| 1. |
- El-Mansoury, Mohamed Mostafa, 1953, et al.
(författare)
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Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome.
- 2007
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Ingår i: Clinical endocrinology. - : Wiley. - 0300-0664 .- 1365-2265. ; 66:5, s. 744-51
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To study genotype-phenotype correlations in Turner syndrome (TS) regarding body composition, cardiovascular risk factors, stigmata and age at diagnosis vs. degree of mosaicism estimated as the percentage of 45,X and 46,XX cells. METHODS: One hundred and twenty-six TS women, mean age 31 years, were examined by three specialists, who reported stigmata independent of each other. Dual energy X-ray absorptiometry (DXA) was used to measure bone mineral density (BMD). The karyotype was blinded. Fluorescence in situ hybridization (FISH) was performed on buccal cells. A random population sample served as controls. RESULTS: Forty-four per cent exhibited a 45,X karyotype and 56% a second-cell line, while 27% of all had a 45,X/46,XX mosaicism. Five 45,X cases with a conventional karyotype were 45,X/46,XX mosaic according to FISH. At diagnosis, 45,X cases were younger (P < 0.05) and had more stigmata per person (P < 0.01) than the mosaics. TS with marker chromosome X or Y, iso or ring, did not differ from 45,X in this aspect. The mosaics had higher BMD and SHBG and lower total cholesterol and FSH than TS with 45,X and did not differ compared with controls in terms of body mass index (BMI), waist/hip ratio, BMD, blood pressure, cholesterol, triglycerides, SHBG, diabetes or osteoporosis. The number of stigmata correlated positively to BMI, waist/hip ratio, cholesterol and %45,X and inversely to height and %46,XX according to FISH. CONCLUSIONS: Mosaicism seems to mitigate the TS phenotype and the cardiovascular risk factor profile. Mosaics were diagnosed 8 years later than 45,X cases. This emphasizes the necessity for a stricter genotype categorization not only in the clinic but also in research on TS than previously adopted.
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| 2. |
- El-Mansoury, Mohamed Mostafa, 1953, et al.
(författare)
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Hypothyroidism is common in turner syndrome: results of a five-year follow-up.
- 2005
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Ingår i: The Journal of clinical endocrinology and metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 90:4, s. 2131-5
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Tidskriftsartikel (refereegranskat)abstract
- Turner syndrome (TS) is caused by a sex chromosome aberration. The aim was to study the prevalence and incidence of thyroid disease in adults with TS. Women with TS (n = 91; mean age, 37.7 +/- 11 yr) were compared with an age-matched female random population sample (n = 228). At baseline, 15 (16%) TS women were treated for hypothyroidism, and elevated serum TSH was found in another eight (9%). As a result, hypothyroidism was more common in women with TS (25%) than in controls (2%; P < 0.0001). Serum free T4 was lower (P = 0.02), and serum TSH was higher (P < 0.0001) in TS women than in age-matched controls. Of all TS women with hypothyroidism, 10 (43%) had an elevated thyroid peroxidase antibody titer vs. 15 (22%) of those without hypothyroidism (P < 0.05), evenly distributed between the karyotype 45,X and mosaicism. A high body mass index, but not a family history or blood lipids, was associated with hypothyroidism in TS. After the 5-yr follow-up, an additional 11 (16%) developed hypothyroidism, of whom four (36%) had elevated thyroid peroxidase. Altogether, 34 (37%) TS women had hypothyroidism after the 5-yr follow-up. Autoimmune hypothyroidism was common, with an annual incidence of 3.2% in TS. Thyroid function should be checked regularly in TS.
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| 3. |
- Amundson, Emily, et al.
(författare)
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Genetiska, somatiska och hormoners effekter på livskvalitet vid Turners syndrom.
- 2008
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Ingår i: Poster vid Svenska Läkaresällskapets Riksstämma 2008.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Livskvalitet var inte relaterad till längd, karyotyp eller hormonbehandling men påverkades negativt av social isolering, osteoporos och dålig balans vid Turners syndrom. Det är viktigt med en aktiv livsstil redan från barnsben för att få enbra muskel- och balansfunktion och därigenom en god livskvalitet.
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| 4. |
- El-Mansoury, Mohamed Mostafa, 1953, et al.
(författare)
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Elevated liver enzymes in Turner syndrome during a 5-year follow-up study.
