Rare diseases: What rheumatologists need to know?

Although the terms "rare diseases" (RD) and "orphan diseases" (OD) are often used interchangeably, specific nuances in definitions should be noted to avoid misconception. RD are characterized by a low prevalence within the population, whereas OD are those inadequately recognized or even neglected by the medical community and drug companies. Despite their rarity, as our ability on discovering novel clinical phenotypes and improving diagnostic tools expand, RD will continue posing a real challenge for rheumatologists.

Exploring the effects of COVID-19-related traumatic events on the mental health of university students in Brazil: A cross-sectional investigation.

University students are vulnerable to mental health issues during their academic lives. During the COVID-19 pandemic, university students faced mental distress due to lockdowns and the transition to e-learning. However, it is not known whether these students were also affected specifically by COVID-19-related traumatic events.

Incidence of bradycardia during noradrenaline or phenylephrine bolus treatment of postspinal hypotension in cesarean delivery: A randomized double-blinded controlled trial.

The treatment of choice for spinal anesthesia-induced hypotension during cesarean section is phenylephrine. As this vasopressor can cause reflex bradycardia, noradrenaline is a suggested alternative. This randomized double-blinded controlled trial included 76 parturients undergoing elective cesarean delivery under spinal anesthesia.

Performance of subjective global nutritional assessment in predicting clinical outcomes: Data from the Brazilian survey of pediatric oncology nutrition.

Background: Methods for assessing nutritional status in children and adolescents with cancer is a difficult in clinical practice. The study aimed to evaluate the performance of Subjective Global Nutritional Assessment (SGNA) in predicting clinical outcomes in children and adolescents with cancer in Brazil.

Methods: This was a prospective cohort multicenter study.

Spatial analysis of the incidence of Dengue, Zika and Chikungunya and socioeconomic determinants in the city of Rio de Janeiro, Brazil.

In 2015-2016, simultaneous circulation of dengue, Zika and chikungunya in the municipality of Rio de Janeiro (Brazil) was reported. We conducted an ecological study to analyse the spatial distribution of dengue, Zika and chikungunya cases and to investigate socioeconomic factors associated with individual and combined disease incidence in 2015-2016. We then constructed thematic maps and analysed the bivariate global Moran indices.

Effect of pretreatment with magnesium sulphate on the duration of intense and deep neuromuscular blockade with rocuronium: A randomised controlled trial.

Background: Magnesium sulphate is an important adjuvant drug in multimodal anaesthesia. In combination with rocuronium it can enhance neuromuscular blockade (NMB). Limited data exist concerning the effect of magnesium sulphate on the duration of deep or intense NMB and the period of no response.

Patterns of C-reactive protein ratio response to antibiotics in pediatric sepsis: A prospective cohort study.

Purpose: Evaluate sequential C-reactive protein (CRP) measurements and patterns of CRP-ratio response to antibiotic therapy during first 7days in Pediatric Intensive Care Unit (PICU) of septic children.

Methods: Prospective, cohort study of children (1month-12years) admitted at 3 PICUs, with diagnosis of sepsis with <72h course. CRP-ratio was calculated in relation to D0_CRP value.

Spatial-temporal dynamics and sources of total Hg in a hydroelectric reservoir in the Western Amazon, Brazil.

Damming rivers to construct hydroelectric reservoirs results in a series of impacts on the biogeochemical Hg cycle. For example, modifying the hydrodynamics of a natural watercourse can result in the suspension and transport of Hg deposits in the water column, which represents an exposure risk for biota. The objective of this study was to evaluate the influences of seasonality on the dispersion of total Hg in the Hydroelectric Power Plant (HPP)-Samuel Reservoir (Porto Velho/Brazil).

Aqueous Molecular Dynamics Simulations of the M. tuberculosis Enoyl-ACP Reductase-NADH System and Its Complex with a Substrate Mimic or Diphenyl Ethers Inhibitors.

Molecular dynamics (MD) simulations of 12 aqueous systems of the NADH-dependent enoyl-ACP reductase from Mycobacterium tuberculosis (InhA) were carried out for up to 20-40 ns using the GROMACS 4.5 package. Simulations of the holoenzyme, holoenzyme-substrate, and 10 holoenzyme-inhibitor complexes were conducted in order to gain more insight about the secondary structure motifs of the InhA substrate-binding pocket.

Effect of magnesium sulphate on sugammadex reversal time for neuromuscular blockade: a randomised controlled study.

Magnesium potentiates neuromuscular blockade. Sugammadex reverses rocuronium-induced blockade. The aim of this study was to determine the effect of pre-treatment with magnesium sulphate on sugammadex reversal time for neuromuscular blockade.

A forensic-psychiatric study of sexual offenders in Rio de Janeiro, Brazil.

Sexual violence is defined as any sexual act forced upon a person who did not give his or her consent. Our objective is to investigate the socio-demographic features, clinical correlates, criminal behaviour characteristics, and the level of penal responsibility of sexual offenders who were referred to forensic psychiatric assessment in the city of Rio de Janeiro, Brazil. This is a cross-sectional descriptive study.

HPV DNA genotyping and methylation of gene p16 INK4A in cervical LSIL.

Background: DNA methylation is the most important epigenetic change involved in the control of gene expression in human cells. Methylation of the p16(INK4a) gene occurs early in the development of cervical cancer. Low-grade squamous intraepithelial lesions (LSILs) are prevalent, and their behavior is variable.

Enhancing knowledge flow in a health care context: a mobile computing approach.

Background: Advances in mobile computing and wireless communication have allowed people to interact and exchange knowledge almost anywhere. These technologies support Medicine 2.0, where the health knowledge flows among all involved people (eg, patients, caregivers, doctors, and patients' relatives).

Case for diagnosis. Chondroid syringoma.

The chondroid syringoma is a rare benign tumor, also called mixed cutaneous tumor by the presence of epithelial and mesenchymal components, consisting of sweat elements in cartilaginous, collagenous, myxoid or osseous stroma, among others. It mainly affects middle-aged men and is characterized by asymptomatic and slow growing, dermal or subcutaneous nodules. The most common locations are the head and neck.