scholarly journals Genotypic and Phenotypic Characteristics of 29 Patients With Rare Types of Osteogenesis Imperfecta: Average 5 Years of Follow-Up

2021 ◽  
Vol 12 ◽  
Author(s):  
Lei Xi ◽  
Hao Zhang ◽  
Zhen-Lin Zhang
Keyword(s):  
Osteogenesis Imperfecta ◽  
Genetic Disorder ◽  
Healthcare Providers ◽  
Bone Fragility ◽  
Bisphosphonate Therapy ◽  
Mineral Density ◽  
Blood Biochemical ◽  
Significant Difference ◽  
Type V

Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility and abnormal connective tissue. Ninety percent of OI patients are caused by two mutations of COL1A1 and COL1A2, and more investigation was needed to better understand the rare types of OI. We followed up 29 patients with rare types of OI for an average of 5.4 years, and genotype, height, bone mineral density (BMD), blood biochemical indexes, misdiagnosis, and fracture were recorded. IFITM5 gene mutation was found in 18 patients (62.1%), which represents the most common pathogenic gene of rare types of OI in Chinese population. Thirteen cases had once been misdiagnosed, and the initial misdiagnosis rate was 44.8% (13/29). The higher misdiagnosis rate should be paid attention to by clinicians and healthcare providers, and we also give corresponding suggestions. Compared with the non-bisphosphonate treatment group, patients treated with bisphosphonates had higher lumbar spine BMD, fewer fractures, and lower levels of β-CTX and osteocalcin. However, there was no significant difference between OI type V patients and non-type V patients. Our study enriched the knowledge of genotype and phenotype characteristics of OI patients with rare types and bisphosphonate therapy.

scholarly journals Unexpected rapid increase in bone mineral density by bisphosphonate therapy after multiple spinal fractures: a case report

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Hidefumi Koiwai ◽  
Mikio Kamimura ◽  
Jun Takahashi ◽  
Yukio Nakamura ◽  
Hiroyuki Kato
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Fragility Fractures ◽  
Spinal Fractures ◽  
Lumbar Bone Mineral Density ◽  
Bone Fragility ◽  
Bisphosphonate Therapy ◽  
Japanese Woman ◽  
Mineral Density ◽  
Multiple Fractures

Abstract Background Osteoporosis is a serious disease that causes bone fragility fractures and increases mortality. Bisphosphonates are the first-line drugs for osteoporosis. However, the gains in bone mineral density by use of bisphosphonates alone are limited. Case presentation We describe the clinical outcome of a Japanese woman with osteoporosis treated with bisphosphonates after multiple spinal fractures. After 3 years of treatment with the bisphosphonate alendronate, her lumbar bone mineral density and bilateral hip bone mineral density markedly increased by 61.9% and 32.5%, respectively. Conclusion We considered that our patient’s multiple fractures had caused a decrease in bone mineral density, which naturally improved with fracture healing to enhance the increase in bone mineral density with bisphosphonate treatment.

scholarly journals 852. Bridging the Gap in PrEP Provider Training: An Implementation Science Study

2021 ◽  
Vol 8 (Supplement_1) ◽  
pp. S516-S516
Author(s):  
Aditi Ramakrishnan ◽  
Jessica Sales ◽  
Micah McCumber ◽  
Matthew Psioda ◽  
Leah Powell ◽  
...  
Keyword(s):  
Self Efficacy ◽  
Mixed Model ◽  
Healthcare Providers ◽  
Provider Training ◽  
Southern States ◽  
Significant Difference ◽  
Initiation Step ◽  
Prep Implementation ◽  
Exposure Prophylaxis

