Osteogenesis Imperfecta With Cerebral Atherosclerosis: A Family Report

Background: Osteogenesis imperfecta (OI) is a rare hereditary connective tissue disease. It is mainly associated with pathogenic variants in COL1A1 or COL1A2. Patients with OI usually have repeated history of bone fractures. Besides, osteogenesis imperfecta is associated with some cardiovascular complications, such as aortic and mitral valve dysfunction, aneurysm and aortic dissection. But the relationship between these diseases has not been well studied. Case Presentation: A 55-year-old man was admitted to our hospital mainly due to “dizziness for 2 hours”. He had a 4-month history of hypertension and a history of smoking for more than 20 years. He had no history of drinking alcohol. He had hunchback and O-type legs. Besides, the patient and some of his relatives had a history of repeated brittle fractures,which was considered as “osteogenesis imperfecta”. The clinical manifestation of OI in this family varies to a certain extent, from simple tooth disintegration to severe fracture deformity. The most serious patient of his family was unable to walk. CT and MRI revealed multiple systemic arteriosclerosis, including vertebral artery, posterior inferior cerebellar artery, cervical artery, and bilateral cerebellar multiple lacunar cerebral infarction. The blood sample of the patient was tested by whole exome sequencing, and the saliva samples of the patient’s family members were tested by Sanger sequencing. A mutation c.3159 + 2T > A was detected in COL1A2 gene associated with OI, also found in the other affected family members, which had not been reported before. It was a segregating mutation in the family. The clinical severity of the family members was heterogeneous. Discussion: This case is worth learning from the following aspects: 1. A pathogenic heterozygous mutation, c.3159 + 2T > A was detected in COL1A2 gene in the patient with OI, which is not reported in previous cases of OI. 2. The clinical manifestation of OI in this family varies to a certain extent, from simple tooth disintegration to severe fracture deformity. The most serious patient of his family was unable to walk. It presented the clinical heterogeneity of OI. Further basic researh on the mutation site of related gene of OI are needed. 3. We found the possibility of developing cerebral atherosclerosis in patients with OI. Therefore, patients with OI should give up smooking, exercise properly and keep on a low fat diet. They should pay attention to control blood pressure and blood lipid so as to reduce the risk of atherosclerosis. Conclusion: A c.3159 + 2T>A mutation in COL1A2 gene detected by whole exome sequencing was the causing reason of OI, the discovery enriched the gene mutation spectrum of OI. We also found that OI may have relationship with premature atherosclerosis, and the abnormal bones of the cervical spine may lead to vertebrobasilar ischemia.

SAT0459 EVALUATION OF THE PREVALENCE AND THE MANAGEMENT OF OSTEOPOROTIC FRACTURES IN PATIENTS HOSPITALIZED AT NANCY UNIVERSITY HOSPITAL (FRANCE) IN 2017.

Background:Osteoporotic fractures are a major public health concern because of their consequences in morbidity, costs and mortality. In the meantime, historically postfracture osteoporosis medication use rates have been poor.Objectives:The aim is to analyze the management of osteoporosis in patients hospitalized for osteoporotic fractures (OF) at Nancy University Hospital (France) in 2017.Methods:Total number of hospitalized patients and hospital stays were extracted by the Department of Medical Information (DIM) which selected departments with at least forty hospitalizations with Medical Unit Summary related to a diagnosis of fracture or osteoporosis. Hospitalizations not concerned by a recent OF were excluded. Data on fractures, patient characteristics, risk factors for OF and fall, management of osteoporosis, discharge status, stay duration, were studied from patient medical records. Prevalence of OF stays, management of osteoporosis and factors associated with duration of stay were analyzed.Results:Out of a total of 153,840 hospitalizations, 918 hospitalizations (844 patients, mean age 74.5 years ± 13.6, 74.5% women) concern an OF. The prevalence of hospitalizations for OF was 0.6% of total hospitalizations and 17.9% of total hospitalizations for fractures. Among the 844 patients, 85.7% had a severe fracture (vertebral fracture: 56.2%, hip fracture: 24.1%), 16.5% had a non-severe fracture, and 8.5% had a fracture cascade in the year. At discharge from hospital, 11.7% of patients received a specific treatment for osteoporosis. Longer stay duration was associated with age, severe fractures, Groll index and discharge status.Conclusion:Nearly one hospitalized fracture in five is osteoporotic, while only one in ten patients is treated for osteoporosis. Stay duration increased with age and comorbidities. This encourages the development of early prevention, screening and treatment strategies for osteoporosis.References:[1]Hernlund E, Svedbom A, Ivergård M, Compston J, Cooper C, Stenmark J, et al. Osteoporosis in the European Union: medical management, epidemiology and economic burden. A report prepared in collaboration with the International Osteoporosis Foundation (IOF) and the European Federation of Pharmaceutical Industry Associations (EFPIA). Arch Osteoporos. 2013;8:136.[2]Johnell O, Kanis JA. An estimate of the worldwide prevalence and disability associated with osteoporotic fractures. Osteoporos Int. 2006 Oct 19;17(12):1726–33.[3]Giangregorio L, Papaioannou A, Cranney A, Zytaruk N, Adachi JD. Fragility Fractures and the Osteoporosis Care Gap: An International Phenomenon. Semin Arthritis Rheum. 2006 Apr;35(5):293–305.Disclosure of Interests:None declared

