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1.
Front Psychol ; 15: 1427169, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39295758

RESUMEN

The Sense of Agency (SoA) refers to the individual's perception of control over actions and their subsequent impact on the external environment. SoA encompasses multiple dimensions, such as implicit/local and explicit/general, which can be quantitatively assessed through cognitive tasks and psychometric questionnaires, respectively. The explicit and general aspect of SoA is commonly evaluated using the Sense of Agency Scale (SoAS). This study's objective is to adapt and validate a Japanese version of the Tapal-SoAS. To achieve this, we distributed an online survey in three stages, gathering data from 8,237 Japanese participants aged between their 20s and 60s. Our analysis confirmed the bifactorial structure identified in the original study: the Sense of Positive Agency (SoPA) and the Sense of Negative Agency (SoNA). Metrics pertaining to test-retest reliability, internal consistency, and construct validity reached satisfactory thresholds. Furthermore, the two-factor models demonstrated suitable fit across various age cohorts. The Japanese version of the SoAS (J-SoAS) shows potential for cross-cultural comparisons of explicit and general SoA, particularly between Western and Eastern populations, and among distinct age groups, including young adults and the elderly.

2.
Int J Hematol ; 2024 Aug 22.
Artículo en Inglés | MEDLINE | ID: mdl-39174699

RESUMEN

Nucleophosmin 1 (NPM1) mutation is one of the most prevalent genetic mutations in adult acute myeloid leukemia (AML) and is particularly predominant in AML with a normal karyotype. NPM1 is a chaperone protein that plays various roles in several cellular processes. Wild-type NPM1 is normally localized to the nucleus, whereas mutant NPM1 proteins exhibit altered cytoplasmic localization. Clinically, AML with mutated NPM1 without FLT3-ITD is associated with a higher complete remission rate and improved overall survival. AML with mutated NPM1 is categorized as a distinct genetic entity in the World Health Organization classification of hematopoietic malignancies due to its unique clinical and biological features. However, the precise roles of NPM1 in normal hematopoiesis and in AML development remain unclear. Recent studies have revealed various clinical applications of NPM1 mutations in AML treatment, particularly in measurable residual disease analyses that target mutant NPM1 transcripts and in potential therapeutic applications of menin inhibitors and XPO-1 inhibitors for AML with mutated NPM1. Thus, NPM1 mutation is highly significant in AML classification, prognosis, response assessment, and molecular targeted therapies. Here, we review recent progress in clinical and biological aspects of AML with mutated NPM1 including molecular targeted therapy.

3.
Gan To Kagaku Ryoho ; 51(8): 837-840, 2024 Aug.
Artículo en Japonés | MEDLINE | ID: mdl-39191716

RESUMEN

We experienced a case of resection of a pancreatic body bearing a serotonin-producing pancreatic neuroendocrine neoplasm( PanNEN). The patient was a female in her 70s. Contrast-enhanced CT of the pancreatic body showed a 12 mm tumor that was well enhanced in the early, portal, and equilibrium phases. The main pancreatic duct was stenosed at the tumor position, and the distal side was dilated. Although the contrast pattern was indicative of PanNEN, the stenosis of the main pancreatic duct suggested the possibility of invasive pancreatic ductal carcinoma. A serotonin-producing subtype of PanNEN, which causes stenosis of the main pancreatic duct despite its small diameter, was included in the differential diagnoses. We performed resection of the pancreatic body and tail with lymph node dissection. Pathological examination indicated that the tumor was PanNEN G1, and immunostaining revealed positivity for serotonin. Most PanNENs are not accompanied by stenosis of the main pancreatic duct. However, it has been reported that even a small-sized serotonin-producing PanNEN is likely to cause main pancreatic duct stenosis owing to its proliferation pattern. Although there are few reports of serotonin-producing PanNENs, an understanding of the characteristic imaging findings of this disease may be useful in the differential diagnosis of pancreatic tumors.


