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OBJECTIVES: To evaluate the genetic polymorphisms in IL-2 and IL-2RA genes in schizophrenia (SCZ) patients by comparing them with healthy controls. METHODS: A sample of 127 patients with SCZ and 100 healthy volunteers were included in the case-control study. These individuals were consecutively selected from the Malazgirt State Hospital Psychiatry Outpatient Clinic in Mus, Turkey, over the three months from October 2020 to December 2020. The Structured Clinical Interview for DSM-5 Disorders, Clinician Version (SCID-5-CV) was used to confirm the diagnosis according to the DSM-5 criteria. In addition, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to determine gene polymorphisms from DNA material. RESULTS: Our findings indicated significant differences in the IL-2 genotype and allele frequencies between SCZ patients and the healthy control group. Specifically, the frequency of the homozygous GG genotype was notably higher in SCZ patients compared to the control group. Conversely, when comparing the IL-2RA genotype and allele frequencies of SCZ patients with the control group, no statistically significant differences were observed between the 2 groups. When compared to individuals with other genotypes, interaction analysis indicated that carriers of the GG/AG (IL-2/IL-2RA) genotype demonstrated a significantly increased risk of SCZ. CONCLUSION: In light of the analyses, our study indicates that while the IL-2 genotype polymorphism may be considered a risk factor for developing SCZ, the IL-2RA variant was not associated with SCZ among Turkish patients.
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Interleucina-2 , Esquizofrenia , Animais , Humanos , Camundongos , Estudos de Casos e Controles , Epistasia Genética , Interleucina-2/genética , Polimorfismo Genético , Esquizofrenia/genética , Turquia , Receptores de Interleucina-2/metabolismoRESUMO
Abnormality of the immune system may play an important role in the pathogenesis of schizophrenia (SCZ). We aim to investigate the relationship between clinical features of SCZ and tumor necrosis factor-alpha (TNF-α) -238 G/A, -308 G/A polymorphisms in SCZ patients by comparing genotype distributions of TNF-α gene polymorphisms between patients and healthy controls. A sample of 113 patients with SCZ and 104 healthy volunteers was included in the study. SCID-I was used to confirming the diagnosis according to DSM-IV-TR criteria. We evaluated the patients with some scales and data forms in terms of clinical features, symptom severity, level of insight, suicidal behavior, and treatment response. PCR-RFLP was used to determine TNF-α gene polymorphisms from DNA material. The distributions of TNF-α - 238 G/A and TNF-α - 308 G/A polymorphisms of the patients diagnosed with SCZ were not significantly different from the control group. There was a significant difference in the TNF-α - 238 G/A genotype distributions between treatment-resistant and treatment-responsive SCZ patients. Again, the distributions of TNF-α - 238 G/A genotype of attempted suicide patients in SCZ were significantly different from the non-attempted suicide of SCZ patients. Whereas TNF-α - 238 G/A and -308 G/A polymorphisms were not associated with SCZ, TNF-α - 238 G/A polymorphism may be related to treatment resistance and attempted suicide in SCZ patients in the Turkish population.
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Esquizofrenia , Fator de Necrose Tumoral alfa , Estudos de Casos e Controles , Predisposição Genética para Doença , Genótipo , Humanos , Polimorfismo Genético , Polimorfismo de Nucleotídeo Único , Esquizofrenia/tratamento farmacológico , Esquizofrenia/genética , Tentativa de Suicídio , Fator de Necrose Tumoral alfa/genéticaRESUMO
BACKGROUND: PNPK gene mutations result in DNA repair disorders and have a spectrum of neurodevelopmental manifestations. To date, cancer predisposition has not been described in patients with PNKP mutations. OBSERVATION: Here, we report a patient with PNKP mutation, who developed AML at age of five and underwent reduced-intensity HSCT. CONCLUSION: Although many DNA repair disorders are known to have increased risk of malignancy, association between PNKP mutations and malignancy is not well-described. This report is the first description of a PNPK mutation patient developing a malignancy and undergoing curative HSCT.
