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BACKGROUND: Continuous fluid infusions delivered between therapies by piggy-back systems avoid disconnection and reconnection of central venous catheters (CVCs), thereby reducing opportunities for line contamination. However, the impact of continuous versus intermittent infusions on central line-associated bloodstream infections (CLABSIs) is unknown. AIM: To investigate the effect of temporary infusion interruption and line disconnection, with or without use of a 70% isopropyl alcohol cap (IPA-C) on CLABSI rates in haematology patients. METHODS: Quasi-experimental study in two haemato-oncology units. At baseline (P1, September 2020 to August 2021), continuous intravenous piggy-back infusions were mandatory. In a first intervention phase (P2, September 2021 to August 2022), infusion disconnections were implemented with use of a 70% isopropyl alcohol cap (IPA-C) for passive decontamination. In a second intervention phase (P3, September 2022 to August 2023), infusion disconnections continued without the use of IPA-C. Rates of CLABSI were compared across the three intervention periods using segmented Poisson regression. FINDINGS: A total of 11,039 catheter-days across 764 CVCs and 16,226 patient-days were included. Twenty-one CLABSIs were recorded across all intervention periods. Compared with P1, incidence rate ratios (IRRs) for CLABSI did not significantly change in P2 (IRR 0.76 (95% CI 0.27-2.15)) and P3 (IRR 0.79 (95% CI 0.28-2.22)). No CVCs were removed due to occlusion during the study period. Five of 21 CLABSIs were polymicrobial, and coagulase-negative staphylococci were isolated in 19/21 cases (90%). CONCLUSION: Interruption of continuous infusions in haemato-oncology patients with a CVC was not associated with a substantial change in CLABSI rates, whether or not an IPA-C was used.
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Infecciones Relacionadas con Catéteres , Humanos , Infecciones Relacionadas con Catéteres/epidemiología , Infecciones Relacionadas con Catéteres/prevención & control , Infusiones Intravenosas , Femenino , Masculino , Persona de Mediana Edad , Neoplasias Hematológicas/complicaciones , Cateterismo Venoso Central/efectos adversos , Anciano , Catéteres Venosos Centrales/efectos adversos , Ensayos Clínicos Controlados no Aleatorios como Asunto , Sepsis/etiología , Sepsis/epidemiologíaRESUMEN
PURPOSE OF REVIEW: Lymphoma is the most frequent hematological malignancy with wide disease spectrum of watchful waiting period, active treatment, survivorship, and palliative care. All these steps impose unmet needs in terms of prevention, symptom alleviation, or prognosis. Complementary and integrative medicine (CIM) is widely used by patients with lymphoma to cope with such issues. Here, we describe the different CIM modalities that may be effective and safe for the management of patients with lymphoma. RECENT FINDINGS: Low inflammatory diet and ginseng seem effective for lymphoma prevention. Pain and neuropathy may be improved using acupuncture, touch therapy and specific dietary supplements. Nausea/vomiting, fatigue, and insomnia may be relieved by acupuncture, mind-body, touch therapy, and certain dietary supplements. Vitamin D, curcumin, and some traditional medicine herbs may positively impact lymphoma prognosis. Finally, safety issues should be considered especially for the concomitant use of dietary supplements and lymphoma-directed therapies. CIM may be beneficial along the continuum of lymphoma management although safety concerns should be considered when used concomitantly with conventional therapy.
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Terapia por Acupuntura , Terapias Complementarias , Medicina Integrativa , Linfoma , Humanos , Linfoma/terapia , Dieta , NáuseaRESUMEN
INTRODUCTION: The rapidly growing market for drugs, including oncology and haemato-oncology drugs, is generating enormous financial expenditure for healthcare systems. In Poland, access to high-cost treatments is possible mainly within drug programmes, funded by public healthcare systems. The path of proceeding adopted in Polish regulations is similar to the solutions adopted in other countries. OBJECTIVE: The aim of this study was to demonstrate the actual costs incurred by the treatment entity in the process of treating patients under the drug programme at the Regional Oncology Centre in Olsztyn, north-east Poland. MATERIAL AND METHODS: The oncology drug programme B.54 'Treatment of patients with refractory or malignant plasmocytic myeloma' implemented at the Regional Oncology Centre in Poland between 2018-2021, was selected for the analysis. The choice of the B.54 programme was based on the small population of patients meeting the inclusion criteria for this programme, and the large number of diagnostic procedures stipulated in the drug programme description. On average, 25 patients were treated per year. The financial analysis used the financial categories related to hospital billing information. The costs were presented based on the purchasing power parity of money in 2021, i.e. 1 USD-inter is equivalent to 1.837 PLN. RESULTS: The flat rate form of financing medical services does not cover the actual costs of treatment. Providing patients with necessary medical services without their full coverage by the public payer, burdens the budget of the centre and may lead to indebtedness of the treatment entity. CONCLUSIONS: Without an increase in the valuation of benefits under drug programmes, corresponding to the actual costs of treatment, the expected increase in access to innovative therapies will be difficult to accomplish.
