Gorham-Stout disease(GSD) is a rare osteolytic disorder characterized by spontaneous and progressive osteolysis, along with abnormal angiogenesis and lymphangiogenesis, with no new bone formation. We present a case of a 15-year-old female admitted due to " recurrent right leg pain for 5 years, 11 months after undergoing right femoral fracture surgery". Through comprehensive integration of the patient's clinical phenotype, laboratory tests, imaging findings, pathological examinations, and molecular biological test results, GSD was considered highly likely. A multidisciplinary treatment approach was conducted, including a combination of zoledronic acid and sirolimus to inhibit osteolysis, along with rehabilitation training and orthopedic intervention, providing a personalized and comprehensive treatment strategy.

Background: Advances in intensive care have markedly improved survival after severe brain injury, leading to a growing population of patients with prolonged disorders of consciousness (pDOC). Current management of pDOC remains largely supportive, and evidence-based neuromodulatory interventions are limited; moreover, existing guidelines provide insufficiently explicit recommendations regarding mechanisms of action and objective biomarkers of treatment response. Transcutaneous auricular vagus nerve stimulation (taVNS) has emerged as a potential noninvasive intervention; however, its modulatory effects on brain function in pDOC are not yet well characterized, and the paucity of integrative mechanistic evidence has constrained its translation into routine clinical practice. Objectives: Within a multimodal assessment framework, this study aims to systematically elucidate the neurobiological mechanisms by which taVNS modulates brain function and autonomic activity in patients with pDOC, and to evaluate its clinical potential to enhance levels of consciousness. Methods: In this randomized controlled trial, 60 patients with vegetative state/minimally conscious state will be enrolled and randomly allocated to a taVNS group, a transcutaneous nonauricular vagus nerve stimulation group (sham), or a control group (n = 20 per group) for a 4-week intervention. The primary outcome will be changes in the Coma Recovery Scale-Revised scores from baseline to weeks 1, 2, and 4 of treatment. Secondary outcomes will include functional brain activity assessed by electroencephalography and functional near-infrared spectroscopy, as well as autonomic modulation indexed by heart rate variability. Functional prognosis will be evaluated using the Glasgow Outcome Scale-Extended at the end of treatment and at a 6-month follow-up. Safety will be assessed by continuous monitoring and documentation of adverse events throughout the study period. Results and discussion: By integrating electroencephalography–functional near-infrared spectroscopy with heart rate variability, this study will characterize the effects of taVNS on functional brain networks and consciousness recovery in pDOC across complementary behavioral, electrophysiological, hemodynamic, and autonomic domains, while interrogating potential sources of clinical and neurobiological heterogeneity. The findings are expected to provide a mechanistic and evidence-based foundation for the mechanism-driven clinical implementation of taVNS and the optimization of stimulation protocols in pDOC. Clinical trial registration: International Traditional Medicine Clinical Trial Registry, ITMCTR20250021041, https://itmctr.ccebtcm.org.cn.

Objective: To improve the efficiency of patient treatment in routine, emergency, and mass casualty scenarios (both peacetime and wartime), eliminate reliance on blood type compatibility, and promote the productization of platelet-rich plasma (PRP), this study investigated the optimal mixing ratio for developing a universal PRP formulation. Methods: PRP was prepared from donors with blood types O, A, B, and AB. Samples were mixed in varying proportions, and the optimal ratio was determined based on the trend of anti-A and anti-B antibody titers in the mixed PRP. Concentrations of the growth factors PDGF-AA, PDGF-BB, EGF, TGF-β1, and VEGF were measured by enzyme-linked immunosorbent assay (ELISA) before and after mixing. Results: A mixing ratio of A∶B∶AB=6∶2.5∶24 resulted in no detectable agglutination with either A or B cells in the microcolumn gel system, indicating the absence of immunological reactivity and confirming universal compatibility. Importantly, the levels of all measured growth factors remained unchanged following mixing, suggesting preservation of biological activity. Conclusion: These findings suggest that universal PRP can be prepared by neutralizing blood type antibodies through antigen-antibody reactions.

