Reduced bone mineral content and density in neurofibromatosis type 1 and its association with nutrient intake.

BACKGROUND Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease characterized by multisystem involvement including low bone mineral density (BMD). OBJECTIVE To assess the bone phenotype of individuals with NF1 and verify its association with nutrient intake. METHODS Twenty-six adults with NF1 underwent bone phenotype assessments using dual-energy X-ray absorptiometry (DXA) and food intake evaluations.

Increased resting metabolism in neurofibromatosis type 1.

Background & Aims: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease that is characterized by neurocutaneous changes with multisystem involvement. A previous study with adults with NF1 revealed that changes in total energy expenditure were related to food consumption and body composition. Resting energy expenditure (REE), a measure of energy that the body expends to maintain vital functions, has not been assessed in NF1 populations.

Amusia and its electrophysiological correlates in neurofibromatosis type 1.

Introduction: Auditory processing deficits are common in people with neurofibromatosis type 1 (NF1) and they often report difficulties in musical performance.

Objective: We investigated whether NF1 could be associated with amusia as well as with some impairment of primary auditory cortex activity.

Methods: Eighteen people with NF1 and 22 healthy volunteers, matched for age, sex and educational level, were evaluated with the Montreal Battery Evaluation of Amusia - short version.

Increased insulin sensitivity in individuals with neurofibromatosis type 1.

Objects To compare insulin resistance (IR) and metabolic aspects of patients with neurofibromatosis type 1 (NF1) and individuals without the disease. Subjects and methods Forty patients with NF1 were matched by sex, age, and body mass index (BMI) to 40 controls from the community. Blood samples were collected for biochemical assessment.

Increased N200 and P300 latencies in cognitively impaired elderly carrying ApoE ε-4 allele.

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.

Advanced dementia in a sample of Brazilian elderly: Sociodemographic and morbidity analysis.

Introduction:: To investigate the sociodemographic and morbidity profile of advanced dementia patients and sociodemographic data of their primary caregivers.

Method:: Data was obtained from 67 elderly recruited for an observational prospective study, through interviews performed with primary caregivers. For statistical analysis, the Statistical Package for the Social Sciences (SPSS(r)) for Windowsr, version 19.

Lower fasting blood glucose in neurofibromatosis type 1.

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.

Neurofibromatosis: part 2--clinical management.

Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients.

Nutrient intake in neurofibromatosis type 1: A cross-sectional study.

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.

Neuropsychological impairments in elderly Neurofibromatosis type 1 patients.

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.

Auditory temporal processing deficits and language disorders in patients with neurofibromatosis type 1.

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.

[Social representations of patients and relatives regarding Type 1 Neurofibromatosis].

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.

Chronic diseases, cognition, functional decline, and the Charlson index in elderly people with dementia.

Objective: To assess the association between chronic degenerative diseases and functional decline, cognition, and mortality prediction.

Methods: A cross-sectional study was conducted in a geriatrics service in Belo Horizonte, Brazil, involving 424 patients subdivided into two groups: control and dementia. The study analyzed socio-demographic and environmental data, chronic degenerative diseases, the Charlson index, and data on functional and cognitive dementia.

Occurrence of complications and survival rates in elderly with neurological disorders undergoing enteral nutrition therapy.

Objective: To evaluate the occurrence of complications, as well as the survival rates, in elderly people having neurological diseases and undergoing enteral nutrition therapy (ENT).

Methods: Patients aged over 60 years, assisted by a home medical service from a healthcare plan in the city of Belo Horizonte, MG, Brazil, were thoroughly evaluated. The mentioned evaluation occurred at their homes after hospital discharge with enteral nutrition (EN) after a three-month period, a six-month period, and at the end of the study.

Spirometry with bronchodilator test: effect that the use of large-volume spacers with antistatic treatment has on test response.

Objective: To evaluate whether the use of inhaled albuterol via a metered-dose inhaler with a large-volume spacer with antistatic treatment modifies the bronchodilator test results when compared with the usual technique (no spacer).

Methods: A prospective study involving 24 patients, 18-45 years of age, clinically suspected of having asthma, and under treatment at the Outpatient Pulmonary Clinic of the Federal University of Minas Gerais Hospital das Clínicas, located in the city of Belo Horizonte, Brazil. All of the patients underwent two bronchodilator tests: one with and one without the use of a large-volume spacer.

Hematopoietic stem cell transplantation: pulmonary function tests and post-transplant mortality.

Objective: To determine whether the results of pulmonary function tests carried out in patients subsequently submitted to hematopoietic stem cell transplantation (HSCT) are associated with post-HSCT mortality.

Methods: This was a prospective study involving patients older than 15 years of age who were submitted to allogenic HSCT between January of 2007 and March of 2008 at the Hospital das Clínicas da Universidade Federal de Minas Gerais, located in the city of Belo Horizonte, Brazil. Prior to HSCT, all of the patients underwent spirometry, determination of lung volumes, and determination of DLCO.

[Non-infectious pulmonary complications after the hematopoietic stem cell transplantation].

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.

Scintigraphy for the detection of myocardial damage in the indeterminate form of Chagas disease.

Background: Non-invasive cardiological methods have been used for the identification of myocardial damage in Chagas disease.

Objective: To verify whether the rest/stress myocardial perfusion scintigraphy is able to identify early myocardial damage in the indeterminate form of Chagas disease.

Methods: Eighteen patients with the indeterminate form of Chagas Disease and the same number of normal controls, paired by sex and age, underwent rest/stress myocardial scintigraphy using sestamibi-99mTc, aiming at detecting early cardiac damage.

[Neurofibromatosis type 1: more frequent and severe then usually thought].

Objective: To study prevalence of clinical features among Brazilian patients diagnosed with neurofibromatosis type 1(NF1), comparing these features with international data to evaluate the severity and visibility of the disease and quantify less frequent manifestations such as short stature, macrocephaly, muscle strength, voice abnormalities and oral motor disorders.

Methods: 183 patients diagnosed with NF1, attended at the Neurofibromatosis Outpatient Reference Center, were evaluated for clinical manifestations and complications of NF1. Severity and visibility were verified using the Riccardi and Ablon scales respectively.

[Retiree quality of life assessment with SF-36 questionnaire].

Objective: Increase of the elderly in the Brazilian population demands assessment of aspects that interfere with the retirees' quality of life.

Methods: The Brazilian version of SF-36 questionnaire was applied to 87 retirees at their homes. Data on quality of life was associated with demographic data, socioeconomic status, health conditions and life style.

Right ventricular wall "ischemia" findings using a dual isotope protocol.

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.

Pre-operative and post-operative spirometry in bone marrow transplant patients.

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.