Treacher Collins综合征1例基因突变分析

目的分析1例Treacher Collins综合征(TCS)病人的遗传学改变,探讨该病例基因型-表型的关系。方法提取先证者及其父母外周静脉血全基因组DNA和RNA,利用全外显子测序(WES)对先证者进行突变筛查,采用Sanger测序在先证者及其父母中进行验证。结果先证者符合TCS的典型临床症状。基因检测分析结果显示,该病例TCOF1基因第18外显子最后一个碱基发生c.3183G>A(p.Q1061=)突变,但表型正常的父母不存在此突变,因此该突变是一个de-novo遗传的突变。RNA验证显示,先证者与健康人的TCOF1 mRNA水平存在显著差异(t=-27.488,P<0.01)。结论TCOF1基因c.3183G>A突变很可能是TCS的致病突变位点。本研究结果有助于了解和完善中国TCS病人的遗传学基础。

Treacher Collins综合征新生儿伴上呼吸道梗阻1例术后护理

Treacher Collins综合征(Treacher Collins syndrome,TCS)又称Berry综合征或下颌面发育不良综合征,是一种罕见的颅面部畸形遗传疾病。其特征是睑裂下斜、颧骨及下颌骨发育不全、小颌畸形和外耳异常。患儿主要临床表现为视力、听力、语言和进食等功能障碍,严重者可出现呼吸困难、睡眠窒息甚至死亡[1-2]。

A generalized Collins formula derived by virtue of the displacement-squeezing related squeezed coherent state representation

Based on the displacement-squeezing related squeezed coherent state representation ｜z〉g and using the technique of integration within an ordered product of operators, this paper finds a generalized Fresnel operator, whose matrix element in the coordinate representation leads to a generalized Collins formula （Huygens-Fresnel integration transformation describing optical diffraction）. The generalized Fresnel operator is derived by a quantum mechanical mapping from z to sz -- rz^＊ in the ｜Z〉g representation, while ｜z〉g in phase space is graphically denoted by an ellipse.

The two-mode quantum Fresnel operator and the multiplication rule of 2D Collins diffraction formula

By using the two-mode Fresnel operator we derive a multiplication rule of two-dimensional （2D） Collins diffraction formula, the inverse of 2D Collins diffraction integration can also be conveniently derived in this way in the context of quantum optics theory.

Effect of the Implementation of Emonc in the Reduction of Maternal Deaths in the Department of Collines from 2018 to 2022

Background: Maternal and neonatal mortality remains a public health problem in Benin. Each year, approximately 1500 maternal deaths and more than 12,000 newborn deaths are recorded there. In order to correct the situation, strategies such as the implementation of Emergency Obstetric and Neonatal Care (EmONC) were initiated. Objective: Determine the rates of maternal deaths in EmONC centers in the Collines department from 2018 to 2022. Framework and Methods: The study took place in Benin precisely in the Collines department. This was a descriptive cross-sectional study. Data collection was carried out during the first two weeks of January 2023 and covered data from the 09 Basic Emergency Obstetric and Neonatal Care centers (BEMONC) and the Obstetric and Neonatal Care centers of Complete Emergency (CEmONC) of the Collines department from 2018 to 2022. An estimate of the ratios of maternal deaths occurring at the level of the EmONC centers of the Collines department from 2018-2022 was carried out followed by constructive suggestions. Results: During the five years (2018 to 2022), the Collines department recorded 42,582 live births with 148 maternal deaths, i.e. a ratio of 348 maternal deaths per 100,000 live births. Between 2018 and 2022, the highest maternal death ratio was recorded in 2019, i.e. 425 maternal deaths per 100,000 live births for all EmONC centers and 607 maternal deaths per 100,000 live births in EmONC centers. The highest maternal death ratio at the BEmONC center level was recorded in 2020, i.e. 129 maternal deaths per 100,000 births. Conclusion: These results suggest that despite the implementation of EmONC in the Collines department, maternal deaths have not decreased. To improve these outcomes for a reduction in maternal deaths, urgent action must be taken.

Trace formula of the integro-differential operator on a quantum graph

In this paper we study the eigenvalue problem for integro-differential operators on a lasso graph.The trace formula of the operator is established by applying the residual technique in complex analysis.

