Objective:To analyze the short-term clinical efficacy and safety of arsenic trioxide (ATO) combined with a modified N7 induction regimen in the treatment of children with high-risk neuroblastoma (NB).Methods:This study was a prospective, single-arm, multicenter phase Ⅱ clinical study. Sixty-seven high-risk NB children from eight units of Sun Yat-sen Memorial Hospital of Sun Yat-sen University, Wuhan Children′s Hospital of Tongji Medical College of Huazhong University of Science and Technology, First Affiliated Hospital of Guangxi Medical University, Hainan General Hospital, Affiliated Hospital of Guangdong Medical University, Kunming Children′s Hospital, Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology, and Guangdong Provincial Agricultural Reclamation Center Hospital were enrolled from January 2019 to August 2023 and were treated with ATO combined with a modified N7 induction regimen. The efficacy and adverse effects at the end of induction chemotherapy were assessed and analyzed, and the differences in the clinical characteristics were further compared between the treatment-responsive and treatment-unresponsive groups by using the Fisher′s exact test.Results:Among 67 high-risk NB children, there were 40 males (60%) and 27 females (40%), with the age of disease onset of 3.5 (2.6, 4.8) years. Primary NB sites were mostly in retroperitoneum (including adrenal gland) (56/67, 84%) and the common metastases sites at initial diagnosis were distant lymph node in 25 cases (37%),bone in 48 cases (72%),bone marrow in 56 cases (84%) and intracalvarium in 3 cases (4%). MYCN gene amplification were detected in 28 cases (42%). At the end of induction, 33 cases (49%) achieved complete remission, 29 cases (43%) achieved partial remission, 1 case (1%) with stable disease, and 4 cases (6%) were assessed as progressive disease (PD). The objective remission rate was 93% (62/67) and the disease control rate was 94% (63/67). The percentage of central system metastases at the initial diagnosis was higher in the treatment-unresponsive group than in the treatment-responsive group (2/5 vs. 2% (1/62), P=0.013), whereas the difference in MYCN gene amplification was not statistically significant between two groups (3/5 vs.40% (25/62), P=0.786). Grade Ⅲ or higher adverse reactions during the induction chemotherapy period were myelosuppression occurred in 60 cases (90%), gastrointestinal symptoms occurred in 33 cases (49%), infections occurred in 20 cases (30%), hepatotoxicity occurred in 4 cases (6%), and cardiovascular toxicity occurred in 1 case (2%). There were no chemotherapy-related deaths. Conclusion:ATO combined with N7-modified induction regimen had a superiority in efficacy and safety, which deserved further promotion in clinical practice.

Objective:To report the first case of sever fever with thrombocytopenia syndrome caused by severe fever with thrombocytopenia syndrome virus (SFTSV) in Puyang city, and to study the epidemiological and molecular characteristics of S, M, L fragments of the SFTSV isolate.Methods:The epidemiological characteristics of this case was analyzed with epidemiological methods. SFTSV was isolated from the patient′s serum sample. Nucleic acid of SFTSV was extracted and detected by fluorescent RT-PCR. A multiplex PCR method was constructed to amplify the nucleic acid sequence of the virus. whole-genome sequencing was performed on the next-generation sequencing platform. MEGA11 and DNAStar was used for homology analysis and a phylogenetic tree was constructed.Results:Epidemiological investigation showed that the patient and his close contacts had no history of travel or tick bite within 14 d, but had a history of fieldwork. The patient′s serum sample was positive for SFTSV nucleic acid. Genetic analysis showed that the S, M, L gene fragments of the first SFTSV isolate in Puyang belonged to genotype E. This isolate shared 94.8%-99.6%, 94.0%-99.8% and 95.7%-99.7% nucleotide sequence homology with the representative strains acquired from GeneBank in S, M, L gene fragments, respectively.Conclusions:This case was the first case of SFTSV-caused severe fever with thrombocytopenia syndrome in Puyang. The SFTSV isolate shared a close homology with domestic isolates, but its genotype was significantly different from the SFTSV strains isolated in Henan in recent years, indicating that it might an imported case from other places in Henan Province or Hubei Province. Disease monitoring and professional training for medical personnel should be strengthened and more attention should be paid to the evolution and mutation of SFTSV.

