Osteogenesis Imperfecta (brittle bone disease) Research 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports
This article enhances the genetic, clinical, therapeutic, and radiological understanding of SPARC-related OI.PMID:37758164 | DOI:10.1016/j.ejmg.2023.104857 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvia Storoni Luca Celli Lidiia Zhytnik Katre Maasalu Aare M ärtson Sulev K õks Sergey Khmyzov Andrei Pashenko Alessandra Maugeri Anna Zambrano Mauro Celli Elisabeth M W Eekhoff Dimitra Micha Source Type: research
Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management
We report a family, father and three children, affected with growth retardation, low bone mass and recurrent fractures. None of them had rickets, blue sclera or dentinogenesis imperfecta. ALP serum levels were low and genetics revealed in the four probands heterozygous pathogenic mutations in COL1A2 c.838G > A (p.Gly280Ser) and in ALPL c.1333T > C (p.Ser445Pro). After multidisciplinary meeting, a diagnostic transiliac bone biopsy was indicated for each sibling for therapeutic decision. Bone histology and histomorphometry, as compared to reference values of children with OI type I as well as, to a control pediatric pa...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Nadja Fratzl-Zelman Agn ès Linglart Kim Bin Frank Rauch St éphane Blouin R égis Coutant Aur élie Donzeau Source Type: research
Life span care for patients with skeletal dysplasia: A roadmap
Eur J Med Genet. 2023 Sep 25:104851. doi: 10.1016/j.ejmg.2023.104851. Online ahead of print.ABSTRACTPatients with skeletal dysplasias usually experience health related problems in different parts and systems of the body. Therefore, they face challenges in multiple domains of functioning and health. To address these different domains, interdisciplinary care should be the standard for these patients. The basic algorithm of interdisciplinary care can be similar for patients with different skeletal dysplasias, as many of the problems and needs are generic within different age groups. With increased age the domains in which pat...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Wouter H Nijhuis Marjolein Verhoef Ralph J B Sakkers Source Type: research
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports
This article enhances the genetic, clinical, therapeutic, and radiological understanding of SPARC-related OI.PMID:37758164 | DOI:10.1016/j.ejmg.2023.104857 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvia Storoni Luca Celli Lidiia Zhytnik Katre Maasalu Aare M ärtson Sulev K õks Sergey Khmyzov Andrei Pashenko Alessandra Maugeri Anna Zambrano Mauro Celli Elisabeth M W Eekhoff Dimitra Micha Source Type: research
Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management
We report a family, father and three children, affected with growth retardation, low bone mass and recurrent fractures. None of them had rickets, blue sclera or dentinogenesis imperfecta. ALP serum levels were low and genetics revealed in the four probands heterozygous pathogenic mutations in COL1A2 c.838G > A (p.Gly280Ser) and in ALPL c.1333T > C (p.Ser445Pro). After multidisciplinary meeting, a diagnostic transiliac bone biopsy was indicated for each sibling for therapeutic decision. Bone histology and histomorphometry, as compared to reference values of children with OI type I as well as, to a control pediatric pa...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Nadja Fratzl-Zelman Agn ès Linglart Kim Bin Frank Rauch St éphane Blouin R égis Coutant Aur élie Donzeau Source Type: research
Life span care for patients with skeletal dysplasia: A roadmap
Eur J Med Genet. 2023 Sep 25:104851. doi: 10.1016/j.ejmg.2023.104851. Online ahead of print.ABSTRACTPatients with skeletal dysplasias usually experience health related problems in different parts and systems of the body. Therefore, they face challenges in multiple domains of functioning and health. To address these different domains, interdisciplinary care should be the standard for these patients. The basic algorithm of interdisciplinary care can be similar for patients with different skeletal dysplasias, as many of the problems and needs are generic within different age groups. With increased age the domains in which pat...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Wouter H Nijhuis Marjolein Verhoef Ralph J B Sakkers Source Type: research
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports
This article enhances the genetic, clinical, therapeutic, and radiological understanding of SPARC-related OI.PMID:37758164 | DOI:10.1016/j.ejmg.2023.104857 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvia Storoni Luca Celli Lidiia Zhytnik Katre Maasalu Aare M ärtson Sulev K õks Sergey Khmyzov Andrei Pashenko Alessandra Maugeri Anna Zambrano Mauro Celli Elisabeth M W Eekhoff Dimitra Micha Source Type: research
Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management
