Objective:To explore the clinical characteristics and genetic variant in a child with neurodevelopmental disorders (NDDs).Methods:Clinical data of a child who had presented at Xiaogan Hospital Affiliated to Wuhan University of Science and Technology in December 2020 due to intermittent convulsions for over a year were retrospectively analyzed. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing and bioinformatic analysis. " HNRNPU gene", "epilepsy", "epileptic encephalopathy", "hereditary epilepsy", "neurodevelopmental disorder", "neurodevelopmental syndrome", " HNRNPU", and "NDDs" were used as the key words to search the CNKI, Wanfang and PubMed databases dated from January 1, 1994 to February 10, 2022. Results:The patient was a 2-year-old boy who had developed seizure at the age of 5 months. His clinical features had included abnormal appearance, recurrent seizures, and low developmental quotients of each functional area as evaluated by the Gesell scale. The child was given sodium valproate for the antiepileptic treatment and rehabilitation training. He had become seizure-free within half a year of follow-up, but his intelligence and motor development did not improve significantly. Genetic testing revealed that he has harbored a heterozygous c. 1720_1722delCTT (p.Lys574del) variant of the HNRNPU gene, which was not found in either of his parents. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic (PS2+ PM2_Supporting+ PM4). A total of 13 articles were retrieved, and the types of HNRNPU gene mutations have included splice site mutation, nonsense mutation, missense mutation, in-frame deletion, gene duplication, frameshifting mutation, and multiple exon deletion. The main clinical manifestations have included mental retardation, language delay, global developmental delay, epilepsy, craniofacial deformity, mental and behavioral abnormalities. Conclusion:The c. 1720_1722delCTT variant of the HNRNPU gene probably underlay the NDDs in this child. Above finding has enriched the mutational spectrum of the HNRNPU gene.

Objective To explore the effect of lyophilized recombinant human brain natriuretic pep-tide(rhBNP)combined with furosemide on serum myocardial enzymes levels in elderly patients with acute heart failure(AHF).Methods A total of 162 elderly AHF patients admitted in our de-partment from January 2020 to November 2023 were recruited,and randomly divided into furose-mide group and furosemide+rhBNP group,with 81 cases in each group.The remission times of clinical symptoms were observed in the two groups.The score of heart failure degree,disease se-verity score,echocardiographic indicators and serum biochemical indicators before and in 2 weeks after treatment were studied and compared between the two groups.These indicators included left ventricular end-systolic diameter(LVESD),left ventricular ejection fraction(LVEF),left ventri-cular end-diastolic diameter(LVEDD),stroke volume(SV),and levels of α-hydroxybutyrate de-hydrogenase(α-HBDH),creatine kinase(CK),creatine kinase isoenzyme(CK-MB),lactate dehy-drogenase(LDH)and micro ribonucleic acid-181b(miR-181b),transient receptor potential C1(TRPC1)and growth differentiation factor 15(GDF-15).Results The remission time of short-ness of breath and time of edema subsidence after treatment were significantly shorter in the furo-semide+rhBNP group than the furosemide group(3.31±0.62 d vs 5.18±1.08 d,3.86±0.82 d vs 6.08±1.19 d,P＜0.01).After treatment,the heart failure degree score,APACHE Ⅱ score,LVEDD,LVESD,and levels of LDH,CK,CK-MB,α-HBDH,TRPC1 and GDF-15 were obviously declined,while LVEF,SV and miR-181b level were notably risen in both groups when compared to the levels before treatment(P＜0.05).Conclusion rhBNP combined with furosemide can shorten the duration of AHF symptoms in the elderly patients.It can not only relieve the disease condition of heart failure,but also improve serum myocardial enzyme indicators,alleviate the my-ocardial injury and protect the heart in the patients.

The incidence of osteoporotic thoracolumbar vertebral fracture (OTLVF) in the elderly is gradually increasing. The kyphotic deformity caused by various factors has become an important characteristic of OTLVF and has received increasing attention. Its clinical manifestations include pain, delayed nerve damage, sagittal imbalance, etc. Currently, the definition and diagnosis of OTLVF with kyphotic deformity in the elderly are still unclear. Although there are many treatment options, they are controversial. Existing guidelines or consensuses pay little attention to this type of fracture with kyphotic deformity. To this end, the Lumbar Education Working Group of the Spine Branch of the Chinese Medicine Education Association and Editorial Committee of Chinese Journal of Trauma organized the experts in the relevant fields to jointly develop Clinical guidelines for the diagnosis and treatment of osteoporotic thoracolumbar vertebral fractures with kyphotic deformity in the elderly ( version 2024), based on evidence-based medical advancements and the principles of scientificity, practicality, and advanced nature, which provided 18 recommendations to standardize the clinical diagnosis and treatment.

