RESUMO
Despite sharing a similar genetic abnormality, patients with core binding factor acute myeloid leukemia (CBF-AML), which is characterized by the presence of t(8;21) or inv(16)/t(16;16), show heterogeneous survival. Other molecular or cytogenetic factors are supposed to have an impact on the prognosis. We enrolled 24 CBF-AML patients to determine the impact of cytogenetic abnormality, and c-KIT, FLT3, NPM1, and CEBPA mutations on the prognosis. Only three patients had the c-KIT mutation (3/24, 12.5%) and one had the FLT3 mutation. However, over half of the patients (14/24) harbored additional cytogenetic changes, including ten with loss of sexual chromosomes (LOS) [all in the t(8;21) group], and six had additional abnormalities (two cases had both LOS and additional abnormalities). From this small-number study, no association was found between c-KIT mutation and survival and relapse rate. However, additional chromosome abnormalities had a significant association with relapse of the disease (P = 0.027). Stem cell transplant had a trend of benefitting patients after relapse (P = 0.065). This implies that chromosome abnormalities occur in CBF-AML and might take part in the heterogeneous nature of CBF-AML.
Assuntos
Aberrações Cromossômicas , Fatores de Ligação ao Core/genética , Leucemia Mieloide Aguda/genética , Adulto , Idoso , Feminino , Humanos , Leucemia Mieloide Aguda/mortalidade , Masculino , Pessoa de Meia-Idade , Mutação , Nucleofosmina , Prognóstico , Proteínas Proto-Oncogênicas c-kit/genética , Adulto JovemRESUMO
Gain of function mutation of Janus kinase 2 (JAK2V617F) has been identified in Philadelphia-negative myeloproliferative diseases; about half of essential thrombocythemia (ET) patients harbor this mutation. The activated JAK-STAT pathway promotes cell proliferation, differentiation and anti-apoptosis. We studied the role of negative regulators of the JAK-STAT pathway, PIAS, and SOCS in ET patients. Twenty ET patients and 20 healthy individuals were enrolled in the study. Thirteen of the ET patients harbored the JAK2V617F mutation based on mutation analysis. Quantitative-PCR was applied to assay the expression of SOCS1, SOCS3, PIAS1, PIAS3. The expression levels of PIAS1 and PIAS3 were significantly lower in ET groups than that in normal individuals. There was no significant difference between JAK2V617F (+) and JAK2V617F (-) patients. SOCS1 and SOCS3 expression did not differ between ET patients and normal individuals, or between JAK2V617F (+) and JAK2V617F (-) patients. We suggest that failed negative regulators of the JAK-STAT pathway take part in the pathomechanism of ET.
Assuntos
Chaperonas Moleculares/genética , Proteínas Inibidoras de STAT Ativados/genética , Proteínas Modificadoras Pequenas Relacionadas à Ubiquitina/genética , Trombocitemia Essencial/genética , Estudos de Casos e Controles , Feminino , Humanos , Janus Quinase 2/genética , Masculino , Pessoa de Meia-Idade , Chaperonas Moleculares/metabolismo , Mutação de Sentido Incorreto , Proteínas Inibidoras de STAT Ativados/metabolismo , Proteínas Modificadoras Pequenas Relacionadas à Ubiquitina/metabolismo , Proteína 1 Supressora da Sinalização de Citocina , Proteína 3 Supressora da Sinalização de Citocinas , Proteínas Supressoras da Sinalização de Citocina/genética , Proteínas Supressoras da Sinalização de Citocina/metabolismo , Trombocitemia Essencial/metabolismoRESUMO
Depressive symptoms are highly prevalent yet undertreated in people living with HIV/AIDS (PLHAs). As part of a larger study of symptom self-management (N=1217), this study examined the prevalence, correlates, and characteristics (intensity, distress, and impact) of depressive symptoms, and the self-care strategies used to manage those symptoms in PLHAs in five countries. The proportion of respondents from each country in the total sample reporting depressive symptoms in the past week varied and included Colombia (44%), Norway (66%), Puerto Rico (57%), Taiwan (35%), and the USA (56%). Fifty-four percent (n=655) of the total sample reported experiencing depressive symptoms in the past week, with a mean of 4.1 (SD 2.1) days of depression. Mean depression intensity 5.4 (SD 2.7), distressfulness 5.5 (SD 2.86), and impact 5.5 (SD 3.0) were rated on a 1-10 scale. The mean Center for Epidemiologic Studies Depression Scale score for those reporting depressive symptoms was 27 (SD 11; range 3-58), and varied significantly by country. Respondents identified 19 self-care behaviors for depressive symptoms, which fell into six categories: complementary therapies, talking to others, distraction techniques, physical activity, medications, and denial/avoidant coping. The most frequently used strategies varied by country. In the US sample, 33% of the variance in depressive symptoms was predicted by the combination of education, HIV symptoms, psychological and social support, and perceived consequences of HIV disease.
