Osteogenesis imperfecta: the impact of therapy with teriparatide

IBMS BoneKEy ◽  
2014 ◽  
Vol 11 ◽  
pp. 626
Keyword(s):  
Osteogenesis Imperfecta ◽  
The Impact

Osteogenesis Imperfecta: The Impact of Genotype and Clinical Phenotype on Adiposity and Resting Energy Expenditure

2021 ◽  
Author(s):  
Kaitlin L Ballenger ◽  
Nicol Tugarinov ◽  
Sara K Talvacchio ◽  
Marianne M Knue ◽  
An N Dang Do ◽  
...  
Keyword(s):  
Energy Expenditure ◽  
Osteogenesis Imperfecta ◽  
Type I Collagen ◽  
Resting Energy Expenditure ◽  
Type I ◽  
Healthy Controls ◽  
Type Iv ◽  
Reduced Mobility ◽  
The Impact ◽  
Resting Energy

Abstract Context Mutations in type I collagen or collagen-related proteins cause Osteogenesis Imperfecta (OI). Energy expenditure and body composition in OI could reflect reduced mobility, or intrinsic defects in osteoblast differentiation increasing adipocyte development. Objective Compare adiposity and resting energy expenditure (REE) in OI and healthy controls (HC), for OI genotype- and Type-associated differences. Design/Setting/Participants We studied 90 participants, 30 with OI (13 COL1A1 Gly, 6 COL1A2 Gly, 3 COL1A1 non-Gly, 2 COL1A2 non-Gly, 6 non-COL; 8 Type III, 16 Type IV, 4 Type VI, 1 Type VII, 1 Type XIV) and 60 HC with sociodemographic characteristics/BMI/BMIz similar to the OI group. Participants underwent dual-energy X-ray absorptiometry to determine lean mass and fat mass percentage (FM%) and REE. FM% and REE were compared, adjusting for covariates to examine the relationship of OI genotypes and phenotypic Types. Results FM% did not differ significantly in all patients with OI versus HC (OI: 36.6±1.9%, HC: 32.7±1.2%, p =0.088). FM% was, however, greater than HC for those with non-COL variants (p=0.018). FM% did not differ from HC among OI Types (p’s>0.05). Overall, covariate-adjusted REE did not differ significantly between OI and HC (OI: 1376.5±44.7 kcal/d, healthy controls: 1377.0±96 kcal/d p=0.345). However, those with non-COL variants (p=0.034) and Type VI OI (p=0.04) had significantly lower REE than HC. Conclusions Overall, patients with OI did not significantly differ in either extra-marrow adiposity or REE from BMI-similar HC. However, reduced REE among those with non-COL variants may contribute to greater adiposity.

scholarly journals The impact of severe osteogenesis imperfecta on the lives of young patients and their parents – a qualitative analysis

2013 ◽  
Vol 13 (1) ◽  
Author(s):  
Maman Joyce Dogba ◽  
Christophe Bedos ◽  
Michaela Durigova ◽  
Kathleen Montpetit ◽  
Trudy Wong ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Qualitative Analysis ◽  
Young Patients ◽  
The Impact

scholarly journals The Impact of Bisphosphonates on the Osteoclast Cells of Osteogenesis Imperfecta Patients

2018 ◽  
Vol 11 (2) ◽  
pp. 645-651
Author(s):  
Vandana Dhiman ◽  
Anshita Aggarwal ◽  
Sanjay Kumar Bhadada ◽  
Naresh Sachdeva ◽  
Nirmal Raj Gopinathan ◽  
...  
Keyword(s):  
Bone Turnover ◽  
Osteogenesis Imperfecta ◽  
Bone Turnover Markers ◽  
Caspase 3 ◽  
Mononuclear Cells ◽  
Type Iv ◽  
Turnover Markers ◽  
Adynamic Bone ◽  
Study Participants ◽  
The Impact

