despite maintenance or continued therapy with ara-C-containing regiments. In this study, we focused to elucidate the mechanism of intrinsic resistance to araC. The concentration of intracellular ara-CTP and incorporated ara-CTP were monitored in human leukemia cell line-HL-60 for different passages in parental with its variant HL-60R.

Experimental bone marrow failure in mice ameliorated by OCH via tippling the balance of released cytokines from Th1 to Th2.

Background: OCH was reported to stimulate natural killer T (NKT) cells to produce predominantly T helper type 2 (Th2) cytokines. The present study was attempted to evaluate potential protection of OCH on acquired bone marrow failure syndromes (BMFS) in mice model.

Methods: BMFS in mice model was established by exposure to sublethal irradiation followed by infusion with 5 × 10(6) B6 lymph nodes cells.

[Treatment of childhood aplastic anemia with antithymocyte globulin, management of side effects and long-term follow-up].

Objective: To evaluate the efficacy of antithymocyte globulin (ATG) based immunosuppression therapy for childhood aplastic anemia, to reduce the adverse effects and to observe the long-term outcome.

Method: Thirty-five children with aplastic anemia (AA) were enrolled in this study. Six of the cases had very severe AA (VSAA), 11 had severe AA (SAA)-I, 8 had SAA-II and 10 had moderate AA (MAA).

The benefit of ATG in immunosuppressive therapy of children with moderate aplastic anemia.

Background: Previous studies specifically focused on the immunosuppressive therapy (IST) of children with moderate aplastic anemia (MAA) are rare. The aim of this study was to evaluate the advantage of using antithymocyte globulin (ATG) in the IST and its outcome of children with MAA.

Methods: Forty-two children diagnosed with moderate aplastic anemia from 1993 to 2006 were retrospectively reviewed.

[Natural history of moderate aplastic anemia in children and effects of immunosuppressive therapy].

Objective: In contrast to severe aplastic anemia (SAA), the appropriate management of patients with moderate aplastic anemia (MAA) is unclear. Recently, it was reported that when childhood MAA was treated with supportive care alone, 2/3 of patients progressed to SAA, and therefore patients with MAA should be treated with immunosuppressive (IS) therapy in time. The present study aimed to review the natural history, the rate of progression to SAA and outcome of children with MAA seen at our institution over the past 12 years and to explore the relationship between the effectiveness of IS therapy and the immune mediated pathological mechanism.

[Relationship between the expression of the genes encoding the key enzymes for cytarabine metabolism and the pharmacokinetics of cytarabine in the treatment of childhood acute leukemia with high-dose cytarabine].

Objective: It has been reported that high-dose cytarabine (HD-AraC) was very effective for childhood hematological malignancies, especially for improving the long-term survival of high-risk acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), and T-cell lymphoid malignancies (T-ALL, T-cell non-Hodgkin's lymphoma). This study aimed to evaluate the pharmacokinetics of HD-AraC for childhood hematological malignancies, and the relationship between the expression of the genes coding the key enzymes for Ara-C metabolism with the outcome of the patients.

Methods: The drug levels of Ara-C in plasma and cerebrospinal fluid were detected with HPLC while HD-AraC was used, the expression of deoxycytidine kinase (dCK) and cytidine deaminase (CDA) mRNA in human leukemia cell lines and the bone marrow cells were investigated in 48 cases of childhood hematological malignancies with RT-PCR methods, and the relationship between the expression of these enzymes mRNA and the outcome of the patients was analyzed.