RESUMO
OBJECTIVE: To compare the results of neuropsychological tests, evoked potentials N200 and P300 and polymorphisms of ApoE and BDNF rs6265 between patients with normal cognition and those with mild cognitive impairment (MCI) and Alzheimer's dementia (AD). METHODS: This is a cross-sectional study of elderly individuals with normal cognition and those with MCI and AD, who were submitted to evoked potential tests (N200 and P300) by means of hearing stimuli based on the auditory oddball paradigm. Genotyping was obtained by using the real-time PCR technique. RESULTS: Sixty-five patients were evaluated as follows: 14 controls, 34 with MCI and 17 with AD. N200 latency and P300 latency and amplitude were not associated with MCI and AD diagnosis. Patients with cognitive impairment (MCI or AD) showed increase in the latencies of P300 and N200. BNDF gene was not associated with cognitive impairment. CONCLUSION: Latencies of N200 and P300 increased in cognitively impaired patients with the presence of ApoE ε-4 allele.
Assuntos
Doença de Alzheimer/diagnóstico , Apolipoproteínas E/genética , Fator Neurotrófico Derivado do Encéfalo/genética , Disfunção Cognitiva/diagnóstico , Potenciais Evocados Auditivos/fisiologia , Idoso , Idoso de 80 Anos ou mais , Alelos , Doença de Alzheimer/etiologia , Doença de Alzheimer/fisiopatologia , Estudos de Casos e Controles , Disfunção Cognitiva/genética , Disfunção Cognitiva/fisiopatologia , Estudos Transversais , Feminino , Genótipo , Humanos , Masculino , Testes NeuropsicológicosRESUMO
A 74-year-old man with a history of diabetes and arterial hypertension, presented with right ventricular failure, remarkable jugular venous distension, hepatomegaly, and swelling of the lower extremities. He was complaining of atypical chest pain and was referred for an echocardiogram and a myocardial perfusion SPECT imaging study. The echocardiogram showed normal left ventricular function with a dilated right atrium and right ventricle, severe tricuspid regurgitation, pulmonary hypertension, and an atrial septal defect with bidirectional shunt. The SPECT images showed normal left ventricular function with no areas of induced ischemia but an impressive right ventricle with severe dilatation and hypertrophy. A right ventricular "perfusion abnormality," consistent with ischemic changes, seen on stress but less evident on rest images was demonstrated on the dual isotope (Tl-201 rest/Tc-99m MIBI stress) protocol but not seen on the single isotope study (rest/stressTc-99m MIBI). Coronary angiogram showed diffuse coronary atherosclerosis but without significant obstruction.
Assuntos
Hipertrofia Ventricular Direita/diagnóstico por imagem , Hipertrofia Ventricular Direita/etiologia , Isquemia Miocárdica/complicações , Isquemia Miocárdica/diagnóstico por imagem , Tecnécio Tc 99m Sestamibi , Disfunção Ventricular Direita/diagnóstico por imagem , Disfunção Ventricular Direita/etiologia , Idoso , Humanos , Masculino , Cintilografia , Compostos RadiofarmacêuticosRESUMO
Studies indicate a lower occurrence of diabetes mellitus (DM) in patients with neurofibromatosis type 1 (NF1). Fasting blood glucose (FBG) level is the main criterion used to diagnose DM and glucose intolerance. Therefore, this study compared FBG level between adults with NF1 and non-NF1 controls. We selected clinical records of 57 out of 701 individuals attending the Neurofibromatosis Outpatient Reference Center of the Clinics Hospital of the Federal University of Minas Gerais in Brazil. The selected patients with NF1 were matched to non-NF1 controls selected from the Brazilian Longitudinal Study of Adult Health according to sex, age (range, 35-74 years) and BMI at a ratio of 1:3. In both groups, individuals with DM were excluded. Median FBG level in the NF1 group (86âmg/dl (range, 56-127âmg/dl)) was lower than that in the non-NF1 control group (102âmg/dl (range, 85-146âmg/dl)) (P<0.001). Prevalence of FBG level ≥100âmg/dl in the NF1 group (16%) was lower than that in the non-NF1 control group (63%) (P<0.05). The chance of a high FBG level was 89% lower in the NF1 group (odds ratio, 0.112; 95% CI, 0.067-0.188) (P<0.05). In conclusion, adults with NF1 showed a lower FBG level and a lower prevalence of high FBG level compared with non-NF1 controls.
