Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder primarily caused by pathogenic variants in the TSC1 or TSC2 genes. It is characterized by multisystem hamartomatous lesions and neuropsychiatric manifestations. Here we report a young male patient with TSC involving multiple organs, caused by a heterozygous frameshift mutation in TSC2 (c.2071delC, p.Arg691Alafs^*7). The patient initially presented with classic facial angiofibromas and hypomelanotic macules, and subsequently developed psychiatric and behavioral disturbances with auditory hallucinations. Neuroimaging revealed an intracranial mass lesion, which was confirmed as a subependymal giant cell astrocytoma on postoperative histopathology following surgery performed at an outside institution. After admission, the patient underwent a comprehensive diagnostic workup, and multidisciplinary treatment evaluation revealed extensive multisystem involve-ment, including the nervous system, skin, kidneys, lungs, heart, eyes, pancreas, liver and bones. Combined with relevant literature, this article discusses the molecular mechanisms, clinical phenotypes, and comprehensive management of TSC, in order to provide a reference for the standardized and individualized management of this disease.

ObjectiveTo evaluate the antitumor activity of Periplaneta americana extract（PAE） against human-derived lung adenocarcinoma organoids（LUAD-PDOs） and to elucidate its potential mechanism based on transcriptomics. MethodsFresh tumor and adjacent normal tissues from patients with LUAD were collected to construct LUAD-PDOs and normal lung organoid（Nor-PDOs） models using 3D organoid culture technology. The effective intervention concentration of PAE was determined using the cell counting kit-8（CCK-8） assay. Experimental groups included the model group（LUAD-PDOs）， normal group， model administration group（LUAD-PDOs+PAE）， and normal administration group（Nor-PDOs+PAE）. Hematoxylin-eosin（HE） staining was used to observe the pathological structures of PDOs， immunohistochemistry（IHC） was performed to detect the expressions of the proliferation marker Ki-67 and lung adenocarcinoma differentiation markers cytokeratin-7（CK-7） and Napsin A， TUNEL staining was applied to detect cell apoptosis. RNA sequencing（RNA-Seq） was conducted to identify differentially expressed genes（DEGs）， followed by Gene Ontology（GO）， Kyoto Encyclopedia of Genes and Genomes（KEGG）， and Gene Set Enrichment Analysis（GSEA）， alongside protein-protein interaction（PPI） network analysis to screen core mechanisms. Finally， key targets were validated by integrating external database analysis with immunofluorescence（IF）. ResultsNor-PDOs and LUAD-PDOs that highly recapitulated the pathological characteristics of the primary tissues were successfully established. The CCK-8 assay determined that the effective intervention concentration of PAE was 16 g·L^-1. Morphological observation showed that Nor-PDOs exhibited lumen-forming structures， whereas LUAD-PDOs displayed dense， solid structures. CCK-8 and TUNEL assays revealed that， compared with the model group， PAE intervention inhibited the proliferation of LUAD-PDOs and promoted apoptosis in LUAD cells， while showing no significant effect on the viability of Nor-PDOs. Transcriptomic analysis identified 719 DEGs that were significantly reversed after PAE intervention（347 up-regulated and 372 down-regulated）（P<0.05）. GO enrichment analysis indicated that DEGs in the model administration group were significantly enriched in biological processes related to cell cycle regulation compared to the model group. KEGG pathway analysis revealed that PAE affected pathways related to proliferation and metabolism， including pathways in cancer and the p53 signaling pathway. GSEA further confirmed that PAE significantly enhanced the activity of the p53 signaling pathway（P<0.05）. PPI network analysis indicated that breast cancer type 1 susceptibility protein（BRCA1） and checkpoint kinase 1（CHEK1） were the core down-regulated targets in the p53 pathway. IF verified the high expression of BRCA1 and CHEK1 in LUAD-PDOs and their significant downregulation after PAE intervention（P<0.05）. Furthermore， survival analysis based on The Cancer Genome Atlas（TCGA） database indicated that low expression of BRCA1 and CHEK1 was significantly associated with prolonged overall survival in patients with LUAD（P<0.05）. ConclusionPAE effectively inhibits proliferation of LUAD-PDOs and promotes their apoptosis， its anti-tumor mechanism is potentially associated with the activation of the p53 signaling pathway， with BRCA1 and CHEK1 genes likely serving as key downstream targets for the effects of PAE.

