Objective:To explore the clinical characteristics and pathogenic variant in a child with Cantú syndrome (CS).Methods:A male who was admitted to the Children′s Hospital Affiliated to Zhengzhou University on February 23, 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and subjected to whole-exome sequencing (WES). Candidate variant was verified by Sanger sequencing. This study was approved by Medical Ethics Committee of the Children′s Hospital Affiliated to Zhengzhou University (Ethics No. 2023-K-087).Results:The child, a 3-year-and-2-month-old male, was born with hirsutism, with heavy hair all over the body and peculiar facial features. Routine echocardiography 1 month before had discovered atrial septal defect. Sequencing revealed that the child has harbored a heterozygous c. 2438G>C (p.S813T) variant of the ABCC9 gene, which was de novo in origin. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c. 2438G>C variant was classified as likely pathogenic (PS2+ PM2_Supporting+ PP3). Conclusion:The heterozygous c. 2438G>C variant of the ABCC9 gene probably underlay the pathogenesis of CS in this child.

The autolysis of brewer's yeast seriously affects the quality of beer and the quality of yeast is considered as one of the key factors in beer brewing. Previous studies on brewer's yeast autolysis showed that RLM1 gene, an important transcription factor in cell integrity pathway, is closely related to the autolysis of yeast. In this study, RLM1 was knocked out and overexpressed in a haploid brewer's yeast. RLM1 disruption resulted in poor anti-autolysis performance of yeast, whereas overexpression of RLM1 contributed to the anti-autolytic ability of yeast. In addition, RLM1 gene knockout affected the osmotic stress resistance, cell wall damage resistance, nitrogen starvation resistance and temperature tolerance of yeast strain. The transcriptional level of GAS1 involved in cell wall assembly and DNA damage response was regulated along with the expression of RLM1, whereas other genes in CWI pathway did not show apparent regularity. RLM1 might mainly affect the expression of GAS1 so as to improve the stress resistance of lager yeast in harsh environment. The result from this study help further understand the mechanism of yeast autolysis and lay a foundation for breeding brewer's yeast strain with better anti-autolytic ability.
Autolysis ; Beer ; Cell Wall ; Humans ; MADS Domain Proteins ; Saccharomyces cerevisiae ; Saccharomyces cerevisiae Proteins

Objective To investigate the relationship between peripheral blood mtDNA content and acute coronary syndrome. Methods A total of 244 patients who received coronary angiography(CAG)was enrolled in this study. They were divided into acute coronary syndrome(ACS)group(n=183)and control group(n=61)ac-cording to the CAG results. A quantitative real-time PCR-based method was used to measure relative content of mtDNA in peripheral blood. According to lesion blood vessel counts ,ACS patients were divided into single lesion group,double lesion group and three lesions group. Gensini score was used to quantitatively evaluate the severity of coronary stenotic lesions. Then we analyzed the relationship of mitochondrial DNA content with the lesion counts and the Gensini score. Results The ACS group had a lower mtDNA content ,as compared to controls (P <0.001).The lesion blood vessel count and mtDNA content in the single ,double and three vascular lesions group were all significanlty lower than that of the control group(P<0.05)and that of the double,three vascular lesions group were both significantly lower than that of the single vascular lesion group(P<0.05). According to the Gensi-ni score,all patients were divided into four groups,where with mtDNA content was decreased with the increase of the Gensini score(P < 0.01). The linear regression analysis showed that Gensini score was negatively correlated with mtDNA content(r=-0.644,P<0.001). ROC curve analysis showed that the area under the curve of mtDNA content for ACS diagnosis was 0.855(P<0.001),with the sensitivity and specificity of 0.756 and 0.833,respec-tively. Conclusion MtDNA content is closely associated with ACS and the Gensini score ,the latter indicating the severity of coronary stenotic lesions. MtDNA content detection has its value in the diagnosis of ACS.

