OBJECTIVE: To summarize the clinical and genetic characteristics of children with Silver-Russell syndrome (SRS) and improve the recognition of this disease. METHODS: A retrospective analysis was conducted on the clinical manifestations and genetic testing results of 29 children with SRS diagnosed at the Children's Hospital Affiliated to Zhengzhou University between March 2016 and June 2025. RESULTS: The 29 children had included 18 boys and 11 girls, with the age ranging from 2 months to 16 years. Their primary clinical manifestations included postnatal growth retardation (100%), small for gestational age (SGA) (100%), characteristic facial features (90%), limb asymmetry (83%), feeding difficulties (76%), ulnar deviation of the fifth finger (69%), body mass index (BMI) of < -2 SD (62%), and abnormal bone age (55%), including 15 cases with delayed bone age for an average of 1.5 years and 1 case with advanced bone age for 2.5 years. Additional manifestations included abnormal sexual development in 11 cases (38%), dental malocclusion in 11 cases (38%), allergic diseases in 10 cases (34%), cardiac diseases in 9 cases (31%), skeletal abnormalities in 7 cases (24%), renal hypoplasia in 5 cases (17%), and abnormal cranial MRI findings in 5 cases (17%). Twenty children were treated with recombinant human growth hormone (rhGH) at a dose of 0.1 ~ 0.15 U/(kg.d). Among them, 7 cases achieved annual height increase of ≥ 10 cm, 11 cases achieved annual height increase of ≥ 5 ~ 9 cm, and 2 cases achieved annual height increase < 5 cm. Twenty three children exhibited hypomethylation of imprinted genes in the chromosome region of 11p15, 4 presented maternal uniparental disomy of chromosome 7 [UPD(7)mat], and 2 had harbored nonsense variants of the HMGA2 gene. CONCLUSION SRS patients may present with diverse clinical manifestations including postnatal growth retardation, SGA, characteristic facial features, limb asymmetry, feeding difficulties, and ulnar deviation of the fifth finger. Most patients may exhibit abnormal methylation in the 11p15 region. rhGH therapy can improve the height of these patients.
Humans ; Silver-Russell Syndrome/diagnosis* ; Male ; Female ; Child ; Child, Preschool ; Infant ; Adolescent ; Retrospective Studies

Objective To explore the feasibility and reference value of allogeneic lung transplantation and postoperative monitoring in miniature pigs for lung transplantation research. Methods Two miniature pigs (R1 and R2) underwent left lung allogeneic transplantation. Complement-dependent cytotoxicity tests and blood cross-matching were performed before surgery. The main operative times and partial pressure of arterial oxygen (PaO₂) after opening the pulmonary artery were recorded during surgery. Postoperatively, routine blood tests, biochemical blood indicators and inflammatory factors were detected, and pathological examinations of multiple organs were conducted. Results The complement-dependent cytotoxicity test showed that the survival rate of lymphocytes between donors and recipients was 42.5%-47.3%, and no agglutination reaction occurred in the cross-matching. The first warm ischemia times of D1 and D2 were 17 min and 10 min, respectively, and the cold ischemia times were 246 min and 216 min, respectively. Ultimately, R1 and R2 survived for 1.5 h and 104 h, respectively. Postoperatively, in R1, albumin (ALB) and globulin (GLB) decreased, and alanine aminotransferase increased; in R2, ALB, GLB and aspartate aminotransferase all increased. Urea nitrogen and serum creatinine increased in both recipients. Pathological results showed that in R1, the transplanted lung had partial consolidation with inflammatory cell infiltration, and multiple organs were congested and damaged. In R2, the transplanted lung had severe necrosis with fibrosis, and multiple organs had mild to moderate damage. The expression levels of interleukin-1β and interleukin-6 increased in the transplanted lungs. Conclusions The allogeneic lung transplantation model in miniature pigs may systematically evaluate immunological compatibility, intraoperative function and postoperative organ damage. The data obtained may provide technical references for subsequent lung transplantation research.

