OBJECTIVE To investigate the influence of CYP2C19 gene polymorphism on platelet function and inflammatory cytokines in elderly patients with ischemic stroke， and to analyze potential factors associated with poor prognosis. METHODS A retrospective study was conducted on elderly patients with ischemic stroke admitted to our hospital from June 2024 to June 2025， wh o underwent CYP2C19 genotype testing and received antiplatelet therapy with clopidogrel. The levels of platelet function indicators and inflammatory cytokines before and after treatment were compared among patients with different metabolic phenotypes. Based on the prognosis at 6 months post-treatment， patients were divided into poor prognosis group and good prognosis group. Univariate analysis was performed on general data， metabolic phenotype， the levels of platelet function indicators and inflammatory cytokines. Variables with P ＜0.05 and the levels of inflammatory cytokines before treatment were included in a multivariate Logistic regression analysis to identify independent risk factors for poor prognosis. Multiple linear regression was used to further analyze the relationship between metabolic phenotypes and inflammatory cytokines. RESULTS A total of 448 elderly patients with ischemic stroke were included； among them， 162 cases were normal metabolic phenotype， 218 were intermediate metabolic phenotype， and 68 were poor metabolic phenotype. No rapid or ultrarapid metabolic phenotypes were observed. After treatment， platelet aggregation rate， the levels of P-selectin and platelet activated complex-1 （PAC-1）， high-sensitivity C-reactive Protein （hs-CRP）， interleukin-1β （IL-1β）， IL-6 and tumor necrosis factor-α （TNF-α） in the normal metabolic phenotype group， intermediate metabolic phenotype group， and poor metabolic phenotype group （except for platelet aggregation rate， and the levels of P-selectin and PAC-1 in the poor metabolic phenotype group） were significantly lower than those before treatment in the same group. Moreover， the above indicators in the normal metabolic phenotype group were significantly lower than those in the intermediate and poor metabolic phenotype groups at the corresponding time， and the levels of platelet function indicators in the intermediate metabolic phenotype group were significantly lower than those in the poor metabol ic phenotype group at the corresponding time （ P ＜0.05）. Univariate and multivariate Logistic regression analyses showed that combined with hypertension， combined with diabetes mellitus， and intermediate or poor metabolic genotypes were independent risk factors for poor prognosis in elderly patients with ischemic stroke （ P ＜0.05）. Multiple linear regression analysis showed that serum levels of hs-CRP， IL-1β， IL-6 and TNF-α before treatment were significantly higher in patients with intermediate and poor metabolic genotypes compared to those with normal metabolic genotype （ P ＜0.05）， with a greater magnitude of increase in inflammatory cytokines observed in the patients with poor metabolic genotype. CONCLUSIONS The elderly ischemic stroke patients with CYP2C19 intermediate and poor metabolic genotypes have poor inhibition effect on platelet and higher levels of inflammatory cytokines than normal metabolic genotype； CYP2C19 gene polymorphism， and in combination with hypertension and diabetes， can be used as independent predictors of poor prognosis.

AIM:To automatically identify and quantitatively assess myopia-related fundus structural changes by combining non-mydriatic color fundus photography with an artificial intelligence(AI)-powered quantitative fundus analysis system and to further analyze the correlations between these fundus parameters and spherical equivalent(SE), axial length(AL), and age, providing the objective basis for monitoring myopia progression and supporting the formulation of personalized myopia prevention and control strategies. METHODS:A cross-sectional study was conducted enrolling myopic patients aged 18-50 y who underwent myopia screening from March 2023 to December 2023. Patients were stratified into three groups based on SE: the -3.00 D

BACKGROUND:Studies have shown that ischemia-induced cellular autophagy dysfunction is a key factor in brain injury.Autophagy related genes 6(ATG6),microtubule-associated protein 1 light chain(LC3),p62,and other autophagy key proteins are involved in the processes such as neuronal axonal degeneration,death,and intracellular homeostasis maintenance,playing an important role in the recovery of neural function. OBJECTIVE:To review the research progress in the role of cellular autophagy in cerebral ischemic injury and the regulatory mechanism of traditional Chinese medicine. METHODS:The first author used"ischemic stroke,brain tissue injury,cellular autophagy,signaling pathways,traditional Chinese medicine compounds,terpenoids,alkaloids,flavonoids,saponins,lignans,phthalates"as Chinese and English keywords respectively to search for literature on autophagy,cerebral ischemic injury,and the regulatory mechanisms of traditional Chinese medicine from China National Knowledge Infrastructure(CNKI)and PubMed databases from January 2016 to February 2024.Literature that is not highly relevant,repetitive,or outdated was excluded.A total of 1 746 relevant literature were retrieved,and 92 articles were ultimately included. RESULTS AND CONCLUSION:Numerous studies have confirmed that autophagy plays an important role in cerebral ischemic injury.Moderate autophagy can promote cell survival,while excessive autophagy exacerbates brain injury.Traditional Chinese medicine can regulate the expression of autophagy related proteins,inhibit neuronal necrosis and apoptosis,and exert neuroprotective effects at different stages of cerebral ischemia by regulating signaling pathways such as PI3K/Akt/mTOR,AMPK-mTOR,and mitogen activated protein kinase.