Objective To establish the subcutaneous transplantation tumor models with Lewis lung adenocarcinoma in C57BL/6 mice, and to observe the influence of oHSV2, DDP and drug combination on tumor volume, median survival time and weight of tumor-burdened mice.Methods Subcutaneous transplantation tumor models were established with Lewis lung adenocarcinoma in tumor-burdened mice.Tumor-burdened mice were randomly divided into the control group, oHSV2 group, DDP group, oHSV2/DDP sequential group, DDP/oHSV2 sequential group and oHSV2+DDP combination group with 12 rats in each group using the random number table method.The tumor size and weight of mice were measured every 3 days.Results On the 21st day, the tumor size of tumor-burdened mice in every group was as follows: control group (1.82±0.06)cm3, oHSV2 group (0.63±0.05)cm3, DDP group (0.58±0.03)cm3, oHSV2/DDP sequential group (0.49±0.05)cm3, DDP/oHSV2 sequential group (0.42±0.04)cm3, and the difference was statistically significant (F=1 359.01, P=0.000).The data in oHSV2+DDP group were put away because of premature death in mice.The differences were statistically significant between control group and oHSV2 group (P=0.000), control group and DDP group (P=0.000), control group and oHSV2/DDP sequential group (P=0.000), control group and DDP/oHSV2 sequential group (P=0.000), oHSV2 group and DDP group (P=0.017), DDP group and DDP/oHSV2 sequential group (P=0.000), oHSV2/DDP sequential group and DDP/oHSV2 sequential group (P=0.001).The weight of tumor-burdened mice in every group was listed as follows: control group (21.64±0.40)g, oHSV2 group (21.34±0.37)g, DDP group (15.96±0.43)g, oHSV2/DDP sequential group (19.04±0.31)g, DDP/oHSV2 sequential group (16.34±0.30)g, and the difference was statistically significant (F=588.67, P=0.000).The difference was not statistically significant between control group and oHSV2 group (P=0.076).However, the differences were statistically significant between control group and DDP group (P=0.000), control group and oHSV2/DDP sequential group (P=0.000), control group and DDP/oHSV2 sequential group (P=0.000), oHSV2 group and DDP group (P=0.000), oHSV2 group and oHSV2/DDP sequential group (P=0.000), DDP group and DDP/oHSV2 group (P=0.013), oHSV2/DDP sequential group and DDP/oHSV2 sequential group (P=0.000).The median survival time of tumor-burdened mice in every group was displayed as follows: control group 23 d , oHSV2 group 32 d, DDP group 30 d, oHSV2/DDP sequential group 37 d, DDP/oHSV2 sequential group 39 d, oHSV2+DDP combination group 16 d, and the difference was statistically significant (χ2=120.81, P=0.000).The differences were statistically significant between control group and oHSV2 group (χ2=10.88, P=0.001), control group and DDP group (χ2=10.69, P=0.001), oHSV2 group and DDP/oHSV2 sequential group (χ2=10.09, P=0.001), DDP group and DDP/oHSV2 sequential group (χ2=9.67, P=0.002).However, the differences were not statistically significant between oHSV2 group and DDP group (χ2=0.00, P=0.996), oHSV2/DDP sequential group and DDP/oHSV2 sequential group (χ2=2.70, P=0.100).Conclusion On the premise of that the weight of mice is no affected, oHSV2 can inhibit the tumor size and prolong the median survival time of tumor-burdened mice effectively, and the effect of DDP/oHSV2 sequential group is the most significant.This article provides an experimental basis for exploring therapeutic methods of lung adenocarcinoma.

Objective To investigate the safety of thyroid gland resection and primary resection in the treatment of thyroid nodule and its influence to thyroid function.Methods 86 patients with thyroid nodules were selected as the research subjects.The patients were randomly divided into two groups.43 cases in the observation group implemented the thyroid gland resection treatment.43 cases in the control group received thyroid gland subtotal resection.The curative effect,safety,thyroid function and other indicators were compared between the two groups.Results The operation time and hospitalization time in the observation group after operation[(105.65 ± 12.54)min;(6.35 ± 2.01)d]were shorter than those in the control group[(149.41 ± 13.68)min;(9.62 ± 2.45)d].The amount of bleeding during operation in the control group [(134.51 ± 9.64) mL] was significantly higher than the observation group [(84.62 ± 6.35) mL],there was significant difference between the two groups (P ＜ 0.05).The total effective rate of the observation group was 95.55％,which was significantly higher than 72.09％ in the control group,the difference was statistically significant (P ＜ 0.05).Before operation,the between the two groups had no significant difference (P ＞ 0.05).After surgical treatment,serum FT3 and serum FT4 levels in two groups were decreased,but those in the observation group[(11.62 ± 3.02),(51.24 ± 7.25)pmol/L] were significantly lower than the control group [(14.14 ± 5.11) pmoL/L;(60.52 ± 6.35) pmol/L],there were obvious differences (P ＜ 0.05).The incidence rate of complications such as throat edema,hemorrhage,postoperative hoarseness in the observation group was 9.30％,which in the control group was 23.26％,the difference was statistically significant (P ＜ 0.05).Conclusion The thyroid gland resection therapy for thyroid nodules has high safety and significant curative effect,it can quickly improve the thyroid function,reduce relapse rate,has higher application value in benign and malignant tumors indistinguishable after surgery.It can reduce the length of stay in hospital,is conducive to the recovery of patients,it is worthy of clinical promotion.

