| 1. |
- Carlsson, A., et al.
(författare)
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Prevalence of coeliac disease in Turner syndrome
- 1999
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Ingår i: Acta Pædiatrica. - 1651-2227 .- 0803-5253. ; 88, s. 933-
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Tidskriftsartikel (refereegranskat)abstract
- This study was undertaken to investigate the prevalence of coeliac disease in children and adolescents with Turner syndrome. Eighty-seven children and adolescents with Turner syndrome were screened for IgA- antiendomysium antibodies (EMA) and IgA-antigliadin antibodies (AGA), 5% (4/87) being found to be EMA-positive, and 15% (13/87) to have AGA levels above normal. Of the 10 patients who were either AGA- or EMA-positive and further investigated with intestinal biopsy, four manifested villous atrophy (i.e. all three of the EMA-positive patients, but only one of the seven AGA- positive patients). The results suggest EMA-positivity to be a good immunological marker for use in screening for coeliac disease, and such screening to be justified in patients with Turner syndrome.
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| 2. |
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| 3. |
- Nilsson, K O, et al.
(författare)
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Improved final height in girls with Turner's syndrome treated with growth hormone and oxandrolone.
- 1996
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Ingår i: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 81, s. 635-
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Tidskriftsartikel (refereegranskat)abstract
- The spontaneous growth process in Turner's syndrome is characterized by a progressive decline in height velocity during childhood and no pubertal growth spurt. Therefore, therapy aimed at improving height during childhood as well as increasing final height is desirable for most girls with Turner's syndrome. Forty-five girls with Turner's syndrome, 9-16 yr of age (mean age, 12.2 yr), were allocated to three study groups. Group 1 (n = 13) was initially treated with oxandrolone alone; after 1 yr of treatment, GH without (group 1a; n = 6) or with (group 1b; n = 7) ethinyl estradiol was added. Group 2 (n = 17) was treated with GH plus oxandrolone. Group 3 (n = 15) was treated with GH, oxandrolone, and ethinyl estradiol. The dosage were: GH, 0.1 IU/kg.day; oxandrolone, 0.05 mg/kg.day; and ethinyl estradiol, 100 ng/kg.day. A height of 150 cm or more was achieved in 61%, 75%, and 60% of the girls in groups 1, 2, and 3, respectively. The most impressive increase in height was seen in group 2. In this group the mean final height was 154.2 cm (SD = 6.6), which is equivalent to a mean net gain of 8.5 cm (SD = 4.6) over the projected final height. In group 3, in which ethinyl estradiol was included from the start of therapy, the initially good height velocity decelerated after 1-2 yr of treatment. Their mean final height was 151.1 (SD = 4.6) cm, equivalent to a mean net gain of 3.0 cm (SD = 3.8). A similar growth-decelerating effect of ethinyl estradiol was seen in group 1b. We conclude that in girls with Turner's syndrome who are older than 9 yr of age, treatment with GH in combination with oxandrolone results in significant growth acceleration, imitating that in normal puberty, leading to a more favorable height during childhood. This mode of treatment also results in a significantly increased final height, permitting a great number of the girls to attain a final height of more than 150 cm. However, early addition of estrogen decelerates the height velocity and reduces the gain in height.
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| 4. |
- Arumugam, Ashokan, et al.
(författare)
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Sedentary and physical activity time differs between self-reported ATLS-2 physical activity questionnaire and accelerometer measurements in adolescents and young adults in the United Arab Emirates
- 2023
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Ingår i: BMC Public Health. - : BioMed Central (BMC). - 1471-2458. ; 23:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Most young adults and adolescents in the United Arab Emirates (UAE) do not meet the established internationally recommended physical activity levels per day. The Arab Teen Lifestyle Study (ATLS) physical activity questionnaire has been recommended for measuring self-reported physical activity of Arab adolescents and young adults (aged 14 years to mid-twenties). The first version of the ATLS has been validated with accelerometers and pedometers (r ≤ 0.30). The revised version of the questionnaire (ATLS-2, 2021) needs further validation. The aim of this study was to validate the self-reported subjective sedentary and physical activity time of the ATLS-2 (revised version) physical activity questionnaire with that of Fibion accelerometer-measured data.METHODS: In this cross-sectional study, 131 healthy adolescents and young adults (aged 20.47 ± 2.16 [mean ± SD] years (range 14-25 years), body mass index 23.09 ± 4.45 (kg/m2) completed the ATLS-2 and wore the Fibion accelerometer for a maximum of 7 days. Participants (n = 131; 81% non-UAE Arabs (n = 106), 13% Asians (n = 17) and 6% Emiratis (n = 8)) with valid ATLS-2 data without missing scores and Fibion data of minimum 10 h/day for at least 3 weekdays and 1 weekend day were analyzed. Concurrent validity between the two methods was assessed by the Spearman rho correlation and Bland-Altman plots.RESULTS: The questionnaire underestimated sedentary and physical activity time compared to the accelerometer data. Only negligible to weak correlations (r ≤ 0.12; p > 0.05) were found for sitting, walking, cycling, moderate intensity activity, high intensity activity and total activity time. In addition, a proportional/systematic bias was evident in the plots for all but two (walking and moderate intensity activity time) of the outcome measures of interest.CONCLUSIONS: Overall, self-reported ATLS-2 sedentary and physical activity time had low correlation and agreement with objective Fibion accelerometer measurements in adolescents and young adults in the UAE. Therefore, sedentary and physical activity assessment for these groups should not be limited to self-reported measures.
