尿素循环障碍患儿慢性期治疗和管理
Zhejiang da xue xue bao. Journal of Zhejiang University. Medical sciences. Yi xue ban,
10/2023, Letnik:
52, Številka:
6
Journal Article
Odprti dostop
尿素循环障碍（UCD）是一组致死、致残率较高的遗传代谢病，需要长期饮食和药物治疗及管理。除希特林蛋白缺乏症和行肝移植治疗的患儿，其他慢性期患儿均需要终身低蛋白饮食，保证其相应年龄的安全蛋白质摄入量以及充足的碳水和脂肪的供能比，必要时补充必需氨基酸及无蛋白奶粉；药物治疗主要包括氮清除剂（苯甲酸钠、苯丁酸钠、苯丁酸甘油酯）、尿素循环激活/底物补充剂（
N
...-氨基甲酰谷氨酸、精氨酸、瓜氨酸）等。规范饮食及药物治疗后未达预期效果、出现严重进展性肝病或出现反复发作的患儿建议行肝移植。基因疗法、干细胞疗法和酶替代疗法等新技术可能是UCD患儿治疗的新选择。UCD患儿需要定期检测血氨、肝功能和血氨基酸等生化指标，并评估体格生长、智力发育和营养摄入情况，及时调整治疗方案。
The hybrid nanostructure is formed during the simultaneous growth of both Bi2WO6 and Bi2O2CO3, namely via one-pot synthetic route. The Bi2O2CO3/Bi2WO6 composite exhibits higher photocatalytic ...activity than single phase Bi2O2CO3 or Bi2WO6 for rhodamine B degradation under simulated sunlight irradiation.
•One-pot hydrothermal synthesis of Bi2O2CO3/Bi2WO6 composite photocatalyst.•The assembly of Bi2O2CO3 and Bi2WO6 nanosheets forms a hybrid nanostructure.•The Bi2O2CO3/Bi2WO6 composite exhibits higher photocatalytic activity than single phase Bi2O2CO3 or Bi2WO6 for degradation of rhodamine B under simulated sunlight irradiation.
A novel Bi2O2CO3/Bi2WO6 composite photocatalyst is synthesized via a one-pot hydrothermal route. The as-prepared composite is assembled by many Bi2O2CO3 and Bi2WO6 nanosheets, forming a unique hybrid nanostructure. The investigation on the degradation of Rhodamine B (RhB) under the Xe light illumination reveals that the Bi2O2CO3/Bi2WO6 composite exhibits higher photocatalytic activity than single phase Bi2O2CO3 or Bi2WO6. The enhanced photocatalytic performance can be attributed to the improved light absorption ability and the reduced recombination of photoexcited electrons and holes during photocatalytic reactions. Moreover, a possible reaction pathway of the Bi2O2CO3/Bi2WO6 composite is proposed. The one-pot hydrothermal method developed in this study provides an example of simultaneous synthesis of two Bi-containing Aurivillius-related phases with enhanced photocatalytic activity.
Alcoholic liver disease (ALD) is a growing public health issue with high financial, social, and medical costs. Lonicera caerulea, which is rich in polyphenolic compounds, has been shown to exert ...anti-oxidative and anti–inflammatory effects. This study aimed to explore the effects and mechanisms of concentrated Lonicera caerulea juice (LCJ) on ALD in mice. ALD was established in mice via gradient alcohol feeding for 30 days. The mice in the experimental group were given LCJ by gavage. The reduction of aspartate transaminase (AST) and alanine transaminase (ALT) in the serum of mice indicated that LCJ has a liver-protective effect. LCJ improved the expression of AMPK, PPARα, and CPT1b in ALD mice to reduce the liver lipid content. Additionally, LCJ increased the expression of farnesoid X receptor (FXR), fibroblast growth factor 15 (FGF15), and fibroblast growth factor receptor 4 (FGFR4), which lowers the expression of cytochrome P450 7A1 (CYP7A1) and lessens bile acid deposition in the liver. In mice, LCJ improved the intestinal barrier by upregulating the expression of mucins and tight junction proteins in the small intestine. Moreover, it accelerated the restoration of microbial homeostasis in both the large and small intestines and increased short–chain fatty acids in the cecum. In conclusion, LCJ alleviates ALD by reducing liver and serum lipid accumulation and modulating the FXR–FGF15 signaling pathway mediated by gut microbes.