- 2008
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Ingår i: Clinical endocrinology. - : Wiley. - 1365-2265 .- 0300-0664. ; 68:3, s. 485-90
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: To study the prevalence and incidence of elevated liver enzymes and their relationship with body weight, metabolic factors and other diseases in Turner syndrome (TS). DESIGN: Five-year follow-up. PATIENTS: Women with TS (n = 218, mean age 33 +/- 13, range 16-71 years) from outpatient clinics at university hospitals in Sweden. MEASUREMENTS: Fasting blood samples for aspartate (AST) and alanine aminotransferase (ALT), bilirubin, alkaline phosphatase (ALP), gamma-glutamyl transferase (GT), viral hepatitis serology and hepatic auto-antibodies, vitamin B12, blood glucose, lipids and hormones. RESULTS: Seventy-nine subjects (36%) had one or more liver enzyme levels higher than the reference level, the most prevalent being GT. Karyotype 45,X was present in 51% of all TS women and in 48% of those with elevated liver enzymes. Body weight, body mass index (BMI), total cholesterol, triglycerides, and apolipoproteins A and B at start were higher in TS women with elevated liver enzymes than in TS women with normal levels. At 5 years, AST, ALT and GT were increased and another 23% of patients had developed elevated liver enzymes, that is, 59% in total (36% + 23%), while in 6%, the elevated liver enzymes had been normalized and all 6% also had lowered cholesterol levels. Multivariate analysis showed that GT was correlated with total cholesterol; P = 0.0032 at start and P = 0.0005 at 5 years, independently of other factors. Liver biopsy in six TS women showed one cholangitis, one hepatitis C, two steatosis and two normal biopsies. Withdrawal of oestrogen substitution did not influence the liver enzymes. CONCLUSIONS: Pathological liver enzymes were common in TS women, with a prevalence of 36% at 33 years of age, an annual incidence over 5 years of 3.4%. There was no relation to karyotype, alcohol, viral hepatitis, E(2) or autoimmunity, but a connection with total serum cholesterol.
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| 5. |
- El-Mansoury, Mohamed Mostafa, 1953, et al.
(författare)
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Impaired body balance, fine motor function and hearing in women with Turner syndrome.
- 2009
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Ingår i: Clinical endocrinology. - : Wiley. - 1365-2265 .- 0300-0664. ; 71:2, s. 273-8
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Fractures are related to falling. Turner syndrome (TS) is associated with hypogonadism, osteoporosis and fractures and has been considered as a syndrome of early ageing. The aim was to study whether fine motor function (FM) and body balance (BB) were impaired and related to genotype, fractures, metabolic variables and hearing. DESIGN: Cross-sectional study. PATIENTS: TS women, n = 75, mean age 30 years (range 16-59) and treated with oestrogen hormone replacement therapy (HRT) at the out-patient clinic, Sahlgrenska University Hospital, Göteborg, Sweden, and 31 healthy controls, mean age 37 years (range 24-63). MEASUREMENTS: Six FM and eight BB tests with open and closed eyes, respectively, were done. Bone mineral density was estimated with Dual energy X-ray Absorptiometry. Presence/absence of fractures was noted, blood samples were taken and audiometry was done in the TS women. RESULTS: TS women had poorer FM (27.4 +/- 6.0 vs. 32.8 +/- 2.2; P < 0.0001) and BB (28.0 +/- 8.1 vs. 34.7 +/- 2.4; P < 0.0001) than controls. FM was poorer in TS women with hearing aids compared to those without (P < 0.05). FM and BB were negatively correlated with age, waist : hip ratio and positively correlated with hearing, and bone mineral density, and BB was negatively correlated with physical activity in TS women. BB correlated negatively with age in controls. FM, BB and hearing function were poorer in 45,X, nonmosaics, than in 45,X/46,XX, mosaics. CONCLUSIONS: FM and BB were poorer in adult TS women on HRT than in controls. Higher age, hearing impairment, osteoporosis, abdominal obesity, a sedentary lifestyle and the TS per se were strong determinants, and mosaicism mitigated both fine motor function and BB in TS.
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| 6. |
- Osmancevic, Amra, 1968, et al.
(författare)
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Risk factors for osteoporosis and bone status in postmenopausal women with psoriasis treated with UVB therapy.
