1.Comparison of decompression effects between spine endoscopy hybrid technique and uniportal endoscopic surgery in treatment of lumbar spinal stenosis with bilateral symptom
Song GUO ; Xinhua LI ; Meijun YAN ; Yanbin LIU ; Zhong LIU ; Kewei LI ; Pengcheng LIU ; Beiting ZHANG ; Qiang FU
Chinese Journal of Tissue Engineering Research 2025;29(3):517-523
BACKGROUND:Spinal canal decompression using uniportal endoscopic surgery is a new minimally invasive surgery in the treatment of lumbar spinal stenosis.However,this technique needs a steep learning curve and high requirements for surgical equipment and instruments,which limits its clinical application.We previously use the spinal endoscopy as a monitoring endoscopy and combined with unilateral biportal endoscopy to propose a hybrid technique of spinal endoscopy to achieve coaxial endoscopic operation and hands-separate operation. OBJECTIVE:To compare the clinical outcome of hybrid technique and uniportal endoscopic surgery in treatment of lumbar spinal stenosis with bilateral lower limb pain symptoms. METHODS:Ninety patients diagnosed of lumbar spinal stenosis with bilateral symptoms were included and retrospectively analyzed at First People's Hospital,Shanghai Jiao Tong University from August 2020 to August 2022.44 cases were included in group A(hybrid technique group),while 46 cases were included in group B(uniportal endoscopic surgery).The nerve decompression was observed during the surgery.Operation time,hospital stay time,and expenses were recorded in both groups.The visual analog scale scores of lower back pain and both lower extremities pain,Oswestry disability index scores of quality of life and excellent and good rate of modified Macnab criteria were recorded and compared at preoperative,postoperative 3 days,and postoperative 3 and 6 months. RESULTS AND CONCLUSION:(1)The operation time of group A was significantly shorter than that of group B(P<0.05).(2)The lower back pain and lower extremity pain of the severe side at postoperative 3 days,and 3 and 6 months were significantly relieved in both groups(P<0.05).The visual analog scale score of lower extremity pain on the mild side was significantly decreased at postoperative 3 days,3 and 6 months than preoperative score in the group A(P<0.05).The visual analog scale score of lower extremity pain on the mild side was significantly decreased at postoperative 3 days than preoperative score in the group B(P<0.05).The visual analog scale scores of lower extremity pain on the mild side at postoperative 3 and 6 months did not show significant difference than preoperative score in the group B.The comparison between the two groups showed that there was no significant difference in the visual analog scale scores of postoperative lower back pain and lower extremity pain of the severe side(P>0.05).The visual analog scale scores of lower extremity pain on the mild side in the group A were significantly lower than those of group B at postoperative 3 and 6 months(P<0.05).(3)The Oswestry disability index scores of both groups at postoperative 3 day were significantly lower than preoperative score(P<0.05),and there was no significant difference between the two groups 3 days after operation.Oswestry disability index scores of group A at postoperative 3 and 6 months were significantly decreased than preoperative score(P<0.05).The Oswestry disability index scores of group B at postoperative 3 and 6 months did not show significant differences than preoperative score(P>0.05).The comparison between the two groups showed the Oswestry disability index scores of group A were significantly lower than group B at postoperative 3 and 6 months(P<0.05).(4)The results of modified Macnab showed that the excellent and good rate of group A was significantly higher than that of group B(95%,78%,P<0.05).(5)It is indicated that the hybrid technique is a new spinal endoscopy technique,which has the advantages of less trauma and faster recovery as a minimally invasive surgery.The clinical outcome of hybrid technique is superior to that of uniportal endoscopic surgery in the treatment of lumbar spinal stenosis with bilateral symptoms.Additionally,it also has the advantages of good operational flexibility and high decompression efficiency as an open surgery.
