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Objective: Comorbid post-traumatic stress disorder in patients with anorexia nervosa may negatively affect the course of anorexia nervosa treatment, which is already challenging. There are currently no guidelines or recommendations on concurrent treatment approaches for both anorexia nervosa and post-traumatic stress disorder. This systematic scoping review aims to explore the feasibility, acceptability and effectiveness of psychological trauma-focused treatment concurrently offered to underweight patients receiving anorexia nervosa treatment., Method: A multi-step literature search, according to an a priori protocol was performed. Databases PubMed, Embase, APA PsycINFO, Web of Science, Scopus and Cochrane Central were searched up to September 19 th 2022, and the search was rerun June 19 th 2023. For quality assessment, Risk of Bias in Non-randomised Studies-of Interventions tool was used., Results: The extensive search yielded 1769 reports, out of which only three observational pilot studies, both English and German, published between 2004 and 2022, could be included. The included studies reported on a total of 13 female participants between 16 and 58 years old, with anorexia nervosa or otherwise specified feeding or eating disorder, baseline BMI ranging between 14.6 and 16.5, who received concurrent anorexia and post-traumatic stress disorder treatment. In all participants, the emotional and cognitive functioning was sufficient to process the offered trauma-focused interventions, despite their significantly low body weight., Discussion: The findings of this review identify a dearth of treatment research on knowledge of concurrent trauma-focused treatments for patients with anorexia nervosa. Refraining patients with anorexia nervosa from trauma-focused treatment may not be warranted., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 van den Berg, Pellemans, Planting, Daansen, van Beers, de Jonge, Christ and Dekker.)

Binge-eating disorder (BED) is a psychiatric disorder characterized by recurrent episodes of eating a large amount of food in a discrete period of time while experiencing a loss of control. Cognitive behavioral therapy-enhanced (CBT-E) is a recommended treatment for binge-eating disorder and is typically offered through 20 sessions. Although binge-eating disorder is highly responsive to CBT-E, the cost of treating these patients is high. Therefore, it is crucial to evaluate the efficacy of low-intensity and low-cost treatments for binge-eating disorder that can be offered as a first line of treatment and be widely disseminated. The proposed noninferiority randomized controlled trial aims to determine the efficacy of web-based guided self-help CBT-E compared to treatment-as-usual CBT-E. Guided self-help will be based on a self-help program to stop binge eating, will be shorter in duration and lower intensity, and will require fewer therapist hours. Patients with binge-eating disorder (N = 180) will be randomly assigned to receive guided self-help or treatment-as-usual. Assessments will take place at baseline, mid-treatment, at the end of treatment, and at 20- and 40-weeks post-treatment. Treatment efficacy will be measured by examining the reduction in binge-eating days in the previous 28 days between baseline and the end of treatment between groups, with a noninferiority margin (Δ) of 1 binge-eating day. Secondary outcomes will include full remission, body shape dissatisfaction, therapeutic alliance, clinical impairment, health-related quality of life, attrition, and an economic evaluation to assess cost-effectiveness and cost-utility. The moderators examined will be baseline scores, demographic variables, and body mass index. It is expected that guided self-help is noninferior in efficacy compared to treatment-as-usual. The proposed study will be the first to directly compare the efficacy and economically evaluate a low-intensity and low-cost binge-eating disorder treatment compared to treatment-as-usual. If guided self-help is noninferior to treatment-as-usual in efficacy, it can be widely disseminated and used as a first line of treatment for patients with binge-eating disorder. The Dutch trial register number is R21.016. The study has been approved by the Medical Research Ethics Committees United on May 25th, 2021, case number NL76368.100.21., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision., (Copyright © 2024 van Beers, Melisse, de Jonge, Peen, van den Berg and de Beurs.)