- 2008
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Ingår i: Acta dermato-venereologica. - 0001-5555. ; 88:3, s. 240-6
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Tidskriftsartikel (refereegranskat)abstract
- The aims of this study were to examine whether postmenopausal women with psoriasis who were exposed to regular ultraviolet light B (UVB) therapy had greater bone mineral density than women of similar age from the same region, and to estimate the influence of risk factors on bone status. A total of 35 randomly selected women, age (mean +/- SD) 69.3 +/- 6.29 years (age range 60-82 years), with active psoriasis, mean onset at 37.0 years (+/- 23.5 SD) were studied. The patients had been previously exposed to broadband or narrowband UVB. Age-matched, women (n = 2448) from Göteborg, examined at the Geriatric out-patient clinic during the years 2001 and 2002, were used as controls. Bone mineral density was examined by Dual-Energy X-ray Absorptiometry (Hologic Delphi A) at the hip and the lumbar spine. Medical history and lifestyle factors were assessed with a questionnaire. Postmenopausal women with psoriasis were found to have higher bone mineral density than age-matched controls. Higher body weight, physical activity and UVB exposure could explain this finding.
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| 7. |
- Osmancevic, Amra, 1968, et al.
(författare)
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UVB therapy increases 25(OH) vitamin D syntheses in postmenopausal women with psoriasis.
- 2007
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Ingår i: Photodermatology, photoimmunology & photomedicine. - : Wiley. - 0905-4383 .- 1600-0781. ; 23:5, s. 172-8
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Tidskriftsartikel (refereegranskat)abstract
- Keywords: bone mineral density;psoriasis;secondary hyperparathyroidism;UVB therapy;vitamin D Background: Vitamin D3 is produced in the epidermis by ultraviolet (UV) radiation (290–315 nm) of 7-dehydrocholesterol. A similar range of 290–320 nm (broadband UVB) has been successfully used for years to treat psoriasis. The aim of this study was to investigate whether UVB therapy was able to influence vitamin D synthesis in psoriasis patients. Methods: Twenty-four postmenopausal, white Caucasian women, aged 69±5.9 (mean±SD), with active plaque psoriasis, were treated with broadband UVB two to three times per week for 8–12 weeks. The serum concentrations of calcidiol (25(OH)D3), calcitriol (1,25(OH)2D3), intact parathyroid hormone (PTH), thyroid hormones, osteocalcin, calcium and creatinine were measured before the first and after the last dose of radiation. Bone density was measured using Dual-Energy X-ray Absorptiometry (Hologic Delphi A) at the hip and lumbar spine. Results: Serum levels of 25(OH)D3 increased from 36.8±17 ng/ml (mean±SD) to 59.6±18.7 ng/ml (P<0.001) after the UVB treatment period. Serum PTH decreased from 62.8±25.7 ng/l to 48.2±17.4 ng/l (P<0.001). Secondary hyperparathyroidism (PTH>65 ng/l) was revealed in seven patients (29%) in whom PTH values were suppressed by the UVB therapy. The serum levels of calcitriol, calcium, osteocalcin, thyroid hormones and creatinine were unaltered. Conclusion: UVB therapy in elderly psoriatic women improved psoriasis, increased serum 25(OH)D3 synthesis and reduced serum PTH concentrations.
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| 8. |
- Osmancevic, Amra, 1968, et al.
(författare)
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Vitamin D production in psoriasis patients increases less with narrowband than with broadband ultraviolet B phototherapy.
- 2009
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Ingår i: Photodermatology, photoimmunology & photomedicine. - : Wiley. - 1600-0781 .- 0905-4383. ; 25:3, s. 119-23
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Tidskriftsartikel (refereegranskat)abstract
- Phototherapy of psoriasis is an effective treatment. In addition to standard broadband ultraviolet radiation B (UVB), (280-320 nm), narrowband phototherapy (NBUVB) (monochromatic UV between 311 and 312 nm) has become an important treatment for psoriasis. The same wavelength range of UVB (290-315 nm) induces synthesis of vitamin D. The aim was to compare the effect of broadband with NBUVB therapy on vitamin D synthesis in patients with psoriasis.
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| 9. |
- Bondy, Carolyn A, et al.
(författare)
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Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group.
