AIM:To explore the efficacy and safe-ty of fecal microbiota transplantation combined with immune checkpoint inhibitors(ICIs)for malig-nant tumor patients with failed multi line anti-tu-mor treatment and concomitant cachexia,and to explore the changes in blood immunity and intesti-nal microbial environment in patients.METHODS:Five patients with malignant tumors who failed multi line anti-tumor treatment were enrolled and treated with ICIs combined with fecal microbiota transplantation.The efficacy was evaluated every 2-3 cycles,and adverse reactions were observed.Fe-cal 16srRNA gene sequencing and serum immuno-logical indicators were dynamically detected.RE-SULTS:Except for one patient who died 2.5 months after transplantation due to excessive tumor bur-den at enrollment,the overall survival of the re-maining four patients were extended(7.4,8.3,28.5,52.3 months).One patient with multiple intra-cranial metastases of lung adenocarcinoma signifi-cantly reduced the intracranial metastasis after in-testinal microbiota transplantation and almost dis-appeared.The serum IL-2,IL-10,TGF-β and other indicators of patients increased rapidly and then slowly decreased with the increase of transplanta-tion time,and finally were higher than before trans-plantation,with statistical differences.16srRNA gene sequencing analysis revealed significant differ-ences in the overall distribution of gut microbiota in patients after transplantation,gradually ap-proaching healthy transplant donors.All patients did not experience grade 2 or above adverse reac-tions,and the safety was good.CONCLUSION:For patients with malignant tumors,the combination of fecal microbiota transplantation and immuno-therapy may improve their quality of life,serum im-mune environment,and intestinal microbiota com-position,have a positive impact on survival progno-sis,and are safe and controllable,opening up new treatment methods for end-stage patients.

Objective:To compare the cardiac size，morphology，and function between anemic and normal fetuses using a hybrid artificial intelligence（AI）model，and to evaluate the utility of AI in quantitatively assessing fetal cardiac function in cases of anemia.Methods:A retrospective study was conducted by collecting data from 2018 to 2024 at the Seventh Affiliated Hospital of Sun Yat-sen University，including 15 cases of anemic fetuses（anemia group）diagnosed through umbilical venous puncture and 32 cases of normal fetuses（control group）. Four-chamber fetal cardiac ultrasound videos and left/right ventricular segments were included，with 44 videos and 1 056 segments in the anemia group，and 46 videos and 1 104 segments in the control group. Based on dynamic four-chamber heart images，the hybrid AI model was employed to extract heart measurement parameters，including basal-apical length（BAL），transverse width（TW），global sphericity index（GSI），end-diastolic area（EDA），24-segment left and right ventricular end-diastolic diameter（LVEDD，RVEDD），segmental sphericity index（LVSI，RVSI），global longitudinal strain（LVGLS，RVGLS），fractional area change（LVFAC，RVFAC），segmental fractional shortening（LVFS，RVFS），along with their corresponding Z-scores. The differences in cardiac size，morphology，and function parameters between the two groups were compared. Pearson correlation analysis was performed for the parameters of the control group（BAL，TW，EDA，GLS，LVGLS，RVGLS，LVFAC，and RVFAC）against gestational age. The measurement consistencies of AI technology and fetal HQ technology in normal and anemia groups were evaluated.Results:No significant differences were found in BAL，TW，EDA，or GSI between groups（all P>0.05）. RVEDD in segments 3-24 was significantly larger in the anemia group（all P<0.05），with significantly higher Z-score abnormality rates for LVEDD and RVEDD across 24 segments（both P<0.001）. LVSI in segments 7-10，12，14-15 and RVSI in segments 1-23 were lower in the anemia group（all P<0.05），with significantly higher Z-score abnormality rates for LVSI and RVSI across 24 segments（both P<0.001）. The absolute values of LVGLS and LVFAC were significantly reduced in the anemia group（both P<0.05），while the absolute values of RVGLS and RVFAC showed no significant differences（both P>0.05）. Segmental LVFS values were significantly lower in the anemia group for segments 2，5-8，11-13（all P<0.05）. In the control group，BAL，TW，and EDA positively correlated with gestational age（ r=0.913，0.947，0.907；all P<0.001），while GSI，LVGLS，RVGLS，LVFAC and RVFAC showed no or weak correlations（ r=-0.221，0.353，0.515，-0.409，-0.425）. The intraclass correlation coefficient（ICC）between AI-based and conventional fetal HQ evaluations were 0.788 for the control group and 0.837 for the anemia group，indicating good consistency. Conclusions:AI offers a reliable approach for quantitatively evaluating fetal cardiac size，shape，and systolic function. Fetal anemia primarily affects right ventricular morphology and left ventricular systolic performance，characterized by spherical remodeling of the right ventricle and reductions in LVGLS，LVFAC，and segmental LVFS. The hybrid AI model holds potential value in fetal cardiac function assessment.

