scholarly journals Clinical case of combined genetic pathology in a patient

2020 ◽  
Vol 92 (12) ◽  
pp. 180-184
Author(s):  
E. A. Losik ◽  
I. I. Yakushina ◽  
M. R. Skhirtladze ◽  
N. P. Balahonova ◽  
V. V. Kerchev ◽  
...  
Keyword(s):  
Clinical Case ◽  
Blood Lipid ◽  
Protective Role ◽  
Alcoholic Beverages ◽  
Atherosclerosis Progression ◽  
Indirect Bilirubin ◽  
Gilbert Syndrome ◽  
Elevated Bilirubin ◽  
Genetic Combination ◽  
Wrist Flexors

Family hypercholesterolemia (HSX) is a form of genetically deterministic increase in blood lipid levels associated with a high risk of cardiovascular disease, usually at a young age. HSX is a common genetic disease found in the general population in most countries in 1:500 people. Clinically xantomas are found in achilles tendor and wrist flexors, lipoid arc of the cornea, concentration of total cholesterol and low-density lipoproteins is 4.911.6 mmol/l. Gilberts syndrome is a hereditary benign hyperbilirubinium, associated with a decrease in the functional activity of the liver enzyme uridinfosfat-glucuronosil transferase. Clinically, this syndrome appers in intermittent jaundice, which is provoked by physical activity, consumption of alcoholic beverages, insulation and an increase in the level of indirect bilirubin within 20100 micromol/ml. The article presents a rare clinical case of genetic combination of HSC SSC and Gilbert syndrome a young patient has and discusses the elevated bilirubin levels protective role in the atherosclerosis progression in Gilbert syndrome.

scholarly journals A patient with epilepsy suffering from repeatedly hyperbilirubinemia caused by Gilbert Syndrome: a case report and literatures review

2019 ◽  
Author(s):  
Yao-yao Zhang ◽  
Yong-li Jiang ◽  
Chang-geng Song ◽  
Zhi-han Zhao ◽  
Fang Yuan ◽  
...  
Keyword(s):  
Valproic Acid ◽  
Liver Biopsy ◽  
Indirect Bilirubin ◽  
Gilbert Syndrome ◽  
Hepatic Diseases ◽  
Whole Exome ◽  
Elevated Bilirubin ◽  
Generalized Epilepsy ◽  
Toxic Drugs ◽  
Dose Dependent

Abstract Background: Certain antiepileptic drugs (AEDs) such as valproic acid (VPA) and lamotrigine (LTG) would bring some abnormalities on liver function, ranging from mild malfunction of liver tests to serious hepatotoxicity. The former manifests temporary and reversible elevation of bilirubin and liver enzyme, which is usually dose-dependent and the abnormality can return to normal shortly after the drug was withdrawn. Levetiracetam (LEV), as a newly broad-spectrum AED with relatively fewer side-effects and fewer drug interactions, is increasingly used as adjunctive therapy to treat generalized epilepsy. Gilbert syndrome（GS）is characterized by mild, chronic, intermittent unconjugated hyperbilirubinemia without other hepatic diseases. Fasting, stress, along with some liver toxic drugs would make it clinically apparent. However, when GS co-exists with epilepsy, how to differentiate which one is responsible for the abnormality of bilirubin poses a challenge to us. We herein describes a patient with epilepsy complicated by mildly and intermittently elevated bilirubin, and after various examinations especially for whole-exome sequencing（WES）and liver biopsy, we made a definite diagnosis of GS. Case presentation: A 25-year-old male with epilepsy suffering from intermittently and mildly elevated bilirubin, and relevant imaging information led us consider the diagnosis of idiopathic generalized epilepsy (IGE). After administration of AEDs, the indirect bilirubin remained still slightly elevated even while taking LEV. Then he was referred to the department of gastroenterology in our hospital, the results of diagnostic tests, clinical manifestation, imaging studies, WES and liver biopsy all made contributions to our diagnosis of GS rather than the hepatic injury induced by AEDs. Conclusions: This report presents us with a case of an epilepsy patient complicated by repeatedly elevated bilirubin and finally was diagnosed with GS. By referring to literatures and genetic testing, though, no shared genetic and pathophysiological basis between epilepsy and GS was found, and enzymes responsible for the metabolism of AEDs took no part in the pathogenesis of GS. Our experiences will help clinicians to better differentiate the etiology of repeatedly elevated bilirubin of epilepsy patients during the process of treatment. Key words: Epilepsy, Gilbert syndrome, Valproic acid, Lamotrigine, Levetiracetam, hyperbilirubinemia.