Objective To discuss the effect of rehabilitation nursing for total knee arthroplasty by discussing hospitalization expenses and its factors of rehabilitation nursing.Methods 305 patients who were underwent total knee arthroplasty from 2011 to 2013 were recruited and recovered according to rehabilitation nursing and training requirements established by our hospital.Patients admitted in 2011 were designated as control group.The comparison of American knee society knee score and knee rang of motion of patients were made and analyzed.Results The annual comparison of sores of pre-and post-operative KSS (t=5.30,7.99,11.20),and knee ROM of patients (t=8.21,4.57,7.86) showed that the difference was statistically significant (P＜0.05).The total costs and rehabilitation nursing expenses inreased year by year (P＜0.05).The proportion of rehabilitation and rehabilitation nursing expenses each year were 5.77％ (3 157/54 679),4.60％ (2 847/61 831),5.15％ (3 341/64 930) and 0.51％ (280/54 679),0.64％ (393/61 831),0.52 ％(338/64 930),respectively.Conclusions Pre-and post-operative correct rehabilitation exercises are one of the most important guarantee of curative effect.There is a lower percentage of rehabilitation nursing expenses in total costs,and the value of the nursing staff has not been fully reflected.

Objectives To investigate the rational treatment strategy of hepatoblastoma (HB) in children. Methods Clinical data and follow-up of 25 children with HB admitted from February 2009 to March 2013 were retrospectively analyzed. Results Twenty-five children with newly diagnosed HB (14 males and 11 females) were enrolled. The median age on diagnosis was 25 months (3-92 months);In 18 of 25 cases with complete resection of the primary tumor, 17 cases survived. Only 1 of 7 cases with incomplete resection survived. The survival rate in children with complete resection of primary tumor is significantly higher than those without complete resection (P<0.05). The survival rate in children of stage I or II is significantly higher than the children of stage III or IV (P<0.05). Conclusions Complete tumor resection is the cornerstone of therapy for long-term disease-free survival in HB patients. Treatment strategy remains to be further improved for children with recurrent and metastatic HB.

Objective To lateralize epileptic foci in interictal electroencephalography (EEG) signal by using causal analysis method.Methods On the basis of frequency domain causal analysis,the adapted directed transfer function (ADTF),power spectrum weighted ADTF(psADTF) method was proposed by applying the power spectrum information in defined frequency band with normalized ADTF,to fit the frequency information features of different epileptic wave.EEG signals of two groups of 30 epilepsy patients were analyzed by psADTF.Group Ⅰ included 15 presurgical patients and 104 epilepsy spikes were picked from EEG signals.Group Ⅱ included 15 outpatient patients and 98 epilepsy spikes were picked from EEG signals.Results 96 of 104 spikes of group Ⅰ were lateralized properly by psADTF according to surgery sites,and the accuracy rate was 92％.94 of 98 spikes of group Ⅱ were lateralized properly by psADTF according to three technicians' judgments,with the accuracy rate of 96％.Conclusion Our results proves that the psADTF method over interictal EEG spikes can be a great help to clinical epileptic foci lateralization.

How does brain select and adjust the distributed neural activities to achieve its function? To address this problem,researchers introduce Granger causality analysis method to brain functional study,which deals with the estimation of causal influences among multi-variables.First,basic principles of Granger Causality and its improved algorithm structural vector autoregression (SVAR) are introduced.Then several technical problems are reviewed which should be noted when analyzing brain functional signals by Granger Causality Methods.In the end,the application foreground of Granger Causality in epilepsy localization is introduced by taking idiopathic generalized epilepsy as the example.