Machine Learning-Based Prediction of Hemoglobinopathies Using Complete Blood Count Data.

Background: Hemoglobinopathies, the most common inherited blood disorder, are frequently underdiagnosed. Early identification of carriers is important for genetic counseling of couples at risk. The aim of this study was to develop and validate a novel machine learning model on a multicenter data set, covering a wide spectrum of hemoglobinopathies based on routine complete blood count (CBC) testing.

[Normocytic anaemia due to multiple causes].

Anaemia can be subdivided into microcytic, normocytic and macrocytic categories, which give direction to the investigation to identify the cause of the anaemia. However, this is not always straightforward, as this case illustrates. A 73-year-old man with normocytic anaemia appeared to have both beta thalassemia trait (microcytic) and myelodysplastic syndrome (usually macrocytic).

Interference of bovine hemoglobin-based oxygen carrier-201 (Hemopure) on four hematology analyzers.

Introduction: Hemoglobin-based oxygen carriers, for example HBOC-201 (Hemopure), are aimed to bridge acute anemia when blood transfusion is not available or refused by the patient. However, since HBOC-201 appears free in plasma, it interferes with laboratory tests. This study presents an overview of HBOC-201 interference on four commonly used hematology analyzers and suggests treatment monitoring possibilities.

[A patient with erythroderma and pruritus: Sézary syndrome].

Background: Erythroderma could be the first sign of a cutaneous T-cell lymphoma (CTCL), such as Sézary syndrome. Causes of erythroderma include inflammatory dermatosis, toxicoderma, paraneoplastic erytroderma, and CTCL. Hence, diagnosing Sézary syndrome can be difficult.

Transition from fresh frozen plasma to solvent/detergent plasma in the Netherlands: comparing clinical use and transfusion reaction risks.

Plasma transfusion is indicated for replenishment of coagulative proteins to stop or prevent bleeding. In 2014, the Netherlands switched from using ~300mL fresh frozen plasma (FFP) units to using 200mL Omniplasma, a solvent/detergent treated pooled plasma (SD plasma), units. We evaluated the effect of the introduction of SD plasma on clinical plasma use, associated bleeding, and transfusion reaction incidences.

Fatal Acute Hemolytic Transfusion Reaction due to Anti-Wr.

Background: The Wr blood group antigen is a low-frequency antigen. Antibody screening sets used in pretransfusion laboratory investigations usually do not contain a Wr(a+) cell. If subsequent cross-matching is performed without indirect antiglobulin test (IAT), Wr antibodies reacting with donor red blood cells (RBCs) will be missed.

[Diagnosis of haemochromatosis].

Interpretation of laboratory parameters in cases of haemochromatosis can be difficult. Here, we describe two patients with markedly elevated transferrin saturation and high ferritin levels. The first patient is a 51-year-old woman who had been complaining of fatigue, abdominal pain and arthritis for three years.

Validation of the Feverkidstool and procalcitonin for detecting serious bacterial infections in febrile children.

BackgroundTo validate the Feverkidstool, a prediction model consisting of clinical signs and symptoms and C-reactive protein (CRP) to identify serious bacterial infections (SBIs) in febrile children, and to determine the incremental diagnostic value of procalcitonin.MethodsThis prospective observational study that was carried out at two Dutch emergency departments included children with fever, aged 1 month to 16 years. The prediction models were developed with polytomous logistic regression differentiating "pneumonia" and "other SBIs" from "non-SBIs" using standardized, routinely collected data on clinical signs and symptoms, CRP, and procalcitonin.

Age of platelet concentrates and time to the next transfusion.

Background: Storage time of platelet (PLT) concentrates has been negatively associated with clinical efficacy outcomes. The aim of this study was to quantify the association between storage time of PLT concentrates and interval to the next PLT transfusion for different types of PLT components, stored for up to 7 days and transfused to transfusion-dependent hematooncology patients with thrombocytopenia.