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Mieloma Múltiple , Humanos , Polonia/epidemiología , Mieloma Múltiple/tratamiento farmacológico , Atención a la SaludRESUMEN
BACKGROUND: Arterial or venous thrombosis can complicate cancer, and 20% of cancer patients may develop venous thromboembolic disorders. Venous thromboembolism (VTE) is common in some haematologic malignancies and may coexist with thrombocytopenia in those haematologic malignancies. We carried out this survey to assess the knowledge and practice of haematologists and resident doctors in haematology in Nigeria regarding the management of thrombocytopenia and cancer-associated thrombosis. METHODS: This was a survey that was shared electronically with participants who were consultant haematologists and resident doctors in haematology in Nigeria.. RESULTS: There were 106 respondents, 70 (66%) of which were consultant haematologists. About a third (30.2%) of the respondents saw 6-10 patients with blood malignancies monthly. Fifty-seven (53.8%) of the respondents carried out risk assessment in their patients for cancer-associated thrombosis (CAT); 63 (59.4%) of the respondents saw 1-2 cancer patients with thrombosis in 3 months. The most common mode of treatment was pharmacological - 94 (88%) respondents used low molecular weight heparin. The most common haematologic malignancies associated with thrombocytopenia were acute leukaemias (69; 67%). The most common decision taken by respondents was to stop anticoagulants and transfuse platelets because the most frequent concern was the risk of bleeding in this group of patients. CONCLUSION: Many haematologists and haematology residents had a high level of awareness, knowledge and good practice regarding thrombocytopenia with CAT in haematooncology patients; however, there is a need for improved knowledge and unified protocols for treatment in line with newer management guidelines.
CONTEXTE: La thrombose artérielle ou veineuse peut compliquer le cancer, et 20 % des patients cancéreux peuvent présenter des troubles thromboemboliques veineux. La thromboembolie veineuse (TEV) est fréquente dans certaines hémopathies malignes et peut coexister avec une thrombocytopénie dans ces hémopathies malignes. Nous avons mené cette enquête pour évaluer les connaissances et la pratique des hématologues et des médecins résidents en hématologie au Nigeria concernant la gestion de la thrombocytopénie et de la thrombose associée au cancer. MÉTHODES: Il s'agit d'une enquête qui a été partagée électroniquement avec les participants qui sont des hématologues consultants et des médecins résidents en hématologie au Nigéria. RÉSULTATS: 106 personnes ont répondu à l'enquête, dont 70 (66%) étaient des hématologues consultants. Environ un tiers (30,2 %) des personnes interrogées voyaient chaque mois 6 à 10 patients atteints de tumeurs hématologiques malignes. Cinquante-sept (53,8 %) des personnes interrogées ont procédé à une évaluation du risque de thrombose associée au cancer chez leurs patients ; 63 (59,4 %) des personnes interrogées ont vu 1 à 2 patients cancéreux atteints de thrombose en 3 mois. Le mode de traitement le plus courant était pharmacologique - 94 (88%) des personnes interrogées utilisaient de l'héparine de faible poids moléculaire. Les hémopathies malignes les plus fréquemment associées à la thrombocytopénie étaient les leucémies aiguës (69 ; 67%). La décision la plus fréquente prise par les personnes interrogées était d'arrêter les anticoagulants et de transfuser des plaquettes parce que la préoccupation la plus fréquente était le risque de saignement dans ce groupe de patients. CONCLUSION: De nombreux hématologues et résidents en hématologie avaient un niveau élevé de sensibilisation, de connaissances et de bonnes pratiques concernant la thrombocytopénie avec CAT chez les patients hémato-oncologiques; cependant, il est nécessaire d'améliorer les connaissances et d'unifier les protocoles de traitement conformément aux nouvelles directives de prise en charge. Mots clés: Thrombose associée au cancer, Hémato-oncologie, Thrombocytopénie, Hemorragie, Thrombose.