scholarly journals HDL Inhibited Atherosclerosis Induced by Radiation Injury

2020 ◽  
Author(s):  
Jin Xie ◽  
Ke Zhu ◽  
Qingya Wang ◽  
Pei Zhao ◽  
Lihua Pan ◽  
...  
Keyword(s):  
Western Blotting ◽  
Cell Damage ◽  
Blood Lipid ◽  
Underlying Mechanism ◽  
Protective Role ◽  
Uvb Radiation ◽  
Aortic Endothelial Cells ◽  
Akt Phosphorylation ◽  
Apoptosis Protein ◽  
Apoptosis Process

Abstract Background- HDL inhibits atherosclerosis development from radiation damage, nonetheless, the underlying mechanism is yet to be defined.Methods-This study used radiation patients along with cultured mouse aortic endothelial cells (MAECs) to investigate the process. Firstly, 158 patients from the oncology department of Jingzhou hospital who received radiation after neck cancers participated, and their arterial function was monitored by B ultrasound. Similarly, HDL and other blood lipid indexes were also tested. Then, MAECs were isolated and cultured and passed through MTT assay to test the HDL protective role on UVB radiation along with western blotting to test some apoptosis protein expression and possible molecules.Results-Firstly, those patients with high HDL levels were less likely to develop atherosclerosis, with statistical differences. We observed that MAECs treated with UVB were damaged significantly however HDL reversed the cell damage in a dose-depended manner. In the meantime, the apoptosis process was assessed and found that HDL inhibited the apoptosis caused by UVB. Western blotting results showed that HDL enhanced phosphatidylinositol 3-kinase (PI3K) in addition to Akt phosphorylation in MAECs.Conclusion-These results suggest that HDL protected UVB-mediated apoptosis by activation of a mechanism involving PI3K/Akt signaling pathway.

Gilbert syndrome and ischemic heart disease: a protective effect of elevated bilirubin levels

2002 ◽  
Vol 160 (2) ◽  
pp. 449-456 ◽  
Author(s):  
Libor Vı́tek ◽  
Milan Jirsa ◽  
Marie Brodanová ◽  
Milan Kaláb ◽  
Zdeněk Mareček ◽  
...  
Keyword(s):  
Heart Disease ◽  
Ischemic Heart Disease ◽  
Protective Effect ◽  
Ischemic Heart ◽  
Gilbert Syndrome ◽  
Elevated Bilirubin

scholarly journals Protective Role for TLR4 Signaling in Atherosclerosis Progression as Revealed by Infection with a Common Oral Pathogen

2012 ◽  
Vol 189 (7) ◽  
pp. 3681-3688 ◽  
Author(s):  
Chie Hayashi ◽  
George Papadopoulos ◽  
Cynthia V. Gudino ◽  
Ellen O. Weinberg ◽  
Kenneth R. Barth ◽  
...  
Keyword(s):  
Protective Role ◽  
Tlr4 Signaling ◽  
Oral Pathogen ◽  
Atherosclerosis Progression

Abstract 265: Platelet C-Type Lectinlike (CLEC)-2 Receptor Plays a Protective Role Against Development of Atherosclerosis in Atherosclerosis-Prone Mice

2014 ◽  
Vol 34 (suppl_1) ◽  
Author(s):  
Marie Lordkipanidze ◽  
Matthew J Harrison ◽  
Steve P Watson ◽  
G E Rainger
Keyword(s):  
High Fat Diet ◽  
Blood Lipid ◽  
Protective Role ◽  
Plaque Burden ◽  
Platelet Glycoprotein ◽  
High Fat ◽  
T Helper 17 ◽  
Platelet Surface ◽  
Atherosclerotic Lesions

