Objective:To analyze the clinical and genetic characteristics of congenital hypogonadotropic hypogonadism (CHH) in boys.Methods:Cross-sectional study.Clinical data, laboratory data and genetic results of boys who were genetically diagnosed with CHH at the Department of Endocrinology of Shenzhen Children′s Hospital from December 2019 to February 2023 were collected in this retrospective study.Their clinical manifestations, hormone levels and gene mutations were analyzed.The non-normal distribution was represented by the median.The rank sum test was used to compare the non-normal distribution data between the two groups.Results:A total of 27 boys were genetically diagnosed with CHH, with the age at first diagnosis ranging from 0.3 to 16.6 years old.All these children presented with micropenis (100%), of whom 16 were complicated with cryptorchidism (59.3%), 9 with microrchidia (33.3%), 7 with simple micropenis (25.9%), and no had simple cryptorchidism.Three children had cardiovascular dysplasia.The median of basal luteinizing hormone(LH) level was 0.09 IU/L, and 92.5%(25/27) of children had the basal LH level below 1.00 IU/L.The median of peak LH level after gonadotropin-releasing hormone(GnRH) stimulation was 1.42 IU/L, and 96.2%(26/27) of children had the peak LH level below 4.00 IU/L.The median of serum inhibin B was 41.15 μg/L, and the median of serum anti-Müllerian hormone(AMH) was 12.62 mg/L.The serum AMH level of children with cryptorchidism was significantly lower than that of children without cryptorchidism (10.02 mg/L vs.50.50 mg/L, P<0.05). A total of 12 gene mutations were detected in the 27 children, of which 1 was biallelic mutation.The most common gene mutations were in CHD7 and ANOS1 genes (7 children each, both accounting for 51.8%), followed by FGFR1 gene (3 children, 11.1%). After short-term treatment by GnRH pump or subcutaneous injection of recombinant human follicle stimulating hormone in 4 children, the levels of serum inhibin B and AMH increased significantly, and the testicular volume also increased. Conclusions:CHH is a congenital disease with different clinical manifestations at different ages.The main manifestations in childhood are micropenis and cryptorchidism, and some children have microrchidia.Its diagnosis in prepuberty is difficult, but genetic testing is of great significance for early diagnosis.

Objective:To explore the efficacy of stage I modified posterior vertebral column resection (mPVCR) in the treatment of postoperative infection after percutaneous vertebroplasty (PVP) for osteoporotic vertebral compression fracture (OVCF).Methods:A retrospective case series study was conducted to analyze the clinical data of 11 OVCF patients with post-PVP infection who were admitted to Zhengzhou Orthopedics Hospital from January 2016 to June 2022, including 4 males and 7 females, aged 61-81 years [(70.2±6.4)years]. Injured segments included T 9 in 1 patient, T 11 in 2, T 12 in 3, L 1 in 1, L 2 in 2, T 11-T 12 in 1, and T 12-L 1 in 1. American Spinal Injury Association (ASIA) grading was grade D in 5 patients and grade E in 6. All the patients were treated with stage I mPVCR. The operation time and intraoperative bleeding volume were recorded. The values of Visual Analogue Scale (VAS), Oswestry Dysfunction Index (ODI), and Cobb angle of the lesion segments before, at 2 weeks, 3 months after surgery, and at the last follow-up were compared. The loss of Cobb angle of the lesion segments at 2 weeks after surgery and at the last follow-up were compared, and the ASIA grading at the last follow-up was recorded. The infection control, bone healing, and the incidence of complications were observed at the last follow-up. Results:All the patients were followed up for 12-44 months [(26.0±9.4)months]. The operation time and intraoperative bleeding volume were 230-330 minutes [(279.2±28.6)minutes] and 500-1 100 ml [(840.9±184.1)ml] respectively. At 2 weeks, 3 months after surgery and at the last follow-up, the VAS scores were (4.0±0.8)points, (2.7±0.9)points, and (2.4±0.7)points respectively, which were all lower than that before surgery [(8.1±1.2)points] ( P<0.01); the ODI was (45.5±5.1)%, (30.0±6.5)%, and (18.5±3.6)% respectively, which were all lower than that before surgery [(78.7±6.2)%] ( P<0.01); the Cobb angle of the lesion segments were (7.9±1.4)°, (8.5±1.4)°, and (9.2±1.5)° respectively, which were lower than that before surgery [(25.5±9.2)°] ( P<0.01). The VAS and ODI were both improved at 3 months after surgery compared with those at 2 weeks after surgery ( P<0.05), while there was no significant difference in Cobb angle of the lesion segments ( P>0.05). The ODI was further improved at the last follow-up compared with that at 3 months after surgery ( P<0.05), while there were no significant differences in VAS or Cobb angle of the lesion segments ( P>0.05). The loss of Cobb angle correction of the lesion segment at the last follow-up was 0.96 (0.69, 1.45)° compared with that at 2 weeks after surgery and the rate of loss of Cobb angle correction of the lesion segment was 4.4(2.2, 7.4)%. At the last follow-up, the ASIA grading was grade E for all the patients, who were able to walk normally independently. The infection was all cured and good bony fusion was observed in the operated area at the last follow-up. Two patients had pleural effusion and pulmonary atelectasis, 1 incision fat liquefaction, and 1 pneumonia after the surgery. None of the patients had internal fixation failure and serious complications such as worsening neurological symptoms or death. Conclusion:Stage I mPVCR for the treatment of post-PVP infection in patients with OVCF is proved to attain significant pain relief and functional improvement, good correction results, effective reconstruction of spinal stability, complete removal of infected lesions, and few serious complications.

