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1.
Medicine (Baltimore) ; 103(14): e37751, 2024 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-38579024

RESUMO

The demand for Janus Kinase-2 (JAK2) testing has been disproportionate to the low yield of positive results, which highlights the need for more discerning test strategies. The aim of this study is to introduce an artificial intelligence application as a more rational approach for testing JAK2 mutations in cases of erythrocytosis. Test results were sourced from samples sent to a tertiary hospital's genetic laboratory between 2017 and 2023, meeting 2016 World Health Organization criteria for JAK2V617F mutation testing. The JAK2 Somatic Mutation Screening Kit was used for genetic testing. Machine learning models were trained and tested using Python programming language. Out of 458 cases, JAK2V617F mutation was identified in 13.3%. There were significant differences in complete blood count parameters between mutation carriers and non-carriers. Various models were trained with data, with the random forest (RF) model demonstrating superior precision, recall, F1-score, accuracy, and area under the receiver operating characteristic, all reaching 100%. Gradient boosting (GB) model also showed high scores. When compared with existing algorithms, the RF and GB models displayed superior performance. The RF and GB models outperformed other methods in accurately identifying and classifying erythrocytosis cases, offering potential reductions in unnecessary testing and costs.


Assuntos
Inteligência Artificial , Policitemia , Humanos , Aprendizado de Máquina , Algoritmos , Hemoglobinas , Janus Quinase 2/genética
2.
Arq Bras Cardiol ; 120(8): 20220808, 2023 07.
Artigo em Inglês, Português | MEDLINE | ID: mdl-37586004

RESUMO

Acute promyelocytic leukemia (APL) is a subgroup of acute myeloid leukemia (AML). Although it is known that hemorrhagic complications are common, thrombotic complications are not as rare as thought. However, myocardial infarction and ischemic stroke incidence are very rare during AML. Here, we present the astonishing case of APL diagnosed with pancytopenia in its presentation with acute myocardial infarction and ischemic stroke.


A leucemia promielocítica aguda (LPA) é um subgrupo da leucemia mieloide aguda (LMA). Embora se saiba que as complicações hemorrágicas são comuns, as complicações trombóticas não são tão raras quanto se pensa. No entanto, infarto do miocárdio e incidência de acidente vascular cerebral isquêmico são muito raros durante a LMA. Aqui, apresentamos o caso surpreendente de LPA diagnosticada com pancitopenia em sua apresentação com infarto agudo do miocárdio e acidente vascular cerebral isquêmico.


Assuntos
AVC Isquêmico , Leucemia Mieloide Aguda , Leucemia Promielocítica Aguda , Infarto do Miocárdio , Trombose , Humanos , Leucemia Mieloide Aguda/complicações , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/epidemiologia , Leucemia Promielocítica Aguda/complicações , Leucemia Promielocítica Aguda/diagnóstico , Leucemia Promielocítica Aguda/epidemiologia , Trombose/complicações , Incidência , Infarto do Miocárdio/complicações , AVC Isquêmico/complicações
3.
PLoS One ; 18(8): e0288625, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37556439

RESUMO

The Validated Hemophilia Regimen Treatment Adherence Scale-Prophylaxis (VERITAS-Pro) assesses adherence to prophylaxis treatment recommendations in hemophilia patients. This study aimed to adapt the VERITAS-Pro into Turkish and evaluate its reliability and validity. The research design used is a psychometric study. A convenience sample of 102 patients with hemophilia A or B was followed by the Aegean Adult Hemophilia and Thrombosis Center. The VERITAS-Pro was adapted to Turkish in six steps, including forward- and back-translation, committee review, and reliability and validity analysis. Based on the confirmatory factor analysis, modification indices suggested discrepancies amongst items, which were improved upon the removal of items 11 and 15. Findings from this alternative model are: χ2/df = 1.34; RMSEA = 0.05; SRMR = 0.09; and IFI = 0.92. The alternative model showed high adherence rates. Cronbach's alpha value for the Turkish version was found to be 0.83. The test-retest reliability of the Turkish scale ranged from 0.31 to 0.78. All items discriminated significantly between participants who were more adherent and those who were less adherent (t = 23.53; p<0.01). Translation of the VERITAS-Pro into local languages enables more accurate measurement of treatment adherence among people with hemophilia and facilitates cross-cultural comparison studies. According to the validity and reliability evidence obtained, the psychometric properties of the Turkish version of the VERITAS-Pro are suitable.