The high-quality development of new quality productivity and internal audit constitutes a significant theoretical and practical innovation under the background of the new era,jointly forming the key impetus for the sustainable development of public hospitals.Based on the connotation and characteristics of the new quality productivity and the high-quality development of internal audit,it expounds the internal logic of the two-way driving,analyzes the realistic challenges faced by the high-quality develop-ment of internal audit.Moreover,specific implementation paths are proposed from the aspects of policy guidance,service supply,resource allocation,talent cultivation,and data intelligence linkage.

Lung transplantation is the ultimate therapeutic option for end-stage pulmonary diseases such as interstitial pneumonia, chronic obstructive pulmonary disease and pneumoconiosis. Currently, the shortage of allogeneic lung donors significantly limits the opportunity for end-stage lung disease patients to receive lung transplantation. In recent years, with the rapid development of biomedical engineering technologies, especially the major breakthroughs in genetic modification and cloning, xenogeneic lung transplantation has shown important potential for clinical translation. Among them, genetically modified pigs have become the most promising xenogeneic lung source due to the close similarity of organ size and physiological characteristics to humans, and the ability to perform targeted gene knockouts (such as α-Gal antigen knockout) to reduce the occurrence of hyperacute rejection. This article focuses on the research progress of porcine xenogeneic lung transplantation, systematically reviews the latest achievements and challenges in animal experiments and human trials, and introduces the technical experience accumulated by Shenzhen Third People's Hospital in the porcine-to-monkey xenogeneic lung transplantation model, in the hope of providing practical references for future research in this field.

The high-quality development of new quality productivity and internal audit constitutes a significant theoretical and practical innovation under the background of the new era,jointly forming the key impetus for the sustainable development of public hospitals.Based on the connotation and characteristics of the new quality productivity and the high-quality development of internal audit,it expounds the internal logic of the two-way driving,analyzes the realistic challenges faced by the high-quality develop-ment of internal audit.Moreover,specific implementation paths are proposed from the aspects of policy guidance,service supply,resource allocation,talent cultivation,and data intelligence linkage.

Objective To investigate the serum levels of miR-665 and miR-144 in the elderly pa-tients with chronic heart failure(CHF)and their relationship with cardiac function.Methods A total of 120 elderly CHF patients who were diagnosed and treated in our hospital from March 2021 to March 2023 were collected and then divided into NYHA grade Ⅱ(n=39),Ⅲ(n=51)and Ⅳ(n=30)subgroups according to the results of NYHA classification.Another 120 elderly healthy volunteers during the same period were recruited as the control group.Clinical data and cardiac function indicators were collected,and the expression levels of miR-665 and miR-144 in se-rum were detected.Pearson correlation analysis was applied to analyze the relationship of miR-665 and miR-144 levels with cardiac function indicators.Results The CHF group had significantly de-creased LVEF,increased left ventricular end-diastolic diameter(LVEDD)and left ventricular end-systolic diameter(LVESD),and elevated serum levels of miR-665 and miR-144 than the control group(P＜0.01).Sequentially reduced LVEF and raised LVEDD and LVESD values and serum miR-665 and miR-144 levels were observed in the patients with NYHA grades Ⅱ,Ⅲ,and Ⅳ in turn(P＜0.01).Pearson correlation analysis showed that there was a positive correlation of the serum level of miR-665 with that of miR-144 in CHF patients(r=0.693,P=0.000),of the miR-665 and miR-144 levels with LVEDD(r=0.485,r=0.507,P＜0.01)and LVESD(r=0.539,r=0.494,P＜0.01),and a negative correlation of the serum levels with LVEF(r=-0.577,r=-0.591,P＜0.01).Conclusion The serum levels of miR-665 and miR-144 are elevated in elderly CHF patients,and are closely associated with their cardiac function.

