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VIETNAM MILITARY MEDICAL UNIVERSITYTRAN QUOC DOANH STUDY OF CLINICAL, SUBCLINICAL FEATURES AND CORRECTIVE SURGERY OUTCOMES OF LOWER LIMB AXIS IN PATIENTS WITH OSTEOGENESIS IMPERFECTA Spe

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

Supervisors:

1 Assoc Prof Pham Dang Ninh, MD, PhD

2 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

Osteogenesis imperfecta (OI) is a congenital disorder of the bone.The cause of the disease is a mutation in the type I collagen synthesisgene that makes bones fragile and deformed

In the world, there have been many researches on surgical treatmentswith the aim of cutting the orthostatic bone structure and fixingbroken bones to improve quality of life, limiting fractures

Vietnam has not had a comprehensive study of epidemiologicalcharacteristics, clinical symptoms, subclinical and results oftreatment of OI Medical treatment does not improve motor skills.Therefore, the daily life problem of the patient still depends on thefamily 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 X-ray images of long bones,skulls, spine, blood biochemical tests and electrolytes in patients withOsteogenesis imperfecta

2 Evaluation of internal bone results using self-made tool to treatdeformation of the lower limbs in patients with Osteogenesisimperfecta at Military Hospital 7 A

NEW CONTRIBUTIONS OF THE THESIS

1 Evaluate in detail clinical features, X-ray images of long bones,flat bones, spine bones, biochemical tests of blood and electrolytes inpatients suffering from Osteogenesis imperfecta

2 Research has created a self-supporting tool to support root canaldrilling after the bone is cut at the deformed position, which makes iteasier to perform surgery, resulting in improved bone resection andalignment surgery time.

3 The first study in Vietnam with a sufficiently large number, details

of the research on treatment of lower limb deformation in patientswith Osteogenesis imperfecta disease using internal self-created kits.This is a new feature compared to the method of Topouchian's authorand this is a method of combining bone with specific characteristics

of the disease to get good results The results of the research are avaluable contribution to the development of the Orthopaedics andTrauma Surgery specialization and has a highly humanity

THESIS STRUCTUREThe thesis consists of 126 pages, with 4 chapters: Introduction - 02pages, Chapter 1: Litlerature review 30 pages, Chapter 2: Objectivesand research methods - 25 pages, Chapter 3: Results - 35 pages,Chapter 4: Discussion - 30 pages, Conclusions - 02 pages andRecommendations 01 page The thesis has 49 tables, 34 figures, 7images, 108 references including 4 Vietnamese documents and 104English documents

Chapter 1 LITLERATURE REVIEW

1.1 Osteogenesis imperfecta disease

1.1.1 Clinical characteristics and classification

Sillence (1979) is classified into 4 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

- 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

+ Surgical treatment: Topouchian V et al (2006) used a pair ofcognitive equations for CXCT.

24 patients with 29 femur undergoing surgery, the time after the bone

to heal surgery from 12-18 weeks, 10 patients have the prospect ofwalking, 10 patients have access to support equipment and 4 patientsstill have to sit in a wheelchair, the average time of fractures, curvednails, 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

- 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

+ 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, withoutcontrol group based on a consistent research sample form from which

to reach the conclusion of goal 1

+ Step 2: Select a group of patients with lower limb surgery toconduct intervention and evaluate the results of surgical treatment toaddress goal 2

2.2.2 Sample size

Because this is a rare condition, in this study, we chose theconvenient sampling method, including all subjects that meet thecriteria for selection in the study subjects

The target sample 1 is 42 patients, the target sample 2 is 33 patients

2.3 Research content

2.3.1 Target 1

2.3.1.1 Clinical research

+ Age, gender, family history, history of fractures, number offractures, frequency of fractures, location of fractures, location offirst fractures, previous treatment of fractures in lower limbs.

