| 1. |
- Falhammar, Henrik, et al.
(författare)
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Bone Mineral Density, Bone Markers, and Fractures in Adult Males with Congenital Adrenal Hyperplasia.
- 2013
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Ingår i: European journal of endocrinology / European Federation of Endocrine Societies. - 1479-683X. ; 168, s. 331-341
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: The aim of this study was to determine bone mineral density (BMD), markers of bone metabolism, fractures, and steroids reflecting hormonal control in adult males with congenital adrenal hyperplasia (CAH). SUBJECTS, METHODS AND DESIGN: We compared CAH males with 21-hydroxylase deficiency (n=30), 19-67 years old, with age- and sex-matched controls (n=32). Subgroups of CYP21A2 genotypes, age, glucocorticoid preparation, poor control versus overtreatment, and early versus late (>36 months) diagnosis were studied. Bone mineral density (BMD) measured by dual-energy x-ray absorptiometry (DXA) and markers of bone metabolism and androgens/17-hydroxyprogesterone levels were investigated. RESULTS: All, including older (>30 yrs), CAH patients had lower BMD in all measured sites compared to control subjects. The null group demonstrated lower BMD in more locations than the other groups. Osteoporosis/osteopenia was present in 81% of CAH patients compared to 32% in controls (≥30 yrs). Fracture frequency was similar, osteocalcin lower, and fewer patients than controls had vitamin D insufficiency. IGF-I was elevated in the milder genotypes. In patients, total body BMD was positively correlated to weight, BMI, total lean body mass, triglycerides, and negatively to prolactin. Patients on prednisolone had lower BMD and osteocalcin levels than those on hydrocortisone/cortisone acetate. Patients with poor control had higher femoral neck BMD. There were no differences in BMD between patients with an early versus late diagnosis. CONCLUSIONS: CAH males have low BMD and bone formation markers. BMD should be monitored, adequate prophylaxis and treatment established, and glucocorticoid doses optimized to minimize the risk of future fractures.
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| 2. |
- Falhammar, Henrik, et al.
(författare)
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Cardiovascular risk, Metabolic Profile, and Body Composition in Adult Males with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
- 2011
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Ingår i: European journal of endocrinology. - 1479-683X. ; 164:1, s. 285-293
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Life-long glucocorticoid therapy in patients with congenital adrenal hyperplasia (CAH) or the disease per se may result in increased cardiovascular risk. We therefore investigated cardiovascular and metabolic risk profiles in adult CAH males. Subjects and Methods: We compared CAH males (n=30), 19-67 years old, with age- and sex-matched controls (n=32). Subgroups of different ages (<30 years or older) and CYP21A2 genotypes (null, I2splice and I172N as the mildest mutation) were studied. Anthropometry, fat and lean mass measured by dual-energy x-ray absorptiometry (DXA), lipids, liver function tests, homocysteine, lipoprotein(a), glucose and insulin during an oral glucose tolerance test (OGTT), urine albumin, adrenal hormones, and 24h ambulatory blood pressure measurements were studied. Results: CAH males were shorter. Waist/hip ratio and fat mass were higher in older patients and the I172N group. Heart rate was faster in older patients, the I2splice, and I172N groups. Insulin levels were increased during OGTT in all patients and in the I172N group. Gamma-glutamyl transpeptidase was increased in older patients and in the I172N group. Testosterone was lower in older patients. Homocysteine was lower in younger patients which may be cardioprotective. The cardiovascular risk seemed higher with hydrocortisone/cortisone acetate compared to prednisolone. Urinary epinephrine was lower in all groups of patients except in I172N. Conclusions: Indications of increased risk were found in CAH males ≥30 years old and in the I172N group. In contrast, younger CAH males did not differ from age-matched controls. This is likely to reflect a better management in recent years.
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| 3. |
- Falhammar, Henrik, et al.
(författare)
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Fertility, Sexuality and Testicular Adrenal Rest Tumors in Adult Males with Congenital Adrenal Hyperplasia.
