scholarly journals Oxylipin Profiles in Plasma of Patients with Wilson’s Disease

Metabolites ◽  
2020 ◽  
Vol 10 (6) ◽  
pp. 222
Author(s):  
Nadezhda V. Azbukina ◽  
Alexander V. Lopachev ◽  
Dmitry V. Chistyakov ◽  
Sergei V. Goriainov ◽  
Alina A. Astakhova ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Inflammatory Responses ◽  
Clinical Manifestations ◽  
Wilson's Disease ◽  
Partial Least Square ◽  
Least Square ◽  
Peroxisome Proliferator ◽  
Omega 3 ◽  
Related Factors ◽  
Atpase Gene

Wilson’s disease (WD) is a rare autosomal recessive metabolic disorder resulting from mutations in the copper-transporting, P-type ATPase gene ATP7B gene, but influences of epigenetics, environment, age, and sex-related factors on the WD phenotype complicate diagnosis and clinical manifestations. Oxylipins, derivatives of omega-3, and omega-6 polyunsaturated fatty acids (PUFAs) are signaling mediators that are deeply involved in innate immunity responses; the regulation of inflammatory responses, including acute and chronic inflammation; and other disturbances related to any system diseases. Therefore, oxylipin profile tests are attractive for the diagnosis of WD. With UPLC-MS/MS lipidomics analysis, we detected 43 oxylipins in the plasma profiles of 39 patients with various clinical manifestations of WD compared with 16 healthy controls (HCs). Analyzing the similarity matrix of oxylipin profiles allowed us to cluster patients into three groups. Analysis of the data by VolcanoPlot and partial least square discriminant analysis (PLS-DA) showed that eight oxylipins and lipids stand for the variance between WD and HCs: eicosapentaenoic acid EPA, oleoylethanolamide OEA, octadecadienoic acids 9-HODE, 9-KODE, 12-hydroxyheptadecatrenoic acid 12-HHT, prostaglandins PGD2, PGE2, and 14,15-dihydroxyeicosatrienoic acids 14,15-DHET. The compounds indicate the involvement of oxidative stress damage, inflammatory processes, and peroxisome proliferator-activated receptor (PPAR) signaling pathways in this disease. The data reveal novel possible therapeutic targets and intervention strategies for treating WD.

scholarly journals Monitoring of Biochemical Compounds and Fatty Acid in Marine Microalgae from the East Coast of Thailand

2018 ◽  
Vol 17 (4) ◽  
pp. 334-347
Author(s):  
Kwanchayanawish MACHANA ◽  
Amonrat KANOKRUNG ◽  
Sirinart SRICHAN ◽  
Boonyadist VONGSAK ◽  
Maliwan KUTAKO ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Fatty Acid ◽  
East Coast ◽  
Predictive Accuracy ◽  
Partial Least Square ◽  
Least Square ◽  
Biodiesel Production ◽  
Fatty Acid Profiles ◽  
Omega 3 ◽  
Ft Ir

Determinations of fatty acid profiles of five microalgae; Amphora sp., Chaetoceros sp., Melosira sp., Bellerochae sp., and Lithodesmium sp., from the east coast of Thailand were evaluated by conventional Gas Chromatography-Flame Ionization Detector (GC-FID). The results exhibited that the fatty acids suitable for biodiesel production were the most frequent entities encountered in all microalgae profiles. The GC chromatogram of fatty acid profiles in microalgae showed that both Amphora sp. and Chaetoceros sp. comprised essential omega-3 fatty acids, eicosapentaenoic acid (EPA), and docosahexaenoic acid (DHA). Additionally, this study assessed whether Fourier Transform infrared (FT-IR) microspectroscopy could be used to evaluate and monitor the biochemical compositions of microalgae, including lipid, carbohydrate, and protein profiles, by using colorimetric methods. Results showed that FT-IR spectra combined with biochemical values of lipid, carbohydrate, and protein contents were used as predictive models generated by partial least square (PLS) regression. Cross-validation of the lipid, protein, and carbohydrate models showed high degrees of statistical accuracy with RMSECV values of approximately 0.5 - 3.22 %, and a coefficient of regression between the actual and predicted values of lipids, carbohydrates, and proteins were 92.66, 95.73, and 96.43 %, respectively. The RPD values were all high (> 3), indicating good predictive accuracy. This study suggested that FT-IR could be a tool for the simultaneous measurement of microalgae composition of biochemical contents in microalgae cells.

scholarly journals GENETIC DIAGNOSTICS AND CLINICAL FEATURES OF WILSON’S DISEASE IN CHILDREN