Assuntos
Transtorno Depressivo/terapia , Infecções por HIV/psicologia , Autocuidado/métodos , Adaptação Psicológica , Adulto , Idoso , Idoso de 80 Anos ou mais , Antidepressivos/uso terapêutico , Colômbia/epidemiologia , Comunicação , Terapias Complementares/métodos , Transtorno Depressivo/complicações , Feminino , Infecções por HIV/diagnóstico , Infecções por HIV/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Noruega/epidemiologia , Porto Rico/epidemiologia , Índice de Gravidade de Doença , Apoio Social , Taiwan/epidemiologia , Estados Unidos/epidemiologia , Adulto JovemRESUMO
The prevalence of peripheral neuropathy is frequent in HIV disease and is often associated with antiretroviral therapy. Unhealthy behaviours, particularly substance-use behaviours, are utilized by many HIV-positive individuals to manage neuropathic symptoms. As part of a larger study on self-care for symptoms in HIV disease, this study analyzed the prevalence and characteristics of unhealthy behaviours to self-manage peripheral neuropathy in HIV disease. Sociodemographic and disease-related correlates and unhealthy behaviours were examined in a convenience sample of 1,217 respondents who were recruited from data collection sites in several US cities, Puerto Rico, Colombia, and Taiwan. Results of the study indicated that respondents with peripheral neuropathy (n=450) identified a variety of unhealthy self-care behaviours including injection drug use, oral drug use, smoking cigarettes and alcohol ingestion. Specific unhealthy behaviours that participants reported to alleviate peripheral neuropathy included use of marijuana (n=67), smoking cigarettes (n=139), drinking alcohol (n=81) and street drugs (n=30). A subset of those individuals (n=160), who identified high levels of neuropathy (greater than five on a scale of 1-10), indicated significantly higher use of amphetamines and injection drug use in addition to alcohol use and cigarette smoking. For participants from Norway, substance use (using alcohol: 56%) was one of the most frequent self-management strategies. Implications for clinical practice include assessment and education of persons with HIV for self-care management of the complex symptom of peripheral neuropathy.
Assuntos
Infecções por HIV/psicologia , Doenças do Sistema Nervoso Periférico/terapia , Assunção de Riscos , Autocuidado/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Consumo de Bebidas Alcoólicas/epidemiologia , Antirretrovirais/efeitos adversos , Atitude Frente a Saúde , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Noruega/epidemiologia , Doenças do Sistema Nervoso Periférico/induzido quimicamente , Doenças do Sistema Nervoso Periférico/psicologia , Prevalência , Porto Rico/epidemiologia , Fatores de Risco , Fumar/epidemiologia , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Taiwan/epidemiologia , Estados Unidos/epidemiologiaRESUMO
Peripheral neuropathy is the most common neurological complication in HIV and is often associated with antiretroviral therapy. As part of a larger study on self-care for symptoms in HIV disease, this study analyzed the prevalence and characteristics of peripheral neuropathy in HIV disease, sociodemographic and disease-related correlates and self-care strategies. A convenience sample of 1,217 respondents was recruited from data collection sites in several US cities, Puerto Rico, Colombia and Taiwan. Results of the study indicated that respondents with peripheral neuropathy (n=450) identified 20 self-care behaviors including complementary therapies, use of medications, exercise and rest and/or elevation of extremities. Ratings of frequency and effectiveness were also included. An activities checklist summarized into five categories of self-care behaviors including activities/thoughts, exercise, medications, complementary therapies and substance was used to determine self-care behaviors. Taking a hot bath was the most frequent strategy used by those with peripheral neuropathy (n=292) and received the highest overall rating of effectiveness of any self-management strategies included in this study at 8.1 (scale 1-10). Other self-care strategies to manage this symptom included: staying off the feet (n=258), rubbing the feet with cream (n=177), elevating the feet (n=236), walking (n=262), prescribed anti-epileptic agent (n=80), prescribed analgesics (n=84), over-the-counter medications (n=123), vitamin B (n=122), calcium supplements (n=72), magnesium (n=48), massage (n=156), acupuncture (n=43), reflexology (n=23) and meditation (n=80). Several behaviors that are often deemed unhealthy were included among the strategies reported to alleviate peripheral neuropathy including use of marijuana (n=67), cigarette smoking (n=139), drinking alcohol (n=81) and street drugs (n=30).