RESUMEN

Large language models (LLMs) have significantly impacted various fields with their ability to understand and generate human-like text. This study explores the potential benefits and limitations of integrating LLMs, such as ChatGPT, into haematology practices. Utilizing systematic review methodologies, we analysed studies published after 1 December 2022, from databases like PubMed, Web of Science and Scopus, and assessing each for bias with the QUADAS-2 tool. We reviewed 10 studies that applied LLMs in various haematology contexts. These models demonstrated proficiency in specific tasks, such as achieving 76% diagnostic accuracy for haemoglobinopathies. However, the research highlighted inconsistencies in performance and reference accuracy, indicating variability in reliability across different uses. Additionally, the limited scope of these studies and constraints on datasets could potentially limit the generalizability of our findings. The findings suggest that, while LLMs provide notable advantages in enhancing diagnostic processes and educational resources within haematology, their integration into clinical practice requires careful consideration. Before implementing them in haematology, rigorous testing and specific adaptation are essential. This involves validating their accuracy and reliability across different scenarios. Given the field's complexity, it is also critical to continuously monitor these models and adapt them responsively.

RESUMEN

The t(1;19) (q23;p13) TCF3::PBX1 is a well-described, recurring chromosomal abnormality in B-acute lymphoblastic leukaemia (B-ALL) that has historically been associated with a worse prognosis in paediatric patients. Gene expression profiling has demonstrated that TCF3::PBX1 results in a distinct subtype of B-ALL, leading to its recognition in the most recent WHO and ICC classifications. Though initially believed to be a poor prognostic sign in the adult population, emerging evidence suggests its presence may instead be intermediate or even favourable in B-ALL. However, adults with TCF3::PBX1 are typically younger and often qualify for treatment with paediatric-inspired regimens. Thus, the prognostic significance in this population remains unclear. This translocation appears to be very rare in older adults with B-ALL and its predictive and prognostic nature in this population is unknown. Herein, we explore a case of this translocation occurring in a patient in her 70s. She initially presented to the emergency department with abdominal pain and thrombocytopenia and was subsequently diagnosed with B-ALL. In addition to t(1;19) (q23;p13), a pathologic mutation in the CBL gene was identified. CBL mutations have been implicated in cancer progression and are mostly described in paediatric B-ALL. She was treated with modified Ph-negative EWALL induction (Vincristine, Idarubicin, dexamethasone) and achieved a complete remission. However, she subsequently experienced an early relapse and was refractory to targeted therapy with blinatumomab. After treatment with inotuzumab ozogamicin, she achieved a second complete remission. Unfortunately, she then suffered a central nervous system (CNS) relapse and passed away from complications of her disease. This case serves as an example of the heterogeneous nature of B-ALL. It demonstrates that patients with ostensibly favourable prognostic factors may experience poor response rates to traditional chemotherapy as well as targeted salvage agents. It also illustrates the challenges of treating B-ALL in the elderly population.

Asunto(s)

RESUMEN

Multidrug therapy has significantly reduced the global burden of Hansen's disease; however, complications from long-term treatment persist. A male resident of southern Kentucky, in his 30s and of Micronesian descent, presented with worsening abdominal pain associated with anorexia, fatigue, functional decline and occasional haemoptysis. He was compliant with multidrug therapy for leprosy. Laboratory investigations revealed pancytopenia. He was initially treated under a sepsis protocol and later switched to high-dose steroids due to a suspected immune reaction from missed corticosteroid doses. Despite aggressive treatment for refractory pancytopenia, the patient's condition deteriorated, and he passed away from cardiac arrest. Posthumous bone marrow biopsy revealed haemophagocytic lymphohistiocytosis secondary to disseminated histoplasmosis with bone marrow infiltration. This case highlights the importance of proactive fungal screening in immunocompromised leprosy patients, particularly in endemic regions, as early detection and timely intervention can prevent severe complications.