Objective:To investigate the efficacy of one-stage posterior-anterior combined operation for the treatment of abnormal fusion after facet joint dislocation in the subaxial cervical spine.Methods:A retrospective study of case series was conducted to analyze the clinical data of 10 patients with abnormal fusion after facet joint dislocation in the subaxial cervical spine who had been admitted to Department of Spine Surgery, Zhengzhou Orthopedic Hospital from January 2015 to May 2023. There were 7 males and 3 females with an age of (41.2±3.1) years. Preoperative American Spinal Injury Association (ASIA) grading: 5 cases of grade A, 4 cases of grade B, and 1 cases of grade C. All the patients were treated with one-stage posterior-anterior combined operation. The surgical time and intraoperative bleeding volume were recorded. The ASIA grading was used to evaluate the improvements in nerve function of the spinal cord 3 months after surgery. The VAS scores, cervical intervertebral heights, and Cobb angles were compared between pre-surgery, 3 months after surgery, and the last follow-up. The fusion of intervertebral bone graft was evaluated 3 months after surgery using the Bridgell intervertebral fusion criteria. Complications were observed.Results:All patients were followed up for 15.5 (13.8, 20.5) months. The surgical time was (119.5±3.6) minutes, and the intraoperative bleeding volume (141.6±25.6) mL. Significant improvements in VAS score, cervical intervertebral height, and Cobb angle were observed at 3 months after surgery and the last follow-up compared with the pre-surgery values ( P<0.05), but there was no statistically significant difference between 3 months after surgery and the last follow-up ( P>0.05). ASIA grading 3 months after surgery: 4 cases of grade A, 4 cases of grade B, and 2 cases of grade C. By the Bridgell intervertebral fusion criteria at 3 months after surgery: 9 cases of grade Ⅰ and 1 cases of grade Ⅱ, showing good intervertebral fusion. Surgery went on well for all patients, showing no postoperative complications such as aggravation of nerve lesion or vascular injury. Conclusion:In the treatment of abnormal fusion after facet joint dislocation in the subaxial cervical spine, the efficacy of one-stage posterior-anterior combined operation is definite because it can effectively reduce pain, restore the height and physiological curvature of the cervical intervertebral space, and achieve good intervertebral fusion.

Objective Viral encephalitis is an infectious disease severely affecting human health.It is caused by a wide variety of viral pathogens,including herpes viruses,flaviviruses,enteroviruses,and other viruses.The laboratory diagnosis of viral encephalitis is a worldwide challenge.Recently,high-throughput sequencing technology has provided new tools for diagnosing central nervous system infections.Thus,In this study,we established a multipathogen detection platform for viral encephalitis based on amplicon sequencing. Methods We designed nine pairs of specific polymerase chain reaction(PCR)primers for the 12 viruses by reviewing the relevant literature.The detection ability of the primers was verified by software simulation and the detection of known positive samples.Amplicon sequencing was used to validate the samples,and consistency was compared with Sanger sequencing. Results The results showed that the target sequences of various pathogens were obtained at a coverage depth level greater than 20×,and the sequence lengths were consistent with the sizes of the predicted amplicons.The sequences were verified using the National Center for Biotechnology Information BLAST,and all results were consistent with the results of Sanger sequencing. Conclusion Amplicon-based high-throughput sequencing technology is feasible as a supplementary method for the pathogenic detection of viral encephalitis.It is also a useful tool for the high-volume screening of clinical samples.