AIM:To explore the efficacy and safe-ty of fecal microbiota transplantation combined with immune checkpoint inhibitors(ICIs)for malig-nant tumor patients with failed multi line anti-tu-mor treatment and concomitant cachexia,and to explore the changes in blood immunity and intesti-nal microbial environment in patients.METHODS:Five patients with malignant tumors who failed multi line anti-tumor treatment were enrolled and treated with ICIs combined with fecal microbiota transplantation.The efficacy was evaluated every 2-3 cycles,and adverse reactions were observed.Fe-cal 16srRNA gene sequencing and serum immuno-logical indicators were dynamically detected.RE-SULTS:Except for one patient who died 2.5 months after transplantation due to excessive tumor bur-den at enrollment,the overall survival of the re-maining four patients were extended(7.4,8.3,28.5,52.3 months).One patient with multiple intra-cranial metastases of lung adenocarcinoma signifi-cantly reduced the intracranial metastasis after in-testinal microbiota transplantation and almost dis-appeared.The serum IL-2,IL-10,TGF-β and other indicators of patients increased rapidly and then slowly decreased with the increase of transplanta-tion time,and finally were higher than before trans-plantation,with statistical differences.16srRNA gene sequencing analysis revealed significant differ-ences in the overall distribution of gut microbiota in patients after transplantation,gradually ap-proaching healthy transplant donors.All patients did not experience grade 2 or above adverse reac-tions,and the safety was good.CONCLUSION:For patients with malignant tumors,the combination of fecal microbiota transplantation and immuno-therapy may improve their quality of life,serum im-mune environment,and intestinal microbiota com-position,have a positive impact on survival progno-sis,and are safe and controllable,opening up new treatment methods for end-stage patients.

Objective:To compare the cardiac size，morphology，and function between anemic and normal fetuses using a hybrid artificial intelligence（AI）model，and to evaluate the utility of AI in quantitatively assessing fetal cardiac function in cases of anemia.Methods:A retrospective study was conducted by collecting data from 2018 to 2024 at the Seventh Affiliated Hospital of Sun Yat-sen University，including 15 cases of anemic fetuses（anemia group）diagnosed through umbilical venous puncture and 32 cases of normal fetuses（control group）. Four-chamber fetal cardiac ultrasound videos and left/right ventricular segments were included，with 44 videos and 1 056 segments in the anemia group，and 46 videos and 1 104 segments in the control group. Based on dynamic four-chamber heart images，the hybrid AI model was employed to extract heart measurement parameters，including basal-apical length（BAL），transverse width（TW），global sphericity index（GSI），end-diastolic area（EDA），24-segment left and right ventricular end-diastolic diameter（LVEDD，RVEDD），segmental sphericity index（LVSI，RVSI），global longitudinal strain（LVGLS，RVGLS），fractional area change（LVFAC，RVFAC），segmental fractional shortening（LVFS，RVFS），along with their corresponding Z-scores. The differences in cardiac size，morphology，and function parameters between the two groups were compared. Pearson correlation analysis was performed for the parameters of the control group（BAL，TW，EDA，GLS，LVGLS，RVGLS，LVFAC，and RVFAC）against gestational age. The measurement consistencies of AI technology and fetal HQ technology in normal and anemia groups were evaluated.Results:No significant differences were found in BAL，TW，EDA，or GSI between groups（all P>0.05）. RVEDD in segments 3-24 was significantly larger in the anemia group（all P<0.05），with significantly higher Z-score abnormality rates for LVEDD and RVEDD across 24 segments（both P<0.001）. LVSI in segments 7-10，12，14-15 and RVSI in segments 1-23 were lower in the anemia group（all P<0.05），with significantly higher Z-score abnormality rates for LVSI and RVSI across 24 segments（both P<0.001）. The absolute values of LVGLS and LVFAC were significantly reduced in the anemia group（both P<0.05），while the absolute values of RVGLS and RVFAC showed no significant differences（both P>0.05）. Segmental LVFS values were significantly lower in the anemia group for segments 2，5-8，11-13（all P<0.05）. In the control group，BAL，TW，and EDA positively correlated with gestational age（ r=0.913，0.947，0.907；all P<0.001），while GSI，LVGLS，RVGLS，LVFAC and RVFAC showed no or weak correlations（ r=-0.221，0.353，0.515，-0.409，-0.425）. The intraclass correlation coefficient（ICC）between AI-based and conventional fetal HQ evaluations were 0.788 for the control group and 0.837 for the anemia group，indicating good consistency. Conclusions:AI offers a reliable approach for quantitatively evaluating fetal cardiac size，shape，and systolic function. Fetal anemia primarily affects right ventricular morphology and left ventricular systolic performance，characterized by spherical remodeling of the right ventricle and reductions in LVGLS，LVFAC，and segmental LVFS. The hybrid AI model holds potential value in fetal cardiac function assessment.