Bisphosphonates (BPs) are widely used for treatment of osteogenesis imperfecta (OI). However, prolonged use may be associated with suppression of bone turnover, the exact molecular mechanism of which is poorly understood. The objective of this study was to evaluate the effect of zoledronic acid (ZOL) on precursor osteoclasts by studying caspase 3 activity. A total of 15 children participated in the study (n = 10 OI patients, n= 5 controls). Out of the 10 OI children, 5 had received a cumulative dose of <30 mg and 5 received > 30 mg of ZOL. Isolated mononuclear cells were studied for caspase 3 activity from all study participants. The mean age of study participants was 7 ±1.5 years. Six of them had OI type IV, two had type III and one had types I & II each. Radiographs showed “zebra stripe sign” and dense metaphyses; suggestive of acquired osteosclerosis. Bone turnover markers (PINP and CTx) were suppressed in all OI patients compared to controls. Caspase-3 activity was significantly increased in precursor osteoclasts cells at higher doses of BPs (>30 mg). Overzealous use of ZOL in OI suppresses bone turnover markers (P1NP, CTx) causes osteosclerosis and increased expression of caspase 3 activity in precursor osteoclasts which results in adynamic bone.

scholarly journals Exploring the impact of Osteogenesis Imperfecta on families: A mixed-methods systematic review

2019 ◽  
Vol 12 (3) ◽  
pp. 340-349 ◽  
Author(s):  
Melissa Hill ◽  
Celine Lewis ◽  
Megan Riddington ◽  
Belinda Crowe ◽  
Catherine DeVile ◽  
...  
Keyword(s):  
Systematic Review ◽  
Mixed Methods ◽  
Osteogenesis Imperfecta ◽  
The Impact

scholarly journals Patient Reported Experience of Clinical Care of Osteogenesis Imperfecta (OI) During The COVID-19 Pandemic

2021 ◽  
Author(s):  
Debra Smyth ◽  
Monica Hytiris ◽  
Coreen Kelday ◽  
Ciara McDonnell ◽  
Christine Burren ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Clinical Care ◽  
Remote Consultation ◽  
Physically Active ◽  
Primary Survey ◽  
Patient Reported ◽  
To Come ◽  
Initial Survey ◽  
The Impact

Abstract Background Research on the effects of the COVID-19 pandemic on people with rare diseases is limited. Few studies compare healthcare throughout the progression of the ongoing pandemic.Aims To assess the impact of lockdown on individuals with OI (Osteogenesis Imperfecta) across two consecutive years of the pandemic, to understand what challenges were encountered, and to analyse the experience of remote consultation.Methods Two independent surveys were distributed in August 2020 and April 2021. The primary survey was distributed following the first lockdown, and the second survey built on the experiences reported from the initial survey. The surveys explored four key themes- effects on therapy, alternatives to consultation, effect on mental health, and perceived risks of COVID-19.Results In the primary 2020 survey of the 110 respondents 69 (63%) had at least one appointment delayed due to lockdown, increasing to 89 of the 124 respondents (72%) in the follow-up survey. Of the 110 initial survey participants, 57 (52%) had a remote consultation, increasing to 92 of 124 (74%) in the follow-up survey. In the primary survey 63 of 91 (69%) expressed increasing anxiety due to lockdown, compared with 76 of 124 (61%) in the follow-up survey. In the primary survey 12 of 91 respondents (13%) expressed concerns at not seeing friends and family compared with 103 of 124 (83%) in the follow-up survey. In the second survey of 124 participants there were concerns regarding weight and diet (55, 44%), mobility (70, 56%), pain (71, 57%), and keeping physically active (89, 72%). The majority of participants felt they would have a worse illness and require longer rehabilitation than someone without OI (81 of 117 respondents, and 77 of 120 respectively), and the majority of participants (68%) had been vaccinated at the time of the second survey.Conclusions The pandemic has had widespread effects on both the mental and physical health of those with OI. These repercussions are likely to be felt for years to come. On the other hand, the pandemic has also revealed that in certain situations remote consultation may prove a viable long-lasting alternative to face-to-face appointments.