ObjectiveTo analyze the characteristics of 150 patients with spinal cord injury complicated with spasticity. MethodsA cross-sectional survey was conducted on 150 patients with spinal cord injury accompanied by spasticity from September, 2019 to December, 2024. Their age, gender, cause of injury, injury site, severity of injury, spasticity severity and other indicators were recorded. The relationships between different characteristics were analyzed, and a correlation analysis of disease duration, spasticity grade, injury level, injury severity and age were conducted. ResultsThere was no significant difference in age distribution between patients with tetraplegia and paraplegia (Z = 0.806, P = 0.420). The proportions of trauma (χ² = 3.982, P = 0.046) and tetraplegia (χ² = 10.559, P = 0.010) were higher in males than in females. Trauma was the main cause of injury in both tetraplegia and paraplegia patients; the proportion of tetraplegia was higher than paraplegia in trauma patients, while paraplegia was higher than tetraplegia in non-trauma patients (χ² = 11.885, P < 0.001). Patients with tetraplegia was dominated by incomplete injury, whereas patients with paraplegia was dominated by complete injury (χ² = 10.885, P = 0.012). Grade A injury was predominant in trauma patients (P = 0.003). Spasticity grade showed a very weak positive correlation with disease duration (r = 0.175, P = 0.032) and age (r = 0.168, P = 0.040). Injury severity showed a very weak positive correlation with age (r = 0.183, P = 0.025). ConclusionCharacteristics of patients with spinal cord injury complicated with spasticity is different with gender, cause of injury, injury level, injury severity.

Debates persist regarding the efficacy and safety of azvudine, particularly its real-world outcomes. This study involved patients aged ≥60 years who were admitted to 25 hospitals in mainland China with confirmed SARS-CoV-2 infection between December 1, 2022, and February 28, 2023. Efficacy outcomes were all-cause mortality during hospitalization, the proportion of patients discharged with recovery, time to nucleic acid-negative conversion (T _NANC), time to symptom improvement (T _SI), and time of hospital stay (T _HS). Safety was also assessed. Among the 5884 participants identified, 1999 received azvudine, and 1999 matched controls were included after exclusion and propensity score matching. Azvudine recipients exhibited lower all-cause mortality compared with controls in the overall population (13.3% vs. 17.1%, RR, 0.78; 95% CI, 0.67-0.90; P = 0.001) and in the severe subgroup (25.7% vs. 33.7%; RR, 0.76; 95% CI, 0.66-0.88; P < 0.001). A higher proportion of patients discharged with recovery, and a shorter T _NANC were associated with azvudine recipients, especially in the severe subgroup. The incidence of adverse events in azvudine recipients was comparable to that in the control group (2.3% vs. 1.7%, P = 0.170). In conclusion, azvudine showed efficacy and safety in older patients hospitalized with COVID-19 during the SARS-CoV-2 omicron wave in China.

Objective To explore application of intermittent oral to esophageal tube feeding(IOE)supported by continuity of care in stroke patients with swallowing disorders.Methods A total of 100 stroke patients with swallowing disorders admitted to the Second Affiliated Hospital of Wenzhou Medical University from January to September 2023 were selected as subjects,and they were divide into control group(n=50)and observation group(n=50)by using random number table method.Control group received nutritional support through a nasogastric tube,while observation group received IOE.Swallowing function of patients before and after intervention,nutritional indicators,item short from health survey(SF-36)scores,and incidence of complications were compared between two groups.Results After the intervention,the swallowing function of observation group improved compared to control group(P＜0.05).Nutritional indicators of both groups increased,and observation group was higher than control group(P＜0.05).The scores of each item on the SF-36 in observation group were higher than those in control group(P＜0.05).The incidence of complications in observation group was reduced compared to control group(P＜0.05).Conclusion Implementing IOE with continuity of care support can improve swallowing function of stroke patients with swallowing disorders,reduce occurrence of complications.