- 2012
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Ingår i: European journal of endocrinology. - 1479-683X. ; 166, s. 441-449
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Fertility in males with congenital adrenal hyperplasia (CAH) is reported from normal to severely impaired. We therefore investigated fertility/fecundity, social/sexual situation, and pituitary- gonadal function in CAH males.Subjects and methods: The patient cohort comprised 30 males with 21-hydroxylase deficiency, 19-67 yr. Their fertility was compared with age-matched national population data. For the evaluation of social/sexual factors and hormone status, age-matched controls were recruited (n=32). Subgroups of different ages (<30 years and older) and CYP21A2 genotypes: null (severe salt wasting), I2splice (milder salt wasting), and I172N (simple virilizing) were also studied. Patients underwent testicular ultrasound examination (n=21), and semen analysis (n=14).Results: Fertility was impaired in CAH males compared to national data (0.9±1.3 vs. 1.8±0.5 children/father, P<0.001). There were no major differences in social and sexual factors between patients and controls apart from more fecundity problems, particularly in the I172N group. The patients had lower testosterone/estradiol ratio and inhibin B, and higher FSH. The semen samples were pathological in 43% (6/14) of patients and sperm concentration correlated with inhibin B and FSH. Testicular adrenal rest tumours (TARTs) were found in 86% (18/21). Functional testicular volume correlated positively with the testosterone/estradiol ratio, sperm concentration and inhibin B. Patients with pathological semen had increased fat mass and indications of increased cardiometabolic risk.Conclusions: Fertility/fecundity was impaired in CAH males. The frequent occurrence of TARTs resulting in testicular insufficiency appears to be the major cause, but other factors such as elevated fat mass may contribute to a low semen quality.
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| 4. |
- Falhammar, Henrik, et al.
(författare)
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Quality of life, social situation, and sexual satisfaction, in adult males with congenital adrenal hyperplasia.
- 2014
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Ingår i: Endocrine. - : Springer Science and Business Media LLC. - 1559-0100 .- 1355-008X. ; 47:1, s. 299-307
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Tidskriftsartikel (refereegranskat)abstract
- To determine quality of life (QoL) in adult males with congenital adrenal hyperplasia (CAH). CAH males with 21-hydroxylase deficiency (n = 30), 19-67 years old, were compared with controls (n = 32). QoL was assessed using questionnaires on general living conditions and sexual issues, and the psychological well-being index (PGWB) form. Fewer CAH males than controls were students (3 vs. 25 %, P = 0.028) and more had blue-collar work (57 vs. 33 %, P = 0.023). Patients were less interested in sports (47 vs. 72 %, P = 0.034) and art/literature/film (10 vs. 47 %, P = 0.004). PGWB total score was 82.7 ± 13.7 versus 87.0 ± 11.1 (P = NS), but hydrocortisone/cortisone acetate treated scored lower than controls and prednisolone treated. Glucocorticoid over-treated had lower QoL than those with poor control (PGWB total score 77.1 ± 13.5 vs. 92.4 ± 11.1, P = 0.026) and controls (P = 0.025). Total PGWB score was positively correlated with adrenal androgens and steroid precursors. Subscale scores indicated that patients with late diagnosis were more depressive (12.1 ± 2.8 vs. 13.9 ± 1.4, P = 0.011) and had a lower self-control (11.3 ± 3.6 vs. 13.1 ± 1.0, P = 0.019) compared with controls. Sexual satisfaction was similar in spite of more patients being sexually inactive (27 vs. 6 %, P = 0.040). Adult CAH males differed from controls with respect to type of occupation and spare time interests but had similar QoL despite being less sexually active. Optimizing glucocorticoid therapy might further improve QoL. Some disadvantages found in patients diagnosed late will hopefully not be seen in patients diagnosed by neonatal screening, but this has yet to be studied.
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| 5. |
- Malmgren, Helge, 1945, et al.