Hemodynamic monitoring in shock is one of the core challenges in sepsis management.This article systematically explores how to optimize hemodynamic management in septic shock from three perspectives:assessment of fluid responsiveness and tolerance,monitoring of arterial and venous blood pressure,and macro- and microcirculatory monitoring.Firstly,fluid responsiveness assessment is the foundation of fluid therapy,but it must be combined with fluid tolerance to avoid fluid overload.Secondly,the refined evaluation of arterial and venous pressure changes,from macrocirculation to microcirculation,provides a more comprehensive perspective for hemodynamic management.Thirdly,the transition from cardiac output to microcirculatory flow is critical for optimizing oxygen delivery,requiring dynamic adjustment of treatment through both invasive and non-invasive techniques,while also considering the relationship between cardiac output and oxygen delivery and their impact on tissue oxygenation.By integrating these monitoring approaches,individualized and precise treatment for septic shock patients can be achieved,thereby improving outcomes.

BACKGROUND:Research has shown that endoplasmic reticulum stress-induced autophagy of neurons in the ischemic penumbra is a key link in cerebral ischemia-reperfusion injury.Autophagy mediated by the dissociation and activation of endoplasmic reticulum transmembrane proteins PERK,IRE1 α,ATF6,and GRP78/BIP plays an important role in neuronal outcomes.Traditional Chinese medicine can regulate endoplasmic reticulum stress-autophagy,reduce neuronal damage or death,and exert neuroprotective effects.OBJECTIVE:To explore the role of endoplasmic reticulum stress-autophagy in cerebral ischemia-reperfusion injury and the research progress in the regulatory mechanisms of traditional Chinese medicine.METHODS:A literature retrieval was conducted in CNKI and PubMed for relevant literature related to endoplasmic reticulum stress,autophagy,cerebral ischemia-reperfusion injury,and regulation by traditional Chinese Medicine published from January 2015 to May 2024.The search terms were"cerebral ischemia-reperfusion injury,ischemic stroke,brain injury,endoplasmic reticulum stress,autophagy,traditional Chinese medicine,compounds,signaling pathways,saponins,polyphenols,alkaloids"in Chinese and English,respectively.Any literature that is inconsistent with the research content,outdated,or duplicated was excluded.A total of 1197 relevant literature were retrieved,and 71 articles were ultimately included.RESULTS AND CONCLUSION:(1)Numerous studies have suggested that endoplasmic reticulum stress-autophagy is closely related with cerebral ischemia-reperfusion injury.(2)The active ingredients and compound formulas of traditional Chinese medicine monomers can regulate the expression of endoplasmic reticulum stress-autophagy related proteins,alleviate neuronal damage,and exert neuroprotective effects by regulating signal pathways such as PERK-eIF2α-ATF4,IRE1α-ASK1-JNK,and IRE1α-XBP.

Objective:To explore the potential profile categories of self-disgust in young and middle-aged breast cancer patients, and analyze the influencing factors of different categories.Methods:A convenience sampling method was used, and 270 young and middle-aged breast cancer patients admitted to the thyroid and breast cancer ward and oncology ward of Fenyang Hospital in Shanxi Province from September 2023 to April 2024 were the study subjects. The survey was conducted transect surveys using the general information questionnaire, Questionnaire for the Assessment of Self-Disgust, Social Constraints Scale, the Chronic Illness Rejection and Discrimination Scale. Potential categories of self-disgust in young and middle-aged breast cancer patients were explored using latent profile analysis, and unordered multinomial Logistic regression was employed to investigate their influencing factors.Results:A total of 234 young and middle-aged female breast cancer patients were included, with the age of (45.61±10.90) years old. Latent profile analysis revealed three potential categories of self-hatred in these patients: low disgust group (45.30%, 106/234), medium disgust group (41.45%, 97/234), and generalized high disgust group (13.25%, 31/234). Compared to the low disgust group, patients with more comorbidities and poorer self-care ability were more likely to belong to the generalized high disgust group ( OR=0.244, 8.775, both P<0.05). Patients with a longer duration of illness and higher scores on the social constraints scale and chronic illness rejection and discrimination scale were more likely to fall into the medium disgust group and the generalized high disgust group ( OR values were 0.156 - 1.317, all P<0.05). Conclusions:The level of self-disgust in young and middle-aged breast cancer patients is significantly heterogeneous. Nursing staff should formulate personalized intervention strategies according to this classification characteristic, which can be cut from the perspective of reducing patients' social restriction and chronic illness rejection and discrimination to improve patients' acceptance of the disease and self-acceptance level, and then reduce their self-disgust.