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Neoplasias Hematológicas , Hematología , Neoplasias , Trombocitopenia , Trombosis , Humanos , Nigeria , Anticoagulantes/uso terapéutico , Trombosis/terapia , Trombosis/inducido químicamente , Neoplasias/complicaciones , Neoplasias/terapia , Trombocitopenia/terapia , Trombocitopenia/inducido químicamente , Encuestas y Cuestionarios , Neoplasias Hematológicas/complicaciones , Neoplasias Hematológicas/inducido químicamenteRESUMEN
Bone marrow transplant and haemato-oncology patients are at risk of healthcare-associated infections due to waterborne pathogens. We undertook a narrative review of waterborne outbreaks in haemato-oncology patients from 2000 to 2022. Databases searched included PubMed, DARE and CDSR, and were undertaken by two authors. We analysed the organisms implicated, sources identified and infection prevention and control strategies implemented. The most commonly implicated pathogens were Pseudomonas aeruginosa, non-tuberculous mycobacteria and Legionella pneumophila. Bloodstream infection was the most common clinical presentation. The majority of incidents employed multi-modal strategies to achieve control, addressing both the water source and routes of transmission. This review highlights the risk to haemato-oncology patients from waterborne pathogens and discusses future preventative strategies and the requirement for new UK guidance for haemato-oncology units.
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Infección Hospitalaria , Enfermedades Transmitidas por el Agua , Humanos , Enfermedades Transmitidas por el Agua/epidemiología , Infección Hospitalaria/epidemiología , Instituciones de Salud , Brotes de Enfermedades , Abastecimiento de Agua , Microbiología del AguaRESUMEN
BACKGROUND: There are no guidelines to screen haemato-oncologic children when a tuberculosis (TB) outbreak is suspected. METHODS: After exposition to an adult with active TB, children exposed from a haemato-oncology unit were screened according to immunosuppression status and time of exposure. Until an evaluation after 8-12 weeks from last exposure, isoniazid was indicated to those with negative initial work-up. RESULTS: After 210 interventions, we detected a case of pulmonary TB, and another with latent TB infection. Pulmonary findings and treatment approach were challenging in some patients. CONCLUSIONS: The TB screening of oncologic children required a multidisciplinary approach, and clinicians managed challenging situations.
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Tuberculosis Latente , Tuberculosis , Adulto , Antituberculosos/uso terapéutico , Niño , Humanos , Isoniazida , Tuberculosis Latente/diagnóstico , Prevalencia , Tuberculosis/diagnóstico , Tuberculosis/epidemiología , Tuberculosis/prevención & controlRESUMEN
Background: There are no guidelines to screen haemato-oncologic children when a tuberculosis (TB) outbreak is suspected. Methods: After exposition to an adult with active TB, children exposed from a haemato-oncology unit were screened according to immunosuppression status and time of exposure. Until an evaluation after 812 weeks from last exposure, isoniazid was indicated to those with negative initial work-up. Results: After 210 interventions, we detected a case of pulmonary TB, and another with latent TB infection. Pulmonary findings and treatment approach were challenging in some patients. Conclusions: The TB screening of oncologic children required a multidisciplinary approach, and clinicians managed challenging situations.(AU)
Antecedentes: No existen pautas para el cribado de niños hematooncológicos cuando se sospecha de un brote de tuberculosis (TB). Métodos: Después de la exposición a un adulto con TB activa, se evaluó a los niños expuestos de una unidad de hematooncología según el estado de inmunosupresión y el tiempo de exposición. Hasta una evaluación después de ocho a12 semanas desde la última exposición, se indicó isoniazida para aquellos con un proceso inicial negativo. Resultados: Tras 210 intervenciones se detectó un caso de tuberculosis pulmonar y otro con infección por TB latente. Los hallazgos pulmonares y el método de tratamiento fueron un desafío en algunos pacientes. Conclusiones: El cribado de TB en niños oncológicos requirió un método multidisciplinario y los médicos manejaron situaciones complejas.(AU)
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Humanos , Niño , Tuberculosis , Hematología , Oncología Médica , Pediatría , Tamizaje Masivo , Terapia de Inmunosupresión , Isoniazida , Tuberculosis Pulmonar , Microbiología , Enfermedades TransmisiblesRESUMEN