Objective:To evaluate the clinical efficacy of the axillary approach in the treatment of scapular glenoid fracture.Methods:A retrospective analysis was performed of the 12 patients who had been treated for scapular glenoid fracture from November 2019 to April 2021 at Department of Upper Limb Orthopaedics, Zhengzhou Orthopaedic Hospital. They were 4 males and 8 females, aged from 30 to 75 years (mean, 53.5 years). According to the Ideberg classification, there were 2 cases of type Ⅰa, 9 cases of type Ⅱ and one case of type Ⅴa. All cases were treated through the axillary approach. Two patients complicated with anterior shoulder dislocation were treated with manual reduction under anesthesia before operation and the other 10 cases with special plate fixation through the axillary approach. The 3 patients complicated with fracture of greater tuberosity were fixated with a special plate through the lateral shoulder split deltoid approach. Constant-Murley score, visual analogue scale (VAS) and Hawkins grading were used at the last follow-up to evaluate shoulder function, pain and stability after operation.Results:All patients were followed up for 9 to 20 months (mean, 14.4 months). The operation time ranged from 55 to 110 min (mean, 76.3 min), intraoperative bleeding from 60 to 160 mL (mean, 103.8 mL), and hospital stay from 8 to 14 d (mean, 11.1 d). All incisions healed primarily and all scapular glenoid fractures got united 6 months after operation. The last follow-up showed no shoulder instability, neurovascular injury or internal fixation failure. At the last follow-up, the range of motion of the shoulder was 159.2°±26.1° in forward bending, 156.7°±29.6° in abduction, 48.3°± 15.3° in external rotation (neutral position), and 73.3°±12.3° in internal rotation (neutral position), and the Constant-Murley score was (94.0±5.3) points. The range of motion of the shoulder and Constant-Murley score were significantly improved compared with those before operation (10.8°±11.6°, 7.5°±11.4°, 5.8°±10.0°, 42.5°±16.0° and 4.9±4.0, respectively) (all P<0.05). The VAS score was 0 in 11 patients and 2 in one patient at the last follow-up. Conclusion:The axillary approach is feasible for the treatment of scapular glenoid fracture, because it is hidden and less invasive, leading to good clinical outcomes.

Objective:To investigate the efficacy of fixation with cannulated screws alone via the Kocher approach in the treatment of adult humeral capitulum fractures.Methods:From August 2016 to August 2020, 16 patients with humeral capitulum fracture were treated at Department of Upper Limb Orthopedics, Zhengzhou Orthopaedic Hospital. They were 10 males and 6 females, aged from 36 to 62 years (average, 45 years). The left side was affected in 10 cases and the right side in 6. According to the Ring classification, 3 cases were type Ⅰ, 3 cases type Ⅱ, 6 cases type Ⅲ, and 4 cases type Ⅳ. All patients were treated with the Kocher approach on the lateral side of the elbow. After reduction under direct vision, the fractures were fixated temporarily with Kirschner wires and finally with cannulated screws. On the second postoperative day, the patients started active flexion and extension of the elbow joint and took indomethacin orally to prevent heterotopic ossification. At the last follow-up, the curative efficacy was evaluated according to the Mayo elbow performance score (MEPS). The flexion and extension of the elbow joint and the rotation of the forearm were also recorded.Results:All patients were followed up for 10 to 19 months (mean, 14.3 months) after surgery. Bony union was achieved after 7 to 12 monthes (average, 11.3 monthes) in all the 16 patients, 2 of whom developed heterotopic ossification. By the MEPS evaluation at the last follow-up, 8 cases were excellent, 6 good and 2 fair, scoring an average of 89.5 points (from 73 to 95 points). At the last follow-up, the elbow flexion ranged from 80° to 130° (averaging 113°), extension from 5° to 30° (averaging 15°), forearm pronation from 62° to 75° (averaging 67°), and forearm supination from 50° to 90° (averaging 75°).Conclusion:When the fracture ends are exposed through the lateral Kocher approach, the fracture fragments fixated with cannulated screws only, and the patients encouraged to start elbow joint exercises in the early stage, the treatment of adult humeral capitulum fractures can result in satisfactory curative effects.

