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1.
Ann Hematol ; 2020 Feb 20.
Artigo em Inglês | MEDLINE | ID: mdl-32078009

RESUMO

Risk-adapted therapy has significantly contributed to improved survival rates in pediatric acute lymphoblastic leukemia (ALL) and reliable detection of chromosomal aberrations is mandatory for risk group stratification. This study evaluated the applicability of panel-based RNA sequencing and array CGH within the diagnostic workflow of the German study group of the international AIEOP-BFM ALL 2017 trial. In a consecutive cohort of 117 children with B cell precursor (BCP) ALL, array analysis identified twelve cases with an IKZF1plus profile of gene deletions and one case of masked hypodiploidy. Genetic markers BCR-ABL1 (n = 1), ETV6-RUNX1 (n = 25), and rearrangements involving KMT2A (n = 3) or TCF3 (n = 3) were assessed by established conventional techniques such as karyotyping, FISH, and RT-PCR. Comparison of these results with RNA sequencing analysis revealed overall consistency in n=115/117 cases, albeit with one undetected AFF1-KMT2A fusion in RNA sequencing and one undetected ETV6-RUNX1 fusion in conventional analyses. The combined application of RNA sequencing, FISH, and CGH+SNP array reliably detected all genetic markers necessary for risk stratification and will be used as the diagnostic standard workflow for BCP-ALL patients enrolled in the AIEOP-BFM ALL 2017 study. Prospectively, consistent collection of genome-wide CGH+SNP array as well as RNA sequencing data will be a valuable source to elucidate new prognostic lesions beyond established markers of pediatric ALL. In this respect, RNA sequencing identified various gene fusions in up to half of the IKZF1plus (n = 6/12) and B-other (n = 19/36) cases but not in cases with hyperdiploid karyotypes (n = 35). Among these fusions, this study reports several previously undescribed in frame PAX5 fusions, including PAX5-MYO1G and PAX5-NCOA6.

3.
J Bras Pneumol ; 46(1): e20180251, 2020.
Artigo em Inglês, Português | MEDLINE | ID: mdl-31967271

RESUMO

OBJECTIVE: To characterize the clinical and histological profile, as well as treatment patterns, of patients with early-stage, locally advanced (LA), or advanced/metastatic (AM) lung cancer, diagnosed between 2000 and 2014, in Brazil. METHODS: This was an analytical cross-sectional epidemiological study employing data obtained for the 2000-2014 period from the hospital cancer registries of two institutions in Brazil: the José Alencar Gomes da Silva National Cancer Institute, in the city of Rio de Janeiro; and the São Paulo Cancer Center Foundation, in the city of São Paulo. RESULTS: We reviewed the data related to 73,167 patients with lung cancer. The proportions of patients with early-stage, LA, and AM lung cancer were 13.3%, 33.2%, and 53.4%, respectively. The patients with early-stage lung cancer were older and were most likely to receive a histological diagnosis of adenocarcinoma; the proportion of patients with early-stage lung cancer remained stable throughout the study period. In those with LA lung cancer, squamous cell carcinoma predominated, and the proportion of patients with LA lung cancer decreased significantly over the period analyzed. Those with AM lung cancer were younger and were most likely to have adenocarcinoma; the proportion of patients with AM lung cancer increased significantly during the study period. Small cell carcinoma accounted for 9.2% of all cases. In our patient sample, the main treatment modality was chemotherapy. CONCLUSIONS: It is noteworthy that the frequency of AM lung cancer increased significantly during the study period, whereas that of LA lung cancer decreased significantly and that of early-stage lung cancer remained stable. Cancer treatment patterns, by stage, were in accordance with international guidelines.