Objective:To analyze the clinical characteristics of Pneumocystis pneumonia (PCP) in patients with drug-induced hypersensitivity syndrome (DIHS), and to identify factors influencing the development of PCP in patients with DIHS. Methods:Patients with DIHS accompanied by PCP who were hospitalized at Department of Dermatology, Peking Union Medical College Hospital from January 2019 to August 2024 were collected, and their demographic characteristics, clinical manifestations, laboratory tests, and treatment data were retrospectively analyzed. A matched control group of DIHS patients without PCP was selected based on sex, age (± 3 years), and disease severity at a ratio of 2∶1. Comparisons between groups were made using the independent samples t-test, Mann-Whitney U test, and Fisher's exact test. Results:Eight patients with DIHS accompanied by PCP were enrolled, aged 62.38 ± 20.74 years, including 5 males and 3 females. All DIHS cases were categorized as severe, and high-dose corticosteroids were applied in the treatment of DIHS, with 7 cases additionally receiving intravenous immunoglobulins, immunosuppressants, biologic agents, or Janus kinase inhibitors. During the corticosteroid tapering, 8 patients experienced recurrences of DIHS, and 6 patients exhibited reactivation of viruses, with cytomegalovirus (CMV) as the most common virus. All the patients presented with cough and dyspnea when PCP occurred, and the diagnosis of PCP was confirmed by the presence of Pneumocystis jirovecii DNA in sputum or bronchoalveolar lavage fluid. Seven patients improved with anti-PCP treatment, while one succumbed due to disease progression. Univariate analysis indicated that, compared to DIHS patients without PCP, DIHS patients with PCP received longer treatment with prednisone equivalent > 20 mg/d, had lower peripheral lymphocyte counts, CD4 + T lymphocyte counts, and albumin levels, and had a higher frequency of DIHS recurrence and CMV reactivation during the disease course (all P < 0.05) . Conclusions:Cough and dyspnea are common manufestations of PCP in patients with DIHS. Prolonged use of high-dose corticosteroids, decreased peripheral lymphocytes, decreased CD4 + T lymphocytes, DIHS recurrence, CMV reactivation, and decreased albumin levels may be the influencing factors for concurrent PCP in DIHS patients.

Objective:To explore the categories and influencing factors of depression in mild cognitive impairment (MCI) patients, so as to provide a reference for formulating precise interventions for depression in MCI patients.Methods:A cross-sectional investigation was conducted. Patients with MCI admitted to the Department of Neurology, The First Affiliated Hospital of Nanchang University from December 2022 to December 2023 were selected as the investigation objects by convenience sampling method. The general data questionnaire, Hamilton Depression Rating Scale-17, Montreal Cognitive Assessment Scale and Lubben Social Network Scale-6 were used to conduct a survey. Latent profile analysis and multiple Logistic regression analysis were used to explore the categories and influencing factors of depression.Results:A total of 537 patients with MCI were included, including 335 females and 202 males, aged (65.72 ± 9.53) years old. MCI patients scored (22.67 ± 4.68) points on the Montreal Cognitive Assessment Scale, (13.27 ± 5.73) points on the Lubben Social Network Scale-6, and 9.00 (5.00, 13.00) points on the Hamilton Depression Rating Scale-17. The depression in MCI patients could be divided into three categories: low risk depression (67.8%, 364/537), low depression-sleep disorder (20.1%, 108/537), and high depression-anxiety (12.1%, 65/537). The multiple Logistic regression analysis showed that gender, education, living style, social isolation and cognitive function were the influencing factors for different categories of depression ( OR values were 0.443-2.921, all P<0.05). Conclusions:There are individual differences in depression in patients with MCI, and precise intervention should be implemented according to the characteristics of different categories of depression.

Objective To explore the correlation of MET status in patients with advanced prostatic acinar adenocarcinoma with the clinical pathological parameters and prognosis. Methods The specimen from 135 patients with advanced prostatic acinar adenocarcinoma was included. The expression of c-MET protein was detected via immunohistochemistry, and MET gene amplification was assessed by fluorescence in situ hybridization. The relationships of c-MET expression and gene amplification with clinicopathological features and prognosis were analyzed. Results The positive expression rate of c-MET was 52.60% (71/135). Compared with the c-MET expression in adjacent tissues, that in tumor tissues showed lower heterogeneous expression. Among the cases, 1.71% (2/117) exhibited MET gene polyploidy, but no gene amplification was detected. Positive c-MET expression was significantly correlated with high Gleason scores and grade groups (P=0.0073). However, no significant relationship was found between c-MET expression and progression-free survival or post-treatment t-PSA levels. Conclusion c-MET protein is expressed at a relatively low level in advanced prostatic acinar adenocarcinoma, suggesting that c-MET may not be a viable target for ADC drug development in prostatic acinar adenocarcinoma.