Abstract Background Training healthcare providers in a variety of clinical settings to deliver pre-exposure prophylaxis (PrEP) is a key component of the Ending the HIV Epidemic (EHE) initiative. Self-efficacy, the individual’s belief in their ability to carry out the steps of PrEP delivery, is a core part of provider training and necessary for successful PrEP implementation. We characterized self-efficacy among providers from family planning (FP) clinics that do not provide PrEP to inform provider training strategies. Methods We surveyed providers (any clinical staff who could screen, counsel, or prescribe PrEP) from FP clinics in 18 Southern states (Feb-June 2018, N=325 respondents from 224 clinics not providing PrEP) using contraception- and PrEP-specific self-efficacy questions (overall and grouped into PrEP delivery steps: screening, initiation, and follow-up). We compared self-efficacy scores (5-point Likert scale) by prescriber status, between PrEP delivery steps, and used linear mixed models to analyze provider-, clinic-, and county-level covariates associated with overall PrEP self-efficacy. Results Among 325 FP providers, self-efficacy scores were lowest in the PrEP initiation step, higher in follow-up, and highest in screening (p < 0.0001, Table). Mean overall PrEP self-efficacy scores were significantly higher among prescribers compared to non-prescribers (p < 0.0001). However, providers reported lowest self-efficacy regarding insurance navigation for PrEP with no significant difference by prescriber status. The mixed model demonstrated overall PrEP self-efficacy was positively associated with favorable PrEP attitudes among non-prescribers, PrEP knowledge among prescribers, and contraception self-efficacy in both groups, but was not associated with availability of insurance navigation on-site or other covariates (Figure). Provider Self-Efficacy along the PrEP Delivery Model stratified by prescriber status Conclusion FP providers reported low confidence in their ability to perform the steps that comprise PrEP initiation. Provider training focused on elements of PrEP initiation are critical to improve PrEP implementation and EHE initiatives. Alternatively, programs employing referral or telehealth models to support the PrEP initiation step can successfully bridge this gap. Disclosures All Authors: No reported disclosures

Abstract 256: The Differences in Predictors of Osteoporosis between Genders Using Warfarin

2016 ◽  
Vol 9 (suppl_2) ◽  
Author(s):  
Aseel Hadi Abdulameer Alhashimi ◽  
Hadeer Akram Abdulrazzaq Al-Ani ◽  
Iman Nazar Talib Al-Ani ◽  
Syed Azhar Syed Sulaiman ◽  
Hanan Hussein Hussein
Keyword(s):  
Bone Fragility ◽  
World Health ◽  
Mineral Density ◽  
T Score ◽  
Significant Difference ◽  
Postmenopausal Status ◽  
Chronic Progressive Disease ◽  
One Year ◽  
Definition Of ◽  
Health Organization

Background: Osteoporosis, chronic, progressive disease of multifactorial etiology, is systemic skeletal disease characterized by low bone mass and microarchitectural deterioration of bone tissue with consequent increase in bone fragility. It is most common metabolic bone disease in sexes, races, and ages, therefore, screening at-risk population is essential. Warfarin increases the risk of osteoporosis because of its acting as vitamin K antagonist which is essential as co- factor in bone formation. Objectives: is to determine which gender and race (Malay, Chinese, and Indian) are more affected by the risk of osteoporotic condition and as osteopenia and osteoporosis dependent on definition of World Health Organization which based on bone mineral density (BMD) for each standard deviation (SD) reduction in BMD the relative risk of osteoporosis is increase 1.5-3 times. Methods: quantitative ultrasound machine is used to measure the T-score (BMD) for 270 subjects were divided in two groups; first group involved males and the second involved females. The subjects were also categorised based on using of warfarin more than one year of therapy and compared which factures influence on reduction of BMD. Results: There were 149 females showed significant difference of mean T-score of them when divided in two groups, the first group females less or equal to50 year’s old, non-using warfarin, premenopausal status, females had no history of fracture. Second group included females more than 50 years old, using warfarin more than one year, postmenopausal status, and had history with fractures. While no significant difference for males based on warfarin use. Results showed, Chinese females had more risk of osteoporosis (osteopinia, osteoporosis), than females non-using warfarin (odds ratio [OR] =2.4, 95% CI: 1.04- 5.75). Finally 25% changing of T-score for females was explained by interactions of risk factors; first using of warfarin more than 1 year and races and the second for using of warfarin more than one year and patients aged more than 50 years old. Conclusion: Chinese females with age more than 50 years old are more susceptible for the lower levels of BMD when they used warfarin therapy more than one year.

scholarly journals Dentinogenesis Imperfecta and Caries in Osteogenesis Imperfecta among Vietnamese Children

2021 ◽  
Vol 9 (5) ◽  
pp. 49
Author(s):  
Huong Thi Thu Nguyen ◽  
Dung Chi Vu ◽  
Duc Minh Nguyen ◽  
Quang Dinh Dang ◽  
Van Khanh Tran ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Genetic Disorder ◽  
Collagen Type I ◽  
Bone Fragility ◽  
Open Bite ◽  
Type I ◽  
Dentinogenesis Imperfecta ◽  
Type Iv ◽  
Brown Discoloration ◽  
Study Participants