Sickle cell disease is a hereditary multiorgan disease that is considered rare in the EU. In 2017, the Rare Diseases Plan was implemented within the EU and 24 European Reference Networks (ERNs) were created, including the ERN on Rare Haematological Diseases (ERN-EuroBloodNet), dedicated to rare haematological diseases. This EU initiative has made it possible to accentuate existing collaborations and create new ones. The project also made it possible to list all the needs of people with rare haematological diseases not yet covered health-care providers in the EU to allow optimised care of individuals with rare pathologies, including sickle cell disease. This Viewpoint is the result of joint work within 12 EU member states (ie, Belgium, Cyprus, Denmark, France, Germany, Greece, Ireland, Italy, Portugal, Spain, Sweden, and The Netherlands), all members of the ERN-EuroBloodNet. We describe the role of the ERN-EuroBloodNet to improve the overall approach to and the management of individuals with sickle cell disease in the EU through specific on the pooling of expertise, knowledge, and best practices; the development of training and education programmes; the strategy for systematic gathering and standardisation of clinical data; and its reuse in clinical research. Epidemiology and research strategies from ongoing implementation of the Rare Anaemia Disorders European Epidemiological Platform is depicted., Competing Interests: Declaration of interests MdMMP declares grant funding or contracts from EuroBloodNet Association (RADeep) and Agios Pharmaceuticals (PKDeep) and participation in an advisory board for Agios Pharmaceuticals. RC declares grant funding or contracts from Global Blood Therapeutics, EU grants in the framework of Horizon 2020 and Horizon Europe, and EuroBloodNet Association (RADeep); consulting fees from Global Blood Therapeutics and Novartis; honoraria from Physician's Education Resources and Global Blood Therapeutics; participation on a data safety monitoring board or advisory board for Vertex, Addmedica, and Novonordisk; being a member of the steering committee of the Italian Association of Pediatric Hematology Oncology and coordinator of the Red Cell Disorder Working Group. PB declares grant funding or contracts from EuroBloodNet Association (RADeep). EC declares support for the Spanish Registry of Rare Anemias, partly supported by Novartis; grant funding or contracts from Vall d'Hebrin Research Institute (Integra) and EuroBloodNet Association (RADeep); honoraria from Terumo BCT, Chiesi, and Bionest; support for attending meetings or travel to the European Hematology Association Hemoglobinopathy Working Party 2023 by the European Hematology Association and to the Sociedad Española de Hematología y Oncología Pediátricas 2022 by Novartis; and participation on a data safety monitoring board or advisory board of Novartis (Adakveo) and Vertex. AC declares grant funding or contracts from EuroBloodNet Association (RADeep) and consulting fees from Novartis. LD declares grant funding or contracts from EuroBloodNet Association (RADeep). AG declares grant funding or contracts from Bristol Myers Squibb, Novo Nordisk, and EuroBloodNet Association (RADeep) and participation on a data safety monitoring board or advisory board of Novo Nordisk and Agios Pharmaceuticals. VGV declares grant funding or contracts from EuroBloodNet Association (RADeep). AK declares grant funding or contracts from Novartis and BMS; consulting fees from Agios Pharmaceuticals, Amgen, Bristol Myers Squib/Celgene, Crispr/Vertex, Ionis Pharmaceuticals, Novartis, and Vifor; honoraria from Novartis, Bristol Myers Squib/Celgene, Chiesi, and Crisp/Vertex; and support for attending meetings or travel from Bristol Myers Squib/Celgene. JK declares grant funding or contracts from the Deutsche Kinderkrebsstiftung (German Childhood Cancer Foundation), Pfizer, and Novartis; support for attending meetings or travel for American Society of Hematology Annual Meeting 2020 with support from Art Tempi Communications; participation on a data safety monitoring board or advisory board of Novartis, Global Blood Therapeutics, and Bluebird Bio; and leadership or fiduciary role of the Konsortium Sichelzellkrankheit. SL declares consulting fees for advisory board of Novartis, BlueBird Bio, AddMedica, Global Blood Therapeutics, and Agios; honoraria from Novartis and BlueBird Bio; participation on a data safety monitoring board or advisory board of Novartis, BlueBird Bio, AddMedica, Global Blood Therapeutics, and Agios; leadership or fiduciary role at Vertex CTX001 study program steering committee, in the German National Disease Management Program, and in the German National Treatment Guideline. SR declares grant funding or contracts from EuroBloodNet Association (RADeep). GR declares participation on a data safety monitoring board or advisory board of Biovalley. MS declares payment for expert testimony from Novartis; support for attending meetings or travel to ASCAT 2022 from ERN-EuroBloodNet; leadership or fiduciary role as patient representative for the UK in the Red Cell Network, Patient and Public Voice Group. EvB declares grant funding or contracts from Agios Pharmaceuticals, Horizon Europe, Sikkelcelfonds, and EuroBloodNet Association (RADeep); honoraria from Agios and GSK; support for attending meetings or travel from European Rare Disease Research Coordination and Support Action consortium and EuroBloodNet Association (RADeep); participation on a data safety monitoring board or advisory board at Imara, BMS, Agios, and Forma therapeutics; leading the ERN-EuroBloodNet Transversal Field of Action on Clinical Trials and Research for non-oncological rare haematological diseases; and being a board member of the Benign Hematology Section of the Dutch Society for Hematology (NVVH) and chair of the Dutch Patient Registry for Sickle Cell Disease (SCORE). PK declares grant funding or contracts from EuroBloodNet Association (RADeep). BG declares grant funding or contracts from EuroBloodNet Association (RADeep). All other authors declare no competing interests., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Introduction: In the past decade, investigations of the relationship between sleep duration and eating behaviours have been emerging; however, a formal synthesis of the literature focussed on adolescent populations has not yet been conducted. We conducted a scoping review of the literature examining the relationship between sleep duration and eating behaviours in adolescents. Gaps in the research and directions for future research were identified based on the findings., Methods: A systematic search was employed on four research databases: PubMed, PsycInfo, CINAHL and Scopus; relevant grey literature was also reviewed. Studies that reported on the relationship between sleep duration and eating behaviours among high school-aged adolescents were included in the review. Data were extracted, charted and synthesized into a narrative. Consistent with the purpose of a scoping review, the methodological quality of the studies was not appraised. Stakeholders were consulted to validate the findings and provide insight into the interpretation and identification of pressing gaps in the research that remain to be addressed., Results: In total, 61 studies published between 2006 and 2021 met the criteria for review. Existing research focussed heavily on examining sleep duration in relation to intake of food from certain food groups, beverages and processed foods, and relied on a population study design, cross-sectional analyses and self-report measures., Conclusion: Future research is needed to understand the link between sleep duration and eating-related cognition, eating contexts and disordered eating behaviours in order to better understand how ensuring sufficient sleep among adolescents can be leveraged to support healthier eating practices and reduce diet-related risks., Competing Interests: None.

