Natural History of Conversion of Leber's Hereditary Optic Neuropathy: A Prospective Case Series.

Purpose: To illustrate the natural history of Leber's hereditary optic neuropathy (LHON).

Design: Prospective observational case series.

Participants: The Soave-Brazil pedigree of m.

Chronic kidney disease progression: a retrospective analysis of 3-year adherence to a low protein diet.

The potential benefits and dangers of dietary protein restriction in chronic kidney disease (CKD) are still controversial. Thus, the aim of this study is to evaluate the effect of low protein diet (LPD) on the renal function in nondialysis CKD patients. A retrospective study was conducted from 321 nondialysis CKD patient's medical files (65.

Zika virus and Assisted Reproductive Technology: to test or not to test, that is the question. Is it an unnecessary cost? The first two months of mandatory testing in an outbreak area in Rio de Janeiro, Brazil.

Objective: Infection by the Zika virus is a Public Health Emergency of International Concern as defined by the World Health Organization. Resolution no. 72, issued by the Collegiate Board of the Brazilian Health Surveillance Agency (ANVISA) on March 30, 2016, made ZKV testing mandatory prior to procedures involving germ cells and tissues.

Disability and progression in Afro-descendant patients with multiple sclerosis.

Multiple sclerosis (MS) prevalence is higher in Caucasian (CA) populations, narrowing the analysis of the impact of Afro-descendant (AD) populations in disease outcomes. Even so, recent studies observed that AD patients have a more severe course. The main objective of this study is to confirm and discuss, through a systematic review, that being AD is a risk factor for disability accumulation and/or severe progression in patients with MS.

Multiple sclerosis in Brazil: A systematic review.

Background: The natural history of multiple sclerosis (MS) in Brazil has been available in different regions of country. There is no nationwide population-based studies that express general data in Brazil.

Objective: To review and synthesize available data about MS in Brazil.

A review on the diagnosis and treatment of patients with clinically nonfunctioning pituitary adenoma by the Neuroendocrinology Department of the Brazilian Society of Endocrinology and Metabolism.

Clinically nonfunctioning pituitary adenomas (NFPA) are the most common pituitary tumors after prolactinomas. The absence of clinical symptoms of hormonal hypersecretion can contribute to the late diagnosis of the disease. Thus, the majority of patients seek medical attention for signs and symptoms resulting from mass effect, such as neuro-ophthalmologic symptoms and hypopituitarism.

Prognostic factors associated with long-term disability and secondary progression in patients with Multiple Sclerosis.

Background: Predicting the long-term prognosis of patients with multiple sclerosis (MS) remains an uncertain and difficult task, with most data having been obtained exclusively from Caucasian cohorts.

Objective: To investigate clinical prognostic factors in a Brazilian mixed-race cohort.

Methods: Demographic, clinical and therapeutic factors were investigated in 303 patients with relapsing-remitting MS in relation to the following outcomes: time until reaching Expanded Disability Status Scale (EDSS) 3 and EDSS 6, and until secondary progression.

Risk factors for convertion to clinically defined multiple sclerosis after clinically isolated syndrome in a racially mixed Brazilian cohort.

Unlabelled: Clinically isolated syndrome may reflect the first symptom of Multiple Sclerosis. Though more prevalent in Caucasians, MS can also affect Afrodescendts. Modifying disease drugs can delay convertion to clinically defined multiple sclerosis, therefore, identify patients at a higher risk of convertion is important.

Evaluation of treatment with carboxymethylcellulose on chronic venous ulcers.

Background: Among the chronic leg ulcers, venous ulcers are the most common and constitute a major burden to public health. Despite all technology available, some patients do not respond to established treatments. In our study, carboxymethylcellulose was tested in the treatment of refractory chronic venous ulcers.

Siliconoma: Report of Two Cases.

Unlabelled: Injectable silicone has been used illegally for more than 60 years. Siliconoma is the term used to describe a foreign body reaction in the human body caused by the presence of silicone. The aim of this study is to report two cases of patients who underwent application of large volumes of injectable silicone with non-medical and unqualified professionals, which led to serious complications sometime after the procedure.

Delayed-type Necrosis after Soft-tissue Augmentation with Hyaluronic Acid.

The growing use of dermal fillers, specifically the use of hyaluronic acid, can be explained by their effectiveness and versatility as well as their favorable safety profiles. Nevertheless, early and late complications with varying levels of severity may occur. The incidence of complications is low and the majority of adverse events are mild (edema, erythema, and local ecchymosis) and of limited duration.

Prevalence of multiple sclerosis in Brazil: A systematic review.

Epidemiological studies of multiple sclerosis (MS) conducted in Latin America have revealed prevalence rates of this disease from low to medium. The aim of this study was to gather and analyze surveys on prevalence conducted in Brazil, noting its variability in different regions. Systematic review was held in electronic databases and manual search in abstracts concerning ECTRIMS, LACTRIMS and Brazilian Congress of Neurology.

Endocrine abnormalities in ring chromosome 11: a case report and review of the literature.

Unlabelled: Ring chromosomes (RCs) are uncommon cytogenetic findings, and RC11 has only been described in 19 cases in the literature. Endocrine abnormalities associated with RC11 were reported for two of these cases. The clinical features of RC11 can result from an alteration in the structure of the genetic material, ring instability, mosaicism, and various extents of genetic material loss.

Syndrome in question.

Muir-Torre syndrome is a rare genodermatosis characterized by the occurrence of at least one sebaceous tumor associated with visceral neoplasia, but with no predisposing factors. The sebaceous neoplasm may appear before, during or after the diagnosis of colorectal cancer. As it is regarded as a subtype of nonpolyposis hereditary colorectal cancer, it is important to evaluate the patient's first-degree relatives.

