研究 3-羟基乙酰-CoA脱氢酶缺乏症患儿生物液体结晶特性的诊断意义

I. V. Sadovnikova, A. Martusevich, E. Fedulova, A. I. Khavkin, S. A. Abramov, A. S. Kisurina
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摘要

相关性:晶体学--一种诊断生物液体(BF)的方法,可以评估脱水后生物液体晶体的物理特性,并间接确定生物液体蛋白质组的状态。晶体学检查有助于确定体内的病理过程(炎症、肿瘤发生、创伤),并进一步监测治疗效果。HAD 酶的缺陷会导致生酮作用急剧下降,长链脂肪酸积累,二羧酸形成增加,从而对大脑、心脏和肝脏组织产生负面影响,并抑制多种酶(尤其是糖元生成酶)。目的:对正常和代谢病理情况下的生物液体结晶检查结果进行比较分析。材料。材料和方法:对 20 名受检者的唾液和 7 名受检儿童的尿液进行结晶学检查,前者未确诊为代谢性病变,后者确诊为酶系统病变并伴有肝损伤。为详细分析研究结果,考虑了 2022 年在伏尔加研究医科大学大学诊所儿科研究所住院的 10 个月大儿童 B.的病史。讨论先天性肝酶病患者生物液体的结晶活性发生了显著变化。在尿液的干燥微制备物中,记录到生物体的晶体形成能力适度增加,这表现为结晶水平和结构指数的增加。面晶结构破坏程度的急剧增加证明了变化的病理性质。此外,根据血清脱水结构化的激活情况,患者血清的结晶图也显示出明显的结晶特性变化,表现为结晶度和结构指数的增加。与尿液样本类似,与健康儿童样本相比,这种生物液体的面破坏程度也急剧增加。结论生物液体结晶检查法具有诊断先天性和后天性顽固性代谢紊乱的潜力,因为其信息量大、简单,而且在医学检查框架内进行研究具有成本效益。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Diagnostic significance of studying the crystallogenic properties of biological fluids in a child with a deficiency of 3-hydroxyacyl-CoA dehydrogenase
Relevance: Crystalloscopy - a method for diagnosing biological fluids (BF) allows you to evaluate the physical properties of BF crystals after dehydration, as well as indirectly determine the state of the BF proteome. Crystallography helps to identify pathological processes (inflammation, oncogenesis, trauma) in the body and further monitor the effectiveness of treatment. A defect in the HAD enzyme leads to a sharp decrease in ketogenesis, the accumulation of long-chain fatty acids, an increase in the formation of dicarboxylic acids that negatively affect the tissues of the brain, heart and liver, and inhibition of a number of enzymes (in particular, gluconeogenesis enzymes). Objective: to conduct a comparative analysis of the results of crystalloscopic examination of biological fluids in normal and metabolic pathology. Materials. Materials and methods: Crystalloscopic examination of saliva of 20 people and urine of 7 examined children without a verified diagnosis associated with metabolic pathology and a child with an established pathology of enzyme systems with liver damage. For a detailed analysis of the results of the study, the case history of child B., 10 months old, hospitalized at the Institute of Pediatrics of the University Clinic of the Volga Research Medical University in 2022, was considered. Discussion: The crystallogenic activity of the biological fluids of a patient with congenital liver enzymopathy is significantly transformed. In dried micropreparations of urine, a moderate increase in the crystal-forming ability of the biomedium was recorded, as indicated by an increase in the level of crystallization and structural index. A sharp increase in the degree of destruction of crystalline structures in the facies testified to the pathological nature of the changes. Also, pronounced shifts in the crystallogenic properties were revealed in the crystallograms of the patient’s blood serum according to the activation of dehydration structurization of the blood serum, as indicated by an increase in crystallization and structure index. Similar to urine samples, a sharp increase in the degree of facies destruction was recorded in this biological fluid compared to samples from healthy children. Conclusions: The method of crystalloscopic examination of biological fluids has the potential in the diagnosis of congenital and acquired persistent metabolic disorders due to the information content and simplicity and cost-effective study within the framework of medical examination.
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