4.
Trials ; 21(1): 35, 2020 Jan 07.
Artigo em Inglês | MEDLINE | ID: mdl-31910872

RESUMO

BACKGROUND: Breast cancer is a global public health issue. The side effects of the clinical treatment can decrease the quality of life of these women. Therefore, a healthy lifestyle is essential to minimize the physical and psychological side effects of treatment. Physical activity has several benefits for women with breast cancer, and Pilates solo and belly dancing can be an enjoyable type of physical activity for women with breast cancer undergoing clinical treatment. The purpose of this study is to provide a Pilates solo and a belly dance protocol (three times per week/16 weeks) for women undergoing breast cancer treatment and compare its effectiveness with that in the control group. METHODS: The participants will be allocated to either the intervention arm (Pilates solo or belly dance classes three times per week for 16 weeks) or a control group (receipt of a booklet on physical activity for patients with breast cancer and maintenance of habitual physical activity routine). The Pilates solo and belly dance classes will be divided into three stages: warmup and stretching, the main stage, and relaxation. Measurements of the study outcomes will take place at baseline; postintervention; and 6, 12, and 24 months after the end of the intervention (maintenance period). The data collection for both groups will occur with a paper questionnaire and tests covering general and clinical information. The primary outcome will be quality of life (EORT QLQ-C30 and EORT QLQ-BR23), and secondary outcomes will be physical aspects such as cardiorespiratory fitness (6-min walk test and cycle ergometer), lymphedema (sum of arm circumference), physical activity (IPAQ short version), disabilities of the arm (DASH), range of motion (goniometer test), muscular strength (dynamometer test) and flexibility (sit and reach test), and psychological aspects such as depressive symptoms (Beck Depression Inventory), body image (Body Image After Breast Cancer Questionnaire), self-esteem (Rosenberg), fatigue (FACT-F), pain (VAS), sexual function (FSFI), and sleep quality (Pittsburgh Sleep Quality Index). DISCUSSION: In view of the high prevalence of breast cancer among women, the implementation of a specific protocol of Pilates solo and belly dancing for patients with breast cancer is important, considering the necessity to improve their physical and psychological quality of life. Pilates solo and belly dancing are two types of physical activity that involve mental and physical concentration, music, upper limb movements, femininity, and social involvement. An intervention with these two physical activities could offer options of supportive care to women with breast cancer undergoing treatment, with the aim being to improve physical and psychological quality of life. TRIAL REGISTRATION: ClinicalTrials.gov, NCT03194997. Registration date 12 August 2017. Universal Trial Number (World Health Organization), U1111-1195-1623.

5.
Thromb Res ; 185: 49-54, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31759190

RESUMO

INTRODUCTION: Venous thromboembolism (VTE) is a frequent clinical event in patients with gynecologic cancer. However, studies that exclusively address the incidence of VTE according the type of gynecologic cancer are poorly reported. OBJECTIVE: To analyze the incidence of VTE and the associated factors in women with different types of gynecologic cancer. RESULTS: A total of 1.885 women with gynecologic cancer was included. Among them, 40.8% (769) experienced venous thromboembolic events, most of them in the first two years after cancer diagnosis. There was no statistically significant difference in the incidence of VTE according to the type of gynecologic cancer. However, we observed statistically significant difference in the incidence of pulmonary embolism when stratified by type of thromboembolic events. Multiple regression analysis identified the absence of cancer treatment as a factor associated with VTE in patients with gynecologic cancer (OR = 3.14, CI 95% 2.50-3.96), particularly in patients with cervical (OR = 2.48, CI 95% 1.81-3.42), endometrial (OR = 4.18, CI 95% 2.46-7.10), and ovarian (OR = 3.55, CI 95% 2.22-5.68) cancer. For the total study population, especially patients with cervical and endometrial cancer an advanced stage of cancer was found to be associated with the incidence of VTE. CONCLUSION: We observed that 40.8% experienced venous thromboembolic events. These events were associated with the treatment modality and the stage of cancer.