Analytical Solution and Simplified Formula for Added Mass of Horizontal and Vertical Motions of Truncated Cylinders Under Earthquake Action

This paper investigates the hydrodynamic characteristics of floating truncated cylinders undergoing horizontal and vertical motions due to earthquake excitations in the finite water depth.The governing equation of the hydrodynamic pressure acting on the cylinder is derived based on the radiation theory with the inviscid and incompressible assumptions.The governing equation is solved by using the method of separating variables and analytical solutions are obtained by assigning reasonable boundary conditions.The analytical result is validated by a numerical model using the exact artificial boundary simulation of the infinite water.The main variation and distribution characteristics of the hydrodynamic pressure acting on the side and bottom of the cylinder are analyzed for different combinations of wide-height and immersion ratios.The added mass coefficient of the cylinder is calculated by integrating the hydrodynamic pressure and simplified formulas are proposed for engineering applications.The calculation results show that the simplified formulas are in good agreement with the analytical solutions.

Examining the Use of Scott’s Formula and Link Expiration Time Metric for Vehicular Clustering

Implementing machine learning algorithms in the non-conducive environment of the vehicular network requires some adaptations due to the high computational complexity of these algorithms.K-clustering algorithms are simplistic,with fast performance and relative accuracy.However,their implementation depends on the initial selection of clusters number(K),the initial clusters’centers,and the clustering metric.This paper investigated using Scott’s histogram formula to estimate the K number and the Link Expiration Time(LET)as a clustering metric.Realistic traffic flows were considered for three maps,namely Highway,Traffic Light junction,and Roundabout junction,to study the effect of road layout on estimating the K number.A fast version of the PAM algorithm was used for clustering with a modification to reduce time complexity.The Affinity propagation algorithm sets the baseline for the estimated K number,and the Medoid Silhouette method is used to quantify the clustering.OMNET++,Veins,and SUMO were used to simulate the traffic,while the related algorithms were implemented in Python.The Scott’s formula estimation of the K number only matched the baseline when the road layout was simple.Moreover,the clustering algorithm required one iteration on average to converge when used with LET.

Jianpi Qinghua Formula Alleviates Diabetic Myocardial Injury Through Inhibiting JunB/c-Fos Expression

Objective Diabetic cardiomyopathy(DCM)represents a substantial risk factor for heart failure and increased mortality in individuals afflicted with diabetes mellitus(DM).DCM typically manifests as myocardial fibrosis,myocardial hypertrophy,and impaired left ventricular diastolic function.While the clinical utility of the Jianpi Qinghua(JPQH)formula has been established in treating diabetes and insulin resistance,its potential efficacy in alleviating diabetic cardiomyopathy remains uncertain.This study aims to investigate the impact and underlying molecular mechanisms of the JPQH formula(JPQHF)in ameliorating myocardial injury in nonobese diabetic rats,specifically focusing on apoptosis and inflammation.Methods Wistar rats were assigned as the normal control group(CON),while Goto-Kakizaki(GK)rats were randomly divided into three groups:DM,DM treated with the JPQHF,and DM treated with metformin(MET).Following a 4-week treatment regimen,various biochemical markers related to glucose metabolism,cardiac function,cardiac morphology,and myocardial ultrastructure in GK rats were assessed.RNA sequencing was utilized to analyze differential gene expression and identify potential therapeutic targets.In vitro experiments involved high glucose to induce apoptosis and inflammation in H9c2 cells.Cell viability was evaluated using CCK-8 assay,apoptosis was monitored via flow cytometry,and the production of inflammatory cytokines was measured using quantitative real-time PCR(qPCR)and ELISA.Protein expression levels were determined by Western blotting analysis.The investigation also incorporated the use of MAPK inhibitors to further elucidate the mechanism at both the transcriptional and protein levels.Results The JPQHF group exhibited significant reductions in interventricular septal thickness at end-systole(IVSs)and left ventricular internal diameter at end-systole and end-diastole(LVIDs and LVIDd).JPQHF effectively suppressed high glucose-induced activation of IL-1βand caspase 3 in cardiomyocytes.Furthermore,JPQHF downregulated the expression of myocardial JunB/c-Fos,which was upregulated in both diabetic rats and high glucose-treated H9c2 cells.Conclusion The JPQH formula holds promise in mitigating diabetic myocardial apoptosis and inflammation in cardiomyocytes by inhibiting JunB/c-Fos expression through suppressing the MAPK(p38 and ERK1/2)pathway.

The Collins Formula Applied in Optical Image Encryption

We propose a novel method for image encryption,which is realized by the Collins formula with the random shifting method.The Collins formula can denote different optical transforms by one expression with different ABCD elements.For a generalized optical system,the ABCD elements can be randomly chosen,so the keys are increased and the security of the system is strengthened.Finally,some computer simulations are given for different encryption systems to prove the possibilities.The encryption effect is good,and people without the correct keys can not obtain the information easily.