Asunto(s)
Tumores Neuroendocrinos , Neoplasias Pancreáticas , Serotonina , Humanos , Neoplasias Pancreáticas/cirugía , Neoplasias Pancreáticas/patología , Femenino , Serotonina/metabolismo , Tumores Neuroendocrinos/cirugía , Tumores Neuroendocrinos/diagnóstico , Anciano , Tomografía Computarizada por Rayos X , Pancreatectomía
4.
Artículo en Inglés | MEDLINE | ID: mdl-39099215

RESUMEN

OBJECTIVE: Few studies have explored whether the involvement of patients in shared decision-making (SDM) is beneficial to the management of systemic lupus erythematosus (SLE). Therefore, this study investigated the relationship between patient participation in SDM and their trust in physicians using data from the Trust Measurement in Physicians and Patients With SLE (TRUMP2-SLE) study. METHODS: Data regarding the nine-item Japanese version of the Shared Decision-Making Questionnaire (SDM-Q-9) scores, Trust in Physician Scale (TIPS) scores, and Abbreviated Wake Forest Physician Trust Scale (A-WFPTS) scores for interpersonal trust in a physician and trust in the medical profession were collected from patients with SLE who visited the outpatient clinics of five facilities in Japan through a self-administered questionnaire. The relationships among these scores were analyzed by general linear models with cluster-robust variance. RESULTS: This study included 433 patients with SLE. The median baseline TIPS and A-WFPTS (attending physician version) scores were 82 (73-93) and 80 (70-95), respectively. A higher baseline SDM-Q-9 score was correlated with an increase in the TIPS score at one year (coefficient per 10-point [pt] increase, 0.94 pts, 95% confidence interval [CI] 0.16-1.72). A higher baseline SDM-Q-9 score was correlated with a higher A-WFPTS score for interpersonal trust (coefficient per 10-pt increase, 2.20 pts, 95% CI 1.44-2.96). The baseline SDM-Q-9 score was also correlated with an increase in the general physician version of the A-WFPTS score at one year (coefficient per 10-pt increase, 1.29 pts, 95% CI 0.41-2.18). CONCLUSION: Engagement of patients with SLE in SDM elevates their trust in the attending physicians and health care providers, potentially enhancing doctor-patient relationships and overall health care trust.

5.
Rinsho Ketsueki ; 65(7): 684-692, 2024.
Artículo en Japonés | MEDLINE | ID: mdl-39098020

RESUMEN

FLT3 mutation is one of the most frequent genetic mutations in AML, identified in approximately 30% of patients, and FLT3-ITD mutation is considered a poor prognostic factor. Based on these molecular and clinical backgrounds, FLT3 mutations are considered promising therapeutic targets in AML, and intensive development of targeted therapeutics has been ongoing for more than two decades. Recently, combination of FLT3 inhibitors with intensive chemotherapy for untreated AML patients with FLT3 mutations and FLT3 inhibitor monotherapy for relapsed/refractory patients have been approved. In Japan, the combination of quizartinib and intensive chemotherapy for untreated FLT3-ITD-positive AML was approved in 2023. Clinical use of FLT3 inhibitors shows strong promise for improving the clinical outcomes of these AML patients with an extremely poor prognosis. Meanwhile, various resistance mechanisms to FLT3 inhibitors have been identified, including the emergence of resistance-associated mutations, and attenuated inhibitory effects of FLT3 inhibitors involving the bone marrow microenvironment surrounding AML cells. Thus, future efforts should aim to optimize combination therapy based on the characteristics of each FLT3 inhibitor, develop biomarkers that could inform treatment selection, and to better understand these resistance mechanisms and develop methods for overcoming them.