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Transplante de Células-Tronco Hematopoéticas , Leucemia Mieloide Aguda , Enzimas Reparadoras do DNA/genética , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Humanos , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/terapia , Mutação , Monoéster Fosfórico Hidrolases/genética , Fosfotransferases (Aceptor do Grupo Álcool)/genética , Polinucleotídeo 5'-Hidroxiquinase/genética , Estudos RetrospectivosRESUMO
Delayed recovery of thrombocytopenia is a well-known complication after allogeneic HSCT. Eltrombopag (ELT), a thrombopoietin receptor agonist (TRAs), induces platelet maturation and release. Mostly conducted in adults, some of the previous studies have shown that ELT seems to enhance platelet recovery for post-allogeneic HSCT thrombocytopenia, appears efficacious, and offers transfusion independence. To evaluate the safety and efficacy of ELT in pediatric patients with prolonged isolated thrombocytopenia (PIT) or secondary failure of platelet recovery (SFPR) after alloHSCT. Retrospective analysis of childhood patients who received treatment with ELT for persistent thrombocytopenia after alloHSCT between May 2016 and August 2019. We evaluated the safety and efficacy of ELT in 18 childhood patients with PIT or SFPR after alloHSCT. Eltrombopag (50 mg/d) treatment was started in all patients, above 6 years of age and 20 kg weight, who had thrombocytopenia despite neutrophil engraftment on the 30th day of HSCT. Our objective was to decrease the need for platelet transfusion and have a platelet count of more than 50 000/µL. The overall response rate was 77.7%. The median time to achieve a platelet level above 30 000/µL and 50 000/µL was 21 and 44 days, respectively. In four patients, platelet count never reached 30 000/mm3 . In two patients, the treatment was discontinued due to grade 3 hepatotoxicity. Our study supports the efficacy and relative safety of ELT use for the treatment of PIT and SFPR seen after alloHSCT in children.
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Benzoatos/uso terapêutico , Fármacos Hematológicos/uso terapêutico , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Hidrazinas/uso terapêutico , Pirazóis/uso terapêutico , Trombocitopenia/tratamento farmacológico , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Contagem de Plaquetas , Transfusão de Plaquetas/estatística & dados numéricos , Receptores de Trombopoetina/agonistas , Estudos Retrospectivos , Trombocitopenia/diagnóstico , Trombocitopenia/etiologia , Trombocitopenia/terapia , Resultado do TratamentoRESUMO
INTRODUCTION: (Ph-like) ALL is a subset of leukemia which has a gene expression profile similar to Ph+disease, but without the presence of BCR-ABL1 translocation. CASE DESCRIPTION: We reported an exceptional case of a child with relapsed Ph-like ALL with IKZF1 gene deletion treated with high-dose ruxolitinib as monotherapy, after multi-agent chemotherapy. He remains in continued MRD-negative leukemia remission with full donor chimerism at 12 months post-HSCT. DISCUSSION: The circumstance that makes our case featured is the usage of ruxolitinib as monotherapy. This report, we believe, is a pioneering report for a frequent disease with a high risk of failure for the outcome.
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Antineoplásicos/uso terapêutico , Transplante de Células-Tronco Hematopoéticas/métodos , Nitrilas/uso terapêutico , Cromossomo Filadélfia , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Pirazóis/uso terapêutico , Pirimidinas/uso terapêutico , Transplante Haploidêntico/métodos , Pré-Escolar , Terapia Combinada , Deleção de Genes , Marcadores Genéticos , Humanos , Fator de Transcrição Ikaros/genética , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , RecidivaRESUMO
In the pediatric population, hematopoietic stem cell transplantation (HSCT) is used to treat a wide variety of diseases, both malignant and nonmalignant. For many of these diseases, HSCT is a well-established treatment. Acute graft-versus-host disease (GVHD) continues to be a leading cause of morbidity and mortality after allogeneic hematopoietic stem cell transplantation. Graft versus host disease is a common complication of allo-SCT which is induced by donor T cell recognition of recipient alloantigens. The occurrence of autologous GVHD suggests that inappropriate recognition of host self-antigens may occur. GVHD in patients who received autologous HSCT is extremely rare compared to patients who received allogeneic HSCT. We present the case of a 4-year-old girl with metastatic neuroblastoma who spontaneously developed autologous GVHD after autologous HSCT.