Tetrabromobisphenol A (TBBPA) is one of the most widely used brominated flame retardants and is ubiquitously present in the environment. In this study, we investigated the debromination of TBBPA by ...nanoscale zerovalent iron (nZVI) in methanol/water (50/50) solutions. Zerovalent iron nanoparticles demonstrated an excellent capacity to debrominate TBBPA to tribromobisphenol A, dibromobisphenol A, bromobisphenol A, and bisphenol A. More than 86% of TBBPA was debrominated within 16 h in a pH 7.5 reaction solution initially containing 3.0 g/L of nZVI. Debromination of TBBPA was apparently accompanied by the release of bromine ions and the elevation of solution pH. The debromination kinetics could be well-described by a three-parameter pseudo-first-order decay model. A higher loading of nZVI and acidic conditions facilitated the debromination process, while coexisting Ca2+ and Na+ species inhibited the reaction. On the basis of identified reaction intermediates and products, TBBPA debromination pathways by nZVI were proposed. This study suggests that nZVI may be potentially employed to debrominate TBBPA in soil and sediment.
Anodic oxidation of Ti in aqueous NaOH solutions is employed to grow titanium oxide or titanate nanostructured thin films on Ti substrates. The effect of voltage (10–30V), temperature (20–80°C), NaOH ...concentration (0.5–4M) and oxidation duration (0.5–5h) on the chemical composition, morphology, and photoelectrochemical property of as-grown films has been investigated. It is found that the film composition is strongly related to the alkali concentration. Titanium oxide films are obtained in low-concentration NaOH solutions (≤2M), whereas the films primarily consist of titanate if the NaOH concentration reaches 4M. Our results have also shown that by changing the growth conditions the films with different morphology can be obtained. When anodizing Ti at 80°C and 30V for 3h, for example, a nanowire film with net-like morphology and a nanoleaf film can be grown in 2M and 4M NaOH solutions, respectively. An analysis of the correlation of measured photocurrent with film thickness or surface roughness reveals that the photoelectrochemical property of the titanium oxide films is dependent on both their thickness and surface morphology. The nanowire film with net-like morphology is found to be more photoactive than other films due to its relatively large thickness (~510nm), high surface roughness (~18.4nm) and one-dimensional structural feature. Based on the experimental results, a possible mechanism for growth of titanium oxide or titanate thin films on Ti substrates in alkali aqueous solutions via anodic oxidation has been proposed.
•Preparation of titanium oxide or titanate films on Ti substrates.•Anodizing Ti in aqueous NaOH solutions.•Film composition is dependent on the NaOH concentration.•Films made of different nanostructures are obtained.•Net-like film made of short nanowires is more photoactive than other films.
The cyanobacteria blooms caused by eutrophication has received widespread attention in recent years，which endanger the environment，destroy ecological environment and affect the normal life of human ...beings. The control of cyanobacterial blooms is one of the important issues to be solved at present. The chemical method of adding algaecide is very effective for timely control of cyanobacteria blooms. However，few studies have comprehensively summarized the practical application of common algaecides despite the attention given to their development. Some algaecides which have received much attention in recent years for the typical species of cyanobacteria were focused on. For Microcystis aeruginosa， a typical cyanobacteria， the algicidal effect，the working mechanism，the effect on the microcystin（MC），and the practical applications of these algaecides were reviewed. It was hoped to provide guidance for the selection of algaecides. Moreover，the potential risks of excessive background concentrations of allelopathic sub
In recent years, antibiotics (such as levofloxacin (LEV)) have been detected widely in the environment. Semiconductor photocatalysis has been recognized as a promising technology for removing ...pollutants in the environment. In this work, nitrogen and carbon codoped titanium dioxide nano-catalyst (NCD-TiO2) was immobilized in polyvinyl alcohol (PVA) matrix to form PVA/NCD-TiO2 films through solution casting and thermal treatment, which exhibited good photocatalytic efficiency for LEV degradation. The results showed that about 42% LEV can be degraded after 2 h in the presence of PVA/NCD-TiO2 nanocomposite film (the weight ratio of NCD-TiO2 to PVA is 8% and thermal treatment is 120 °C) under visible light. Moreover, possible pathways of photocatalytic degradation of LEV according to the detected intermediates are proposed, which provide insight into the degradation mechanism of LEV by using PVA/NCD-TiO2 photocatalytic films. Finally, the synthesized PVA/NCD-TiO2 films exhibited excellent reusability and stability in photocatalysis. This work provides fundamental support for the design of a high-stability, excellent photocatalyst for practical application.