Objective:To discuss the protective effect of gingerone on the hippocampal neuron HT22 cells after oxygen-glucose deprivation/reoxygenation(OGD/R),and to clarify the related mechanism.Methods:The HT22 cells were cultured,and the OGD/R cell injury model was established by setting the gradient of OGD/R time.The HT22 cells were divided into control group,OGD/R group,OGD/R+ 1 μmol·L-1 gingerone group,OGD/R + 10 μmol·L-1 gingerone group,OGD/R+100 μmol·L-1 gingerone group,and OGD/R+0.2%dimethyl sulfoxide(DMSO)group.The viability of the cells in various groups was detected by CCK-8 assay;the survival rates of the cells in various groups were calculated to determine the optimal drug concentration of gingerone.The cells were divided into control,OGD/R group,OGD/R+ gingerone,and OGD/R+gingerone+nuclear factor erythroid-2-related factor 2(Nrf2)inhibitor(ML385)groups.The cells in OGD/R + gingerone group were treated with gingerone for 4 h before OGD treatment for 8 h followed by reoxygenation for 8 h,and the cells in OGD/R+gingerone+ ML385 group were treated with 10 μmol·L-1 ML385 for 6 h before gingerone treatment.The viability of the cells in various groups was detected by CCK-8 assay;the expression levels of Nrf2,heme oxygenase-1(HO-1),B-cell lymphoma-2(Bcl-2),and Bcl-2-associated X protein(Bax)proteins in the cells in various groups were detected by Western blotting method;the activity of superoxide dismutase(SOD)and the level of malondialdehyde(MDA)in the cell culture supernatant in various groups were detected by enzyme-linked immunosorbent assay(ELISA)method.Results:Compared with control group,the survival rate of the HT22 cells was below 50%after treated with OGD for 8 h and reoxygenation for 8 h,so the HT22 cell OGD/R model was established by treated with OGD for 8 h and reoxygenation for 8 h.Compared with OGD/R group,the survival rates of the cells in OGD/R+different doses of gingerone groups were increased to various extents,and the survival rate of the cells in OGD/R+ 100 μmol·L-1 gingerone group was significantly increased(P<0.01);so 100 μmol·L-1 gingerone was used for the subsequent experiment.Compared with control group,the viability of the cells in OGD/R group was significantly decreased(P<0.01),and the expression levels of Nrf2,HO-1,and Bax proteins in the cells were significantly increased(P<0.01),while the expression level of Bcl-2 protein in the cells was significantly decreased(P<0.05),and the SOD activity in the cell culture supernatant was significantly decreased(P<0.01),and the level of MDA was significantly increased(P<0.01);compared with OGD/R group,the viability of the cells in OGD/R + gingerone group was significantly increased(P<0.01),and the expression levels of Nrf2,HO-1,and Bcl-2 proteins in the cells were significantly increased(P<0.05 or P<0.01),while the expression level of Bax protein in the cells was decreased(P<0.05),the SOD activity in the cell culture supernatant was significantly increased(P<0.01),and the level of MDA was significantly decreased(P<0.01);compared with OGD/R + gingerone group,the viability of the cells in OGD/R + gingerone + ML385 group was significantly decreased(P<0.01),and the expression levels of Nrf2,HO-1,and Bcl-2 proteins were significantly decreased(P<0.01),while the expression level of Bax protein in the cells was significantly increased(P<0.01),the SOD activity in the cell culture supernatant was significantly decreased(P<0.01),and the level of MDA was significantly increased(P<0.05).Conclusion:Gingerone alleviates the oxidative stress damage,and thereby plays an inhibiory effect on the apoptosis of the HT22 neurons by activating the Nrf2/HO-1 signaling pathway after OGD/R.

