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1.
Epilepsy Behav ; 156: 109797, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38788658

RESUMO

PURPOSE: We aimed to identify factors that contribute to the discontinuation of perampanel. METHODS: We retrospectively analyzed patients with epilepsy at the Department of Psychiatry, Hokkaido University Hospital. We evaluated the factors contributing to perampanel discontinuation as primary outcomes using Cox proportional hazards regression. Then, we explored the components contributing to the primary outcomes using logistic regression analysis. RESULTS: A total of 118 patients were included, 44.9% of whom discontinued participation, 22.0% had intellectual disability, and 23.7% had a psychiatric disorder other than intellectual disability. Adverse effects occurred in 65% of the patients, 23.7% had psychiatric adverse effects (PAE), and 49.2% had common adverse effects (CAE). The effect of PER to suppress seizures was confirmed in 65.3% of them. Discontinuation was influenced by non-response (Hazard Ratio (HR) 6.70, 95% Confidence Interval (CI) 3.42-13.1), the occurrence of PAE (HR 3.68, 95% CI 1.89-7.16), CAE (HR 1.90, 95% CI 1.06-3.41), and comorbid psychiatric disorders (HR 2.35, 95% CI 1.21-4.59). Moreover, comorbid intellectual disability correlated with a low risk of PAE (OR 0.19, 95% CI 0.04-0.89). CONCLUSION: The discontinuation of perampanel is influenced by poor efficacy and the occurrence of common/psychiatric adverse effects. The discontinuation of perampanel is influenced by poor efficacy and the occurrence of common/psychiatric adverse effects. Consideration of factors contributing to perampanel discontinuation may assist in determining the indication for perampanel treatment.


Assuntos
Anticonvulsivantes , Transtornos Mentais , Nitrilas , Piridonas , Humanos , Piridonas/efeitos adversos , Piridonas/uso terapêutico , Nitrilas/efeitos adversos , Feminino , Masculino , Estudos Retrospectivos , Anticonvulsivantes/efeitos adversos , Anticonvulsivantes/uso terapêutico , Pessoa de Meia-Idade , Adulto , Transtornos Mentais/epidemiologia , Transtornos Mentais/tratamento farmacológico , Epilepsia/tratamento farmacológico , Epilepsia/epidemiologia , Idoso , Adulto Jovem , Deficiência Intelectual/epidemiologia , Adolescente
3.
Int J Hematol ; 2024 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-39058392

RESUMO

Ocular adnexal marginal zone B-cell lymphoma (OAMZL) of the mucosa-associated lymphoid tissue is a distinct subtype of B-cell lymphoma. OAMZL occasionally occurs on both sides with a varied sequence in the time course. However, few case reports have described clonal analysis of bilateral OAMZ. Here we present a case of biclonal OAMZL, that developed bilaterally at a 2-year interval. A 38-year-old woman was diagnosed with OAMZL in the right lower eyelid conjunctiva and received local radiation therapy, resulting in the disappearance of the tumor. Two years later, she developed another tumor in the left lower eyelid and was diagnosed with relapse of OAMZL. She was re-treated successfully with radiation therapy. Analysis of immunoglobulin (Ig) gene rearrangement in the bilateral tumor samples showed different clonotypic VDJ recombination within the Ig heavy chain gene and different patterns of rearrangement of the Ig light chain genes. The results indicated that independent B-cell clones causing the specific subtype of lymphoma had generated in both eyes. The biclonal nature of the lymphoma that developed sequentially in the same anatomic site in this case suggests that underlying inherent or environmental factors may lead to ongoing emergence of new tumor clones.

4.
Sci Rep ; 14(1): 19563, 2024 08 22.
Artigo em Inglês | MEDLINE | ID: mdl-39174675

RESUMO

Information about the concordance between dynamic emotional experiences and objective signals is practically useful. Previous studies have shown that valence dynamics can be estimated by recording electrical activity from the muscles in the brows and cheeks. However, whether facial actions based on video data and analyzed without electrodes can be used for sensing emotion dynamics remains unknown. We investigated this issue by recording video of participants' faces and obtaining dynamic valence and arousal ratings while they observed emotional films. Action units (AUs) 04 (i.e., brow lowering) and 12 (i.e., lip-corner pulling), detected through an automated analysis of the video data, were negatively and positively correlated with dynamic ratings of subjective valence, respectively. Several other AUs were also correlated with dynamic valence or arousal ratings. Random forest regression modeling, interpreted using the SHapley Additive exPlanation tool, revealed non-linear associations between the AUs and dynamic ratings of valence or arousal. These results suggest that an automated analysis of facial expression video data can be used to estimate dynamic emotional states, which could be applied in various fields including mental health diagnosis, security monitoring, and education.