A titanate nanotube catalyst for ozonation was synthesized with a simple one-step NaOH hydrothermal treatment without energy-consuming calcination. The synthesized titania catalysts were ...characterized by X-ray diffraction (XRD), Raman, porosimetry analysis, high-resolution transmission electron microscopy (HR-TEM), Fourier transformed infrared (FTIR), and electron paramagnetic resonance (EPR) analysis. The catalyst treated with a higher concentration of NaOH was found to be more catalytically active for phenol removal due to its higher titanate content that would facilitate more OH groups on its surface. Furthermore, the main active oxidizing species of the catalytic ozonation process were recognized as singlet oxygen and superoxide radical, while the hydroxyl radical may only play a minor role. This work provides further support for the correlation between the properties of titania and catalytic performance, which is significant for understanding the mechanism of catalytic ozonation with titania-based materials.
Inherited metabolic disorders (IMDs) usually occurs at young age and hence it severely threatening the health and life of young people. While so far there lacks a comprehensive study which can ...reveals China's nationwide landscape of IMDs. This study aimed to evaluate IMDs incidence and regional distributions in China at a national and province level to guide clinicians and policy makers.
The retrospective study conducted from January 2012 to March 2021, we analyzed and characterized 372255 cases' clinical test information and diagnostic data from KingMed Diagnostics Laboratory. The samples were from 32 provincial regions of China, the urine organic acids were detected by gas chromatography-mass spectrometry (GC-MS), amino acids and acylcarnitines in dried blood spots were detected by liquid chromatography-tandem mass spectrometry (LC-MS/MS). We did a statistical analysis of the distribution of the 16 most common IMDs in amino acid disorders and organic acidemias, and then paid special attention to analyze the age and regional distributions of different IMDs. The statistical analyses and visualization analysis were performed with the programming language R (version 4.2.1).
There were 4911 positive cases diagnosed, which was 1.32% of the total sample during the ten-year study period. Most diseases tended to occur at ages younger than 18 year-old. The Ornithine Transcarbamylase Deficiency tended to progress on male infants who were less than 28 days old. While the peak of the positive case number of Citrin Deficiency disease (CD) was at 1-6 months. Different IMDs' had different distribution patterns in China's provinces. Methylmalonic Acidemias and Hyperphenylalaninemia had an imbalanced distribution pattern in China and its positive rate was significantly higher in North China than South China. Conversely, the positive rate of CD was significantly higher in South China than North China.
Results of this work, such as the differences in distribution pattern of different diseases in terms of age, region, etc. provide important insights and references for clinicians, researchers and healthcare policy makers. The policy makers could optimize the better health screening programs for covering children and infants in specific ages and regions based on our findings.
Newborn screening (NBS) has been implemented for neonatal inborn disorders using various technology platforms, but false-positive and false-negative results are still common. In addition, target ...diseases of NBS are limited by suitable biomarkers. Here we sought to assess the feasibility of further improving the screening using next-generation sequencing technology.
We designed a newborn genetic sequencing (NBGS) panel based on multiplex PCR and next generation sequencing to analyze 134 genes of 74 inborn disorders, that were validated in 287 samples with previously known mutations. A retrospective cohort of 4986 newborns was analyzed and compared with the biochemical results to evaluate the performance of this panel.
The accuracy of the panel was 99.65% with all samples, and 154 mutations from 287 samples were 100% detected. In 4986 newborns, a total of 113 newborns were detected with biallelic or hemizygous mutations, of which 36 newborns were positive for the same disorder by both NBGS and conventional NBS (C-NBS) and 77 individuals were NBGS positive/C-NBS negative. Importantly, 4 of the 77 newborns were diagnosed currently including 1 newborn with methylmalonic acidemia, 1 newborn with primary systemic carnitine deficiency and 2 newborns with Wilson's disease. A total of 1326 newborns were found to be carriers with an overall carrier rate of 26.6%.
Analysis based on next generation sequencing could effectively identify neonates affected with more congenital disorders. Combined with C-NBS, this approach may improve the early and accurate identification of neonates with inborn disorders. Our study lays the foundation for prospective studies and for implementing NGS-based analysis in NBS.
PDF