Antidepressant effects of Peiyuan Jieyu formula in a mouse model of chronic stress in conjunction with lipopolysaccharide-induced depression

Objective:To explore the mechanism of the Peiyuan Jieyu formula in treating depression by assessing its impact on a lipopolysaccharide-induced(LPS-induced)depression mouse model.Methods:We created a mouse model of depression by exposing mice that had previously received chronic stress to intraperitoneal LPS injections.The mice were divided into the following groups:control,model,fluoxetine,Tiansi Yin,Sini powder,and low-,medium-,and high-dose Peiyuan Jieyu formula groups.Forced swim and tail suspension tests were used to assess the efficacy of the depression(despair)model,and weight gain rates were also measured.Furthermore,serum levels of various depression and inflammation-associated molecules,including tumor necrosis factor-a(TNF-a),interferon-γ(IFN-γ),tryptophan,5-hydroxytryptamine,kynurenine(KYN),and kynurenic acid(KA)were assessed.Furthermore,the expression levels of ionic calcium-binding adaptor molecule-1(IBA-1)and indoleamine 2,3-dioxygenase(IDO)mRNA in hippocampal microglia were measured.Results:The model group displayed greater despair-associated immobility,which was shortened in response to various doses of Peiyuan Jieyu formula.Furthermore,formula administration significantly reduced serum TNF-a levels and hippocampal IDO mRNA expression.The high formula dose also reduced IFN-γand IBA-1 levels,the latter was also decreased in response to the medium formula dose.However,the low formula dose reduced serum KYN level and KYN/tryptophan(TRP)and KYN/KA ratios.Conclusion:The Peiyuan Jieyu formula holds immense potential in treating depression in a mouse model,potentially inhibiting inflammation and improving TRP-KYN metabolic disorders.

Evaluation of the famous classic formula Sanhua decoction based on network pharmacology and multi-component quantitative analysis

Background:Sanhua decoction has significant effects in the treatment of stroke.The study of the Sanhua decoction material benchmark was carried out to analyze the value transfer relationship between the Chinese herbal pieces and the substance benchmark.Methods:Network pharmacology was employed to investigate the potential active components and molecular mechanisms of Sanhua decoction in the treatment of stroke.15 batches of Sanhua decoction lyophilized powder were prepared using traditional formulas and subjected to high-performance liquid chromatography analysis to generate fingerprints of the Sanhua decoction substance benchmarks.Then,a multi-component quantitative analysis method was established,allowing for the simultaneous determination of ten components,to study the transfer of quantity values between pieces and substance benchmarks.Results:60 active ingredients were screened from Sanhua decoction by network pharmacology,of which gallic acid,magnolol honokiol,physcion,and aloe-emodin may have a greater effect than other active components.63 key targets and 134 pathways were predicted as the potential mechanism of Sanhua decoction in treating stroke.The fingerprint similarity of the Sanhua decoction substance benchmarks was found to be good among the 15 batches,confirming the 19 common peaks.The content of the 10 components was basically consistent.The components’transfer rates were within 30%of their respective means.Conclusions:This study provided a comprehensive and reliable strategy for the quality evaluation of Sanhua decoction substance benchmarks and held significant importance in improving its application value.

Gastrointestinal tolerability of organic infant formula compared to traditional infant formula: A systematic review

BACKGROUND Infants'nutrition significantly influences their growth,development,and overall well-being.With the increasing demand for organic infant formula driven by the perception of health benefits and growing awareness of natural feeding options,it is crucial to conduct a comparative analysis of the gastrointestinal tolerability between organic and traditional infant formulas.AIM To provide a concise and precise analysis of the gastrointestinal tolerability of organic infant formula compared to traditional infant formula.Due to limited direct comparisons,the review synthesizes available literature on each formula type,presenting insights into their potential effects on infants'digestive health.METHODS An extensive literature search was conducted,compiling studies on organic and traditional infant formulas,their compositions,and reported effects on gastrointestinal tolerability.We searched academic databases such as PubMed and Google Scholar and specialized nutrition,paediatrics,and infant health journals using relevant keywords till October 1,2023.RESULTS Although specific comparative studies are scarce and formula heterogeneity is a significant limitation,this systematic review provides an in-depth understanding of organic infant formulas'composition and potential benefits.While scientific evidence directly comparing gastrointestinal tolerability is limited,organic formulas strive to use carefully selected organic ingredients to imitate breast milk composition.Potential benefits include improved lipid profiles,higher methionine content,and decreased antibiotic-resistant bacteria levels.Understanding the gastrointestinal tolerability of organic and traditional infant formulas is crucial for parents and healthcare providers to make informed decisions.CONCLUSION Despite limitations in direct comparisons,this systematic review provides insights into the composition and potential benefits of organic infant formulas.It emphasizes the need for further research to elucidate their gastrointestinal effects comprehensively.