Objective:To evaluate the impact of orthopedic robotic assistance and conventional freehand methods on surgical strategies, the safety of pedicle screw placement, and clinical efficacy in patients with upper cervical spine diseases.Methods:From January 2017 to March 2023, a total of 63 cases with upper cervical spine disease, were divided into two groups based on the screw placement technique: the robot-assisted pedicle screw placement (RA) group (41 cases) and the conventional freehand pedicle screw placement (CF) group (22 cases), were retrospectively included. These patients in the RA and CF groups underwent two types of posterior cervical surgery, including occipitocervical fusion (9 cases and 8 cases) and fixation and fusion of atlantoaxial and distal vertebrae (32 cases and 14 cases). The outcome parameters, including the disease course, surgical time, intraoperative blood loss, fluoroscopy frequency, radiation dose, hospital stay, treatment costs, complications, the rate of the pedicle screw placement, accuracy of upper cervical pedicle screw placement, and the risk factors that possibly affected the accuracy were recorded and analyzed. Postoperative follow-up was conducted for at least 6 months, and the efficacy of patients was assessed using imaging parameters, ASIS classification, VAS, and JOA scores.Results:Both groups had no screw-related complications and no spinal cord or vertebral artery injuries. In the RA group, the pedicle screw placement rates for the patients with occipitocervical fusion, and fixation and fusion of atlantoaxial and distal vertebrae were 100% (48/48) and 89.6% (138/154), respectively, far exceeding the placement rate in the CF group 42.9% (18/42) and 78.3% (54/69) (χ 2=37.403, P<0.001; χ 2=5.128, P=0.024). The fluoroscopic exposure dose and operation time of the two types of surgical patients in the RA group were both higher than those in the CF group ( P<0.05). Compared with the CF group, the accuracy of C 1 screws in the RA group increased from 42% (11/26) to 80% (51/64), with statistical significance (χ 2=13.342, P=0.004); while the accuracy of C 2 screws improved from 77% (33/43) to 88% (63/72) with no statistical difference (χ 2=2.863, P=0.413). Non-parametric correlation analysis found a significant correlation between the accuracy of C 1 and C 2 pedicle screw placement and the order of guide wire insertion in the RA group ( r=0.580, P<0.001; r=0.369, P=0.001). Postoperatively, both groups showed significant differences in cervicomedullary angle (CMA), Chamberlain angle (CL), McGregor angle, Boogard angle, Bull angle, clivus-canal angle (CCA), occipitocervical (C 0-C 2) angle, posterior occipitocervical angle (POCA), C 2-C 7 angle, and anterior atlantodental interval (ADI) ( P<0.05). The ASIA classification improved to varying degrees for both groups postoperatively, but there were no statistically significant differences between preoperative, postoperative, and last follow-up evaluations. VAS and JOA scores significantly improved for both groups postoperatively and at the last follow-up ( P<0.05). Conclusion:Both orthopedic robotic-assisted and conventional freehand pedicle screw placement techniques achieved satisfactory therapeutic effects in the treatment of upper cervical spine diseases. The orthopedic robot can effectively ensure the accuracy of upper cervical pedicle screw placement, the increase placement rate of pedicle screws in the upper cervical spine, and reduce fluoroscopy exposure. However, it is necessary to avoid the vertebral displacement caused by the priority insertion of the guide needle, which may affect the accuracy of subsequent planning.

Spinal cord injury leads to extremely high mortality and disability rates and its treatment has always been a global challenge. The survival of patients with spinal cord injury is partially lengthened with the development of medical treatments, but the clinical outcome is still not satisfactory. Some important progress has been made in the basic researches over spinal cord injury, such as analysis of repair mechanism of spinal cord injury and development of cellular therapies and biological scaffolds of spinal cord injury in China. However, some basic researches show insufficient understanding of the microenvironment and animal model of spinal cord injury and lack support from clinical problems, leading to too simplistic or contradictory conclusions. There is an urgent need to reexamine the research methods and carry out basic and clinical translational researches. Therefore, the authors discuss the key problems and difficulties in basic researches over spinal cord injury and propose improvement suggestions, aiming to provide a reference for conducting basic researches correctly and accelerating clinical innovational transformation.

Osteoporotic thoracolumbar fracture in the elderly will seriously reduce their quality of life and life expectancy. For osteoporotic thoracolumbar fracture in the elderly, spinal reconstruction is necessary, which should comprehensively consider factors such as the physical condition, fracture type, clinical characteristics and osteoporosis degree. While there lacks relevant clinical norms or guidelines on selection of spinal reconstruction strategies. In order to standardize the concept of spinal reconstruction for osteoporotic thoracolumbar fracture in the elderly, based on the principles of scientificity, practicality and progressiveness, the authors formulated the Clinical guideline for spinal reconstruction of osteoporotic thoracolumbar fracture in elderly patients ( version 2022), in which suggestions based on evidence of evidence-based medicine were put forward upon 10 important issues related to the fracture classification, non-operative treatment strategies and surgical treatment strategies in spinal reconstruction after osteoporosis thoracolumbar fracture in the elderly, hoping to provide a reference for clinical treatment.