6.
J Appl Oral Sci ; 28: e20190198, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31800876

RESUMO

other: Pathological parameters have been indicated as tumor prognostic factors in oral carcinoma. OBJECTIVE: The objective of this study was to investigate the impact of pathological parameters on prognosis of patients affected only by tongue and/or floor of the mouth squamous cell carcinoma (SCC). METHODOLOGY: In total, 380 patients treated in the Brazilian National Cancer Institute (INCA) from 1999 to 2006 were included. These patients underwent radical resection followed by neck dissection. The clinical and pathological characteristics were recorded. The Kaplan-Meier method and Cox proportional hazards model were used in survival analysis. Overall survival (OS), cancer-specific survival (CSS) and disease-free interval (DFI) were estimated. Cox residuals were evaluated using the R software version 3.5.2. Worst OS, CSS and DFI were observed in patients with tumors in advanced pathological stages (p<0.001), with the presence of perineural invasion (p<0.001) and vascular invasion (p=0.005). RESULTS: Advanced pathological stage and the presence of a poorly differentiated tumor were independent prognostic factors for OS and CSS. However, advanced pathological stage and perineural invasion were independent predictors of a shorter OS, DFI and CSS. CONCLUSION: Pathological stage and perineural invasion were the most significant pathological variables in survival analysis in tongue and/or floor of the mouth SCC.


Assuntos
Carcinoma de Células Escamosas/patologia , Soalho Bucal/patologia , Neoplasias Bucais/patologia , Neoplasias da Língua/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Escamosas/mortalidade , Carcinoma de Células Escamosas/cirurgia , Intervalo Livre de Doença , Feminino , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Neoplasias Bucais/mortalidade , Neoplasias Bucais/cirurgia , Esvaziamento Cervical/métodos , Gradação de Tumores/métodos , Estadiamento de Neoplasias , Análise de Regressão , Fatores de Tempo , Neoplasias da Língua/mortalidade , Neoplasias da Língua/cirurgia , Adulto Jovem
7.
Support Care Cancer ; 2019 Dec 12.
Artigo em Inglês | MEDLINE | ID: mdl-31832820

RESUMO

PURPOSE: The purpose of this study was to access changes in health-related quality of life (HRQoL) caused by radioiodine therapy (RAI) in thyroid cancer patients. METHODS: Prospective cohort study at Brazilian National Cancer Institute with patients enrolled between March 2015 and June 2017. RAI was performed by administration of 1.11 to 9.25 GBq of Na131I. EORTC QLQ-C30 v3 and EORTC QLQ-H&N35 questionnaires were applied to determine HRQoL at baseline, 1 week and 3 months after RAI. HRQoL during follow-up was evaluated by calculation of score absolute changes in each domain. Descriptive analysis was performed by measures of central tendency and dispersion. Changes in HRQoL were evaluated by paired t-test. The association between social demographic and clinical data and HRQoL was assessed by univariate linear regression for significantly changed domains, and p < 0.05 was considered significant. RESULTS: An improvement on global HRQoL and social Function post-therapy (p = 0.002 and p < 0.001) and on role (p = 0.038), emotional (p < 0.001), and cognitive function (p = 0.016) during RAI were observed. Nausea and vomiting (p < 0,001), pain (p < 0.001), sensitivity problems (p < 0.001), problems with social contact (p < 0.001), dry mouth (p = 0.007), and sticky saliva (p = 0.001) increased during RAI. Females were more sensible to changes in nausea and vomiting, and patients < 55 years experienced higher changes in sense during RAI. CONCLUSIONS: Although RAI might affect HRQoL negatively, patients experienced an improvement on global HRQoL and symptoms reduction post-therapy.

