Paediatric Haematology

Killer immunoglobulin-like receptor (KIR) and KIR-ligand (KIRL) interactions play an important role in natural killer cell-mediated effects after haematopoietic stem cell transplantation (HCT). Previous work has shown that accounting for known KIR-KIRL interactions may identify donors with optimal NK cell-mediated alloreactivity in the adult transplant setting. Paediatric acute leukaemia patients were retrospectively analysed, and KIR-KIRL combinations and maximal inhibitory KIR ligand (IM-KIR) scores were determined...

Acute paediatric leukaemia is diagnosed and monitored via bone marrow aspirate assessment of blasts as a measure of minimal residual disease. Liquid biopsies in the form of blood samples could greatly reduce the need for invasive bone marrow aspirations, but there are currently no blood markers that match the sensitivity of bone marrow diagnostics. Circulating extracellular vesicles (EVs) represent candidate biomarkers that may reflect the blast burden in bone marrow, and several studies have reported on the utility of EVs as biomarkers for adult haematological malignancies...

This study delivers a comprehensive evaluation of the efficacy and pharmacokinetics of high-dose methotrexate (HDMTX) in a large cohort of Chinese paediatric acute lymphoblastic leukaemia patients. A total of 533 patients were included in the prognostic analysis. An association was observed between lower steady-state MTX concentrations (<56 μmol/L) and poorer outcomes in intermediate-/high-risk (IR/HR) patients. Subgroup analysis further revealed that this relationship between concentrations and prognosis was even more pronounced in patients with MLL rearrangements...

Kabuki syndrome (KS) is now listed in the Human Inborn Errors of Immunity (IEI) Classification. It is a rare disease caused by KMT2D and KDM6A variants, dominated by intellectual disability and characteristic facial features. Recurrently, pathogenic variants are identified in those genes in patients examined for autoimmune cytopenia (AIC), but interpretation remains challenging. This study aims to describe the genetic diagnosis and the clinical management of patients with paediatric-onset AIC and KS. Among 11 patients with AIC and KS, all had chronic immune thrombocytopenic purpura, and seven had Evans syndrome...

BACKGROUND: Guidelines about febrile neutropenia in paediatric patients are not homogeneous; the best empiric treatment of this condition should be driven by local epidemiology. The Weighted-Incidence Syndromic Combination Antibiogram (WISCA) addresses the need for disease-specific local susceptibility evidence that could guide empiric antibiotic prescriptions based on outcome estimates of treatment regimens obtained as a weighted average of pathogen susceptibilities. This study developed a WISCA model to inform empirical antibiotic regimen selection for febrile neutropenia (FN) episodes in onco-haematological paediatric patients treated at two Italian paediatric tertiary centres...

The psychometric properties of the EQ-5D-Y have not been widely tested in severely ill children. The aim of this study was to assess and compare the validity and responsiveness of the EQ-5D-Y-3L and EQ-5D-Y-5L in paediatric inpatients with haematological malignancies and caregivers. Respondents completed the interviewer-administered self-complete or proxy version of the EQ-5D-Y-3L and EQ-5D-Y-5L and an overall health assessment twice on different days. Known-groups validity was assessed by comparing patients who differed in overall health and Eastern Cooperative Oncology Group (ECOG) performance...

The use of human leukocyte antigen (HLA)-haploidentical haematopoietic stem cell transplantation (HSCT) with post-transplant cyclophosphamide (PTCY), which markedly reduces the risk of graft-versus-host disease, has rapidly increased worldwide, even in children. It was initially developed for post-transplant relapse or non-remission at transplant for patients with high-risk haematologic malignancies. However, this strategy is currently used more frequently for standard-risk, transplant-eligible paediatric haematological malignancies...

BACKGROUND: Stroke remains one of the leading complications of sickle cell anaemia (SCA) in children. Traditionally, SCA treatment focused on symptom relief. However, the high incidence of strokes in children has prompted a reevaluation of treatment, particularly hydroxyurea, for secondary stroke prevention. This study assesses hydroxyurea's effectiveness and safety in preventing secondary strokes in paediatric SCA patients. METHODS: This systematic review followed a pre-defined protocol registered with PROSPERO...

BACKGROUND: Therapeutic plasma exchange (TPE) has been used as a primary or supportive treatment in critical paediatric patients during the clinical course of many diseases. OBJECTIVES: The objective of this study was to characterise the indications, complications, and outcomes of critically ill children who received TPE in a tertiary referral paediatric intensive care unit (PICU). METHODS: This retrospective observational study was conducted in a tertiary referral 13-bed PICU of a university hospital...

