OBJECTIVE: To analyze the functional impact of a rare heterozygous variant of SOS1 gene (c.283G>A, p.E95K) identified in a fetus with cervical cystic hygroma and to explore its association with the disease phenotype. METHODS: A pedigree analysis was carried out to evaluate the co-segregation of the variant with the disease phenotype. Bioinformatic tools were employed to assess the conservation, protein structure and stability. Functional validation was conducted on HEK293T cells using fluorescence quantitative reverse transcription-PCR and Western blotting to measure the expression of SOS1 and phosphorylation levels of extracellular regulated protein kinases (ERK) and c-Jun N-terminal kinase. A literature review of previously reported disease-associated SOS1 variants was also carried out. This study has been approved by the Medical Ethics Committee of West China Second University Hospital, Sichuan University (Ethics No.: 201940). RESULTS: The variant was inherited from the husband of the woman with distinctive facial features and has co-segregated with the phenotype. Bioinformatics analysis indicated that the variant is located in a highly conserved region, and that p.E95K could disrupt key amino acid interactions and protein stability. Multiple bioinformatic predictions consistently suggested the pathogenicity of this variant. Functional assays demonstrated reduced SOS1 protein expression and decreased ERK phosphorylation. CONCLUSION This study has revealed the functional impact of the SOS1 c.283G>A (p.E95K) variant, suggesting that it may contribute to the developmental phenotypes through a haploinsufficiency mechanism.
Humans ; SOS1 Protein/chemistry* ; Female ; HEK293 Cells ; Male ; Pedigree ; Phenotype ; Adult

Hygroscopicity research has long been a key focus and hot topic in Chinese materia medica（CMM）. Elucidating hygroscopic mechanisms plays a vital role in formulation design， process optimization， and storage condition selection. Hygroscopic models serve as essential tools for characterizing CMM hygroscopic mechanisms， with various types available. The double exponential model is a kinetic mathematical model constructed based on the law of conservation of energy and Fick's first law of diffusion， tailored to the physical properties of CMM extracts. In recent years， this model has been extensively applied to simulate the dynamic moisture absorption behavior of CMM extracts and solid dosage forms under varying humidity conditions. It has revealed the correlation between moisture absorption kinetic parameters and material properties， offering a new perspective for characterizing the moisture uptake behavior of CMM. This paper systematically reviews the application progress of this model in the field of CMM， analyzes its advantages， disadvantages， and challenges in this domain， and explores its potential application trends in other fields. It aims to provide references for elucidating the moisture absorption mechanisms of CMM and researching moisture-proofing technologies， while also offering insights for its broader application in food and polymer materials.

AIM:To analyze differential proteins associated with the pathogenesis of dry eye(DE)using bioinformatics methods, in order to reveal their potential molecular mechanisms.METHODS: Articles published in PubMed and EMBASE databases from the inception of the database to August 31, 2023, that used proteomic methods to detect protein expression in clinical samples of dry eye were searched. Differential proteins were selected and further analyzed using the STRING database and Cytoscape software for hub gene screening and module analysis. Protein-protein interaction(PPI)analysis, gene ontology(GO)functional annotation, and Kyoto encyclopedia of genes and genomes(KEGG)pathway enrichment analysis were performed.RESULTS: A total of 21 articles were included, identifying 74 differentially expressed proteins. The most frequently occurring differential proteins were calgranulin A(SA1008), lipocalin-1(LCN1), lysozyme C(LYZ), mammaglobin-B(SCGB2A1), proline-rich protein 4(PRR4), transferrin(TF), and calgranulinB(S100A9). The top 10 hub genes were serum albumin(ALB), tumor necrosis factor(TNF), interleukin 6(IL6), IL1B, IL8, matrix metalloproteinase 9(MMP9), alpha-1-antitrypsin(SERPINA1), IL10, complement component 3(C3), and lactotransferrin(LTF). Module analysis suggested MMP9 and PRR4 as seed genes. KEGG analysis showed that differential proteins were mainly enriched in the IL17 signaling pathway(61.9%).CONCLUSION: The results reveal potential molecular targets and pathways for DE and confirm the association between the pathogenesis of DE and inflammation. Further in-depth research is needed to confirm the significance of these biomarkers in clinical practice.

Fungal keratitis represents a significant cause of blindness, with current therapeutic approaches yielding limited success. The disease's onset and progression are primarily driven by fungal virulence factors and the host's immune response. The innate immune system is the first to respond, with neutrophils playing a pivotal role in the antifungal defense. Although neutrophils are critical for pathogen clearance, their excessive or abnormal activation can lead to tissue damage, exacerbating the disease. Thus, elucidating the mechanisms underlying neutrophil activity in fungal keratitis is crucial for refining treatment strategies. This article aims to systematically review the principal antimicrobial mechanisms employed by neutrophils, including phagocytosis, degranulation, and the formation of neutrophil extracellular traps(NETs). Furthermore, it explores the crosstalk between neutrophils and macrophages, alongside their collective impact and underlying mechanisms in the context of fungal keratitis. Exploration of the mechanisms of fungal keratitis facilitates precise intervention and enhances the efficacy of treatment.

