Objective:To explore the genetic etiology and clinical phenotype of Feingold syndrome due to chromosome 2p24.3p24.2 microdeletion.Methods:The clinical data of a child admitted to Henan Provincial People′s Hospital in November 2021 and diagnosed as Feingold syndrome type 1 (FGLDS1) associated with chromosome 2p24.3p24.2 microdeletion were collected. The clinical and genetic variation characteristics of the patient were summarized, and 10 patients with chromosome 2p microdeletion reported until November 2022 were reviewed.Results:The boy was 12 years and 5 months old. He presented with backward physical development, motor development retardation, low intelligence, special body and facial appearance, finger developmental deformity and other manifestations, accompanied by hyperactivity and aggressive behavior, impulsive irritability, self-injury and other behavior problems. The proband showed normal chromosome karyotype; the genome-wide copy number variant sequencing and trio-whole exome sequencing revealed a 2.61 Mb deletion at chromosome 2p24.3p24.2 region, and 10 genes including MYCN gene (exons 1 to 3) in the deleted region.The same deletion was not found in either of his parents. The genetic features of 11 cases (including this case) with chromosome 2p microdeletion were summarized, all of whom had insufficient haploid dosage of the MYCN gene due to chromosome 2p microdeletion, and the clinical manifestations of these 11 patients matched the clinical diagnosis of FGLDS1. Conclusion:The proband is consistent with the clinical presentation of the typical Feingold syndrome, and the haploinsufficiency of the MYCN gene due to the microdeletion of chromosome 2 is the genetic etiology of the proband.

Objective:To compare the clinical efficacy of arthroscopic partial and complete repair for massive rotator cuff tears.Methods:A total of 32 patients who underwent arthroscopic partial repair of massive rotator cuff tears in the Department of Sports Medicine, Peking University Third Hospital from March 2016 to December 2019 were retrospectively analyzed, including 15 males and 17 females, aged 62±6.8 years (range, 51-77 years), with 5 cases on the left side and 27 cases on the right side. Cause of injury: 4 cases were injured by car accident, 8 were injured by fall, and 20 had no obvious cause. 32 patients who underwent arthroscopic complete repair of massive rotator cuff tears during the same period were included according to a sample size of 1∶1 matched based on age, sex, tear size and fat infiltration index. Clinical outcomes were evaluated using the visual analogue scale (VAS) for pain, American Shoulder and Elbow Surgeons (ASES) score, University of California Los Angeles (UCLA) shoulder score, Simple Shoulder Test (SST) score, and range of motion. Fatty infiltration and cuff healing were assessed using the Goutallier and Sugaya classifications on MRI, respectively.Results:All patients successfully completed the surgery and were followed up for 46.1±11.3 months (range, 36-72 months). Preoperative and final follow-up VAS scores were 6.6±1.8 and 1.6±1.1 in the complete repair group, and 6.4±1.9 and 1.4±1.3 in the partial repair group. Both groups showed significant postoperative improvement ( P<0.05), with no significant difference between groups at the final follow-up ( t=-0.729, P=0.468). The ASES score, UCLA shoulder score, and SST at the final follow-up were 81.7±6.5, 28.6±2.9, and 9.8±2.5, respectively, in the complete repair group, and 82.4±7.3, 28.1±2.6, and 9.1±1.9 in the partial repair group, and the difference between the groups was not statistically significant ( P>0.05). In the complete repair group, one case underwent reverse shoulder replacement for rotator cuff re-tear two years after surgery, and one case developed pseudoparalysis for rotator cuff re-tear 8 months after surgery but had no significant pain and did not receive further treatment; in the partial repair group, two cases underwent tendon transposition surgery for shoulder pain. Conclusion:Arthroscopic partial repair improves shoulder function and reduces pain in patients with massive rotator cuff tears, with similar efficacy to complete repair and has high surgical safety.

It is difficult to treat severe burn combined injury caused by high voltage. This paper reports the successful treatment of a patient with large cranial area third degree burn, skull exposure, local skull carbonization combined with cerebrospinal fluid leakage caused by ten thousand volts high voltage current. Vacuum sealing drainage was given to protect the wounds from infection after multiple limited debridement in the early stage. The external of the inactivated skull was cleaned in the later stage. Finally, the bilateral anterolateral thigh flap combined with multiple burr holes was used to repair the wound. There were no severe postoperative complications, and the therapeutic effect was satisfactory.

It is difficult to treat severe burn combined injury caused by high voltage. This paper reports the successful treatment of a patient with third degree burn of extra large cranial area, skull exposure, local skull carbonization combined with cerebrospinal fluid leakage caused by ten thousand volts high voltage current. Vacuum sealing drainage was given to protect the wounds from infection after multiple limited debridement in the early stage. The external plate of the inactivated skull was cleaned in the later stage. Finally, the bilateral anterolateral thigh flap combined with multiple burr holes was used to repair the wound. There were no severe postoperative complications, and the therapeutic effect was satisfactory.