Objective To distinguish Cremastra appendiculata(D.Don)Makino,Pleione yunnanensis Rolfe and Pleione bulbocodioides,and its easily confusing products Oreorchis patens and Iphigenia indica Kunth using the ITS sequence in DNA barcodes;To explore the genetic diversity of Cremastra appendiculata germplasm resources.Methods Three different original Cremastra appendiculata,Pleione yunnanensis Rolfe and Pleione bulbocodioides,and their easily confusing products Cremastrae Pseudobulbus of Oreorchis patens and Iphigenia indica Kunth were selected as the research objects,and the genomic DNA of the above samples were extracted by the modified CTAB method,and then the ITS sequences were amplified,sequenced and spliced by PCR technology.The Kimura 2-Parameter(K2P)model was used to calculate the genetic distance,and the phylogenetic tree was constructed with the help of neighbour joining method(NJ)for genetic relationship analysis.Results Except for the Iphigenia indica Kunth species that were not found during the BLAST search,the BLAST comparison results of the other samples were higher than 95%.At the same time,the results of phylogenetic tree showed that Cremastra appendiculata,Pleione yunnanensis Rolfe and Pleione bulbocodioides were clustered into one branch,respectively,and the easily confusing products were also respectively clustered into one branch.Conclusion The ITS sequence in DNA barcodes can be used to accurately distinguish Cremastra appendiculata,Pleione yunnanensis Rolfe and Pleione bulbocodioides,and its easily confusing products Oreorchis patens and Iphigenia indica Kunth.

Objective:To study the clinical and pathological features, immunophenotypes, molecular genetics characteristics, differential diagnosis, and prognostic factors of pulmonary and tracheal glomus tumors.Method:Eight cases of pulmonary and tracheal glomus tumors were collected in Jiangsu Provincial Hospital (including 1 consultation, from Gaochun People's Hospital, Nanjing, China) between May 2015 and April 2023, and their clinical and imaging data, pathological morphology, and immunohistochemical characteristics were retrospectively analyzed. Gene testing and follow-up were performed.Result:There were 5 males and 3 females with onset ages ranging from 29 to 75 years old, median age 63.5 years. Among the patients, 5 cases were located in the trachea and 3 cases in the lungs. Under light microscopy, 5 cases were benign glomus tumors with clear boundaries, diffuse sheet or nest-like distribution, small, round or short spindle-shaped tumor cells, rounded and centered nuclei, and no obvious nuclear mitosis was seen. Two cases of glomus tumor of uncertain malignant potential showed an infiltrative growth pattern involving smooth muscle, nerves and blood vessels with necrosis and calcification, the tumor cells were more uniform in size, round or short spindle-shaped nuclei, and no obvious nuclear mitosis was seen; One case of malignant glomus tumor was seen in sarcomatous areas, lung membrane invasion and necrosis, the tumor cells were highly heterogeneous, binucleated and multinucleated, with nuclear mitoses of 20/50 high power field (HPF), and pathologic nuclear mitoses were easy to be seen. Immunohistochemically, SMA, Calponin, H-caldesmon, Vimentin and Collagen Ⅳ were all positive (8/8). Some cases expressed Syn (3/8) and Bcl-2 (4/8). The Ki-67 proliferation index was 1-2% (7/8) and 40% (1/8). BRAF V600E were detected as wild-type (8/8), and no mutations were detected in exons 2, 3, and 4 of KRAS human EML4- ALK fusion gene were negative in 5 surgical cases. Case 6 showed HMBOX1- ALK gene fusion, TERT gene mutation and CDKN2A gene deletion, and case 8 showed CARMN- NOTCH2 gene fusion. Seven cases were followed up (8-103 months, median follow-up time 30 months), 1 case was lost, 1 case recurred 21 months after surgery, and others with no evidence of recurrence or metastasis. Conclusions:Pulmonary and tracheal glomus tumors are very rare and need to be differentiated from other common tumors by combining pathological morphology and immunohistochemistry. Maybe there are some differences in the malignant diagnostic criteria and molecular genetic characteristics between visceral derived glomus tumors and soft tissue derived tumors of the same kind, such as limbs and skin. More data accumulation is needed.