2.Data analysis of HBV DNA detection proficiency testing in blood station laboratories
Yanbin WANG ; Lianjun HAO ; Huixian ZHANG ; Ye SUN ; Congya LI ; Kun TANG ; Xi TANG
Chinese Journal of Blood Transfusion 2025;38(8):1089-1093
Objective: To design HBV DNA proficiency testing and system comparison samples with different concentration gradients, analyze their detection results in PCR detection systems, evaluate the nucleic acid detection capabilities of laboratories and differences between detection systems, and put forward suggestions for continuous quality improvement to participating laboratories. Methods: Three groups of randomly numbered proficiency testing samples (with HBV DNA reference concentrations of <2, 7.5, and 30 IU/mL respectively) were taken as the detection objects. Using nucleic acid test data from 11 provincial blood station laboratories as the source, the samples were grouped by detection system and laboratory successively, and statistical analysis was conducted. Results: Statistical analysis of the detection data of the three groups of samples based on detection systems and laboratories showed that from low to high concentration, the coincidence rate between the detection results of different detection systems and laboratories and the expected results showed an increasing trend: 38.89%, 85.90%, and 100.00%; the same system exhibited certain differences in performance among different laboratories. Conclusion: Through this proficiency testing and system comparison, it is found that there are certain differences in the detection capabilities of different laboratories and different nucleic acid test systems. Blood station laboratories should standardize processes, strengthen quality management and data analysis on the basis of being familiar with the detection performance of their detection systems, and at the same time strengthen the control of laboratory interference factors to continuously improve the nucleic acid detection capabilities of blood station laboratories.
3.Measurement and Analysis of Kinetic Parameters in Lin's Squeezing-Pressing Adjustment Manipulation and Its Clinical Significance
Wenzhong CUI ; Yuanming LI ; Yanrong HE ; Yanbin HUANG ; Shan WU ; Zhiyong FAN ; Bingcheng PAN
Journal of Guangzhou University of Traditional Chinese Medicine 2025;42(7):1680-1686
Objective The kinetic parameters of Lin's squeezing-pressing adjustment manipulation were collected for the analysis of its mechanical characteristics,thus to establish a standardized operating procedure to guide clinical teaching of this technique.Methods Ten healthy male trainees(aged 20-30 years)from the Tuina Department of Guangdong Provincial of Chinese Medicine were selected as the subjects.A multi-point thin-film pressure testing system was used to collect mechanical parameters during the operation of Lin's squeezing-pressing adjustment manipulation.The mechanical characteristics were analyzed,and then a mathematical model of time-mechanics curve was constructed.Results(1)The kinetic parameters of Lin's squeezing-pressing adjustment manipulation were as follows:preload force averaged(279.45±19.36)N with a duration of(0.98±0.03)s,the valley value of preload force averaged(137.45±3.59)N,the maximum impact force was(495.56±7.33)N,the impact duration averaged(0.15±0.01)s,the impact velocity averaged(3 183.96±94.76)N/s,and the impulse was(57.16±1.82)N/s.(2)The fitting function of impact force showed large absolute values for both ascending and descending slopes,and the ascending slope was significantly greater than the descending slope,indicating that the Lin's manipulation stressed on rapid outburst of the strength and withdrawal of the strength.(3)One-way ANOVA revealed no statistically significant differences in the preload force and its duration and valley value,the maximum impact force,and impact time among different operators(P>0.05).Conclusion The analysis of kinetic parameters demonstrates that skilled operators maintain relatively stable mechanical parameters when performing Lin's squeezing-pressing adjustment manipulation.This study provides a preliminary digital analysis of the mechanical characteristics of Lin's bone-setting manipulation in addressing"bone misalignment and tendon displacement",which supplies objective evaluation criteria for the technique.
4.An association study between ALOX15 gene polymorphisms and non-cardia gastric carcinogenesis
Ning Chu ; Wenjie Dong ; Fang Gao ; Yingze Li ; Yaru Chen ; Bin Zhang ; Yanbin Jia
Acta Universitatis Medicinalis Anhui 2025;60(10):1865-1873
Objective:
To explore the association between single nucleotide polymorphism(SNP) in the arachidonate 15-lipoxygenase(ALOX15) gene and Helicobacter pylori(H. pylori) infection as well as the risk of non-cardia gastric cancer in Baotou Han population, and to provide experimental evidence and data support for the screening of susceptible population for non-cardia gastric cancer.
Methods:
A total of 458 cases with non-cardia gastric cancer and 460 healthy examination people were collected. The 14C urea breath test(UBT) and enzyme-linked immunosorbent assay(ELISA) were used to detect H. pylori infection in the 460 healthy individuals. The genotypes of ALOX15 rs2619112, rs2619118, rs2664593, rs7220870 were detected by polymerase chain reaction-restriction fragment length polymorphism, and the association of SNP with H. pylori infection as well as the risk of non-cardia gastric cancer was statistically analyzed.