Objective:To identify the pathogenic gene mutations in a Chinese achromatopsia family.Methods:A pedigree investigation was performed.A Chinese Han pedigree from Luoyang city of China was enrolled in Henan Eye Hospital in November 2018.The medical history of the patients was collected.The best corrected visual acuity (BCVA) of the families was examined.The maniafestations of the anterior segment and fundus were obtained via slit lamp biomicroscope and slit lamp lens.The diopter was determined by objective and subjective refraction.Color vision was examined by Farnsworth-Munsell Hue Test.Retinal function was evaluated by international standard electroretinogram (ERG). Retina was observed by color photography, and its structural image was obtained by spectral-domain optical coherence tomography (SD-OCT). The peripheral blood sample was collected from the proband (Ⅲ1) and her younger brother (Ⅲ2) and parents for whole blood DNA extraction, and a whole genome sequencing (WGS) was performed to identify the pathogenic genes and mutation sites, and the sequencing data was compared through disease-related databases such as the Human Genome Databases due to a negative detective result of specific hereditary eye disease enrichment panel based on targeted exome capture technology.Sanger sequencing and bioinformatics analysis was carried out with softwares.The cosegregation analysis was performed.This study protocol was approved by an Ethics Committee of Henan Eye Hospital (No.HNEECKY-2019[15]) and complied with Declaration of Helsinki.Written informed consent was obtained from each subject or the guardian before any medical examination.Results:This family included 2 patients and 8 members with normal phenotypes in 3 generations and showed an autosomal recessive inheritance model.Poor vision and photophobia appeared after birth in both Ⅲ1 and Ⅲ2, and these symptoms did not deteriorate with aging.Pigmentary mottling and atrophic changes could be seen in the retinas of the patients.Reflection bands of external membrane and ellipsoid line in macula of patients were irregular on the OCT image.Color vision examination showed achromatopsia of the patients.ERG indicated that the amplitudes of a-, b-waves of scotopic 0.01, 3.0, 10.0 ERG and oscillatory potentials were slightly reduced, and the amplitudes of a-, b-waves of photopic ERG and wavelets of 30 Hz were seriously reduced in both eyes of Ⅲ1 and Ⅲ2.WGS showed that heterozygous mutations of a novel mutation c. 129+ 1G>A and a known mutation c. 1285dupT of CNGB3 gene in Ⅲ1 and Ⅲ2.The mutations were confirmed by Sanger sequencing.Conclusions:The compound heterozygous mutation in c. 129+ 1G>A/c.1285dupT of CNGB3 gene may be responsible for the achromatopsia pathogenesis in this Chinese Han pedigree.The abnormal phenotype of the patients is the result of both CNGB3 c. 129+ 1G>A and CNGB3 c. 1285dupT mutations simultaneously.

Objective:To analyze the epidemiological and etiological characteristics of sever fever with thrombocytopenia syndrome (SFTS) cases in Henan province during 2017-2020.Methods:Descriptive epidemiology method was used to analyze the characteristics of SFTS cases in Henan during 2017-2020. Patients' sera in acute phase were collected and tested using real-time fluorescence RT-PCR. The S segment complete sequences of the isolated sever fever with thrombocytopenia syndrome virus (SFTSV) strains were amplified and homology analysis was performed to construct the phylogenetic tree.Results:A total of 1 767 SFTS cases, including 1 000 suspected cases and 767 confirmed cases, were reported in Henan during this period, and 11 cases, including 3 suspected cases and 8 confirmed cases died, the case fatality rate was 0.62% (11/1 767). The incidence decreased year by year. The cases were distributed in 28 counties of 6 cities, and 1 681 cases were reported in Xinyang, accounting for 95.13% (1 681/1 767) of the total. The cases mainly occurred from April to October, accounting for 96.10% (1 698/1 767) of the total. The incidence in males (0.38/100 000) was significantly lower than that in females (0.54/100 000) ( χ 2=54.855, P<0.001). Up to 93.44% (1 651/1 767) of the cases were aged between 40 and 84 years. Farmers accounted for 96.10% (1 698/1 767) of the total cases. One family cluster outbreak occurred in 4 years. A total of 1 110 samples were detected by Henan CDC, in which 435 were SFTS virus positive with an average positive rate of 39.19% (435/1 110). The differences in positive rates of SFTS virus among different years were significant ( χ2=25.405, P<0.001). The sequence homology of complete S segment of the 39 SFTS virus strains ranged from 94.76% to 99.82%. The genetic evolution analysis on the complete S segment of the 39 SFTS virus strains showed that 34 strains belonged to genotype A, 2 strains belonged to genotype B, and 3 strains belonged to genotype D. Conclusions:The incidence of SFTS in Henan was sporadic, and decreased year by year. SFTS had obvious regional and seasonal characteristics, and the area affected by SFTS expanded. The incidence of SFTS was high in elderly female farmers, and the positive rate of SFTS virus varied greatly in different years. The main type of SFTS virus in Henan was genotype A, but the etiological surveillance is still needed.