We report a family, father and three children, affected with growth retardation, low bone mass and recurrent fractures. None of them had rickets, blue sclera or dentinogenesis imperfecta. ALP serum levels were low and genetics revealed in the four probands heterozygous pathogenic mutations in COL1A2 c.838G > A (p.Gly280Ser) and in ALPL c.1333T > C (p.Ser445Pro). After multidisciplinary meeting, a diagnostic transiliac bone biopsy was indicated for each sibling for therapeutic decision. Bone histology and histomorphometry, as compared to reference values of children with OI type I as well as, to a control pediatric pa...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Nadja Fratzl-Zelman Agn ès Linglart Kim Bin Frank Rauch St éphane Blouin R égis Coutant Aur élie Donzeau Source Type: research
Life span care for patients with skeletal dysplasia: A roadmap
Eur J Med Genet. 2023 Sep 25:104851. doi: 10.1016/j.ejmg.2023.104851. Online ahead of print.ABSTRACTPatients with skeletal dysplasias usually experience health related problems in different parts and systems of the body. Therefore, they face challenges in multiple domains of functioning and health. To address these different domains, interdisciplinary care should be the standard for these patients. The basic algorithm of interdisciplinary care can be similar for patients with different skeletal dysplasias, as many of the problems and needs are generic within different age groups. With increased age the domains in which pat...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Wouter H Nijhuis Marjolein Verhoef Ralph J B Sakkers Source Type: research
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports
This article enhances the genetic, clinical, therapeutic, and radiological understanding of SPARC-related OI.PMID:37758164 | DOI:10.1016/j.ejmg.2023.104857 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvia Storoni Luca Celli Lidiia Zhytnik Katre Maasalu Aare M ärtson Sulev K õks Sergey Khmyzov Andrei Pashenko Alessandra Maugeri Anna Zambrano Mauro Celli Elisabeth M W Eekhoff Dimitra Micha Source Type: research
Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management
We report a family, father and three children, affected with growth retardation, low bone mass and recurrent fractures. None of them had rickets, blue sclera or dentinogenesis imperfecta. ALP serum levels were low and genetics revealed in the four probands heterozygous pathogenic mutations in COL1A2 c.838G > A (p.Gly280Ser) and in ALPL c.1333T > C (p.Ser445Pro). After multidisciplinary meeting, a diagnostic transiliac bone biopsy was indicated for each sibling for therapeutic decision. Bone histology and histomorphometry, as compared to reference values of children with OI type I as well as, to a control pediatric pa...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Nadja Fratzl-Zelman Agn ès Linglart Kim Bin Frank Rauch St éphane Blouin R égis Coutant Aur élie Donzeau Source Type: research
Life span care for patients with skeletal dysplasia: A roadmap
Eur J Med Genet. 2023 Sep 25:104851. doi: 10.1016/j.ejmg.2023.104851. Online ahead of print.ABSTRACTPatients with skeletal dysplasias usually experience health related problems in different parts and systems of the body. Therefore, they face challenges in multiple domains of functioning and health. To address these different domains, interdisciplinary care should be the standard for these patients. The basic algorithm of interdisciplinary care can be similar for patients with different skeletal dysplasias, as many of the problems and needs are generic within different age groups. With increased age the domains in which pat...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Wouter H Nijhuis Marjolein Verhoef Ralph J B Sakkers Source Type: research
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports
This article enhances the genetic, clinical, therapeutic, and radiological understanding of SPARC-related OI.PMID:37758164 | DOI:10.1016/j.ejmg.2023.104857 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvia Storoni Luca Celli Lidiia Zhytnik Katre Maasalu Aare M ärtson Sulev K õks Sergey Khmyzov Andrei Pashenko Alessandra Maugeri Anna Zambrano Mauro Celli Elisabeth M W Eekhoff Dimitra Micha Source Type: research
Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management
We report a family, father and three children, affected with growth retardation, low bone mass and recurrent fractures. None of them had rickets, blue sclera or dentinogenesis imperfecta. ALP serum levels were low and genetics revealed in the four probands heterozygous pathogenic mutations in COL1A2 c.838G > A (p.Gly280Ser) and in ALPL c.1333T > C (p.Ser445Pro). After multidisciplinary meeting, a diagnostic transiliac bone biopsy was indicated for each sibling for therapeutic decision. Bone histology and histomorphometry, as compared to reference values of children with OI type I as well as, to a control pediatric pa...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Nadja Fratzl-Zelman Agn ès Linglart Kim Bin Frank Rauch St éphane Blouin R égis Coutant Aur élie Donzeau Source Type: research
