Duchenne muscular dystrophy (DMD) is a severe X-linked recessive genetic disorder caused by mutations in the DMD gene, making it one of the most common forms of hereditary muscular dystrophy. The DMD gene, which encodes dystrophin, is the largest known gene in the human genome. Mutations in the DMD gene are highly diverse, including exon deletions, duplications, point mutations, and small insertions or deletions, posing significant challenges for treatment. Currently, there is no cure for DMD, and existing treatment strategies focus primarily on symptom management, which cannot reverse or halt disease progression. Advances in biotechnology position nucleic acid drugs and gene therapies at the forefront of DMD treatment research. These treatments aim to restore dystrophin expression by repairing or replacing mutated genes, thereby improving muscle function or slowing muscle degeneration. Preclinical studies in animal models and early-phase clinical trials demonstrate promising efficacy and offer new hope for DMD patients. This review briefly outlines the pathological mechanisms and genetic characteristics of DMD before delving into recent progress in therapeutic strategies, with a particular focus on nucleic acid drugs (including antisense oligonucleotides for exon skipping therapy and translation readthrough inducers) and gene therapy approaches (including gene replacement therapy and gene editing). The development and application of these therapies not only provide new treatment options for DMD patients, but also offer valuable insights for addressing other genetic disorders. However, numerous challenges impede the clinical translation of DMD treatments. Future studies must optimize existing therapeutic strategies, improve their efficacy and applicability, and explore innovative approaches to deliver more effective and sustainable treatments for DMD patients.

Objective:We aimed to develop a novel visualized model based on nomogram to predict postoperative overall survival.Methods:This was a multicenter, retrospective, observational cohort study, including participants with histologically confirmed gastric and colorectal cancer who underwent radical surgery from 11 medical centers in China from August 1, 2015 to June 30, 2018. Baseline characteristics, histopathological data and nutritional status, as assessed using Nutrition Risk Screening 2002 (NRS 2002) score and the scored Patient-Generated Subjective Global Assessment, were collected. The least absolute shrinkage and selection operator regression and Cox regression were used to identify variables to be included in the predictive model. Internal and external validations were performed.Results:There were 681 and 127 patients in the training and validation cohorts, respectively. A total of 188 deaths were observed over a median follow-up period of 59 (range: 58 to 60) months. Two independent predictors of NRS 2002 and Tumor-Node-Metastasis (TNM) stage were identified and incorporated into the prediction nomogram model together with the factor of age. The model's concordance index for 1-, 3- and 5-year overall survival was 0.696, 0.724, and 0.738 in the training cohort and 0.801, 0.812, and 0.793 in the validation cohort, respectively.Conclusions:In this study, a new nomogram prediction model based on NRS 2002 score was developed and validated for predicting the overall postoperative survival of patients with gastric colorectal cancer. This model has good differentiation, calibration and clinical practicability in predicting the long-term survival rate of patients with gastrointestinal cancer after radical surgery.

Objective To study transaction log and apply its analysis to hospital information security to prevent data loss and treat abnormal data.Methods The application of transaction log was described in log backup and database recovery,and the optration of log analysis was explored in HIS.Sqlplus and Ftp tools in Oracle were used to analyze the transaction log.Results The tracking and analysis of the log files contributed to making clear the incident,finding program bug,getting back lost data.Conclusion Log backup,database recovery and log analysis were of great importance for hospital information security,and log analysis has to be emphasized on in the future.

OBJECTIVETo assess the pathologic markers for evaluation of reversibility in pulmonary hypertension (PAH) related to congenital heart disease.

METHODSTwenty-eight patients with congenital heart disease complicated by PAH were subclassified into reversible pulmonary hypertension (RPAH) and irreversible pulmonary hypertension (IPAH), according to post-operative mean pulmonary artery pressure (MPAP). Pulmonary vascular lesion was analyzed according to Ruan's method. Mean medium thickness percent, mean medium area percent and pulmonary arteriolar density were measured by quantitative morphometry. Immunohistochemical study for transgelin and filamin A was carried out.