Objective To investigate the impact of anemia and chronic kidney disease(CKD)on the prognosis of elderly patients with HFpEF.Methods A retrospective cohort study was conducted on 224 very old patients(age ≥80 years)with HFpEF admitted to Department of General Medi-cine of No.960 Hospital of PLA Joint Logistics Support Force from January 2016 to March 2023.According to their estimated glomerular filtration rate(eGFR)and hemoglobin level at admis-sion,they were divided into non-CKD+non-anemia group(88 cases),CKD group(14 cases),ane-mia group(79 cases)and CKD+anemic group(43 cases).The patients in the anemic group were further divided into mild(67 cases)and moderate-to-severe anemia subgroups(12 cases),and those of the CKD+anemia group were divided into CKD+mild anemia subgroup(31 cases)and CKD+moderate anemia subgroup(12 cases).The endpoints of follow-up included all-cause death,cardiovascular death and the end of follow-up.The relationships of CKD and anemia with progno-sis in elderly HFpEF patients were analyzed.Results During the follow-up period,all-cause mor-tality occurred in 100 patients(44.6％)and cardiovascular death in 32 patients(14.3％).Kaplan-Meier survival curve analysis showed that the CKD+anemia group had significantly higher rates of all-cause and cardiovascular death than the non-CKD+non-anemia,CKD and anemia groups(P＜0.01).Cox regression analysis indicated that the risk of all-cause mortality and cardiovascu-lar mortality was significantly higher in the CKD+moderate anemia subgroup than the non-CKD+non-anemia group(HR=6.43,95％CI:2.82-14.68,P=0.000;HR=10.63,95％CI:2.17-51.95,P=0.004).The risk of cardiovascular death was obviously higher in the moderate-to-severe anemia subgroup than in the non-CKD+non-anemia group(HR=4.96,95％CI:1.19-20.72,P=0.028).Conclusion Moderate-to-severe anemia is an independent risk factor for cardiovascular death in elderly HFpEF patients,and CKD complicated with moderate anemia significantly increa-ses the risk of all-cause mortality and cardiovascular death in elderly HFpEF patients.