9.
Arch Gynecol Obstet ; 300(6): 1671-1677, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31616988

RESUMO

PURPOSE: The aim of this study was to investigate the impact of body mass index (BMI) on disease-free survival (DFS) and overall survival (OS) in women diagnosed with EEC and treated at the Brazilian National Cancer Institute. METHODS: The study comprised 849 women diagnosed with EEC who underwent surgical treatment between January, 2000 and December, 2011. The demographic and clinical characteristics of these patients were collected from medical records and their nutritional status was based on the BMI criteria. Univariate (OS and DFS) and multivariate analyses were performed using the Kaplan-Meier method and Cox proportional hazards models, respectively. RESULTS: About 83.2% of patients were obese or overweight at time of diagnosis, with a mean BMI of 31.83. Patients were followed for an average of 34.97 months. There were 111 recurrences (13.1%) and 140 deaths (16.5%), with mean DFS of 51.90 months and mean OS of 52.25 months. There was no significant association between BMI and DFS or OS. In multivariate analysis we did not find an increased hazard of recurrence or death among overweight or obese patients. CONCLUSION: Overweight and obesity had no impact on EEC prognosis on the assessed cohort. Further studies are warranted.

10.
Haematologica ; 2019 Oct 10.
Artigo em Inglês | MEDLINE | ID: mdl-31601692

RESUMO

ABL-class fusions other than BCR-ABL1 characterize about 2-3% of precursor B-cell acute lymphoblastic leukemia. Case series indicated that patients suffering from these subtypes have a dismal outcome and may benefit from the introduction of tyrosine kinase inhibitors. We analyzed clinical characteristics and outcome of 46 ABL-class fusion positive cases other than BCR-ABL1 treated according to AIEOP-BFM ALL 2000 and 2009 protocols; 13 of them received a tyrosine kinase inhibitor during different phases of treatment. ABL-class fusion positive cases had a poor early treatment response: minimal residual disease levels of >5x10-4 were observed in 71.4% of patients after induction treatment and in 51.2% after consolidation phase. For the entire cohort of 46 cases the 5-year probability of event-free survival was 49.1+8.9% and that of overall survival 69.6+7.8%; the cumulative incidence of relapse was 25.6+8.2% and treatment-related mortality 20.8+6.8%. One out of 13 cases with tyrosine kinase inhibitor added to chemotherapy relapsed while eight of 33 cases without tyrosine kinase inhibitor treatment suffered from relapse, including six in 17 patients who had not received hematopoietic stem cell transplantation. Stem cell transplantation seems to be effective in preventing relapses (only three relapses in 25 patients), but was associated with a very high treatment-related mortality (6 patients). These data indicate a major need for an early identification of ABL-class fusion positive acute lymphoblastic leukemia cases and to establish a properly designed, controlled study aimed at investigating the use of tyrosine kinase inhibitors, the appropriate chemotherapy backbone and the role of hematopoietic stem cell transplantation. (ClinicalTrials.gov identifier: NTC00430118, NCT00613457, NCT01117441).

11.
Transl Androl Urol ; 8(4): 395-404, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31555564

RESUMO

The aim of this narrative review was to determine effects of whole body vibration exercises (WBVE) on the pelvic floor muscle (PFM) of healthy and unhealthy individuals. Searches were performed in the databases PubMed, Scopus, Science Direct and PEDRo. The level of evidence and methodological quality of the selected papers were determined. It was included six studies with a total of 189 participants (95.76% women) with ages ranging from 18 to 68 years. It was reported that WBVE: (I) improves the PFMs strength and quality of life (QOL) in individuals with urinary incontinence; (II) does not cause (PFM) fatigue in nulliparous continent women; (III) leads to higher (PFM) activation in subjects with weakened (PFM) and achieves higher pelvic floor (PF) activation than maximum voluntary contraction alone; (IV) in an individual with postprostatectomy stress urinary incontinence (SUI), over a period of 6 weeks after starting treatment, the patient regained continence (usage of 1 safety pad) and (V) has a significant effect on the electromyographic response and additionality and the rating of perceived exertion (RPE) significantly increased with increased frequency of the mechanical vibration. Relevant findings are presented and demonstrated that the WBVE might be highly relevant to the management of clinical disorders of the (PFM). Nevertheless, this intervention must be more understood and known to be used in the management of individuals with impairment of the (PFM) and there is the necessity of more research in this area.