OBJECTIVE: To explore the genetic testing outcomes of a fetal family with Thyroid dyshormonogenesis type 5 (TDH5) and familial Neurofibromatosis type 1 (NF1), and to clarify the association between clinical manifestations and genetic variations. METHODS: One case of a TDH5 combined with familiar NF1 fetus treated at Gansu Maternal and Child Health Hospital in January 2024 was selected as the research subject. The clinical and family history data of the fetus were collected by retrospective research method. 10-15 mL of fetal amniotic fluid, and 2-3 mL of peripheral blood from the parents, sister, and grandfather of the fetus were collected, and genomic DNA was extracted for trio whole-exome sequencing (trio-WES). The Sanger sequencing was utilized to validate candidate variants for family verification. According to the Standards and Guidelines for the Interpretation and Reporting of Sequence Variants of the American Society of Medical Genetics and Genomics (ACMG) (hereafter referred to as the ACMG guidelines), the pathogenicity of the detected variants was classified. This study has been approved by the Medical Ethics Committee of Gansu Maternal and Child Health Hospital [Ethics No.（2021）GSFY（65）]. RESULTS: The fetal ultrasound indicated the nuchal translucency (NT) thickening, and the thyroid function test results of the sister showed an increase in thyroid stimulating hormone and a decrease in free thyroid hormone. Simultaneously, there were cafe-au-lait macules of various sizes in multiple parts of the body of the sister, and the mother had a similar cafe-au-lait macules phenotype. The trio-WES results revealed that there was a c.413dupA (p.Tyr138*) frameshift mutation in exon4 and c.573G>A (p.Trp191*) nonsense mutation in exon5 of the fetal DUOXA2, which were inherited from the mother and father, respectively. In accordance with the ACMG guidelines, they were classified as pathogenic variant (PVS1+PM2_Supporting+PM3) and likely pathogenic variant (PVS1+PM2_Supporting), respectively. And the nonsense mutation c.6972C>A (p.Tyr2264*) was detected in exon46 of the NF1 in the fetus, inherited from the mother maternal grandfather. The genetic testing results of the first sister and proband in this case were consistent, and the DUOXA2 and NF1 of the second sister were both wild-type. According to the ACMG guidelines, c.6972C>A (p.Tyr2264 *) was classified as pathogenic variant (PVS1+PS4_Supporting+PP4+PM2_Supporting). CONCLUSION The mutations in the DUOXA2 gene c.413dupA (p.Tyr138*) and c.573G>A (p.Trp191*), and the NF1 gene c.6972C>A (p.Tyr2264*) might be the genetic causes of TDH5 combined with familiar NF1 in proband. The discovery of the DUOXA2 gene c.573G>A (p.Trp191*) enriches the spectrum of pathogenic gene variations.
Humans ; Female ; Pedigree ; Pregnancy ; Neurofibromatosis 1/complications* ; Male ; Genetic Testing ; Adult ; Thyroid Dysgenesis/genetics* ; Fetus ; Exome Sequencing ; Mutation

OBJECTIVE: To determine the carrier rate for thalassemia mutations in the ethnic Miao population of Qianxinan Prefecture. METHODS: Ethnic Miao people suspected for thalassemia trait at the People's Hospital of Qianxinan Prefecture, Guizhou Province between November 2020 to September 2024 were selected as the study subjects. Gap-PCR technology combined with high-throughput sequencing was used to screen a total of 666 individuals. ArcMap v10.8.2 was used to create a spatial distribution map of thalassemia based on the screening results. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2016-01). RESULTS: In total 254 positive cases were detected, with an overall positive rate of 38.14%. Among these, 173 cases were α-thalassemia (25.98%), 77 cases were β-thalassemia (11.56%), and 4 cases were αβ compound thalassemia (0.60%). The most common genotypes for α-thalassemia were αα/--^SEA (positive rate = 10.06%, accounting for 38.73%), αα/-α^3.7 (positive rate = 8.86%, accounting for 34.10%), and α^CSα/αα (positive rate = 4.95%, accounting for 19.08%). The most common genotypes for β-thalassemia were β^41/42(-TTCT)/β^A (positive rate = 5.11%, accounting for 44.16%) and β^{17 (A>T)}/β^A(positive rate = 4.20%, accounting for 36.36%), with these two genotypes accounting for as much as 80.52%. The spatial distribution map indicated that the highest overall detection rate of thalassemia and α-thalassemia in the Miao population of Qianxinan Prefecture was in Xingyi City. The highest detection rate of β-thalassemia was in Zhenfeng County, and the highest detection rate of αβ compound thalassemia was in Wangmo County. CONCLUSION The detection rate of thalassemia among the ethnic Miaos from Qianxinan Prefecture is relatively high, which primarily consisted of α-thalassemia. Regular monitoring and educational outreach should be conducted.
Humans ; China/ethnology* ; Female ; Male ; Genetic Testing ; Adult ; alpha-Thalassemia/genetics* ; Thalassemia/ethnology* ; Ethnicity/genetics* ; Genotype ; beta-Thalassemia/ethnology* ; Adolescent ; Mutation ; Middle Aged ; Child ; Asian People/genetics* ; Young Adult