Objective:To investigate the performance of real-time RT-PCR for the detection of SARS-CoV-2 nucleic acid in clinical diagnosis of COVID-19.Methods:Laboratory test data and basic case information of Henan COVID-19 cases were collected from the China′s Infectious Disease Information System as of March 5, 2020. All information was entered by local hospitals and Center for Disease Control and Prevention (CDC). Local hospitals or country CDC were responsible for sampling and municipal CDC was responsible for nucleic acid testing.Results:A total of 6 714 specimens were detected and the positive rate of SARS-CoV-2 nucleic acid was 23.82%. The specimens were collected from 1 200 confirmed cases, 2 178 suspected cases and 77 asymptomatic cases. The nucleic acid diagnosis rate of COVID-19 was 36.96% (1 277/3 455). In all cases, the positive rates of SARS-CoV-2 nucleic acid in nasal swabs, sputum samples and throat swabs were 19.38%, 28.59% and 23.53%, respectively (χ 2=15.896, P<0.01). The positive rate of SARS-CoV-2 nucleic acid in confirmed COVID-19 cases was 63.10%. The positive rates in nasal swabs, sputum samples and throat swabs were 50.80%, 58.71% and 65.21 (χ 2=18.612, P<0.01). The positive rates of SARS-CoV-2 nucleic acid were 43.51%, 23.98%, 22.82%, 12.17%, 14.46% and 13.21% in samples collected on the day of symptom onset and one week, two weeks, three weeks, four weeks, five weeks and above five weeks after the onset, respectively. The positive rates in confirmed cases were respectively 89.03%, 86.57%, 52.30%, 17.53%, 17.69% and 24.14% at those time points. Conclusions:Real-time RT-PCR is the most effective method for early pathogenic diagnosis of COVID-19. The highest detection rate of nucleic acid is achieved within one week after the onset of COVID-19, and the latest time for nucleic acid detection is 38 d after the onset.

Objective:To investigate the etiological characteristics and drug resistance of non-typhoid Salmonella isolated from stool samples of children under 5 years old with diarrhea in Henan Province. Methods:Intestinal bacteria were isolated from fecal samples of 4 250 diarrhea children under five years old in five monitoring sites in Henan Province from 2015 to 2018. Serotypes and drug sensitivity of Salmonella strains were analyzed. The annual change in drug resistance was analyzed by Chi-square test and all data were analyzed retrospectively. Results:The detection rate of non-typhoid Salmonella in fecal samples was 8.73% (371/4 250). The highest detection rate was in the 0-1 age group (51.75%) and the peak season for Salmonella infection was from May to October. The most common serotype was Salmonella enteritidis (36.93%), followed by 4, 5, 12: i: - Salmonella (14.82%) and Salmonella typhimurium (14.02%). The non-typhoid Salmonella isolates were resistant to ampicillin and sulfamethoxazole with drug resistance rates of more than 80%, but more sensitive to ceftazidime, cefepime and cefoxitin. There were significant differences in drug resistance to cefepime, levofloxacin, ciprofloxacin, amikacin, doxycycline, chloramphenicol and compound neoforman among the strains isolated in different years ( P<0.05). Multidrug-resistant strains accounted for 86.52%. Conclusions:There was diversity in the serotypes of non-typhoid Salmonella in diarrheal children under five years old in Henan Province. The predominant serotype was Salmonella enteritidis. Drug resistance to common antibiotics was detected in the isolates, and most of them were multidrug-resistant.

