Wpływ leczenia usprawniającego na rozwój ruchowy pacjentki z chondrodysplazją przynasadową typu Schmida – opis przypadku

Skworc, Aneta; Osiadło, Grażyna; Sławska, Helena; Jezela‐Stanek, Aleksandra; Marciniak, Sylwia

doi:10.1016/j.pepo.2016.10.006

Cited by 2 publications

(2 citation statements)

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“…Surgical treatment for symptoms of skeletal dysplasia continues to develop in an effort to reduce the number of repeated corrective surgical procedures [ 4 ]. Non-medical treatment includes orthoses and physical therapy, which can help correct particular deformities of the hip and knee, and posture [ 12 ]. Physical therapy may involve strengthening exercises for the lower extremities which, in part, may help with pain management.…”

Section: Introductionmentioning

confidence: 99%

Interventions for improving clinical outcomes and health-related quality-of-life for people living with skeletal dysplasias: an evidence gap map

Moy¹,

Flynn²,

Henríquez³

et al. 2023

Qual Life Res

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Purpose Skeletal dysplasias are rare genetic disorders that are characterized by abnormal development of bone and cartilage. There are multiple medical and non-medical treatments for specific symptoms of skeletal dysplasias e.g. pain, as well as corrective surgical procedures to improve physical functioning. The aim of this paper was to develop an evidence-gap map of treatment options for skeletal dysplasias, and their impact on patient outcomes. Methods We conducted an evidence-gap map to identify the available evidence on the impact of treatment options on people with skeletal dysplasias on clinical outcomes (such as increase in height), and dimensions of health-related quality of life. A structured search strategy was applied to five databases. Two reviewers independently assessed articles for inclusion in two stages: titles and abstracts (stage 1), and full text of studies retained at stage 2. Results 58 studies fulfilled our inclusion criteria. The included studies covered 12 types of skeletal dysplasia that are non-lethal with severe limb deformities that could result in significant pain and numerous orthopaedic interventions. Most studies reported on the effect of surgical interventions (n = 40, 69%), followed by the effect of treatments on dimensions of health quality-of-life (n = 4, 6.8%) and psychosocial functioning (n = 8, 13.8%). Conclusion Most studies reported on clinical outcomes from surgery for people living with Achondroplasia. Consequently, there are gaps in the literature on the full range of treatment options (including no active treatment), outcomes and the lived experience of people living with other skeletal dysplasias. More research is warranted to examine the impact of treatments on health-related quality-of-life of people living with skeletal dysplasias, including their relatives to enable them to make preference- and valued based decisions about treatment.

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Section: Introductionmentioning

confidence: 99%

Interventions for improving clinical outcomes and health-related quality-of-life for people living with skeletal dysplasias: an evidence gap map

Moy¹,

Flynn²,

Henríquez³

et al. 2023

Qual Life Res

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“…In the case of adiponectin, R112C and I164T are examples of variants, which impair trimerization of adiponectin and secretion of the protein into circulation, which leads to reduced adiponectin levels and ultimately to a diabetic phenotype [9]. In the case of collagen X, various mutations in the gC1q domain (conventionally called NC1 for collagens) are associated with Schmid metaphyseal chondrodysplasia (spondylometaphyseal dysplasia), a rare genetic disease characterized by short stature, long bone growth abnormalities and waddling gait [10][11][12][13]. S163R variant of C1QTNF5 is involved in pathogenesis of late-onset retinal macular degeneration due to the weakening of the intracellular connections in RPE mediated by C1QTNF5.…”

Section: Introductionmentioning

confidence: 99%

Natural Mutations Affect Structure and Function of gC1q Domain of Otolin-1

Hołubowicz

Ożyhar

Dobryszycki

2021

IJMS

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Otolin-1 is a scaffold protein of otoliths and otoconia, calcium carbonate biominerals from the inner ear. It contains a gC1q domain responsible for trimerization and binding of Ca2+. Knowledge of a structure–function relationship of gC1q domain of otolin-1 is crucial for understanding the biology of balance sensing. Here, we show how natural variants alter the structure of gC1q otolin-1 and how Ca2+ are able to revert some effects of the mutations. We discovered that natural substitutions: R339S, R342W and R402P negatively affect the stability of apo-gC1q otolin-1, and that Q426R has a stabilizing effect. In the presence of Ca2+, R342W and Q426R were stabilized at higher Ca2+ concentrations than the wild-type form, and R402P was completely insensitive to Ca2+. The mutations affected the self-association of gC1q otolin-1 by inducing detrimental aggregation (R342W) or disabling the trimerization (R402P) of the protein. Our results indicate that the natural variants of gC1q otolin-1 may have a potential to cause pathological changes in otoconia and otoconial membrane, which could affect sensing of balance and increase the probability of occurrence of benign paroxysmal positional vertigo (BPPV).

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Wpływ leczenia usprawniającego na rozwój ruchowy pacjentki z chondrodysplazją przynasadową typu Schmida – opis przypadku

Cited by 2 publications

References 0 publications

Interventions for improving clinical outcomes and health-related quality-of-life for people living with skeletal dysplasias: an evidence gap map

Interventions for improving clinical outcomes and health-related quality-of-life for people living with skeletal dysplasias: an evidence gap map

Natural Mutations Affect Structure and Function of gC1q Domain of Otolin-1

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