(författare)
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A philosophical view on concepts in psychiatry
- 2010
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Ingår i: International Journal of Law and Psychiatry. - : Elsevier BV. - 0160-2527. ; 33, s. 66-72
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Tidskriftsartikel (refereegranskat)abstract
- This essay first outlines a philosophical theory of concepts and then applies it to two areas of relevance to psychiatrists, especially forensic psychiatrists. In the philosophical theory, the respective roles of verbal and non-verbal definitions are illuminated, and the importance of the phenomenon of division of semantic labour is stressed. It is pointed out that vagueness and ambiguity of a term often result when the term is used for several practical purposes at the same time. Such multi-purpose uses of terms may explain both the current problems associated with the Swedish forensic–psychiatric concept of a severe mental disorder and some of the shortcomings of DSM-IV.
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| 6. |
- Nordenström, Anna, et al.
(författare)
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Sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency: clinical perspective and the patients' perception.
- 2010
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Ingår i: The Journal of clinical endocrinology and metabolism. - : The Endocrine Society. - 1945-7197 .- 0021-972X. ; 95:8, s. 3633-40
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Tidskriftsartikel (refereegranskat)abstract
- CONTEXT: Females with congenital adrenal hyperplasia (CAH) due to a CYP21A2 deficiency are exposed to androgens during fetal development, resulting in virilization of the external genitalia. Little is known about how these women feel that the disease has affected their lives regarding surgery and psychosexual adaptation. OBJECTIVE: Our objective was to investigate the correlation between the surgical results, the self-perceived severity of the disease, and satisfaction with sexual life and relate the results to the CYP21A2 genotype. DESIGN AND PARTICIPANTS: Sixty-two Swedish women with CAH and age-matched controls completed a 120-item questionnaire, and a composite score for sexual function was constructed. The surgical outcome, including genital appearance and clitoral sensitivity, was evaluated by clinical examination. The patients were divided into four CYP21A2 genotype groups. RESULTS: The sexual function score, but not for genital appearance, was higher in the patients satisfied with their sexual life. This was also true of the patients who were satisfied with the surgical result. There were discrepancies between the patients' perception of the impact of the condition on their sexual life and what health professionals would assume from clinical examination. The patients in the null genotype group scored lower on sexual function and satisfaction with their sexual life and had more surgical complications, also compared with the slightly less severe I2-splice genotype group. CONCLUSION: Our data show that the null genotype group was considerably more affected by the condition than the other groups and should be regarded as a subgroup, both psychologically and from a surgical perspective. Genotyping adds clinically valuable information.
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| 7. |
- Thorén, Henrik
(författare)
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History and philosophy of science as an interdisciplinary field of problem transfers
- 2014
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Konferensbidrag (refereegranskat)abstract
- In this paper we return to Ronald Giere (1973) and his claim that history of science as a discipline cannot contribute to philosophy of science by providing, partial or whole, solutions to philosophical problems. Let us suppose that Giere was right. Would the implication be that there can be no genuine interdisciplinarity between the two disciplines? In answering this question it is first suggested that connections between disciplines can be formed around the transfer and sharing of problems (as well as solutions); and that this is a viable alternative of how to understand the relationship between history and philosophy of science. Next we argue that this is sufficient for establishing a genuine form of interdisciplinarity between them. An example is presented—Lindley Darden’s (1991) book on theory change—that shows how philosophy of science can rely on history of science in this way.
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| 8. |
- Thorén, Henrik, et al.
(författare)
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Philosophy of Interdisciplinarity: Problem‐Feeding, Conceptual Drift, and Methodological Migration
- 2011
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Ingår i: PhilSci Archive.
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Konferensbidrag (refereegranskat)abstract
- One way to bring order into the often muddled picture we have of interdisciplinarity is to sort interdisciplinary projects or aims by the kinds of element that interact in encounters between researchers of the two or more disciplines involved. This is not the usual approach. Since the early seventies and the publication of Erich Jantsch (1972), at least, the level of integration of the disciplines has been the primary focus. For instance, the level of integration is often treated as the distinguishing boundary between multi‐, inter‐, and trans‐disciplinarity. We identify three kinds of interdisciplinary relation: problem‐feeding, conceptual drift, and methodological migration; we focus, in particular, on the first of these. Drawing on examples from the emerging field of Sustainability Science we show that problem‐feeding is a common and apparently fruitful way of connecting disparate disciplines. We illustrate some of the roles conceptual drift and methodological migration have in problem‐feeding as well as in their own right. Towards the end of the paper we suggest that there is an interesting difference between our approach to interdisciplinarity and the integrative perspective suggested by Jantsch. The interdisciplinarity resulting from problem‐feeding between researchers is typically local and temporary; integration is associated with a longer‐term, global form of interdisciplinarity.