+ Functional symptoms: aching bones, dizziness, constipation, easybruising

+ Physical symptoms: Triangular face, blue eyes, strengtheningimperfections, hearing or hearing loss, chest, spine, clinical bonedeformities, preoperative movement: Self-sitting, crawl with yourbutt, stand on your own, stand with support, walk on your own, walkwith 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 inonions

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 calciumcompared to normal values

2.3.2 Target 2

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, surgicalmethods, number of bone / bone section / cut, combined fracturebone tool, root canal drilling, amount of transfusion blood, accidents,dialysis accident management, reinforced with flour troughs, shaftalignment results

- After surgery:

 ≤ 1 month after surgery: Evolution at the incision,combined fracture bone techniques, complicationsand management measures

 Postoperative assessment at follow-up visits: ≥ 1month, ≥ 3

months, ≥ 6 months after surgery: Distortion of bone, movement,bone axis (straight axis: Deformation angle <100, non-straight axis:Deformation angle> 200) Instrument alignment: Nails located in thecanal, bent nails, broken nails, nails protruding from the shell bone ornails into the joint socket, turn on the screw Bad condition of 2 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 2 nails in case of usingdouble nails, broken bones, fractured positions Evaluation ofsurgical results based on the score sheet of El Sobky M et al Theindex of life satisfaction after surgery is assessed on the basis ofLikert scale

Chapter 3 RESEARCH RESULTS

3.1 Clinical features and X-ray image of long bones and bones skull,spine, blood biochemical tests and electrolytes in patients withOsteogenesis imperfecta

3.1.1 Age and gender

Table 3.2 Age characteristics of surgical patients group (n

Table 3.35 X-ray test results (n = 53, n: Number of

bones)

X-rays results

≥ 1

month (n = 49)

Rate

%

≥ 3

months (n = 47)

Rate

%

≥ 6

months (n=45)

After ≥ 1 month, 49 bone positions were operated on straight axes.After ≥ 3 months, there are 47 bones and after ≥ 6 months, there are

45 surgery bones, the cases are straight axis

Table 3.37 Result of bone combination means and bone combination

method (n = 53, n: Number of bones)

X-ray Results Metho

d

Location

≥ 1 mont h

≥ 3 month s

≥ 6 month s

≥ 1 month s

≥ 3 month s

≥ 6 month s

6 months of 45 bone fixed locations, there are no cases where bonefixed tool bends, nails protrude from the bone shell and screw splint.Table 3.38 Result of 2 nails sliding according to the development (n

= 43, n: Number of bones using 2 intramedullary nails)

X-ray ResultsMethod

Location

≥ 1month

≥ 3months

≥ 6months

≥ 1months

≥ 3months

≥ 6months

Table 3.39 Results of evaluating motor postoperative (n: Number of patients)

Motion

Before Surgery (n=33)

≥ 1 month (n=29)

≥ 3 months (n=28)

≥ 6 months (n=28)

n (%) n (%) n (%) n (%)

Independent sitting 13(39,4) 22(75,9) 5(17,9) 1(3,6)Crawling/bottom

Independent stand 1(3,0) 0(0,0) 1(3,6) 0(0,0)

Independent walk 1(3,0) 0(0,0) 0(0,0) 9(32,1)Assisted walk 1(3,0) 0(0,0) 9(32,1) 8(25,6)

There is a significant improvement in motor skills in patients aftersurgery ≥ 3 - ≥ 6 months compared to before surgery The increase isstatistically significant

3.2.2 Evaluating distal results after orthopedic surgery (after ≥ 12 months)

Table 3.40 Classification by time of inspection

Avarage time of follow-up 32,5 (months)

Patients with the shortest follow-up time for ≥ 24 months (24patients) accounted for 72.7%, the longest follow-up time was ≥ 36months (17 patients) accounted for 51.5% The results showed thatthe average follow-up time in the study reached 32.5 months

Table 3.41 Results of bone instrument alignment and bone fixation

method (n = 53, n: Number of bones)

X-ray Results Method

Location

≥ 12months

≥ 24months

≥ 36months

≥ 12months

≥ 24months

≥ 36months

Results to reach ≥ 12 months of follow-up with 44 bone positions, the

cases are monitored straight axis At the time of ≥ 24 months, therewere 6/39 cases with bone curvature but the level of deformationassessment was not enough to be re-operated Reaching the time of ≥

36 months of monitoring 20 bone positions, there were up to 5 cases

of axial curvature which were detected before but the level did notincrease much

Table 3.42 Result of bone instrument alignment and bone fixation

method (n = 53, n: Number of bones)

