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  • 1
    Online Resource
    Online Resource
    Overexpression of miR-652-5p in new onset type 1 diabetes
    VM Media Group sp. z o.o ; 2018
    In:  Clinical Diabetology Vol. 7, No. 4 ( 2018-09-11), p. 189-195
    Details
    In: Clinical Diabetology, VM Media Group sp. z o.o, Vol. 7, No. 4 ( 2018-09-11), p. 189-195
    Type of Medium: Online Resource
    ISSN: 2450-8187 , 2450-7458
    URL: Article
    DOI: 10.5603/DK.2018.0019
    Language: Unknown
    Publisher: VM Media Group sp. z o.o
    Publication Date: 2018
    detail.hit.zdb_id: 2865373-7
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  • 2
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    DataSheet_1.pdf
    Frontiers Media SA ; 2023
    In:  Frontiers in Endocrinology Vol. 14 ( 2023-8-29)
    Details
    In: Frontiers in Endocrinology, Frontiers Media SA, Vol. 14 ( 2023-8-29)
    Abstract: Cystic fibrosis (CF) is a life-threatening inherited disease related to a mutation in the CFTR gene, that leads to serious health complications such as chronic pulmonary infections, pancreatic insufficiency, dysfunction of the sweat glands and reproductive system. For the first time, we have described the profile of corticosterone and androgen metabolites in urine, as well as the activity of enzymes involved in steroid genesis and metabolism in people with CF, using gas chromatography/mass spectrometry. A significant reduction in the excretion of most of the measured metabolites in CF was found. These differences were observed in the group of progestagen metabolites, as well as among metabolites of corticosterone and androgens. We revealed higher activities of 17β-hydroxysteroid dehydrogenase and 17,20-lyase in the Δ4 pathway compared with controls, what can promote the androgen synthesis through the backdoor androgen pathway. We have also found the increased conversion activity of 11-oxyganated steroids by 5a-reductase in backdoor pathway. Levels of the most potent and vital androgens (testosterone and dihydrotestosterone) are comparable in both groups. However, the excretion of dehydroepiandrosterone was lower in CF. Decreased cholesterol lipoprotein levels may contribute to limited intracellular cholesterol supply and reduced adrenal steroidogenesis in CF individuals. Changes in the activity of some steroidogenesis enzymes may suggest the presence of some peripheral adaptive mechanisms in CF to maintain androgen balance in the body despite the limited sufficiency of secretion by the adrenal cortex.
    Type of Medium: Online Resource
    ISSN: 1664-2392
    URL: Article
    URL: Article
    DOI: 10.3389/fendo.2023.1244127
    DOI: 10.3389/fendo.2023.1244127.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2023
    detail.hit.zdb_id: 2592084-4
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  • 3
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    DataSheet_2.docx
    Frontiers Media SA ; 2022
    In:  Frontiers in Endocrinology Vol. 13 ( 2022-12-8)
    Details
    In: Frontiers in Endocrinology, Frontiers Media SA, Vol. 13 ( 2022-12-8)
    Abstract: Cystic fibrosis (CF) is an inherited syndrome associated with a mutation in a cystic fibrosis transmembrane conductance regulator gene, composed of exocrine gland dysfunction involving multiple systems that may result in chronic respiratory infections, pancreatic enzyme deficiency, and developmental disorders. Our study describes for the first time the urinary profile of glucocorticoid metabolites and the activity of the enzymes involved in the development and metabolism of cortisol in patients with CF, using a gas chromatography/mass spectrometry method. Data were obtained from 25 affected patients and 70 sex- and age- matched healthy volunteers. We have shown a general decrease in the activity of enzymes involved in the peripheral metabolism of cortisol, such as 11β-hydroxysteroid dehydrogenase type 2, 5α- and 5β-reductases. In contrast, the activity of 11β-hydroxysteroid dehydrogenase type 1, the enzyme that converts cortisone to cortisol, increased. Furthermore, our study found a significant decrease in glucocorticoid excretion in patients with CF. This may suggest adrenal insufficiency or dysregulation of the HPA axis and the development of peripheral mechanisms to counteract cortisol degradation in the case of reduced synthesis of glucocorticoids by the adrenal glands. Furthermore, the activity of 5α-reductase seems to be enhanced only through the backdoor pathway, especially when we taking into consideration 11β-hydroxyandrosterone/11β-hydroxyetiocholanolone ratio which has been shown to be the best differential marker for enzyme activity. CF impairs nutritional effects and energetic balance in patients; thus, our findings suggest the existence of adaptive mechanisms due to limited secretion of adrenal steroids and subsequent diminished amounts of their metabolites in urine. On the other hand, local control of cortisol availability is maintained by enhanced 11βHSD1 activity and its recovery from cortisone in organs and tissues which need this. Steroid hormone dysregulation might be another important factor in the course of CF that should be taken into account when planning an effective and comprehensive therapy.
