Priscila Cristina da Silva

Absence of mutations in Pax6 gene in three cases of Morning Glory syndrome associated with isolated growth hormone deficiency

Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele and hypopituitarism. Clinical signs are varied and often occult. The PAX6 gene is involved in ocular morphogenesis and is expressed in numerous ocular tissues during development especially in the developing central nervous system. The aim of the present study is to evaluate PAX6 in MGS associated with isolated growth hormone deficiency. Three pre-pubertal males (A, B and C) with MGS and short stature due to growth hormone deficiency, treated with recombinant human growth hormone with limited response, were reported. Two of them had basal encephalocele. Coding and non-coding sequences corresponding of PAX6 different transcripts were analyzed by direct sequencing. Nucleotide variations causing putative aminoacid change were not observed. Patient A presented the new IVS2+9G>A transition, whereas patients A and C were heterozygous for known single nucleotide polymorphisms (SNP) within the intron 4. In addition, two SNP heterozygoses were observed for patient C in both intron 9 and 13. Sequencing also revealed several nucleotide variations in patient B. Two heterozygoses for known polymorphisms were identified along with a novel C>A nucleotide change in intron 4. This patient also presented a low number on the TG repeat in intron 9 and a new IVS11+33A>T transversion. Gene regulation and transcription of PAX6 are complex processes; there are two major protein isoforms, PAX6(-5a) and PAX6(+5a), and nine transcripts described. Furthermore, extra transcription regulatory elements have been postulated within PAX6 introns. Considering that neither population distributions on PAX6 polymorphism nor their linkeages with diseases have been reported, a functional effect due to alterations described here cannot be discarded.

Dietary leucine supplementation minimises tumour-induced damage in placental tissues of pregnant, tumour-bearing rats

BackgroundThe occurrence of cancer during pregnancy merges two complex, poorly understood metabolic and hormonal conditions. This association can exacerbate the conditions of both the mother and the foetus. The branched-chain amino acid leucine enhances cellular activity, particularly by increasing protein synthesis. This study aimed to analyse the modulatory effect of a leucine-rich diet on direct and indirect tumour-induced placental damage. This was accomplished by evaluating the expression of genes involved in protein synthesis and degradation and assessing anti-oxidant enzyme activity in placental tissues collected from pregnant, tumour-bearing rats.ResultsPregnant rats were either implanted with Walker 256 tumour cells or injected with ascitic fluid (to study the indirect effects of tumour growth) and then fed a leucine-rich diet. Animals in a control group underwent the same procedures but were fed a normal diet. On the 20th day of pregnancy, tumour growth was observed. Dams fed a normoprotein diet showed the greatest tumour growth. Injection with ascitic fluid mimicked the effects of tumour growth. Decreased placental protein synthesis and increased protein degradation were observed in both the tumour-bearing and the ascitic fluid-injected groups that were fed a normoprotein diet. These effects resulted in low placental DNA and protein content and high lipid peroxidation (measured by malondialdehyde content). Decreased placental protein synthesis-related gene expression was observed in the tumour group concomitant with increased expression of genes encoding protein degradation-associated proteins and proteolytic subunits.ConclusionsConsumption of a leucine-rich diet counteracted the effects produced by tumour growth and injection with ascitic fluid. The diet enhanced cell signalling, ameliorated deficiencies in DNA and protein content, and balanced protein synthesis and degradation processes in the placenta. The improvements in cell signalling included changes in the mTOR/eIF pathway. In conclusion, consumption of a leucine-rich diet improved placental metabolism and cell signalling in tumour-bearing rats, and these changes reduced the deleterious effects caused by tumour growth.

