| 11. |
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| 12. |
- Dellenmark-Blom, Michaela, 1983, et al.
(author)
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Health-related quality of life among children, adolescents, and adults with bladder exstrophy–epispadias complex: a systematic review of the literature and recommendations for future research
- 2019
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In: Quality of Life Research. - : Springer Science and Business Media LLC. - 0962-9343 .- 1573-2649. ; 28:6, s. 1389-1412
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Journal article (peer-reviewed)abstract
- Purpose: Bladder exstrophy–epispadias complex (BEEC) is a rare spectrum of genitourinary malformations. Children risk long-term urinary and genital dysfunctions. To achieve a comprehensive understanding, this study aimed to review the literature on generic and disease-specific health-related quality of life (HRQOL) in BEEC patients, and methodologies used. Methods: A literature search was conducted in Pubmed/CINAHL/Embase/PsycINFO/Cochrane, from inception to May 2018. A meta-analysis of HRQOL in BEEC patients compared to healthy references was performed. Results: Twenty-one articles (published 1994–2018), describing HRQOL of children and adolescents (n = 5) and adults only (n = 5), or integrated age populations (n = 11), were identified (median sample size 24, loss to follow-up 43%, response rate 84%). Overall HRQOL was reduced in BEEC patients compared to healthy references in 4/4 studies. Impaired physical or general health in BEEC patients has been described in 9 articles, diminished mental health in 11, restricted social health in 10, and sexual health/functioning or body perception impairments in 13 articles. Urinary incontinence was the most common factor related to worse HRQOL (12 studies). In six studies, HRQOL was better than healthy norms. In eligible studies (n = 5), the pooled estimate of the effect of BEEC indicated worse HRQOL for children and adults (0 > effect sizes < 0.5). Thirty-six HRQOL assessments were used, none developed and validated for BEEC. Conclusions: HRQOL in BEEC patients may be negatively impacted, particularly considering mental and social HRQOL. Sexual health/functioning or body perception impairments may be present in adolescents and adults. However, HRQOL is heterogeneously assessed and subsequent findings are differently reported. Additional research is warranted and can be improved. © 2019, Springer Nature Switzerland AG.
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| 13. |
- Draaken, Markus, et al.
(author)
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Classic Bladder Exstrophy: Frequent 22q11.21 Duplications and Definition of a 414 kb Phenocritical Region
- 2014
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In: Birth Defects Research. Part A: Clinical and Molecular Teratology. - : Wiley. - 1542-0760 .- 1542-0752. ; 100:6, s. 512-517
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Journal article (peer-reviewed)abstract
- Background: Classic bladder exstrophy (CBE) is the most common form of the bladder exstrophy and epispadias complex. Previously, we and others have identified four patients with a duplication of 22q11.21 among a total of 96 unrelated CBE patients. Methods: Here, we investigated whether this chromosomal aberration was commonly associated with CBE/bladder exstrophy and epispadias complex in an extended case-control sample. Multiplex ligation-dependent probe amplification and microarray-based analysis were used to identify 22q11.21 duplications in 244 unrelated bladder exstrophy and epispadias complex patients (including 217 CBE patients) and 665 healthy controls. Results: New duplications of variable size were identified in four CBE patients and one control. Pooling of our previous and present data (eight duplications in 313 CBE patients) yielded a combined odds ratio of 31.86 (95% confidence interval, 4.24-1407.97). Array-based sequence capture and high-throughput targeted re-sequencing established that all breakpoints resided within the low-copy repeats 22A to 22D. Comparison of the eight duplications revealed a 414 kb phenocritical region harboring 12 validated RefSeq genes. Characterization of these 12 candidate genes through whole-mount in situ hybridization of mouse embryos at embryonic day 9.5 suggested that CRKL, THAP7, and LZTR1 are CBE candidate genes. Conclusion: Our data suggest that duplication of 22q11.21 increases CBE risk and implicate a phenocritical region in disease formation. (C) 2014 Wiley Periodicals, Inc.
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| 14. |
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| 15. |
- Duong, Thi Hoa, et al.