AIM: To assess the effectiveness of selective laser trabeculoplasty(SLT)in the treatment of primary open angle glaucoma(POAG).METHODS:Totally 24 patients(33 eyes)with POAG who had poor control of intraocular pressure(IOP)from June 2022 to December 2023 were included in this retrospective study, and all of them were treated with SLT. Furthermore, the IOP, mean deviation(MD), mean sensitivity(MS), and the thickness and vascular density(VD)of optic disc nerve layer were compared after treatment. RESULTS: There were significant reducion in IOP at 1, 3, 6, 12 mo after treatment(all P<0.001). There were no statistically significant differences in MD and MS before treatment and at 6 and 12 mo after treatment(all P>0.05), and there were no statistical significant differences in the thickness and VD of optic disc(all P>0.05).CONCLUSION: SLT can significantly reduce IOP in POAG patients in the short term, without damaging the visual field and optic disc nerves, while the effectiveness of SLT decreases over time.

Objective To analyze the current status of dietary quality in patients with chronic atrophic gastritis (CAG), and to explore the influencing factors of dietary quality. Methods A retrospective study was conducted on 550 patients with CAG admitted to the hospital from April 2021 to April 2024. Self-made basic data questionnaire, dietary balance index (DBI), and hospital anxiety and depression scale-anxiety subscale (HADS-A) were used for investigation. Multivariate linear regression analysis was applied to analyze the influencing factors of DBI-lower bound score (LBS). Results The average score of DBI-LBS in 550 patients with CAG was (31.45±8.53) points. There were significant differences in DBI-LBS scores among CAG patients in terms of age, body mass index (BMI), Helicobacter pylori (HP) infection, marital status, drinking history, smoking history, CAG severity, HADS-A score and concurrent gastrointestinal diseases (P<0.05). Multivariate linear regression analysis of the above influencing factors indicated that BMI, smoking history, HADS-A score and CAG severity were independent influencing factors of DBI-LBS score in CAG patients (P<0.05). Conclusion The general dietary quality is not optimistic in CAG patients, showing a moderate deficiency in dietary intake. BMI, disease severity and psychological status of patients are independent factors affecting dietary quality.

Xiao Chaihutang， originating from the Treatise on Typhoid and Miscellaneous Diseases， is a classic formula for harmonizing the Shaoyang. It excels in regulating the pivotal mechanism and unblocking the triple energizer， corresponding to the pathogenesis of digestive system tumors characterized by the interlocking of deficiency， stasis， phlegm， and toxicity， as well as disharmony between Yin and Yang. This paper systematically reviews research findings from China and abroad over the past decade， exploring the anti-tumor effects of Xiao Chaihutang on digestive system tumors from three dimensions： theoretical rationale， clinical efficacy， and molecular mechanisms. At the level of principle and method， Xiao Chaihutang takes "harmonization" as its core therapeutic guideline. By reconciling the exterior and interior to restore the Shaoyang pivot， harmonizing Yin and Yang to improve the tumor microenvironment， and regulating the liver and spleen to consolidate and protect the foundation of postnatal essence， it promotes the restoration of the body's dynamic balance of Yin and Yang. Clinical studies have demonstrated that Xiao Chaihutang， used alone or in combination with modern medical therapies， shows definite efficacy against digestive system tumors such as hepatocellular carcinoma， pancreatic carcinoma， and gastrointestinal carcinoma. It can significantly improve patients' quality of life， inhibit tumor progression， effectively relieve concomitant symptoms such a s cancer-related fever， anxiety， depression， and insomnia， and alleviate postoperative embolic syndromes as well as adverse reactions to radiotherapy and chemotherapy. Experimental studies have revealed that Xiao Chaihutang can inhibit tumor cell proliferation， induce apoptosis， arrest the cell cycle， suppress tumor cell invasion and metastasis， and improve the tumor microenvironment. Through the above analysis， this study elucidates the current clinical and experimental research status of Xiao Chaihutang in the treatment of digestive system tumors， aiming to provide theoretical support for its precise clinical application. On this basis， it further explores key issues in the identification of pharmacodynamic substances and the accumulation of evidence in evidence-based medicine， thereby offering a new perspective for the innovative development of integrative Chinese and Western medicine in synergistic cancer therapy.

