Objective:To summarize the clinical phenotype and genetic characteristics of children with neurodegeneration caused by UBTF gene mutations in childhood. Methods:The clinical and genetic data of 3 children with neurodegeneration in childhood diagnosed in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University from February 2020 to January 2023 were retrospectively analyzed. All the 3 probands were found having UBTF gene mutations through the whole exome gene sequencing, and the first generation Sanger sequencing method was used to verify the UBTF gene in their family members. The variation characteristics of the UBTF gene were analyzed, and the treatment and follow-up results of the 3 children were summarized. Results:Among the 3 children with childhood onset neurodegeneration, 2 were male and 1 female, aged 9 months, 4 years and 6 months after birth, respectively. The clinical phenotypes mainly included motor retardation, speech and mental retardation, and dystonia. Among them, case 1 and case 2 had seizures, case 1 had dysphagia, feeding problems, no weight gain and ataxia. Brain MRI plain scan showed that case 1 and case 2 had different degrees of cerebral atrophy, case 1 had hypoplasia of corpus callosum, ventricle expansion and softening focus, and case 3 showed non-specific widening of the subarachnoid space. There were no abnormalities in the chromosome copy number variation and mitochondrial ring gene testing in the 3 children; the whole exon gene testing suggested the de novo missense variant in the UBTF gene [NM_014233.4: c.1414(exon14) G>A (p.Gly472Ser), c.1392(exon14)G>T(p.Lys464Asn)] and the maternal nonsense variant [NM_014233.4:c.520C>T(p.Arg174 *)], which were unreported site variants. In terms of treatment, the 3 children received comprehensive rehabilitation function training, and achieved a certain degree of language and intelligence improvement. Seizure control was effectively managed in case 1 with a single antiepileptic drug. Epileptic seizures were effectively treated and controlled in case 2 using more than 4 types of antiepileptic drugs. Conclusions:Neurodegenerative changes caused by UBTF gene mutations in childhood are relatively rare, and some cases may be accompanied with brain atrophy. De novo missense variation and maternal nonsense variation of the UBTF gene are the genetic etiology of the 3 probands.

Inner ear diseases are common in the field of otolaryngology,including hearing loss,tinnitus and peripheral vestibular dysfunction.Their pathogenesis is relatively complex,which is one of the hot spots in current research.A large number of studies have demonstrated that sleep disorder is an important inducement of inner ear diseases.This paper reviews the impact of sleep deprivation on inner ear diseases in order to pro-vide a theoretical basis for the mechanisms of sleep deprivation on inner ear diseases.

BACKGROUND:Stable intertrochanteric fractures can be treated by closed reduction and internal fixation,but there is no absolute advantage for unstable intertrochanteric fractures with osteoporosis. OBJECTIVE:To investigate the efficacy of arthroplasty in the treatment of unstable intertrochanteric fractures in the elderly with osteoporosis by comparing the indexes related to closed reduction internal fixation and arthroplasty. METHODS:Clinical data of 102 elderly patients with unstable intertrochanteric fractures of the femur treated in Affiliated Hospital of Qingdao University from January 2017 to January 2020 were retrospectively analyzed.Patients were divided into two groups according to the surgical method.In the Gamma3 group,62 cases received Gamma3 internal fixation system.In the joint replacement group,40 cases received an artificial femoral head replacement or total hip replacement.Surgical information,hospitalization,hip function,and postoperative complications were compared between the two groups. RESULTS AND CONCLUSION:(1)There were statistical differences between the Gamma3 group and the joint replacement group in weight-bearing time(P＜0.001),hospital stay(P＜0.05),intraoperative bleeding(P＜0.001),and length of surgery(P＜0.001).The mean weight-bearing time and hospital stay were shorter in the joint replacement group than in the Gamma3 group.Intraoperative bleeding and duration of surgery were better in the Gamma3 group than in the joint replacement group.(2)There was no significant difference in Harris hip score,subitem centesimal hip score,and postoperative complications 12 months after surgery in both groups(P=0.526,0.788,0.228).(3)It is indicated that arthroplasty has achieved better outcomes in the treatment of elderly unstable intertrochanteric fractures combined with osteoporosis,enabling early weight bearing and functional exercise.Careful selection of the appropriate patient and prosthesis type for arthroplasty will result in greater patient benefit.

