Combined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in pompe disease.

Introduction: Pompe disease is a rare, lysosomal disorder, characterized by intra-lysosomal glycogen accumulation due to an impaired function of α-glucosidase enzyme. The laboratory testing for Pompe is usually performed by enzyme activity, genetic test, or urine glucose tetrasaccharide (Glc4) screening by HPLC. Despite being a good preliminary marker, the Glc4 is not specific for Pompe.

Untargeted LC-HRMS metabolomics reveals candidate biomarkers for mucopolysaccharidoses.

Background: Mucopolysaccharidoses (MPSs) are inherited genetic diseases caused by an absence or deficiency of lysosomal enzymes responsible for catabolizing glycosaminoglycans (GAGs). Undiagnosed patients, or those without adequate treatment in early life, can be severely and irreversibly affected by the disease. In this study, we applied liquid chromatography-high resolution mass spectrometry (LC-HRMS)-based untargeted metabolomics to identify potential biomarkers for MPS disorders to better understand how MPS may affect the metabolome of patients.

Comparative analysis of sleep patterns and attention components in high school and college adolescents.

Adolescence is a phase with physiological and behavioral changes. One of them occurs in the sleep-wake cycle pattern, manifested by a phase delay. However, morning school start time can decrease sleep duration during weekdays, impairing adolescent cognitive performance and well-being.

[Human papillomavirus vaccine receptivity: a systematic reviewReceptividad con respecto a la vacuna contra el virus del papiloma humano: revisión sistemática].

Objective: To characterize the receptivity to human papillomavirus (HPV) vaccine and to describe factors that hinder or facilitate receptivity.

Method: A systematic review was performed based on the 2015 PRISMA protocol. MEDLINE and Web of Science were searched using combinations of the terms papillomavirus, vaccine, adherence, and acceptance to identify articles published from 2006 to 2017.

Safety culture in the operating room of a public hospital in the perception of healthcare professionals.

Objective: To evaluate the perception of healthcare professionals about the safety culture in the operating room of a public hospital, large-sized, according to the domains of the Safety Attitudes Questionnaire (SAQ).

Method: Descriptive, cross-sectional and quantitative research, with the application of the SAQ to 226 professionals. Descriptive data analysis, instrument consistency and exploratory factor analysis.

Plasma volume expanders: use in medicine and detecting misuse in sports.

Plasma volume expanders comprise a heterogeneous group of substances used in medicine that are intravenously administered in cases of great blood loss owing to surgery or medical emergency. These substances, however, can also be used to artificially enhance performance of healthy athletes in sport activities, and to mask the presence of others substances. These practices are considered doping, and are therefore prohibited by the International Olympic Committee and the World Antidoping Agency.

Fumaric aciduria: an overview and the first Brazilian case report.

Fumaric aciduria is a rare metabolic disease, with 40 cases reported so far. Fumarase deficiency leads mainly to brain abnormalities, developmental delay, and great accumulation of fumaric acid in urine. This work presents the first case of fumaric aciduria described in Brazil, which presented with some interesting clinical and biochemical findings such as colpocephaly, hepatic alterations, and marked metabolic acidosis since birth.

Counseling brazilian undergraduate students: 17 years of a campus mental health service.

Objective: The authors reviewed demographic and clinical characteristics of undergraduates at a Brazilian public university (UNICAMP) who visited the campus mental health service (SAPPE) and compared their demographics with those from all undergraduate students enrolled in the university.

Participants: The authors looked at data from all undergraduates who sought counseling or mental health care at SAPPE over a 17-year period (N = 2,203; 1987-2004).

Methods: They obtained this information from clinical charts and a UNICAMP database.

Screening for hydroxyethyl starch (HES) doping in sport.

The artificial colloid hydroxyethyl starch (HES) is among the most frequently used plasma volume expanders in the medical field. However, in 1998, its misuse by the athletic community was officially reported and since 2000, HES is prohibited by the International Olympic Committee (IOC). Therefore, several methods enabling the detection of HES in urine were developed, most based on gas chromatography-mass spectrometry (GC-MS).

Chemopreventive property of dietary ginger in rat urinary bladder chemical carcinogenesis.

The modifying potential of ginger on the development of preneoplasia and tumors in the male Wistar rat urinary bladder was investigated in a 36-week-long initiation-promotion assay for chemical carcinogenesis. Groups G1 to G3 were given 0.05% N-butyl-N-(4-hydroxybutyl)-nitrosamine (BBN) in drinking water for 5 weeks and a 3% uracil meal for the subsequent 3 weeks.

A survey on inborn errors of metabolism in 323 neonates from the state of Rio de Janeiro, Brazil.

Inborn errors of metabolism (IEM) are a relevant cause of morbidity and death among children, and neonates in particular. However, little is known about the prevalence of these disorders in Brazilian newborns. Our laboratory of IEM (LABEIM) at the Department of Biochemistry, Institute of Chemistry, Federal University of Rio de Janeiro (UFRJ), has been working on the diagnosis of IEM since 1988.

Effects of fasting and intermittent fasting on rat hepatocarcinogenesis induced by diethylnitrosamine.

The influences of fasting on DEN-initiation and of intermittent fasting (IF) on the rat liver chemical carcinogenesis process were evaluated in a 52-week long assay. Three groups of adult male Wistar rats were used: Groups 1 to 3 were treated with a single i.p.