2020 ◽  
Vol 2 ◽  
pp. 3-9
Author(s):  
Ivanna Haiboniuk ◽  
Marta Dats-Opoka ◽  
Halyna Makukh ◽  
Yaryna Boyko ◽  
Igor Kiselyk
Keyword(s):  
Nervous System ◽  
Genetic Analysis ◽  
Wilson’S Disease ◽  
Clinical Manifestations ◽  
Wilson's Disease ◽  
Hereditary Diseases ◽  
Genetic Diagnostics ◽  
Atp7b Gene ◽  
Hepatobiliary System ◽  
Child Age

A disorder of copper metabolism at Wilson’s disease (WD), conditioned by a mutation of adenosine thriphospate P-type gene (ATP7B), results in irreversible changes in the liver and in the nervous system. Mortality is high at WD, but it is one of hereditary diseases, well subjected to the therapy. The disease is manifested in the early age, but its clinical course in children is symptomless that essentially complicates diagnostics. A single reliable method is genetic analysis for revealing mutations in ATP7B gene. The aim of the work was to analyze clinical manifestations and course of Wilson’s disease cases, genetically verified in children by detecting mutations of ATP7B gene. The research group included children of 6-17 years old with different injury degrees of the hepatobiliary system. According to results of the molecular-genetic analysis, the most spread allele variant of ATP7B gene (H1069Q) in Europe was confirmed in 10 patients of child age, including 4 cases of homozygosity. In 10 cases of the confirmed diagnosis of Wilson’s disease in child age in 100% (in all 10) of persons, a clinical manifestation was characterized by disorders from the hepatobiliary system, and only in 1 (10 %) – changes from the nervous system. At raising the level of transaminase in children, even at the normal bilirubin level and negative tests for viral hepatitis, it is recommended to carry out genetic testing for Wilson’s disease

scholarly journals Association of variants in the CP, ATOX1 and COMMD1 genes with Wilson disease symptoms in Latvia

2019 ◽  
Vol 22 (2) ◽  
pp. 37-42
Author(s):  
A Zarina ◽  
I Tolmane ◽  
Z Krumina ◽  
AI Tutane ◽  
L Gailite
Keyword(s):  
Wilson’S Disease ◽  
Clinical Symptoms ◽  
Direct Sequencing ◽  
Clinical Manifestations ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Allelic Variants ◽  
Functional Changes ◽  
Pathogenic Variants ◽  
Genotype Frequencies

AbstractWilson’s disease (WD) is a copper metabolism disorder, caused by allelic variants in the ATP7B gene. Wilson’s disease can be diagnosed by clinical symptoms, increased copper and decreased cerulopasmin levels, which could all also be by other genetic variants beyond the ATP7B gene, e.g., disturbed ceruloplasmin biosynthesis can be caused by pathogenic allelic variants of the CP gene. Copper metabolism in the organism is affected by several molecules, but pathogenic variants and related phenotypes are described with COMMD1 and ATOX1 genes. The aim of the study was to test other genes, CP, ATOX1 and COMMD1, for possible influence to the manifestation of WD. Patients were enrolled on the basis of Leipzig’s diagnostic criteria, 64 unrelated patients with confirmed WD. Direct sequencing of promoter region of the CP gene and ATOX1 and COMMD1 gene exons was conducted. Statistically significant differences were found between the two variants in the CP gene and the ATP7B genotype (rs66508328 variant AA genotype and the rs11708215 variant GG genotype) were more common in WD patients with an unconfirmed ATP7B genotype. One allelic (intronic) variant was found in the ATOX1 gene without causing the functional changes of the gene. Three allelic variants were identified in the COMMD1 gene. No statistically significant differences were found between allele and genotype frequencies and the first clinical manifestations of WD. Different variants of the CP gene contributed to a WD-like phenotype in clinically confirmed WD patients with neurological symptoms and without identified pathogenic variants in the ATP7B gene. Allelic variants in the ATOX1 and COMMD1 genes do not modify the clinical manifestation of WD in Latvian patients. (266 words)

Assessing Impact of Human Capital, SRHRM and Employee Related Factors on Firm Performance

2019 ◽  
Vol 04 (02) ◽  
pp. 1850018 ◽  
Author(s):  
Udayan Chanda ◽  
Praveen Goyal
Keyword(s):  
Human Capital ◽  
Organizational Performance ◽  
Manufacturing Sector ◽  
Employee Performance ◽  
Employee Commitment ◽  
Partial Least Square ◽  
Least Square ◽  
Manufacturing Companies ◽  
Related Factors ◽  
Individual Level

In today’s competitive environment, the Indian manufacturing sector is feeling the need to develop new strategies to increase employee performance by improving the job satisfaction and reducing stress. Improving employee performance is one of the important drivers of the organization’s growth. In recent years, organizations are also investing a great deal on human capital to capitalize on employee productivity. The objective of this study is to identify and assess the association among different individual level factors and their impact on the organization performance in the Indian Manufacturing companies. Partial least square (PLS) approach was used to examine the relationships among various factors that lead to employee commitment and organizational performance. Results of this study can provide an important reference for both academicians and practitioners for effectively improving employee satisfaction, employee commitment to increase the economic performance of the organization.