X-ray Results Metho

d

Location

≥ 12 months

≥ 24 months

≥ 36 months

≥ 12 months

≥ 24 month s

≥ 36 months

Results to reach ≥ 12 months tracking 44 locations that have

instrument alignment, the cases were followup without complications

of intramedullary nail, 1 case of screw splint Reaching time ≥ 24 and

≥ 36 months, there are 5 cases where the nail shoots to the bone shell,not enough to be re-operated

Table 3.43 Result of 2 nails sliding according to bone growth (n =

43, n: Number of bones using 2 intramedullary nails)

X-ray Result

Bone fixatio n method

Location

≥ 12 month

≥ 24 month s

≥ 36 month s

≥ 12 month s

≥ 24 month s

≥ 36 months

Table 3.45 Results of evaluation of postoperative mobility at the time of re-examination ≥ 12, ≥ 24, ≥ 36 months (n: Number of patients)

Mobilisation

Preoperative (n=33)

≥ 12 months (n=24)

≥ 24 months (n=24)

≥ 36 months (n=17)

n (%) n (%) n (%) n (%)

Independent sitting 13(39,4) 1(4,2) 0(0,0) 0(0,0)Crawling/bottom

Independent stand 1(3,0) 0(0,0) 0(0.0) 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)

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

3.2.3 Surgical results according to the El Sobk scoring system

Table 3.46 Evaluate surgical results according to El Sobk's scoring system at the time of follow-up examination ≥ 6, ≥ 24, ≥ 36 months (n: Number of patients)

Level

≥ 6 months (n=28)

≥ 12 months (n=24)

≥ 24 months (n=24)

≥ 36 months (n=17)

Patients

Rat

e %

Patients

Rat

e %

Patients

Rat

e %

Patients

After ≥ 6 months, excellent 96.4% Good and excellent after

≥ 1 year, ≥ 2 years and ≥ 3 years are all over 90% Average of 2 cases

Table 3.47 Assessment of patient satisfaction on criteria of travel, self-care, living, pain / discomfort, anxiety over time of follow up

≥ 12 months (3)

≥ 24 months

Self care 1,6±0,2 2,6±0,2 2,4±0,2 3,7±0,2

p(1,2) = 0,000p(1,3) = 0,001p(1,4) = 0,00

Living 1,6±0,2 2,1±0,3 2,9±0,3 3,3±0,1

p(1,2) = 0,014p(1,3) = 0,00p(1,4) = 0,00Pain /

Discomf

ort

2,6±0,1 3,6±0,1 5,0±0,0 5,0±0,0

p(1,2) = 0,00p(1,3) = 0,00p(1,4) = 0,00

Worry 1,8±0,2 3,6±0,1 5,0±0,0 5,0±0,0

p(1,2) = 0,000p(1,3) = 0,00p(1,4) = 0,00All indicators to assess the level of patient satisfaction including: Walking, self-care, living, pain / discomfort, anxiety increased, statistically significant

Chapter 4 DISCUSSION

4.1 Clinical features and X-ray images of long bones, skull, spine,blood biochemical tests and electrolytes in patients with Osteogenesisimperfecta

4.1.1 Age and gender characteristics

According to table 3.2 The age group of surgery is mainly inthe developing age group, accounting for the most, from the age of

10 - <18, the male / female ratio: 0.9 / 1 In our study, there was 1patient of 2 years old, we chose the patient of 2 years of age or olderbecause this age children often suffer many fractures due to childrenbeing more active at 2 years of age and older patients ≥ At the age of

18 years (1 patient 19 years and 1 patient 23 years), we still use themethod of closing 2 intramedullary nails against the goal to stabilizethe plan

4.2 Evaluate the results of internal bone using self-made kits to treatdeformation of lower limb bone in patients with imperfect boneformation

4.2.1 Evaluate the results near

+ Evaluation of postoperative results Evaluation after surgery

at the time of re-examination: ≥ 1 month, ≥ 3 months, ≥ 6 monthsafter surgery According to Table 3.35, after 1 month there were47/49 cases of level 1 osteosarcoma (95.9%), there were 2/49 cases

of no fracture accounted for 4.08% According to Table 3.36 andTable 3.37, we found that, after 1 month of surgery, most axes werestraight axes with 49/49 bone positions After 3 months ofmonitoring 47 bone positions and after 6 months of 45 bone