Asunto(s)

RESUMEN

In response to the French hospital system crisis and the challenges faced by the heads of departments, we have undertaken an initiative to create a community of heads of haematology departments willing to assist each other. Our inaugural seminar, held in January 2023, established the foundational "core" group of heads of department. Throughout 2023, this emerging community has prospered, offering sustained support to peers. In January 2024, we broadened our community to include other heads of departments, following a second seminar gathering 36 participants. During this event, we took the time to exchange thoughts and reflect on our missions. Building on the experience of guest speakers and employing methods of co-development and co-construction in plenary sessions, small-group workshops, and social gathering, we were able to discover and experience the collective intelligence, creativity, strength, and support stemming from such a group. This peer community of heads of departments stands as a powerful tool for management support, whereby personal experiences nourish and enrich the experience of others. We hope that our initiative will inspire heads of departments from other specialties so that, together, we can better work towards our missions as heads of departments and collaborate on rebuilding the hospital "from the bottom up".

RESUMEN

The aim of this scoping review is to describe the role, education, policies/regulation, skills and competencies required for advanced practice in paediatric haematology-oncology nursing in Europe, highlighting the differences in development between the different European countries. A scoping review was conducted following the methodological framework of guidelines by Arksey and O'Malley and the recommendations for advancing the methodology by Levac et al. We searched MEDLINE/PubMed, EMBASE, CINAHL, Cochrane Library, Scopus, grey literature, webpages, reference lists and performed a manual search, without any restrictions on language or time. The intersection between databases, grey literature and evidence documents traced from the sites of the most authoritative European organisations in the field made it possible to identify the regulatory and training differences between the various countries that were examined. This scoping review highlights how advanced knowledge and competences are used in the care of paediatric haematology-oncology patients, which are strictly necessary for implementing quality care. At present these competences are not recognised in policies and regulation in most of the countries that were examined. It is desirable that all EU member states work to implement a radical change and allow these more competent figures to assist patients in the best possible way.

RESUMEN

Splenic marginal zone lymphoma (SMZL) is a rare, predominantly indolent B-cell lymphoma constituting fewer than 2% of lymphoid neoplasms. However, around 30% of patients have a shorter survival despite currently available treatments and the prognosis is especially poor for the 5-15% of cases that transform to a large cell lymphoma. Mounting evidence suggests that the molecular pathogenesis of SMZL is critically shaped by microenvironmental triggering and cell-intrinsic aberrations. Immunogenetic investigations have revealed biases in the immunoglobulin gene repertoire, indicating a role of antigen selection. Furthermore, cytogenetic studies have identified recurrent chromosomal abnormalities such as deletion of the long arm of chromosome 7, though specific disease-associated genes remain elusive. Our knowledge of SMZL's mutational landscape, based on a limited number of cases, has identified recurring mutations in KLF2, NOTCH2, and TP53, as well as genes clustering within vital B-cell differentiation pathways. These mutations can be clustered within patient subgroups with different patterns of chromosomal lesions, immunogenetic features, transcriptional signatures, immune microenvironments, and clinical outcomes. Regarding SMZL epigenetics, initial DNA methylation profiling has unveiled epigenetically distinct patient subgroups, including one characterized by elevated expression of Polycomb repressor complex 2 (PRC2) components. Furthermore, it has also demonstrated that patients with evidence of high historical cell division, inferred from methylation data, exhibit inferior treatment-free survival. This review provides an overview of our current understanding of SMZL's molecular basis and its implications for patient outcomes. Additionally, it addresses existing knowledge gaps, proposes future research directions, and discusses how a comprehensive molecular understanding of the disease will lead to improved management and treatment choices for patients.

RESUMEN

Given the significant limitations of available literature, central nervous system (CNS) prophylaxis in large B-cell lymphomas remains debatable. Wilson and colleagues provide cautious recommendations, on a case-by-case basis, useful to guide discussion with individual patient. In daily practice, CNS relapse risk, prophylaxis safety and prognosis of CNS recurrence must be considered. Commentary on: Wilson et al. Central nervous system prophylaxis in large B-cell lymphoma: A British Society for Haematology Good Practice Paper. Br J Haematol 2024 (Online ahead of print). doi: 10.1111/bjh.19686.

