Objective:To explore the clinical efficacy of the coblation resection of lingual thyroglossal duct cysts under self-retaining laryngoscopy. Methods:A retrospective analysis was conducted on the clinical data of 22 patients with lingual thyroglossal duct cysts admitted to our hospital from December 2016 to December 2023. There were 16 males and 6 females, aged 2 years to 12 years and 3 months（mean: 4 years 1 month; median: 3 years 3 months）. The lingual thyroglossal duct cysts were removed by coblation under self-retaining laryngoscopy. If the cysts could not be removed completely, the epithelial cells of the remaining cysts would be ablated. Results:There were 22 cases of lingual thyroglossal duct cysts，13 cases （59.1%） of lingual thyroglossal duct cysts had laryngeal stridor and dyspnea. The postoperative follow-up period is 3 months to 7 years. 11 cases （50.0%） underwent secondary laryngoscopic evaluation.There were 4 cases of recurrence （18.2%）, with no laryngeal obstruction,bleeding, or nerve damage. Conclusion:Laryngeal stridor and dyspnea are the main clinical symptoms of lingual thyroglossal duct cysts in children. The coblation resection of lingual thyroglossal duct cysts under self-retaining laryngoscopy is safe and effective. Cyst recurrence correlates strongly with residual cyst walls, emphasizing the need for enhanced intraoperative visualization and refined surgical precision.
Humans ; Thyroglossal Cyst/surgery* ; Male ; Female ; Child ; Retrospective Studies ; Child, Preschool ; Laryngoscopy/methods* ; Treatment Outcome ; Catheter Ablation/methods*

Objective:To explore the prevalence, clinical features, genetic characteristics and prognosis of Citrin deficiency in Henan province of China.Methods:A total of 986 565 neonates screened by tandem mass spectrometry at the Third Affiliated Hospital of Zhengzhou University from January 2013 to December 2021 were retrospectively analyzed. Analysis of SLC25A13 gene variants and parental verification were carried out for neonates suspected for Citrin deficiency by next-generation sequencing. The clinical, biochemical and genetic characteristics of Citrin deficiency patients were integrated to guide the diet treatment and follow up the growth and development. Paired- t test was used to compare the amino acid levels in the peripheral blood samples before and after the treatment. Results:Nine cases of Citrin deficiency were diagnosed among the 986 565 neonates. Specific elevation of citrulline was observed in all of the 9 cases. Six variants were detected by genetic sequencing, among which c. 852_855delTATG, c. 615+ 5G>A, c. 550C>T and IVS16ins3kb were known pathogenic variants, whilst c. 1111_1112delAT and c. 837T>A were unreported previously. The detection rate for c. 852_855delTATG was the highest (61.6%, 11/18), followed by IVS16ins3kb (16.7%, 3/18). The clinical symptoms of all patients were relieved after the treatment, and the blood amino acid profile and biochemical parameters were significantly improved by gradually falling within the normal range. By June 2022, all patients had shown a good prognosis.Conclusion:The prevalence of Citrin deficiency among neonates from Henan Province by tandem mass spectrometry is 1/109 618, and the carrier rate for the pathogenic variants of the SLC25A13 gene was 1/166. The c. 852_855delTATG may be a hot spot variant among the patients. Discovery of the novel variants has enriched the mutational spectrum of the SLC25A13 gene. Above results have provided a basis for the early diagnosis, treatment, prognosis and genetic counseling for the affected families.

The structure and biological function of CXCL12/CXCR4 are the basis of physiological and pathological function.Combination of HIV-1 envelope protein and CXCR4 will promote the entry of virus into host cells.CXCL12 can reduce the number of CXCR4 through rapid endocytosis and inhibit the replication and transmission of HIV.The interaction of CXCL12/CXCR4 axis with in-flammation and autophagy plays an important role in HIV infection.Previous research has found that gene expression profiles of differ-ent TCM syndromes of acquired immunedeficiency syndrome(AIDS)are different.CXCR4 has different expression in AIDS,lung and spleen qi deficiency syndrome,Qi Yin deficiency syndrome and dampness heat syndrome,which is related to chemokine signaling pathway;the differential gene CXCR4 in peripheral blood of AIDS patients with lung and spleen qi deficiency syndrome is related to au-tophagy process.According to the intervention of Yiaikang Capsule,CXCR4 expression is increased,indicating that Yiaikang Capsule can regulate the expression of autophagy related genes.Research on the role of CXCL12/CXCR4 in TCM syndromes of AIDS is condu-cive to better play the therapeutic advantages of TCM and provide a new direction for gene targeted therapy.