Uroanalysis of Wistar, Wistar Kyoto and Spontaneous Hypertensive Rats

Uroanalysis reveals information about metabolic, hepatic, and renal function as well as indications of the dysfunction etiology. It is a simple, practical and quick method to perform analysis of the biochemical urine constituents by markers in reagent strips. In this study, we evaluated the urine of Wistar, Wistar Kyoto (WKY) and spontaneously hypertensive rats (SHR). Uroanalysis of WKY and SHR rats indicated ketosis and increased protein presence than Wistar. The WKY and SHR urine was more diluted than Wistar. Only the WKY presented haemolysis. The results indicate absence of hepatic dysfunction and infections in the urine of the different strains of rats. Ketonuria corroborates with the fasting rat’s state, hematuria is an indicative of the urinary system dysfunction and proteinuria specifically refers to renal dysfunction, these are related to high WKY weight and SHR hypertension. Dilution of urine may be related to hydroelectrolytic imbalance due to changes in the HPA axis presented by WKY and SHR.

Relationship between psychosocial stress, resilience, sleep quality and somnolence in undergraduate pharmacy students

Psychosocial stress, poor quality of sleep and lack of resilience are some of the biggest challenges society have to face nowadays and it is no different for undergraduated students. Those factors can affect their academic performance, health and also their life outside the university. We aimed to correlate the effects of acute psychosocial stress, and its implications on sleep quality, resilience and somnolence in undergraduate pharmacy students.

Manual therapy program induced alterations in autonomic nervous system modulation of students preparing to apply for the universities: One-group, pre- and post-test study

OBJECTIVES: We aimed to appraise the effects of a manual therapy program (MTP) on stress by modulation of autonomic nervous system evaluated by rate heart variability before and after the treatment. METHODS: The study design used was quasi-experimental, pre-post-test of MTP. The sessions were applied during 45 min, twice a week, for 9 weeks. Psychological stress was evaluated using adolescents stress questionnaire (ASQ). Beat-to-beat rate heart frequency (HR, bpm) were recorded in 16 young healthy volunteers (19-20 years old; 8 women) 15 min before and after the first and the last session with S810i - Polar® -Finland in supine position. Descriptors of the Poincare plot and time domain of HR variability (HRV) were analyzed in 5 min (Kubios HRV Analysis Software). STATISTICAL ANALYSIS: ANOVA followed Tukey or Bonferroni and t Student tests paired and unpaired tests, considering p<0.05 as significant. RESULTS: MTP reduced ASQ values from 143 ± 8 to 114 ± 6 and HR from 81+4 to 71+2 bpm. Significantly effects were also found post-MTP in HRV time domain, analyzed at linear and geometric way, sowing an overall increased on parasympathetic tonus and on global activity of heart. CONCLUSION: The students enrolled in the MTP showed improved psychological and physiological health status from pre to post-treatment and the increased on parasympathetic tonus and in the global activity of heart contributed to this effect.

Fibromyalgia and vibratory platform exercise: Cortisol improvement and women´s quality of life

OBJECTIVES: The main objective of this pilot study was to evaluate the effects of an exercise protocol, using vibratory platform, in quality of life and the cortisol rhythmicity in fibromyalgic women. METHODS: Twenty women, which 10 were healthy and 10 were diagnosed with fibromyalgia. All of them performed an exercise program on a vibratory platform and were evaluated for salivary cortisol production throughout the day before and after the treatment. The volunteers with fibromyalgia were also evaluated with a specific questionnaire for quality of life before and after the treatment. Salivary samples were collected at 6 a.m., noon, 6 p.m. and before bedtime, 10 p.m. Cortisol was quantified using immunoenzymatic assay. RESULTS: Women with fibromyalgia improved their quality of life and started to have an adjustment in the cortisol rhythmicity after exercise. Even considering the limitations of the volunteers’ number who participated in this pilot, a relationship between the improvement of the quality of life and the adjustment in the cortisol rhythmicity produced by the exercise program practiced could be assumed.

Analysis of acute and chronic stress by quantification of cortisol in saliva and hair, BDNF in saliva and analysis of Val66Met the BDNF polymorphism in graduating: announcement of a pilot study

Cortisol is considered as the stress hormone. BDNF is involved in plasticity, including memory, learning and sleep. The hair cortisol assess chronic stress. Our goals are the standardization of cortisol quantification techniques in hair (chronic), BDNF in saliva and the polymorphism identification in this population.