Background: Several factors can influence adherence to orally administered antineoplastics, including fear or anxiety resulting from situations such as the COVID-19 pandemic. The aim of this study was to analyse the influence of these patients' experiences on adherence to orally administered antineoplastics. Methods: Cross-sectional study in four hospitals including >18 year old cancer patients receiving orally administered antineoplastics during the first half of 2021. Data were collected from medical records and through telephone interviews. Adherence was assessed through the prescription refill records and pill counts. Patients' fear resulting from the pandemic was assessed by means of a structured questionnaire using a 5-point Likert-type scale. Results: Our sample compr BARCELONAised 268 patients (54% men) with a mean age of 64 years (SD 12). More than 15% had experienced afraid and 5% had experienced a dangerous situation when attending hospital, 17% felt they had received less care, and 30% preferred telepharmacy. Adherence measured by pill count was 69.3% and 95.5% according to prescription refill records. Patients who had experienced fear or anxiety when attending hospital were less adherent (aOR 0.47, 95% CI 0.23−0.96, p = 0.039). Conclusion: The fear experienced by some patients has affected adherence to treatment.
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BACKGROUND: Cupriavidus pauculus is rare cause of clinical infection. We describe an outbreak of C. pauculus and other Gram-negative bacteraemias in a paediatric haemato-oncology unit secondary to a contaminated water supply and drainage system. AIM: To describe the investigation and control measures implemented for a waterborne infection outbreak in a new build hospital. METHODS: Extensive water testing from various points within the water system was undertaken. Taps, showerheads and components including flow straighteners underwent microbiological analysis. Drains were also swabbed. Surveillance for Gram-negative infections was established on the unit. FINDINGS: Water testing revealed widespread contamination of the water and drainage system. Outlets were also heavily contaminated, including flow straighteners. Drains were found to have underlying structural abnormalities. Water testing enabled us to detect high-risk components within the water system such as the expansion vessels and outlets and the results assisted with hypotheses generation. Review of commissioning data and risk assessments revealed extensive risks present within the water system prior to and after hospital opening. CONCLUSION: Careful design, adequate control measures and maintenance are essential for hospital water systems in order to prevent infections due to waterborne organisms. We discuss what can be learned from this incident with a view to future prevention.
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Bacteriemia , Infección Hospitalaria/prevención & control , Brotes de Enfermedades , Hospitales , Microbiología del Agua , Abastecimiento de Agua , Bacteriemia/microbiología , Niño , Infección Hospitalaria/microbiología , Cupriavidus , Humanos , AguaRESUMEN
OBJECTIVES: To explore factors contributing to decisions to transfuse platelets in cancer care outside guidelines using case study methods. METHODS: Two case studies were examined, using instrumental case study methodology, to qualitatively explore factors that influence the decision to transfuse platelets. Interviews (n=10) were conducted around cases in haematology and critical care. In-depth review of documentary evidence was undertaken and propositions were developed to provide rigour during the investigation. Thematic analysis and triangulation of documents was undertaken to find specific factors, and propositions analysed, as per instrumental case study methods. RESULTS: Both cases emphasised how patient complexity, and individual response to platelet administration, was an influencing factor. Other themes included uncertainty of clinical situations coupled with uncertainty about platelet availability. Other factors worthy of further investigation include the concept of professional safety and the trustworthiness of platelet thresholds against platelet monitoring for bleeding episodes. CONCLUSION: The findings indicated several factors influence decisions to transfuse, including clinical context, and individual ability to trust guidelines and assume any perceived risks.
