Objective: To explore the clinical characteristics and diagnosis and treatment plans of neurofibromatosis type 1 (NF1), and to provide references for clinical diagnosis and treatment. Methods : The clinical manifestations and treatment of an 8-year-old female patient with NF1 was reported. A literature review was conducted to summarize the clinical characteristics and therapeutic strategies of NF1. Multiple NF1s occurred on the right cheek, orbit, and eyelid, and recurred after surgical resection. The tumor caused ptosis, incomplete closure, and vision loss in the upper eyelid of the right eye. After a multidisciplinary assessment determined that radical resection was not feasible, selumetinib sulfate targeted therapy was adopted (25 mg, Po, bid), 28 days constitute one treatment course, and 14 courses have been completed, combined with symptomatic ocular treatments, such as Befusu. Result: The follow-up showed that the tumor volume did not continue to increase (stable disease), the uncorrected vision of the right eye improved (0.05 vs 0.1), and no drug-related adverse reactions occurred during the treatment period. The literature review summarizes the diverse clinical manifestations of NF1, with café-au-lait macules, multiple neurofibromas, and Lisch nodules being hallmark features. Currently, surgical intervention remains the most commonly employed and primary therapeutic approach for NF1; however, for patients who do not meet the criteria for surgery, alternative treatment strategies should be considered. MEK inhibitors, such as selumetinib, demonstrate significant efficacy in inhibiting the growth of NF1-associated plexiform neurofibromas, with tumor volume reductions of at least 20% observed in 70% of pediatric patients in the SPRINT clinical trial. Furthermore, these inhibitors exhibit favorable long-term safety profiles. Conclusion Café-au-lait macules, multiple neurofibromas, and Lisch nodules are hallmark features of NF1. Selumetinib is safe and effective for NF1 in the head and neck of children, and it is the preferred treatment option for patients who are not suitable for surgery. Long-term follow-up monitoring of tumor changes and drug safety is required.

Metachromatic leukodystrophy (MLD) is an inherited disease caused by a deficiency of the enzyme arylsulfatase A (ARSA). Lentivirus-modified autologous hematopoietic stem cell gene therapy (HSCGT) has recently been approved for clinical use in pre and early symptomatic children with MLD to increase ARSA activity. Unfortunately, this advanced therapy is not available for most patients with MLD who have progressed to more advanced symptomatic stages at diagnosis. Patients with late-onset juvenile MLD typically present with a slower neurological progression of symptoms and represent a significant burden to the economy and healthcare system, whereas those with early onset infantile MLD die within a few years of symptom onset. We conducted a pilot study to determine the safety and benefit of HSCGT in patients with postsymptomatic juvenile MLD and report preliminary results. The safety profile of HSCGT was favorable in this long-term follow-up over 9 years. The most common adverse events (AEs) within 2 months of HSCGT were related to busulfan conditioning, and all AEs resolved. No HSCGT-related AEs and no evidence of distorted hematopoietic differentiation during long-term follow-up for up to 9.6 years. Importantly, to date, patients have maintained remarkably improved ARSA activity with a stable disease state, including increased Functional Independence Measure (FIM) score and decreased magnetic resonance imaging (MRI) lesion score. This long-term follow-up pilot study suggests that HSCGT is safe and provides clinical benefit to patients with postsymptomatic juvenile MLD.
Humans ; Leukodystrophy, Metachromatic/genetics* ; Pilot Projects ; Genetic Therapy/methods* ; Hematopoietic Stem Cell Transplantation ; Male ; Follow-Up Studies ; Female ; Lentivirus/genetics* ; Child ; Child, Preschool ; Hematopoietic Stem Cells/metabolism* ; Cerebroside-Sulfatase/metabolism* ; Adolescent

The accumulation of uremic toxins such as urea nitrogen, blood creatinine, and uric acid of patients with renal failure in vivo would lead to aggravated kidney damage. In this study, coated aldehyde oxy-starch (CAO) was used as an adsorbent to investigate its in vitro adsorption performance on renal failure indexes for urea, indoxyl sulfate (INS), monomethylamine (MMA), dimethylamine (DMA), uric acid (UA), and creatinine (Cr). The effects of variables such as pH, temperature, concentration, dosage, and time on the adsorption capacity of CAO were systematically investigated, employing analytical techniques of high-performance liquid chromatography (HPLC) and gas chromatography (GC). The results revealed that CAO exhibited a strong adsorption capacity for urea, INS, and MMA, alongside a moderate adsorption capacity for DMA, UA, and Cr. The adsorption kinetics and thermodynamic studies indicated that the adsorption of urea and UA by CAO were fitted in pseudo-first-order kinetics, and the adsorption isotherm aligned with the Freundlich adsorption model. The enthalpy change ΔH of urea in adsorption was in the range of 40 to 60 kJ·mol^-1, which demonstrated the presence of strong adsorption force due to the interactions of coordinating groups. The ΔH of UA was greater than 80 kJ·mol^-1, indicating the generation of chemical bonds during the adsorption. Both of them, Gibbs free energy ΔG was less than 0, within the range of -20 to 0 kJ·mol^-1, suggested that the adsorption of urea and UA by CAO occurred spontaneously as physical adsorption process. The adsorption entropy ΔS of urea and UA was > 0, which indicated an increase in entropy throughout the adsorption. The infrared spectroscopygram showed the formation of a chemical bond, specifically the imine bond, following the adsorption of urea by CAO, thereby indicating a chemical reaction during the adsorption. This study elucidates the adsorption mechanism of CAO on various indexes of renal failure, providing a scientific basis for its clinical usage.

