Surveying some clinical features and X-ray images of long bones, skulls, spine, blood biochemical tests and electrolytes in patients with Osteogenesis imperfecta. Evaluation of internal bone results using self-made tool to treat deformation of the lower limbs in patients with Osteogenesis imperfecta at Military Hospital 7 A.
MINISTRY OF EDUCATION MINISTRY OF DEFENSE VIETNAM MILITARY MEDICAL UNIVERSITY TRAN QUOC DOANH STUDY OF CLINICAL, SUBCLINICAL FEATURES AND CORRECTIVE SURGERY OUTCOMES OF LOWER LIMB AXIS IN PATIENTS WITH OSTEOGENESIS IMPERFECTA Specialization: Surgical Code: 9720104 SUMMARY OF PHD. THESIS IN MEDICINET HA NOI 2020 This thesis was conducted at: Vietnam Military Medical University Supervisors: 1. Assoc. Prof. Pham Dang Ninh, MD, PhD 2. Prof . Luong Dinh Lam Peerreview 1: Assoc. Prof. Nguyen Manh Khanh Peerreview 2: Prof . Nguyên Vinh Thong Peerreview 3: Assoc. Prof. Vu Nhat Dinh The thesis will be defensed at Council of Vietnam Military Medical University at …… …… …… 2020 The thesis can be found at these libraries: National library The library of Vietnam military medical academy INTRODUCTION Osteogenesis imperfecta (OI) is a congenital disorder of the bone. The cause of the disease is a mutation in the type I collagen synthesis gene that makes bones fragile and deformed In the world, there have been many researches on surgical treatments with the aim of cutting the orthostatic bone structure and fixing broken bones to improve quality of life, limiting fractures Vietnam has not had a comprehensive study of epidemiological characteristics, clinical symptoms, subclinical and results of treatment of OI. Medical treatment does not improve motor skills. Therefore, the daily life problem of the patient still depends on the family and the medical staff From the above reasons, we conduct research topic "Study of clinical, subclinical features and corrective surgery outcomes of lower limb axis in patients with Osteogenesis imperfecta" with the following two objectives: 1. Surveying some clinical features and Xray images of long bones, skulls, spine, blood biochemical tests and electrolytes in patients with Osteogenesis imperfecta 2. Evaluation of internal bone results using selfmade tool to treat deformation of the lower limbs in patients with Osteogenesis imperfecta at Military Hospital 7 A NEW CONTRIBUTIONS OF THE THESIS 1. Evaluate in detail clinical features, Xray images of long bones, flat bones, spine bones, biochemical tests of blood and electrolytes in patients suffering from Osteogenesis imperfecta 2. Research has created a selfsupporting tool to support root canal drilling after the bone is cut at the deformed position, which makes it easier to perform surgery, resulting in improved bone resection and alignment surgery time 3. The first study in Vietnam with a sufficiently large number, details of the research on treatment of lower limb deformation in patients with Osteogenesis imperfecta disease using internal selfcreated kits. This is a new feature compared to the method of Topouchian's author and this is a method of combining bone with specific characteristics of the disease to get good results. The results of the research are a valuable contribution to the development of the Orthopaedics and Trauma Surgery specialization and has a highly humanity THESIS STRUCTURE The thesis consists of 126 pages, with 4 chapters: Introduction 02 pages, Chapter 1: Litlerature review 30 pages, Chapter 2: Objectives and research methods 25 pages, Chapter 3: Results 35 pages, Chapter 4: Discussion 30 pages, Conclusions 02 pages and Recommendations 01 page. The thesis has 49 tables, 34 figures, 7 images, 108 references including 4 Vietnamese documents and 104 English documents Chapter 1. LITLERATURE REVIEW 1.1. Osteogenesis imperfecta disease 1.1.1. Clinical characteristics and classification 1.1.1.1. Clinical: Specific features are the long bones easy to fractures, blue scabs, imperfect formation of teeth, hearing loss or loss 1.1.1.2. Classification of Osteogenesis imperfecta