Objective To investigate the role of TLR4/NF-κB signaling pathway in mediating sleep depriva-tion induced endolymphatic hydrops.Methods A total of 30 healthy sprague-dawley(SD)rats were randomly di-vided into the control group、big platform control group,and 2 w,3 w,4 w sleep deprivation group,with 6 rats in each group.Modified multiple platform method was adopted to establish the rat sleep deprivation model.Before and after the experiment,the open field and acoustic brain-stem response(ABR)was conducted to evaluate the behavior and hearing level.After ABR test,blood samples were collected from abdominal aorta,and serum levels of TNF-αand MCP-1 were detected by ELISA.The cochlea was dissected,the severity of endolymphatic hydrops was as-sessed by calculating the ratio of the cross sectional area of the membranous cochlear duct(SM)to that of the mem-branous cochlear duct+scale vestibuli(SM+SV).Positive expression of IL-1β,TNF-α,MCP-1,TLR4,NF-κB P65 in rat cochlear tissues was detected via immunohistochemical staining.After the experiment,the changes of hearing level,the severity of endolymphatic hydrops and TLR4/NF-κB signaling pathway related proteins and down-stream inflammatory factors expression level were observed.The correlation between TLR4/NF-κB signaling path-way and hearing level and endolymphatic hydropsin rats was analyzed.Results ABR results showed an increased threshold of wave Ⅱ in the sleep deprivation group compared to those of the control group and big platform control group(P＜0.05).The rate of hydrops was 0％in control and big platform control groups,16.67％in 2w sleep deprivation group and 25％in 3 w and 4 w sleep deprivation group.The concentrations of TNF-αand MCP-1 in ser-um of rats in sleep deprivation groups were higher than those in control and big platform control groups,and the 4w sleep deprivation group were statistically significant compared with control and big platform control groups.The ex-pressions of IL-1β,TNF-α,MCP-1,TLR4 and NF-κB P65 in the cochlear spiral ganglion,spiral canal,stria vascu-laris and spiral ligament of rats in sleep deprivation groups were higher than those in control and big platform control groups.Conclusion Sleep deprivation may induce endolymphatic hydrops by the TLR4/NF-κB signaling pathway.

Ménière disease(MD)is a complex inner ear disorder with an uncertain cause and multiple contrib-uting factors.Affective disorders,such as anxiety,depression,insomnia,and other mood disorders,are common mental illnesses characterized by mood instability.There is a reciprocal relationship between affective disorders and MD,leading to a vicious cycle that worsens the progression of MD.This paper provides a comprehensive summary of the mechanisms linking affective disorders to MD,including changes in hormone levels and tissue damage caused by inflammation.It also explores how affective disorders influence MD through their effects on hormones and in-flammation.Additionally,the feasibility and effectiveness of psychotherapy in treating MD are discussed,with the aim of offering potential avenues for future MD treatment.

Objective:By detecting the levels of proteins in the Toll-like receptor-4/nuclear factor-κB （TLR4/NF-κB） signaling pathway and downstream proinflammatory cytokines in peripheral blood of patients with Meniere's disease （MD）, Pittsburgh Sleep Quality Index （PSQI） scores were collected to investigate the correlation between sleep disorders and MD and the role of TLR4/NF-κB signaling pathway in mediating sleep disorders inducing MD. Methods:Thirty-two MD patients and 20 family members of patients without middle ear and inner ear related diseases were selected. Basic data, PSQI and fasting peripheral blood of all subjects were collected. Enzyme linked immunosorbent assay.The levels of interleukin-1β（IL-1β）, tumor necrosis factor-α（TNF-α）, monocyte chemokine-1（MCP-1）, Toll-like receptor 4（TLR4） and nuclear factor-κB（NF-κB） in peripheral blood were detected by ELISA, and the data were statistically analyzed. Results:①PSQI score of MD group was higher than that of normal control group, and the difference was statistically significant（P<0.01）; The scores of every factors of PSQI in MD group were higher than those in normal control group, and the scores of factors 2, 4 and 6 were significantly different from those in normal control group. ②In the MD group, there were 18 patients with sleep disorders, with a prevalence rate of 56.25%, including 6 males with a prevalence rate of 50.00% and 12 females with a prevalence rate of 60.00%. ③The levels of five test indexes in MD group, sleep disorder group and non-sleep disorder group were higher than those in control group, and the levels of TLR4 and NF-κB in MD group were significantly different from those in control group（P<0.05）. The levels of IL-1β, TNF-α, TLR4 and NF-κB in sleep disorder group were significantly different from those in control group（P<0.05）. The levels of five test indexes in non-sleep disorder group were not statistically significant compared with those in control group. The levels of five test indexes in the MD sleep disorder group were higher than those in the MD group and the non-sleep disorder group, with no statistical significance. The levels of five test indexes in MD group were higher than those in non-sleep disorder group, with no statistical significance（P>0.05）. Conclusion:①Sleep disorders may be one of the important predisposing factors of some MD, and the effects of sleep disorders on MD are different between the sexes. ②Sleep disorders may activate TLR4/NF-κB signaling pathway to induce MD. The selection of TLR4/NF-κB signaling pathway related proteins and downstream pro-inflammatory factor inhibitors to intervene MD may provide a new idea for protecting the hearing balance function of MD.
Female ; Humans ; Male ; Meniere Disease ; NF-kappa B/metabolism* ; Signal Transduction ; Sleep Deprivation ; Toll-Like Receptor 4 ; Tumor Necrosis Factor-alpha/metabolism*