Assuntos
Hemofilia A , Adulto , Humanos , Hemofilia A/tratamento farmacológico , Psicometria , Reprodutibilidade dos Testes , Inquéritos e Questionários , Idioma
4.
Int J Clin Pract ; 2023: 8545431, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37122395

RESUMO

Introduction: COVID-19 pandemic has led to an increased rate of intensive care unit (ICU) stays. Intermediate care units (IMCUs) are a useful resource for the management of patients with severe COVID-19 that do not require ICU admission. In this research, we aimed to determine survival outcomes and parameters predicting mortality in patients who have been admitted to IMCU. Materials and Methods: Patients who were admitted to IMCU between April 2019 and January 2021 were analyzed retrospectively. Sociodemographics, clinical characteristics, and blood parameters on admission were compared between the patients who died in IMCU and the others. Blood parameters at discharge were compared between survived and deceased individuals. Survival analysis was performed via Kaplan-Meier analysis. Blood parameters predicting mortality were determined by univariate and multivariate Cox regression analysis. Results: A total of 140 patients were included within the scope of this study. The median age was 72.5 years, and 77 (55%) of them were male and 63 (45%) of them were female. A total of 37 (26.4%) patients deceased in IMCU, and 40 patients (28.5%) were transferred to ICU. Higher platelet count (HR 3.454; 95% CI 1.383-8.625; p=0.008), procalcitonin levels (HR 3.083; 95% CI 1.158-8.206; p=0.024), and lower oxygen saturation (HR 4.121; 95% CI 2.018-8.414; p < 0.001) were associated with an increased risk of mortality in IMCU. At discharge from IMCU, higher procalcitonin levels (HR 2.809; 95% CI 1.216-6.487; p=0.016), lower platelet count (HR 2.269; 95% CI 1.012-5.085; p=0.047), and noninvasive mechanic ventilation requirement (HR 2.363; 95% CI 1.201-4.651; p=0.013) were associated with an increased risk of mortality. Median OS was found as 41 days. The overall survival rate was found 40% while the IMCU survival rate was 73.6%. Conclusions: IMCU seems to have a positive effect on survival in patients with severe COVID-19 infection. Close monitoring of these parameters and early intervention may improve survival rates and outcomes.


Assuntos
COVID-19 , Unidades de Terapia Intensiva , Idoso , Feminino , Humanos , Masculino , Pandemias , Pró-Calcitonina , Estudos Retrospectivos , Instituições para Cuidados Intermediários
5.
Arq. bras. cardiol ; 120(8): 20220808, 2023. graf
Artigo em Português | LILACS-Express | LILACS | ID: biblio-1447335

RESUMO

Resumo A leucemia promielocítica aguda (LPA) é um subgrupo da leucemia mieloide aguda (LMA). Embora se saiba que as complicações hemorrágicas são comuns, as complicações trombóticas não são tão raras quanto se pensa. No entanto, infarto do miocárdio e incidência de acidente vascular cerebral isquêmico são muito raros durante a LMA. Aqui, apresentamos o caso surpreendente de LPA diagnosticada com pancitopenia em sua apresentação com infarto agudo do miocárdio e acidente vascular cerebral isquêmico.


Abstract Acute promyelocytic leukemia (APL) is a subgroup of acute myeloid leukemia (AML). Although it is known that hemorrhagic complications are common, thrombotic complications are not as rare as thought. However, myocardial infarction and ischemic stroke incidence are very rare during AML. Here, we present the astonishing case of APL diagnosed with pancytopenia in its presentation with acute myocardial infarction and ischemic stroke.

6.
Leuk Res Rep ; 18: 100336, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35789744

RESUMO

Although novel therapies have improved the treatment outcome of patients, chronic lymphocytic leukaemia (CLL) is still considered incurable. Recently, a novel coronavirus, severe acute respiratory syndrome coronavirus 2 (SARS-CoV2), causing coronavirus disease 2019 (Covid 19), emerged in late 2019, and it has posed a global health threat. In a limited number of cases, it has been shown that some lymphoma types spontaneously regress after SARS-CoV2 infection suggesting that the infection can trigger de immune system against the tumour cell. Cross-reactivity of pathogen-specific T cells with tumour antigens and natural killer cell activation can be the possible mechanism of this hypothesis.