disease Sillence (1979) is classified into 4 types, based on clinical features, Xray features and family history 1.2. Subclinical 1.2.1. Characteristics of bone deformation on Xray film 1.2.1.1 Long bones Bone deformation is a common deformation Images of cystic bone or calcified "popcorn" in onions, seen in type III Many bold images in the bones 1.2.1.2. Spine Scoliosis of the lumbar spine 1.2.1.3. The skull Skull with few bones or multiple skulls 1.2.2. Biochemical characteristics of blood and electrolytes 1.2.2.1. Blood biochemical test Complete blood count tests are within normal limits 1.2.2.2. Electrolytes Concentrations of calcium ion, total serum calcium are within normal limits 1.3. Diagnose 1.5.1. Specific Diagnose Based on clinical symptoms, Xray images, history of fractures and family history 1.4. Treatment 1.4.1. In the world + Medical treatment: Medical treatment with intravenous bisphosphonate + Surgical treatment: Topouchian V et al (2006) used a pair of cognitive equations for CXCT 1.4.2. In Viet Nam + Medical treatment: Vietnam is using Rauch's treatment regimen (2003) + Surgical treatment: Nguyen Ngoc Hung et al. (2016) reported on the results of the surgery to fix the internal bone axis in the long lower limb body in patients with OI equal to 1 intramedually nail for 24 patients with 29 femur undergoing surgery, the time after the bone to heal. surgery from 1218 weeks, 10 patients have the prospect of walking, 10 patients have access to support equipment and 4 patients still have to sit in a wheelchair, the average time of fractures, curved nails, buds sticking out of the bone 17 months after surgery Chapter 2. RESEARCH SUBJECTS AND METHODS 2.1. Object, time, place of study Including 42 patients with OI at Military Medical Hospital 7A Military Region 7, from January 2012 to December 2016 2.1.1. Inclusion criteria + Patients diagnosed with OI based on clinical diagnosis criteria of author Jin T.Y. et al (2016): Idiopathic and / or recurrent fractures Blue sclerae Dentinogenesis imperfecta Hearing loss reduced Clinical diagnosis of OI when at least 2 of the 4 criteria above + Patients and their families agree to participate in the study + Patient's medical record has all research criteria 2.1.2. Standard surgical treatment: + Patient could not walk due to limb deformation + Fractures many families require surgery + Brittle bones + Surgery age 2 years or older 2.1.3. Exclusion criteria + Do not have enough medical records and Xray film archives + Patients do not agree to participate in the study (the family requires no surgery) + Tests and clinical are not OI diseases + There are combined diseases not stable treatment + Skeletal deformation but patients can walk 2.2. Methodology 2.2.1. Study design + Step 1: Conducting research, crosssectional description, without control group based on a consistent research sample form from which to reach the conclusion of goal not able to slip according to bone growth 15 Table 3.45. Results of evaluation of postoperative mobility at the time of reexamination ≥ 12, ≥ 24, ≥ 36 months (n: Number of patients) ≥ 12 ≥ 24 ≥ 36 months months months (n=24) (n=24) (n=17) n (%) n (%) n (%) n (%) 13(39,4) 1(4,2) 0(0,0) 0(0,0) 17(51,5) 4(16,7) 3(12,5) 4(23,5) Independent stand 1(3,0) 0(0,0) 0(0.0) 0(0,0) Assisted sit 0(0,0) 4(16,7) 1(4,2) 0(0,0) Independent walk 1(3,0) 12(50,0) 12(50,00) 5(29,4) Assisted walk 1(3,0) 3(20,8) 8(33,3) 8(47,1) 33 24 24 17 Preoperative Mobilisation Independent sitting Crawling/bottom shuffling Total (n=33) Results up to the point of ≥ 12 months, the level of improvement of movement increased significantly, the amount of travel in which the travel supported 3/24 cases (20.83%). Independent travel for 12/24 cases (50%). At time of ≥ 24 months, the level of movement increased but not significantly. At time of ≥ 36 months, there was a decrease in ability of movement and going independently reduced to 5/17 cases 20 increased Thereby, we found that cases of recurrent deformation often occur in fixation bone patients