It is difficult to treat severe burn combined injury caused by high voltage. This paper reports the successful treatment of a patient with large cranial area third degree burn, skull exposure, local skull carbonization combined with cerebrospinal fluid leakage caused by ten thousand volts high voltage current. Vacuum sealing drainage was given to protect the wounds from infection after multiple limited debridement in the early stage. The external of the inactivated skull was cleaned in the later stage. Finally, the bilateral anterolateral thigh flap combined with multiple burr holes was used to repair the wound. There were no severe postoperative complications, and the therapeutic effect was satisfactory.

It is difficult to treat severe burn combined injury caused by high voltage. This paper reports the successful treatment of a patient with third degree burn of extra large cranial area, skull exposure, local skull carbonization combined with cerebrospinal fluid leakage caused by ten thousand volts high voltage current. Vacuum sealing drainage was given to protect the wounds from infection after multiple limited debridement in the early stage. The external plate of the inactivated skull was cleaned in the later stage. Finally, the bilateral anterolateral thigh flap combined with multiple burr holes was used to repair the wound. There were no severe postoperative complications, and the therapeutic effect was satisfactory.

Objective:To study the effect of ZhuJing pill variant formula medicated serum on hydrogen peroxide (H 2O 2)-induced epithelial-mesenchymal transition (EMT) of human retinal pigment epithelial (ARPE-19) cells and its mechanism. Methods:Thirty female SPF grade SD rats aged 2 months old were selected.The rats were randomized into blank control group and Zhujing pill variant formula group according to random number table method, with 15 in each group, which were intragastrically administered with normal saline and ZhuJing pill variant formula solution for 7 days accordingly to prepare blank control serum and medicated serum.ZhuJing pill variant formula medicated serum was prepared with SD rats.ARPE-19 cells were divided into normal control group, model control group, blank serum group as well as 2.5%, 5.0% and 10.0% medicated serum groups, SB216763 group and SB216763+ medicated serum group.Normal and blank control groups were cultured in normal culture medium, while the other six groups were cultured in blank rat serum medium, medicated serum medium of corresponding concentration, 10 μmol/L SB216763 medium and 10 μmol/L SB216763+ 10.0% medicated serum medium, respectively.Normal control group was routinely cultured, while the other groups were routinely cultured for 24 hours, and then added with H 2O 2 with the final concentration of 200 μmol/L for 24 hours.Cell viability was assessed by cell counting kit-8 (CCK-8) assay, and cell migration ability was detected by Transwell assay.Intracellular reactive oxygen species (ROS) level was detected by dichloro-dihydro-fluorescein diacetate (DCFH-DA) assay, and MDA level was identified by sulfhydryl barbituric acid assay.The expression levels of Nrf2 pathway related proteins including nuclear factor erythroid 2-related factor 2 (Nrf2), heme oxygenase-1 (HO-1), quinone oxidoreductase 1 (NQO-1) and EMT-related proteins including transforming growth factor-β2 (TGF-β2), protein kinase B (AKT), glycogen synthase kinase-3β (GSK-3β), snail family zinc finger 1 (SNAIL1), α-smooth muscle actin (α-SMA), epithelial cadherin (E-cadherin) in cells were measured by western blot assay.The use and care of animals complied with Regulations for the Administration of Affairs Concerning Experimental Animals. Results:There was no significant difference in cell survival rate among blank serum group, 2.5%, 5.0% and 10.0% medicated serum groups ( F=0.163, P>0.05). The cell survival rates were (100.50±5.91)%, (60.87±4.30)%, (73.27±4.46)%, (80.73±5.67)% and (89.90±4.97)% in normal control group, model control group, 2.5%, 5.0% and 10.0% medicated serum groups, and the number of migrating cells was (84.67±8.33), (222.33±13.58), (215.67±10.02), (174.67±10.60), (143.67±8.02) and (107.67±6.66) pcs/visual field in normal control group, model control group, blank serum group, 2.5%, 5.0% and 10.0% medicated serum groups, respectively, with significant differences among the groups ( F=26.628, 99.289; both at P<0.01). The contents of ROS and MDA in model control group were significantly increased in comparison with normal control group (both at P<0.01). The contents of ROS and MDA of 2.5%, 5.0% and 10.0% medicated serum groups were significantly decreased in comparison with model control group (all at P<0.01). The relative expression levels of SNAIL1, α-SMA, TGF-β2, p-AKT and p-GSK-3β proteins were significantly higher and the relative expression level of E-cadherin protein was significantly lower in model control group compared with normal control group, 2.5%, 5.0% and 10.0% medicated serum groups (all at P<0.05). Compared with normal control group, the relative expression level of cytoplasmic Nrf2 in model control group was decreased, while the relative expression levels of nuclear Nrf2, HO-1 and NQO-1 were increased, and the differences were statistically significant (all at P<0.05). Compared with model control group, the relative expression levels of cytoplasmic Nrf2 in 2.5%, 5.0% and 10.0% medicated serum groups were reduced, and the relative expression levels of nuclear Nrf2, HO-1 and NQO-1 were enhanced, and the differences were statistically significant (all at P<0.01). Compared with model control group, the relative expression level of cytoplasmic Nrf2 in SB216763 group was decreased, and the relative expression level of nuclear Nrf2 was increased, and the differences were statistically significant (both at P<0.05). Compared with SB216763 group, the relative expression levels of cytoplasmic Nrf2, SNAIL1 and α-SMA in SB216763+ medicated serum group were decreased, and the relative expression levels of nuclear Nrf2 and E-cadherin protein were increased, and the differences were statistically significant (both at P<0.05). Conclusions:ZhuJing pill variant formula medicated serum can inhibit H 2O 2-induced EMT in ARPE-19 cells.The mechanism may be related to the inhibition of AKT/GSK-3β pathway and the activation of Nrf2 signaling pathway.

