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: Assoc Prof Pham Dang Ninh, MD, PhD Prof Luong Dinh Lam Peer-review 1: Assoc Prof Nguyen Manh Khanh Peer-review 2: Prof Nguyên Vinh Thong Peer-review 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: 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 A NEW CONTRIBUTIONS OF THE THESIS Evaluate in detail clinical features, X-ray 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 self-supporting 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 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 self-created 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 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, images, 108 references including Vietnamese documents and 104 English documents Chapter 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 types, based on clinical features, X-ray features and family history 1.2 Subclinical 1.2.1 Characteristics of bone deformation on X-ray 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, X-ray images, history of fractures and family history 1.4 Treatment 1.4.1 In the world + Medical treatment: bisphosphonate Medical treatment with intravenous + 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 intramedually nail for 24 patients with 29 femur undergoing surgery, the time after the bone to heal surgery from 12-18 weeks, 10 patients have the prospect of walking, 10 patients have access to support equipment and 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 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 of the 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 years or older 2.1.3 Exclusion criteria + Do not have enough medical records and X-ray film archives + Patients 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, cross-sectional description, without control group based on a consistent research sample form from which to reach the conclusion of goal + Step 2: Select a group of patients with lower limb surgery to conduct intervention and evaluate the results of surgical treatment to address goal 2.2.2 Sample size Because this is a rare condition, in this study, we chose the convenient sampling method, including all subjects that meet the criteria for selection in the study subjects The target sample is 42 patients, the target sample is 33 patients 2.3 Research content 2.3.1 Target 2.3.1.1 Clinical research + Age, gender, family history, history of fractures, number of fractures, frequency of fractures, location of fractures, location of first fractures, previous treatment of fractures in lower limbs + Functional symptoms: aching bones, dizziness, constipation, easy bruising + Physical symptoms: Triangular face, blue eyes, strengthening imperfections, hearing or hearing loss, chest, spine, clinical bone deformities, preoperative movement: Self-sitting, crawl with your butt, stand on your own, stand with support, walk on your own, walk with support 2.3.1.2 Research on subclinical + X-ray: Skull bone: Investigate the presence of multiple skull bones Long bones: Distorted deformity, calcification of popcorn, dark veins in onions Spine bone: Scoliosis image, collapsed vertebra + Blood chemistry: The concentration of Glucose, SGOT, SGPT, Creatinine, Urea compared to normal values + Electrolyte: Blood calcium concentration: Ca ++, total calcium compared to normal values 2.3.2 Target 2.3.2.1 Internal osteosurgery uses self-made kits to treat deformities of the lower limbs in imperfect bone formation - Self-created kits for root canal drilling at cut bone section - Tools for driving through double nails - Tools for piercing heads on tibia - Homemade locking brace (point locking brace) 2.3.2.2 Result evaluation + Evaluate early results - In surgery: Surgical time, blood loss, surgical site, surgical methods, number of bone / bone section / cut, combined fracture bone tool, root canal drilling, amount of transfusion blood, accidents, dialysis accident management, reinforced with flour troughs, shaft alignment results - After surgery:  ≤ month after surgery: Evolution at the incision, combined fracture bone techniques, complications  and management measures Postoperative assessment at follow-up visits: ≥ month, ≥ months, ≥ months after surgery: Distortion of bone, movement, bone axis (straight axis: Deformation angle 200) Instrument alignment: Nails located in the canal, bent nails, broken nails, nails protruding from the shell bone or nails into the joint socket, turn on the screw Bad condition of nails on normal X-ray film Fracture fracture, callus grade + Evaluate far results Time of re-examination: ≥ 12 months, ≥ 24 months, ≥ 36 months) The evaluation criteria: deformation of bone, movement, axial axis, instrument alignment, the condition of sliding nails in case of using double nails, broken bones, fractured positions Evaluation of surgical results based on the score sheet of El Sobky M et al The index of life satisfaction after surgery is assessed on the basis of Likert scale Chapter RESEARCH RESULTS 3.1 Clinical features and X-ray image of long bones and bones skull, spine, blood biochemical tests and electrolytes in patients with Osteogenesis imperfecta 3.1.1 Age and gender Table 3.2 Age characteristics of surgical patients group (n = 33) Sex Males Criteria n Rate % Females n Rate Total Rate % % From to < 25,0 23,5 24,2 - < 10 12,5 29,4 21,2 10 - < 18 10 62,5 35,3 16 48,5 ≥ 18 0,0 11,8 6,1 Total 16 100 17 100 33 100 The group of surgical patients is mainly in the developing age, accounting for the most, from the age of 10 -