Non-rigid registration plays an important role in medical image analysis. U-Net has been proven to be a hot research topic in medical image analysis and is widely used in medical image registration. However, existing registration models based on U-Net and its variants lack sufficient learning ability when dealing with complex deformations, and do not fully utilize multi-scale contextual information, resulting insufficient registration accuracy. To address this issue, a non-rigid registration algorithm for X-ray images based on deformable convolution and multi-scale feature focusing module was proposed. First, it used residual deformable convolution to replace the standard convolution of the original U-Net to enhance the expression ability of registration network for image geometric deformations. Then, stride convolution was used to replace the pooling operation of the downsampling operation to alleviate feature loss caused by continuous pooling. In addition, a multi-scale feature focusing module was introduced to the bridging layer in the encoding and decoding structure to improve the network model's ability of integrating global contextual information. Theoretical analysis and experimental results both showed that the proposed registration algorithm could focus on multi-scale contextual information, handle medical images with complex deformations, and improve the registration accuracy. It is suitable for non-rigid registration of chest X-ray images.
Algorithms ; Learning ; Thorax

Sleep deprivation (SD) has a profound impact on the central nervous system, resulting in an array of mood disorders, including depression and anxiety. Despite this, the dynamic alterations in neuronal activity during sleep deprivation have not been extensively investigated. While some researchers propose that sleep deprivation diminishes neuronal activity, thereby leading to depression. Others argue that short-term sleep deprivation enhances neuronal activity and dendritic spine density, potentially yielding antidepressant effects. In this study, a two-photon microscope was utilized to examine the calcium transients of anterior cingulate cortex (ACC) neurons in awake SD mice in vivo at 24-hour intervals. It was observed that SD reduced the frequency and amplitude of Ca2+ transients while increasing the proportions of inactive neurons. Following the cessation of sleep deprivation, neuronal calcium transients demonstrated a gradual recovery. Moreover, whole-cell patch-clamp recordings revealed a significant decrease in the frequency of spontaneous excitatory post-synaptic current (sEPSC) after SD. The investigation also assessed several oxidative stress parameters, finding that sleep deprivation substantially elevated the level of malondialdehyde (MDA), while simultaneously decreasing the expression of Nuclear Factor erythroid 2-Related Factor 2 (Nrf2) and activities of Superoxide dismutase (SOD) in the ACC. Importantly, the administration of gallic acid (GA) notably mitigated the decline of calcium transients in ACC neurons. GA was also shown to alleviate oxidative stress in the brain and improve cognitive impairment caused by sleep deprivation. These findings indicate that the calcium transients of ACC neurons experience a continuous decline during sleep deprivation, a process that is reversible. GA may serve as a potential candidate agent for the prevention and treatment of cognitive impairment induced by sleep deprivation.

Objective To investigate the correlation between the residual cholesterol(RC)level and vertebrobasilar dilatation(VBD)in elderly patients with acute cerebral infarction(ACI).Methods A total of 325 elderly ACI patients admitted to Department of Neurology,Changzhou Second People's Hospital of Nanjing Medical University from January 2020 to July 2021 were recruited retrospectively.All of them underwent cranial MRI,CTA and biochemical test for plasma levels of TC,TG,LDL-C and HDL-C and other biochemical indicators.According to the imaging diagnostic criteria,they were divided into VBD group(52 cases)and non-VBD group(273 cases).Their clini-cal data were compared between the two groups,and the relationship between RC level and VBD was analyzed in the elderly ACI patients.Results Significant differences were observed in age,sex,hypertension,history of smoking and TC and RC levels between the VBD group and non-VBD group(P＜0.05,P＜0.01).Multivariate logistic regression analysis showed that after adjus-ting the potential confounding factors,age(OR=1.126,95％CI:1.065-1.191,P=0.000),male(OR=4.163,95％CI:11.173-10.120,P=0.002),and RC level(OR=1.270,95％CI:1.151-1.401,P=0.000)were independent risk factors for VBD in elderly ACI patients.Conclusion Age,male and RC level are independent risk factors for VBD in elderly ACI patients.High RC lev-el may increase the risk of VBD.