To construct a recombinant fowl adenovirus 4(FAdV-4)expressing the Cap protein of goose astrovirus genotype 2(GoAstV-2),the expression cassette of Cap gene was inserted into the natural 1 966 bp deletion region of the FAdV-4 genome in the infectious clone p15A-cm-FAdV4-HNJZ.The resulted recombinant plasmid p15A-cm-FAdV4-HNJZ-Cap/GoAstV-2 was linearized with restriction enzyme and transfected into chicken hepatoma cell line(LMH)to rescue the recombinant FAdV-4 expressing the Cap protein of GoAstV-2,rF Ad V4-Cap/GoAstV-2.After 15 passages in LMH cells,the recombinant rFAdV4-Cap/GoAstV-2 was identified by PCR using primers flanking the insertion site of the Cap gene expression cassette and using viral genome DNA extracted from rFAdV4-Cap/GoAstV-2 infected LMH cells as template.LMH cells were in-fected with 15th passage rFAdV4-Cap/GoAstV-2 and indirect immunofluorescence was performed with a polyclonal antibody against Cap protein as the primary antibody.Western blot was carried out with lysates of rFAdV4-Cap/GoAstV-2 infected LMH cells.The in vitro replication dynamic of the 15th passage of the rFAdV4-Cap/GoAstV-2 was also investigated in LMH cells.The results demonstrated that the Cap gene of GoAstV-2 was presented in the genome of the recombinant vi-rus rF AdV4-Cap/Go Ast V-2,and could be expressed stably.The prepared recombinant virus in this study will lay a foundation for developing inactivated bivalent vaccine candidate against co-in-fection of FAdV-4 and GoAstV-2 in goose.

Objective To explore the application value of three-dimensional T1-weighted multi-echo DIXON(3D-T1W-mDIXON)with three-dimensional T2-weighted driven imaging with variable excitation(3D-T2W-DRIVE)in unilateral vascular compressive hemifacial spasm(HFS),and to improve the accuracy of preoperative imaging diagnosis of microvascular decompression(MVD).Methods The clinical and imaging data of 235 patients with unilateral vascular compressive HFS treated with MVD from July 2018 to August 2024 in Xuzhou City Hospital of Traditional Chinese Medicine were analyzed retrospectively.Before MVD,3D-T1W-mDIXON and 3D-T2W-DRIVE sequence image,multiplanar reconstruction were used to analyze the spatial walking relationship between facial nerve and offending vessels.The differences between the affected side and the healthy side were compared,and then compared with the MVD;By using paired chi square test,image result of 3D-T1W-mDIXON combined with 3D-T2W-DRIVE sequence with either sequence alone were compared to evaluate the superiority of two combined sequences in the diagnosis of vascular compressive HFS.Results Among 235 cases HFS on the affected side,there were 149 cases of vascular compression and 68 cases with specific neurovascular contacts,and 15 cases with dubious contacts,with a positive rate of 92.34％;In the 235 cases HFS of the healthy side,there were 21 cases of vascular compression and 25 cases with specific neurovascular contacts,and 77 cases with dubious contacts,with a positive rate of 19.57％.By using the findings during facial nerve MVD procedure as the gold standard,the positive rate of diagnosing HFS using 3D-T1W-mDIXON combined with 3D-T2W-DRIVE sequence was 92.34％.The ability of 3D-T1W-mDIXON combined with 3D-T2W-DRIVE sequence to identify offending vessels(92.34％)is superior to using 3D-T1W-mDIXON sequence alone(83.00％,x2=9.52,P＜0.05)or using 3D-T2W-DRIVE sequence alone(86.38％,x2=4.30,P＜0.05).Conclusion 3D-T1W-mDIXON combined with 3D-T2W-DRIVE sequence image can clearly show the relationship between facial nerve and peripheral blood vessels,and the diagnostic efficacy is higher than that of any sequence alone,can provide better imaging evidence for clinical diagnosis and treatment of HFS.