Objective:To summarize and discuss the concept and clinical manifestations of complex fracture-dislocations of the elbow in children, and compare its injury characteristics, treatment and clinical effect with adults.Methods:From September 2015 to January 2020, 34 patients seen and treated at our institution for complex fracture-dislocations of the elbow were identified, and their medical records and radiographs were reviewed retrospectively. The inclusion criteria were elbow dislocation combined with one or more fractures at the proximal ulna and radius. There were 25 boys and 9 girls, with an average age of 8.3±3.2 years. The left arm was involved in 27 cases, and the right arm was involved in 7 cases. The causes of injury included falling from a scooter in 16 cases, falling from height in 10 cases, cycling in 5 cases and traffic accident in 3 cases. All patients were treated with closed reduction and the application of plaster under local anaesthesia in the emergency room. Then, X-ray, CT and MRI were performed to evaluate the fracture-dislocation and ligament injury. The following treatment plan was comprehensively evaluated according to the size and displacement of the combined fracture block and the stability of the elbow, for example, open reduction with K-wires and tension band or plate fixation for olecranon fracture, open reduction with loop plate fixation for coronal process fracture, closed reduction or open reduction with K-wires or elasticstable intramedullary nail for radial neck fracture.Results:Among the 34 patients, there were 16 cases of transolecranon fracture-dislocation, 1 case of varus posteromedial rotational instability, 4 cases of valgus posterolateral rotatory instability and 13 cases of divergent dislocation of elbow. All patients were followed up for 13(8, 15) months, and the average fracture healing time was 3.5±0.8 weeks, with no failure of internal fixation. In 2 cases of elbow dislocation combined radial neck fracture, one case had ischemic necrosis of the radial head and one case had early closure of epiphyseal plate of the proximal radius. At the last follow-up, all patients had no subluxation, dislocation or instability of the elbow. The therapeutic efficacy was evaluated at the final follow-up by the Mayo elbow performance score (MEPS) as excellent in 25 cases, good in 5 cases, fair in 3 cases, and poor in one case, with excellent and good rate 88%.Conclusion:The complex fracture-dislocations of the elbow is rare in children. We have the opinion that the clinical characteristics are dislocation combined with one or more fractures of the proximal ulna and radius. Compared with adults, its pathological characteristics and the scope of injury are similar, but most of the injuries are mild. The clinical manifestations are mainly transolecranon fracture-dislocation and divergent dislocation of elbow. Good results can be achieved in most cases through open reduction with internal fixation for fractures.

Objective:To discuss the pathological characteristics and strategy for diagnosis and treatment of the transolecranon fracture-dislocation of the elbow in children.Methods:Retrospectively reviewed were the 15 patients who had been treated at Hospital of Pediatric Orthopedics, Xi'an Honghui Hospital from October 2016 to March 2019 for transolecranon fracture-dislocation of the elbow. They were 11 boys and 4 girls, with an average age of 8.3 years (from 5 to 14 years) and 10 left and 5 right arms injured. Type Ⅰ (simple fracture) was found in 11 cases and type Ⅱ (comminuted fracture) in 4 cases in 3 of which the coronoid process was affected. Of them, 14 were treated successfully with closed reduction and plaster fixation under local anesthesia in emergency but one was unsuccessfully. Of the 11 simple fractures, 10 received tension band fixation with Kirschner wire and a short oblique one underwent bone plate fixation; the 4 comminuted fractures were treated by fixation with a combination of Kirschner wire and bone plate.Results:The 15 patients obtained follow-up for 8 to 15 months (average, 11 months). The final follow-up observed fine anatomical relationship of the elbow in all patients, and no such complications as relapse of radial head dislocation, avascular necrosis of the trochlea or early closure of the epiphyseal plate. The transolecranon fracture-dislocation of the elbow obtained bony union in all patients after 5 to 7 weeks (average, 5.6 weeks). The therapeutic efficacy was evaluated at the final follow-up by the Mayo elbow performance score as excellent in 11 cases, as good in 3 and as fair in one.Conclusions:As a type of complicated fracture-dislocation of the elbow, the transolecranon fracture-dislocation of the elbow is rare in children, mainly manifested as simple ones. Treatment options depend on the type of fracture-dislocation. Only anatomical reduction of the olecranon fracture and restoration of a normal trochlear notch can lead to a stable humeroradial joint and thus fine clinical efficacy.