OBJECTIVE: To evaluate the efficacy and safety of a hospital-made resuscitation pack, a Chinese medicinal herbal compound formula designed to enhance recovery in post-bronchoscopy patients. METHODS: In this randomized, single-blind, placebo-controlled clinical trial, eligible patients were randomly assigned 1:1 to either the treatment or control groups. The patients in the treatment group applied the resuscitation pack, which contained aromatic compounded Chinese herbs. The patients in the control group applied a hospital-made, single herb placebo pack. Packs were placed on the Tiantu (CV 22) acupuncture point for 4 h as soon as the bronchoscopy finished. Efficacy indicators, such as recovery time, patients' symptoms including nausea and dizziness, and adverse events (AEs) were observed and compared. The outcome indices were evaluated at baseline, 1 and 24 h after the bronchoscopy. Subgroup analysis was further performed by patients' age and depth of sedation. RESULTS: When applying generalized estimating equations (GEE) to evaluate the intensity of post-bronchoscopy nausea and vomiting, the intensity was lower in the treatment group (163 cases) compared with the control group (162 cases; 95% CI: 0.004, 0.099, P=0.03]. Also, significantly lower intensity of nausea was observed in the 60-70 years of age subgroup (95% CI: 0.029, 0.169, P=0.006) and deep sedation subgroup (95% CI: 0.002, 0.124; P=0.04). There was no significant difference in dizziness between two groups by GEE (95% CI: -0.134, 0.297; P=0.459). In addition, no serious AEs were observed in either group. CONCLUSIONS Our study found that the resuscitation pack markedly improved patients' symptoms by reducing nausea and vomiting after bronchoscopy without AEs, compared with placebo in the perioperative period. (Trial registration No. ChiCTR2000038299).
Humans ; Male ; Middle Aged ; Female ; Bronchoscopy/adverse effects* ; Single-Blind Method ; Aged ; Drugs, Chinese Herbal/adverse effects* ; Treatment Outcome ; Resuscitation ; Adult ; Medicine, Chinese Traditional

OBJECTIVE: To preliminarily investigate the effect of buccal acupuncture therapy on ameliorating postoperative pain and enhancing recovery quality among patients undergoing radical resection of gastrointestinal cancers. METHODS: Fifty-two participants were randomized at a 1:1 ratio to either the buccal acupuncture or the control group. The acupuncture protocol entailed targeting 5 predetermined acupoints [CA-2 (Upper jiao), CA-3 (Middle jiao), CA-4 (Lower jiao), CA-6 (back), and CA-7 (waist) and two adjustable acupoints [CA-1 (head) and CA-8 (sacrum)] on each side of the face. The outcomes included the Numeric Rating Scale (NRS) scores for each day within 7 days postoperatively, 15-Item Quality of Recovery Scale (QoR-15) scores, analgesics consumption during and after surgery, incidences of postoperative nausea and vomiting, and perioperative levels of interleukin-6 and glucose. Adverse events related to acupuncture were recorded. RESULTS: Of the initial 52 participants, 46 completed the study and were included in the analysis. Findings indicated that the buccal acupuncture group experienced significantly reduced resting NRS scores in post-anesthesia care unit and throughout the postoperative phase (P=0.001 and P=0.003, respectively), along with enhanced QoR-15 scores on the 3rd postoperative day (P=0.008), compared to the control group. No notable differences were identified in the remaining indicators (P>0.05). CONCLUSION Buccal acupuncture therapy demonstrated significant effectiveness in reducing postoperative pain and improving recovery quality for patients undergoing radical resection of gastrointestinal cancers, presenting a viable intervention without associated adverse outcomes. (Trial registration No. ChiCTR2200060441).
Humans ; Male ; Pilot Projects ; Female ; Acupuncture Therapy/methods* ; Pain, Postoperative/therapy* ; Middle Aged ; Gastrointestinal Neoplasms/surgery* ; Aged ; Acupuncture Points ; Adult

