Innowacyjność w podmiotach ekonomii społecznej w Polsce. Studium jakościowe

Karwacki, Arkadiusz; Glińska-Neweś, Aldona

doi:10.15678/es.2015.2.02

Cited by 1 publication

(3 citation statements)

References 57 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Interestingly, the metatarsals were the only long bones to not be statistically smaller in the NF1 +/ex42del minipigs; recently, Faria et al described a potential new phenotype of NF1 in which the second toe of subjects is elevated and super-positioned on the third toe, visual assessment of minipig metatarsal arrangement did not demonstrate evidence of this characteristic 54 . Tibial bowing is a rare but distinctive phenotype in NF1 (3-4%) 37 , we report quantitative results of increased bilateral and unilateral bowing in NF1 minipigs out of the range of wildtype sibling controls, indicating a potential phenotype. Isakson et al described bilateral tibial dysplasia narrowing in two cloned boars using qualitative radiograph assessment but did not note other skeletal abnormalities in the F1 cohort 23 .…”

Section: Discussionmentioning

confidence: 62%

“…We performed an extensive CT-based skeletal measurement assessment in our matched cohort. Short stature is common among NF1 adults with 20-30% below the 3 rd percentile in height 37 . We found statistically smaller long bones (femur, tibia, humerus, ulna, metacarpals) in the NF1 +/ex42del minipigs compared to their wildtype siblings.…”

Section: Discussionmentioning

confidence: 99%

“…Human NF1 subjects often present with skeletal abnormalities including macrocephaly (24-45%), short stature (20-30%), and tibial bowing (3-4%) 3,37 . Skeletal measurements from CT imaging demonstrate shortened stature in NF1 +/ex42del minipigs at 4-months of age ( Fig.…”

mentioning

confidence: 99%

See 2 more Smart Citations

Longitudinal phenotype development in a minipig model of neurofibromatosis type 1

Uthoff

Larson

Sato

et al. 2020

Sci Rep

View full text Add to dashboard Cite

Neurofibromatosis type 1 (NF1) is a rare, autosomal dominant disease with variable clinical presentations. Large animal models are useful to help dissect molecular mechanisms, determine relevant biomarkers, and develop effective therapeutics. Here, we studied a NF1 minipig model (NF1 +/ex42del ) for the first 12 months of life to evaluate phenotype development, track disease progression, and provide a comparison to human subjects. Through systematic evaluation, we have shown that compared to littermate controls, the NF1 model develops phenotypic characteristics of human NF1: [1] café-au-lait macules, [2] axillary/inguinal freckling, [3] shortened stature, [4] tibial bone curvature, and [5] neurofibroma. At 4 months, full body computed tomography imaging detected significantly smaller long bones in NF1 +/ex42del minipigs compared to controls, indicative of shorter stature. We found quantitative evidence of tibial bowing in a subpopulation of NF1 minipigs. By 8 months, an NF1 +/ex42del boar developed a large diffuse shoulder neurofibroma, visualized on magnetic resonance imaging, which subsequently grew in size and depth as the animal aged up to 20 months. the NF1 +/ex42del minipig model progressively demonstrates signature attributes that parallel clinical manifestations seen in humans and provides a viable tool for future translational NF1 research.Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with nearly 100% penetrance and an incidence of approximately 1 in every 3,000 births worldwide 1 . The clinical manifestations of the disorder are highly variable, even among individuals with the same mutation in NF1 1,2 . The most common phenotypic presentations of NF1 include café-au-lait macules (CALMs), axillary and inguinal freckling, optic pathway gliomas, pilocytic astrocytoma, and the presence of neurofibromas and plexiform neurofibromas (PNs) that have the potential to develop into malignant peripheral nerve sheath tumors (MPNSTs) 1-3 . Some individuals with NF1 may exhibit learning disabilities, increased pain, short stature, or macrocephaly at birth 3,4 . Although uncommon, they may also be born with or develop tibial bowing and sphenoid wing dysplasia 4 . Those affected by NF1 are also at increased risk of developing a number of different cancers including glioblastoma, breast cancer, and leukemia 1 . Because of the heterogeneity, impact on quality of life, and significant morbidity associated with NF1, there is a considerable need for research into its underlying pathology and noninvasive monitoring of its progression.Systematic study of NF1 in human subjects is a major challenge as the variability in disease presentation between individuals makes it difficult to create an effective longitudinal cohort. Medical imaging is used in the NF1 population to detect and monitor disease phenotypes including optic-pathway glioma 5-7 , plexiform neurofibroma and MPNST, spinal neurofibroma, tibial bowing and scoliosis. Retrospectively collected imaging studies have assessed prevalence and NF1 findings i...

show abstract

Section: Discussionmentioning

confidence: 62%

Section: Discussionmentioning

confidence: 99%