The limited knowledge of genomic diversity and functional genes associated with the traits of soybean varieties has resulted in slow progress in breeding.In this study,we sequenced the genomes of 250 soybean landraces and cultivars from China,America,and Europe,and inves-tigated their population structure,genetic diversity and architecture,and the selective sweep regions of these accessions.Five novel agronomically important genes were identified,and the effects of functional mutations in respective genes were examined.The candidate genes GSTT1,GL3,and GSTL3 associated with the isoflavone content,CKX3 associated with yield traits,and CYP85A2 associated with both architecture and yield traits were found.The phenotype-gene network analysis revealed that hub nodes play a crucial role in complex phenotypic associations.This study describes novel agronomic trait-associated genes and a complex genetic network,providing a valuable resource for future soybean molecular breeding.

Objective: To investigate the epidemiologic features of respiratory viral etiology in hospitalized children with acute respiratory tract infection (ARTI) in Shijiazhuang. Methods: A total of 28 512 cases of hospitalized children with clinical diagnosis of ARTI in Children′ s Hospital of Hebei Province from 2014 to 2017 were recruited into this study. One nasopharyngeal swab was collected from each patient. Immunofluorescence assay was used to detect seven kinds of respiratory viruses, including respiratory syncytial virus (RSV), parainfluenza virus (PIV) type 1-3, influenza virus type A, B (FluA, FluB) and adenovirus (ADV). Results: At least one viral pathogen was identified in each of 9 263 out of 28 512 patients and the overall positive rate was 32.5%. Of 9 263 virus-positive patients, 9 070 (97.9%) had mono-infection. The most frequently detected virus was RSV, followed by PIV-3 and FluA. The positive rates of RSV and PIV-1 showed annually decreasing tendency, meanwhile the positive rate of FluA increased in the nearly two years. The detection rate of ADV and PIV-1 increased every other year. There was a significant difference in the positive rate among different years (P<0.05). The overall positive rate decreased along with the age increased (linear by linear association χ²=1191.289, P<0.05). The detection rates of RSV and PIV-3 were the highest in groups of <1 year old and 1-3 years old and decreased along with the age increased. The preschool children were more susceptible to developing FluA, FluB and ADV related diseases. There was a significant difference in the positive rate among different age groups (P<0.05). The viral distribution was uneven in different seasons, and the infection peaked in winter, the difference was statistically significant (P<0.05). The epidemic seasons of RSV and FluA were winter, and FluB infection was epidemic in winter and spring. The positive rates of PIV-1 and PIV-2 were most common in summer and autumn. PIV-3 was usually prevalent in spring and summer and ADV was prevalent sporadically. Conclusions RSV is the most common pathogen in hospitalized children with clinical diagnosis of ARTI during 2014-2017 and the positive rate of which showed an annually decreasing tendency. The positive rate of FluA increased in the nearly two years. Children in infancy are susceptible to the seven common respiratory viruses and winter is the epidemic season for these viruses.

Objective To investigate the changes of regional homogeneity ( ReHo) in Parkinson's disease (PD) patients with depression and their relationship with major depressive disorder.Methods A total of 42 PD patients without depression , 20 PD patients with depression, 20 major depressive disorder patients and 47 well-matched healthy controls were scanned with resting-state functional magnetic resonance imaging for ReHo analysis.The Hamilton Depression Scale (HAMD), Unified Parkinson's Disease Rating Scale (UPDRS-Ⅲ) and Hoehn-Yahr stage were used to assess the clinical symptoms , then the correlations between abnormal brain regions and clinical data were explored.Results ( 1 ) The main effect of Parkinson's disease: PD group showed higher ReHo in left ventrolateral prefrontal cortex and right precuneus, but lower ReHo in bilateral supplementary motor area and left angular gyrus.(2) The main effect of depression: The depression group had increased ReHo in bilateral cerebellum , and decreased ReHo in bilateral precentral gyrus , postcentral gyrus , left inferior frontal gyrus, left posterior cingulate gyrus , left supplementary motor area , right dorsolateral prefrontal cortex , right inferior parietal gyrus and right calcarine.(3) Interactive effect of PD and depression : Interactive brain areas included bilateral middle frontal gyrus, left inferior frontal cortex and supramarginal gyrus.(4) The ReHo of the brain regions under main effect of depression including right dorsolateral prefrontal cortex (r＝-0.526, P＜0.01) and right inferior parietal gyrus ( r＝-0.456, P＜0.01) had significant negative correlation with HAMD scores. Conclusion PD patients with depression have abnormal brain function , and PD with depression is not simply an overlay of PD and major depressive disorder.