Results:
The positive rate of H. pylori infection was 42.4%. ALOX15 rs2619112, rs2619118, rs2664593, and rs7220870 had no association with H. pylori infection. ALOX15 rs2619112, rs2664593, and rs7220870 were not associated with the risk of non-cardia gastric cancer. Compared with the carriers of(CC + CT) genotype, the carriers of rs2619118 TT genotype had an increased onset risk of non-cardia gastric cancer [OR(95%CI)=1.512(1.110-2.060)]. The haplotype ACCC constructed by ALOX15 rs2619112, rs2619118, rs2664593, and rs7220870 could reduce the onset risk of non-cardia gastric cancer. The second-order interaction of ALOX15 rs2619112 and rs2619118 was associated with the risk of non-cardia gastric cancer ( P < 0. 05 ) .
Conclusion
ALOX15 rs2619112 , rs2619118 , rs2664593 , rs7220870 may not play a major role in H. pylori infection. ALOX15 rs2619118 TT genotype is a risk factor for the development of non⁃cardia gastric cancer. The haplotype ACCC constructed by ALOX15 rs2619112 , rs2619118 , rs2664593 , and rs7220870 reduces the onset risk of non⁃cardia gastric cancer. The interaction of ALOX15 rs2619112 and rs2619118 has a synergistic effect in the development of non⁃cardia gastric cancer.
5.Analyses of DXA in diagnosing osteoporosis of postmenopausal rheumatoid arthritis patients in Qinghai region and the risk factors of them
Jing FANG ; Youyun LIU ; Shengping QI ; Zuorei LI ; Fuyan YANG ; Yanbin WANG ; Xudong CHANG ; Qiong HAN ; Jianhui WANG
China Medical Equipment 2024;21(2):23-27
Objective:To investigate the diagnosis of dual-energy X-ray absorptiometry(DXA)for osteoporosis(OP)of postmenopausal patients with rheumatoid arthritis(RA)in Qinghai region and the risk factors of them.Methods:A total of 200 postmenopausal female RA patients who admitted to Qinghai Hospital of Traditional Chinese Medicine from May 2022 to April 2023 were selected.All patients were tested for bone mineral density(BMD)after admission,and lumbar spines L1-L4,whole lumbar,large trochanter,Ward's triangle area,whole body and whole forearm were measured by DXA.According to the results of BMD test,patients whose BMD T values of all body parts-2.5 SD were less or equal to-2.5 were included in the OP group(121 cases),and patients whose BMD T value of all body parts were larger than-2.5 SD were included in the non-OP group(79 cases).The BMD T value of different body parts between two groups of RA patients were compared and analyzed.The area under curve(AUC)of receiver operating characteristic(ROC)curve was used to analyze the diagnostic efficiency of BMD T value for OP.The logistic regression method was adopted to analyze the risk factors that postmenopausal RA patients of Qinghai region occurred OP.Results:The BMD T values of L1,L2,L3,L4,whole lumbar,large trochanter,Ward's triangular area,whole body and whole forearm of OP group were obviously lower than those of the non-OP group.In analysis of ROC curve,the sensitivities of BMD T values of L1,L2,L3,L4,whole lumbar,large trochanter,Ward's triangle area,whole body and forearm were respectively 96.20%,95.22%,90.16%,96.03%,92.01%,89.36%,99.26%,90.02% and 96.03% in diagnosing OP,and the specificities of them were respectively 81.00%,82.19%,85.22%,83.06%,83.06%,90.22%,80.06%,86.23%,83.09%,and the AUC values of them were respectively 0.908,0.905,0.896,0.906,0.903,0.879,0.918,0.901 and 0.906.The results of the logistic-regression analysis showed that advanced age,long disease course,rheumatic activity scores of 28 joints,erythrocyte sedimentation rate and Calcium supplementation were the risk factors of occurring OP in postmenopausal RA patients in Qinghai region.Conclusion:The DXA method that detects BMD of RA patients who occur OP can be used as gold standard to assess OP,and there are many risk factors that affect the occurrence of OP in postmenopausal RA patients of Qinghai region.The clinical work should combine with relative factors to formulate reasonable measure so as to reduce the incidence of OP.