Background: Platelets can influence progression of plaque formation by facilitating recruitment of inflammatory cells at the sites of atherosclerotic lesions. A C-type lectin-like receptor, CLEC-2, abundantly expressed on the platelet surface, has been shown to regulate lymphatic development in utero though an interaction with Podoplanin. Interestingly, lymphatic vasculature is increased in ischemic and inflamed hearts, and in cholesterol-rich atherosclerotic lesions. Moreover, Podoplanin expression is up-regulated on inflammatory macrophages and on T-helper 17 cells. However, the role of the Podoplanin - CLEC-2 interaction in atherosclerosis remains unknown. Aim: We sought to investigate the role of CLEC-2 on atherosclerotic development in ApoE-deficient mice. Methods: CreERT.CLEC-2fl/fl x ApoE-/- and litter-matched ApoE-/- mice were treated with tamoxifen at the age of 9 weeks and were put on a high-fat diet for 6 weeks. Animals were killed at the age of 16 weeks, when platelet function assays and atherosclerosis assays were carried out. Results: Expression of CLEC-2 was abolished in tamoxifen-treated CreERT.CLEC-2fl/fl x ApoE-/- mice (n=8), whereas normal levels were seen in ApoE-/- controls (n=10) also treated with tamoxifen. CreERT.CLEC-2fl/fl x ApoE-/- and ApoE-/- mice had similar baseline characteristics, comparable levels of platelet glycoprotein expression (GPIb, GPIIbIIIa and GPVI) and normal platelet responses to platelet agonists (collagen-related peptide, PAR-4 peptide, ADP and arachidonic acid). Blood lipid levels were comparable between CreERT.CLEC-2fl/fl x ApoE-/- and control animals. Atherosclerotic plaque burden was significantly higher in the aortas of CreERT.CLEC-2fl/fl x ApoE-/- mice fed a high-fat diet for 6 weeks compared with their ApoE-/- counterparts. The higher plaque burden was seen consistently throughout the aorta, but reached significance at the level of whole aorta, abdominal aorta, outer curvature and the left subclavian region. This was seen in both male and female animals. Conclusions: The platelet-borne CLEC-2 receptor appears to have a protective role against atherogenesis in atheroprone mice. Further research to investigate the underlying mechanisms is warranted.

scholarly journals An Epileptic Patient with Recurrent Hyperbilirubinemia Caused by Gilbert Syndrome

2020 ◽  
Vol 14 (1) ◽  
pp. 39-47
Author(s):  
Yaoyao Zhang ◽  
Yongli Jiang ◽  
Fang Yuan ◽  
Changgeng Song ◽  
Zhihan Zhao ◽  
...  
Keyword(s):  
Valproic Acid ◽  
Liver Function ◽  
Liver Biopsy ◽  
Diagnostic Tests ◽  
Epileptic Patient ◽  
Liver Function Tests ◽  
Imaging Studies ◽  
Indirect Bilirubin ◽  
Gilbert Syndrome ◽  
Whole Exome

Gilbert syndrome (GS) is characterized by intermittent indirect bilirubin elevation. Several antiepileptic drugs (AEDs) impair the liver function to different degrees, such as valproic acid, lamotrigine, phenobarbital, phenytoin, and carbamazepine. Herein, we present the case of a 26-year-old epileptic patient with frequently recurring mild hyperbilirubinemia during taking AEDs. After repeated adjustment of the doses and types of AEDs, the bilirubin level still remained elevated. He was then referred to the Gastroenterology Department. The results of diagnostic tests, clinical manifestation, imaging studies, liver biopsy and whole-exome sequencing all made contributions to our conclusion that GS played an important role in the elevation of bilirubin. Ultimately, his seizure was controlled by levetiracetam (500 mg per day) and he was advised to periodically undergo the liver function tests.

scholarly journals Differentiating Gilbert Syndrome from Crigler Najjar Syndrome Type 2 by Phenobarbitone Test

2015 ◽  
Vol 35 (1) ◽  
pp. 82-84
Author(s):  
R Sinha ◽  
S Dalal ◽  
K Sodhi
Keyword(s):  
Autosomal Dominant ◽  
Enzyme Level ◽  
Case Series ◽  
Syndrome Type ◽  
Underlying Liver Disease ◽  
Unconjugated Hyperbilirubinemia ◽  
Indirect Bilirubin ◽  
Gilbert Syndrome ◽  
Bilirubin Metabolism