Effect of Luhong formula on the cardiac rehabilitation of patients with chronic heart failure

BACKGROUND Current treatments for chronic heart failure(CHF)are therapeutically ineffective.The optimization of treatments for this disease needs to be explored and analyzed.AIM To analyze the effect of using Luhong Formula in the cardiac rehabilitation of patients with CHF and its influence on cardiopulmonary function(CPF)and prognosis.METHODS In total,160 patients with CHF admitted between June 2022 and June 2023 were selected,including 75 receiving perindopril(control group)and 85 receiving Luhong Formula(research group).We conducted comparative analyses on the curative effects of traditional Chinese medicine(TCM)syndromes and cardiac function,CPF[oxygen consumption at the anaerobic threshold(VO2 AT)and at peak exercise(peak VO2)],echocardiographic indexes[left atrial volume index(LAVI),left ventricular muscle mass index(LVMI),left ventricular ejection fraction(LVEF)],and prognosis[major adverse cardiovascular events(MACEs)at 6 months follow-up].RESULTS The research group showed markedly higher curative effects of TCM syndromes and cardiac function than the control group.In addition,post-treatment VO2 AT,peak VO2,LVMI and LVEF in the research group were significantly higher,whereas LAVI was significantly lower,than those of the control group.Furthermore,fewer patients in the research group developed MACEs at the 6-month follow-up.CONCLUSION Luhong Formula is more therapeutically effective than perindopril for the cardiac rehabilitation of patients with CHF,specifically in enhancing CPF and prognosis.

Validation of Molecular Detection Methods for Gluten Allergens in Infant Formula

[Objectives]To verify the specificity,sensitivity,precision and negative-positive deviation of the foodproof gluten component de-tection kit for the detection of gluten allergens in milk powder matrix,and to establish a real-time fluorescent PCR legal method for the detec-tion of gluten allergens in milk powder.[Methods]The specificity,sensitivity,precision and negative-positive deviation of the detection method of foodproof gluten component detection kit(PCR-probe method)were verified by artificially adding different concentrations of wheat bran and extracting sample DNA by kit method,and applied to sample detection.[Results] The specific detection results of two kinds of milk powder with wheat bran and buckwheat added showed that the foodproof gluten component detection kit(PCR-probe method)had good speci-ficity for wheat gluten.The results of artificially added wheat bran positive samples showed that the false positive rate and false negative rate of the kit in the milk powder matrix were O,and the sensitivity and precision were high.[Conclusions]The kit is simple to operate and has high accuracy,which is suitable for the detection of gluten allergen components in milk powder.

The tangential k-Cauchy-Fueter type operator and Penrose type integral formula on the generalized complex Heisenberg group

The tangential k-Cauchy-Fueter operator and k-CF functions are counterparts of the tangential Cauchy–Riemann operator and CR functions on the Heisenberg group in the theory of several complex variables,respectively.In this paper,we introduce a Lie group that the Heisenberg group can be imbedded into and call it generalized complex Heisenberg.We investigate quaternionic analysis on the generalized complex Heisenberg.We also give the Penrose integral formula for k-CF functions and construct the tangential k-Cauchy-Fueter complex.

Shi-pi-xiao-ji formula suppresses hepatocellular carcinoma by reducing cellular stiffness through upregulation of acetyl-coA acetyltransferase 1

BACKGROUND Previous studies have shown that the Shi-pi-xiao-ji(SPXJ)herbal decoction formula is effective in suppressing hepatocellular carcinoma(HCC),but the underlying mechanisms are not known.Therefore,this study investigated whether the antitumor effects of the SPXJ formula in treating HCC were mediated by acetyl-coA acetyltransferase 1(ACAT1)-regulated cellular stiffness.Through a series of experiments,we concluded that SPXJ inhibits the progression of HCC by upregulating the expression level of ACAT1,lowering the level of cholesterol in the cell membrane,and altering the cellular stiffness,which provides a new idea for the research of traditional Chinese medicine against HCC.AIM To investigate the anti-tumor effects of the SPXJ formula on the malignant progression of HCC.METHODS HCC cells were cultured in vitro with SPXJ-containing serum prepared by injecting SPXJ formula into wild-type mice.The apoptotic rate and proliferative,invasive,and migratory abilities of control and SPXJ-treated HCC cells were compared.Atomic force microscopy was used to determine the cell surface morphology and the Young’s modulus values of the control and SPXJ-treated HCC cells.Plasma membrane cholesterol levels in HCC cells were detected using the Amplex Red cholesterol detection kit.ACAT1 protein levels were estimated using western blotting.RESULTS Compared with the vehicle group,SPXJ serum considerably reduced proliferation of HCC cells,increased stiffness and apoptosis of HCC cells,inhibited migration and invasion of HCC cells,decreased plasma membrane cholesterol levels,and upregulated ACAT1 protein levels.However,treatment of HCC cells with the water-soluble cholesterol promoted proliferation,migration,and invasion of HCC cells as well as decreased cell stiffness and plasma membrane cholesterol levels,but did not alter the apoptotic rate and ACAT1 protein expression levels compared with the vehicle control.CONCLUSION SPXJ formula inhibited proliferation,invasion,and migration of HCC cells by decreasing plasma membrane cholesterol levels and altering cellular stiffness through upregulation of ACAT1 protein expression.