    Type of Medium: Online Resource
    ISSN: 1664-2392
    URL: Article
    URL: Article
    URL: Article
    DOI: 10.3389/fendo.2022.1074209
    DOI: 10.3389/fendo.2022.1074209.s001
    DOI: 10.3389/fendo.2022.1074209.s002
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2592084-4
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  • 4
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    Online Resource
    miR-487a-3p upregulated in type 1 diabetes targets CTLA4 and FOXO3
    Elsevier BV ; 2018
    In:  Diabetes Research and Clinical Practice Vol. 142 ( 2018-08), p. 146-153
    Details
    In: Diabetes Research and Clinical Practice, Elsevier BV, Vol. 142 ( 2018-08), p. 146-153
    Type of Medium: Online Resource
    ISSN: 0168-8227
    URL: Article
    DOI: 10.1016/j.diabres.2018.05.044
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2018
    detail.hit.zdb_id: 632523-3
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  • 5
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    MAVS is not a Likely Susceptibility Locus for Addison’s Disease and Type 1 Diabetes
    Walter de Gruyter GmbH ; 2017
    In:  Archivum Immunologiae et Therapiae Experimentalis Vol. 65, No. 3 ( 2017-6), p. 271-274
    Details
    In: Archivum Immunologiae et Therapiae Experimentalis, Walter de Gruyter GmbH, Vol. 65, No. 3 ( 2017-6), p. 271-274
    Type of Medium: Online Resource
    ISSN: 0004-069X , 1661-4917
    URL: Article
    DOI: 10.1007/s00005-016-0426-6
    Language: English
    Publisher: Walter de Gruyter GmbH
    Publication Date: 2017
    detail.hit.zdb_id: 2149971-8
    detail.hit.zdb_id: 282209-X
    SSG: 12
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  • 6
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    Table_1.pdf
    Frontiers Media SA ; 2021
    In:  Frontiers in Endocrinology Vol. 12 ( 2021-10-26)
    Details
    In: Frontiers in Endocrinology, Frontiers Media SA, Vol. 12 ( 2021-10-26)
    Abstract: Alterations in glucocorticoid metabolism may contribute to the development of obesity and insulin resistance (IR). Obesity in turn affects the androgen balance. The peripheral metabolism of steroids is equally an important determinant of their bioavailability and activity. The aim of this study was to evaluate steroid metabolism in obese children and to define which enzyme alterations are associated with IR. Clinical characteristics and anthropometric measurements were determined in 122 obese children and adolescents (72 girls, 50 boys) aged 8 – 18 years. 26 of them (21.3%) were diagnosed with IR (13 boys, 13 girls). Routine laboratory tests were performed and 24h urinary steroid excretion profiles were analyzed by gas chromatography/mass spectrometry. Positive relationship between 5α-reductase (SRD5A) activity and IR was found. According to the androsterone to etiocholanolone (An/Et) ratio the activity of SRD5A was significantly increased in obese children with IR, but the difference remained insignificant once the 5α-dihydrotestosterone to testosterone (5αDHT/T) ratio was considered. Furthermore, this relationship persisted in boys but was not observed in girls. The activity of 20α-hydroxysteroid dehydrogenase (20αHSD) and 20β-hydroxysteroid dehydrogenase (20βHSD) was reduced only in obese girls with IR. Conclude, in the context of obese children and adolescents with IR, we surmise that increased SRD5A represents a compensatory mechanism to reduce local glucocorticoid availability. This phenomenon is probably different in the liver (restriction) and in the adipose tissue (expected increase in activity). We show significant changes in 20αHSD and 20βHSD activity in obese girls with IR, but it is difficult to clearly determine whether the activity of these enzymes is an indicator of the function in their ovaries or adrenal glands.