New Method of Surgical Treatment of Patients with a Fracture of the Proximal Humerus on the Background of Critical Osteoporosis

Fractures associated with osteoporosis, due to the high prevalence and high percentage of related complications, are a serious problem for modern traumatology and orthopedics. Among all injuries of the upper extremities, fractures in the proximal humerus occur in 32-65 % of cases. Fractures of the proximal humerus account for 4-5 % of all fractures and 50 % of fractures of the humerus. The aim of the research was to develop a new method for the surgical treatment of fractures of the proximal humerus against the background of osteoporosis and to evaluate the clinical effectiveness of the new method. A pilot study was conducted to evaluate the clinical efficacy and safety of surgical treatment of patients with a fracture of the proximal humerus. The results showed that the new "Method for the surgical treatment of patients with a fracture of the proximal humerus" is clinically effective and safe. Additional intramedullary bone stabilization of the proximal humerus with a fibular autograft allows for more rigid and stable fixation of fragments, especially in the presence of critical osteoporosis. The early restoration of passive and active movements in the shoulder joint made it possible to fully restore the function of the limb in a severe fracture of the proximal section.

Hubungan antara Nyeri Fraktur dengan Kualitas Tidur Pasien yang di Rawat Inap

This study aims to determine the relationship between fracture pain and sleep quality. This research was conducted in the Seruni room of Dr. M. Yunus Bengkulu and in the Seruni room at Bhayangkara Hospital TK III Bengkulu. The research design used was correlational using a cross sectional approach. The results of the univariate analysis showed that (73.3%) respondents had poor sleep quality and (60%) had severe fracture pain intensity. The results of bivariate analysis with correlation test obtained p-value = 0.002 (p <0.05). In conclusion, there is a relationship between fracture pain and the sleep quality of patients hospitalized at the hospital in Bengkulu Province. Keywords: Fracture Pain, Sleep Quality

Ductile Regime Scratching of a Rock Sample in a Laser Assisted Machining Technique

Rocks are playing an important role in the life of mankind since ancient times. One of the most significant characteristics of the rocks is their brittleness, which makes them exhibit a very poor machinability and usually severe fracture results during machining. In this paper, Micro-Laser Augmented Machining (μ-LAM) technique is applied on scratching a commercial rock, Gabbro-Labradorite, which is a composite of grained natural minerals such as feldspar, magnetite and mica. In the μ-LAM process, a laser is used to locally heat and thermally soften the materials below the scratching tool during the machining operation. In this paper, scratching tests have been done on the Gabbro-Labradorite minerals, with and without laser heating and results are compared and reported. Micro-laser assisted scratch tests (with an actual cutting tool) were successful in demonstrating the enhanced thermal softening of the feldspar and magnetite minerals. The effect of the laser power was studied by measuring the depths of the cuts for the scratch tests. When generating the scratches with a diamond tool, load range was increased from 50 to 500 mN. Laser powers of 10, 15, 20, and 25 Watt (W) have been utilized. All the tests were repeated two times to increase the reliability of the results. 3D profiles were generated by using a white light interferometer and microscopic images of the cuts have been reported. Results show that Ductile to Brittle Transition (DBT) depth, which is the critical depth for machining brittle materials, increased with the aid of the laser. Results are very important for the machining of the Gabbro-Labradorite to get a high material removal rate (MRR), low tool wear and better surface quality.

Limb Salvage of Ankle Fracture Dislocation With LIMA External Fixator

Open ankle fractures with dislocation are potentially limb-threatening injuries with complications ranging from infection to amputation. External fixation has been used in trauma institutions for limb salvage, particularly in the setting of extensive soft tissue compromise. The authors present a case of an elderly woman with an open ankle fracture dislocation who underwent a staged surgical approach. A LIMA external fixator was used in conjunction with antibiotic beads and subsequent definitive open reduction with internal fixation. At 5-year follow-up, the patient demonstrated pain-free range of motion with a return to activity comparable to the preinjury state. The authors highlight the benefit of procedure staging in the presence of a severe fracture dislocation of the tibiotalar joint. Levels of Evidence: Therapeutic, Level IV: Case Study