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INTRODUCTION: Epidemiologic studies on pediatric acute lymphoblastic leukemias (ALL) have been conducted to evaluate the possible risk factors including genetic, infectious and environmental factors with the objective of idenfying the etiology. Mannose-binding lectin 2 (MBL2) plays an important role in first-line immune defense. HLA DRB1 alleles play a role in presentation of peptides to T cells and in activation of the adaptive immune response. OBJECTIVE: In our study, we aimed to investigate both the MBL2 gene variant and HLA-DRB1 alleles in pediatric ALL patients. MATERIALS: In this study, 86 high-risk ALL patients and 100 controls were included. Polymerase Chain Reaction (PCR)-Restriction Fragment Length Polymorphism (PCR-RFLP) and PCR-sequence specific primer (SSP) methods were used for detection of polymorphism of the MBL2 and HLA-DRB1 alleles, respectively. RESULTS: The frequency of the MBL2 AB genotype was lower in female ALL patients, compared to male ALL patients (p = 0.034). An association was found between the MBL2 BB genotype and DRB1*07 and among patients with the MBL2 BB genotype; those who also carried the DRB1*07 and *04 alleles were significantly higher than those without the DRB1*07 and *04 alleles. (p = 0.048, p = 0.022, respectively). CONCLUSION: This is the first study suggesting that the MBL2 BB genotype in association with the DRB1*07 or co-inheritance of the HLA-DRB1*04 and HLA DRB1*07 may have an impact on the etiopathogenesis of the disease.
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OBJECTIVES: To describe the clinical characteristics of patients with chronic neutropenia. METHODS: Data of 36 patients with chronic neutropenia, who were followed up in the authors' clinic between May 2013 and May 2020, were analyzed retrospectively. Patients were diagnosed based on their clinical and laboratory characteristics. RESULTS: A total of 36 patients (23 females, 13 males) were included in the study. The mean age at diagnosis was 9.85 ± 9.17 mo while the mean follow-up time was 21.83 ± 20.03 mo. The mean absolute neutrophil count (ANC) at admission was 462.5 ± 388.8 cells/mm3 (median = 375 cells/mm3), and the lowest and highest ANC mean was 241.2 ± 262.1 cells/mm3 (median = 125 cells/mm3), and 1362.9 ± 1127.9 cells/mm3 (median = 925 cells/mm3), respectively. Idiopathic neutropenia was found in 28 (77.8%) patients, autoimmune neutropenia in 6 (16.7%) patients, and congenital neutropenia in 2 (5.6%) patients. Neutrophil normalization was observed in 19 (52.8%) of the patients. CONCLUSIONS: Chronic neutropenia is a heterogeneous picture that presents with different clinical symptoms in childhood. The cause of neutropoenia in children is usually benign and resolves spontaneously but especially in those with severe neutropoenia genetic examination should be performed.
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Neutropenia , Criança , Feminino , Hospitalização , Humanos , Contagem de Leucócitos , Masculino , Neutropenia/diagnóstico , Neutropenia/etiologia , Neutrófilos , Estudos RetrospectivosRESUMO
OBJECTIVE: In this study, we sought to describe the clinical, laboratory, and genetic character- istics of patients diagnosed with primary hemophagocytic lymphohistiocytosis. Thus, we aimed to evaluate the early diagnosis and appropriate treatment options for pediatric hemophago- cytic lymphohistiocytosis patients. MATERIALS AND METHODS: Medical records of 9 patients diagnosed with primary hemophago- cytic lymphohistiocytosis between November 2013 and December 2019 were analyzed retro- spectively. Clinical, genetic, and laboratory characteristics, family histories, initial complaints, physical examination findings, age at diagnosis, treatment choices, and clinical follow-up of all patients were investigated. RESULTS: The mean age at diagnosis was 11 months (range: 1.5 months to 17 years). Genetic analysis was performed in all patients, and a disease-related mutation was detected in 8 (89%) of them. Among clinical features, 6 (66%) patients had fever, 5 (56%) had splenomegaly, 4 (44%) had lymphadenopathy, 4 (44%) had skin rash, and 4 (44%) had neurological findings. Hemophagocytosis was observed in the bone marrow samples of 6 (66%) patients. Disease remission was achieved in 7 (78%) patients. Hematopoietic stem cell transplantation was per- formed in 7 (78%) patients. CONCLUSION: Hemophagocytic lymphohistiocytosis may present with different clinical symptoms that can cause a significant diagnostic delay. The only curative treatment option in primary hemophagocytic lymphohistiocytosis patients is hematopoietic stem cell transplantation. The chemotherapy should be started as early as possible, in order to achieve a disease remission. Patients should be referred to the appropriate bone marrow transplant center for hematopoi- etic stem cell transplantation as soon as they reach the disease remission.