12.
Cad. saúde colet., (Rio J.) ; 27(3): 307-315, jul.-set. 2019. tab
Artigo em Português | LILACS-Express | ID: biblio-1039441

RESUMO

Resumo Introdução O câncer do colo do útero é o terceiro tipo de câncer mais comum entre as mulheres em todo o mundo. Sua incidência é consideravelmente mais alta em países de baixa e média renda. Objetivo Verificar a prevalência de incapacidade em mulheres com câncer do colo do útero (CCU) utilizando a Classificação Internacional de Funcionalidade, Incapacidade e Saúde (CIF) como referência. Método Estudo observacional transversal realizado com mulheres com CCU em tratamento em um hospital de referência no Rio de Janeiro. Foi aplicado o checklist da CIF e um instrumento específico de avaliação da qualidade de vida (FACT-Cx - Functional Assessment of Cancer Therapy-Cervix Cancer). Resultados Foram incluídas no estudo 116 mulheres. A maior parte foi diagnosticada no estádio IB, e mais da metade recebeu como tratamento a quimioterapia conjugada com radioterapia. A maior prevalência de incapacidade foi encontrada para a deficiência das estruturas do sistema reprodutivo (96,6%), seguido de problemas nas funções da energia e do impulso (70,3%), funções emocionais (70,7%) e limitação para carregar e transportar objetos (67,2%). O domínio do bem-estar emocional foi o mais comprometido de acordo coma análise realizada pelo FACT-Cx. Conclusão A prevalência de incapacidade em mulheres com CCU foi elevada para todos os componentes da CIF, refletindo o impacto tanto da doença quanto do seu tratamento na funcionalidade. A abordagem biopsicossocial deve ser incorporada nas rotinas de planejamento do cuidado oncológico para mulheres com câncer do colo do útero.


Abstract Background Cervical cancer is the third most common cancer among women worldwide. Its incidence is considerably higher in low and middle-income countries. Objective To verify the prevalence of disability in women with cervical cancer (CC) using the International Classification of Functioning, Disability, and Health (ICF) as a reference. Method This is a cross-sectional observational study conducted with women with CC under treatment at a referral hospital in Rio de Janeiro. The ICF Checklist and a specific Quality of Life Assessment Tool (FACT - Cx, Cervix Cancer) were applied. Results A total of 116 women were included in the study. Most of them were diagnosed at stage IB, and more than half of them received chemotherapy combined with radiotherapy. The highest prevalence of disability was found for deficiency of reproductive system structures (96.6%), followed by problems with energy and impulse functions (70.3%), emotional functions (70.7%) and limitation for load and transport objects (67.2%). The domain of emotional well-being was the most compromised in the analysis by FACT-Cx. Conclusion The prevalence of disability in women with CC was high for all ICF components, reflecting the impact of both the disease and its treatment on functionality. The biopsychosocial approach should be incorporated into cancer care planning routines for women with cervical cancer.

13.
Health Soc Care Community ; 27(6): 1525-1533, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31381214

RESUMO

The aim of this study was to evaluate delays in the presentation of symptomatic breast cancer in women (time interval between the perception of their first sign or symptom until the first medical appointment) and its risk factors. A cohort study composed of patients with breast cancer (symptomatic) admitted to an oncological centre in the city of Rio de Janeiro, Brazil was performed. The patients were interviewed during their first hospital visit. To assess time interval as a continuous variable, the median and interquartile ranges (IQR) were calculated. The outcome comprised delay in breast cancer presentation when time from the first sign or symptom perception to the first medical appointment was ≥90 days. A descriptive analysis was performed. The association between independent variables (epidemiological, social and demographic data, related to individual healthcare, clinical and current disease) and the outcome (delay in symptomatic presentation) was assessed by a univariate analysis applying odds ratios (OR). Associations with p < .20 in the univariate analysis were included in the multiple logistic regression model. Variables with a p < .05 were retained in the final model. A total of 388 women were included. The median time was of 41 days (interquartile range - IQR: 13.2-130.0); 34.3% delayed presentation at ≥ 90 days. After adjustment, the variables associated with a delay in presentation were frequency of gynaecological examination of over than 1 year (OR: 2.59, 95% CI: 1.67-4.05), no family history of breast cancer (OR: 1.96, 95% CI: 1.15-3.35), and income lower than the minimum wage (OR: 1.62, 95% CI: 1.03-2.55). A higher score in tangible support (OR: 0.98; 95% CI: 0.96-0.99) was associated with a lesser chance of delay in presentation. Thus, delay in presentation was associated with social barriers, access to health service, health information and individual factors.