6.Distal dynamic locking and distal static locking of proximal femoral bionic intramedullary nails: a biomechanical finite element analysis
Yuchuan WANG ; Xiaodong CHENG ; Yanbin ZHU ; Yonglong LI ; Zhongzheng WANG ; Yanjiang YANG ; Wei CHEN ; Yingze ZHANG
Chinese Journal of Orthopaedic Trauma 2024;26(2):138-142
Objective:To characterize the biomechanics of distal dynamic locking and distal static locking of proximal femur bionic nails (PFBN) in fixation of intertrochanteric fractures by a finite element analysis.Methods:The CT image data from the hip to the upper tibia from an adult male volunteer were used to establish a three-dimensional model of the femur by Mimics 20.0 and Geomagic 2013 which was processed further into a model of Evans type I intertrochanteric fracture by software NX 12.0. With reference to the internal fixation parameters commonly used, 4 models of PFBN fixation were established: distal single transverse nail dynamic locking (model A), single oblique nail dynamic locking (model B), single nail static locking (model C) and double nail dynamic locking (model D). Abaqus 6.14 software was used to load and analyze the internal fixation stresses and displacements of fracture ends.Results:Under a 2100N loading, the peak stress was located upon the main nail in the 4 models. The smallest peak stress upon the main nail was in Model D (161.9 MPa), decreased by 15.9% compared with model A (192.5 MPa), by 15.6% compared with model B (191.9 MPa), and by 0.9% compared with model C (163.3 MPa). The peak stress upon the fixation screw was the largest in model A (95.3 MPa), the smallest in model B (91.5 MPa), and 91.5 MPa and 92.2 MPa in models C and D, respectively. The overall displacements of the implants, in a descending order, were 10.14 mm in model A, 10.10 mm in model B, 10.09 mm in model C, and 10.05 mm in model D. Similarly, the displacements of fracture ends were 0.125 mm in model A, 0.121 mm in model B, 0.110 mm in model C, and 0.098 mm in model D.Conclusion:Compared with dynamic locking, distal static locking of PFBN provides a better mechanical stability and reduces stress concentration upon internal fixation.
7.Protective effect and mechanism of Longshengzhi capsules on cerebral ischemia-reperfusion injury in rats
Huanle FANG ; Xiaoming LI ; Yaming ZHOU ; Xin ZHANG ; Xiaoxi LIU ; Yanbin CHEN
China Pharmacy 2024;35(7):813-818
OBJECTIVE To explore the protective effect and mechanism of Longshengzhi capsules on cerebral ischemia- reperfusion injury in rats. METHODS The model of middle cerebral artery occlusion (MCAO) was established by using the improved thread occlusion method. The experiment was divided into six groups: sham surgery group (only separating blood vessels without inserting thread plugs, given the same volume of normal saline), model group (modeling, given the same volume of normal saline), nimodipine group (positive control, modeling, dose of 20 mg/kg), and low-dose, medium-dose, and high-dose groups of Longshengzhi capsules (modeling, doses of 0.72, 1.44 and 2.88 g/kg, respectively), with 10 mice in each group. Each group was given corresponding medication solution/normal saline by gavage, once a day, for 7 consecutive days. One hour after the last administration, the Zea Longa scoring method was used to score the neurological deficits in each group of rats, and the ABC enzyme-linked immunosorbent assay was used to detect the serum levels of tumor necrosis factor-α (TNF-α) and interleukin-6 (IL-6) in rats; TTC staining was used to observe the volume of cerebral infarction in rats and calculate the cerebral infarction volume ratio. Hematoxylin eosin staining was used to observe the pathological changes in the brain tissue of rats. Immunohistochemical staining was used to detect the positive expression of NLRP3 protein in the brain tissue of rats. Real-time fluorescence quantitative PCR was used to detect mRNA relative expressions of Toll-like receptor 4 (TLR4) and nuclear factor-κB (NF-κB) in the brain tissue of rats. Western blot assay was adopted to detect the relative expressions of TLR4, NLRP3 and phosphorylated NF-κB (p-NF-κB) protein in the brain tissue of rats and its intracellular NF-κB protein. RESULTS Compared with the sham surgery group, the neural dysfunction score, serum levels of TNF-α and IL-6, cerebral infarction volume ratio, relative expression levels of NF-κB and TLR4 mRNA, as well as protein relative expressions of TLR4, NLRP3 and p-NF-κB in the brain tissue, and relative protein expression of intracellular NF-κB were increased significantly in the model group (P<0.01); the enlarged gap and significant edema were observed in cortical nerve cells of brain tissue in rats, with a large amount of inflammatory cell infiltration; the positive expression of NLRP3 protein in brain tissue of rats obviously increased. Compared with the model group, the levels of the above indicators in the medium-dose and high-dose groups of Longshengzhi capsules, as well as the Nimodipine group, were reversed to varying degrees, and most differences were statistically significant (P<0.05 or P<0.01); the pathological morphology observation showed a significant improvement, and the positive expression of NLRP3 protein in the brain tissue of rats was obviously reduced. CONCLUSIONS Longshengzhi capsules may inhibit TLR4/NF-κB/NLRP3 signaling pathway and neuroinflammatory response, thereby achieving a protective effect against cerebral ischemia-reperfusion injury in rats.