RESULTSAmongst the 28 cases studied, 24 were RPAH and 4 were IPAH. Of the 24 patients with RPAH, 13 (54.2%, 13/24) had pulmonary vascular lesion of grade 0, 9 (37.5%, 9/24) of grade 1 and 2 (8.3%, 2/24) of grade 2. Of the 4 patients with IPAH, 1 had lesion of grade 1, 1 of grade 2 and 2 of grade 3. Both preoperative and postoperative MPAP were higher in IPAH patients than that in RPAH patients[(53.3±23.4) mmHg versus (34.1±12.7) mmHg, P=0.020 and (35.0±8.8) mmHg versus (17.8±3.9) mmHg, P<0.01]. Compared to patients with pulmonary vascular lesion of grades 0 and 1, the preoperative MPAP in patients with grades 2 and 3 showed no significant difference, but the postoperative MPAP was higher (P<0.05 or 0.01). Compared to control group, mean medium thickness percent and mean medium area percent were significantly higher in RPAH and IPAH categories (12.0±3.5, 8.5±2.0 versus 5.7±1.0, P<0.01 and 55.8±11.1, 49.0±9.4 versus 34.0±5.5, P<0.01). Mean medium thickness percent was significantly higher in IPAP group than that in RPAH group (12.0±3.5 versus 8.5±2.0, P=0.001). Correlation analysis demonstrated that mean medium thickness percent and mean medium area percent had positive correlation with preoperative and postoperative MPAP. There was no correlation between grading of pulmonary vascular lesion and reversibility. Transgelin and filamin A had stronger staining in pulmonary vascular smooth muscle cells in IPAH than those in RPAH and controls(P<0.05).

CONCLUSIONSPathologic assessment of lung biopsy remains the gold standard for evaluation of the reversibility in PAH related to congenital heart disease. Mean medium thickness percent, mean medium area percent and immunoreactivity for transgelin and filamin A are useful parameters.

Biomarkers ; metabolism ; Biopsy ; Filamins ; metabolism ; Heart Diseases ; complications ; pathology ; Humans ; Hypertension, Pulmonary ; complications ; diagnosis ; pathology ; Lung ; pathology ; Microfilament Proteins ; metabolism ; Muscle Proteins ; metabolism

A brief introduction to the development milestones of postgraduate medical education in the world, highlighting the present details of such systems in the United States, United Kingdom, France, Germany and some Asian countries.It is held that common patterns can be identified despite the gaps found in such systems of these countries.In view of the training management system cornmonalities of thecountries,the authors proposed the development directions of residency training in China to enhance thehands-on capability and competence of clinical doctors in a standardized manner.

BACKGROUND:Cone-beam computed tomography has been widely applied in the dentistry due to irreplaceable advantages. Among those advantages, linear measurement is one of the important ones. Further studies are suggest to explore the accuracy and repeatability of linear measurement for the whole skul , as wel as the effect of different resolution and scanning thickness on the linear measurement results.
OBJECTIVE:To evaluate the accuracy of linear measurement using cone-beam computed tomography (Newtom VG) on the human skul , with two different voxel sizes.
METHODS:In this study, 22 anatomic landmarks in four dry human skul s were marked and 11 linear measurements were obtained. These were considered to be the gold standard (real measurement). The skul s were scanned by cone-beam computed tomography (Newtom VG) at two voxel sizes:0.3 mm and 0.15 mm. Linear measurement was performed in axial and coronal planes. SPSS software version 17 was used for data analysis between radiographic measurement and real measurement.
RESULTS AND CONCLUSION:The mean differences of real and radiographic measurements were-0.27 to 0.14 in four different sections, and statistical analysis showed no significant difference between linear measurements and gold standard (P>0.05). There was no significant between two different voxel sizes (P>0.05). Cone-beam computed tomography (Newtom VG) is highly accurate and reproducible in linear measurements in the axial and coronal planes. A cone-beam computed tomography scan with a larger voxel size (0.3 mm) is recommended, resulting in lower radiation dose and faster scan time.

