Evolution of adrenoleukodystrophy model systems.

X-linked adrenoleukodystrophy (ALD) is a neurometabolic disorder affecting the adrenal glands, testes, spinal cord and brain. The disease is caused by mutations in the ABCD1 gene resulting in a defect in peroxisomal degradation of very long-chain fatty acids and their accumulation in plasma and tissues. Males with ALD have a near 100% life-time risk to develop myelopathy. The life-time prevalence to develop progressive cerebral white matter lesions (known as cerebral ALD) is about 60%. Adrenal insufficiency occurs in about 80% of male patients. In adulthood, 80% of women with ALD also develop myelopathy, but adrenal insufficiency or cerebral ALD are very rare. The complex clinical presentation and the absence of a genotype-phenotype correlation are complicating our understanding of the disease. In an attempt to understand the pathophysiology of ALD various model systems have been developed. While these model systems share the basic genetics and biochemistry of ALD they fail to fully recapitulate the complex neurodegenerative etiology of ALD. Each model system recapitulates certain aspects of the disorder. This exposes the complexity of ALD and therefore the challenge to create a comprehensive model system to fully understand ALD. In this review, we provide an overview of the different ALD modeling strategies from single-celled to multicellular organisms and from in vitro to in vivo approaches, and introduce how emerging iPSC-derived technologies could improve the understanding of this highly complex disorder.

Integrating Mindfulness into the Subject of Physical Education-An Opportunity for the Development of Students' Mental Health.

Stress, uncertainty, and the abuse of technologies are components that have a negative impact on the physical, social, and psychological health of young people. One of the aims of the Education for Sustainable Development (ESD) is to empower individuals to reflect on their actions, and mindfulness arises as one tool with an important potential to contribute on this matter. Therefore, the objective of this study was to assess the effects of mindfulness practices on the ability of students to focus their attention on external, internal or kinesthetic factors, awareness in acting, and acceptance. Consequently, a quasi-experimental study was developed to compare groups between the pre and post condition. The study participants were a total of 127 students (52 women) from 4th year of secondary school and 1st year of a achelor's degree (16.5 ± 1.5 years). The sample was assigned by academic convenience, with 54 students in the experimental group and 73 in the control group. The intervention was carried out for 4 weeks. During this period, the experimental group participated in mindfulness activities such as guided meditations at the end of the PE session or challenges that stimulated the student in daily actions. The control group continued with the planned programming in physical education class. These groups were subjected to the following test: (1) Mindfulness for School Scale (MSS) and (2) Child and Adolescent Mindfulness Measure (CAMM). To analyze the results, the normality of the sample was evaluated through the Mann-Whitney U test, resulting as non-parametric. The search for possible differences between the groups was carried out by using the Wilcoxon test. The statistics showed that the experimental group presented significant improvements (p ≤ 0.05) in most of the measured parameters: external attention, kinesthetics attention, and mean of the CAMM. These results seem to show that the use of mindfulness could be an appropriate tool to be implemented in the school context in order to directly contribute to the mental health of high school students, and thus to an education for the sustainable development.

Pediatric minor head trauma: do cranial CT scans change the therapeutic approach?

OBJECTIVES:: 1) To verify clinical signs correlated with appropriate cranial computed tomography scan indications and changes in the therapeutic approach in pediatric minor head trauma scenarios. 2) To estimate the radiation exposure of computed tomography scans with low dose protocols in the context of trauma and the additional associated risk. METHODS:: Investigators reviewed the medical records of all children with minor head trauma, which was defined as a Glasgow coma scale ≥13 at the time of admission to the emergency room, who underwent computed tomography scans during the years of 2013 and 2014. A change in the therapeutic approach was defined as a neurosurgical intervention performed within 30 days, hospitalization, >12 hours of observation, or neuro-specialist evaluation. RESULTS:: Of the 1006 children evaluated, 101 showed some abnormality on head computed tomography scans, including 49 who were hospitalized, 16 who remained under observation and 36 who were dismissed. No patient underwent neurosurgery. No statistically significant relationship was observed between patient age, time between trauma and admission, or signs/symptoms related to trauma and abnormal imaging results. A statistically significant relationship between abnormal image results and a fall higher than 1.0 meter was observed (p=0.044). The mean effective dose was 2.0 mSv (0.1 to 6.8 mSv), corresponding to an estimated additional cancer risk of 0.05%. CONCLUSION:: A computed tomography scan after minor head injury in pediatric patients did not show clinically relevant abnormalities that could lead to neurosurgical indications. Patients who fell more than 1.0 m were more likely to have changes in imaging tests, although these changes did not require neurosurgical intervention; therefore, the use of computed tomography scans may be questioned in this group. The results support the trend of more careful indications for cranial computed tomography scans for children with minor head trauma.