Objective : To clarify the targeted regulatory relationship between long non-coding RNA ( lncRNAs) lnc-CCDC117-1 and oncogenic transcription factor c-Myc，and to explore the effect of lnc-CCDC117-1 knockdown and overexpression on the development of tongue squamous cell carcinoma cells． Methods : Lentiviral vectors car- rying flag-c-Myc，plko．1-shc-Myc and their controls were transfected into HN6，SCC9 and CAL27 cells respective- ly，and real-time quantitative PCR(qRT-PCR) was used to detect the expression of lnc-CCDC117-1．In addition， the intracellular localization of lnc-CCDC117-1 was detected by fluorescence in situ hybridization．On this basis，the lnc-CCDC117-1 expression vector and knockdown vector were constructed and transfected with HN6 ，SCC9， CAL27 cells，CCK-8 method，cloning and formation to verify the proliferation of tongue squamous cell. Results: LncRNAs positively regulated by c-Myc were initially screened by gene chip technology．After overexpression or c- Myc knockdown in tongue squamous cell HN6，these lncRNAs were verified to be consistent with the results of the chip，and the expression difference of lnc-CCDC117-1 was found to be the most significant．qRT-PCR test showed that c-Myc had a positive regulatory effect on lnc-CCDC117-1．When c-Myc was overexpressed，the expression of lnc-CCDC117-1 could be significantly up-regulated．lnc-CCDC117-1 expression was significantly down-regulated by c-Myc knockdown．Dual luciferase reporter genes showed that c-Myc could target the regulation of lnc-CCDC117-1， and c-Myc was involved in regulating and enhancing the transcriptional activity of lnc-CCDC117-1．lnc-CCDC117- 1 mainly existed in the nucleus of the cell．qRT-PCR results showed that the expression of lnc-CCDC117-1 and c- Myc significantly decreased by sh-lnc-CCDC117-1．The expression of lnc-CCDC117-1 was significantly up-regula- ted by + lnc-CCDC117-1．The results of growth curve assay，CCK-8 assay，cell scratch assay and cloning forma- tion showed that overexpression of lnc-CCDC117-1 significantly promoted the proliferation and migration of tongue squamous cell cells，while knockdown of lnc-CCDC117-1 could inhibit the growth and proliferation of tongue squa- mous cell carcinoma cells． Conclusion lnc-CCDC117-1 is positively regulated by c-Myc，and overexpression of lnc-CCDC117-1 can promote cell proliferation，on the contrary，inhibit cells growth.

Objective This study focused on the application regularity of medicinal and dietary substances (MDS) of traditional Chinese medicine (TCM) diet therapy during rehabilitation, in order to help patients with Corona Virus Disease 2019 (COVID-19) reduce sequelae and improve their life quality. Methods The official websites of the national and provincial health committees, the website of the National Administration of Traditional Chinese Medicine, the China BioMedical Literature Database (CBM), China National Knowledge Infrastructure (CNKI), China Science and Technology Journal Database (VIP), and Wanfang Database were used to search the keywords, such as “coronavirus” “novel coronavirus pneumonia” “COVID-19” “protocol” “guideline” “consensus” and “rehabilitation period”. The search time was from the establishment of databases to July 31, 2022. The prevention and control protocols of various provinces and cities were manually supplemented and screened out. The information on the frequency, property, flavor, meridian tropism, and efficacy of MDS was collected for association rule analysis through the Apriori algorithm. Hierarchical cluster analysis was performed using the Euclidean distance and longest distance. Results A total of 18 protocols were screened out, including 56 lists of TCM diet therapy, and 47 kinds of MDS with a frequency of 132 times during the rehabilitation of COVID-19. Among them, six lists of diet therapy were collected from national websites, 26 from local government websites, and 24 from social and academic institution websites. The intended population can be divided into seven categories including normal recovery, lung-spleen Qi deficiency, deficiency of both Qi and Yin, spleen-stomach weakness, deficiency of Yang Qi, kidney Qi deficiency, and blood deficiency. Shanyao (Dioscoreae Rhizoma) and Lianzi (Nelumbinis Semen), followed by Dazao (Jujubae Fructus) were used most commonly in MDS, with mainly flat property, sweet flavor, and spleen and lung meridians in meridian tropism. Besides, deficiency-tonifying drugs were commonly used in MDS. Through association rule analysis, 12 groups of association MDS pairs were obtained. The pair of Yiyiren (Coicis Semen) and Chenpi (Citri Reticulatae Pericarpium) had the highest Lift value, and Yiyiren (Coicis Semen) was used most frequently in the MDS category for eliminating pathogenic factors. The results of complex network analysis showed that the core MDS were Yiyiren (Coicis Semen), Shanyao (Dioscoreae Rhizoma), Huangqi (Astragali Radix), Fuling (Poria), and Dazao (Jujubae Fructus). Three core categories were classified by cluster analysis, including the category of strengthening spleen, nourishing kidney, and grasping Qi, the category of removing phlegm, abating panting, and regulating Qi, and the category of strengthening the middle-energizer and reinforcing Qi. Conclusion Based on the TCM theory, most patients during the rehabilitation of COVID-19 are in a state of lingering pathogens due to deficient vital Qi. TCM diet therapy is based on the principle of “giving both reinforcing and reducing treatment”, and the MDS combinations focus on both reinforcing the health Qi and eliminating pathogenic factors. The diet therapy mainly uses the MDS with flat property and sweet flavor, which belongs to deficiency-tonifying drugs, adding suitable MDS of pathogen-eliminating drugs according to different situations. The ultimate goal is to promote lung inflammation absorption, improve pulmonary fibrosis, increase immunity, reduce the occurrence of sequelae, and improve life quality.