15.
Artigo em Inglês | MEDLINE | ID: mdl-31358507

RESUMO

OBJECTIVES: To analyse the association between occupational performance and women's health-related quality of life (HRQoL) during breast cancer treatment. METHODS: An analytical cross-sectional study was conducted using the Canadian Occupational Performance Measure, the European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire and its specific breast cancer-specific module (BR-23). The association between occupational performance scores and the HRQoL domains was evaluated using multiple linear regression analysis. RESULTS: The sample included 97 women. Overall, occupational performance was poor and the women's dissatisfaction with their performance resulted in a decrease in HRQoL. Following adjustment, satisfaction was associated with HRQoL in the global health status, functional, role, emotional and social functioning domains of the functional scale. In BR-23, a statistically significant association was found between satisfaction and HRQoL in the functional scale and in the body image domain. CONCLUSIONS: Women's occupational performance was impaired during breast cancer treatment, with limitations and/or restrictions in activities related to self-care, productivity and leisure that were ultimately associated with poorer HRQoL. During cancer treatment, rehabilitation strategies should focus on restoring occupational performance to levels as close as possible to that present prior to the beginning of the disease process, enabling the woman to preserve her occupational life, consequently resulting in an improvement in HRQoL.

16.
Eur J Cancer Care (Engl) ; 28(5): e13102, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31184786

RESUMO

INTRODUCTION: This study aims to assess the impact of paediatric benign and malignant solid tumours and its treatment on the health-related quality of life of children and adolescents who were followed up in a Reference Center in Pediatric Oncology in Rio de Janeiro. METHODS: It is a prospective cohort study. Quality of life assessment was performed using the PedsQL™ 4.0 Generic Core Scales and PedsQL™ 3.0 Cancer Module protocols three times: during hospital admission (T1), 6 months after admission (T2) and 1 year after admission (T3). RESULTS: We evaluated 132 patients, 59 men and 73 women, aged 2-17 years. In PedsQL™4.0, the Emotional Functioning scale was the one with the worst scores, while the scores on the Social Functioning scale was the best. In PedsQL™ 3.0, the worst domains were Procedural Anxiety and Worry. Patients with malignant bone tumours had the worst health-related quality of life. The group who received only surgery had better results. Total scores of PedsQL™4.0 and PedsQL™ 3.0 improved between T1 and T3. CONCLUSION: Children and adolescents with malignant and benign neoplasms undergo changes in quality of life as a result of the disease and treatment, but an improvement has been observed over time.