Objective To investigate the pathological damage to and inflammation of different intestinal segments in a rat model of severe hemorrhage,and to explore the effect of polarization of intestinal macrophage on the pathophysiology of intestinal inflammation.Methods Male Wistar rats were randomly divided into two groups:the sham operation group and hemorrhage group.In the hemorrhage group,40％of the total blood volume was lost in 25-30 minutes,while in the sham operation group,only the femoral artery and vein were intubated without bleeding.The rats were killed at 0,3,6,12 and 24 hours.The entire intestine was isolated quickly,and sections of the intestine were cut at the duodenum,jejunum,ileocecal junction,colon and rectum for histopathological evaluation.ELISA was adopted to determine related inflammation factors while multi-color immunohistochemistry was used to calculate macrophage surface markers.The data was statistically analyzed.Results(1)Compared with the sham group,there was no significant difference in colon histology at 3 h and 6 h,but significant difference was detected in rectum scores only at 24 h.The scores of other intestinal segments were significantly different at each time point.The severity of ileocecal and colonic lesions after bleeding increased with time.The duodenum,jejunum and ileocecum were more critically injured at 3 h than the rectum at 6 h.The injury to the duodenum,jejunum,ileum and colon was much more pronounced than to the rectum at 12 h.(2)The expressions of TNF-α and IL-1β in the rectum were increased significantly at 12 h post operation.The expressions of IL-1β,TNF-α in the jejunum increased obviously at 3 h and 6 h,respectively.(3)Three hours after severe bleeding,the level of macrophages in the jejunum and ileocececal area increased significantly,and the percentage of M1 macrophages was higher.After 6 hours,the proportion of M2 macrophages in the jejunum and M1 macrophages decreased significantly.After 3 hours,the percentage of M1 macrophages in the colon decreased,but that of M2 macrophages increased.The proportion of M2 polarized macrophages in the duodenum and rectum increased at 3 h after severe bleeding but decreased at 6 h.Conclusion Pathological damage to intestinal sections after bleeding varies depending on the time,and is correlated with the inflammatory level of macrophages.

Objective To explore the effect of mindfulness training on mental health of elite athletes and its possible mechanism.Methods Totally 462 Chinese elite athletes(Mage=18.16,SD=3.14,Range=12～28,44.8%female)were conducted a cross-sectional questionnaire survey.SPSS23 was employed for data statistical analysis,and the mediation model was tested through the Bootstrap program of the extension program PROCESS.Results Mindfulness significantly and negatively predicted anxiety(β=-0.386,P<0.001),depression(β=-0.342,P<0.001),and poor sleep quality(β=-0.324,P<0.001),but significantly and positively predicted training&competition satisfaction(β=0.432,P<0.001)and psychological well-being(β=0.399,P<0.001).Moreover,mindfulness showed significant effects on anxi-ety,poor sleep quality,and satisfaction to training and competition through experiential acceptance,cognitive defusion,and decentering.However,it performed significant impacts on their depression and psychological well-being only through experiential acceptance and cognitive defusion.Conclusion Mind-fulness directly predicts negative reactions such as anxiety,depression and poor sleep quality,as well as positive ones including training and competition satisfaction and psychological well-being in elite ath-letes.Moreover,it has indirect effects on anxiety,poor sleep and training and competition satisfaction through experiential acceptance,cognitive defusion and decentering,together with on depression and psychological well-being through the former two factors.

Objective:To evaluate the application of digital visualization in preoperative planning for surgical clearance of vertebral infection lesions following percutaneous vertebroplasty (PVP).Methods:A retrospective study was conducted to analyze the 13 patients with infectious spondylitis following PVP who had undergone one-stage posterior debridement and interbody bone grafting combined with instrumentation at Department of Spinal Surgery, Zhengzhou Orthopaedics Hospital from January 2016 to December 2022. They were 4 males and 9 females with an age of (71.4±6.5) years. Before surgery, the CT raw data of the patients were imported into software Mimics to reconstruct a three-dimensional model of the spine. After the distribution of bone cement in the model and its relationships with the vertebral plate, pedicle, articular process, and spinal cord were observed, a safe area for spinal canal surgery was designed. Intraoperative operations were carried out according to the preoperative planning. Surgical time, intraoperative blood loss, improvements in American Spinal Injury Association (ASIA) grading, and postoperative complications were recorded. The therapeutic efficacy was evaluated by comparisons of erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), visual analogue scale (VAS), and Oswestry disability index (ODI) between preoperation, 2 weeks and 3 months postoperation, and the last follow-up.Results:Surgery went on successfully in all the 13 patients according to the preoperative planning. The surgical time was (275.9±28.3) min and the intraoperative blood loss (865.4±183.0) mL. All patients were followed up for (24.7±9.4) months. The levels of ESR, CRP, VAS, and ODI at 2 weeks, 3 months and the last follow-up were significantly lower than those before surgery ( P<0.05). At the last follow-up, X-ray and CT examinations showed good positions of internal fixation and sufficient bone graft fusion. The ASIA grading recovered from preoperative D to E in 5 patients. No incision infection, sinus formation, worsening of neurological symptoms, loosening or rupture of internal fixation, or worsening of neurological dysfunction were found. Conclusion:With the assistance of 3D visualization, the spinal cord, bone cement, and debridement area can be visualized directly to reduce nerve injury complications so that a safe and effective preoperative planning can be made for surgical clearance of vertebral infection lesions following PVP.