Primary ciliary dyskinesia (PCD) is a clinically rare, genetically and phenotypically heterogeneous condition characterized by chronic respiratory tract infections, male infertility, tympanitis, and laterality abnormalities. PCD is typically resulted from variants in genes encoding assembly or structural proteins that are indispensable for the movement of motile cilia. Here, we identified a novel nonsense mutation, c.466G>T, in cilia- and flagella-associated protein 300 ( CFAP300 ) resulting in a stop codon (p.Glu156*) through whole-exome sequencing (WES). The proband had a PCD phenotype with laterality defects and immotile sperm flagella displaying a combined loss of the inner dynein arm (IDA) and outer dynein arm (ODA). Bioinformatic programs predicted that the mutation is deleterious. Successful pregnancy was achieved through intracytoplasmic sperm injection (ICSI). Our results expand the spectrum of CFAP300 variants in PCD and provide reproductive guidance for infertile couples suffering from PCD caused by them.
Adult ; Female ; Humans ; Male ; Pregnancy ; China ; Ciliary Motility Disorders/genetics* ; Codon, Nonsense ; East Asian People/genetics* ; Exome Sequencing ; Homozygote ; Infertility, Male/genetics* ; Kartagener Syndrome/genetics* ; Pedigree ; Sperm Injections, Intracytoplasmic ; Cytoskeletal Proteins/genetics*

Objective:To analyze the genetic mutation characteristics of the first reported case of DNA ligase Ⅳ syndrome primarily presenting as eczematous dermatitis and purpura in China.Methods:Clinical data were collected from a child with DNA ligase Ⅳ syndrome, and whole-exome sequencing was performed to identify genetic mutations.Results:The patient presented with generalized eczematous dermatitis and purpura, accompanied by pancytopenia, growth retardation, and immunodeficiency. Genetic testing revealed compound heterozygous mutations at three sites in the DNA ligase Ⅳ gene, namely c.467C>T (p.A156V) , c.833G>T (p.R278L) , and c.1271-c.1275del (p.K424fs*20) , among which c.467C>T (p.A156V) had not been previously reported.Conclusion:Children with DNA ligase Ⅳ syndrome may present with eczematous dermatitis and purpura, and compound heterozygous mutations in the DNA ligase Ⅳ gene may represent the genetic cause of this condition.

Although the COVID-19 pandemic has subsided, the risk of the outbreak of new emerging infectious diseases remained constantly present. As such an outbreak can have devastating consequences to the society and economy, development of warning strategies before it takes place is a critical and urgent research task. However, there are currently no validated methods that are both effective and practically feasible for giving pre-outbreak alerts. As such, timely identification and rapid response after an outbreak takes place is still a feasible and effective method for responding to new emerging infectious diseases. The speed and efficiency of the response are largely contingent upon preparedness during the inter-epidemic periods. This paper aims to outline our thinking about the framework for infectious disease early warning and propose some recommendations. Implementation of such a strategy in practice necessitates the establishment of pilot initiatives to test the early warning system according to our proposed principles. These pilots may use severe influenza or hypothetical outbreak scenarios as examples, define warning signals, develop the mechanisms for epidemiological investigation, reporting and response so as to conduct feasibility assessments.