Objective:To identify the pathogenic gene mutations in a family with Leber congenital amaurosis (LCA).Methods:In October 2018, 1 patient and 3 normal family members from a LCA family was enrolled in this retrospective study. Detailed medical history of proband was obtained and fixation test, cycloplegic refraction, slit-lamp, fundus color photography and full-field ERG were performed. And other family members underwent BCVA, refraction slit-lamp, fundus biomicroscopy with the slit lamp, fundus color photography and full-field ERG. The family was investigated with a specific hereditary eye disease enrichment panel which contained 441 known pathogenic genes and based on targeted exome capture technology first to indentify the potential pathogenic genes and mutations. Then the potential pathogenic mutations were conformed by Sanger sequencing. Finally, the results were analyzed via bioinformatics analysis.Results:The proband showed no trace object from childhood, but had obvious photophobia and nystagmus. No positive changes were found in the anterior segment, vitreous and retina in both eyes. Both cone and rod system function decreased significantly in full-field ERG in both eyes. Gene tests showed the proband carried both RPGRIP1 c.1635dupA and c.3565C> T, which composited a heterozygous mutation. Bioinformatics analysis showed RPGRIP1 c.1635dupA was a pathogenic mutation, and RPGRIP1 c.3565C> T which was a novel potential pathogenic mutation in LCA.Conclusion:The compound heterozygous mutation, c.1635dupA and c.3565C> T in RPGRIP1 may be responsible for the pathogenesis in this Chinese Han LCA pedigree.

Objective: To investigate the effect of Toll-like receptor 9 (TLR9) on high glucose-induced retinal ganglion cells-5 (RGC-5) apoptosis and the inhibitory effects of small interfering RNA-TLR9 (si-TLR9) on apoptosis. Methods: RGC-5 cells were divided into normal control group, high glucose group, high glucose+ negative control group and high glucose+ si-TLR9 group which cells were respectively dealt with normal culture medium, high glucose medium, transfection of non-specific siRNA under high glucose and transfection of siRNA-TLR9 under high glucose.The expression of TLR9 mRNA was detected by real time PCR; the survival rate of the cells was evaluated by MTT assay; the apoptotic rate of the cells was detected by flow cytometry; the caspase-3 activity in the cells was detected by related kit, and the expressions of TLR9, B cell lymphoma (bcl-2), bcl-2 associated X protein (bax), p38 mitogen-activated protein kinases (p38MAPK) and phosphorylated (p)-p38MAPK proteins were detected by Western blot. Results: The expressions of TLR9 mRNA and protein in the high glucose+ si-TLR9 group were significantly decreased in comparison with the high glucose+ negative control group (both at P<0.05). The cell survival rate of the high glucose group and high glucose+ negative control group was (78.36±5.13)% and (75.12±4.25)%, respectively, which was significantly lower than (95.48±7.25)% in the normal control group, and that in the high glucose+ si-TLR9 group was (86.58±5.32)%, which was significantly reduced in comparison with the high glucose+ negative control group (all at P<0.05). The apoptotic rate of the cells in the high glucose group and high glucose+ negative control group was (13.23±1.22)% and (12.52±1.38)%, respectively, which was significantly higher than (2.26±0.15)% of the normal control group, and apoptotic rate in the high glucose+ si-TLR9 group was (7.15±0.24)%, which was significantly lower than that in high glucose+ negative control group (all at P<0.05). The expression of bax in the cells of the high glucose+ si-TLR9 group was significantly decreased, and the expression of bcl-2 in the cells of the high glucose+ si-TLR9 group was significantly increased in comparison with the high glucose+ negative control group (both at P<0.05). Caspase-3 activity in the cells was significantly decreased in the high glucose+ si-TLR9 group compared with the high glucose+ negative control group (P<0.05). The relative expression of p-p38MAPK in the cells was significantly decreased in the high glucose+ si-TLR9 group compared with the high glucose+ negative control group (P<0.05). Conclusions Down-regulation of TLR9 expression in the RGC-5 cells can inhibit the apoptosis induced by high glucose probablely by suppressing p38MAPK signaling pathway.