OBJECTIVETo explore clinical features and mutation types in patients from Fujian area with glutaric academia type I(GA I).

METHODSSerum acylcarnitine and urine organic acid of 3 patients were determined with tandem mass spectrometry and gas chromatographic mass spectrometry. The patients also underwent magnetic resonance imaging analysis for the cranial region. Genomic DNA was extracted from peripheral blood samples, and the 12 exons and flanking regions of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing. One hundred healthy newborns were used as controls.

RESULTSMutations of the GCDH gene were identified in all of the 3 patients. Two patients have carried compound heterozygous mutations including c.1244-2A>C and c.1147C>T(p.R383C), c.406G>T(p.G136C) and c.1169G>A(p.G390E), respectively. One has carried homozygous c.1244-2A>C mutation. The same mutations were not detected among the 100 healthy newborns. Only one patient received early intervention and did not develop the disease. The other two had irreversible damagesto their intelligence.

CONCLUSIONc.1169G>A(p.G390E) is likely pathogenic mutations for GA I patients from Fujianarea. Early screening of neonatal metabolic diseases is crucial for such patients.

OBJECTIVETo assess the frequencies of CYP21A2 gene mutations among patients from Fujian area with classical 21-hydroxylase deficiency.

METHODSFor 19 probands from different families affected with classical steroid 21-hydroxylase deficiency and 74 family members, mutations of the CYP21A2 gene were analyzed with combined nested polymerase chain reaction, Sanger sequencing and multiplex ligation-dependent probe amplification. Time resolved fluorescence immunoassay was performed to determine the level of 17-hydroxyprogesterone (17-OHP) in all family members. Clinical data and laboratory results of the probands and their family members were analyzed.

RESULTSEleven mutations were identified among the 38 alleles from the 19 probands. 92.1% (35/38) of the mutant CYP21A2 alleles were due to recombination between CYP21A2 and CYP21A1P. Gene conversion and deletions were identified in 84.2% (32/38) and 7.9% (3/38) of the alleles, respectively. IVS2-13A/C>G and chimeras were the most common mutations, which respectively accounted for 34.2% (13/38) and 18.4% (7/38) of all mutant alleles. Among these, IVS2+1G>A and Q318X+356W were first reported in China. 74.3% (55/74) of the family members were carriers of heterozygous mutations. However, no significant difference was found in the 17-OHP levels between carriers and non-carriers (P>0.05).

CONCLUSIONThere seems to be a specific spectrum of CYP21A2 gene mutations in Fujian area, where IVS2-13A/C>G and chimeras are the most common mutations.

Adrenal Hyperplasia, Congenital ; genetics ; Alleles ; Female ; Humans ; Male ; Mutation ; genetics ; Steroid 21-Hydroxylase ; genetics

OBJECTIVE:To optimize the inclusion technology of Eugenol-β-cyclodextrin (β-CD) inclusion complex,and to identify and characterize it. METHODS:With the molar ratio of eugenol to β-CD,inclusion temperature and inclusion time as fac-tors,using the yield of inclusion compounds as index,the inclusion technology was optimized by orthogonal test. The formation of inclusion compound was identified by the spectra change of FT-IR,XRD and 1H NMR. Its structure was characterized by 1H RO-ESY NMR. RESULTS:The optimized inclusion conditions were that the molar ratio of eugenol to β-CD was 1.0:1;inclusion tem-perature was 60 ℃;inclusion time was 2.0 h. And the yield of inclusion compound was 73.86%(RSD=0.17%,n=3). 1H NMR results ofβ-CD and its inclusion complex indicated that the optimum qualitative ratio of the inclusion complex was 1.0:1. The inter-molecular interaction between eugenol and β-CD was confirmed by the spectrum analysis of FT-IR and XRD. 1H ROESY NMR re-sults indicated the structure of inclusion complex mainly was that the phenyl of eugenol was in the cavity of β-CD,the vinyl was outside. CONCLUSIONS:The inclusion technology is reasonable and feasible,and can be used for the inclusion of eugenol andβ-CD. The formation of inclusion compound is confirmed by the spectrum analysis.