Iron overload is a severe general complication of hereditary anemias. Treatment with iron chelators is hampered by important side-effects, high costs, and the lack of availability in many countries with a high prevalence of hereditary anemias. In this phase III randomized placebo-controlled trial, we assigned adults with non-transfusion-dependent hereditary anemias with mild-to-moderate iron overload to receive esomeprazole (at a dose of 40 mg twice daily) or placebo for 12 months in a cross-over design. The primary end point was change of liver iron content measured by MRI. A total of 30 participants were enrolled in the trial. Treatment with esomeprazole resulted in a statistically significant reduction in liver iron content that was 0.55 mg Fe/g dw larger than after treatment with placebo (95%CI [0.05 to 1.06]; p = 0.03). Median baseline liver iron content at the start of esomeprazole was 4.99 versus 4.49 mg Fe/g dw at start of placebo. Mean delta liver iron content after esomeprazole treatment was -0.57 (SD 1.20) versus -0.11 mg Fe/g dw (SD 0.75) after placebo treatment. Esomeprazole was well tolerated, reported adverse events were mild and none of the patients withdrew from the study due to side effects. In summary, esomeprazole resulted in a significant reduction in liver iron content when compared to placebo in a heterogeneous group of patients with non-transfusion-dependent hereditary anemias. From an international perspective this result can have major implications given the fact that proton pump inhibitors may frequently be the only realistic therapy for many patients without access to or not tolerating iron chelators., (© 2022 The Authors. American Journal of Hematology published by Wiley Periodicals LLC.)

The present study tested the impact of α-thalassaemia on oxygen gradient ektacytometry in sickle cell anaemia (SCA). Three SCA groups were compared: (i) no α-thalassaemia (four α-genes, n = 62), (ii) silent α-thalassaemia (three α-genes, n = 35) and (iii) homozygous α-thalassaemia (two α-genes, n = 12). Red blood cell (RBC) deformability measured in normoxia was not different between the three groups. The lowest RBC deformability reached at low oxygen partial pressure (pO 2 ) was greater and the pO 2 at which RBC started to sickle was lower in the two α-genes group compared to the other groups. Our present study showed an effect of α-thalassaemia on oxygen gradient ektacytometry in SCA., (© 2021 British Society for Haematology and John Wiley & Sons Ltd.)

Sickle cell disease is an autosomal recessive, multisystem disorder, characterised by chronic haemolytic anaemia, painful episodes of vaso-occlusion, progressive organ failure and a reduced life expectancy. Sickle cell disease is the most common monogenetic disease, with millions affected worldwide. In well-resourced countries, comprehensive care programs have increased life expectancy of sickle cell disease patients, with almost all infants surviving into adulthood. Therapeutic options for sickle cell disease patients are however, still scarce. Predictors of sickle cell disease severity and a better understanding of pathophysiology and (epi)genetic modifiers are warranted and could lead to more precise management and treatment. This review provides an extensive summary of the pathophysiology and management of sickle cell disease and encompasses the characteristics, complications and current and future treatment options of the disease., (Copyright © 2019. Published by Elsevier Ltd.)