Pyruvate kinase (PK) deficiency is the most common cause of chronic congenital non-spherocytic haemolytic anaemia worldwide, with an estimated prevalence of one in 100 000 to one in 300 000 people. PK deficiency results in chronic haemolytic anaemia, with wide ranging and serious consequences affecting health, quality of life, and mortality. The goal of the International Guidelines for the Diagnosis and Management of Pyruvate Kinase Deficiency was to develop evidence-based guidelines for the clinical care of patients with PK deficiency...

OBJECTIVE: This study aimed to illustrate the effect of malaria infection on red blood cell parameters in children and evaluate the diagnostic relevance of haematological parameters in predicting malaria. METHODS: The studies were identified through databases like PubMed, Google Scholar, and Scopus to retrieve related articles. Fourteen studies were selected by literature search based on inclusion and exclusion criteria, and a meta-analysis on different red blood cell parameters was performed...

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BACKGROUND: Lymphoproliferation and autoimmune cytopenias characterise autoimmune lymphoproliferative syndrome. Other conditions sharing these manifestations have been termed autoimmune lymphoproliferative syndrome-like diseases, although they are frequently more severe. The aim of this study was to define the genetic, clinical, and immunological features of these disorders to improve their diagnostic classification. METHODS: In this prospective cohort study, patients were referred to the Center for Chronic Immunodeficiency in Freiburg, Germany, between Jan 1, 2008 and March 5, 2022...

OBJECTIVES: T-regulatory cells (Tregs) restrain the Th1-mediated immune response and thus may help in persistence and dissemination of childhood Tuberculosis. This study compared the percentage of Tregs in peripheral blood of paediatric TB patients (severe and non severe) with healthy individuals by flow cytometry. METHODS: Study enrolled 40 subjects, less than 12 years along with 20 age matched healthy controls. Cases were further classified as severe TB and non severe TB...

Children with acute lymphoblastic leukaemia (ALL) are at risk for obesity and cardiometabolic diseases. To gain insight into body composition changes among children with ALL, we assessed quantitative computed tomography (QCT) data for specific body compartments (subcutaneous adipose tissue [SAT], visceral adipose tissue [VAT], total adipose tissue [TAT], lean tissue [LT], LT/TAT and VAT/SAT at lumbar vertebrae L1 and L2) at diagnosis and at off-therapy for 189 children with ALL and evaluated associations between body mass index (BMI) Z-score and clinical characteristics...

Frequency, distribution and prognostic meaning of ALK-partner genes other than NPM1 in ALK-positive anaplastic large-cell lymphoma (ALCL) are unknown. Forty-nine of 316 ALCL diagnosed in the NHL-BFM study group showed no nuclear ALK expression suggestive of a variant ALK-partner; 41 were analysed by genomic capture high-throughput sequencing or specific RT-PCRs. NPM1::ALK was detected in 13 cases. Among the 28 patients with a non-NPM1::ALK-fusion partner, ATIC (n = 8; 29%) and TPM3 (n = 9; 32%) were the most common...

PURPOSE: The survival of paediatric oncology patients has improved substantially in the past decades due to advances in the field of oncology. Modern cancer treatments often come with life-threatening complications, of which infection is one of the most common causes in this patient population. This study aims to investigate the prevalence and outcomes of common infections in haemato-oncology patients during their stay in paediatric intensive care unit (PICU) and to identify any factors associated with these infections...

BACKGROUND: Paediatric cancer and critically ill patients frequently require central venous catheters for prolonged intravenous therapy. The aim of this study is to compare the difficulty of catheter insertion and the morbidity related to this procedure in these two populations and to investigate risk factors for complications. METHODS: This prospective observational study was conducted at the Hedi Chaker University Hospital in Sfax, Tunisia, from July 2021 to July 2022...

The hallmark of haemophilia A (HA) therapy is prophylaxis, aimed at spontaneous bleeding prevention. Emicizumab provides a viable alternative to intravenous factor replacement therapy. However, data on its use in infants are limited. This single-centre open arm prospective study reports on emicizumab prophylaxis in infants. We included severe HA patients under 1 year who started emicizumab prophylaxis since 2018, with longitudinal follow-up. The study collected data on demographics, clinical and laboratory variables, the occurrence of bleeding events, surgeries and treatment outcomes...

Shiga toxin (Stx)-producing Escherichia coli -mediated haemolytic uraemic syndrome is a primary thrombotic microangiopathy, typified by the development of microangiopathic haemolytic anaemia, thrombocytopaenia and acute renal failure. It is a leading cause of acute renal failure in paediatrics, with a second peak in prevalence in adults over the age of 60. Presentations of Stx-producing E. coli -mediated haemolytic uraemic syndrome in young adults are rare. We present the case of a previously well female in her early 30s presenting with Stx-producing E...