equal to 1 intramedullary nail and 2 intramedullary nails but nails are not able to slip along with bone growth According to Table 3.42, it is shown that when checking the far reaches of ≥ 12 months tracking 44 locations, the cases are monitored without complications of intramedullary nail, 1 case of screw splinting in this case. Do not have surgery to remove the screw. By the time of ≥ 24 months and ≥ 36 months, there were 5 cases of nail sticking out of the bone shell: 4 cases with 1 nail and 1 bone with 2 nails but not enough to have to have the surgery again According to table 3.43. We checked that the results reached ≥ 12 months with 4/35 cases 2 nails are not able to slip according to bone growth. Reaching time ≥ 24 months, there are 4/31 cases where 2 nails are not able to slip with bone growth. Up to time ≥ 36 months with 2/13 cases 2 nails are not able to slip with bone development (2 cases 2 nails do not slip at the time of ≥ 12 and ≥ 24 months, 2 cases do not follow up). According to table 3.45. Checking the far reaches to ≥ 12 months, the level of improvement of movement increased significantly, the number of walking including 3/24 patients (20.83%). Traveling independently 12/24 patients (50%). At time of ≥ 24 months, the level of movement increased but not significantly. Up to ≥ 36 months, there was a decrease in mobility and independent walking reduced to 5/17 patients were monitored because the reason could be explained by the curved deformation of the lower limb bone that had not been operated According to table 3.46 After ≥ 6 months, achieving excellent level on the El Sobk scale, accounting for 96.4%. Good and excellent surgery results after ≥ 1 year, ≥ 2 years and ≥ years are over 90% The average result only 21 encountered cases with very severe deformation (curved deformation) in both upper limbs We achieved the above results because patients in the study mainly used the method of multiple osteotomy and alignment by 2 intramedullary nails CONCLUSION Through research and treatment of 42 patients with Osteogenesis imperfecta at Military Hospital 7A Military Region 7 from January 2012 to December 2016, we would like to draw the following conclusions: 1. Clinical features and Xray images of long bones, skulls, spine, blood biochemical tests and electrolytes in patients with Osteogenesis imperfecta * Clinical characteristics: Age of patients from 230 years, the average is 11.6 ± 6.1. The male / female ratio is: 1.33 / 1, there are 11 patients in the family suffering from OI. All patients had a history of fractures and fractures many times. The deformed deformity is mainly found in the thighs and lower legs, causing a serious impact on mobility and self activity, accounting for 61.983.3% Blue sclerae accounts for 88%. Creation of dentinogenesis imperfect teeth makes up 61.9%. Normal hearing Scoliosis accounts for 35.7% Chicken breast protruding accounts for 21.4%. Exercise: Sit still (31%) or move by crawling or puffing your butt (57.1%) * Xray features: The major deformed curvature in long bones of lower limb is 61.9% 83.3%. Calcification of popcorn only occurs in the and dense 22 metaphyseal lines is mainly found on the bones of the femur and tibia in patients treated with Bisphotphonate. Mostly, scoliosis occurs, in types of 16/42 patients (38.1%). Many images of skull bones 7/42 patients (16.67%) * Characteristics of blood biochemical and electrolyte test results: Glucose, SGOT, SGPT, Creatinine, Urea, Ca +, and total calcium are within normal limits 2. Evaluation of internal bone results using selfmade kits for deformation of the lower limb bone in patients with imperfect bone formation in Military Hospital 7 A Multiple osteotomy and fixtion bone surgery with 2 intramedullary with selfcreated kits to correct deformation of the lower limb bone and prevent recurrent fractures to help patients improve motor function and integrate into the community The results are as follows: Axial of limb: With 53 surgical bone positions, after 44 months of followup, 44 