    Type of Medium: Online Resource
    ISSN: 1664-2392
    URL: Article
    URL: Article
    DOI: 10.3389/fendo.2021.759971
    DOI: 10.3389/fendo.2021.759971.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2592084-4
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  • 7
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    Online Resource
    Assessment of steroid enzymes action in children and adolescents with obesity
    Elsevier BV ; 2023
    In:  Steroids Vol. 200 ( 2023-12), p. 109325-
    Details
    In: Steroids, Elsevier BV, Vol. 200 ( 2023-12), p. 109325-
    Type of Medium: Online Resource
    ISSN: 0039-128X
    URL: Article
    DOI: 10.1016/j.steroids.2023.109325
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2023
    detail.hit.zdb_id: 80312-1
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  • 8
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    The Impact of Obesity on the Excretion of Steroid Metabolites in Boys and Girls: A Comparison with Normal-Weight Children
    MDPI AG ; 2023
    In:  Nutrients Vol. 15, No. 7 ( 2023-04-01), p. 1734-
    Details
    In: Nutrients, MDPI AG, Vol. 15, No. 7 ( 2023-04-01), p. 1734-
    Abstract: Obesity in childhood is associated with several steroid changes, which result from excess body mass. The aim of this study was to evaluate steroid metabolism in children with obesity compared with those with normal weight, especially in relation to sex and puberty progress. We analyzed the clinical data of 191 children, aged between 5 and 18 years, with 115 affected (64 girls and 51 boys) and 76 unaffected (35 girls and 41 boys) by obesity. Routine clinical assessment and pubertal stage evaluation based upon Tanner’s scale were performed. In addition, to evaluate the impact of puberty, children with pre-adolescence and advanced puberty were divided into separate subgroups. Then, 24 h urine steroid excretion profiles were analyzed by gas chromatography/mass spectrometry. Significant differences in the excretion of steroid metabolites were found between normal weight children and children with obesity, especially in the prepubertal cohort. In this group, we observed enhanced activity in all the pathways of adrenal steroidogenesis. Raised excretion of mineralocorticoid derivatives such as tetrahydro-11-deoxycorticosterone, tetrahydrocorticosterone, and 5α-tetrahydrocorticosterone supported increased activity of this track. No significant differences were detected in the excreted free forms of cortisol and cortisone, while the excretion of their characteristic tetrahydro-derivatives was different. In pre-adolescent children with obesity, α-cortol and especially α-cortolone appeared to be excreted more abundantly than β-cortol or β-cortolone. Furthermore, in children with obesity, we observed elevated androgen excretion with an enhanced backdoor pathway. As puberty progressed, remarkable reduction in the differences between adolescents with and without obesity was demonstrated.
    Type of Medium: Online Resource
    ISSN: 2072-6643
    URL: Article
    DOI: 10.3390/nu15071734
    Language: English
    Publisher: MDPI AG
    Publication Date: 2023
    detail.hit.zdb_id: 2518386-2
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  • 9
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    Polymorphism in BACH2 gene is a marker of polyglandular autoimmunity
    Springer Science and Business Media LLC ; 2021
    In:  Endocrine Vol. 74, No. 1 ( 2021-10), p. 72-79
    Details
    In: Endocrine, Springer Science and Business Media LLC, Vol. 74, No. 1 ( 2021-10), p. 72-79
    Abstract: Genetically predisposed individuals may develop several autoimmune diseases—autoimmune polyendocrine syndromes (APS). APS types 2–4, are complex disorders, which combine various organ-specific autoimmune conditions. Recent reports support the considerable role of the BACH2 gene in immune cell differentiation and shifting the T-cell balance towards regulatory T-cells. BACH2 polymorphisms are associated with autoimmune disorders, including Addison’s disease (AD), Graves’ disease (GD), and probably type 1 diabetes (T1D). Our study was aimed to investigate the BACH2 variant, rs3757247, in endocrine autoimmunity in the Polish population. Methods The analysis comprised 346 individuals with APS, 387 with T1D only, and 568 controls. Genotyping was performed using TaqMan chemistry. Results APS type 2 was found in 219 individuals, type 3 in 102, and type 4 in 25 subjects. Overall, AD was diagnosed in 244 subjects, Hashimoto’s thyroiditis—in 238, T1D—in 127, GD—in 58, vitiligo and chronic gastritis each in 40 patients, celiac disease—in 28, premature menopause in 18, and alopecia in 4 patients. Minor T allele at rs3757247 was found in 56.4% APS vs. 44.1% control alleles (OR 1.59; 95%CI: 1.30–1.95, p   〈  0.0001). The distribution of genotypes revealed excess TT homozygotes in the APS cohort (33.2 vs. 20.1% in controls, p   〈  0.0001). The frequencies of rs3757247 alleles and genotypes in T1D patients did not present significant differences vs. controls ( p -values  〉  0.05). Conclusions These results provide evidence of the association between BACH2 polymorphism and polyglandular autoimmunity. Since carriers of rs3757247 display increased risk for additional autoimmune conditions, this variant could identify individuals prone to develop APS.
    Type of Medium: Online Resource
    ISSN: 1355-008X , 1559-0100
    URL: Article
    DOI: 10.1007/s12020-021-02743-9
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2021
    detail.hit.zdb_id: 1194484-5
    detail.hit.zdb_id: 2074043-8
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  • 10
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    Online Resource
    Answer to: Metabolomic distance between normal and obese children by Damon E. Negron, Julia R. Higdon and Jonghoon Kang
    Elsevier BV ; 2024
    In:  Steroids Vol. 208 ( 2024-08), p. 109452-
    Details
    In: Steroids, Elsevier BV, Vol. 208 ( 2024-08), p. 109452-
    Type of Medium: Online Resource
    ISSN: 0039-128X
    URL: Article
    DOI: 10.1016/j.steroids.2024.109452
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2024
    detail.hit.zdb_id: 80312-1
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