RESUMEN

INTRODUCTION: Sickle cell disease (SCD) poses a significant global health burden, particularly affecting individuals in developing countries with constrained healthcare resources. While research on self-management in the context of SCD is emerging, it has predominantly focused on primary studies. The aim of the scoping review was to identify and map self-management needs of individuals living with SCD, the strategies they employed to meet those needs, and the support interventions available to them. METHODS AND ANALYSIS: The review was conducted following the Askey and O'Malley's framework to examine the landscape of SCD self-management research. Searches were conducted in PubMed, Scopus, Embase and Dimensions AI, with additional searches in other databases from inception to June 2024 included. Evidence from 14 studies was synthesised to identify self-management needs, strategies and interventions for individuals with SCD. RESULTS: The review identified diverse self-management needs among individuals with SCD, including knowledge deficits, emotional challenges, physical limitations and barriers to healthcare access. Various self-management strategies were reported, such as nutritional management, psychological coping techniques and proactive healthcare management. Self-management interventions, predominantly delivered by healthcare professionals, focused on providing education, skills training and support to individuals with SCD. The outcomes of self-management interventions consistently demonstrated significant improvements across various dimensions, including self-efficacy, knowledge enhancement, self-care practices and psychological well-being among individuals with SCD. CONCLUSION: This scoping review underscores the importance of addressing the diverse self-management needs of individuals with SCD through tailored interventions and support systems to enhance overall well-being and disease management. Healthcare professionals should prioritise the implementation of multidisciplinary self-management interventions that encompass medical, emotional and social aspects of care to effectively support individuals with SCD in managing their condition. Future research should focus on longitudinal studies to assess the long-term effectiveness of self-management interventions in improving patient outcomes.

Asunto(s)

RESUMEN

Bone marrow biopsy (BMB) is a routinely performed procedure, with the preferred site being the posterior superior iliac crest. Uncommonly, it may be complicated by haemorrhagic complications, especially in patients with coagulopathy. Here, we present a case of pelvic haematoma following a BMB due to the injury of the right internal iliac artery. Endovascular embolisation was performed on an urgent basis to manage this complication. The bleeding stopped following the embolisation.

Asunto(s)

RESUMEN

Apixaban is a widely used direct oral anticoagulant that is recommended over warfarin therapy for many clinical indications. In patients with atrial fibrillation, dose reductions are recommended for patients with advanced age (≥80 years), low weight (≤60 kg) or elevated serum creatinine (≥1.5 mg/dL), but there is no routine laboratory monitoring necessary for long term-use. Furthermore, apixaban dose reductions due to renal dysfunction are not recommended when treating acute venous thromboembolism. Apixaban-calibrated anti-Xa assays are readily available at some medical centres, and they may be of clinical utility in certain circumstances such as in patients with renal insufficiency, medication adherence assessment, periprocedural planning, extremes in body weight and advanced age. Here, we describe the case of an elderly patient with chronic kidney disease taking apixaban for acute pulmonary embolism. The patient had an unanticipated prolonged apixaban half-life, with detectable apixaban-calibrated anti-Xa levels for >10 days after the last administered dose, which delayed a necessary surgical intervention by >1 week. This case is an example of appropriately using apixaban-calibrated anti-Xa levels to guide therapeutic decision making in perioperative planning.

