Osteogenesis imperfecta — Clinical outcomes after a 4-year experience with cyclical intravenous pamidronate therapy

Castro, Luiz Cláudio; Santos, Cristina; Campos, MV; Gameleira, Kallianna Paula Duarte; Rorato, M.G.; Bezerra, Ana Cristina Barreto; Cruz, Cátia Barbosa

doi:10.1016/j.bone.2009.04.045

Cited by 1 publication

(3 citation statements)

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“…Fewer records of cephalometric measurements ( n = 12), relative arm span ( n = 7), body surface area measurements ( n = 6), tibia length ( n = 1) and skinfold thickness ( n = 1) [ 13 , 31 , 37 , 46 , 79 , 80 , 83 , 93 , 95 , 96 , 98 , 99 , 101 , 103 , 112 – 115 , 121 , 122 , 124 , 125 , 129 , 131 – 134 , 139 , 142 , 143 , 149 , 151 , 154 , 158 , 160 – 163 , 166 – 189 ] Oral 45 Most described dentinogenesis imperfecta ( n = 42). Few records included caries ( n = 3), agenesis ( n = 3), taurodontism ( n = 3), temporomandibular problems ( n = 4) and occlusions ( n = 9) [ 29 , 31 , 79 , 85 , 86 , 89 , 90 , 96 , 97 , 100 , 101 , 104 , 111 ...…”

Section: Resultsmentioning

confidence: 99%

“…Fewer records provided data on motor development ( n = 14), age of sitting ( n = 2), age of gait acquisition ( n = 4) and abnormal motor development ( n = 4) [ 13 , 34 , 43 , 82 , 90 , 92 , 95 , 97 , 105 – 108 , 110 – 112 , 116 , 122 , 124 , 125 , 129 , 140 , 147 , 151 , 163 , 164 , 180 , 185 – 188 , 210 – 213 ] Ophtalmological 29 Prevalence of grey and blue sclera is well documented ( n = 27). Few records described other ophthalmological conditions ( n = 1) and vision problems ( n = 2) [ 13 , 31 , 79 , 81 , 85 , 86 , 89 , 90 , 96 , 99 – 101 , 103 , 111 , 115 , 116 , 121 – 124 , 132 – 134 , 139 , 155 , 158 ...…”

Section: Resultsmentioning

confidence: 99%

“…Few records of conditions unrelated to hearing loss were identified ( n = 2). Most records included adults [ 13 , 29 , 31 , 89 , 90 , 93 , 96 , 101 , 106 , 111 , 115 , 116 , 122 , 123 , 190 , 212 , 215 – 219 ] Cardiovascular 15 Records provided clinical heart measurements ( n = 11) and information on valvular disease ( n = 8), while heart failure ( n = 2), hypertension ( n = 3) and atrial fibrillation ( n = 1) were not well-described [ 13 , 29 , 139 , 142 , 151 , 170 , 175 , 182 – 184 , 220 – 224 ] Pulmonary 11 Four records described breathing problems and respiratory disease. Few data on wheezing ( n = 2) and respiratory arrest ( n = 1) were identified.…”

Section: Resultsmentioning

confidence: 99%

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The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

Rapoport¹,

Bober

Raggio

et al. 2023

Orphanet J Rare Dis

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Background Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder primarily characterised by skeletal deformity and fragility, and an array of secondary features. The purpose of this review was to capture and quantify the published evidence relating specifically to the clinical, humanistic, and economic impact of OI on individuals, their families, and wider society. Methods A systematic scoping review of 11 databases (MEDLINE, MEDLINE in-progress, EMBASE, CENTRAL, PsycINFO, NHS EED, CEA Registry, PEDE, ScHARRHUd, Orphanet and Google Scholar), supplemented by hand searches of grey literature, was conducted to identify OI literature published 1st January 1995–18th December 2021. Searches were restricted to English language but without geographical limitations. The quality of included records was assessed using the AGREE II checklist and an adapted version of the JBI cross-sectional study checklist. Results Of the identified 7,850 records, 271 records of 245 unique studies met the inclusion criteria; overall, 168 included records examined clinical aspects of OI, 67 provided humanistic data, 6 reported on the economic impact of OI, and 30 provided data on mixed outcomes. Bone conditions, anthropometric measurements, oral conditions, diagnostic techniques, use of pharmacotherapy, and physical functioning of adults and children with OI were well described. However, few records included current care practice, diagnosis and monitoring, interactions with the healthcare system, or transition of care across life stages. Limited data on wider health concerns beyond bone health, how these concerns may impact health-related quality of life, in particular that of adult men and other family members, were identified. Few records described fatigue in children or adults. Markedly few records provided data on the socioeconomic impact of OI on patients and their caregivers, and associated costs to healthcare systems, and wider society. Most included records had qualitative limitations. Conclusion Despite the rarity of OI, the volume of recently published literature highlights the breadth of interest in the OI field from the research community. However, significant data gaps describing the experience of OI for individuals, their families, and wider society warrant further research to capture and quantify the full impact of OI.

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