Objective:To investigate the prevalence, gene variation and prognosis of very long chain acyl CoA dehydrogenase deficiency (VLCADD) in newborns in Henan Province.Methods:From January 2013 to December 2019, 867 103 newborns were investigated for VLCADD by tandem mass spectrometry.Children who diagnosed as VLCADD and their families were subjected to next-generation sequencing and Sanger sequencing.Clinical data, biochemical changes and gene variation characteristics of the confirmed cases of VLCADD were analyzed.Dietary guidance was given, and their growth and development were followed up.Results:Six neonates were diagnosed as VLCADD, and the prevalence of VLCADD in the Henan Province was 1/144 517.A total of 11 mutations in the ACADVL gene were found, including 5 new variants c. 692-2_692-1delAG, c.753-23_753-22del, c.960delG, c.1361A>G, and c. 1955C>T.The newborns were given a high-carbohydrate, low-fat diet, and followed up for 8-56 months.Except for two deaths, all patients had a good outcome. Conclusions:The prevalence of neonatal VLCADD in Henan Province is 1/144 517.This results has enriched the ACADVL gene mutation spectrum and provided an important basis for the screening and diagnosis of VLCADD.

Objective:To analyze the variation and characteristics of gene mutation in patients with 6-pyruvoyltetrahydropterin synthase deficiency(PTPSD) in Henan province, and to provide the theoretical basis for early diagnosis, treatment, genetic consultation and prenatal diagnosis of PTPSD.Methods:One thousand nine hundred and six children with hyperphenylalaninemia (HPA) treated in Henan Neonatal Screening Center, the Third Affiliated Hospital of Zhengzhou University from January 1998 to December 2018 were included.Chemiluminescence was used for pheny-lalanine (Phe) detection in blood or dried blood spots.For patients with Phe concentration >120 μmol/L, urine pterin analysis was carried out, and the activity of dihydropteridine reductase (DHPR) was detected.Mutations of the PAH, GCH1, GFRP, PCBD1, PTPS and QDPR in 79 children with tetrahydrobiopterin deficiency(BH4D) were detected by using the high-throughput sequencing.All variations were verified by Sanger sequencing. Results:Among the 1 906 children, 79 cases were diagnosed as BH4D clinically, and they all were PTPSD.The incidence of PTPSD in HPA in Henan was 4.14%.One hundred and fifty-six out of 158 alleles in 79 children were detected, and the detection rate of gene mutation was 98.73%, 30 mutations were identified and most of the variants were located in exons 5(92/156 cases, 58.97%). Variants of c. 259C>T (61/156 cases, 39.10%), c.286G>A (17/156 cases, 10.90%), c.155A>G (13/156 cases, 8.33%) and c. 272A > G (10/156 cases, 6.41%) were more common.Six novel variations were detected, which included c. -77G>T, c.158A>G, c.262C>T, c.207G>A, c.316A>G and c. 332C>G; 38 genotypes had been identified, including 3 homozygous mutations and 33 compound heterozygous mutations.Conclusions:c. 259C>T is the hot-spots gene mutation in Chinese PTPSD patients in Henan province.The identification of 6 new mutations enriches the gene mutation profile.