Wilson’s disease

Open Medicine ◽  
2010 ◽  
Vol 5 (2) ◽  
pp. 145-149
Author(s):  
Mehmet Hursitoglu ◽  
Mehmet Cikrikcioglu ◽  
Ahmet Danalioglu ◽  
Tufan Tukek
Keyword(s):  
Wilson’S Disease ◽  
Clinical Manifestations ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Copper Accumulation ◽  
Genetic Studies ◽  
Initiation Of Therapy ◽  
The Brain ◽  
Underlying Pathophysiology

AbstractWilson’s disease is an autosomal-recessive disorder caused by mutation in the ATP7B gene. Absent or reduced function of ATP7B protein leads to decreased hepatocellular excretion of copper into bile. Subsequent copper accumulation, first in the liver but ultimately in the brain and other tissues, produces different clinical manifestations such as hepatic, neurological, hematological, ophthalmological, and psychiatric problems. Diagnosis is based on clinical suspicion, parameters of copper metabolism, ophthalmic examination (Kayser-Fleischer rings) and a liver biopsy. Genetic studies are of limited use. Early diagnosis and initiation of therapy with chelators and therapeutic plasma exchange therapy are essential for prognosis. Liver transplantation corrects the underlying pathophysiology and can be lifesaving in fulminant hepatic failure. Screening of siblings and 1st degree relatives of the patients is also important.

scholarly journals Metabolomics of Ginger Based on Ultra-Performance Liquid Chromatography Coupled with Quadrupole Time-of-Flight Mass Spectrometry Technology

2020 ◽  
Author(s):  
Hui Yan ◽  
Dongqian Zou ◽  
Guisheng Zhou ◽  
Hanwen Yu ◽  
Penghui Li ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Liquid Chromatography ◽  
Quality Evaluation ◽  
Time Of Flight ◽  
Ultra Performance Liquid Chromatography ◽  
Partial Least Square ◽  
Least Square ◽  
Related Factors ◽  
Flight Mass Spectrometry ◽  
Mass Spectrometry Technology

Abstract Objectives Dried ginger and ginger are the same type of medicine and food. The differential components of ginger and dried ginger, dried ginger and ginger charcoal were investigated. Materials and Methods The experimental materials were divided into three sample groups: the ginger group, dried ginger group and ginger charcoal group. The ginger group, dried ginger group and ginger charcoal group were qualitatively analyzed by ultra-performance liquid chromatography coupled with quadrupole time-of-flight mass spectrometry (UPLC-Q-TOF-MS/MS). The data were processed by Marker View Software. Principal component analysis (PCA) and orthogonal partial least-square discriminant analysis (OPLS-DA) were performed with SIMCA 13.0 Software. The differential components of the ginger group and dried ginger group as well as the dried ginger group and ginger charcoal group with a VIP>2 (p<0.05), were identified with PeakView 1.2 Software. Results Ten differential components, including 6-gingerol, 8-gingerol and 10-gingerol, were identified between the ginger group and dried ginger group; 13 differential components, including 6-shogaol, 10-gingerol and zingiberone, were identified between the dried ginger group and ginger charcoal group. Conclusions The main differential components between the ginger group and dried ginger group, dried ginger group and ginger charcoal group were gingerols and diphenylheptanes. Based on metabolomics analysis of the chemical composition of ginger medicinal materials, effects and other related factors, it is recommended that 6-gingerol, 6-shogaol and zingiberone should be used as indicative components for the respective quality evaluation of ginger, dried ginger and ginger charcoal. The results of this study may provide a basis for the reasonable quality evaluation of ginger medicinal materials.

scholarly journals Wilson's disease: A rare autosomal recessive disorder of copper metabolism

2014 ◽  
Vol 4 (2) ◽  
pp. 51-53
Author(s):  
RR Pradhan ◽  
J Gupta
Keyword(s):  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Clinical Manifestations ◽  
Copper Toxicity ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Medical College ◽  
Ocular Manifestations ◽  
Membrane Bound

Wilson’s disease is an autosomal recessive disorder caused by mutations in the ATP7B gene, a membrane-bound copper-transporting ATPase. Clinical manifestations are caused by copper toxicity and primarily involve the liver, the brain and the eye. Because effective treatment is available, it is important to make this diagnosis early. We report a patient who developed features of neurological and ocular manifestations: incoordination and tremor and blurring of vision with presence of Kayser-Fleischer ring circling the cornea but no signs of hepatic dysfunction. DOI: http://dx.doi.org/10.3126/jcmc.v4i2.10866 Journal of Chitwan Medical College 2014; 4(2): 51-54

Sign in / Sign up

Export Citation Format

Share Document