17.
Rev Saude Publica ; 53: 30, 2019 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-30942272

RESUMO

OBJECTIVE: To analyze the factors associated with the presence of depression symptoms in women after breast cancer. METHODS: Cross-sectional study with 181 women with breast cancer, aged 57.0 years (SD = 9.5), who were undergoing treatment or after treatment in the Oncology Research Center in Florianópolis, state of Santa Catarina, Brazil. The questionnaire comprised items addressing general and health information, economic level, anthropometric measures, depression symptoms (Beck Depression Inventory), self-esteem (Rosenberg Self-Esteem Scale), and body image (Body Image After Breast Cancer Questionnaire). Descriptive and inferential statistical analysis were performed by chi-square and Fisher's exact tests to verify association, Mann-Whitney U test to compare the groups and Poisson regression to identify the prevalence ratio of the factors associated with presence of depression symptoms (p < 0.05). RESULTS: We found an association between the presence of depression symptoms and the group of younger women (aged 40-60 years), those who had another disease besides cancer, those who had mastectomy surgery, those who suffered from lymphedema, and those who presented low-medium self-esteem. Less educated women presented more depressive symptoms, as did women with worse body image on the subscales of limitations, transparency, and arm concerns. CONCLUSIONS: Age, educational attainment, diagnosis of other diseases, type of surgery, lymphedema, self-esteem, and body image were factors associated with the presence of depression symptoms in Brazilian women after breast cancer. Health professionals should be aware of these relationships and try to detect depression symptoms earlier and improve the care they provide to these women.


Assuntos
Neoplasias da Mama/complicações , Neoplasias da Mama/psicologia , Depressão/etiologia , Depressão/psicologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Imagem Corporal , Brasil , Neoplasias da Mama/terapia , Estudos Transversais , Depressão/diagnóstico , Feminino , Humanos , Pessoa de Meia-Idade , Distribuição de Poisson , Qualidade de Vida , Fatores Socioeconômicos , Inquéritos e Questionários
18.
Diseases ; 7(2)2019 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-30987377

RESUMO

Immunodeficiency, centromeric instability and facial anomalies syndrome 2 (ICF2) is a rare autosomal recessive primary immunodeficiency disorder. So far, 27 patients have been reported. Here, we present three siblings with ICF2 due to a homozygous ZBTB24 gene mutation (c.1222 T>G, p. (Cys408Gly)). Immune deficiency in these patients ranged from late-onset combined immunodeficiency (CID) with severe respiratory tract infections and recurrent shingles to asymptomatic selective antibody deficiency. Evident clinical heterogeneity manifested despite a common genetic background, suggesting the pathogenic relevance of epigenetic modification. Immunological follow-up reveals a previously unidentified gradual depletion of B and CD4⁺ T cells in all three presented patients with transition of a common variable immunodeficiency (CVID)-like disease to late-onset-CID in one of them. Considering all previously published cases with ICF2, we identify inadequate antibody responses to vaccines and reduction in CD27⁺ memory B cells as prevalent immunological traits. High mortality among ICF2 patients (20%) together with the progressive course of immunodeficiency suggest that hematopoietic stem cell transplantation (HSCT) should be considered as a treatment option in due time.

19.
Eur J Breast Health ; 15(2): 76-84, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31001608

RESUMO

Objective: This study aimed to evaluate the association of axillary lymph node ratio (LNR) and number of positive lymph nodes (pN) with the risk of breast cancer recurrence and death. Materials and Methods: A retrospective cohort study of node-positive stage II and III breast cancer patients diagnosed and treated between 2008 and 2009 at the Brazilian National Cancer Institute (INCA), Brazil. Overall and disease-free survival curves for number of positive lymph nodes (pN) and lymph node ratio (LNR) risk groups were constructed using the Kaplan-Meier method and compared by the log-rank test. Multivariate analysis was performed using stepwise forward Cox regression models. Results: In total, 628 women with node-positive breast cancer were included. Most patients (69.5%) had advanced clinical stage tumors (≥IIB). The median follow-up was 58 months (range: 3-92 months). The adjusted recurrence hazard of pN2 and pN3 patients was 2.47 (95% Confidence Interval [CI] 1.72-3.56) and 2.42 (1.62-3.60), respectively, compared to pN1 patients (p<0.001), while the hazard of intermediate (0.21-0.65) and high-risk (>0.65) LNR was 2.11 (1.49-3.00) and 3.19 (2.12-4.80), respectively, compared to low-risk LNR (≤0.20) patients (p<0.001). On the other hand, the hazard of death of pN2 and pN3 patients was 2.17 (1.42-3.30) and 2.41 (1.53-3.78), respectively (p<0.001), and the hazard of intermediate (0.21-0.65) and high-risk (>0.65) LNR patients was 1.70 (1.13-2.56) and 2.74 (1.75-4.28), respectively (p≤0.001). Conclusion: Higher pN and LNR were associated with shorter disease-free survival and overall survival times.