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PURPOSE: The aim of this study was to assess the psychometric validation of the Quality of Life and FAMCARE scales in Turkish family caregivers of cancer patients. METHODS: This is a descriptive study involving 100 family caregivers of cancer patients. The validity and reliability study of the scales was performed in two phases. Phase I focused on the construction of the Turkish version of the instruments and pilot testing. Phase II was the psychometric assessment of the scales. RESULTS: The caregivers stated that the two questionnaires were easy to read and to understand. However, the psychometric validation performed afterwards revealed that both the ordering of the factor loadings and content of the scales were influenced by prevailing characteristics of Turkish society. Caregivers were satisfied with the care their patients received, and family concerns were the most negatively affected quality-of-life (QOL) dimensions. Factors affecting the QOL and satisfaction with care were age, co-residence, relationship to patient, gender of the patients and caregivers, stage of the disease of the patient and marital status of the caregivers. CONCLUSION: Psychometric validation of the Quality of Life and FAMCARE scales demonstrates that these culturally adapted scales are valid and reliable tools to assess the QOL and satisfaction of Turkish family caregivers of cancer patients.
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Cuidadores/psicologia , Família/psicologia , Neoplasias/psicologia , Qualidade de Vida , Perfil de Impacto da Doença , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Satisfação do Paciente/estatística & dados numéricos , Satisfação Pessoal , Projetos Piloto , Relações Profissional-Paciente , Psicometria , Inquéritos e Questionários/normas , Turquia , Adulto JovemRESUMO
PURPOSE: This study investigated whether covering the colonic anastomoses with amniotic membrane (AM) protects the anastomotic healing from the adverse effects of immediate 5-fluorouracil (5-FU) administration. METHODS: One hundred twenty wistar albino rats were randomized to one of four groups (I-IV, 30 rats in each) and underwent a standardized left colon resection and anastomoses. The anastomoses of the rats in groups II (AM) and IV (5-FU + AM) were covered with AM. Saline solution (2 ml/day; groups I (control) and II) or 5-FU (20 mg/kg/day; groups III (5-FU) and IV) was administered to the rats intraperitoneally once daily from the day of operation until sacrificed. Half of each group was sacrificed on the postoperative day 4 (IA, IIA, IIIA, and IVA) and other half on the postoperative day 8 (IB, IIB, IIIB, and IVB), and their anastomoses were evaluated when sacrificed. RESULTS: The dehiscence rate of anastomotic dehiscence and adhesion formation were significantly higher in groups IIIA and IIIB compared with groups IVA and IVB, respectively. Bursting pressure was significantly higher in the 5-FU + AM groups than in the 5-FU groups. The inflammatory cell infiltration was significantly lower in groups IIIA and IVA compared with group IA, in groups IIIB and IVB compared with group IB, and in group IVA compared with group IIIA. Neoangiogenesis, fibroblast activity, collagen deposition, and hydroxyproline levels were significantly higher in the 5FU + AM groups compared with control and 5-FU groups. Malondialdehyde levels were significantly higher in the 5-FU groups than in the 5-FU + AM groups. CONCLUSION: Covering colon anastomoses with AM protects them, preventing leakage and reversing the negative effects of 5-FU administration.
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Antimetabólitos Antineoplásicos/toxicidade , Curativos Biológicos , Colectomia , Colo/efeitos dos fármacos , Colo/cirurgia , Fluoruracila/toxicidade , Cicatrização/efeitos dos fármacos , Anastomose Cirúrgica , Animais , Antimetabólitos Antineoplásicos/administração & dosagem , Peso Corporal , Colectomia/efeitos adversos , Colo/metabolismo , Colo/patologia , Feminino , Fluoruracila/administração & dosagem , Hidroxiprolina/metabolismo , Injeções Intraperitoneais , Malondialdeído/metabolismo , Estresse Oxidativo/efeitos dos fármacos , Pressão , Ratos , Ratos Wistar , Deiscência da Ferida Operatória/etiologia , Deiscência da Ferida Operatória/patologia , Fatores de Tempo , Aderências TeciduaisRESUMO
Patients' satisfaction with the care given by nursing students will have a say in the development of practical nursing student education and in improving the quality of clinical training. The purpose of this study was to test whether the Turkish version of "The Oncology Patients' Perceptions of the Quality of Nursing Care Scale-Short Form (OPPQNCS-SF)" is appropriate for oncology patients done by studying the tool's validity and reliability and to evaluate the effect of care given by nursing students on oncology patients' satisfaction with the care they receive. The Turkish version of OPPQNCS-SF's item-score correlation coefficients were rs=0.38-0.85 (p<0.05). The Cronbach values were 0.91 for the total scale, 0.66-0.87 for the subscales. The results show that the scale is a valid and reliable tool for Turkish patients. The mean scores for every subscale and item were high. The patients were most pleased about the respect they were shown, with the answered to their questions, with the sincere interest shown and with the knowledge of nurses about their condition. The patients' high level of satisfaction with the care nursing students gave is important to ensure that nurses, who will have primary responsibility for patient care in the future, receive a good clinical and theoretical education.