8.Robot-assisted screw fixation for unstable pelvic ring fractures
Zhen ZHANG ; Xueguang WANG ; Shengjun DUAN ; Yanbin SUN ; Bo TANG ; Daofu JIA ; Chang LI ; Houling ZHAO ; Shang LI ; Hongfei LI ; Huashui LIU
Chinese Journal of Orthopaedics 2024;44(7):470-476
Objective:To investigate the clinical efficacy of robot-assisted screw fixation for unstable pelvic ring multifocal fractures.Methods:A retrospective analysis was performed on 76 patients with unstable pelvic fractures treated with orthopaedic robot-assisted screw fixation in the Trauma Center of the Affiliated Central Hospital of Shandong First Medical University from January 2015 to June 2022, including 43 males and 33 females, aged 52.53±13.68 years (range, 16-87 years). There were 43 cases of falling injuries from high places, 22 cases of traffic accidents, 11 cases of crushing injuries and heavy objects. Fifty-five patients were employed before the injury, while 21 were not. Fractures were classified according to the Tile classification, with 72 cases classified as type B and 4 cases as type C. Robot-assisted fixation techniques included internal fixator (INFIX), anterior ring screws, sacroiliac screws, and LC-II screws. Intraoperative blood loss, fluoroscopy frequency, surgical time, and the success rate of initial guidewire placement were recorded. Fracture reduction quality was evaluated using the Matta criteria, and postoperative pelvic function recovery was assessed using the Majeed criteria.Results:A total of 150 surgical procedures were performed on 76 patients, including 34 cases of INFIX fixation, 48 cases of anterior ring screws, 61 cases of sacroiliac joint screws, and 7 cases of LC-II screws. The mean intraoperative fluoroscopy frequency was 46.63±17.50 times (range, 15-93 times). Intraoperative fluoroscopy frequency varied among different fixation techniques, with INFIX group at 16.44±4.32 times, LC-II group at 21.59±5.80 times, anterior ring screws group at 29.44±11.65 times, and sacroiliac screws group at 23.10±11.87 times. The intraoperative blood loss was 20 (10, 47.5) ml (range, 5-300 ml), and the surgical time was 105 (86, 150) min (range, 30-290 min). The mean surgical time varied among different fixation techniques. All patients were followed up for an average of 6.46±2.26 months (range, 3-16 months). Clinical healing was achieved in all patients within 6 months, with an average time of 3.14±0.50 months. At the last follow-up, fracture reduction quality assessed by the Matta score was excellent in 21 cases and good in 43 cases, with an excellent/good rate of 84% (64/76). The Majeed score was 81.82±9.14 points (range, 50-92 points). For patients who were employed before the injury, the Majeed score was 86.55±4.85 points (range, 60-92 points), with 49 cases rated as excellent, 5 cases as good, and 1 case as fair. For patients who were not employed before the injury, the Majeed score was 69.43±5.34 points (range, 50-73 points), with 18 cases rated as excellent, 2 cases as good, and 1 case as fair. The overall excellent and good rate was 97% (74/76). Among patients who underwent INFIX internal fixation, 8 cases experienced lateral femoral cutaneous nerve injury postoperatively, all of which recovered sensation after 3 months; 1 case using LC-II screws experienced screw loosening postoperatively and was advised to reduce activity, then the screw was removed after fracture healing at 6 months postoperatively; 1 case using anterior ring channel screws experienced surgical site infection postoperatively, which was controlled after debridement.Conclusion:In the treatment of unstable pelvic ring multiple fractures, robot-assisted screw fixation has less blood loss, less fluoroscopy times, high success rate of planning guide needle, satisfactory reduction quality and postoperative function.
