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- Pelletier, F., et al.
(författare)
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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
- 2021
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Ingår i: Journal of Clinical Endocrinology & Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 106:2
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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| 3. |
- Brožová, Helena, et al.
(författare)
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Information security management : ANP based approach for risk analysis and decision making
- 2016
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Ingår i: Agris On-line Papers in Economics and Informatics. - : Ceska zemedelska univerzita v Praze. - 1804-1930. ; 8:1, s. 13-23
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Tidskriftsartikel (refereegranskat)abstract
- In information systems security, the objectives of risk analysis process are to help to identify new threats and vulnerabilities, to estimate their business impact and to provide a dynamic set of tools to control the security level of the information system. The identification of risk factors as well as the estimation of their business impact require tools for assessment of risk with multi-value scales according to different stakeholders' point of view. Therefore, the purpose of this paper is to model risk analysis decision making problem using semantic network to develop the decision network and the Analytical Network Process (ANP) that allows solving complex problems taking into consideration quantitative and qualitative data. As a decision support technique ANP also measures the dependency among risk factors related to the elicitation of individual judgement. An empirical study involving the Forestry Company is used to illustrate the relevance of ANP.
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