Objective To investigate the correlation of corneal biomechanical parameters with ocular aberrations as well as corneal anterior surface aberrations in patients with myopia. Methods A total of 95 patients (190 eyes) with myopia were selected as study subjects. Ocular aberrations and corneal anterior surface aberrations were measured, and the total root mean square (RMS) and root mean square of high order aberration(RMSh) were recorded. Corneal biomechanical parameters, including central corneal thickness (CCT), intraocular pressure (IOP), Goldmann-correlated IOP (IOPg), corneal-compensated intraocular pressure (IOPcc), corneal hysteresis (CH), and corneal resistance factor (CRF) were also measured. The corneal biomechanical parameters, total RMS, and total RMSh were compared among patients with different degrees of myopia. Pearson correlation analysis was used to assess the correlations of corneal biomechanical parameters with ocular and corneal anterior surface high-order aberrations (coma and spherical aberration). Results The corneal anterior surface aberrations (total RMS and total RMSh) in both left and right eyes of the 95 patients were greater than the ocular aberrations(P < 0.05). The total RMS of both the ocular and corneal anterior surfaces was higher in patients with high myopia compared to those with moderate and low myopia, and was also higher in patients with moderate myopia compared to those with low myopia (P < 0.05). Correlation analysis revealed there were strong positive correlations of IOP with the spherical aberration of both the ocular and corneal anterior surfaces in patients with low and moderate myopia (P < 0.01), as well as a strong positive correlation between IOP and the ocular aberrations in patients with high myopia(P < 0.01). IOPg showed strong positive correlations with the ocular aberrations in patients with low, moderate, and high myopia (P < 0.01), as well as a strong positive correlation with the corneal anterior surface spherical aberration in patients with moderate myopia (P < 0.01). IOPcc was positively correlated with the ocular aberrations in patients with low and moderate myopia (P < 0.05). CRF and CH were positively separately correlated with the spherical aberration of both the ocular and corneal anterior surfaces in patients with low and moderate myopia (P < 0.05), and positively correlated with the ocular aberrations in patients with high myopia (P < 0.05). Conclusion The ocular aberrations in patients with myopia are typically smaller than the corneal anterior surface aberrations. IOP, IOPg, and IOPcc are all correlated with ocular aberrations, and the correlation between corneal biomechanical parameters and high-order aberrations is stronger in patients with low myopia compared to those with moderate and high myopia.

BACKGROUND: Catheter-based pulmonary vein isolation (PVI) is an effective and well-established intervention for symptomatic paroxysmal atrial fibrillation (PAF). Nevertheless, late recurrences of atrial fibrillation (LRAF) occurring during 3 to 12 months are common, and the underlying mechanisms remain elusive. Circular RNAs (circRNAs) in atrial tissue have been linked to the pathophysiological mechanisms and progression of PAF in a few studies. However, their expression patterns in peripheral blood and regulatory function in LRAF are not clear. METHODS: In the present study, the expression profile of circulating circRNAs in three paired nonvalvular PAF patients with or without LRAF was investigated by high-throughput sequencing and validated by quantitative real-time polymerase chain reaction (qRT-PCR). Bioinformatics analyses, including Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis, and circRNA/miRNA regulatory network, were performed to predict the functions and potential regulatory roles of differentially expressed (DE) circRNAs. RESULTS: A total of 12,834 circRNAs, comprising 5,491 down-regulated and 7,343 up-regulated circRNAs, were found to be DE in blood smaples from the two groups in peripheral blood between LRAF and non-recurrence control individuals. The most enriched GO categories in terms of molecular function, biological process, and cellular component features were catalytic activity, cellular metabolic process, and intracellular part, respectively. The KEGG enrichment study revealed that the most important metabolic process controlled by DE circRNAs is endocytosis. In the circRNA/microRNAs interaction network, four up-regulated circRNAs (hsa_circ_0002665, hsa_circ_0001953, hsa_circ_0003831, and hsa_circ_0040533) and one down-regulated circRNA (hsa_circ_0041103) were predicted to play potential regulatory roles in the pathogenesis of LRAF. CONCLUSIONS This investigation discovered the expression pattern of circulating circRNAs that is indicative of PAF late recurrence, which may serve as risk markers or therapeutic targets for LRAF after PVI.

Humans ; Core Binding Factor Alpha 2 Subunit/genetics* ; Translocation, Genetic ; Leukemia, Myeloid, Acute/genetics* ; Prognosis ; High-Throughput Nucleotide Sequencing ; RUNX1 Translocation Partner 1 Protein/genetics* ; Oncogene Proteins, Fusion/genetics*