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| 5. |
- Butler, Rick M., et al.
(författare)
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Model-Based Machine Learning for Joint Digital Backpropagation and PMD Compensation
- 2021
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Ingår i: Journal of Lightwave Technology. - 0733-8724 .- 1558-2213. ; 39:4, s. 949-959
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Tidskriftsartikel (refereegranskat)abstract
- In this article, we propose a model-based machine-learning approach for dual-polarization systems by parameterizing the split-step Fourier method for the Manakov-PMD equation. The resulting method combines hardware-friendly time-domain nonlinearity mitigation via the recently proposed learned digital backpropagation (LDBP) with distributed compensation of polarization-mode dispersion (PMD). We refer to the resulting approach as LDBP-PMD. We train LDBP-PMD on multiple PMD realizations and show that it converges within 1% of its peak dB performance after 428 training iterations on average, yielding a peak effective signal-to-noise ratio of only 0.30 dB below the PMD-free case. Similar to state-of-the-art lumped PMD compensation algorithms in practical systems, our approach does not assume any knowledge about the particular PMD realization along the link, nor any knowledge about the total accumulated PMD. This is a significant improvement compared to prior work on distributed PMD compensation, where knowledge about the accumulated PMD is typically assumed. We also compare different parameterization choices in terms of performance, complexity, and convergence behavior. Lastly, we demonstrate that the learned models can be successfully retrained after an abrupt change of the PMD realization along the fiber.
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| 7. |
- Feldmann, Daneil C., et al.
(författare)
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Investigation of multiple populations highlight VEGFA polymorphisms to modulate anterior cruciate ligament injury
- 2022
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Ingår i: Journal of Orthopaedic Research. - : John Wiley & Sons. - 0736-0266 .- 1554-527X. ; 40:7, s. 1604-1612
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Tidskriftsartikel (refereegranskat)abstract
- Polymorphisms in VEGFA and KDR encoding proteins have been associated with anterior cruciate ligament (ACL) injury risk. We leveraged a collective sample from Sweden, Poland, and Australia to investigate the association of functional polymorphisms in VEGFA and KDR with susceptibility to ACL injury risk. Using a case–control genetic association approach, polymorphisms in VEGFA and KDR were genotyped and haplotypes inferred from 765 controls, and 912 cases clinically diagnosed with ACL rupture. For VEGFA, there was a significant overrepresentation of the rs2010963 CC genotype (p = 0.0001, false discovery rate [FDR]: p = 0.001, odds ratio [OR]: 2.16, 95% confidence interval [CI]: 1.47–3.19) in the combined ACL group (18%) compared to the combined control group (11%). The VEGFA (rs699947 C/A, rs1570360 G/A, rs2010963 G/C) A-A-G haplotype was significantly (p = 0.010, OR: 0.85, 95% CI: 0.69–1.05) underrepresented in the combined ACL group (23%) compared to the combined control group (28%). In addition, the A-G-G construct was significantly (p = 0.036, OR: 0.81, 95% CI: 0.64–1.02) underrepresented in the combined ACL group (12%) compared to the combined CON group (16%). Our findings support the association of the VEGFA rs2010963 CC genotype with increased risk and (ii) the VEGFA A-A-G haplotype with a reduced risk, and are in alignment with the a priori hypothesis. Collectively identifying a genetic interval within VEGFA to be implicated in ACL risk modulation and highlight further the importance of vascular regulation in ligament biology.
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| 10. |
- Häger, Linda A., et al.
(författare)
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Is Visual Prediction Impaired in Adolescents with Autism spectrum Disorder? Event-Related Potentials in a Cued Visual GO/NOGO Task
- 2024
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Ingår i: Clinical EEG and Neuroscience. - 1550-0594 .- 2169-5202.
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Tidskriftsartikel (refereegranskat)abstract
- Aim: Deviant visual processing has been observed in autism spectrum disorder (ASD), manifesting as decreased P1 and P2 components of visual event-related potentials (ERPs). Alterations have been attributed to a failure of Bayesian inference, characterized by hypo-activation of top-down predictive abilities. To test this hypothesis, we measured the visual negativity (vN) as an ERP index of visual preparation hypothesized to mirror predictive brain activity. Method: ERPs in a cued visual GO/NOGO task in 63 adolescents with ASD (IQ > 70, attention-deficit hyperactivity disorder excluded) were compared with ERPs in a sex- and age-matched group of 60 typically developing (TD) controls. Results: The behavioral variables (omissions, commissions, reaction time, and reaction time variability), as well as ERP components reflecting, among other processes, cognitive control (contingent negative variation, P3 GO, P3 NOGO, N2 NOGO) did not differ between the groups. There were group differences in visually based ERPs. Besides P1 and P2 differences, the vN component differentiated the 2 groups with the highest effect size (d = 0.74).Conclusion: This ERP study lends support to the hypothesis suggesting that a Bayesian hypo-prediction could underlie unique perceptual experiences in individuals with ASD. This could lead to a predisposition to perceive the world with reduced influence and modulation from contextual cues, prior experiences, and pre-existing expectations.
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