(author)
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Micturition pattern in young boys with posterior urethral valves—A pilot study in small boys who are potty-trained from infancy
- 2013
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In: Open Journal of Pediatrics. - : Scientific Research Publishing, Inc.. - 2160-8741 .- 2160-8776. ; 03, s. 358-363
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Journal article (peer-reviewed)abstract
- Introduction: To investigate if potty training from infancy can affect bladder dysfunction in boys with posterior urethral valves (PUV). Subjects and Meth- ods: The voiding pattern and emptying ability were followed using the 4-hour voiding observation method in 17 Vietnamese boys with PUV aged 3 months to 4 years who had been potty-trained from infancy. This group was compared with a group of healthy Viet- namese boys. Results: In the boys with PUV, the bladder volume increased according to age, and in- terrupted voiding was rare. However, when compar- ing boys with PUV with healthy boys, a significant difference was noted with more frequent voidings and lower voided volumes in the age group 0 - 1 year (P < 0.001). Despite the minimum amount of residual urine, average 8 ml or less in the boys with PUV, the age groups 1 - 2 and 2 - 4 years had significantly higher residual volumes compared with those of the healthy boys (P < 0.001). Conclusion: The findings from the 4-hour voiding observation showed few signs of dysfunctional bladder in the Vietnamese boys with PUV, including residual urine, even if there were signs of dysfunction compared with the healthy Viet- namese boys. Potty training from infancy could favor early bladder rehabilitation in boys with PUV.
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| 16. |
- Duong, Thi Hoa, et al.
(author)
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Urinary bladder control during the first 3years of life in healthy children in Vietnam - A comparison study with Swedish children.
- 2013
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In: Journal of Pediatric Urology. - : Elsevier BV. - 1477-5131 .- 1873-4898. ; 9:6, s. 700-706
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Journal article (peer-reviewed)abstract
- OBJECTIVES: To study outcomes of early potty training in a population of healthy children with a tradition of early potty training and to compare these findings with a group of children to whom potty training was applied later. SUBJECTS AND METHODS: Mothers and their 47 healthy children in Vietnam participated in this longitudinal study. The voiding pattern and emptying ability were followed by the 4-hvoiding observation method from 3 months to 3 years of age. A comparison is made with a group of 57 Swedish children investigated in a similar manner. RESULTS: In the group of Vietnamese children, 89% were on daily potty training at the age of 6 months. At the age of 24 months, potty training was complete for 98%. In the Swedish group, just a few (5%) had started daily potty training by the age of 24 months (p<0.001). The Vietnamese group had fewer voidings and lower voided volumes than the Swedish group. In the Vietnamese children, bladder emptying could be regarded as having been completed, with no residual urine at 9 months, compared with the Swedish group, which first showed complete emptying at the age of 36 months. CONCLUSION: Potty training performed daily affects the emptying ability positively. In the Vietnamese group, no residual urine was found at the age of 9 months. These results differ significantly from those of the group of Swedish children.
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| 17. |
- Falhammar, H, et al.
(author)
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Fractures and Bone Mineral Density in Adult Women with 21-Hydroxylase Deficiency.
- 2007
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In: J Endocrinol Metab. - : The Endocrine Society. - 0021-972X .- 1945-7197.
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Journal article (peer-reviewed)abstract
- Context: Patients with classic congenital adrenal hyperplasia (CAH) receive lifelong, often supraphysiological, glucocorticoid therapy. Pharmacologic doses of glucocorticoids are an established risk factor for osteoporosis. Objectives: To evaluate bone mineral density (BMD), fracture prevalence and markers of bone metabolism in adult females with CAH. Design: This was a cross-sectional observational study. Setting: Tertiary care referral centers. Participants: We studied 61 women, aged 18-63 years, with genetically verified CAH due to 21-hydroxylase deficiency. They were patients with salt-wasting (n = 27), simple virilising (n = 28) and non-classic 21-hydroxylase deficiency (n = 6). Sixty-one age-matched women were controls. Main outcome measures: History of fractures was recorded. Total body, lumbar spine and femoral neck BMD were measured by dual-energy X-ray absorptiometry. The WHO criteria for osteopenia and osteoporosis were used. Serum marker of bone resorption, beta-C telopeptide (CTX) was studied. Results: The mean glucocorticoid dose in hydrocortisone equivalents was 16.9 +/- 0.9 mg/m(2). Patients had lower BMD than controls at all measured sites (P < 0.001). In patients < 30 years old 48% were osteopenic vs 12% in controls (P < 0.009). In patients >/= 30 years old 73% were osteopenic or osteoporotic vs 21% in controls (P < 0.001). BMD was similar in the two classic forms and had no obvious relationship to genotypes. CTX was decreased in older patients. More fractures were reported in patients than controls (P < 0.001). The number of vertebrae and wrist fractures almost reached significance (P = 0.058). Conclusion: Women with CAH have low BMD and increased fracture risk. BMD should be monitored, adequate prophylaxis and treatment instituted, and glucocorticoid doses optimized from puberty.