ObjectiveTo investigate the clinical features of the two most common types of pyogenic liver abscess in clinical practice, Klebsiella pneumoniae liver abscess (KPLA) and Escherichia coli liver abscess (ECLA), and to provide a reference for early diagnosis and effective treatment. MethodsA retrospective analysis was performed for the clinical data of 371 patients with liver abscess who were admitted to The Second Affiliated Hospital of Air Force Medical University from March 2005 to July 2018, among whom 145 patients tested positive for pathogen. KPLA patients and ECLA patients were compared in terms of clinical features, laboratory examination, radiological examination, and prognosis. The t-test or the Mann-Whitney U test was used for comparison of continuous data between two groups, and the chi-square test or the Fisher’s exact test was used for comparison of categorical data between two groups. A multivariate logistic regression analysis was used to determine the influencing factors for prognosis. ResultsAmong the 145 patients that tested positive for pathogen, 66 tested positive for Klebsiella pneumonia and 42 tested positive for Escherichia coli. Compared with the KPLA patients, the ECLA patients tended to have an older age (t=-2.25, P=0.027), biliary diseases (χ2=10.019, P=0.002), a history of abdominal surgery (χ2=27.481, P＜0.001), tumor (χ2=17.745, P＜0.001), and a significantly higher proportion of individuals with recurrent liver abscess (χ2=13745, P＜0.001). KPLA was often observed in patients with diabetes (χ2=17.505, P＜0.001). As for laboratory examination, compared with the KPLA patients, the ECLA patients had a significant increase in total bilirubin (U=880.000, P=0.001) and significant reductions in albumin (t=-2.625, P=0.010) and platelet count (U=1719.000, P=0.036). Radiological examination showed that there was a higher proportion of patients with multiple liver abscess in ECLA (χ2=23.372, P＜0.001), while KPLA often had an abscess diameter of ＞5 cm (χ2=7.637, P=0.006). As for complications, the ECLA patients were more likely to develop pulmonary infection (χ2=18857, P＜0.001) and emphysema (P=0.013). ECLA patients were more likely to have multidrug-resistant organisms, and most patients were treated with antibiotics combined with ultrasound-guided percutaneous drainage in both groups. The multivariate logistic regression analysis showed that Acute Physiology and Chronic Health Evaluation Ⅱ score on admission (odds ratio=0.049, 95% confidence interval: 0.026-0.266, P＜0.001) was an influencing factor for prognosis. ConclusionECLA is commonly seen in elderly patients with biliary diseases, with easy recurrence, multiple abscesses on radiological examination, and a high proportion of pulmonary infection and emphysema. There is a high positive rate of extended-spectrum beta-lactamases produced by ECLA, and therefore, antibiotics should be used reasonably in the early stage.

Objective:To understand the clinical characteristics, change of liver function, influencing factors and prognosis in hospitalized patients with coronavirus disease-19 (COVID-19) combined with liver injury.Methods:The general conditions, biochemical indicators of liver, blood clotting mechanism, routine blood test, UGT1A1 * 28 gene polymorphism and other data of 40 cases with COVID-19 admitted to the isolation ward of Tangdu Hospital were retrospectively analyzed. The clinical characteristics, influencing factors and prognosis of liver injury in patients with liver injury group and those with normal liver function group were compared. The mean of two samples in univariate analysis was compared by t-test and analysis of variance. The counting data was measured by χ 2 tests. The non-normal distribution measurement data were described by the median, and the non-parametric test was used. Statistically significant influencing factors were used as the independent variables in univariate analysis. Multiple logistic regression analysis was used to analyze the main influencing factors of liver injury. Results:Of the 40 cases, 25 were male (62.5%) and 15 were female (37.5%), aged 22 to 83 (53.87 ± 15.84) years. Liver injury was occurred in 22 cases (55%) during the course of the disease. Alanine aminotransferase (ALT) and aspartate aminotransferase (AST) level was initially increased (4.4 to 3.5 times of the normal value) along with decrease of albumin in the second week, and the difference was statistically significant ( P < 0.001). Ten cases (43.5%) had highest abnormal total blood bilirubin (54.1 μmol/ L). There was no correlation between the increase in transaminase and the increase in total blood bilirubin ( R = -0.006, P = 0.972). Three cases had prothrombin activity (PTA) of ≤50%, 10 cases had elevated FDP, and 13 cases had elevated D-dimer, all of whom were severe or critically ill. Liver function injury was more likely to occur in patients who used many types of drugs and large amounts of hormones ( P = 0.002, P = 0.031), and there was no correlation with the TA6TA7 mutation in the UGT1A1 * 28 gene locus. Multiple regression analysis showed that the occurrence of liver injury was only related to critical illness. The liver function of all patients had recovered within one week after conventional liver protection treatment. Conclusion:COVID-19 combined with liver function injury may be due to the slight elevation of transaminase, mostly around the second week of the disease course. Severe patients have a higher proportion of liver injury, and critical type is an independent risk factor for liver injury.