Hereditary spherocytosis (HS) is a phenotypically and genetically heterogeneous disease. With the increased use of Next Generation Sequencing (NGS) techniques in the diagnosis of red blood cell disorders, the list of unique pathogenic mutations underlying HS is growing rapidly. In this study, we aimed to explore genotype-phenotype correlation in 95 HS patients genotyped by targeted NGS as part of routine diagnostics (UMC Utrecht, Utrecht, The Netherlands). In 85/95 (89%) of patients a pathogenic mutation was identified, including 56 novel mutations. SPTA1 mutations were most frequently encountered (36%, 31/85 patients), primarily in patients with autosomal recessive forms of HS. Three SPTA1 (α-spectrin) mutations showed autosomal dominant inheritance. ANK1 (ankyrin1) mutations accounted for 27% (23/85 patients) and SPTB (β-spectrin) mutations for 20% (17/85 patients). Moderate or severe HS was more frequent in patients with SPTB or ANK1 mutations, reflected by lower hemoglobin concentrations and higher reticulocyte counts. Interestingly, mutations affecting spectrin association domains of ANK1 , SPTA1 and SPTB resulted in more severe phenotypes. Additionally, we observed a clear association between phenotype and aspects of red cell deformability as determined by the Laser assisted Optical Rotational Cell Analyzer (LoRRca MaxSis). Both maximal deformability and area under the curve were negatively associated with disease severity (respectively r = -0.46, p < 0.01, and r = -0.39, p = 0.01). Genotype-phenotype prediction in HS facilitates insight in consequences of pathogenic mutations for the assembly and dynamic interactions of the red cell cytoskeleton. In addition, we show that measurements of red blood cell deformability are clearly correlated with HS severity., Competing Interests: The other authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2019 the Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the European Hematology Association.)

Historically, the mortality of patients admitted to the ICU after allogeneic stem cell transplantation (alloSCT) is high. Advancements in transplantation procedures, infectious monitoring and supportive care may have improved the outcome. This study aimed to determine short-term and long-term mortality after ICU admission of patients after alloSCT and to identify prognostic clinical and transplantation-related determinants present at ICU admission for long-term outcome. A multicenter cohort study was performed to determine 30-day and 1-year mortality within 2 years following alloSCT. A total of 251 patients were included. The 30-day and 1-year mortality was 55% and 80%, respectively. Platelet count <25 × 10 9 /L (OR: 2.26, CI: 1.02-5.01) and serum bilirubin >19 μmol/L (OR: 2.47 CI: 1.08-5.65) at admission, other donor than a HLA-matched-related or HLA-matched-unrelated donor (OR: 4.59, CI: 1.49-14.1) and vasoactive medication within 24 h (OR: 2.35, CI: 1.28-4.31) were associated with increased 30-day mortality. Other donor than a HLA-matched-related or HLA-matched-unrelated donor (OR: 1.9, CI: 1.13-3.19), serum bilirubin >77 (OR: 2.05, CI: 1.28-3.30) and vasoactive medication within 24 h (OR: 1.65, CI: 1.12-2.43) were associated with increased 1-year mortality. Neutropenia was associated with decreased 30-day and 1-year mortality (OR: 0.29, CI: 0.14-0.59 and OR: 0.70, CI: 0.48-0.98). Myeloablative conditioning and T cell-depleted transplantation were not associated with increased mortality.

Pyruvate kinase deficiency (PKD) is the most common enzyme defect of glycolysis and an important cause of hereditary, nonspherocytic hemolytic anemia. The disease has a worldwide geographical distribution but there are no verified data regarding its frequency. Difficulties in the diagnostic workflow and interpretation of PK enzyme assay likely play a role. By the creation of a global PKD International Working Group in 2016, involving 24 experts from 20 Centers of Expertise we studied the current gaps in the diagnosis of PKD in order to establish diagnostic guidelines. By means of a detailed survey and subsequent discussions, multiple aspects of the diagnosis of PKD were evaluated and discussed by members of Expert Centers from Europe, USA, and Asia directly involved in diagnosis. Broad consensus was reached among the Centers on many clinical and technical aspects of the diagnosis of PKD. The results of this study are here presented as recommendations for the diagnosis of PKD and used to prepare a diagnostic algorithm. This information might be helpful for other Centers to deliver timely and appropriate diagnosis and to increase awareness in PKD., (© 2018 Wiley Periodicals, Inc.)

Chronic lymphocytic leukaemia (CLL) is the most frequent form of leukaemia among adults in the Western world, presenting at a median age of 65 years. The diagnosis is usually made incidentally during routine blood examination while the disease is still in its early phase. We report a case of blindness of 24 hours due to acute sinusitis based on CLL localisation in a patient with undiagnosed CLL. Emergency endoscopic sinus surgery and intra- and extra-ocular orbital decompression were performed. The sinusitis resolved after surgery and intravenous antibiotics. Her vision improved within 24 hours and eventually recovered completely after six months. Her CLL remained in an indolent state, needing no active treatment. This case illustrates that blindness from a lymphoproliferative disorder may be treated with emergency endoscopic sinus surgery instead of conventional chemotherapy in order to salvage the vision first, even if the vision is lost for more than 24 hours.