Objective:To evaluate the treatment of nonunion of lateral humeral condyle complicated with cubitus valgus with primary fixation in situ and secondary supracondylar varus osteotomy.Methods:A retrospective analysis was made of the 8 children who had been treated for nonunion of lateral humeral condyle complicated with cubitus valgus at Department of Pediatric Orthopedics, Honghui Hospital from January 2016 to March 2018. They were 5 boys and 3 girls with 5 left and 3 right sides involved. Their age at injury ranged from 6 to 14 years (average, 10 years) and the duration from injury to operation from 2 to 6 years (average, 4 years). At the primary stage, the fragments were fixated in situ with compressive cannulated screws after cleaning the nonunion ends, followed by iliac autograft. At the secondary stage, the humeral supracondylar varus osteotomy was performed after the nonunion was healed and the elbow range of motion recovered. The therapeutic effects were assessed by comparing the elbow range of motion, carrying angle and Mayo elbow performance score (MEPS) between preoperation and the final follow-up.Results:All the patients were followed up for an average of 44.5 months (range, from 27 to 64 months). The average healing time for obsolete nonunion of lateral humeral condyle was 81.3 days (range, from 55 to 120 days) after the primary operation and that for supracondylar varus osteotomy 51.1 days (range, from 45 to 60 days) after the secondary operation. The elbow range of motion was 129.0°±4.6° before operation and 138.0°±5.4° at the final follow-up, showing a significant difference ( P<0.001). The average carrying angle at the healthy side in 8 children was 5.4° (range, from 3° to 8°). The carrying angle at the affected side was 31.9°±4.7° (range, from 25° to 42°) before operation and 4.0°±2.2°(range, from 1° to 8°) at the final follow-up, showing a significant difference ( P<0.05). Their preoperative MEPS was 57.5 ± 6.5 (4 good cases and 4 poor ones) but 95.9±3.4 (6 excellent cases and 2 good ones) at the final follow-up, showing a significant difference ( P<0.05). Conclusions:Treatment of nonunion of lateral humeral condyle complicated with cubitus valgus can be effectively carried out by cleaning fibrous tissue in the nonunion gap, iliac autograft and fragments fixation in situ with compressive cannulated screws at the primary stage and supracondylar varus osteotomy at the secondary stage. Intraoperative preservation of the blood supply to the nonunited fragments is the key to successful management.

Objective To evaluate the clinical efficacy of arthrography in the treatment of lateral condylar fracture of humerus with displacement of ≤ 2 mm in children.Methods A retrospective study was performed in the 21 children with lateral condylar fracture of humerus who had received arthrography in their surgery at Department of Pediatric Orthopedics,Honghui Hospital,Xi'an Jiaotong University College of Medicine from April 2015 to December 2016.They were 14 boys and 7 girls,aged from 5 to 12 years (average,8.6 years).Their primary diagnosis was made within one week from injury and they all had a displacement of ≤ 2 mm.Of them,2 were treated by plaster fixation because intraoperative arthrography found no fracture of articular cartilage (group A),11 by simple closed pining because intraoperative arthrography found fracture of articular cartilage involving the joint space (group B),and 8 by open reduction and fixation with kirschner wire because intraoperative arthrography found displacement of the involved articular surface (group C).The therapeutic efficacy was evaluated at final follow-ups by the Dhillon scoring system.Results All the 21 children were followed up from 9 to 23 months (average,16 months).The fracture union time ranged from 8 to 10 weeks (average,9 weeks) for groups A and B and from 11 to 13 weeks (average,12 weeks) for group C.By the Dhillon scores at final follow-ups,the therapeutic efficacy was evaluated as excellent in one and as good in one in group A,as excellent in 8 cases,as good in 2 cases and as fair in one in group B,and as excellent in 6 cases,as good in one and as fair in one in group C.No early closure of epiphysis,osteonecrosis or fishtail deformity was found in either group A or group B;one case of partial limitation of elbow flexion or extension,one case of fishtail deformity and one case of femoral head necrosis were observed in group C.No infection or skin necrosis was found in any of the 3 groups.Conclusions Because intraoperative arthrography can definitely judge whether the articular surface is intact or unstable,it can make up for the insufficiency of X-rays in judging integrity of the articular surface.In combination with closed reduction,percutaneous puncture or open reduction and internal fixation,intraoperative arthrography can contribute to an increased rate of successful surgery,and reduced complications due to redisplacement.