RESUMO
The use of coronary angiography has undergone extraordinary expansion during the last decade but an inappropriate rate of its utilization has been reported in 0-58% of cases worldwide. In this study we showed that in a Health Care Organization in Brazil, 65.5% of elective coronary angiographies was allocated in class IIb and III of the AHA/ACC guidelines for coronary angiography for which usefulness/efficacy is less well established or is not useful or may be harmful.
Assuntos
Angiografia Coronária , Isquemia Miocárdica/diagnóstico por imagem , Adulto , Brasil , Humanos , Isquemia Miocárdica/classificaçãoRESUMO
OBJECTIVES: To evaluate nutrient intake among adult neurofibromatosis type 1 (NF1) patients. METHODS: A cross-sectional study of 60 NF1 patients (29 men, 31 women) who were ≥18 y old and were evaluated from September 2012 to September 2013 in a neurofibromatosis outpatient reference center. Patients underwent nutritional assessment, including anthropometric and dietary data collection. Food intake was evaluated using three, non-consecutive, self-reported 24-h dietary recall surveys, and nutrient intake was analyzed according to the recommendations of the dietary reference intake document. RESULTS: Forty-three patients (72%) recorded energy consumption lower than the estimated daily energy requirement (EER). Men (25/29, 86.2%) were more likely to fail to meet their target EER, compared to women (18/31, 58.1%) (P = 0.016). Inadequate intake of vitamin D, magnesium, calcium, and pyridoxine was noted between men and women, and all patients consumed excess sodium. NF1 patients did not consume adequate amounts of fiber or vitamins A and C. Excessive consumption of saturated fatty acids and lipids was also observed in both male and female patients. CONCLUSIONS: In this study, NF1 patients consumed an unhealthy diet that was rich in fats and sodium and lacking in fiber, vitamins, and minerals. Further studies are needed to investigate the role of these dietary and nutritional patterns in the severity of the clinical manifestations of NF1.
Assuntos
Dieta , Comportamento Alimentar , Neurofibromatose 1 , Avaliação Nutricional , Necessidades Nutricionais , Adulto , Estudos Transversais , Inquéritos sobre Dietas , Ingestão de Energia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
UNLABELLED: Previous findings from a case report led to the argument of whether other patients with neurofibromatosis type 1 (NF1) may have abnormal central auditory function, particularly auditory temporal processing. We hypothesized that it is associated with language and learning disabilities in this population. The aim of this study was to measure central auditory temporal function in NF1 patients and correlate it with the results of language evaluation tests. A descriptive/comparative study including 25 NF1 individuals and 22 healthy controls compared their performances on audiometric evaluation and auditory behavioral testing (Sequential Verbal Memory, Sequential Non-Verbal Memory, Frequency Pattern, Duration Pattern, and Gaps in Noise Tests). To assess language performance, two tests (phonological and syntactic awareness) were also conducted. The study showed that all participants had normal peripheral acoustic hearing. Differences were found between the NF1 and control groups in the temporal auditory processing tests [Sequential Verbal Memory (P=0.009), Sequential Non-Verbal Memory (P=0.028), Frequency Patterns (P=0.001), Duration Patterns (P=0.000), and Gaps in Noise (P=0.000)] and in language tests. The results of Pearson correlation analysis demonstrated the presence of positive correlations between the phonological awareness test and Frequency Patterns humming (r=0.560, P=0.001), Frequency Patterns labeling (r=0.415, P=0.022) and Duration Pattern humming (r=0.569, P=0.001). These results suggest that the neurofibromin deficiency found in NF1 patients is associated with auditory temporal processing deficits, which may contribute to the cognitive impairment, learning disabilities, and attention deficits that are common in this disorder. LEARNING OUTCOMES: The reader will be able to: (1) describe the auditory temporal processing in patients with neurofibromatosis type 1; and (2) describe the impact of the auditory temporal deficits in language in this population.
Assuntos
Transtornos da Audição/etiologia , Transtornos da Linguagem/etiologia , Transtornos da Memória/etiologia , Neurofibromatose 1/complicações , Adolescente , Adulto , Audiometria , Estudos de Casos e Controles , Criança , Feminino , Audição/fisiologia , Transtornos da Audição/fisiopatologia , Humanos , Transtornos da Linguagem/fisiopatologia , Testes de Linguagem , Masculino , Transtornos da Memória/fisiopatologia , Neurofibromatose 1/fisiopatologia , Testes Neuropsicológicos , Adulto JovemRESUMO
Cognitive performance is compromised in Neurofibromatosis type 1 (NF1) patients, but neuropsychological data including elderly NF1 are extremely sparse. We compared the cognitive performance of a small elderly NF1 group (n = 5) with an age-matched healthy control group (n = 49). NF1 group performed worse than control group on a global cognitive impairment task, verbal working memory, and visuospatial functioning. The results suggest that cognitive impairment is an important feature of NF1 across lifespan, including elderly individuals. Future studies approaching the NF1 cognitive profile might benefit from looking at the mechanisms linked to the age-related aspects of cognitive decline.