OBJECTIVES: To evaluate the performance of a multi-constraint representation learning classification model for identifying ovarian cancer with missing laboratory indicators. METHODS: Tabular data with missing laboratory indicators were collected from 393 patients with ovarian cancer and 1951 control patients. The missing ovarian cancer laboratory indicator features were projected to the latent space to obtain a classification model using the representational learning classification model based on discriminative learning and mutual information coupled with feature projection significance score consistency and missing location estimation. The proposed constraint term was ablated experimentally to assess the feasibility and validity of the constraint term by accuracy, area under the ROC curve (AUC), sensitivity, and specificity. Cross-validation methods and accuracy, AUC, sensitivity and specificity were also used to evaluate the discriminative performance of this classification model in comparison with other interpolation methods for processing of the missing data. RESULTS: The results of the ablation experiments showed good compatibility among the constraints, and each constraint had good robustness. The cross-validation experiment showed that for identification of ovarian cancer with missing laboratory indicators, the AUC, accuracy, sensitivity and specificity of the proposed multi-constraints representation-based learning classification model was 0.915, 0.888, 0.774, and 0.910, respectively, and its AUC and sensitivity were superior to those of other interpolation methods. CONCLUSIONS The proposed model has excellent discriminatory ability with better performance than other missing data interpolation methods for identification of ovarian cancer with missing laboratory indicators.
Female ; Humans ; Ovarian Neoplasms/diagnosis* ; Machine Learning ; ROC Curve

Radiochemotherapy-induced oral mucositis (OM) is a common oral complication in patients with tumors following head and neck radiotherapy or chemotherapy. Erosion and ulcers are the main features of OM that seriously affect the quality of life of patients and even the progress of tumor treatment. To date, differences in clinical prevention and treatment plans for OM have been noted among doctors of various specialties, which has increased the uncertainty of treatment effects. On the basis of current research evidence, this expert consensus outlines risk factors, clinical manifestations, clinical grading, ancillary examinations, diagnostic basis, prevention and treatment strategies and efficacy indicators for OM. In addition to strategies such as basic oral care, anti-inflammatory and analgesic agents, anti-infective agents, pro-healing agents, and photobiotherapy recommended in previous guidelines, we also emphasize the role of traditional Chinese medicine in OM prevention and treatment. This expert consensus aims to provide references and guidance for dental physicians and oncologists in formulating strategies for OM prevention, diagnosis, and treatment, standardizing clinical practice, reducing OM occurrence, promoting healing, and improving the quality of life of patients.
Humans ; Chemoradiotherapy/adverse effects* ; Consensus ; Risk Factors ; Stomatitis/etiology*

Objective:To investigate the impact of donor age on early postoperative liver function recovery in liver transplant recipients, as well as the incidence and risk factors for arterial complications following liver transplantation.Methods:A total of 518 patients who underwent liver transplantation at the Organ Transplantation Center of the Affiliated Hospital of Qingdao University between January 2021 and January 2024 were included in the study. Based on donor age, patients were classified into the elderly donor group (≥70 years, n=28) and the non-elderly donor group (<70 years, n=490). Liver function indicators—including aspartate aminotransferase (AST), alanine aminotransferase (ALT), total bilirubin (TBIL), and direct bilirubin (DBIL)—were measured on postoperative days 1, 3, 7, and 14. The incidence of arterial complications, including hepatic artery thrombosis and hepatic artery stenosis, was recorded. Recipients were further categorized into the arterial complication group (n=26) and the non-arterial complication group (n=492) based on postoperative outcomes, and clinical characteristics of donors and recipients were compared. Binary logistic regression analysis was conducted to identify risk factors for arterial complications.Rusults:No significant differences were observed in baseline characteristics between the elderly and non-elderly donor groups ( P>0.05). However, the elderly donor group exhibited significantly higher AST, ALT, TBIL, and DBIL levels at all postoperative time points compared to the non-elderly donor group (all P<0.05). Specifically, on postoperative day 1, AST and ALT levels were (1,024.57±256.49) U/L and (756.24±145.89) U/L in the elderly donor group, compared to (895.23±225.19) U/L and (614.85±126.51) U/L in the non-elderly donor group. On day 3, AST and ALT levels were (402.46±71.61) U/L and (423.31±87.44) U/L versus (226.37±66.54) U/L and (256.79±70.25) U/L, respectively. On day 7, AST and ALT levels were (91.78±21.84) U/L and (92.36±21.62) U/L versus (68.41±18.38) U/L and (77.47±18.16) U/L. By day 14, AST and ALT levels were (67.52±10.35) U/L and (72.17±16.28) U/L versus (35.32±9.27) U/L and (48.56±14.10) U/L, respectively ( P<0.05 for all comparisons). For bilirubin indicators, TBIL and DBIL levels in the elderly donor group were also consistently higher than in the non-elderly donor group. On day 1, TBIL and DBIL were (95.76±21.93) μmol/L and (64.22±15.07) μmol/L, compared to (77.59±20.48) μmol/L and (51.18±12.96) μmol/L. By day 14, TBIL and DBIL levels had decreased to (41.26±8.30) μmol/L and (32.45±6.21) μmol/L, compared to (28.39±7.15) μmol/L and (20.58±5.04) μmol/L in the non-elderly donor group ( P<0.05 for all comparisons). The incidence of hepatic artery complications was 10.71% (3/28) in the elderly donor group and 4.69% (23/490) in the non-elderly donor group, with no statistically significant difference between the two groups ( P>0.05). Statistical analysis employing independent t-tests and χ2 tests demonstrated significant differences between the arterial complication group and non-arterial complication group in donor quality ratio ( P<0.05) and incidence of hepatic arterial hypoperfusion ( P<0.05). Multivariate binary logistic regression analysis, after adjusting for confounding factors (e.g., recipient gender, age, body mass index [BMI], primary disease, and donor-recipient blood type compatibility), identified recipient-to-donor mass ratio ( OR=1.352, P<0.05) and insufficient hepatic arterial blood flow ( OR=1.497, P<0.05) as independent risk factors for arterial complications following liver transplantation. Conclusion:Elderly liver donors can have a certain impact on early postoperative liver function recovery in liver transplant recipients, but have no significant impact on the occurrence of arterial complications after liver transplantation. The mass ratio of recipients to donors and insufficient hepatic arterial blood flow are independent risk factors for arterial complications after liver transplantation.