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Educação em Enfermagem , Avaliação Educacional/métodos , Neoplasias/enfermagem , Satisfação do Paciente , Inquéritos e Questionários , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , TurquiaRESUMO
Undertaking a health-related course at university can facilitate an awareness of health-promoting lifestyles. We carried out a descriptive and cross-sectional study with 1616 university students in Istanbul, Turkey. Students from the nursing schools were compared to those from the schools of social sciences using a Turkish version of the Health-promoting Lifestyle Profile (HPLP) II after a validation study. The nursing students had more positive health-promoting lifestyles than those of the non-nursing students. Furthermore, fourth-year nursing students had higher scores in most of the subscales of the HPLP II than did the students from the lower years; conversely, the fourth-year non-nursing students had lower scores. The sociodemographic variables, self-perceived health status, relations with family and friends, and self-perceived academic performance were associated with the HPLP. The implications are discussed for the curricula and on-campus facilities that focus on health promotion activities.
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Promoção da Saúde , Estilo de Vida , Estudantes de Enfermagem , Estudos Transversais , Educação em Enfermagem , Feminino , Comportamentos Relacionados com a Saúde , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Masculino , Inquéritos e Questionários , TurquiaRESUMO
Medroxyprogesterone acetate (MPA) - a safe depot contraceptive - is shown previously to reduce painful crises of sickle cell anemia, which is parallel with the recent findings showing progesterone induction of fetal hemoglobin genes. This would be a way to reduce transfusions for late term thalassemia major and sickle cell-disease cases with no chances left for a stem cell transplantation. In these patients, transfusional hemosiderosis causes irreversible damage to many organs despite the available iron-chelating agents. Pharmacological strategies either target the conformal structure of the defective adult hemoglobin or aim to activate fetal hemoglobin concentrations. The only concern on MPA may be its thromboembolic risks, which may be uncoupled with agents acting both anti-coagulant and inductive on the blood oxygen-carrying affinity. Such agents could be valproic acid and aspirin. Valproic acid is being safely used to treat epilepsy and its histone acetylating function may lead its induction of fetal hemoglobin. Aspirin was shown to increase oxygen affinity of hemoglobin via acetylating lysine residues and its general acetylating activity on proteins such as histones makes it also an interesting candidate to activate fetal hemoglobin. We propose that combining MPA with clinically available doses of valproic acid and aspirin would be beneficial in terms of both reduced coagulation risks and increased oxygen affinity to decrease the transfusions and to improve the prognosis in late-phase hemoglobin disorders.