RESUMEN

BACKGROUND: Assessing multidisciplinary prehabilitation strategies becomes crucial to pre-emptively counter the physical, psychological and social negative impacts experienced during an allogenic haematopoietic stem cell transplant (allo-HSCT) among acute myeloid leukaemia (AML) and myelodysplastic syndrome (MDS) patients. Current evidence is restricted to studies during induction chemotherapy, omitting rehabilitation interventions and predominantly using exercise-only approaches without a multidisciplinary framework. The aim of this study is to investigate the feasibility, safety and preliminary efficacy of multidisciplinary prehabilitation in adults offered allo-HSCT. METHODS AND ANALYSIS: This 8-week single-group pre-post feasibility study aims to pilot a multidisciplinary prehabilitation intervention for participants undergoing allo-HSCT, with a focus on feasibility and safety. Participants, aged 18 or older, diagnosed with AML or MDS, and offered allo-HSCT, will be recruited between June 2023 and July 2024. The multidisciplinary prehabilitation intervention, conducted by the cancer allied health team at the Royal Adelaide Hospital, includes exercise physiology, physiotherapy, dietetics, social work, occupational therapy and psychology interventions. Consistent with a multidisciplinary treatment approach, each component is tailored to address different aspects of patient care, and adherence calculations will assess patient engagement and compliance. In addition, participants will continue to receive usual care from cancer allied health staff. The primary outcome of the study is to assess the feasibility of a multidisciplinary prehabilitation intervention by evaluating intervention uptake, retention, adherence, acceptability and safety. Secondary outcomes are leg strength, upper-body strength, aerobic fitness, falls risk, anthropometry, nutritional status, quality of life, anxiety, depression, self-efficacy for coping with cancer and distress. ETHICS AND DISSEMINATION: Ethics approval for this study has been provided by the Central Adelaide Local Health Network (HREC 2022/HRE00284). Recruitment for the study commenced in June 2023 and will continue until July 2024. The methods have been designed and are reported according to the SPIRIT and CONSORT-pilot study checklist. TRIAL REGISTRATION NUMBER: The Australian New Zealand Clinical Trials Registry (ANZCTR): ACTRN12623000052639.

Asunto(s)

RESUMEN

Introduction: Multiple myeloma (MM) is diagnosed in 6,000 people in the UK yearly. A performance status measure, based on the patients' reported level of physical activity, is used to assess patients' fitness for treatment. This systematic review aims to explore the current evidence for the acceptability of using wearable devices in patients treated for MM to measure physical activity directly. Methods: Three databases were searched (MEDLINE, EMBASE and CINAHL) up until 7th September 2023. Prospective studies using wearable devices to monitor physical activity in patients on treatment for MM were included. Bias across the studies was assessed using the CASP tool. Results: Nine studies, with 220 patients on treatment for MM, were included. Only two studies had a low risk of bias. Different wearable device brands were used for varying lengths of time and were worn on either the wrist, upper arm, or chest. Adherence, reported in seven studies, ranged from 50% to 90%. Six studies reported an adherence greater than 75%. Although physical activity was also measured in a heterogenous manner, most studies reported reduced physical activity during treatment, associated with a higher symptom burden. Conclusion: Monitoring patients receiving treatment for MM with a wearable device appears acceptable as an objective measure to evaluate physical activity. Due to the heterogeneity of the methods used, the generalisability of the results is limited. Future studies should explore the data collected prospectively and their ability to predict relevant clinical outcomes.

RESUMEN

Introduction: Immune effector cell-associated neurotoxicity syndrome (ICANS) is a common side-effect of chimeric antigen receptor T-cell (CAR-T) therapy, with symptoms ranging from mild to occasionally life-threatening. The neurological, cognitive, psychiatric and psychosocial sequelae of ICANS are diverse and not well defined, posing a challenge for diagnosis and management. The recovery trajectory of the syndrome is uncertain. Patients are rarely examined in this population pretherapy, adding a layer of complexity to specifying symptoms pertinent solely to CAR-T treatment. We present a protocol of a prospective longitudinal research study of adult patients in a single Australian haematology service undergoing CAR-T therapy. The study will describe neurocognitive features specific to ICANS, characterise the underlying syndrome, capture recovery, identify predictors of differential postinfusion outcomes and determine a set of cognitive instruments necessary to monitor patients acutely. Methods and analysis: This is a prospective longitudinal study that comprises neuropsychological and neurological examinations occurring prior to CAR-T, during the acute post-treatment period, 28 days, 6 months and 12 months post infusion. Data will be sourced from objective psychometric measures, clinical examinations, self-report questionnaires of psychopathology and accounts of subjective cognitive complaint. Ethics and dissemination: This study aims to guide diagnosis, management and monitoring of neurocognitive features of CAR-T cell therapy. Results of this study will be disseminated through publication in peer-reviewed journals and presentations at scientific conferences. All procedures involving human subjects/patients were approved by the Peter MacCallum Cancer Centre Human Research Ethics Committee (21/145).