Objective:To analyze inpatients preferences for an unaccompanied ward and its influencing factors, for references for the implementation of unaccompanied ward management.Methods:Based on a convergent mixed research design, a convenience sampling method was used to select inpatients who visited a tertiary hospital from June to August 2024 as the survey subjects. A questionnaire survey was conducted on their willingness to choose the unaccompanied ward (provided by medical nursing staff). Meanwhile, using purposive sampling method, 10 inpatients and 11 accompanying family members were selected for semi-structured interviews about unaccompanied ward prference, and the interview topics were summarized and extracted. The results of quantitative and qualitative were compared and integrated.Results:The quantitative research results showed that among the 805 inpatients included, 125 patients (13.03%) chose medical caregivers, 382 patients (39.83%) chose their spouses, and 272 patients (28.36%) chose their children; 411 patients (24.54%) did not choose medical caregivers due to financial burden; 509 patients (63.23%) believed that the cost of an unaccompanied ward should be less than 120 yuan/day. The qualitative research results showed that the interview data formed three themes, including the driving factors of caregiving form selection intention, the emotional tendency of caregiving form selection intention, and the assessment of the benefits and drawbacks of caregiving form selection intention. The mixed research results showed that the majority of inpatients choose their spouse or children accompany them, and their willingness to choose medical caregivers is mainly influenced by service costs and family labor. However, its did not affect patients who are young or have difficulty caring for them; Influenced by traditional Chinese culture, patients tended to choose relatives to accompany them; The main reasons why patients did not choose unaccompanied wards were the economic burden and the mismatch between medical nursing staff services and their expectations.Conclusions:Inpatients tended to choose family members to accompany them. Their willingness to choose unaccompanied ward was influenced by economic burden, family labor, patient age, caregiving difficulty, and filial piety culture.

Objective:To evaluate the efficacy and safety of reduced intensity conditioning (RIC) combined with posttransplant high-dose cyclophosphamide (PTCY) in the treatment of high-risk and relapsed/refractory malignant hematological diseases through allogeneic hematopoietic stem cell transplantation (allo-HSCT).Method:A retrospective analysis was conducted on clinical data of 42 recipients with high-risk or relapsed/refractory malignant hematological diseases who underwent allo-HSCT using the RIC-PTCY regimen at the First Affiliated Hospital of Soochow University from December 2014 to August 2023. Data were collected on engraftment rate, incidence of graft-versus-host disease (GVHD), infections, relapse, and survival outcomes.Result:The median age of the 42 recipients was 52.5 years (range, 20-75 years). Among them, 23 were classified as high-risk and 19 as relapsed/refractory. Three recipients experienced graft failure, and one recipient died of infection early after transplantation. The remaining 38 recipients achieved complete donor chimerism at a median of 21 days (range, 9-52 days). The median time to neutrophil and platelet engraftment was 14 days (range, 9-27 days) and 15 days (range, 7-51 days), respectively. The cumulative incidence (CI) of grade I-II and grade III-IV acute GVHD (aGVHD) at 100 days post-transplantation was 23.7% and 18.4%, respectively. The 2-year CI of chronic GVHD (cGVHD) was 30.1%, with no moderate-to-severe cGVHD observed. The CI of pulmonary and bloodstream infections was 45.2%. The CI of infections with cytomegalovirus (CMV), Epstein-Barr virus (EBV), and BK virus (BKV) was 21.1%, 2.9%, and 7.9%, respectively. The CI of grade I-II hemorrhagic cystitis was 15.8%. The median follow-up duration was 11.2 months (range, 0.4-106.9 months). At the last follow-up, the overall survival (OS) and disease-free survival (DFS) rates were 40.7% and 38.5%, respectively. The cumulative incidence of relapse and non-relapse mortality (NRM) was 44.9% and 19.5%, respectively.Conclusion:The RIC-PTCY regimen may improve early post-transplant outcomes and broaden donor availability. recipients with high-risk or relapsed/refractory malignant hematologic diseases may benefit from this transplantation strategy.

Objective:To explore the effect of self-compassion-based writing on prosocial behavior in college students with different self-construals.Methods:A total of 182 college students were recruited,and the Self-Con-structional Scales were used to determine the self-construal types(independent or interdependent).Participants were then assigned to either a self-compassion-based writing group(n=91)or a non-self-compassion daily writing group(n=91)and completed writing tasks according to the respective instructions.Prosocial behavior was evaluated with the Prosocial Tendencies Measure(PTM),situational judgment tests,and donation amounts.Results:The evaluation results from the PTM showed that prosocial behavior was significantly higher in individuals with interdependent self-construal compared to those with independent self-construal(P＜0.001),the main effect of the group type was not statistically significant(P＞0.05).The evaluation results from situational judgment tests showed that prosocial behavior was significantly higher in individuals with interdependent self-construal compared to those with independ-ent self-construal(P＜0.001),the self-compassion-based writing group demonstrated significantly more prosocial behavior than the non-self-compassion daily writing group(P＜0.05).The evaluation results from donation a-mounts showed that the main effect of self-construal type was not statistically significant(P＞0.05),the self-com-passion-based writing group demonstrated significantly more prosocial behavior than the non-self-compassion daily writing group(P＜0.05).Conclusion:Compared to daily writing,self-compassion-based writing could effectively increase prosocial behavior in college students,regardless of their self-construal type.