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Aspirina/uso terapêutico , Transfusão de Sangue Intrauterina/mortalidade , Hemoglobinopatias , Medroxiprogesterona/uso terapêutico , Modelos Biológicos , Complicações Hematológicas na Gravidez/tratamento farmacológico , Ácido Valproico/uso terapêutico , Aspirina/farmacologia , Relação Dose-Resposta a Droga , Quimioterapia Combinada , Feminino , Hemoglobinopatias/complicações , Hemoglobinopatias/tratamento farmacológico , Hemoglobinopatias/fisiopatologia , Humanos , Medroxiprogesterona/farmacologia , Gravidez , Terceiro Trimestre da Gravidez , Ácido Valproico/farmacologiaRESUMO
INTRODUCTION: Serum soluble CD30 (sCD30), a 120-kD glycoprotein that belongs to the tumor necrosis factor receptor family, has been suggested as a marker of rejection in kidney transplant patients. The aim of this study was to evaluate the relationship between sCD30 levels and anti-HLA antibodies, and to compare sCD30 levels in patients undergoing hemodialysis (HD) with and without failed renal allografts and transplant recipients with functioning grafts. METHODS: 100 patients undergoing HD with failed grafts (group 1), 100 patients undergoing HD who had never undergone transplantation (group 2), and 100 kidney transplant recipients (group 3) were included in this study. Associations of serum sCD30 levels and anti-HLA antibody status were analyzed in these groups. RESULTS: The sCD30 levels of group 1 and group 2 (154 ± 71 U/mL and 103 ± 55 U/mL, respectively) were significantly higher than those of the transplant recipients (group 3) (39 ± 21 U/mL) (p<0.001 and p<0.001). The serum sCD30 levels in group 1 (154 ± 71 U/mL) were also significantly higher than group 2 (103 ± 55 U/mL) (p<0.001). Anti-HLA antibodies were detected in 81 (81%) and 5 (5%) of patients in groups 1 and 2, respectively (p<0.001). When multiple regression analysis was performed to predict sCD30 levels, the independent variables in group 1 were the presence of class I anti-HLA antibodies (ß = 0.295; p = 0.003) and age (ß = -0.272; p = 0.005), and serum creatinine (ß = 0.218; p = 0.027) and presence of class II anti-HLA antibodies (standardized ß = 0.194; p = 0.046) in group 3. CONCLUSIONS: Higher sCD30 levels and anti-HLA antibodies in patients undergoing HD with failed renal allografts may be related to higher inflammatory status in these patients.
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Rejeição de Enxerto/sangue , Antígenos HLA/imunologia , Isoanticorpos/sangue , Antígeno Ki-1/sangue , Transplante de Rim , Adulto , Biomarcadores/sangue , Feminino , Seguimentos , Rejeição de Enxerto/imunologia , Humanos , Masculino , Diálise RenalRESUMO
AIMS: The aim of this study was to investigate the mannose-binding lectin 2 (MBL-2), interleukin (IL)-4, Toll-like receptor 4 (TLR-4), angiotensin converting enzyme (ACE), chemokine receptor 5 (CCR-5), and IL-1 receptor antagonist (RA) gene polymorphisms (GPs) in acute leukemias (ALs) and to evaluate their roles in febrile neutropenia (FN) resulting from chemotherapy. METHODS: The study included 60 AL patients hospitalized between the period of July 2001 and August 2006. Polymorphisms for the genes ACE(I/D), CCR-5, IL-1RA, MBL-2, TLR-4, and IL-4 were typed by polymerase chain reaction (PCR) and/or PCR-restriction fragment length polymerase. Genotype frequencies for these genes were compared in the patient and control groups. The relationships between the genotypes and the body distribution of infections, pathogens, the duration of neutropenia, and febrile episodes in AL patients were evaluated. RESULTS: No significant differences in either the genotype distribution or the allelic frequencies of TLR-4, IL-4, CCR-5, IL-1RN GPs were observed between patients and healthy controls. The AB/BB genotype (53.3%) in the MBL-2 gene was found to be significantly higher in the AL patients compared with control groups. There were correlations between the presence of MBL-2, TLR-4, and ACE polymorphisms and clinical parameters due to FN. Overall, bacteremia was more common in MBL BB and ACE DD. Gram-positive bacteremia was more common in ACE for ID versus DD genotype. Gram-negative bacteremia was more common for both the MBL-2 AB/BB genotype and TLR-4 AG genotype. Median durations of febrile episodes were significantly shorter in ACE DD and MBL AB/BB. CONCLUSION: Although TLR-4, ACE, and MBL-2 GPs have been extensively investigated in different clinical pictures, this is the first study to evaluate the role of these polymorphisms in the genetic etiopathogenesis of FN in patients with ALs. As a conclusion, TLR-4, ACE, and MBL-2 genes might play roles in the genetic etiopathogenesis of FN in patients with ALs.