- 2007
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Ingår i: The Journal of clinical endocrinology and metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 92:1, s. 10-25
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: The objective of this work is to provide updated guidelines for the evaluation and treatment of girls and women with Turner syndrome (TS). PARTICIPANTS: The Turner Syndrome Consensus Study Group is a multidisciplinary panel of experts with relevant clinical and research experience with TS that met in Bethesda, Maryland, April 2006. The meeting was supported by the National Institute of Child Health and unrestricted educational grants from pharmaceutical companies. EVIDENCE: The study group used peer-reviewed published information to form its principal recommendations. Expert opinion was used where good evidence was lacking. CONSENSUS: The study group met for 3 d to discuss key issues. Breakout groups focused on genetic, cardiological, auxological, psychological, gynecological, and general medical concerns and drafted recommendations for presentation to the whole group. Draft reports were available for additional comment on the meeting web site. Synthesis of the section reports and final revisions were reviewed by e-mail and approved by whole-group consensus. CONCLUSIONS: We suggest that parents receiving a prenatal diagnosis of TS be advised of the broad phenotypic spectrum and the good quality of life observed in TS in recent years. We recommend that magnetic resonance angiography be used in addition to echocardiography to evaluate the cardiovascular system and suggest that patients with defined cardiovascular defects be cautioned in regard to pregnancy and certain types of exercise. We recommend that puberty should not be delayed to promote statural growth. We suggest a comprehensive educational evaluation in early childhood to identify potential attention-deficit or nonverbal learning disorders. We suggest that caregivers address the prospect of premature ovarian failure in an open and sensitive manner and emphasize the critical importance of estrogen treatment for feminization and for bone health during the adult years. All individuals with TS require continued monitoring of hearing and thyroid function throughout the lifespan. We suggest that adults with TS be monitored for aortic enlargement, hypertension, diabetes, and dyslipidemia.
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| 10. |
- Gravholt, Claus Højbjerg, et al.
(författare)
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Clinical and epidemiological description of aortic dissection in Turner's syndrome.
- 2006
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Ingår i: Cardiology in the young. - 1047-9511. ; 16:5, s. 430-6
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Women with Turner's syndrome have an increased risk of congenital cardiac malformations, ischaemic heart disease, hypertension and stroke. Aortic dissection seems to occur with increased frequency. AIM: To describe in more detail aortic dissection as encountered in Turner's syndrome, giving attention to clinical, histological and epidemiological aspects. MATERIALS AND METHODS: Based on a retrospective study, we describe the clinical, karyotypic, and epidemiological aspects of aortic dissection as encountered in cases of Turner's syndrome seen in Denmark and Sweden. RESULTS: The median age at onset of aortic dissection in 18 women was 35 years, ranging from 18 to 61 years. Fourteen of 18 women had a 45,X karyotype, while 2 patients had 45,X/45,XY, and 2 had the 45,X/46,X+r(X) complement, respectively. Echocardiography was performed in 10 of 18 patients before their acute illness, and showed signs of congenital cardiac disease, with either bifoliate aortic valves, dilation of the aortic root, or previous aortic coarctation evident in most patients. In 5 patients evidence of a bifoliate aortic valve was conclusive. Hypertension was present in 5 of 18 patients, while 10 of the patients died from aortic dissection, of so-called type A in 6, type B in 3, while in the final case the origin of dissection could not be determined. Biochemical analysis showed altered ratio between type I and type III collagen. Histology showed cystic medial necrosis in 3 of 7 cases. We estimated an incidence of dissection of 36 per 100,000 Turner's syndrome years, compared with an incidence of 6 per 100,000 in the general population, and a cumulated rate of incidence of 14, 73, 78, and 50 per 100,000 among 0-19, 20-29, 30-39, and 40+ year olds, respectively. CONCLUSION: Aortic dissection is extremely common in the setting of Turner's syndrome, and occurs early in life. Patients with Turner's syndrome should be offered a protocol for clinical follow-up similar to that provided for patients with Marfan syndrome, and each clinic should embrace a programme for follow-up.
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| 11. |
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| 12. |
- Lorentzon, Mattias, 1970, et al.
(författare)
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Leptin is a negative independent predictor of areal BMD and cortical bone size in young adult Swedish men.
