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:To investigate the role of dietary fiber in the intestinal rehabilitation for patients with ultra-short bowel syndrome.Methods:This study included 34 inpatients diagnosed with ultra-short bowel syndrome in the General Surgery Department of the Eastern Theater General Hospital of the People's Liberation Army from January 2012 to October 2023. Patients were grouped based on whether they received intestinal rehabilitation and whether dietary fiber was added to the treatment plan, and were divided into three groups: nutritional therapy group (11 cases), growth hormone + glutamine intestinal rehabilitation treatment group (10 cases) and growth hormone injection + glutamine + dietary fiber intestinal rehabilitation treatment group (13 cases). The therapeutic regimen and its changes, pre- and post-treatment parameters of hematology, nutrition, intestinal absorption, fecal consistency, and quality of life were recorded and compared, and the impact of different treatment regimens on clinical outcomes was analyzed.Results:Compared with nutrition treatment group and growth hormone + glutamine intestinal rehabilitation treatment group, growth hormone injection + glutamine + dietary fiber intestinal rehabilitation treatment group, the increase of enteral nutritional fluid, the decrease of parenteral nutritional energy, the increase of intestinal moisture absorption, the decrease of defecation times and the appreciation of hemoglobin were significantly increased, and the difference was statistically significant ( P<0.05). At the same time, the levels of insulin-like growth factor 1 and insulin-like growth factor binding protein were significantly increased after treatment ( P<0.01). Conclusions:Nutritional support combined with intestinal rehabilitation can significantly improve the nutritional status and intestinal absorption rate of ultra-short bowel syndrome patients. The use of dietary fiber in the intestinal rehabilitation regimen for ultra-short bowel syndrome patients yields more significant benefits, as evidenced by improved clinical outcomes.

ObjectiveTo systematically review the effect of rhythmic auditory stimulation on gait of patients with cerebral palsy. MethodsRelevant literature on gait improvement of patient with cerebral palsy by rhythmic auditory stimulation were retrieved from Web of Science, PubMed, EBSCO, CNKI and Wanfang database from establishment to December, 2022. Physiotherapy Evidence Database (PEDro) scale was used to evaluate the methodological quality of the articles, and the relevant data was extracted. A systematic review was conducted. ResultsA total of 1 339 literatures were retrieved, and ten were finally included. The patients mainly came from America, Egypt, Israel, South Korea and Greece. The intervention sites were mainly in hospitals and communities, and some patients received home-based intervention. The publication date was mainly after 2010. Adding rhythmic auditory stimulation on the basis of conventional rehabilitation training increased the range of motion of the joints of patients with cerebral palsy; improved the walking speed, step length and stride length; improved the movement mode, and enhanced the intervention effect of gait training. ConclusionRhythmic auditory stimulation is effective on the range of motion, walking speed, step length and stride length of patient with spastic cerebral palsy, which can improve gait.

Objective:To investigate the effects of blood glucose target management combined with early hemoperfusion on inflammatory reaction and stress in patients with hyperlipidemic acute pancreatitis (HL-AP).Methods:A prospective cohort study was used. One hundred and fifty-nine patients with HL-AP from September 2019 to September 2022 in Zhoukou Central Hospital Affiliated to Xinxiang Medical University were selected. The patients were divided into group A, B and C by random number table method with 53 cases in each group. All patients were given routine treatment. On this basis, the patients in group A were given blood glucose target management, the patients in group B were given early hemoperfusion, and the patients in group C were given blood glucose target management combined with early hemoperfusion. Before treatment and 7 d after treatment, the inflammatory factors (including interleukin-10, IL-10; interleukin-18, IL-18; tumor necrosis factor-α, TNF-α; soluble intercellular adhesion molecule-1, sICAM-1; procalcitonin, PCT; high mobility group protein B1, HMGB1; nuclear factor-κB p65, NF-κB p65), stress indexes (including lipid hydrogen peroxide, LHP; advanced protein oxidation products, AOPPs; catalase, CAT; glutathione peroxidase, GSH-Px; epinephrine, E and cortisol), intestinal mucosal barrier indexes (including D-lactate; diamine oxidase, DAO; endotoxin) and hemorheological indexes (including platelet adhesion rate, plasma specific viscosity, whole blood specific viscosity high shear and thrombus length) were detected. The recovery indexes (urinary amylase recovery time, bowel sound recovery time, exhaust recovery time, abdominal pain relief time and hospitalization time), adverse reactions and curative effect were recorded.Results:There were no statistical differences in the detection indexes before treatment among three groups ( P>0.05). Seven days after treatment, the IL-10, CAT and GSH-Px in group C were significantly higher than those in group A and group B. The IL-18, NF-κB p65, TNF-α, sICAM-1, PCT, HMGB1, LHP, AOPPs, E, cortisol, D-lactic acid, DAO and endotoxin were significantly lower than those in group A and group B with statistical differences ( P<0.05), but no statistical differences in the indexes between group A and group B ( P>0.05). Seven days after treatment, the platelet adhesion rate, plasma specific viscosity, whole blood specific viscosity high shear and thrombus length in group C were significantly lower than those in group A and group B, while the indexes in group B were significantly lower than those in group A, with statistical differences ( P<0.05). The urinary amylase recovery time, bowel sound recovery time, exhaust recovery time, abdominal pain relief time and hospitalization time in group C were significantly shorter than those in group A and group B: (5.73 ± 0.64) d vs. (7.49 ± 0.89) and (7.26 ± 0.85) d, (2.45 ± 0.31) d vs. (5.76 ± 0.73) and (5.83 ± 0.79) d, (2.69 ± 0.42) d vs. (6.04 ± 0.81) and (6.07 ± 0.82) d, (1.87 ± 0.29) d vs. (3.58 ± 0.45) and (3.65 ± 0.46) d, (15.24 ± 1.76) d vs. (18.61 ± 2.29) and (18.78 ± 2.34) d, with statistical differences ( P<0.05), but no statistical differences in the indexes between group A and group B ( P>0.05). The total effective rate in group C was significantly higher than that in group A and group B: 90.57% (48/53) vs. 67.92% (36/53) and 60.38% (32/53), with statistical difference ( P<0.05), but no statistical difference in the total effective rate between group A and group B ( P>0.05). There was no statistical difference in the incidence of adverse reactions among three groups ( P>0.05). Conclusions:The blood glucose target management combined with early hemoperfusion in the treatment of HL-AP can effectively reduce inflammatory reaction and stress state, protect intestinal mucosal barrier function, improve blood rheology, and promote recovery.

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 investigate the morphological changes of whole brain gray matter in patients with postherpetic neuralgia(PHN),and evaluate the correlation between morphological changes of whole brain gray matter,visual analogue scale (VAS) and duration of PHN.Methods By using VBM-DARTEL method,firstly the 3D T1WI structure images of 17 patients with PHN and 17 normal control were preprocessed,then the segmented gray matter volume was compared between the two groups, and the correlation between difference of cerebral gray matter volume,VAS and duration of PHN were analyzed.Results Compared with the normal control, gray matter decrease in PHN group was found in bilateral orbital frontal regions(orbital gyrus,rectus gyri),left inferior frontal gyrus,left insular lobe, left caudate, right cingulate gyrus,left superior temporal gyrus, left cuneus, bilateral cerebellum posterior lobe and bilateral cerebellum anterior lobe.And gray matter increase in PHN group was found in bilateral superior frontal gyri, left middle frontal gyrus, vermis, pons.The gyrus volume change for two hemispheres was asymmetric (the left side greater than the right side).These different brain region changes in gray matter volume for patients with PHN were not correlated with VAS and duration of PHN.

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