bone positions were straight After ≥ 24 months, there are 6/39 bone curvature positions, but the degree of deformation assessment is not enough to be reoperated because the patient is still able to walk. After ≥ 36 months, there were 5/20 cases of preexisting bent bones, the level did not increase much No recorded cases of bone fractures There are 2 cases of multiple osteotomy and fixtion bone that have fake joints; The remaining 51 cases were good callus formation Instrument alignment: In 53 positions that fixtion bone, after ≥ 12 months, 44 locations without complications of intramedullary nail, 1 case of enhanced screw splint. After ≥ 36 months, there are 5 23 cases of conical buds: 4 cases with 1 nail and 1 case with 2 nails (cases at ≥ 24 months) The condition of sliding 2 intramedullary: There are 43/53 positions equal to 2 intramedullary nails: 4 cases of inability to slip according to bone development Mobility: Improve the ability to exercise after surgery on the scale of El Sobk Methods of multiple osteotomy and fixtion bone to treat bone deformation are essential contributions to the deformation of the long bone body and prevent fracture. Patients and family members have high satisfaction with the surgical results LIMITATIONS OF THE TOPIC The number of patients (sample size) is small enough not to appear other clinical symptoms according to the literature to evaluate all clinical characteristics No clinical tests have been performed in diagnosing osteoporosis for patients in the study group Because there has not been a molecular biology test for patients, it has not been classified by disease type and only diagnosed according to clinical standards and Xray film and family history 24 RECOMMENDATIONS For patients under 18 years of age, fixtion bone is equal to 2 intramedullary nails and should use equal to intramedullary for cases where patients are indicated for surgery Do not use screws to fixtion bone, only use screws to strengthen unstable The method multiple osteotomy and fixtion bone to treat bone deformation is a necessary contribution in the deformation of the long bone body and prevent fractures in the lower limbs. Therefore, in the coming time, it is necessary to continue studying the complete procedure by 2 intramedullary to minimize the number of patients who need to have orthopedic surgery and reconnect bone several times due to the bone deformed back in patients alignment is equal to 1 intramedullary Continue to research and implement combined medical treatment after surgery to enhance the effectiveness of surgery and help patients integrate into the community early LIST OF PUBLICATIONS FROM THE THESIS 1. Tran Quoc Doanh., Pham Dang Ninh., Luong Dinh Lam (2018) Initial evaluate the results of osteotomy with intramedullary fixation for lower limbs in osteogenesis imperfecta patients in Military Hospital 7A Journal of Military Pharmacomedicine, 43 (9: 142147 2. Tran Quoc Doanh., Pham Dang Ninh., Luong Dinh Lam (2018) Xray image of Osteogenesis imperfecta patients treated at Military Hospital A (20122016) Journal of Vietnamese Medicine, 473 (1 & 2): 912 3. Tran Quoc Doanh., Pham Dang Ninh., Luong Dinh Lam (2019) Clinical characteristics of Osteogenesis imperfecta patients treated at Military Hospital 7 A (20122016). Journal of Vietnamese Medicine, 475 (1 & 2): 1114 ... topic "Study of clinical, subclinical features and corrective surgery outcomes of lower? ?limb? ?axis? ?in? ?patients? ?with? ?Osteogenesis? ?imperfecta" ? ?with? ?the following two objectives:... 1. Surveying some clinical? ?features? ?and? ?Xray images? ?of? ?long bones, skulls, spine, blood biochemical tests? ?and? ?electrolytes? ?in? ?patients? ?with? ? Osteogenesis? ?imperfecta 2. Evaluation? ?of? ?internal bone results using selfmade tool to treat ... 3. The first? ?study? ?in? ?Vietnam? ?with? ?a sufficiently large number, details of? ?the research on treatment? ?of? ?lower? ?limb? ?deformation? ?in? ?patients? ? with? ?Osteogenesis? ?imperfecta? ?disease using internal selfcreated kits.