Low Frequency of Cardiomyopathy Using Cardiac Magnetic Resonance Imaging in an Acromegaly Contemporary Cohort.

Context: Left ventricular hypertrophy (LVH) and myocardial fibrosis are considered common findings of the acromegaly cardiomyopathy in echocardiography studies.

Objective: To evaluate the frequency of LVH, systolic dysfunction and myocardial fibrosis was undertaken in patients with acromegaly using cardiac magnetic resonance imaging (CMRi) before and after 12 months of octreotide long-acting repeatable treatment.

Patients And Methods: Consecutive patients with active acromegaly submitted to biochemical analysis and CMRi before and after 12 months of treatment.

Bone Mineral Density and Microarchitecture in Patients With Autosomal Dominant Osteopetrosis: A Report of Two Cases.

The aim of this case study is to describe changes in areal bone mineral density (aBMD) by dual-energy X-ray absorptiometry (DXA) scan, as well as volumetric bone density and microarchitecture by high-resolution peripheral quantitative computed tomography (HR-pQCT) in two patients with autosomal dominant osteopetrosis (ADO) and compare with 20 healthy subjects. We describe a 44-year-old male patient with six low-impact fractures since he was age 16 years, and a 32-year-old female patient with four low-impact fractures on her past history. Radiographic changes were typical of ADO.

TET2 expression level and 5-hydroxymethylcytosine are decreased in refractory cytopenia of childhood.

Myelodysplastic syndromes (MDS) are myeloid malignancies characterized by ineffective hematopoiesis, dysplasia, peripheral cytopenia and increased risk of progression to acute myeloid leukemia. Refractory cytopenia of childhood (RCC) is the most common subtype of pediatric MDS and has overlapping clinical features with viral infections and autoimmune disorders. Mutations in TET2 gene are found in about 20-25% of adult MDS and are associated with a decrease in 5-hydroxymethylcytosine (5-hmC) content.

Central Nervous System Idiopathic Inflammatory Demyelinating Disorders in South Americans: A Descriptive, Multicenter, Cross-Sectional Study.

The idiopathic inflammatory demyelinating disease (IIDD) spectrum has been investigated among different populations, and the results have indicated a low relative frequency of neuromyelitis optica (NMO) among multiple sclerosis (MS) cases in whites (1.2%-1.5%), increasing in Mestizos (8%) and Africans (15.

Comprehensive Treatment of Periorbital Region with Hyaluronic Acid.

The periorbital subunit is one of the first facial regions to show signs of aging, primarily due to volume depletion of the soft tissue and bony resorption. Surgical and office-based nonsurgical procedures form an important basis for periorbital rejuvenation. It is important to make a detailed clinical evaluation of the patient to indicate the most appropriate procedure to be performed.

Effectiveness of papain gel in venous ulcer treatment: randomized clinical trial.

Objective: to assess the effectiveness of 2% papain gel compared to 2% carboxymethyl cellulose in the treatment of chronic venous ulcer patients.

Method: randomized controlled clinical trial with 12-week follow-up. The sample consisted of 18 volunteers and 28 venous ulcers.

Low risk of coronary artery disease in patients with acromegaly.

The aims of this study are to determine the prevalence of coronary atherosclerosis in acromegalic patients and to investigate the relationship between the coronary artery calcium score (CS) and acromegaly status and clinical parameters [Framingham risk score (FRS)]. Fifty-six acromegalic patients and paired non-acromegalic volunteers were stratified according to the FRS into low-, intermediate-, and high-risk groups. CS was assessed using multidetector computed tomography.

Ipilimumab-induced hypophysitis: review of the literature.

Purpose: Ipilimumab is a human monoclonal antibody against cytotoxic T-lymphocyte antigen 4 available as an immunotherapy mainly for advanced melanoma. It induces an activation of T cells, resulting in an immune-mediated anti-tumor response and also immune-related adverse events, including hypophysitis. The aim of this review is to identify and discuss features concerning ipilimumab-induced hypophysitis (IIH).

Insulin-like growth factor (IGF)-I, IGF binding protein-3, and prostate cancer: correlation with Gleason score.

Introduction: Non-androgenic growth factors are involved in the growth regulation of prostate cancer (PCa).

Objective: This is the first Brazilian study to correlate, in a population of patients operated for PCa, PSA, total testosterone, insulin-like growth factor-I (IGF-I) and insulin-like growth factor-binding protein-3 (IGFBP-3) with Gleason score and to compare with a control group with benign prostate hyperplasia (BPH).

Materials And Methods: This retrospective single-center study included 49 men with previously diagnosed PCa and 45 with previously diagnosed BPH.

Shiitake dermatitis.

Shiitake Dermatitis is a skin eruption that resembles whiplash marks and occurs after consumption of raw shiitake mushrooms. It is caused by a toxic reaction to lentinan, a thermolabil polysaccharide which decomposes upon heating. We report the second case of this dermatitis in Brazil.

Pituitary tumor management in pregnancy.

The improved management of pituitary adenomas has led to an increasing number of pregnancies in patients harboring pituitary adenomas. Therefore, adequate management of pregnant women with pituitary adenomas is of growing importance. Because pregnancy produces several physiologic changes to the endocrine system, especially to the pituitary gland, endocrinologists must be knowledgeable and skilled to effectively manage pregnant women with pituitary adenomas and to guarantee the wellbeing of the fetus.