Objective To compare the clinical effects of intravascular ultrasound (IVUS) and blood flow reserve fraction (FFR) in guiding the treatment of critical disease of coronary artery.Methods Forty nine patients with coronary artery disease who underwent coronary angiography were divided into IVUS group (n=43) and FFR group (n=51).In IVUS group,such as MLA ＜4 mm2 or coronary artery stenosis was insufficient,but IVUS showed unstable plaque,and we went the PCI treatment;in the FFR group,FFR＜0.75 was regarded as coronary stenting sign.The patients were followed up for 6 months.The incidence of cardiovascular adverse events was compared between the two groups.Results (1)There was no significant difference in general information and coronary angiography between the two groups (P＞ 0.05).(2)The proportion of interventional therapy in IVUS group was higher than that in FFR group (P＜0.01).(3)The incidence of adverse events between the two groups was not statistically significant (P＞0.05).Conclusion IVUS and FFR examination can be used to guide the interventional treatment of critical disease of coronary artery.However,the accuracy of IVUS can not replace the status of blood flow reserve.

OBJECTIVE To analyze trimethylation of genome-wide histone H3 lysine 4(H3K4met3) induced by silicon dioxide(SiO2)through chromatin immunoprecipitation linked to microarrays(ChIP-chip)in lung fibroblast(LF)of rats. METHODS A primary co-culture model of rat alveolar macrophages (AM)and LF in vitro. AM were exposed to 100 mg · L-1 free SiO2 for 24 h,before LF were collected and the phenotype of LF was determined after transdifferentiation by immunohistochemistry. ChIP-chip was used to profile the variations of trimethylation in H3K4 of lung fibroblasts in CpG island regions. ChIP-qPCR was used to validate the microarray results. The mRNA expression of nfib and kpna3 was analyzed by qRT-PCR. RESULTS Totally 1815 (518 increased and 1297 decreased) genes of H3K4met3 displayed significant differences in SiO2 100 mg·L-1 group compared with control group(Cy3/Cy5 value>2.0 or <0.5,NimbleScan V2.5 software). The results of ChIP-qPCR were quite consistent with those of microarray. CONCLUSION There are significant differences in methylation of genome-wide H3K4 between SiO2 100 mg·L-1 group and control group. These novel candidate genes may become potential biomarkers or new interfered targets.

This study was aimed to explore the characteristics of urine metabolomics among HIV/AIDS patients with spleen-lung qi-deficiency. H-NMR technique was combined with principal component analysis and cluster analysis in the comparison of urine metabolic products among 24 HIV/AIDS cases with spleen-lung qi-deficiency and 20 healthy control cases. The results showed that urine metabolic products of HIV/AIDS patients with spleen-lung qi-deficiency and healthy people by H-NMR technique detection and PLS-DA analysis can classify the outline of urine metabolites. There were about 20 variables in the difference between two groups. The speculated substances contained glycyl-L-leucine, L-valine, α-aminobutyric acid, methyl succinic acid, glycine propionyl, and etc. It was concluded that H-NMR technique was able to classify the outline of urine metabolites between HIV/AIDS cases with spleen-lung qi-deficiency and healthy people. Part of the potential existed characteristic markers contributed to the clinical diagnosis of traditional Chinese medicine (TCM) syndrome differentiation of AIDS. It had certain effect in its quantitative analysis.