Gilbert syndrome characterized by jaundice with intermittent elevations of indirect bilirubin, in the absence of haemolysis or underlying liver disease, has both autosomal dominant and recessive inheritance. Crigler-Najjar syndrome type II (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). We report 20 children between age 5 to 15 years with unconjugated hyperbilirubenemia who were given seven days of oral phenobarbitone (5mg/kg/day) and decrease in level of bilirubin was noted. There was only 30-40% reduction of bilirubin in Crigler Najjar Syndrome Type 2 compared to Gilberts Syndrome in which bilirubin level normalised. This case series highlights the importance of simple test to differentiate these two conditions. This test is also very helpful in a place where enzyme level and mutational study cannot be done.J Nepal Paediatr Soc 2015;35(1):82-84

scholarly journals HDL Inhibited Atherosclerosis Induced by Radiation Injury

2020 ◽  
Author(s):  
Jin Xie ◽  
Ke Zhu ◽  
Qingya Wang ◽  
Pei Zhao ◽  
Lihua Pan ◽  
...  
Keyword(s):  
Western Blotting ◽  
Cell Damage ◽  
Blood Lipid ◽  
Protective Role ◽  
Uvb Radiation ◽  
Phosphatidylinositol 3 Kinase ◽  
Aortic Endothelial Cells ◽  
Akt Phosphorylation ◽  
Atherosclerosis Development ◽  
Apoptosis Process

Abstract Background- HDL inhibits atherosclerosis development from radiation damage; however, the mechanism for this process has not been fully defined. Methods- This study used radiation patients and cultured mouse aortic endothelial cells (MAECs) to investigate the process. Firstly, 158 patients from oncology department of Jingzhou hospital who have got radiation after neck cancers, the arterial function was monitored by B ultrasound, HDL and other blood lipid indexes were tested.Then, MAECs were isolated and cultured, MTT assay was used to test the HDL protective role on UVB radiation, along with this, western blotting was proceed to test some apotosis protein expression and possible molecular.Results- Firstly, those patients with high HDL levels were less likely to develop atherosclerosis, with statistical differences. We observed that MAECs treated with UVB was damaged significantly; HDL reversed the cell damage as dose-depended manner. At mean time, the apoptosis process was assessed and found that HDL inhibited the apoptosis caused by UVB. Western blotting results showed that HDL enhanced phosphatidylinositol 3-kinase (PI3K) and Akt phosphorylation in MAECs.Conclusion- These results suggest that HDL protected UVB-mediated appotosis by activation of a mechanism involving PI3K/Akt signal pathway.

scholarly journals Protective Role of Antioxidants in Alcoholic Liver Disease

Med Phoenix ◽  
2018 ◽  
Vol 3 (1) ◽  
pp. 75-88 ◽  
Author(s):  
Manoranjan Adak
Keyword(s):  
Oxidative Stress ◽  
Liver Disease ◽  
Alcoholic Liver Disease ◽  
Liver Diseases ◽  
Animal Studies ◽  
Radical Scavenging ◽  
Natural Antioxidants ◽  
Protective Role ◽  
Alcoholic Beverages

 Excessive consumption of alcoholic beverages is a serious cause of liver disease worldwide. Any abnormality or dysfunction of the liver leads major impairment of the organ function, which in turn, influences the health of the individual. Alcoholic liver disease (ALD) includes fatty liver, hepatic inflammation, liver cirrhosis, fibrosis, alcoholic hepatitis and finally hepatocellular carcinoma. The metabolism of ethanol generates reactive oxygen species, which play a significant role in the deterioration of alcoholic liver disease. Oxidative stress has been considered as a conjoint pathological mechanism, and it contributes to initiation and progression of liver injury. Antioxidants, phytochemicals, such as polyphenols, regulate the expression of ALDassociated proteins and peptides, namely, catalase, superoxide dismutase, glutathione, glutathione peroxidase, and glutathione reductase. Application of antioxidants signifies a rational curative strategy to prevent and cure liver diseases involving oxidative stress. Although conclusions drawn from clinical studies remain uncertain, animal studies have revealed the promising in-vivo therapeutic effect of antioxidants on liver diseases. Natural antioxidants contained in edible or medicinal plants often possess strong antioxidant and free radical scavenging abilities as well as anti-inflammatory action, which are also supposed to be the basis of other bioactivities and health benefits. Med Phoenix. Vol. 3, Issue. 1, 2018, Page: 75-88                                                         

Sign in / Sign up

Export Citation Format

Share Document