Asunto(s)
Leucemia Mieloide Aguda , Mutación , Inhibidores de Proteínas Quinasas , Tirosina Quinasa 3 Similar a fms , Tirosina Quinasa 3 Similar a fms/antagonistas & inhibidores , Tirosina Quinasa 3 Similar a fms/genética , Humanos , Leucemia Mieloide Aguda/tratamiento farmacológico , Leucemia Mieloide Aguda/genética , Inhibidores de Proteínas Quinasas/uso terapéutico , Inhibidores de Proteínas Quinasas/farmacología , Resistencia a Antineoplásicos
6.
Nagoya J Med Sci ; 86(2): 326-332, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38962422

RESUMEN

We previously reported the Marimo cell line, which was established from the bone marrow cells of a patient with essential thrombocythemia (ET) at the last stage after transformation to acute myeloid leukemia (AML). This cell line is widely used for the biological analysis of ET because it harbors CALR mutation. However, genetic processes during disease progression in the original patient were not analyzed. We sequentially analyzed the genetic status in the original patient samples during disease progression. The ET clone had already acquired CALR and MPL mutations, and TP53 and NRAS mutations affected the disease progression from ET to AML in this patient. Particularly, the variant allele frequency of the NRAS mutation increased along with the disease progression after transformation, and the NRAS-mutated clone selectively proliferated in vitro, resulting in the establishment of the Marimo cell line. Although CALR and MPL mutations co-existed, MPL was not expressed in Marimo cells or any clinical samples. Furthermore, mitogen-activated protein kinase (MAPK) but not the JAK2-STAT pathway was activated. These results collectively indicate that MAPK activation is mainly associated with the proliferation ability of Marimo cells.


Asunto(s)
Calreticulina , Evolución Clonal , Leucemia Mieloide Aguda , Mutación , Receptores de Trombopoyetina , Trombocitemia Esencial , Humanos , Trombocitemia Esencial/genética , Trombocitemia Esencial/patología , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/patología , Calreticulina/genética , Calreticulina/metabolismo , Receptores de Trombopoyetina/genética , Evolución Clonal/genética , Janus Quinasa 2/genética , Janus Quinasa 2/metabolismo , Proteínas de la Membrana/genética , Proteínas de la Membrana/metabolismo , GTP Fosfohidrolasas/genética , Proteína p53 Supresora de Tumor/genética , Proteína p53 Supresora de Tumor/metabolismo , Masculino , Progresión de la Enfermedad , Femenino , Línea Celular Tumoral , Anciano , Persona de Mediana Edad
7.
Sci Rep ; 14(1): 15906, 2024 07 10.
Artículo en Inglés | MEDLINE | ID: mdl-38987297

RESUMEN

Most of essential thrombocythemia (ET) patients have the clone harboring a mutation in one of the JAK2, CALR, or MPL gene, and these clones generally acquire additional mutations at transformation to acute myeloid leukemia (AML). However, the proliferation of triple-negative clones has sometimes been observed at AML transformation. To clarify the clonal evolution of ET to AML, we analyzed paired samples at ET and AML transformation in eight patients. We identified that JAK2-unmutated AML clones proliferated at AML transformation in three patients in whom the JAK2-mutated clone was dominant at ET. In two patients, TET2-mutated, but not JAK2-mutated, clones might be common initiating clones for ET and transformed AML. In a patient with JAK2-mutated ET, SMARCC2, UBR4, and ZNF143, but not JAK2, -mutated clones proliferated at AML transformation. Precise analysis using single-cell sorted CD34+/CD38- fractions suggested that ET clone with JAK2-mutated and AML clone with TP53 mutation was derived from the common clone with these mutations. Although further study is required to clarify the biological significance of SMARCC2, UBR4, and ZNF143 mutations during disease progression of ET and AML transformation, the present results demonstrate the possibility of a common initial clone involved in both ET and transformed AML.


Asunto(s)
Janus Quinasa 2 , Leucemia Mieloide Aguda , Mutación , Trombocitemia Esencial , Humanos , Trombocitemia Esencial/genética , Trombocitemia Esencial/complicaciones , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/patología , Masculino , Femenino , Janus Quinasa 2/genética , Persona de Mediana Edad , Anciano , Adulto , Anciano de 80 o más Años , Transformación Celular Neoplásica/genética , Dioxigenasas , Evolución Clonal/genética , Proteínas de Unión al ADN
9.
Front Pediatr ; 12: 1374448, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38586155