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| 9. |
- Thorén, Henrik
(författare)
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Resilience as a Unifying Concept
- 2014
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Ingår i: International Studies in the Philosophy of Science. - : Informa UK Limited. - 0269-8595 .- 1469-9281. ; 28:3, s. 303-324
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Tidskriftsartikel (refereegranskat)abstract
- In sustainability research and elsewhere the notion of resilience is attracting growing interest and causing heated debate. Those focusing on resilience often emphasize its potential to bridge, integrate, and unify disciplines. This paper attempts to evaluate these claims. Resilience is investigated as it appears in several fields, including materials science, psychology, ecology, and sustainability science. It is argued that two different concepts of resilience are in play: one local, the other global. The former refers to the ability to return to some reference state after a disturbance, the latter the maintenance of some property during a disturbance. An implication of this analysis is that the various uses of the resilience concept are more closely related than has been previously been suggested. Furthermore it is argued that there is a preference towards using highly abstract versions of the concept. This explains the apparent context insensitivity of the concept but presents a problem to those hoping to establish a research programme based on it. From this we argue that the project of conceptual unification does not, on its own, imply a methodologically, or even theoretically, uni- fied empirical project. Studying resilience in the field—that is the actual structures and dynamics that determine the resilience of par- ticular systems—will involve deploying a range of different methods, tools, and techniques.
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| 10. |
- Thorén, Henrik, et al.
(författare)
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The philosophy of interdisciplinarity: sustainability science and problem-feeding
- 2013
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Ingår i: Journal for General Philosophy of Science. - : Springer Science and Business Media LLC. - 0925-4560 .- 1572-8587. ; 44:2, s. 337-355
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Tidskriftsartikel (refereegranskat)abstract
- Traditionally, interdisciplinarity has been taken to require conceptual or theoretical integration. However, in the emerging field of sustainability science this kind of integration is often lacking. Indeed sometimes it is regarded as an obstacle to interdisciplinarity. Drawing on examples from sustainability science, we show that problem-feeding, i.e. the transfer of problems, is a common and fruitful-looking way of connecting disparate disciplines and establishing interdisciplinarity. We identify two species of problem-feeding: unilateral and bilateral. Which of these is at issue depends on whether solutions to the problem are fed back to the discipline in which the problem originated. We suggest that there is an interesting difference between the problem-feeding approach to interdisciplinarity and the traditional integrative perspective suggested by among others Erich Jantsch and his colleagues. The interdisciplinarity resulting from problem-feeding between researchers can be local and temporary and does not require collaboration between proximate disciplines. By contrast, to make good sense of traditional integrative interdisciplinarity we must arguably associate it with a longer-term, global form of close, interdisciplinary collaboration.
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| 11. |
- Thorén, Henrik, et al.
(författare)
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Weak Emergence and Complexity
- 2010
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Ingår i: Artificial Life XII Proceedings of the Twelfth International Conference on the Synthesis and Simulation of Living Systems. - 9780262290753 - 0262290758 ; , s. 879-886
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Konferensbidrag (refereegranskat)abstract
- In this paper we consider Mark Bedau’s notion of weak emer- gence (WE) and relate it to various attempts to objectively construe complexity. We argue that the heavy reliance on a specific notion of complexity risks rendering the concept superfluous. Furthermore we discuss what sort of systems might reasonably be understood as exhibiting emergence at all and point out that the macro-level needs to be at least min- imally structured. A worry may thus be formed that macro- level generalisations provide the sort of short-cut that is ex- plicitly excluded from WE thus potentially making the con- cept apply only to chaotic systems of limited interest (in this context).
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