| 1. |
- Fanjul, María, et al.
(författare)
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Tethered cord in patients affected by anorectal malformations : a survey from the ARM-Net Consortium
- 2017
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Ingår i: Pediatric Surgery International. - : Springer Science and Business Media LLC. - 0179-0358 .- 1437-9813. ; 33:8, s. 849-854
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: The goal of this study was to determine the degree of consensus in the management of spinal cord tethering (TC) in patients with anorectal malformation (ARM) in a large cohort of European pediatric centers. Methods: A survey was sent to pediatric surgeons (one per center) members of the ARM-Net Consortium. Results: Twenty-four (86%) from ten different countries completed the survey. Overall prevalence of TC was: 21% unknown, 46% below 15, and 29% between 15 and 30%. Ninety-six agreed on screening all patients for TC regardless the type of ARM and 79% start screening at birth. Responses varied in TC definition and diagnostic tools. Fifty percent of respondents prefer ultrasound (US), 21% indicate either US or magnetic resonance (MRI) based on a pre-defined risk of presenting TC, and 21% perform both. Discrepancy exists in complementary test: 82% carry out urodynamic studies (UDS) and only 37% perform somatosensory-evoked potentials (SSEP). Prophylactic untethering is performed in only two centers (8%). Conclusions: Survey results support TC screening in all patients with ARM and conservative management of TC. There is discrepancy in the definition of TC, screening tools, and complementary test. Protocols should be developed to avoid such variability in management.
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| 2. |
- Vinçon, Sabine, et al.
(författare)
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Ecological validity of the German Bruininks-Oseretsky Test of Motor Proficiency – 2nd Edition
- 2017
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Ingår i: Human Movement Science. - : Elsevier. - 0167-9457 .- 1872-7646. ; 53, s. 45-54
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Tidskriftsartikel (refereegranskat)abstract
- The diagnosis of Developmental Coordination Disorder (DCD) is based on poor motor coordination in the absence of other neurological disorders. In order to identify the presence of movement difficulties, a standardised motor assessment is recommended to determine the extent of movement problems which may contribute to deficits in daily task performance. A German version of the Bruininks-Oseretsky Test of Motor Proficiency, Second Edition (German BOT-2) was recently published. This study aimed to determine the ecological validity of the German BOT-2 by considering the relationship between assessment of fundamental motor skills with the BOT-2 and performance of everyday motor activities as evaluated by parents. This study used data obtained from the German BOT-2 standardisation study (n = 1.177). Subtests were compared with theoretically corresponding tasks via parental ratings of overall fine and gross motor abilities and performance in six typical motor activities. Non-parametric Jonckheere Terpstra test was used to identify differences in ordered contrasts. Subtests reflecting ‘Strength’, ‘Running Speed and Agility’, ‘Upper-Limb Coordination’, ‘Balance’, and ‘Fine Motor Precision’ were associated with parental evaluation of gross motor skills (p < 0.001). The subtest ‘Fine Motor Integration’ significantly correlated with parental ratings of females’ fine motor skills. Parental ratings of males’ fine motor skills were associated with three further subtests. Regarding everyday motor activities, the first three fine motor BOT-2 subtests were associated with parent evaluations of drawing, writing and arts and crafts (p < 0.001). Gross motor subtests of ‘Bilateral Coordination’ and ‘Balance’ showed no relationship to bike riding or performance in sports. Subtests of ‘Upper-Limb Coordination’ and ‘Strength’ showed significant correlations with sports, ball games and cycling. The results of this study suggest that the closer the proximity in the nature of the motor skills assessed in the German BOT-2 to daily motor tasks, the stronger the relationship between the clinical test and parental report of everyday performance of their child. The body functions tested in the German BOT-2, and hypothesized to underpin certain skills, were not automatically relevant for specific activities undertaken by German children. Future research should investigate the relationships of the various BOT-2 constructs for diagnosis of DCD.
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| 3. |
- Zhang, Rong, et al.
(författare)
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ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development
- 2017
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Previously genome-wide association methods in patients with classic bladder exstrophy (CBE) found association with ISL1, a master control gene expressed in pericloacal mesenchyme. This study sought to further explore the genetics in a larger set of patients following-up on the most promising genomic regions previously reported. Genotypes of 12 markers obtained from 268 CBE patients of Australian, British, German Italian, Spanish and Swedish origin and 1,354 ethnically matched controls and from 92 CBE case-parent trios from North America were analysed. Only marker rs6874700 at the ISL1 locus showed association (p = 2.22 x 10(-08)). A meta-analysis of rs6874700 of our previous and present study showed a p value of 9.2 x 10(-19). Developmental biology models were used to clarify the location of ISL1 activity in the forming urinary tract. Genetic lineage analysis of Isl1-expressing cells by the lineage tracer mouse model showed Isl1-expressing cells in the urinary tract of mouse embryos at E10.5 and distributed in the bladder at E15.5. Expression of isl1 in zebrafish larvae staged 48 hpf was detected in a small region of the developing pronephros. Our study supports ISL1 as a major susceptibility gene for CBE and as a regulator of urinary tract development.
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