RESUMEN

Acute generalized exanthematous pustulosis (AGEP) is an uncommon eruption characterized by sterile pustules on an erythematous background, which is usually associated with drugs. AGEP is described as a self-limiting disease with favorable prognosis. We reported a case of Kawasaki Disease (KD) following AGEP. A 3-year-old male, who was admitted with pustules and five days of fever at our hospital, was diagnosed with AGEP. Despite the skin lesions and fever improving drastically after prednisolone therapy, the fever recurred on hospitalization day 5. The following symptoms suggestive of KD also appeared: bulbar conjunctival hyperemia, cervical lymphadenopathy, erythema of the lips, eruption on his trunk, and erythema and edema of the hands and feet. He was diagnosed with KD and treated with intravenous immunoglobulin. He was discharged on the thirteenth day of hospitalization without cardiac complications. Drug-induced lymphocyte stimulation test revealed carbocysteine as the suspected cause of AGEP, which consequently triggered KD. Because a mucosal lesion is uncommon in AGEP, bulbar conjunctival hyperemia suggested that KD sequentially occurred after AGEP. Since AGEP is benign and self-limited in most cases, it is necessary to differentiate other diseases, including KD, when recurrent fever or rash occurs in the course of AGEP.

10.
Cardiol Young ; : 1-3, 2024 Apr 12.
Artículo en Inglés | MEDLINE | ID: mdl-38604751

RESUMEN

Cardiovascular magnetic resonance T1 and T2 mapping reflects inflammation, fibrosis, and myocardial oedema. However, its application in infants remains uncertain. Herein, we report a three-month-old boy with dilated cardiomyopathy successfully treated with steroids. Cardiovascular magnetic resonance was useful for diagnosis based on the elevated native T1, T2, and extracellular volume and evaluation of response to immunosuppressive therapy in infantile inflammatory dilated cardiomyopathy.

11.
Am J Hematol ; 99(5): 806-815, 2024 05.
Artículo en Inglés | MEDLINE | ID: mdl-38314662

RESUMEN

This study aimed to investigate the usefulness of allogeneic stem cell transplantation (allo-SCT) for Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ALL) in the first complete remission (CR1) with complete molecular remission (CMR). We compared the outcomes between Ph+ALL patients who did or did not undergo allo-SCT in CR1. We included patients enrolled in the prospective clinical studies in the tyrosine kinase inhibitor era conducted by the Japan Adult Leukemia Study Group, who achieved CMR within 3 months. A total of 147 patients (allo-SCT: 101; non-SCT: 46) were eligible for this analysis. In the multivariate analyses, allo-SCT was significantly associated with both superior overall survival (OS) (adjusted hazard ratio (aHR): 0.54; 95% CI: 0.30-0.97; p = .04) and relapse-free survival (RFS) (aHR: 0.21; 95% CI: 0.12-0.38; p < .001). The 5-year adjusted OS and RFS were 73% and 70% in the allo-SCT cohort, whereas they were 50% and 20% in the non-SCT cohort. Despite the higher non-relapse mortality (aHR: 3.49; 95% CI: 1.17-10.4; p = .03), allo-SCT was significantly associated with a lower relapse rate (aHR: 0.10; 95% CI: 0.05-0.20; p < .001). In addition, allo-SCT was also associated with superior graft-versus-host disease-free, relapse-free survival (aHR: 0.43; 95% CI: 0.25-0.74; p = .002). Propensity score-matched analyses confirmed the results of the multivariate analyses. In patients who achieved CMR within 3 months, allo-SCT in CR1 had superior survival and lower relapse compared with the non-SCT cohort.