- 2006
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Ingår i: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. - : Wiley. - 0884-0431. ; 21:12, s. 1871-8
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Tidskriftsartikel (refereegranskat)abstract
- The association between leptin and areal BMD has been controversial, and the predictive role of leptin on cortical volumetric BMD and bone size has not previously been studied. We show that leptin is a negative independent predictor of aBMD (DXA), at several measured sites, and of cortical bone size (pQCT) in a large population of young men. INTRODUCTION: Recent findings suggest that both adipose tissue (AT) and bone mass are regulated by leptin. Previous reports studying the association between leptin and areal BMD (aBMD) have yielded conflicting results. The role of leptin on volumetric BMD (vBMD) and bone size of the cortical and trabecular bone compartments has not previously been studied. MATERIALS AND METHODS: The Gothenburg Osteoporosis and Obesity Determinants (GOOD) study is a population-based study of 1068 men (age, 18.9 +/- 0.6 [SD] years). aBMD of the total body, lumbar spine, femoral neck, both radii, and trochanter, as well as total body AT and lean mass (LM) were measured using DXA, whereas cortical and trabecular vBMD and bone size were measured by pQCT. RESULTS: Total body LM could explain a larger magnitude of the difference in the variation in aBMD and cortical bone size than what total body AT could (total body aBMD: LM 37.4% versus AT 8.7%; tibia cross-sectional area [CSA]: LM 46.8% versus AT 5.6%). The independent role of leptin on bone parameters was studied using a multiple linear regression model, including age, total body LM and AT, height, present physical activity, calcium intake, and smoking as covariates. Leptin was found to be a negative independent predictor of aBMD (total body: beta = -0.08, p = 0.01; lumbar spine: beta = -0.13, p < 0.01; trochanter: beta = -0.09, p = 0.01), as well as of the cortical bone size (CSA and thickness) of both the radius (CSA: beta = -0.12, p < 0.001) and tibia (CSA: beta = -0.08, p < 0.01), but not of the cortical or trabecular vBMD of these bones. CONCLUSION: Our results indicate that LM has a greater impact on bone mass than AT. Our findings further show that leptin is a negative independent predictor of aBMD at several measured sites and of bone parameters reflecting cortical bone size, but not vBMD, in a large population of young Swedish men.
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| 13. |
- Månsson, Mattias, et al.
(författare)
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Women with polycystic ovary syndrome are often depressed or anxious--a case control study.
- 2008
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Ingår i: Psychoneuroendocrinology. - : Elsevier BV. - 0306-4530. ; 33:8, s. 1132-8
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Polycystic ovary syndrome (PCOS) is a common hyperandrogenic endocrine disorder affecting women of fertile age. The aim of this study was to survey whether the rate of clinical psychiatric disorders in PCOS differs from the normal population. METHOD: Women with PCOS (n=49) meeting the Rotterdam criteria for PCOS, and 49 age-matched controls identified from the population registry, were recruited. Trained clinicians used the MINI International Neuropsychiatric Interview to establish lifetime occurrence of Axis I DSM diagnoses. Serum-testosterone and sex hormone binding globulin were analyzed. RESULTS: Women with PCOS had higher lifetime incidence of depressive episodes, social phobia, and eating disorders than controls. Suicide attempts were seven times more common in the PCOS group than in the controls. Current as well as lifetime use of antidepressants and anxiolytic drugs were more common in the PCOS group. CONCLUSIONS: Previous studies have found that PCOS is associated with decreased quality of life and self-rated mental symptoms. This study demonstrates that PCOS is also linked to psychiatric syndromes as verified by structured clinical assessments. The clinical implication of this study is that clinicians treating women with PCOS should be aware that these women are a high risk group for common affective and anxiety disorders as well as suicide attempts.
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| 14. |
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| 15. |
- Yamori, Yukio, et al.
(författare)
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Male cardiovascular mortality and dietary markers in 25 population samples of 16 countries.
- 2006
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Ingår i: Journal of hypertension. - : Ovid Technologies (Wolters Kluwer Health). - 0263-6352. ; 24:8, s. 1499-505
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To examine associations between various dietary markers and mortality from ischemic heart disease (IHD) and stroke. DESIGN AND SETTING: A multi-center cross-sectional study, involved 25 co-operative study centers in 16 countries. METHOD: In the report, data for males (n = 2462), aged 48-56 years, from 25 centers were included. Various dietary markers were measured from individual's blood and 24-h urine samples. Age-standardized male mortality rates for IHD and stroke were collected for the region encompassing each study center. Ecological cross-center associations between dietary markers and the mortality were analyzed using univariate and multivariate analysis techniques. RESULTS: Bivariate correlation analyses showed that IHD mortality was associated positively with body mass index (BMI), serum total cholesterol (TC), urinary potassium (K) and serum phospholipid palmitic acid, and negatively with urinary taurine, sodium (Na) and Na/K (potassium) ratio, n-3 polyunsaturated (n-3PU) fatty acids and polyunsaturated-to-saturated (P/S) fatty acid ratio. Stroke mortality was associated positively with Na and Na/K ratio and phospholipid arachidonic acid (AA), and negatively with TC and K. Stepwise linear regression analyses indicated that 59% of the variance in IHD mortality could be explained by the variance in taurine and P/S ratio and that 57% of stroke mortality could be explained by Na/K ratio and phospholipid AA. CONCLUSION: Although ecological associations do not necessarily imply causality, and the present findings are limited to male samples only, the study extends our understanding of dietary markers in relation to worldwide IHD and stroke mortality rates, and indicates useful avenues for further study on IHD and stroke prevention.
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