Spinal cord injury is a common clinical disease secondary to spinal cord fractures that causes patients with motor and sensory dysfunction or even paralysis. In recent years, exosomes have participated in the occurrence and development of various diseases as nanometer-sized cell particles, and have received extensive attention. Exosomes derived from spinal cord tissue cells during spinal cord injury affect the injury process and tissue repair. In addition, exosomes as a new treatment for spinal cord injury have been widely studied. The authors document the mechanisms of various exosomes from spinal cord tissue and the repair effects of various cell-derived exosomes in spinal cord injury, in order to deepen the understanding of the role of exosomes in spinal cord injury and provide new ideas for studying the course and treatment of spinal cord injury.

Objective To study the influence of CTP-OD1-HA and CTP-OD2-HA fusion peptides and combined with imatinib on proliferation of K562 cells.Methods K562 cells were treated with CTP-OD1-HA and CTP-OD2-HA peptides or together with imatinib.The proliferation of cells were detected and compared by MTT and clone formation methods.Results MTT examination demonstrated that CTP-OD1-HA and CTP-OD2-HA peptides could inhibit the proliferation of K562 cells,and the effect was more obvious when acted along with imatinib;Clone formation showed that CTP-OD1-HA and CTP-OD2-HA peptides suppressed the continuous colony forming ability of K562 cells.Conclusion CTP-OD1-HA and CTP-OD2-HA could specially inhibit the proliferation of K562 cells,and increase the sensitivity of imatinib.

Objective To explore a new modified stable genioplasty with modified MortiseTenon joints technique and to analyze the surgicaI results in clinic as well as to discuss the advantages in theory.Methods Eleven patients were performed by the genioplasty with Mortise-Tenon joints technique intraoral approach from June 2012 to March 2014,who were suffered from retrusion of chin with different degree accompanying with long chin.The two segments of the chin by osteotomy were made into the Mortise-Tenon joints and fixed by titanium plates.The results were evaluated by clinical appearances and image analyses.Results All 11 patients were satisfied with the procedure and the contour of the chin.The surgical effects were stable without any complications.The advancement in average Mortise-Tenon joints technique was 7.38 mm.Conclusions Much better in stablility and less relapse are achieved by using modified Mortise-Tenon joints technique;furthermore,the genioglossal muscle and geniohyoid muscle are reserved as much as possible,and therefore the normal function of them could be maintained.This method is a good alternative technique for chin retrusion coexisted withlong chin.

Objective To evaluate the role of c-Jun N-terminal kinase (JNK) and p38 mitogen-activated protein kinase (p38MAPK) signaling pathways in reduction of ischemia-reperfusion (I/R) injury by morphine preconditioning in the rats with heart failure.Methods Adult male Sprague-Dawley rats,weighing 200-230 g,in which doxorubicin 2 mg/kg was injected via the tail vein once a week for 6 consecutive weeks to induce chronic heart failure,were studied.At the end of 8th week,45 rats with chronic heart failure were randomly divided into 5 groups (n =9 each) using a random number table:sham operation group (group S),group I/R,morphine preconditioning group (group MPC),SP600125 (JNK inhibitor) + morphine preconditioning group (group MSP) and SB203580 (p38MAPK inhibitor) + morphine preconditioning group (group MSB).Myocardial I/R was induced by 30 min occlusion of the anterior descending branch of the coronary artery followed by 120 min reperfusion in each group except group S.In group MPC,the rats were subjected to 3 cycles of 5-min infusion of 0.1 mg/kg morphine via the femoral vein at 5 min interval before ischemia.In MSP and MSB groups,SP600125 0.5 mg/kg and SB203580 0.2 mg/kg were injected via the femoral vein,respectively,at 10 min before morphine preconditioning.The animals were sacrificed at 120 min of reperfusion,and the myocardial specimens were obtained for determination of the total areas of right and left ventricles (LV+RV),area at risk (AAR),infarct size (IS),and expression of PKC δ in myocardial tissues (by immunohistochemistry),and IS/AAR ratio was calculated.Results There was no significant difference in LV+RV and AAR between the five groups (P＞0.05).Compared with group S,IS and IS/AAR were significantly increased,and the expression of PKC δ was upregulated in I/R and MSB groups (P＜0.05).Compared with group I/R,IS and IS/AAR were significantly decreased,and the expression of PKC δ was down-regulated in MPC and MSP groups (P＜0.05).Compared with group MPC,IS and IS/AAR were significantly increased,and the expression of PKC δ was upregulated in group MSB (P＜0.05),and no significant change was found in the parameters mentioned above in group MSP (P＞0.05).Conclusion Activation of p38MAPK signaling pathway is involved in reduction of myocardial I/R injury by morphine preconditioning,and the mechanism is related to down-regulation of PKC δ expression in rats with heart failure;JNK signaling pathway is not involved in this process.