Osteogenesis imperfecta (OI) is a genetic disorder characterized by increased bone fragility and low bone mass, caused mainly by mutations in collagen type I encoding genes. The current study aimed to evaluate dentinogenesis imperfecta (DI), oral manifestations and caries status of OI children. Sixty-eight children (41 males, 27 females) aged from 3 to 17 years old (mean 9 ± 4.13) participated in the study. Participants were classified into three OI type groups (I—2 cases, III—31 cases and IV—35 cases). Clinical examination and an orthopantomogram were used to obtain prevalences and associations of DI, caries status, malocclusion, crossbite, open bite, eruption, impaction and missing teeth with OI. The prevalence of DI among OI patients was 47.1%, more common in OI type III than type IV. The yellow-brown discoloration type was more vulnerable to attrition than the opalescent-grey one in the primary dentition. OI seemed not to have a high risk of caries; the prevalence of caries was 69.1%. A high incidence of malocclusion, crossbite and open bite was observed. In-depth oral information would provide valuable data for better dental management in OI patients. Parents and general doctors should pay more attention to dental care to prevent caries and premature tooth loss.

scholarly journals Individualized treatment with denosumab in children with osteogenesis imperfecta – follow up of a trial cohort

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Heike Hoyer-Kuhn ◽  
Mirko Rehberg ◽  
Christian Netzer ◽  
Eckhard Schoenau ◽  
Oliver Semler
Keyword(s):  
Bone Mineral Density ◽  
Lumbar Spine ◽  
Side Effects ◽  
Osteogenesis Imperfecta ◽  
Bone Mineral ◽  
Bone Pain ◽  
Mineral Density ◽  
Osteoclastic Activity ◽  
Activity Marker

Abstract Background Osteogenesis imperfecta (OI) is a rare disease leading to hereditary bone fragility. Nearly 90% of cases are caused by mutations in the collagen genes COL1A1/A2 (classical OI) leading to multiple fractures, scoliosis, short stature and nonskeletal findings as blue sclera, hypermobility of joints, bone pain and delayed motor function development. Bisphosphonates are used in most moderate and severely affected patients assuming that an increase of bone mineral density might reduce fractures and bone pain in patients with OI. Denosumab as a RANK ligand antibody inhibiting osteoclast maturation has been approved for osteoporosis treatment in adults. First data from small clinical trials promised a high efficacy of Denosumab in children with OI. Aim of this analysis was a retrospective evaluation of an individualized biomarker-associated treatment regime with Denosumab in 10 children with classical OI which were followed for 1 year after their participation in a pilot trial with Denosumab. Therefore urinary deoxypyridinoline levels were evaluated frequently as an osteoclastic activity marker and depending on that levels Denosumab injections were scheduled individually. Methods Ten patients (age range: 6.16–12.13 years; all participated in the former OI-AK phase 2 trial (NCT01799798)) were included in the follow-up period. Denosumab was administered subcutaneously depending on the individual urinary excretion course of deoxypyridinoline (DPD/Crea) as osteoclastic activity marker with 1 mg/kg body weight. DPD/Crea levels were evaluated before denosumab administration and afterwards. If patients present after an initial decrease after injection with a re-increase up to the DPD/crea level before Denosumab injection next dosage was planned. Changes of areal bone mineral density (aBMD) using dual energy x-ray absorptiometry of the lumbar spine after 12 month was evaluated. Safety was assessed by bone metabolism markers and side effect reporting. Results During follow-up mean relative change of lumbar aBMD was − 6.4%. Lumbar spine aBMD z-Scores decreased from − 1.01 ± 2.61 (mean ± SD) to − 1.91 ± 2.12 (p = 0.015). Mobility changed not significantly (GMFM-88 -6.49 ± 8.85% (p = 0.08). No severe side effects occurred. Dose intervals could be extended in the mean from 12 weeks previously to 20.3 weeks. Conclusions On average, it was possible to prolong the intervals between drug administrations and to reduce the total dose about by 25% without a decrease of mobility or change of vertebral shape despite a reduction of lumbar aBMD during 1 year of biomarker-directed Denosumab treatment. Further trials are necessary to balance side effects and highest efficacy in children.

Neurosurgical implications of osteogenesis imperfecta in children

2008 ◽  
Vol 1 (3) ◽  
pp. 229-236 ◽  
Author(s):  
Deanna Sasaki-Adams ◽  
Abhaya Kulkarni ◽  
James Rutka ◽  
Peter Dirks ◽  
Michael Taylor ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Genetic Disorder ◽  
Care Center ◽  
Spinal Fractures ◽  
Basilar Invagination ◽  
Bone Fragility ◽  
Shunt Insertion ◽  
Collagen Formation ◽  
Minimal Trauma ◽  
Sick Children