Acute Toxicity of Jinchuan Formula Plum Wine Extract and Its Protective Effect on Mice with Liver Injury

[Objectives]To investigate the acute toxicity and hepatoprotective effect of Jinchuan formula plum wine extract on mice,determine its safety range,and evaluate its hepatoprotective effect.[Methods]The median lethal dose(LD_(50))was determined by acute toxicity test with the toxic reaction and mortality of mice as indexes.Sixty Kunming mice were randomly divided into 6 groups:normal control group,model group(ConA-induced liver injury model),Jinchuan formula plum wine high,medium and low dose groups(1.0,0.5,0.25 g/kg)and silybin group(0.1 g/kg).The levels of ALT,AST,LDH in serum and TG,VLDL in liver were measured.After HE staining,the pathological changes of liver tissue in mice were observed,and the liver protective effect of Jinchuan formula plum wine extract was analyzed and evaluated.[Results]LD_(50)was 11.18 g/kg,and the 95%confidence limit of LD_(50)was 10.31-12.05 g/kg.The high-dose group of Jinchuan formula plum wine extract could significantly reduce the serum ALT and AST activities of ConA-induced liver injury mice(P<0.05).[Conclusions]Jinchuan formula plum wine extract is relatively safe,and also has a protective effect on liver injury.

Reciprocity Relation between Alternative Gravity Formulas

We compare Newton’s force law of universal gravitation with a corrected simple approach based on Bhandari’s recently presented work, where the gravitation constant G is maintained. A reciprocity relation exists between both alternative gravity formulas with respect to the distances between mass centers. We conclude a one-to-one mapping of the two gravitational formulas. We don’t need Einstein’s construct of spacetime bending by matter.

Exploring the bioactive compounds of Feiduqing formula for the prevention and management of COVID-19 through network pharmacology and molecular docking

Background:To explore the effective chemical constituents of Feiduqing formula for prevention and treatment of coronavirus disease 2019(COVID-19).Methods:The compounds and action targets of twelve herbal medicines in Feiduqing formula were collected via Traditional Chinese Medicine Systems Pharmacology Database and Analytic Platform.The genes corresponding to the targets were queried through the UniProt database.The“herbal medicine-ingredient-target”network was established by Cytoscape software.The Gene Ontology function enrichment analysis and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analysis were performed by Database for Annotation,Visualization and Integrated Discovery.Molecular docking was used to analyze the binding force of core active compounds of Feiduqing formula with PTGS2,HSP90AA1,SARS-CoV-23CL hydrolase and angiotensin converting enzyme II(ACE2).Results:The“herbal medicine-ingredient-target”network included 434 nodes and 1948 edges,including 222 components such as quercetin,kaempferol,luteolin,etc.The key targets are PTGS2,HSP90AA1,PTGS1,ESR1,AR,NOS2,etc.Gene Ontology function enrichment analysis revealed 2530 items,including RNA polymerase II-specific,response to oxidative stress,transcription factor activity,etc.Kyoto Encyclopedia of Genes and Genomes pathway enrichment screened 169 signal pathways,including Human cytomegalovirus infection,Kaposi sarcoma-associated herpesvirus infection,Hepatitis B,Hepatitis C,IL-17,TNF,etc.The results of molecular docking showed that quercetin,luteolin,β-sitosterol,stigmasterol and other core active compounds have a certain degree of affinity with PTGS2,HSP90AA1,SARS-CoV-23CL hydrolase and ACE2.Conclusion:The active compounds of Feiduqing formula may have a therapeutic effect on COVID-19 pneumonia through the action on PTGS2,HSP90AA1,SARS-CoV-23CL hydrolase and ACE2,and regulating many signaling pathways.