Pathophysiology and therapeutic options in osteogenesis imperfecta: an update

Brizola, Evelise; Félix, Têmis Maria; Shapiro, Jay R.

doi:10.2147/rred.s96578

Cited by 4 publications

(4 citation statements)

References 99 publications

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“…Therefore, research in this area is important to provide patients with the best possible treatments. There are many reviews on the pre-clinical treatment strategies, but existing therapies for OI are mainly based on an intravenous administration of bisphosphonates, however, with undesirable side effects [25][26][27][50][51][52]. Long-term inhibition of osteoclasts by bisphosphonates may reduce bone quality, leading to non-dynamic bone in which microdamages are not repaired and accumulate, likely causing an overall increase in bone fragility [25,26].…”

Section: Discussionmentioning

confidence: 99%

“…Long-term inhibition of osteoclasts by bisphosphonates may reduce bone quality, leading to non-dynamic bone in which microdamages are not repaired and accumulate, likely causing an overall increase in bone fragility [25,26]. Unusual femoral fractures and delayed teeth eruption have been reported in children after longterm treatment with pamidronate [50].…”

Section: Discussionmentioning

confidence: 99%

“…Other antiresorptive therapies using monoclonal antibodies, such as Denosumab, against receptor activator of nuclear factor kappa-B ligand, Romosozumab against sclerostin (negative regulator of bone formation) or Odanacatib against cathepsin K (involved in the degradation of type I collagen) are currently under investigation in OI [50][51][52]. To improve patients' condition growth hormone, growth factors (e.g., transforming growth factor), vitamin D supplementation are used [25][26][27]50,51].…”

Section: Discussionmentioning

confidence: 99%

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The Stimulating Effect of Rosmarinic Acid and Extracts from Rosemary and Lemon Balm on Collagen Type I Biosynthesis in Osteogenesis Imperfecta Type I Skin Fibroblasts

et al. 2021

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Rosemary extract (RE) and lemon balm extract (LBE) attract particular attention of pharmacists due to their high therapeutic potential. Osteogenesis imperfecta (OI) type I is a heritable disease caused by mutations in type I collagen and characterized by its reduced amount. The aim of the study was to evaluate the effect of the extracts and rosmarinic acid (RA) on collagen type I level in OI skin fibroblasts. Phytochemical analysis of RE and LBE was carried out by liquid chromatography–photodiode array detection–mass spectrometry. The expression of collagen type I at transcript and protein levels was analyzed by qPCR, ELISA, SDS-urea PAGE, and Western blot. In OI patient’s fibroblasts the exposure to the extracts (0.1–100 µg/mL) and RA (0.1–100 µM) significantly increased collagen type I and the best results were obtained with 0.1–10 µM RA and 0.1–10 µg/mL of the extracts. LBE showed a greater stimulating effect than RE, likely due to a higher RA content. Moreover, collagen type III expression and matrix metalloproteinase (MMP-1, -2, -9) activity remained unchanged or decreased. The obtained data support the clinical potential of RA-rich extracts and RA itself in modulating the quantitative defect of type I collagen in type I OI.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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The Stimulating Effect of Rosmarinic Acid and Extracts from Rosemary and Lemon Balm on Collagen Type I Biosynthesis in Osteogenesis Imperfecta Type I Skin Fibroblasts

et al. 2021

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“…Osteogenesis imperfecta (OI) is a rare inherited disorder caused mainly by mutations in the collagen genes COL1A1 or COL1A2 [34][35][36][37]. Collagen Type-I constitutes approximately 80% of human corneal collagen.…”

Section: Associated Genetic Disordersmentioning

confidence: 99%

The role of environment in the pathogenesis of keratoconus

Magalhães¹,

Gonçalves²,

Gatinel

2021

Current Opinion in Ophthalmology

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Purpose of reviewThis study was conducted to demonstrate the importance of the environment in keratoconus (KC) genesis. Recent findingsGenetic-related connective tissue disorders demonstrate the inconsistency of theories regarding KC pathogenesis since no corneal steepening was observed in the majority of these patients. Despite recent advances and decades of research into the genetics of KC, the identification of disease-causing KC genes has been frustrating. Variants found based on genome-wide and next-generation sequencing only seem to account for a small number of cases or play a limited role in KC pathogenesis.

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Determinant Factors of the Quality of Life in Children with Osteogenesis Imperfecta during the COVID-19 Pandemic

Rochmah

Mustikasari²,

Faizi³

et al. 2022

Open Access Maced J Med Sci

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Background: Osteogenesis imperfecta (OI) is a common chronic illness with increasing prevalence. Coronavirus disease 2019 (COVID-19) and large society restriction policies in Indonesia cause problems and might affect the quality of life (QoL) of children with OI. Objective: To evaluate determinant factors that affect OI children's QoL pre and during the first year of the COVID-19 pandemic. Method: This was a cross-sectional study design conducted in the Pediatric Endocrinology Outpatient Clinic, Dr. Soetomo Hospital, Surabaya, Indonesia, during the COVID-19 pandemic in 2020 to assess the patient’s QoL. This study used a diagnostic group with questionnaires. The instrument included the Pediatric Quality of Life Inventory 4.0 Generic Score, a standardized interview questionnaire comprising questions on the participant characteristics and determinant factors pre and during the COVID-19 pandemic. Analysis of determinant factors pre and during the pandemic used McNemar. Correlation between determinant factors and QoL used linear regression for physical and emotional dimensions and logistic regression for social, school, and total score. Result: Of the 22 children with OI, 19 had fear of visiting the hospital (p < 0.001), and 16 had obstacles to visiting the hospital (p < 0.01). The determinant factors for taking calcium and/or vitamin D supplementation pre and during the COVID-19 pandemic affected school functioning (p = 0.015) and the total score (p = 0.027). Conclusion: The significant risk factors pre and during COVID-19 were fear of and obstacles to visiting the hospital. Supplementation of calcium and/or vitamin D pre and during the COVID-19 pandemic significantly impacted school functioning and the total score.

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Pathophysiology and therapeutic options in osteogenesis imperfecta: an update

Cited by 4 publications

References 99 publications

The Stimulating Effect of Rosmarinic Acid and Extracts from Rosemary and Lemon Balm on Collagen Type I Biosynthesis in Osteogenesis Imperfecta Type I Skin Fibroblasts

The Stimulating Effect of Rosmarinic Acid and Extracts from Rosemary and Lemon Balm on Collagen Type I Biosynthesis in Osteogenesis Imperfecta Type I Skin Fibroblasts

The role of environment in the pathogenesis of keratoconus

Determinant Factors of the Quality of Life in Children with Osteogenesis Imperfecta during the COVID-19 Pandemic

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