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| 18. |
- Falhammar, Henrik, et al.
(author)
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Increased liver enzymes in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
- 2009
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In: Endocrine journal. - 1348-4540. ; 56:4, s. 601-8
-
Journal article (peer-reviewed)abstract
- The aims were assessing liver function tests (LFT) in women with congenital adrenal hyperplasia (CAH) on glucocorticoids. Sixty-one women with genetically verified CAH due to 21-hydroxylase deficiency, aged 18-63 years were compared to 61 controls. Serum alkaline phosphatase (ALP), alanine aminotransferase (ALT), aspartate aminotransferase (AST) and gamma-glutamyl transpeptidase (GGT), anthropometry and fat mass (dual energy X-ray absorptiometry) were measured. ALT and GGT were higher in the entire patient group (p=0.01 and 0.002); AST, GGT and ALP in patients > or =30 years (p=0.007-0.045); all LFT in salt-wasting (p<0.001-0.042); GGT in simple virilizing (p=0.008); ALT, GGT and ALP in Null/Null genotype (p=0.018-0.040); ALT and GGT in I2splice genotype (p<0.001 and 0.011). Using a recently proposed cut-off level for ALT (>0.317 microkat/L), 54% of patients vs 23% of controls had elevated levels (p=0.028). In patients, GGT and ALP correlated with waist circumference and with total body and trunk fat (r=0.274-0.406, p=0.001-0.043). However, ALT, GGT and ALP were increased even in non-obese patients (waist circumference < or =88 cm and body mass index <30 kg/m(2)) (p=0.012-0.045) mainly attributed to the patients > or =30 years who also demonstrated elevated insulin levels and HOMA-indices. In conclusion, compared with controls, women with CAH have higher LFT, in particular patients > or =30 years and those with severe forms, probably reflecting a higher lifetime glucocorticoid exposure. LFT were positively correlated to measurements of body fat. These women might have increased frequency of NAFLD. The finding of higher LFT also in non-obese patients suggests that not only central obesity but also glucocorticoids per se may influence.
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| 19. |
- Falhammar, Henrik, et al.
(author)
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Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
- 2007
-
In: The Journal of clinical endocrinology and metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 92:1, s. 110-6
-
Journal article (peer-reviewed)abstract
- CONTEXT: The chronic, often supraphysiological glucocorticoid doses used in congenital adrenal hyperplasia (CAH) might increase morbidity in cardiovascular disease and diabetes. OBJECTIVE: Our aim was to assess risk factors for cardiovascular disease and diabetes in CAH women. SUBJECTS, METHODS, AND DESIGN: We compared 61 women, 18-63 yr, with CAH due to 21-hydroxylase deficiency with 61 age- and sex- matched controls. Twenty-seven were younger than 30 yr, and 34 were 30 yr or older. Anthropometry, fat and lean mass measured by dual-energy x-ray absorptiometry, serum lipids, insulin, and adrenocortical steroids were studied. MAIN OUTCOME MEASURE: Body composition and cardiovascular risk factors were the main outcome measures. RESULTS: Younger patients and controls had similar waist to hip ratio, lean and fat mass, and insulin. Older patients had higher waist to hip ratio, lean mass, and insulin than controls. Fat mass was similar to controls but higher than in younger patients. Lipid profiles were slightly more favorable in older patients than controls. Gestational diabetes was more common in patients (21% of pregnancies vs. 0, P < 0.026). Few older patients had hypertension, cardiovascular disease, or diabetes. Despite moderate glucocorticoid doses, most patients had suppressed androgens. CONCLUSIONS: No clear evidence of unfavorable cardiovascular risk factors were found. Increased fat mass and higher insulin levels were, however, found in patients older than 30 yr. High frequency of gestational diabetes is a risk marker for future diabetes. Lifelong follow-up, lifestyle modifications, and attempts to adjust and reduce the glucocorticoid doses seem important.
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| 20. |
- Fall, Magnus, 1941, et al.
(author)
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Uro-tarmterapi : Kapitel 2
- 2019
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In: Uro-tarmterapi. Anna-Lena Hellström, Birgitta Lindehall (red.). - Lund : Studentlitteratur. - 9789144122588 ; , s. 21-43
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Book chapter (other academic/artistic)
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