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Hematología , Neoplasias , Plaquetas , Cuidados Críticos , Humanos , Neoplasias/terapia , Transfusión de PlaquetasRESUMEN
BACKGROUND: There are no guidelines to screen haemato-oncologic children when a tuberculosis (TB) outbreak is suspected. METHODS: After exposition to an adult with active TB, children exposed from a haemato-oncology unit were screened according to immunosuppression status and time of exposure. Until an evaluation after 8-12 weeks from last exposure, isoniazid was indicated to those with negative initial work-up. RESULTS: After 210 interventions, we detected a case of pulmonary TB, and another with latent TB infection. Pulmonary findings and treatment approach were challenging in some patients. CONCLUSIONS: The TB screening of oncologic children required a multidisciplinary approach, and clinicians managed challenging situations.
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INTRODUCTION: Haemato-oncological patients often receive platelet count driven prophylactic platelet transfusions to prevent bleeding. However, many prophylactically transfused patients still bleed. More knowledge on risk factors for bleeding is therefore needed. This will enable identification of bleeding risk profiles on which future transfusion policy can be optimised. The present BITE study (Bleeding In Thrombocytopenia Explained) aims to identify clinical conditions and biomarkers that are associated with clinically relevant bleeding events. METHODS AND ANALYSIS: A matched case-control study nested in a cohort of haemato-oncological patients in the Netherlands. We collect a limited number of variables from all eligible patients, who together form the source population. These patients are followed for the occurrence of clinically relevant bleeding. Consenting patients of the source population form the cohort. Cases from the cohort are frequency matched to selected control patients for the nested case-control study. Of both case and control patients more detailed clinical data is collected. STUDY POPULATION: Adult haemato-oncological patients, who are admitted for intensive chemotherapeutic treatment or stem cell transplantation, or who received such treatments in the past and are readmitted for disease or treatment-related adverse events. STATISTICAL ANALYSIS: Bleeding incidences will be calculated for the total source population, as well as for different subgroups. The association between potential risk factors and the occurrence of bleeding will be analysed using conditional logistic regression, to account for matching of case and control patients. ETHICS AND DISSEMINATION: The study was approved by the Medical Research Ethics Committee Leiden Den Haag and Delft, and the Radboudumc Committee on Research Involving Human Subjects. Approval in seven other centres is foreseen. Patients will be asked for written informed consent and data is coded before analyses, according to Dutch privacy law. Results will be published in peer-reviewed journals. TRIAL REGISTRATION NUMBER: NL62499.058.17. NCT03505086; Pre-results.
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Hemorragia/etiología , Neoplasias/complicaciones , Neoplasias/terapia , Trombocitopenia/etiología , Adulto , Antineoplásicos/efectos adversos , Antineoplásicos/uso terapéutico , Estudios de Casos y Controles , Estudios de Cohortes , Estudios de Seguimiento , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Humanos , Readmisión del Paciente , Transfusión de Plaquetas , Factores de Riesgo , Trasplante de Células MadreRESUMEN
Respiratory point-of-care testing (POCT) for the detection of influenza A, influenza B and respiratory syncytial virus (RSV) was implemented in response to recent RSV outbreaks at a regional haemato-oncology unit in Glasgow. This descriptive study, undertaken pre- and post-POCT implementation, suggests that POCT reduces the time taken to receive results and increases diagnostic rates in outpatients. It is likely that the reduction in turnaround time afforded by POCT also leads to a faster time to antiviral treatment, prompt isolation and a reduction in the number of hospital-acquired infections.
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Implementación de Plan de Salud , Gripe Humana/diagnóstico , Pruebas en el Punto de Atención , Infecciones por Virus Sincitial Respiratorio/diagnóstico , Infecciones del Sistema Respiratorio/diagnóstico , Estudios de Cohortes , Hematología , Humanos , Virus de la Influenza A/genética , Virus de la Influenza B/genética , Técnicas de Diagnóstico Molecular/instrumentación , Servicio de Oncología en Hospital/estadística & datos numéricos , Pacientes Ambulatorios , Investigación Cualitativa , Virus Sincitial Respiratorio Humano/genética , Infecciones del Sistema Respiratorio/virologíaRESUMEN
In the Netherlands, the PREZIES surveillance is used for registration and surveillance of central venous catheter (CVC) -related bloodstream infections (CRBSI). We investigated how this Dutch definition correlated with internationally used definitions for CRBSI, central line-associated bloodstream infections (CLABSI) and mucosal barrier injury laboratory-confirmed bloodstream infections (MBI-LCBI). We determined that the Dutch PREZIES definition of CRBSI is appropriate for surveillance control of CVC care bundle use in haemato-oncology patients managed with multi-lumen CVCs.