✓Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by disruption of normal collagen formation resulting in varying degrees of skeletal vulnerability, ligamentous laxity, and scleral discoloration. Children with OI may suffer from complex neurosurgical problems affecting the brain and spine. The authors sought to determine the neurosurgical implications of OI in a cohort of patients treated at a quaternary care center for pediatrics. The authors reviewed the case histories of 10 children with OI treated by the neurosurgical service at the Hospital for Sick Children in Toronto between January 1988 and March 2007. The cases of 4 of these children are highlighted in the article. The most common neurosurgical conditions encountered in this cohort included macrocephaly in 5 patients, subdural hematoma in 3 patients, epidural hematoma in 2 patients, and hydrocephalus in 3 patients. Basilar invagination and spinal fractures were observed in 20% of the cohort. Although some patients could be treated nonoperatively, several required craniotomy for clot evacuation, decompression, and spinal fixation for fracture or basilar invagination, and cerebrospinal fluid shunt insertion. Neurosurgical conditions affecting patients with OI include macrocephaly, the development of an acute intracranial hematoma after often minimal trauma, the development of chronic subdural fluid collections that may require drainage, hydrocephalus (both communicating and noncommunicating), basilar invagination, and subaxial spinal fractures. Surgery may be complicated in some children because of the underlying bone fragility and bleeding diathesis commonly observed in patients with OI.

Intravenous pamidronate for treatment of osteogenesis imperfecta in Indian children

2021 ◽  
pp. 004947552098269
Author(s):  
Ira Shah ◽  
Akshat Goel ◽  
Naman S Shetty ◽  
Ashok Johari
Keyword(s):  
Bone Mineral Density ◽  
Osteogenesis Imperfecta ◽  
Bone Mineral ◽  
Fragility Fractures ◽  
Bone Fragility ◽  
Fracture Rate ◽  
Spinal Bone Mineral Density ◽  
Mineral Density ◽  
Indian Children ◽  
Intravenous Pamidronate

Osteogenesis imperfecta is characterised by low bone mineral density, bone fragility, fractures and deformity. We present five such children treated with intravenous pamidronate, which resulted in a decrease of fracture rate and increase in spinal bone mineral density.

scholarly journals Dental behavior management of a patient with osteogenesis imperfecta type V: case report

2020 ◽  
Vol 28 (87) ◽  
Author(s):  
Danilo Cassiano Ferraz ◽  
Ana Luiza Rodrigues Ribeiro ◽  
Ronan Machado de Alcântra ◽  
Alessandra Maia de Castro ◽  
Fabiana Sodré de Oliveira ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Behavior Management ◽  
Parental Education ◽  
Bone Fractures ◽  
Pediatric Dentistry ◽  
Bone Fragility ◽  
Osteogenesis Imperfecta Type ◽  
Dental Biofilm ◽  
Stabilization Technique ◽  
Type V

Aim: the aim of this study is to report a case of a four-year-old male patient diagnosed with Osteogenesis Imperfecta (OI) type V and the dental care performed.  Material and method: the patient has been monitored by a multidisciplinary team composed by Pediatric Dentistry, Nurse and Nutritionist at a Special Patients Center in Dentistry Hospital on the Federal University of Uberlândia since one month of life. It was reported that a child had already suffered several bone fractures and currently he has been using calcium carbonate, D vitamin and pamidronate. Results: the proposed intervention was dental preventive strategies by parental education, caries risk assessment and controlling the dental biofilm with professional prophylaxis. But, due to the uncooperative behavior, it was used the active protective stabilization technique and mouth opener. Conclusion: it was concluded that due to the bone fragility and the risk of fractures, it is important a careful placement of the patient on the dental chair. Also, the correct use of basic auxiliary devices and advanced techniques of behavior management were relevant.

scholarly journals Factors Associated With Inadequate Response to Bisphosphonate Therapy in Patients With Osteoporosis in Real-Life Clinical Practice: a Single-Center Retrospective Analysis of 300 Patients

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A245-A246
Author(s):  
Luciana Pinto Valadares ◽  
Bruno Silva de Araujo Ferreira ◽  
Bernardo Matos Cunha ◽  
Larissa Aniceto Moreira ◽  
Frederico Gideoni Albinati Batista ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Real Life ◽  
Bisphosphonate Therapy ◽  
Categorical Variables ◽  
Inadequate Response ◽  
Oral Bisphosphonates ◽  
Single Center ◽  
Mineral Density ◽  
Factors Associated

