71 research outputs found

    Recent advances of metabolomics in plant biotechnology

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    Biotechnology, including genetic modification, is a very important approach to regulate the production of particular metabolites in plants to improve their adaptation to environmental stress, to improve food quality, and to increase crop yield. Unfortunately, these approaches do not necessarily lead to the expected results due to the highly complex mechanisms underlying metabolic regulation in plants. In this context, metabolomics plays a key role in plant molecular biotechnology, where plant cells are modified by the expression of engineered genes, because we can obtain information on the metabolic status of cells via a snapshot of their metabolome. Although metabolome analysis could be used to evaluate the effect of foreign genes and understand the metabolic state of cells, there is no single analytical method for metabolomics because of the wide range of chemicals synthesized in plants. Here, we describe the basic analytical advancements in plant metabolomics and bioinformatics and the application of metabolomics to the biological study of plants

    Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

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    CONTEXT: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. OBJECTIVE: To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. DESIGN: An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated. SETTING: This was a multicenter retrospective study using information collected from 3 predominant centers. PATIENTS: A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included. MAIN OUTCOME MEASURES: Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts. RESULTS: The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients. CONCLUSIONS: Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder

    Gender difference in the prevalence of burnout syndrome among third year students of De La Salle Health Sciences Institute-College of Medicine, A.Y. 2015-2016

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    Analytic, cross-sectional study was employed by the researchers. The total population of the third year medical students was 278 and of which 162 were female and 116 were male. The respondents were identified using stratified random sampling. A self-administered questionnaire of MBI-SS was utilized in collecting the data. The data was then analyzed using t-test and chi-square. Study showed that majority were positive for burnout syndrome, but although a high percentage of respondents were found to be burnout, the results of this research suggests that there was no significant gender difference in the prevalence of burnout syndrome among the third year medical students of De La Salle Health Sciences Institute. This indicated the level of coping or stress management was the same between the two genders, or that the third year of medical school was stressful enough to cause burnout syndrome among students regardless of their gender. This could mean that coping mechanisms from either gender was not the problem nor were the cofounders stated but could be assumed to be due to academic load alone. The study showed that majority of the participants scored high in the professional efficacy despite also having high scores in exhaustion and cynicism. This may indicate that there was a good coping mechanism among the participants despite the heavy workload in the third year of medical school. However, this may be alarming since they were being cynical about their studies and could also be the same in the future towards their patients
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