Asunto(s)
Trasplante de Células Madre Hematopoyéticas , Leucemia-Linfoma Linfoblástico de Células Precursoras , Adulto , Humanos , Estudios Prospectivos , Trasplante Homólogo , Trasplante de Células Madre Hematopoyéticas/métodos , Trasplante de Células Madre/métodos , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Recurrencia , Respuesta Patológica Completa , Estudios Retrospectivos
12.
Diagn Pathol ; 19(1): 27, 2024 Feb 07.
Artículo en Inglés | MEDLINE | ID: mdl-38326851

RESUMEN

INTRODUCTION: NUT carcinoma is a rare cancer associated with a poor prognosis. Because of its rarity, its diagnosis is challenging and is usually made by excluding other diagnoses. Immunohistochemical analysis is a reliable technique that contributes to a correct diagnosis, but overestimating the expression of neuroendocrine (NE) markers may result in an incorrect diagnosis. In this study, we established the immunohistochemical phenotypes of NUT carcinoma compared with tumors that mimic its phenotype to identify potential diagnostic pitfalls. METHODS: Eight cases of NUT carcinoma were examined along with eight basaloid squamous cell carcinomas and thirteen cases of small cell carcinoma using an immunohistochemical panel consisting of various antibodies. RESULTS: Of the eight NUT carcinomas, three patients had a smoking history. All the cases examined for INSM1 were positive (6/6, 100%), although the staining was somewhat weak. Among the NE markers, synaptophysin was variably positive in two NUT carcinomas (2/6, 33%); however, all cases were negative for ASCL1, chromogranin A, and CD56. Moreover, the squamous cell markers, p40 and CK5/6, were weakly expressed in 4/6 (67%) and 3/6 (50%) of the NUT carcinomas, respectively. CONCLUSIONS: For tumors with an ambiguous morphology, applying the neuroendocrine phenotype of NUT carcinoma may be misleading; particularly, when distinguishing it from small-cell carcinoma. Similarly, null or weak expression of squamous cell markers may be observed in NUT carcinoma, but this differs from squamous cell carcinoma, which consistently demonstrates strong positivity for squamous cell markers.


Asunto(s)
Carcinoma Neuroendocrino , Carcinoma de Células Escamosas , Neoplasias Pulmonares , Carcinoma Pulmonar de Células Pequeñas , Humanos , Biomarcadores de Tumor/análisis , Sinaptofisina/análisis , Carcinoma de Células Escamosas/patología , Neoplasias Pulmonares/patología , Células Epiteliales/patología , Fenotipo , Carcinoma Neuroendocrino/patología , Proteínas Represoras/análisis
14.
Ann Rheum Dis ; 83(1): 103-111, 2024 Jan 02.
Artículo en Inglés | MEDLINE | ID: mdl-37726117

RESUMEN

OBJECTIVES: Life-threatening antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) with rapidly progressive glomerulonephritis (RPGN) and/or alveolar haemorrhage (AH) has a poor prognosis. Rituximab (RTX) is as effective as cyclophosphamide (CY) in remission induction therapy; however, the effectiveness and safety of RTX have not been established in life-threatening AAV. This study aimed to investigate the short-term effectiveness and safety of RTX in life-threatening AAV with RPGN and/or AH. METHODS: Between April 2018 and March 2020, cases treated with systemic glucocorticoids and RTX or intravenous CY (IVCY) was extracted from a Japanese nationwide inpatient database. Effectiveness was evaluated by in-hospital mortality and severe renal dysfunction requiring haemodialysis (HD) at discharge. Safety was evaluated by the in-hospital incidence of infections. The propensity score (PS) for RTX was estimated. Multivariable Cox and logistic regression with adjustment for PS were conducted to estimate the association of RTX with outcomes. RESULTS: From 16 001 612 hospitalised records, 687 life-threatening AAV cases were extracted. No significant difference in in-hospital mortality (adjusted HR 1.06; 95% CI 0.62 to 1.80) was found between the groups. Although the RTX group had a lower risk of fungal infections (adjusted OR (aOR) 0.45; 95% CI 0.23 to 0.84) and pneumocystis pneumonia (aOR 0.58; 95% CI 0.32 to 1.00), they might have an increased risk of severe renal dysfunction requiring HD at discharge (aOR 2.58; 95% CI 1.02 to 6.91). CONCLUSIONS: In life-threatening AAV, RTX has similar short-term effectiveness on mortality to IVCY. Although RTX might have a lower risk of fungal infections and pneumocystis pneumonia, the short-term renal prognosis might be inferior to IVCY.