Objective: To retrospectively analyze the clinical data of 474 newborns with hyperbilirubinemia, and to investigate the clinical characteristics of hyperbilirubinemia caused by ABO hemolytic disease of the fetus and newborn (ABO-HDFN) and factors influencing the phototherapy duration. Methods: A total of 474 neonates with hyperbilirubinemia treated in the First Hospital of Lanzhou University from January 2019 to January 2023 were enrolled. Blood type identification and the standard serological tests (direct antiglobulin test, serum free antibody test, and antibody elution test) were performed for all neonates. Baseline clinical data were collected and analyzed. According to the results of the hemolysis tests, neonates were divided into hemolytic jaundice group and non-hemolytic jaundice group. Clinical indicators, including hemoglobin levels, length of hospital stay, and phototherapy duration, were compared between the two groups. A multiple linear regression model was used to explore clinical factors influencing the duration of phototherapy. Results: Among the 474 neonates with hyperbilirubinemia, 354 were diagnosed with ABO-HDFN (hemolytic group), while 120 were without ABO-HDFN (non-hemolytic group). The incidence of ABO-HDFN in neonates with blood type A (55.93%, 198/354) was significantly higher than those with blood type B (44.07%, 156/354) (P<0.05). Furthermore, neonates born to multiparous women had a significantly higher ABO-HDFN incidence (81.56%, 146/179) than first-born neonates (70.51%, 208/295) (P<0.05). Neonates in the hemolytic group had significantly lower hemoglobin levels (170.67±21.86 g/L vs 178.99±22.05 g/L, P<0.001), lower red blood cell counts (4.66±0.63×10 /L vs 4.89±0.59×10 /L, P<0.05), and lower hematocrit (50.05±6.56% vs 52.61±6.75%, P<0.05) compared to the non-hemolytic group. Additionally, the hemolytic group had significantly longer hospital stays (6 [5, 9] days vs 6 [4, 8] days), longer phototherapy duration (62 [38, 84.25] h vs 53 [34.25, 64.77] h), and higher frequency of jaundice episodes (9 [7, 13] times vs 8 [6, 12] times] compared to the non-hemolytic group (all P<0.05). Regression analysis indicated that a positive indirect Coombs test and multiparity were independent risk factors associated with prolonged phototherapy duration (P<0.05). Conclusion: ABO incompatibility is the leading cause of hemolytic disease in neonates, particularly in cases where the mother has blood type O and the neonate has blood type A. In such cases, close monitoring of bilirubin levels is strongly recommended. Multiparous pregnancies increase the risk of alloimmune hemolysis. Therefore, neonates born to multiparous women may require more frequent bilirubin monitoring and appropriate prenatal interventions when necessary. Additionally, changes in indicators such as hemoglobin level and red blood cell count should be closely monitored as early warning indicators for hemolytic anemia and bilirubin elevation.

OBJECTIVES: This study aimed to investigate the perception of dental outpatient care quality from multiple perspectives of administrators, physicians, nurses, and patients and propose nursing care quality evaluation indices that are consistent with the clinical reality to provide reference for the construction of a scientific, systematic, and comprehensive dental outpatient care quality evaluation system. METHODS: A total of 39 interviewees, including 7 administrators, 11 doctors, 11 nurses, and 10 patients, were selected for semi-structured in-depth interviews in five regionally representative tertiary-level A stomatological specialty hospitals nationwide during January-April 2024 by using a multistage sampling method. Colaizzi 7-step analysis was used to analyze and summarize the interview data. Themes were extracted on the basis of the Structure-Process-Outcome (SPO) three-dimensional quality assessment model. RESULTS: Five main themes and 15 secondary themes were extracted from three quality dimensions: structure, process, and result. The related topics of structural quality were as follows: disinfection and isolation norms, equipment and consumable management, nursing manpower ratio and nurse education structure, and emergency capability. The related topics of process quality were as follows: pre-diagnosis risk assessment, patient triage and guidance, communication and attitude, health education, humanistic care, continuous care, specialty operation, and four-hand operation. The related topics of result quality were as follows: satisfaction, adverse event management and analysis, effective complaints and disputes. CONCLUSIONS Structure quality is the foundation, process quality is the core, and result quality is the key in the evaluation of the quality of oral outpatient care. The standardization of disinfection and isolation, equipment and consumable management, allocation of reasonable nursing manpower and post capacity, implementation of high-quality nursing services, and improvement of the quality and satisfaction of medical cooperation are necessary guarantees to ensure the quality of oral outpatient care.
Humans ; Quality of Health Care ; Ambulatory Care/standards* ; Dental Care/standards* ; Outpatients