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Infecciones Relacionadas con Catéteres/microbiología , Cateterismo Venoso Central/efectos adversos , Monitoreo Epidemiológico , Neoplasias Hematológicas/complicaciones , Sepsis/microbiología , Adulto , Anciano , Infecciones Relacionadas con Catéteres/etiología , Femenino , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Humanos , Masculino , Persona de Mediana Edad , Países Bajos , Estudios Retrospectivos , Sepsis/etiologíaRESUMEN
AIMS: The causes and diagnosis of 'double-negative' (CD3+CD4-CD8-) T-cell lymphocytosis are not well studied. We aimed to define the causes of double-negative T-cell lymphocytosis in children and adults, and to identify simple clinical and laboratory features that would help to differentiate between the underlying conditions. METHODS: We collected clinical and laboratory data on 10 children and 30 adults with significantly increased peripheral-blood double-negative T-cells (>10% of total lymphocytes). We identified conditions associated with double-negative T-lymphocytosis with flow cytometry, peripheral-blood morphology and T-cell receptor-gene rearrangement studies. Patients were assigned to diagnostic categories on the basis of these test results. RESULTS AND CONCLUSIONS: The causes of double-negative T-cell lymphocytosis in children were autoimmune lymphoproliferative syndrome (ALPS) and reactive γ/δ Τ-lymphocytosis. T-cell large granular lymphocyte (T-LGL) leukaemia, reactive γ/δ T-lymphocytosis and hepatosplenic T-cell lymphoma (HSTL) were the the most common disorders underlying double-negative T-cell lymphocytosis in adults. Less common causes included hypereosinophilic syndrome, peripheral T-cell lymphoma, ALPS and monoclonal, double-negative T-lymphocytosis of uncertain significance. CD5/CD7/Vδ2 expression and absolute double-negative lymphocyte count (<1.8×109/L) were useful discriminators for distinguishing patients with reactive γ/δ T-lymphocytosis from those with γ/δ lymphoproliferative disorders. Differentiating between γ/δ T-LGL and HSTL can be difficult. Expression of CD57 and cellular morphology (pale cytoplasm with distinct granules) would support a diagnosis of γ/δ T-LGL.
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Síndrome Linfoproliferativo Autoinmune/complicaciones , Leucemia Linfocítica Granular Grande/complicaciones , Linfocitosis/diagnóstico , Trastornos Linfoproliferativos/complicaciones , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Antígenos CD4/inmunología , Antígenos CD57/inmunología , Antígenos CD8/inmunología , Niño , Preescolar , Femenino , Grecia , Humanos , Recuento de Linfocitos , Linfocitosis/etiología , Linfocitosis/patología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Adulto JovenRESUMEN
An innovative programme to assist outpatients aims to improve the support provided to patients being treated for cancer in the context of their community-hospital care pathway. Evaluated in haematology with patients receiving treatment for lymphoma, leukaemia, including allografts, the programme highlights new nursing roles at the heart of patient follow-up care. The safety and fluidity of the patient pathway is improved and the medical time optimised.
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Atención Ambulatoria , Oncología Médica , Neoplasias , Cuidados Posteriores , Humanos , Neoplasias/enfermería , Rol de la Enfermera , Enfermería OncológicaRESUMEN
Introduction. Evidence for the clinical utility of bronchoalveolar lavage (BAL) galactomannan in the management of fungal disease outside of haemato-oncology patients is limited.Aim. To determine how the introduction of BAL galactomannan testing impacted on the diagnosis and management of invasive aspergillosis and other fungal diseases in non-haemato-oncology patients.Methodology. Retrospective review of all adult patients (age ≥16 years) without a diagnosis of haematological malignancy who had a positive BAL galactomannan from 1 November 2014 to 30 April 2018. Using electronic patient records we obtained demographic data, clinical details, laboratory investigations, relevant radiology and antimicrobial history for each case.Results. In total, 121 episodes with a galactomannan OD index of ≥0.500 were included in the study; 29 cases (24â%) were felt to reflect fungal disease. Antifungal therapy was commenced as a direct consequence of a positive BAL galactomannan result in 13 patients where the ultimate diagnosis was subsequently considered to be non-mycological: associated medication-related side-effects in this group included deranged liver function tests (n=3), rash (n=1) and fever (n=1), related to amphotericin B (n=1) and voriconazole (n=4).Conclusion. We show that vigilance is required when interpreting galactomannan results in non-haematology patients to avoid potentially harmful overtreatment.