Objective To investigate the influential factors on congenital gastrointestinal malformation and to provide evidences for prevention.Methods A hospital-based case-control study was conducted among infants with or without congenital gastrointestinal malformation at Children's hospital of Hunan province,from April 2011 to August 2012.Parents of 120 cases with congenital gastrointestinal malformation and another 170 controls were asked to fill in a questionnaire.Data was analyzed using SPSS 18.0 software.Results Congenital gastrointestinal malformation was associated with intakes of maternal medication (OR=3.35,95％CI:1.51-7.41) and folic acid (OR=0.28,95％CI:0.15-0.52),exposure to paints (OR=5.05,95％CI:1.32-19.29) and pesticides (OR=15.20,95％CI:1.55-148.99) prior to or during pregnancy,and also associated with medication intake of the father (OR=3.70,95％CI:1.13-12.10),smoking (OR=2.39,95％CI:1.24-4.62),drinking alcohol (OR=2.47,95％CI:1.20-5.07),exposure to the agents for indoor cleaning (OR=16.42,95％ CI:1.71-157.92) and exposure to paints (OR=9.92,95％ CI:2.66-36.98) before conception.Conclusion Congenital gastrointestinal malformation was affected by multiple factors.Potential risk factors for congenital gastrointestinal malformation would include intakes of medication by the pregnant mother,exposure to paints exposure and pesticide exposure before or during pregnancy,and medication intake by the father,smoking,drinking alcohol,exposure to indoor cleaning agents/paint before conception.The amount of folic acid intake by mother before or during pregnancy was likely to reduce the risk for congenital gastrointestinal malformation.

The hypoxanthine-guanine phosphoribosyl transferase (HGPRT) gene mutation is responsible for gouty arthritis, kidney stone, and Lesch-Nyhan Syndrome (LNS). It has been reported that the expression of HGPRT is decreased or even absent in these diseases. Rabbits are an ideal model for studying the pathology of these diseases. Therefore, the development of an HGPRT-knockdown rabbit model will be highly beneficial m such studies. Stable HGPRT-knoekdown transgenie fibroblast lines were generated by transfecting rabbit fibroblasts with RNA interference (RNAi) plasmids. Polymerase chain reaction (PCR) analyses indicated that the average positive rate was 83.3%. The mRNA and protein levels of HGPRT in the transgenic fibroblast lines were significantly lower than that in the control. Transgenic rabbit blastocysts were derived after performing nuclear transfer. The results show that RNAi can be used to stably knock down expression of the HGPRT in rabbit fibroblasts and further improvements in related technologies will facilitate the use of this method for the generation of HGPRT-knockdown rabbits.

Objective To investigate the effects of Tat-NBD(NEMO-binding domain,NBD)peptide on LPS-stimulated AR42J acinus cells inflammatory response.Method Lipopolysaccharide(LPS)was added to culture media at doses of 10 mg/kg for 24 hours to stimulate the AR42J cells.For pretreatment.cells were incubated with different peptides for 2 hours before LPS stimulation.The expression of TNF-α mRNA WaS conducted using a semi-quantitative RT-PCR method.TNF-α protein in culture medium were detected by enzyme linked immunosorbent assay(ELISA).The expression and translocation of the NF-kB-p65 protein of AR42J was determined by Strept Actividin-Biotin Complex(SABC)method.Results LPS(10 mg/L)resulted in an increase of TNF-αmRNA and TNF-αprotein,whereas significant inhibitory effects were observed when cells were incubated with Tat-NBD(WT)just on dose of 0.1 me/L(P＜0.05).The Tat-NBD(WT)peptide decreased inflammatory cytokine expression by a dose-dependent manner and its peak role was on dose of 100 mg/L.Consisting with TNF-α expression decrease,NF-kB-p65 expression signitieantly decreased in Tat-NBD(WT)pretreatment group,especially on the largest dose.NO significant changes in the control peptide group.Conclusions Tat-NBD(WT)peptide can inhibit the inflammation of acinus simulated by LPS.

Embryonic stem cell is promising for regenerative medicine. However, its application is hampered by the utilization of eggs in most established methods. Recently, a new pluripotent stem cell establishing method was reported that, mouse and human differentiated cells could be induced reprogrammed into a pluripotent state by expressing exogenetic stem factors such as Oct4, Sox2, et al, through retroviral transduction. This approach avoiding egg use is a great breakthrough not only in stem cell technology but also present theory hypothesis of reprogramming. Here these works were reviewed in this article. Both the mechanism of induced reprogramming and the prospects of induced pluripotent stem cells were discussed.
Animals ; Cell Differentiation ; genetics ; Cells, Cultured ; Cellular Reprogramming ; drug effects ; genetics ; Humans ; Octamer Transcription Factor-3 ; metabolism ; Pluripotent Stem Cells ; cytology ; Retroviridae ; genetics ; SOXB1 Transcription Factors ; metabolism ; Transduction, Genetic