Assuntos
Nível de Alerta , Emoções , Expressão Facial , Humanos , Emoções/fisiologia , Nível de Alerta/fisiologia , Feminino , Masculino , Adulto , Adulto Jovem , Gravação em Vídeo , Músculos Faciais/fisiologia , Face/fisiologia
5.
J Med Case Rep ; 18(1): 372, 2024 Aug 18.
Artigo em Inglês | MEDLINE | ID: mdl-39154170

RESUMO

BACKGROUND: Blast transformation is a rare but well-recognized event in Philadelphia-negative myeloproliferative neoplasms associated with a poor prognosis. Secondary acute myeloid leukemias evolving from myeloproliferative neoplasms are characterized by a unique set of cytogenetic and molecular features distinct from de novo disease. t(8;21) (q22;q22.1); RUNX1::RUNX1T1, one of the most frequent cytogenetic abnormalities in de novo acute myeloid leukemia, is rarely observed in post-myeloproliferative neoplasm acute myeloid leukemia. Here we report a case of secondary acute myeloid leukemia with t(8;21) evolving from JAK2-mutated essential thrombocythemia. CASE PRESENTATION: The patient was a 74-year-old Japanese woman who was referred because of thrombocytosis (platelets 1046 × 109/L). Bone marrow was hypercellular with increase of megakaryocytes. Chromosomal analysis presented normal karyotype and genetic test revealed JAK2 V617F mutation. She was diagnosed with essential thrombocythemia. Thrombocytosis had been well controlled by oral administration of hydroxyurea; 2 years after the initial diagnosis with ET, she presented with leukocytosis (white blood cells 14.0 × 109/L with 82% of blasts), anemia (hemoglobin 91 g/L), and thrombocytopenia (platelets 24 × 109/L). Bone marrow was hypercellular and filled with 80% of myeloperoxidase-positive blasts bearing Auer rods. Chromosomal analysis revealed t(8;21) (q22;q22.1) and flow cytometry presented positivity of CD 13, 19, 34, and 56. Molecular analysis showed the coexistence of RUNX1::RUNX1T1 chimeric transcript and heterozygous JAK2 V617F mutation in leukemic blasts. She was diagnosed with secondary acute myeloid leukemia with t(8;21)(q22;q22.1); RUNX1::RUNX1T1 evolving from essential thrombocythemia. She was treated with combination chemotherapy with venetoclax and azacytidine. After the first cycle of the therapy, blasts disappeared from peripheral blood and decreased to 1.4% in bone marrow. After the chemotherapy, RUNX1::RUNX1T1 chimeric transcript disappeared, whereas mutation of JAK2 V617F was still present in peripheral leukocytes. CONCLUSIONS: To our best knowledge, the present case is the first one with JAK2 mutation preceding the acquisition of t(8;21). Our result suggests that t(8;21); RUNX1::RUNX1T1 can be generated as a late event in the progression of JAK2-mutated myeloproliferative neoplasms. The case presented typical morphological and immunophenotypic features associated with t(8;21) acute myeloid leukemia.


Assuntos
Subunidade alfa 2 de Fator de Ligação ao Core , Janus Quinase 2 , Leucemia Mieloide Aguda , Trombocitemia Essencial , Translocação Genética , Humanos , Feminino , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/tratamento farmacológico , Idoso , Janus Quinase 2/genética , Subunidade alfa 2 de Fator de Ligação ao Core/genética , Trombocitemia Essencial/genética , Trombocitemia Essencial/tratamento farmacológico , Proteína 1 Parceira de Translocação de RUNX1/genética , Cromossomos Humanos Par 8/genética , Cromossomos Humanos Par 21/genética , Mutação
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