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Antifúngicos/uso terapéutico , Líquido del Lavado Bronquioalveolar/química , Mananos/análisis , Uso Excesivo de los Servicios de Salud , Micosis/diagnóstico , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Antifúngicos/efectos adversos , Femenino , Galactosa/análogos & derivados , Humanos , Masculino , Persona de Mediana Edad , Micosis/tratamiento farmacológico , Estudios Retrospectivos , Adulto JovenRESUMEN
Cornelia de Lange syndrome (CdLS) is a rare autosomal-dominant genetic disorder characterised by prenatal and postnatal growth and mental retardation, facial dysmorphism and upper limb abnormalities. Germline mutations of cohesin complex genes SMC1A, SMC3, RAD21 or their regulators NIPBL and HDAC8 have been identified in CdLS as well as somatic mutations in myeloid disorders. We describe the first case of a paediatric patient with CdLS with B-cell precursor Acute Lymphoblastic Leukaemia (ALL). The patient did not show any unusual cytogenetic abnormality, and he was enrolled into the high risk arm of AIEOP-BFM ALL2009 protocol because of slow early response, but 3 years after discontinuation, he experienced an ALL relapse. We identified a heterozygous mutation in exon 46 of NIPBL, causing frameshift and a premature stop codon (RNA-Targeted Next generation Sequencing Analysis). The analysis of the family indicated a de novo origin of this previously not reported deleterious variant. As for somatic cohesin mutations in acute myeloid leukaemia, also this ALL case was not affected by aneuploidy, thus suggesting a major impact of the non-canonical role of NIPBL in gene regulation. A potential biological role of NIPBL in leukaemia has still to be dissected.
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Síndrome de Cornelia de Lange/genética , Mutación , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Proteínas/genética , Proteínas de Ciclo Celular , Preescolar , Análisis Mutacional de ADN , Síndrome de Cornelia de Lange/diagnóstico , Femenino , Predisposición Genética a la Enfermedad , Herencia , Humanos , Masculino , Linaje , Fenotipo , Leucemia-Linfoma Linfoblástico de Células Precursoras B/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras B/terapia , RecurrenciaRESUMEN
BACKGROUND: The impact of haemodialysis (HD) and kidney transplantation on quality of life (QoL) is often underestimated due to a lack of comparative studies with other patient groups. METHODS: We conducted a cross-sectional cohort study in 168 patients including HD patients, kidney transplant recipients (KTR), patients with a haematological malignancy either receiving chemotherapy or in remission and healthy controls. All participants completed the 36-item short form survey of health-related quality of life, the Checklist Individual Strength and the Hospital Anxiety and Depression Scale questionnaire. RESULTS: HD patients and haematological patients undergoing chemotherapy were more frequently severely fatigued (53.3% and 50% of cases) compared with KTR (33.3%), haematological patients in remission (23.3%) and healthy controls (12.1%, P < 0.001). There were no significant differences in anxiety rates. HD patients and haematological patients undergoing chemotherapy were most likely to be depressed (33.3% and 25%), compared with 16.7% of KTR, 20% of haematological patients in remission and 8.6% of healthy controls (P = 0.066). KTR reported the largest positive health change (+27%, P < 0.001), but still had a lower overall QoL than healthy controls, comparable to haematological patients in remission. HD and chemotherapy patients reported the lowest QoL scores. CONCLUSIONS: Fatigue and depression are common in HD patients, resulting in a low QoL, comparable to haematological patients receiving chemotherapy. KTR do better, with scores similar to patients with a haematological malignancy in remission, but still have a lower QoL than healthy controls.