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| 2. |
- Johnston, Jennifer J., et al.
(författare)
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Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations
- 2010
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794. ; 31:10, s. 1142-1154
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Tidskriftsartikel (refereegranskat)abstract
- A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here. This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) with features of PHS or GCPS and oral-facial- digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly. These data support previously identified genotype-phenotype correlations and demonstrate a more variable degree of severity than previously recognized. The finding of GLI3 mutations in patients with features of oral-facial-digital syndrome supports the observation that GLI3 interacts with cilia. We conclude that the phenotypic spectrum of GLI3 mutations is broader than that encompassed by the clinical diagnostic criteria, but the genotype-phenotype correlation persists. Individuals with features of either GCPS or PHS should be screened for mutations in GLI3 even if they do not fulfill clinical criteria. Hum Mutat 31:1142-1154, 2010. (C) 2010 Wiley-Liss, Inc.
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| 3. |
- Lombardi, Maria Paola, et al.
(författare)
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Mutation update for the PORCN gene
- 2011
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Ingår i: Human Mutation. - : Wiley-Blackwell. - 1059-7794 .- 1098-1004. ; 32:7, s. 723-728
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Tidskriftsartikel (refereegranskat)abstract
- Mutations in the PORCN gene were first identified in Goltz-Gorlin syndrome patients in 2007. Since then, several reports have been published describing a large variety of genetic defects resulting in the Goltz-Gorlin syndrome, and mutations or deletions were also reported in angioma serpiginosum, the pentalogy of Cantrell and Limb-Body Wall Complex. Here we present a review of the published mutations in the PORCN gene to date and report on seven new mutations together with the corresponding clinical data. Based on the review we have created a Web-based locus-specific database that lists all identified variants and allows the inclusion of future reports. The database is based on the Leiden Open (source) Variation Database (LOVD) software, and is accessible online at http://www.lovd.nl/porcn. At present, the database contains 106 variants, representing 68 different mutations, scattered along the whole coding sequence of the PORCN gene, and 12 large gene rearrangements, which brings up to 80 the number of unique mutations identified in Goltz-Gorlin syndrome patients.
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- Soligard, Torbjorn, et al.
(författare)
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How much is too much? (Part 1) International Olympic Committee consensus statement on load in sport and risk of injury
- 2016
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Ingår i: British Journal of Sports Medicine. - : BMJ PUBLISHING GROUP. - 0306-3674 .- 1473-0480. ; 50:17, s. 1030-1041
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Tidskriftsartikel (refereegranskat)abstract
- Athletes participating in elite sports are exposed to high training loads and increasingly saturated competition calendars. Emerging evidence indicates that poor load management is a major risk factor for injury. The International Olympic Committee convened an expert group to review the scientific evidence for the relationship of load (defined broadly to include rapid changes in training and competition load, competition calendar congestion, psychological load and travel) and health outcomes in sport. We summarise the results linking load to risk of injury in athletes, and provide athletes, coaches and support staff with practical guidelines to manage load in sport. This consensus statement includes guidelines for (1) prescription of training and competition load, as well as for (2) monitoring of training, competition and psychological load, athlete well-being and injury. In the process, we identified research priorities.
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| 5. |
- Schwellnus, Martin, et al.
(författare)
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How much is too much? (Part 2) International Olympic Committee consensus statement on load in sport and risk of illness
- 2016
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Ingår i: British Journal of Sports Medicine. - : BMJ PUBLISHING GROUP. - 0306-3674 .- 1473-0480. ; 50:17, s. 1043-1052
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Tidskriftsartikel (refereegranskat)abstract
- The modern-day athlete participating in elite sports is exposed to high training loads and increasingly saturated competition calendar. Emerging evidence indicates that inappropriate load management is a significant risk factor for acute illness and the overtraining syndrome. The IOC convened an expert group to review the scientific evidence for the relationship of loadincluding rapid changes in training and competition load, competition calendar congestion, psychological load and traveland health outcomes in sport. This paper summarises the results linking load to risk of illness and overtraining in athletes, and provides athletes, coaches and support staff with practical guidelines for appropriate load management to reduce the risk of illness and overtraining in sport. These include guidelines for prescription of training and competition load, as well as for monitoring of training, competition and psychological load, athlete well-being and illness. In the process, urgent research priorities were identified.
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| 6. |
- Windt, Johann, et al.
(författare)
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Getting the most out of intensive longitudinal data: a methodological review of workload-injury studies
- 2018
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Ingår i: BMJ Open. - : BMJ PUBLISHING GROUP. - 2044-6055. ; 8:10
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Forskningsöversikt (refereegranskat)abstract
- Objectives To systematically identify and qualitatively review the statistical approaches used in prospective cohort studies of team sports that reported intensive longitudinal data (ILD) (amp;gt;20 observations per athlete) and examined the relationship between athletic workloads and injuries. Since longitudinal research can be improved by aligning the (1) theoretical model, (2) temporal design and (3) statistical approach, we reviewed the statistical approaches used in these studies to evaluate how closely they aligned these three components. Design Methodological review. Methods After finding 6 systematic reviews and 1 consensus statement in our systematic search, we extracted 34 original prospective cohort studies of team sports that reported ILD (amp;gt;20 observations per athlete) and examined the relationship between athletic workloads and injuries. Using Professor Linda Collins three-part framework of aligning the theoretical model, temporal design and statistical approach, we qualitatively assessed how well the statistical approaches aligned with the intensive longitudinal nature of the data, and with the underlying theoretical model. Finally, we discussed the implications of each statistical approach and provide recommendations for future research. Results Statistical methods such as correlations, t-tests and simple linear/logistic regression were commonly used. However, these methods did not adequately address the (1) themes of theoretical models underlying workloads and injury, nor the (2) temporal design challenges (ILD). Although time-to-event analyses (eg, Cox proportional hazards and frailty models) and multilevel modelling are better-suited for ILD, these were used in fewer than a 10% of the studies (n= 3). Conclusions Rapidly accelerating availability of ILD is the norm in many fields of healthcare delivery and thus health research. These data present an opportunity to better address research questions, especially when appropriate statistical analyses are chosen.
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