Abstract Introduction: Bone mineral density (BMD) measurement by dual X-ray absorptiometry (DXA) is a useful tool to monitor response to osteoporosis treatment in clinical practice. Despite bisphosphonates therapy, some patients may exhibit bone loss during treatment for different reasons. These patients may have greater fracture risk than responders and may have unrecognized secondary causes that require further attention and treatment. Objectives: To identify factors associated with inadequate response (IR) to bisphosphonates therapy in patients with osteoporosis in real-life clinical practice. Methods: This is a single-center case-control study of patients with osteoporosis treated with bisphosphonates as recommended. Baseline and follow-up (12–24 months/apart) DXA scans were performed on same device (GE-Lunar Prodigy). IR was defined as loss of BMD greater than the least significant change (LSC) on the follow-up DXA. Clinical, biochemical and densitometric parameters of patients with IR were compared to responders using t-test or Mann-Whitney test (continuous), or chi-square test (categorical variables), as appropriated. We used logistic regression to assess the association magnitude between exposures and IR. Results: From 300 patients included from 2014 to 2018 (13% males, mean age 68 ±10 years), 198(66%) were treated with oral bisphosphonates and 102(34%) with zoledronic acid (ZA). IR was observed in 44(15%) patients. All parameters were similar at baseline, except for greater prevalence of oral bisphosphonates (82% vs 63%, p=0.016) and anticonvulsants use (18% vs 7%, p=0.015) in patients with IR compared to responders. Additionally, patients with IR exhibited a lower % change in CTX following therapy in comparison to responders (median -37% [IQR -68; -16%] vs -57% [-74; -32], p=0.029, respectively), and higher serum CTX levels after treatment (median 236pg/mL [IQR 162; 344] vs 165pg/mL [119; 254], p=0.004). The likelihood of IR was greater with oral bisphosphonates then with ZA (OR 2.61, IC95% 1.16–5.81, p=0.002), and with anticonvulsants use (OR 2.94. IC95% 1.19–7.25, p=0.019). The association with IR persisted for both variables (p≤0.01), when accounted simultaneously in the same model, along with age and gender. Conclusion: Inadequate bisphosphonate response was present in 15% of individuals, which was independently associated with anticonvulsant use and particularly among those on oral bisphosphonate therapy rather than ZA. This knowledge may help to clinically identify potential modifiable factors related to unresponsiveness and to optimize treatment accordingly.

scholarly journals Gender-Related Impact of Sclerostin Antibody on Bone in the Osteogenesis Imperfecta Mouse

2021 ◽  
Vol 12 ◽  
Author(s):  
Mickaël Cardinal ◽  
Antoine Chretien ◽  
Thomas Roels ◽  
Sébastien Lafont ◽  
Michael S. Ominsky ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Bone Mineral ◽  
Long Bone ◽  
X Rays ◽  
Mineral Density ◽  
Male And Female ◽  
Bone Parameters ◽  
Female Mice ◽  
Significant Difference ◽  
Sclerostin Antibody

Osteogenesis imperfecta (OI), which is most often due to a collagen type 1 gene mutation, is characterized by low bone density and bone fragility. In OI patients, gender-related differences were reported, but data in the literature are not convergent. We previously observed that sclerostin antibody (Scl-Ab), which stimulates osteoblast Wnt pathway via sclerostin inactivation, improved spine and long-bone parameters and biomechanical strength in female oim/oim mice, a validated model of human type 3 OI. Here, we wanted to highlight the effect of Scl-Ab on male oim/oim bones in order to identify a possible distinct therapeutic effect from that observed in females. According to the same protocol as our previous study with female mice, male wild-type (Wt) and oim/oim mice received vehicle or Scl-Ab from 5 to 14 weeks of age. Clinimetric and quantitative bone parameters were studied using X-rays, peripheral quantitative computed tomography, microradiography, and dynamic histomorphometry and compared to those of females. Contrary to Wt mice, male oim/oim had significantly lower weight, snout–sacrum length, and bone mineral content than females at 5 weeks. No significant difference in these clinimetric parameters was observed at 14 weeks, whereas male oim showed significantly more long-bone fractures than females. Scl-Ab improved bone mineral density and bone volume/total volume ratio (BV/TV) of vertebral body in Wt and oim/oim, without significant difference between male and female at 14 weeks. Male vehicle oim/oim had a significantly lower cortical thickness (Ct.Th) and BV/TV of tibial diaphysis than female and showed a higher number of fractures at 14 weeks. Scl-Ab increased midshaft periosteal apposition rate in such a way that tibial Ct.Th of male oim/oim was not significantly different from the female one at 14 weeks. The number of fractures was lower in male than female oim/oim after 14 weeks of Scl-Ab treatment, but this difference was not significant. Nevertheless, Scl-Ab–treated oim/oim male and female mice remained smaller than the Wt ones. In conclusion, our results highlighted differences between male and female oim/oim at 4 and 14 weeks of age, as well as some male-specific response of cortical bone to Scl-Ab. These gender-related particularities of oim/oim should be considered when testing experimental treatments.

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