20.
Rev. bras. ginecol. obstet ; 41(4): 242-248, Apr. 2019. tab
Artigo em Inglês | LILACS-Express | ID: biblio-1013600

RESUMO

Abstract Objective To analyze the factors associated with health-related quality of life (HRQoL) in women with cervical cancer (CC) in a single center in Rio de Janeiro, state of Rio de Janeiro, Brazil. Methods A cross-sectional study in women with a diagnosis of CC followed-up in the gynecology outpatient clinic of the Hospital do Câncer II (HCII, in the Portuguese acronym) of the Instituto Nacional de Câncer (INCA, in the Portuguese acronym). The data were collected from March to August 2015. Women with palliative care, communication/cognition difficulty, undergoing simultaneous treatment for other types of cancer, or undergoing chemotherapy and/or radiation therapy were excluded. For the evaluation of the HRQoL, a specific questionnaire for women with CC was used (Functional Assessment of Cancer Therapy - Cervix Cancer [FACT-Cx]). The total score of the questionnaire ranges from 0 to 168, with higher scores indicating a better HRQoL. Results A total of 115 women were included in the present study, with a mean age of 52.64 years old (standard deviation [SD] = 12.13). The domains of emotional (16.61; SD = 4.55) and functional well-being (17.63; SD = 6.15) were those which presented the worst scores. The factors that had an association with better HRQoL in women with CC were having a current occupation, a longer time since the treatment and diagnosis, and women who had undergone hysterectomy. Conclusion Considering the domains of HRQoL of the women treated for cervical cancer, a better score was observed in the domains of physical and social/family wellbeing. For most domains, better scores were found between those with a current occupation, with a longer time after the diagnosis and treatment, and among those who had undergone a hysterectomy.


Resumo Objetivo Analisar os fatores associados à qualidade de vida em mulheres com câncer de colo do útero tratadas em um hospital de referência no Rio de Janeiro, RJ, Brasil. Métodos Estudo transversal em mulheres com diagnóstico de câncer do colo do útero emseguimento ambulatorial no Hospital de Câncer II (HCII) do Instituto Nacional de Câncer (INCA). Os dados foram coletados no período de março a agosto de 2015. Foram excluídas as mulheres em cuidados paliativos, comdificuldade de comunicação/cognição, que estavam em tratamento simultâneo para outros tipos de câncer, ou em quimioterapia e/ou radioterapia. Para a avaliação da qualidade de vida relacionada à saúde, foi utilizado um questionário específico para mulheres com câncer de colo do útero (Avaliação Funcional da Terapia do Câncer - Câncer Cervical (FACT-Cx, na sigla em inglês). O escore total do questionário varia de 0 a 168, com escores mais altos indicando melhor qualidade de vida relacionada à saúde. Resultados Foram incluídas 115 mulheres com uma média de idade de 52,64 anos (desvio padrão [DP] = 12,13). Os domínios de questões emocionais (16,61; DP = 4,55) e de bem-estar funcional (17,63; DP = 6,15) foram os que apresentaram os piores escores. Os fatores que tiveram associação com melhor qualidade de vida relacionada à saúde em mulheres com câncer de colo do útero foram ocupação atual, maior tempo após o tratamento e diagnóstico, e mulheres que haviamsido submetidas a histerectomia. Conclusão Considerando os domínios da qualidade de vida relacionada à saúde de mulheres tratadas para câncer do colo do útero, foi observado melhor escore nos domínios de bem-estar físico e social. Para amaioria dos domínios, osmelhores escores foram observados entre aquelas com ocupação atual, com mais tempo após o diagnóstico e tratamento, além daquelas que se submeteram a histerectomia.

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