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Neutropenia Febril/genética , Leucemia/genética , Lectina de Ligação a Manose/genética , Peptidil Dipeptidase A/genética , Polimorfismo Genético , Receptor 4 Toll-Like/genética , Doença Aguda , Neutropenia Febril/complicações , Neutropenia Febril/imunologia , Marcadores Genéticos , Humanos , Proteína Antagonista do Receptor de Interleucina 1/genética , Interleucina-4/genética , Leucemia/complicações , Leucemia/imunologia , Receptores CCR5/genética , TurquiaRESUMO
The aim of this study was to explore the association between polymorphisms of five cytokine genes and clinical parameters in patients with Philadelphia-positive (Ph+) chronic myeloid leukemia (CML) treated with imatinib. We analyzed five cytokine genes (interleukin [IL]-6, IL-10, gamma interferon [IFN-γ], transforming growth factor beta-1 [TGF-ß1], and tumor necrosis factor-alpha [TNF-α]) in 60 cases with Ph+ CML and 74 healthy controls. Cytokine genotyping was performed by the polymerase chain reaction-sequence-specific primer. All data were analyzed using the de Finetti program and SPSS version 14.0 for Windows. No significant differences were detected between the CML group and healthy controls with respect to the distributions and numbers of genotypes and alleles in TNF-α, TGF-ß1, IL-10, and IFN-γ. However, the GG genotype associated with high expression in IL-6 was found to be significantly more frequent in CML as compared to controls (p=0.010). The median follow-up time was 49.3 months (range 6.1-168.4) and the median duration of imatinib treatment was 39.5 months (range 5.2-103.4) for these patients. On multivariateanalysis, only IL-10 GCC/GCC highly produced haplotypes were significantly associated with a shorter event-free survival. The relationship between cytokine genotypes/haplotypes and clinical parameters in CML has not been investigated before. Our results suggest that IL-10 may be a useful marker for CML prognosis and theGG genotype of the IL-6 gene may be associated with susceptibility.
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Biomarcadores Tumorais/genética , Citocinas/genética , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Polimorfismo de Nucleotídeo Único , Adulto , Idoso , Feminino , Humanos , Interferon gama/genética , Interleucina-10/genética , Interleucina-6/genética , Masculino , Pessoa de Meia-Idade , Prognóstico , Fator de Crescimento Transformador beta1/genética , Fator de Necrose Tumoral alfa/genética , Adulto JovemRESUMO
INTRODUCTION: The study was conducted in order to investigate the effect of disease-related variables such as socio-demographic characteristics, disease complaints and use of necrosis factor (anti-TNF) on the body image and self-esteem in patients with rheumatoid arthritis. METHOD: The data was collected by an Introductory Information Form, Body Image Scale (PfP) BIS and the Coopersmith Self-Esteem Inventory (SEI) in 120 patients with rheumatoid arthritis and in 120 healthy controls. One-way analysis of variance, Tukey HDS analysis, t-test, Kruskal-Wallis test, the Mann-Whitney U test, and Pearson's and Spearman's correlation coefficients were used to compare the data. RESULT: 60% of the control group were in the 20-44 year-age group, 75% were women and 30.8% had a bachelor's degree or above, while 60% of patient group were in the 20-44 year-age group, 71.7% were women and 36.7% had a bachelor's degree or higher education level. We observed that the body satisfaction and self-esteem levels were higher in the 20-44 age group, in those with a bachelor's degree or higher education and in the patients who had no additional disease and who did not use anti-TNF. The body satisfaction and self-esteem levels were lower in those who had been receiving treatment for longer than 5 years, who had changes in hands and body, who had gait disturbance and who had changes in family and working life. CONCLUSION: The assessment of the psychosocial needs with a holistic approach and training programs for body image and self-esteem would be advisable for patients with rheumatoid arthritis who are aged 45-59 years, who have low self-esteem, who have additional diseases, who use anti-TNF, who have changes in hands and body and who have primary-school education.
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OBJECTIVES: This study aims to assess the frequency and factors relevant to metabolic syndrome in workers employed in the collection and disposal of solid waste sector. MATERIALS AND METHODS: This cross-sectional study was conducted in the major solid waste collecting and disposal company named ISTAÇ AS (Istanbul Environmental Protection and Waste Processing Corporation) in Istanbul, Turkey. All 715 male employees of the company were included in the study without sampling. The study was completed with 619 subjects. Since it was a small group, female workers were not taken into account in the study. Metabolic syndrome frequency was investigated according to the NCEP-ATP III criteria including the levels of systolic and diastolic blood pressure, waist perimeter, HDL, triglyceride, fasting blood glucose values. RESULTS: Metabolic syndrome was present in 40.9% of participating employees. Metabolic syndrome was more common in those working in the excavation field (54.0%), such as caterpillar operators (56.5%), and less common in employees working in administrative offices, such as office staff or managers, who were under 35 years old and who had been working for less than 10 years (p < 0.05). Employees working in work stations other than administrative offices had a 2.60 times higher risk compared to those working in administrative offices. CONCLUSIONS: Metabolic syndrome may be related to work station, job, age and period worked by the subjects.