Asunto(s)
Vasculitis Asociada a Anticuerpos Citoplasmáticos Antineutrófilos , Enfermedades Renales , Neumonía por Pneumocystis , Humanos , Rituximab/efectos adversos , Neumonía por Pneumocystis/inducido químicamente , Puntaje de Propensión , Resultado del Tratamiento , Ciclofosfamida/efectos adversos , Vasculitis Asociada a Anticuerpos Citoplasmáticos Antineutrófilos/tratamiento farmacológico , Inducción de Remisión
15.
Pediatr Cardiol ; 45(1): 150-155, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37870602

RESUMEN

Postoperative chylothorax in patients with congenital heart diseases (CHD) results in poor outcomes if anatomical and functional abnormalities of the lymphatic system are present. While these abnormalities are typically diagnosed by intranodal lymphangiography and dynamic contrast magnetic resonance lymphangiography, the usefulness of lymphoscintigraphy in these patients has not been evaluated. Between January 2019 and December 2021, 28 lymphoscintigraphies were performed in our institution for investigating prolonged pleural effusion after cardiac surgery. The images were assessed by three board-certified pediatric cardiologists retrospectively to determine the likelihood of a central lymphatic flow disorder. The likelihood was scored (range 1-3) based on structural abnormalities and congestive flow in the lymphatic system. Those scores were summed and the likelihood was categorized as low to intermediate (< 8 points) or high (8 or 9 points). Median age at lymphoscintigraphy was 129 days (IQR, 41-412 days), it was performed at a median of 22 days (IQR, 17-43) after surgery, and median score was 6 points (IQR, 4-7.5). Kendall's coefficient of concordance (0.867; p < 0.05) indicated high inter-rater reliability. Overall survival at 6 months after surgery was 92.5% in the low-to-intermediate group but 68.6% in the high group (p < 0.05), and duration of postoperative thoracic drainage was 27 and 58 days, respectively (p < 0.05). Lymphatic abnormalities detected by lymphoscintigraphy were associated with poorer outcomes. Lymphoscintigraphy was thought to be useful in assessing anatomic and functional lymphatic abnormalities, despite its minimal invasiveness.


Asunto(s)
Procedimientos Quirúrgicos Cardíacos , Quilotórax , Anomalías Linfáticas , Niño , Humanos , Quilotórax/diagnóstico por imagen , Quilotórax/etiología , Linfocintigrafia , Estudios Retrospectivos , Reproducibilidad de los Resultados , Procedimientos Quirúrgicos Cardíacos/efectos adversos , Linfografía/métodos
16.
J Rheumatol ; 51(2): 168-175, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-37914212

RESUMEN

OBJECTIVE: Differences in communication styles based on physicians' personality traits have been identified, particularly in primary care, and these physician-related factors can be important in building patient-physician trust. This study examined the effects of rheumatologists' personality traits on patients' trust in their attending rheumatologists. METHODS: This cross-sectional study included adult Japanese patients with systemic lupus erythematosus (SLE) at 5 academic medical centers between June 2020 and August 2021. The exposures were the Big 5 personality traits (ie, extraversion, agreeableness, openness, conscientiousness, and emotional stability) of attending rheumatologists using the Japanese version of the 10-Item Personality Inventory scale (1-7 points each). The outcome was the patients' trust in their attending rheumatologist using the Japanese version of the 5-item Wake Forest Physician Trust Scale (0-100 points). A general linear model was fitted. RESULTS: The study included 505 patients with a mean age of 46.8 years; 88.1% were women. Forty-three attending rheumatologists (mean age: 39.6 years; 23.3% female) were identified. After multivariable adjustment, higher extraversion and agreeableness were associated with higher trust (per 1-point increase, 3.76 points [95% CI 1.07-6.45] and 4.49 points [95% CI 1.74-7.24], respectively), and higher conscientiousness was associated with lower trust (per 1-point increase, -2.17 points [95% CI -3.31 to -1.03]). CONCLUSION: Whereas higher extraversion and agreeableness of attending rheumatologists led to higher patient trust in their rheumatologist, overly high conscientiousness may lead to lower trust resulting from the physicians' demand of responsibility and adherence to instructions from patients with SLE.