Assuntos
Neurofibromatose 1/psicologia , Idoso , Estudos de Casos e Controles , Função Executiva , Feminino , Humanos , Masculino , Memória de Curto Prazo , Pessoa de Meia-IdadeRESUMO
Type 1 Neurofibromatosis (NF1) is a disease with diverse manifestations. Few studies have addressed the psychological aspects associated with it from the perspective of those who have NF1 or their relatives. In this study 46 subjects were interviewed, 28 people with NF1 (Group P) and 18 relatives (Group F) seeking to identify the understanding of the day-to-day reality experienced by these two groups and possible distinctions between them, based on the social representations of each group. Data analysis was conducted using Classic Content Analysis. The respondents' answers were organized into categories and subcategories based on their meanings. The results revealed that the quantitative distribution of the categories had similar frequencies for both groups. However, important qualitative differences were observed in terms of the meanings of the answers. Difficulty in obtaining information about NF1 along with few references about social support networks by people with the disease or their family members contributed to the identification of a veil of social invisibility around NF1. These aspects highlight the need for greater investment in research and intervention related to NF1 in order to expand the social coping conditions for those afflicted with the disease.
Assuntos
Atitude Frente a Saúde , Neurofibromatose 1 , Percepção Social , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
Pulmonary complications are important cause of mortality and morbidity after hematopoietic stem cell transplantation, in 30% to 60% of the patients. Improvements in prophylaxis and treatment of infectious complications have been increasing the rate of non-infectious complications. Early diagnosis and treatment of those complications can significantly change the evolution of hematopoietic stem cell transplantation receptors. The objective of this study is to review the most frequent non-infection complications associated to hematopoietic stem cell transplantation since the first bone marrow transplantation performed in 1957. A systematic literature review was performed, using the PICO strategy to ask the questions. The descriptors hematopoietic stem cell transplantation, non-infectious pulmonary complications, systematic review, in portuguese and their english correspondents, were used to access the following databases: MEDLINE, EBM, Embase, Cocrane Library, LILACS and SciELO. In this review, 263 studies were identified, from which 31 were selected for full analyzis. The non-infection pulmonary complications most frequently found were: bronchiolitis obliterans, bronchiolitis obliterans organizing pneumonia, pulmonary edema, idiopathic pneumonia syndrome, delayed pulmonary toxicity syndrome, diffuse alveolar hemorrhage, engrafment syndrome and pulmonary cytolitic thrombi.
Assuntos
Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Pneumopatias/etiologia , Algoritmos , Bronquiolite Obliterante/etiologia , Humanos , Pneumopatias/diagnóstico , Pneumopatias/terapiaRESUMO
OBJECTIVE: To analyze the spirometry findings in patients undergoing bone marrow transplant, determining the importance of such findings in predicting postoperative pulmonary complications and looking for correlations with postoperative outcomes. METHODS: The spirometry findings in 120 male and female patients, all above the age of 12, were evaluated retrospectively and compared in terms of the following parameters: the type of bone marrow transplant; the underlying disease; cytomegalovirus serology; source of the transplanted cells; smoking; pulmonary infection; history of lung disease; duration of the hematological disease; chemotherapy employed; conditioning regimen; acute or chronic rejection of the transplant; and post-operative mortality. RESULTS: In the pre-operative spirometry, 16 patients (13.3%) presented alterations: 6 (5%) presented pure obstruction; 7 (5.8%) presented pure restriction; and 3 (2.5%) presented obstruction accompanied by a reduction in vital capacity. In the post-operative spirometry, 29 patients (24.2%) presented alterations. The chance of presenting post-operative spirometry alterations was greater in patients presenting acute transplant rejection (p = 0.02), patients older than 30 (p = 0.02), female patients (p = 0.02) and patients receiving stem cells (p = 0.01). Having a history of lung disease was found to be associated with greater mortality, as was suffering from chronic transplant rejection. No relationship was found between pre-operative spirometry alterations and post-operative mortality. CONCLUSION: In bone marrow transplant patients, the alterations found through pre-operative spirometry were not predictive of post-operative pulmonary complications or mortality. Nor were such alterations determinant of whether or not a given patient was a good candidate for bone marrow transplant. Simple spirometry seems to be of little practical importance in the evaluation of such patients.