Stapedotomy in osteogenesis imperfecta patients

2000 ◽  
Vol 114 (6) ◽  
pp. 424-428 ◽  
Author(s):  
E. Ferekidis ◽  
P. Stavroulaki ◽  
I. Vossinakis ◽  
J. Yiotakis ◽  
L. Manolopoulos ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Osteogenesis Imperfecta ◽  
Bone Conduction ◽  
Connective Tissue Disorder ◽  
Long Term Results ◽  
Mixed Hearing Loss ◽  
Post Test ◽  
Operative Findings ◽  
Blue Sclerae ◽  
The Impact

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by osseous fragility, blue sclerae and hearing loss. In order to assess the impact of stapedotomy on improving hearing on OI, a retrospective, one-group, pre-test-post-test design was used to compare the pre-operative and postoperative audiograms of nine OI patients, treated with stapedotomy for their mixed hearing loss. Operative findings included fixation or thickening of the stapes footplate with normal superstructure configuration and hypervascularization of the promontory mucosa. Immediate post-operative results showed a significant improvement (p<0.05) from 250–4000 Hz in air conduction and from 250–2000 Hz in bone conduction. A significant closure of the air-bone gap between 250–2000 Hz was also achieved (p<0.05). The long-term results remained satisfactory with a mean threshold shift of 8 dB HL and an almost unchanged air-bone gap. These satisfactory results and the lack of complications make stapedotomy an appealing method for the management of OI-associated hearing loss.

scholarly journals Outcome of COVID19 in Patients With Osteogenesis Imperfecta: A Retrospective Multicenter Study in Saudi Arabia

2022 ◽  
Vol 12 ◽  
Author(s):  
Abeer N. Alshukairi ◽  
Hazem Doar ◽  
Afaf Al-Sagheir ◽  
Mona A. Bahasan ◽  
Anas A. Sultan ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Osteogenesis Imperfecta ◽  
Genetic Disorder ◽  
Genetic Diseases ◽  
Severe Illness ◽  
Mineral Density ◽  
Restrictive Lung Disease ◽  
Mild Disease ◽  
Multi Center Study ◽  
The Impact

BackgroundAlthough genetic diseases are rare, children with such conditions who get infected with COVID-19 tend to have a severe illness requiring hospitalization. Osteogenesis imperfecta (OI) is a rare genetic disorder of collagen resulting in fractures and skeletal deformities. Kyphoscoliosis, restrictive lung disease, and pneumonia worsen the prognosis of patients with OI. The use of bisphosphonate improves bone mineral density (BMD) and reduces fractures in OI. There is no literature describing the impact of COVID-19 in patients with OI.MethodologyA retrospective multi-center study was performed in three hospitals in Jeddah and Riyadh, Saudi Arabia, from March 1st, 2020, until August 31st, 2021, aiming to evaluate the outcome of COVID-19 in patients with OI. Demographics, vaccination status, underlying kyphoscoliosis, functional status, use of bisphosphonate, BMD, and COVID-19 severity, and course were recorded for all patients.ResultsTwelve cases of confirmed COVID-19 were identified among 146 patients with OI. 9 (75%) of patients were less than 18 years, 6 (50%) were male, 5 (41%) had kyphoscoliosis, and 5 (41%) were wheelchair-bound. 6 (50%) received bisphosphonate, and 7(58%) had normal BMD. All patients had mild disease and did not require hospitalization. None of OI the patients with COVID-19 were fully vaccinated before the infection, and some were ineligible for vaccination.ConclusionPatients with OI and COVID-19 in our study recovered without complications, unlike patients with other genetic diseases. Young age and mild illness contributed to the favorable outcome. Half of the patients received bisphosphonate and had normal BMD.

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