Asunto(s)
Lupus Eritematoso Sistémico , Reumatólogos , Adulto , Humanos , Femenino , Persona de Mediana Edad , Masculino , Confianza , Estudios Transversales , Personalidad
17.
Jpn J Clin Oncol ; 54(2): 153-159, 2024 Feb 07.
Artículo en Inglés | MEDLINE | ID: mdl-37986553

RESUMEN

OBJECTIVE: Minimal residual disease assessment of BCR-ABL messenger ribonucleic acid levels is crucial in Philadelphia chromosome-positive acute lymphoblastic leukemia for prognosis and treatment planning. However, accurately quantifying minor BCR-ABL transcripts, which comprise 70% of Philadelphia chromosome-positive acute lymphoblastic leukemia cases, lacks a national-approved method. METHODS: We developed the "Otsuka" minor BCR-ABLmessenger ribonucleic acid assay kit with exceptional precision (0.00151%). Minor BCR-ABL messenger ribonucleic acid levels were analyzed in 175 adults, 36 children with acute lymphoblastic leukemia and 25 healthy individuals to evaluate the kit's performance. RESULTS: The "Otsuka" kit showed high concordance with a commonly used chimeric gene screening method, indicating reliable detection of positive cases. Quantitative results demonstrated a robust correlation with both a laboratory-developed test and a diagnostic research product. The "Otsuka" kit performs comparably or even surpass to conventional products, providing valuable insights into Philadelphia chromosome-positive acute lymphoblastic leukemia pathology. CONCLUSIONS: The 'Otsuka" minor BCR-ABL messenger ribonucleic acid assay kit exhibits excellent performance in quantifying minor BCR-ABL transcripts in Philadelphia chromosome-positive acute lymphoblastic leukemia patients. Our results align well with established screening methods and show a strong correlation with laboratory-developed tests and diagnostic research products. The "Otsuka" kit holds great promise as a valuable tool for understanding Philadelphia chromosome-positive acute lymphoblastic leukemia pathology and guiding effective treatment strategies.


Asunto(s)
Cromosoma Filadelfia , Leucemia-Linfoma Linfoblástico de Células Precursoras , Adulto , Niño , Humanos , Proteínas de Fusión bcr-abl/análisis , Proteínas de Fusión bcr-abl/genética , Reacción en Cadena en Tiempo Real de la Polimerasa , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , ARN
18.
Int J Hematol ; 119(2): 130-145, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38091231

RESUMEN

We conducted a multicenter, prospective observational study of acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), and chronic myelomonocytic leukemia (CMML) in Japan. From August 2011 to January 2016, we enrolled 6568 patients. Herein, we report the results for MDS (n = 2747) and CMML (n = 182). The percentage of patients aged 65 years or older was 79.5% for MDS and 79.7% for CMML. The estimated overall survival (OS) rate and cumulative incidence of AML evolution at 5 years were 32.3% (95% confidence interval: 30.2-34.5%) and 25.7% (23.9-27.6%) for MDS, and 15.0% (8.9-22.7%) and 39.4% (31.1-47.6%) for CMML. Both diseases were more common in men. The most common treatment for MDS was azacitidine, which was used in 45.4% of higher-risk and 12.7% of lower-risk MDS patients. The 5-year OS rate after treatment with azacitidine was 12.1% (9.5-15.1%) for of higher-risk MDS patients and 33.9% (25.6-42.4%) for lower-risk patients. The second most common treatment was erythropoiesis-stimulating agents, given to just 20% of lower-risk patients. This is the first paper presenting large-scale, Japanese data on survival and clinical characteristics in patients with MDS and CMML.