9.Autosomal recessive axonal neuropathy with neuromyotonia in a Tibetan family caused by HINT1 gene variation and literature review
Xifang RU ; Rong ZHAO ; Yanbin FAN ; Shuang WANG ; Yilin YE ; Beiyu XU ; Chunde LI ; Zhen HUANG ; Hui XIONG
Chinese Journal of Applied Clinical Pediatrics 2024;39(2):128-133
Objective:To summarize the characteristics of autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) caused by HINT1 gene mutation. Methods:Retrospective case summary.Clinical data of 2 Tibetan siblings diagnosed with ARAN-NM in the Department of Pediatrics of Peking University First Hospital in August 2023 were retrospectively analyzed.A review of literature reporting relevant Chinese patients was conducted.Results:The proband and her elder brother were aged 13 and 19, respectively.Both developed abnormal gait at the age of 11, followed by varus, claudication, and weak thumb strength.The proband also had neuromyotonia.Physical examinations showed that the proband and her elder brother had decreased muscle strength of the extremities, mainly in the thumbs and distal ends of lower limbs.The distal muscles of the proband′s lower extremities and the muscles of both hands of the proband′s elder brother were atrophied.Both feet showed talipes equinovarus in the proband and her elder brother.The proband′s electromyography (EMG) showed peripheral nerve injuries (motor and sensory axonal involvement, especially in distal ends) and myotonic potentials.The trio-whole exon sequencing detected homozygous pathogenic variation in HINT1 gene in both the proband and her elder brother, who were diagnosed as ARAN-NM based on c. 169A>G (p.K57E). After the Carbamazepine treatment, the proband′s neuromyotonia, numbness and weakness were relieved.Both the proband and her elder brother underwent orthopaedic surgery and rehabilitation.Their foot deformities and gait were significantly improved.Two Chinese literatures (2 patients) and four English literatures (8 patients) were retrieved.Including the proband and her elder brother in this study, there were 12 ARAN-NM patients, 10 of whom had clinical data.The ages of onset and diagnosis were 2-16 (1 case unknown) and 13-33 years old, respectively.Myasthenia was present in 9 patients, especially in distal ends.Eight patients were complicated with neuromyotonia, nine patients with muscle atrophy, seven patients with foot deformity, and two patients with sensory disturbance.Creatine kinase(CK) was elevated in all 9 patients tested or CK.EMG showed neurogenic injuries in all patients and neuromyotonia discharge in six patients.Three patients were treated with Carbamazepine, and some symptoms were relieved.Missense/nonsense mutations were found in the 12 patients, and the high-frequency variation was c. 112T>C (p.C38R). Conclusions:ARAN-NM is a rare autosomal recessive neuromuscular disease caused by HINT1 gene mutation.There is no ethnic difference in clinical manifestations, mainly distal limb weakness with neuromyotonia.Carbamazepine can alleviate some symptoms, and orthopaedic surgery can improve foot deformity and gait.
10.Type V osteogenesis imperfecta: a report of three cases in a triplets
Yanbin LI ; Ling WANG ; Xiaowen CHEN ; Heng SU ; Ping WANG ; Mou WEI
Chinese Journal of Perinatal Medicine 2024;27(9):777-779
This article reported a set of triplets with type V osteogenesis imperfecta (OI) caused by heterozygous variation in the interferon-induced transmembrane protein 5 ( IFITM5) gene. The triplets developed shortness of breath and multiple fractures at 21, 16, and 17 d after birth, respectively. On theadmission, scattered speckled patterns and hard swelling were observed in all three triplets during physical examination; several blisters were found on the right wrist of the second triplet; the smallest triplet had scattered blisters and ulcers in the mouth, complicated by neonatal sepsis, shock, respiratory failure, necrotizing enterocolitis, and intracranial infection. Whole-exome sequencing identified a pathogenic mutation in the triplets, that was located in the 5'-untranslated region of the IFITM5 coding gene, where a base C was converted to T (c.-14C>T). IFITM5 gene of the triplets. IFITM5 gene mutation can result in type V OI, which is inherited in an autosomal dominant pattern. Based on the clinical phenotype caused by the variation in the IFITM5 gene and literature review, the triplets were diagnosed with congenital type V OI. After respiratory support, anti-infection treatment, and symptomatic support treatment, all three triplets were discharged with improved condition. They were followed up to the age of three years and their nutritional status were good. However, their gross motor development was slightly delayed, and they all experienced different degrees and sites of bone fractures again.


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