Forensic medicine has been designated as a first-level discipline,presenting new opportunities and challenges for the development of forensic medicine.Since the 1980s,the establishment of foren-sic medicine discipline and the cultivation of high-level forensic talents have become hot topics in the development of forensic medicine in China.Since the 13th Five-Year Plan,the forensic team of Shanxi Medical University has been aiming at the forefront,proposing the development goals of"Five First-class"and the discipline development path"Six Major Achievements".It has selected benchmark disci-plines,identified gaps in disciplinary development,unified thoughts,formulated completion timelines,concentrated superior resources,assigned tasks to individuals,and created an"Organized Fill-in-the-Blank Format"forensic medicine discipline construction model with the characteristics of the new era.The construction model of forensic medicine has achieved good results in the goals,discipline frame-work,scientific research,talent cultivation,discipline team and platform construction,forming a rela-tively complete discipline construction and management system,and accumulating valuable experience for the construction of first-level discipline and high-level talent cultivation of forensic medicine.

Objective:To investigate the changes in the expression levels of long non-coding ribonucleic acids (lncRNAs) in human lymphocytes induced by low-dose ionizing radiation (LDIR) and the potential of lncRNAs as radiation biomarkers.Methods:Human immortalized lymphocytes (AHH-1) were irradiated with 0, 0.05, and 0.1 Gy of γ-rays at 24 h to extract RNAs for whole transcriptome sequencing. The sequencing was performed based on the 0, 0.05, and 0.1 Gy groups. The differentially expressed lncRNAs induced by LDIR were identified. The molecular functions, biological processes, and signaling pathway enrichment of differentially expressed genes were analyzed through the Gene Ontology (GO) analysis. Candidate lncRNAs were preliminarily validated using the qRT-PCR method. AHH-1 cells were irradiated with 0, 0.02, 0.05, 0.075, 0.1, and 0.2 Gy to extract the total RNAs at 4, 24, 48, 72, 96, and 120 h. The dose-response relationship of candidate lncRNAs was detected and analyzed. Peripheral blood sampled from eight healthy persons was irradiated with 0, 0.02, 0.05, 0.075, 0.1, and 0.2 Gy in vitro, followed by culturing for 24 h and 48 h to further verify the changes in the expression levels of radiation-responsive lncRNAs at the cellular level. Results:A total of 44 lncRNAs that were significantly up- or down-regulated after 0.05 and 0.1 Gy irradiation were initially identified through transcriptome sequencing. Among them, lncRNAs with over two-fold differential expression included SNHG1, SNHG15, NEAT1, and PRC1-AS1. At the cellular level, compared to 0 Gy, the relative expression level of PRC1-AS1 after 4 h to 48 h of γ-ray irradiation, was significantly elevated at 0.05, 0.075, and 0.1 Gy( t= -3.11 to 1.23, P < 0.05). In contrast, the relative expression level of NEAT1 was significantly up-regulated in a dose range of 0.02 to 0.1 Gy ( t=-2.47 to 2.10, P < 0.05). At the level of human peripheral blood, the relative expression levels of PRC1-AS1 and NEAT1 were significantly increased at 24 h after 0 to 0.2 Gy irradiation ( t=-3.79 to -1.96, P < 0.05). Conclusion:The PRC1-AS1 and NEAT1 with significant changes in expression levels serve as potential LDIR biomarkers.