Asunto(s)
Leucemia Mieloide Aguda , Leucemia Mielomonocítica Crónica , Síndromes Mielodisplásicos , Masculino , Humanos , Leucemia Mielomonocítica Crónica/tratamiento farmacológico , Leucemia Mielomonocítica Crónica/epidemiología , Japón/epidemiología , Antimetabolitos Antineoplásicos/uso terapéutico , Síndromes Mielodisplásicos/tratamiento farmacológico , Síndromes Mielodisplásicos/epidemiología , Azacitidina/uso terapéutico , Leucemia Mieloide Aguda/tratamiento farmacológico
19.
Int J Cardiol ; 396: 131554, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-37875211

RESUMEN

BACKGROUND: There is a lack of predictive biomarkers for the onset or activity of protein-losing enteropathy (PLE), a Fontan procedure-associated complication. Here, we aimed to identify the gut microbiota composition of patients with active PLE and investigate its relationship with PLE activity. METHODS: This multicenter case-control study involved patients who developed PLE (n = 16) after the Fontan procedure and those who did not (non-PLE; n = 20). Patients with PLE who maintained a serum albumin level of ≥3 g/dL for >1 year were included in the remissive-stage-PLE group (n = 9) and those who did not maintain this level were included in the active-PLE group (n = 7). 16S rRNA gene sequencing analysis of fecal samples was performed using QIIME2 pipeline. Alpha (Shannon and Faith's phylogenetic diversity indices) and beta diversity was assessed using principal coordinate analysis based on unweighted UniFrac distances. RESULTS: Shannon and Faith's phylogenetic diversity indices were lower in the active-PLE group than in the remissive-stage- (q = 0.028 and 0.025, respectively) and non-PLE (q = 0.028 and 0.017, respectively) groups. Analysis of beta diversity revealed a difference in the microbiota composition between the active-PLE and the other two groups. Linear discriminant effect size analysis demonstrated differences in the relative abundance of Bifidobacterium and Granulicatella spp., and Ruminococcus torques between patients with active- and those with remissive-stage-PLE. CONCLUSIONS: Gut microbiota dysbiosis was observed in patients with active PLE. Changes in the bacterial composition of the gut microbiota and decreased diversity may be associated with the severity of PLE.


Asunto(s)
Procedimiento de Fontan , Microbioma Gastrointestinal , Enteropatías Perdedoras de Proteínas , Humanos , Procedimiento de Fontan/efectos adversos , Enteropatías Perdedoras de Proteínas/diagnóstico , Enteropatías Perdedoras de Proteínas/etiología , Estudios de Casos y Controles , Disbiosis/diagnóstico , Disbiosis/complicaciones , Filogenia , ARN Ribosómico 16S/genética
20.
Int J Hematol ; 119(1): 24-38, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38015362

RESUMEN

This report covers acute myeloid leukemia (AML) results from a multicenter, prospective observational study of AML, myelodysplastic syndromes, and chronic myelomonocytic leukemia in Japan. From August 2011 to January 2016, 3728 AML patients were registered. Among them, 42% were younger than 65, and the male-to-female ratio was 1.57:1. With a median follow-up time of 1807 days (95% confidence interval [CI]: 1732-1844 days), the estimated 5-year overall survival (OS) rate in AML patients (n = 3707) was 31.1% (95% CI: 29.5-32.8%). Trial-enrolled patients had a 1.7-fold higher OS rate than non-enrolled patients (5-year OS, 58.9% [95% CI: 54.5-63.1%] vs 35.5% [33.3-37.8%], p < 0.0001). Women had a higher OS rate than men (5-year OS, 34% [95% CI; 31.4-36.7%] vs 27.7% [25.7-29.7%], p < 0.0001). The OS rate was lower in patients aged 40 and older than those under 40, and even lower in those over 65 (5-year OS for ages < 40, 40-64, 65-74, ≥ 75: 74.5% [95% CI; 69.3-79.0%] vs 47.5% [44.4-50.6%] vs 19.3% [16.8-22.0%] vs 7.3% [5.5-9.4%], respectively). This is the first paper to present large-scale data on survival and clinical characteristics in Japanese AML patients.


Asunto(s)
Leucemia Mieloide Aguda , Leucemia Mielomonocítica Crónica , Síndromes Mielodisplásicos , Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Japón/epidemiología , Leucemia Mieloide Aguda/epidemiología , Leucemia Mieloide Aguda/terapia , Estudios Prospectivos
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