RESUMEN

BACKGROUND: Haematological ('blood') cancers are a diverse group of non-solid cancers with varying incidence, mortality and survival. While there is some evidence that Maori experience disparities in blood cancer outcomes relative to New Zealand's majority European population, there is a need for a comprehensive overview of the current state of evidence in this context. METHODS: Blood cancer registrations were derived from the NZ Cancer Registry for the 2007-2019 period (combined blood cancers: 2653 Maori, 20,458 Europeans), and linked to Mortality records. We calculated age-sex-standardised incidence and mortality rates, and conducted cancer-specific survival analysis, for four main categories of blood cancers (leukaemia, Hodgkin lymphoma, non-Hodgkin lymphoma and myeloma) as well as for sub-types of leukaemia non-Hodgkin lymphoma. RESULTS: We found that Maori are more likely to be diagnosed with (incidence) and to die from (mortality) both leukaemia and myeloma, and similarly likely to be diagnosed or die from Hodgkin and non-Hodgkin lymphoma, compared to Europeans. Maori had demonstrably poorer cancer-specific survival outcomes across most blood cancer types (age-sex-adjusted hazard ratios [HRs], Maori vs European: leukaemia 1.77, 95 % CI 1.57-2.00; Hodgkin lymphoma 1.18, 95 % CI 0.65-2.16; non-Hodgkin lymphoma 1.71, 95 % CI 1.50-1.95; myeloma 1.40, 95 % CI 1.19-1.64). CONCLUSION: Blood cancers are a common cancer type for Maori, and we found evidence of disparities in incidence, mortality and survival compared to Europeans. Further research is required to further pinpoint exactly where interventions should be aimed to reduce blood cancer incidence and address survival disparities for Maori.

RESUMEN

Background: Anaemia is associated with reduced quality of life and increased mortality risk among people living with HIV (PLHIV). Although antiretroviral therapy (ART) reduces the prevalence of anaemia, some patients remain at risk after commencing ART. Objectives: We estimated the incidence of anaemia after ART commencement and identified associated risk factors. Method: We analysed outpatient records at Newlands Clinic, Harare, Zimbabwe. Patients (≥ 5 years old) who were commenced on ART between January 2016 and December 2020 were included and were followed up for up to 2 years. Patients with anaemia at ART commencement and women who were pregnant at any time during follow-up were excluded. Cox proportional hazards regression was used to assess independent risk factors for anaemia. Results: During the study, 1110 patients ≥ 5 years old were commenced on ART with a prevalence of anaemia of 40.0%. Five hundred and twenty-nine patients met the inclusion criteria and were followed up for 823.7 person-years. The median age was 36.1 years and 290 (58.4%) were female. The incidence rate of anaemia after ART commencement was 176.1 per 1000 person-years (95% confidence interval [CI]: 149.6-207.2). Females (aHR: 2.09; 95% CI: 1.46-3.00, P < 0.001), zidovudine use (aHR: 3.50 96% CI: 2.14-5.71, P < 0.001), age 5-12 years or > 50 years, and the presence of World Health Organization stage III/IV disease (aHR: 2.19; 95% CI: 1.14-5.71, P = 0.019) had higher odds of developing anaemia. Conclusion: The incidence of anaemia after ART commencement was high. Female sex, zidovudine use, age and the presence of stage III/IV disease were independent risk factors for anaemia. Clinicians should screen PLHIV on ART regularly for anaemia.