9.
Indian J Hematol Blood Transfus ; 35(4): 692-698, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31741621

RESUMO

We aimed to analyze the characteristics and response rates of different treatment modalities in hairy cell leukemia patients over 20 diagnosed as hairy cell leukemia (HCL). Clinical data, response rates and survival outcome of the patients who were diagnosed with HCL were retrospectively analyzed. Fifty-two patients with a median age of 50 (28-87) years were enrolled in the study. 38 patients (73%) were male and male to female ratio was 2.7. First line therapy was cladrabine in 36 patients (69.2%). The overall response rate was 97%. CR and PR rates were 86.1% and 11.1%, respectively. Interferon was used in 10(19.2%) patients who were diagnosed before 2000s years. CR and PR rates were 70% and 30%, respectively. Although the CR rates were lower in IFN group, this difference could not be reached statistically significance (p = 0.24). The median follow up was 48 months (12-252). The median OS was not reached and median PFS was 150 months (95% CI, 116-214). The OS at 36 and 48 months were 95.9% and 92.3%, respectively and the PFS at 36 and 48 months were 90.2% and 83.4%, respectively. After the introduction of purine analogues, the fate of the HCL patients have been changed. Cladrabin achieved very high response rates in both young and older patients, in our study. Although relapse still constitutes a problem, another single dose of cladrabine results in good response rates.

11.
Int J Rheum Dis ; 21(2): 502-509, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28941122

RESUMO

OBJECTIVE: Periostin has been shown to be involved in bone anabolism through the regulation of Wnt-ß-catenin signaling. It may be one of the pathogenic mechanisms in syndesmophyte formation in ankylosing spondylitis (AS). The aim of this study was to evaluate serum periostin levels in patients with AS and to assess relationships among biomarkers of bone formation and periostin in disease outcomes, particularly radiographic changes. METHODS: Ninety-seven consecutive AS patients (78% male) and 48 healthy controls (75% male) were included in the study. Serum periostin, dickkopf-1 (DKK-1), sclerostin and vascular endothelial growth factor (VEGF) levels were measured using commercially available enzyme-linked immunosorbent assay kits. Disease-related characteristics of patients were assessed using Ankylosing spondylitis disease activity score - C-reactive protein (ASDAS-CRP), Bath AS Disease Activity Index, Bath AS Functional Index and Bath AS metrology index. Radiographs were scored using the modified New York criteria and modified Stokes AS spinal score (mSASSS). RESULTS: Compared with control subjects, patients with AS had significantly lower serum levels of periostin (P < 0.001) and sclerostin (P < 0.001), but higher serum levels of VEGF (P < 0.001) and high-sensitivity CRP (P < 0.001). Serum periostin (P = 0.005) and sclerostin levels (P = 0.016) were significantly lower in patients with very high disease activity according to ASDAS-CRP. Current age (P = 0.009), age at symptom onset (P = 0.021) and hip joint involvement (P = 0.012) were independently associated with the development of syndesmophyte, in contrast to biomarkers of bone metabolism that we evaluated. CONCLUSION: Our results suggest that periostin is down-regulated in AS patients with highly active disease and may contribute to disease pathogenesis through an interaction with Wnt signaling.


Assuntos
Osso e Ossos/metabolismo , Moléculas de Adesão Celular/sangue , Osteogênese , Espondilite Anquilosante/sangue , Via de Sinalização Wnt , Proteínas Adaptadoras de Transdução de Sinal , Adulto , Biomarcadores/sangue , Proteínas Morfogenéticas Ósseas/sangue , Osso e Ossos/diagnóstico por imagem , Osso e Ossos/fisiopatologia , Proteína C-Reativa/análise , Estudos de Casos e Controles , Estudos Transversais , Regulação para Baixo , Feminino , Marcadores Genéticos , Humanos , Peptídeos e Proteínas de Sinalização Intercelular/sangue , Masculino , Pessoa de Meia-Idade , Espondilite Anquilosante/diagnóstico por imagem , Espondilite Anquilosante/fisiopatologia , Fator A de Crescimento do Endotélio Vascular/sangue , Adulto Jovem
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