Study Design And Methods: From a cohort of patients from 10 major Dutch hospitals, patients were selected whose transfusion patterns were compatible with PLT transfusion dependency due to hematooncologic disease.

Storage time of platelet concentrates and all-cause bacteremia in hematologic patients.

Background: Extension of storage time of platelet (PLT) concentrates may result in an increased risk of bacteremia, directly via transfusion of contaminated products or indirectly via transfusion-related immunomodulation. We aimed to quantify the association of storage time of PLT concentrates and all-cause bacteremia in hematologic patients.

Study Design And Methods: We established a cohort of hematologic patients who received a PLT transfusion between 2005 and 2015.

C-reactive protein, procalcitonin and the lab-score for detecting serious bacterial infections in febrile children at the emergency department: a prospective observational study.

Background: C-reactive protein (CRP) and procalcitonin (PCT) are useful diagnostic tools to estimate the risk of serious bacterial infection (SBI) in febrile children at the emergency department (ED). The Lab-score combines these 2 biomarkers with urinalysis in an easy to use validated model. Kinetics of inflammatory markers suggests a differentiating role of duration of disease.

Left Shift 1+ flag for the detection of band neutrophils: interlaboratory variations and recommendations for the routine laboratory.

Introduction: Microscopic differential analysis of leukocytes is a time-consuming activity for routine diagnostic laboratories. The criteria used to decide whether a manual differential should be performed should therefore be as strict as possible. The goal of this investigation was to give recommendations for the use of the left shift (LS) 1+ flag, which signals the presence of band neutrophils.

Flow cytometric immunobead assay for the detection of BCR-ABL fusion proteins in leukemia patients.

BCR-ABL fusion proteins show increased signaling through their ABL tyrosine kinase domain, which can be blocked by specific inhibitors, thereby providing effective treatment. This makes detection of BCR-ABL aberrations of utmost importance for diagnosis, classification and treatment of leukemia patients. BCR-ABL aberrations are currently detected by karyotyping, fluorescence in situ hybridization (FISH) or PCR techniques, which are time consuming and require specialized facilities.

Wnt3a deficiency irreversibly impairs hematopoietic stem cell self-renewal and leads to defects in progenitor cell differentiation.

Canonical Wnt signaling has been implicated in various aspects of hematopoiesis. Its role is controversial due to different outcomes between various inducible Wnt-signaling loss-of-function models and also compared with gain-of-function systems. We therefore studied a mouse deficient for a Wnt gene that seemed to play a nonredundant role in hematopoiesis.

Ectopic retroviral expression of LMO2, but not IL2Rgamma, blocks human T-cell development from CD34+ cells: implications for leukemogenesis in gene therapy.

The occurrence of leukemia in a gene therapy trial for SCID-X1 has highlighted insertional mutagenesis as an adverse effect. Although retroviral integration near the T-cell acute lymphoblastic leukemia (T-ALL) oncogene LIM-only protein 2 (LMO2) appears to be a common event, it is unclear why LMO2 was preferentially targeted. We show that of classical T-ALL oncogenes, LMO2 is most highly transcribed in CD34+ progenitor cells.

Identification of Notch target genes in uncommitted T-cell progenitors: No direct induction of a T-cell specific gene program.

Deregulated Notch signaling occurs in the majority of human T-ALL. During normal lymphoid development, activation of the Notch signaling pathway poses a T-cell fate on hematopoietic progenitors. However, the transcriptional targets of the Notch pathway are largely unknown.

Gene therapy: is IL2RG oncogenic in T-cell development?

The gene IL2RG encodes the gamma-chain of the interleukin-2 receptor and is mutated in patients with X-linked severe combined immune deficiency (X-SCID). Woods et al. report the development of thymus tumours in a mouse model of X-SCID after correction by lentiviral overexpression of IL2RG and claim that these were caused by IL2RG itself.