RESUMEN

Sarcoidosis is an inflammatory disease characterised by non-caseating granulomas that can affect any organ, although lung involvement is the most common. It is rare to find sarcoidosis isolated to extrapulmonary organs. We describe a case of extrapulmonary sarcoidosis with involvement of the liver in a man in his late 40s. His initial clinical history and investigations were more consistent with a diagnosis of lymphoma until a liver biopsy was performed revealing non-caseating granulomas more suggestive of a diagnosis of sarcoidosis. This patient had a history of young-onset ischaemic heart disease (IHD). We discuss the possible links between sarcoidosis, an inflammatory condition, and IHD, as well as the challenges to treating such patients with concurrent metabolic syndrome. This case also highlights the heterogeneous nature of sarcoidosis, with the diagnosis being important as prompt treatment can prevent complications of end-stage liver disease, including portal hypertension and cirrhosis.

Asunto(s)

RESUMEN

A middle-aged man had classical clinical and radiographical features of spontaneous intracranial hypotension, refractory to conservative management. His medical history included antiphospholipid syndrome, autoimmune thrombocytopenia and recurrent thrombotic events. To reduce his risk from epidural blood patching, we stopped his anticoagulation, but he developed thrombosis. Despite therapeutic challenges, we performed a fluoroscopically guided epidural blood patch successfully at multiple levels, with significant symptom and radiological improvement maintained at 9 months. We review the place of epidural blood patching in people with spontaneous intracranial hypotension who either take anticoagulants or have coexisting blood disorders.

RESUMEN

We present a case of a woman in her 20s with inadequately treated systemic lupus erythematosus (SLE). She presented with heavy menstrual bleeding, along with nasal and gum bleeding worsening over 3 months. There was no bleeding history in her family, childhood, dental procedures or childbirth. Evaluation ruled out structural causes, revealing prolonged activated partial thromboplastin time (incomplete correction on mixing studies), normal prothrombin time, moderate thrombocytopenia, and lupus anticoagulant and anti-phosphatidylserine/prothrombin antibody positivity twice, 12 weeks apart. Further evaluation showed very low von Willebrand factor (vWF) levels (<5%). She was treated with pulse methylprednisolone for 3 days, resulting in complete symptom resolution and improvement in vWF levels to 130%. The absence of bleeding history, family history, presence of very low vWF and its response to corticosteroids led to a diagnosis of acquired vWF syndrome as the cause of mucosal bleeding in an SLE patient with concomitant positive antiphospholipid antibody. She was discharged on hydroxychloroquine, mycophenolate mofetil and tapering oral corticosteroids.

Asunto(s)

RESUMEN

Iatrogenic acute limb ischaemia (ALI) in neonates is a rare but severe event with potentially deleterious outcomes. In the neonatal intensive care unit, this risk is increased due to the high rate of catheterisation procedures. ALI management includes pharmacological and non-pharmacological interventions, but no commonly accepted clinical guidelines are available. In the present case, a peripheral catheter was erroneously placed in the left brachial artery of a term infant, causing blockage and ischaemia in the limb. The catheter was immediately removed, the affected limb was elevated and warm compresses were applied to the contralateral limb. The patient was treated with fresh frozen plasma, heparin, iloprost and topical nitroglycerin. Three nerve block procedures were also performed. At 6-8 days of age, significant improvement was observed. The patient was discharged at 17 days of age with near-complete resolution, whereas complete resolution was observed at postdischarge follow-up.

Asunto(s)

RESUMEN

The alpha-thalassaemia alleles are very frequent in the world's population. The main molecular mechanism is a large deletion with the loss of one or two alpha genes. Another type of rarer abnormality exists: the gain of alpha genes. The consequence of a gain is an overproduction of alpha-globin chains, which aggravates a beta-thalassaemia trait into an intermedia phenotype (non-transfusion-dependent thalassaemia, NTDT). Here, we report the case of a young girl referred for a beta-NTDT with a combination never described in the literature: a heterozygous beta-thalassaemia mutation associated with a copy number gain of the alpha-globin locus and -alpha 3.7 deletion on the same allele.