Objective:To evaluate the feasibility of a novel flexible ultrasound imaging catheter for high-resolution real-time imaging of deep abdominal structures via percutaneous intervention.Methods:A self-developed flexible ultrasound catheter system（outer diameter：3.3 mm，integrated with a 10.5 MHz high-frequency linear array transducer and 4-degree-of-freedom active deflection）was used to image abdominal organs（liver，gallbladder，pancreas，etc.）in two healthy beagles via percutaneous puncture，with comparison to conventional surface convex array probes（3.6 MHz）. Image quality was assessed using a double-blind design，independently scored by five ultrasound physicians with over 10 years of experience on a 6-point scale. Mixed-effects ordinal logistic regression（adjusted for dog，organ，and evaluator variability）was employed for inter-group comparisons，with effect sizes quantified by Cliff's delta. Characteristic anatomical structure detection rates were analyzed using generalized linear mixed models（Firth correction for zero events）. Inter-rater reliability was assessed via intraclass correlation coefficient（ICC，two-way random model）and Kendall's coefficient of concordance.Results:The flexible catheter group demonstrated significantly superior image quality compared to the surface probe group . The most pronounced improvement was observed in adrenal imaging（5 points vs. 1 point， P<0.001，δ=0.92），while pancreatic imaging showed no significant difference（2 points vs. 2 points， P=0.812，δ=0.05）. Other organs exhibited significant quality enhancements（all P<0.05，δ=0.63～0.81）. The catheter significantly improved detection rates of characteristic structures：gastric wall stratification（90% vs. 10%， OR=36.0， P<0.001），adrenal corticomedullary differentiation（80% vs. 0， OR=∞， P<0.001），and gallbladder/small intestinal wall trilaminar structure（80% vs. 20%， OR=12.0， P=0.003）. The high-quality image rate（≥5 points）reached 77.8%，representing an 11.6-fold improvement over surface ultrasound（6.7%， P<0.001）. Inter-rater reliability was excellent（ICC=0.85，W=0.79）. Conclusions:Percutaneous flexible ultrasound catheter imaging significantly enhances resolution and anatomical detail visualization of deep abdominal structures. Combining minimally invasive access with operational flexibility，this technology shows promise for providing precise image guidance in minimally invasive procedures.

Objective To analyze the risk factors for delayed hemorrhage in patients with early gastric carcinoma(EGC)after endoscopic submucosal dissection(ESD),as well as to explore the predictive value of predictive models.Methods The clinical data of 386 EGC treated with ESD patients from July 2019 to March 2024 were retrospectively analyzed.They were followed up for a short period of time(24 h～30 d postoperatively)after ESD,and were divided into the group of occurrence(50 cases)and the group of non-occurrence(336 cases)according to the occurrence or non-occurrence of delayed hemorrhage.To understand the clinical data of the patients,multivariate Logistic regression was used to analyze the risk factors for delayed hemorrhage in patients with EGC after ESD,and plot receiver operating characteristic curve(ROC curve)to analyze the predicted value.Results The proportions of cardia gastric fundus,lesion diameter ≥ 3 cm,submucosa with fibrosis,coarse blood vessels,and having ulcer or scar in the occurrence group were significantly higher than those in the non-occurrence group,the differences were statistically significant(P＜0.05).The results of multivariate Logistic regression analysis(with an introduction level of 0.05)showed that the lesion location was cardia-gastric fundus(OR=1.088,95％CI:1.040～1.138),the diameter of the lesion was ≥3 cm(OR=1.095,95％CI:1.057～1.135),and fibrosis under the mucosa(OR=1.130,95％CI:1.061～1.203),thick blood vessels under the mucosa(OR=1.177,95％CI:1.116～1.241),and the presence of ulcer or scar(OR=1.082,95％CI:1.057～1.108)were the risk factors for the occurrence of delayed hemorrhage in patients with EGC after ESD(P＜0.05).A prediction model was established:Logit(P)=-9.238+Location of lesion as cardia-gastric fundus × 0.084+Diameter of lesion ≥ 3 cm× 0.091+Submucosal with fibrosis × 0.122+Submucosal with thick blood vessels × 0.163+Ulcer or scar×0.079(P＜0.05),the likelihood ratio test yielded x2=131.09,DF=8,P＜0.05,which indicated that the constructed prediction model was valid.Hosmer-Lemeshow goodness-of-fit test showed a good model fit(P＞0.05).The ROC curve showed an area under the curve(AUC)value of 0.929 at a cutoff value of 12.00,with a sensitivity of 88.00％(95％CI:0.757～0.955)and a specificity of 83.04％(95％CI:0.780～0.869).Conclusion Postoperative delayed hemorrhage in patients with EGC treated with ESD is associated with cardia-gastric fundus,lesion diameter ≥3 cm,submucosal fibrosis,thick blood vessels,and the presence of ulcer or scar,and the prediction value of the prediction model constructed accordingly is good.