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The missense mutation in Abcg5 gene in spontaneously hypertensive rats (SHR) segregates with phytosterolemia but not hypertension
Jianliang Chen, Ashok Batta, Shuqin Zheng, Wayne R Fitzgibbon, Michael E Ullian, Hongwei Yu, Patrick Tso, Gerald Salen, Shailendra B Patel
BMC Genetics , 2005, DOI: 10.1186/1471-2156-6-40
Abstract: To investigate whether the missense change in Abcg5 is responsible for the sitosterolemia we performed a segregation analysis in 103 F2 rats from a SHR × SD cross. Additionally, we measured tail-cuff blood pressure and measured intestinal lipid transport to identify possible mechanisms whereby this mutation causes sitosterolemia.Segregation analysis showed that the inheritance of the Gly583Cys mutation Abcg5 segregated with elevated plant sterols and this pattern was recessive, proving that this genetic change is responsible for the sitosterolemia in these rat strains. Tail-cuff monitoring of blood pressure in conscious animals showed no significant differences between wild-type, heterozygous and homozygous mutant F2 rats, suggesting that this alteration may not be a significant determinant of hypertension in these rats on a chow diet.This study shows that the previously identified Gly583Cys change in Abcg5 in three hypertension-susceptible rats is responsible for the sitosterolemia, but may not be a major determinant of blood pressure in these rats.Sitosterolemia is an autosomal recessive disease, characterized by significantly increased plasma levels of plant sterols (such as sitosterol, campesterol), and is associated with premature atherosclerotic disease [1]. This disease has been mapped to a single locus, STSL, on human chromosome 2p21 [2,3]. Mutations in both alleles of one of two genes, ABCG5 or ABCG8, that comprise this locus, are now known to cause this disease [4-6]. No phytosterolemic patient with a single mutant ABCG5 allele and a mutant ABCG8 allele has been reported, suggesting these genes are not only linked physically, but their protein products may act as obligate heterodimers. ABCG5 and ABCG8 encode for sterolin-1 and sterolin-2 respectively. These genes are expressed in the liver, gall bladder and intestine and are implicated in determining biliary sterol excretion and selectivity of sterol absorption at the apical surfaces of the enterocytes [7-
Effect of Five Single Nucleotide Polymorphisms of ABCG5 and ABCG8 Genes on Ezetimibe Lipid-Lowering Response
Caama?o,José M; Saavedra,Nicolás; Zambrano,Tomás; Lanas,Fernando; Salazar,Luis A;
International Journal of Morphology , 2012, DOI: 10.4067/S0717-95022012000200055
Abstract: in this study we evaluated the possible association between five single nucleotide polymorphisms in abcg5 (rs6720173) and abcg8 (rs11887534, rs4148211, rs4148217 and rs6544718) genes and ezetimibe response in chilean hypercholesterolemic subjects. a total of 60 non-related hypercholesterolemic subjects, aged 18 to 65 years old were included in this study. these subjects were treated with ezetimibe (10mg/day) during one month. the abcg5 and abcg8 genotypes were assessed by pcr-rflp. the genotype distribution of the abcg5/abcg8 polymorphisms was in hardy-weinberg equilibrium. our results showed that the investigated polymorphisms were not associated with the response to ezetimibe. nevertheless, the t allele of rs6544718 polymorphism was related to higher baseline levels of ldl-cholesterol (p<0.001). in addition, the g allele for the rs4148211 polymorphism was associated with greater baseline concentrations of triglycerides (p=0.019). this allele was also associated with lower concentrations of hdl-cholesterol (p=0.027), after ezetimibe treatment. our results suggest that the studied polymorphisms do not affect the therapeutic response to ezetimibe in the evaluated subjects.
Effect of Five Single Nucleotide Polymorphisms of ABCG5 and ABCG8 Genes on Ezetimibe Lipid-Lowering Response Efecto de Cinco Polimorfismos de los Genes ABCG5 y ABCG8 sobre la Respuesta Hipolipemiante a Ezetimiba  [cached]
José M Caama?o,Nicolás Saavedra,Tomás Zambrano,Fernando Lanas
International Journal of Morphology , 2012,
Abstract: In this study we evaluated the possible association between five single nucleotide polymorphisms in ABCG5 (rs6720173) and ABCG8 (rs11887534, rs4148211, rs4148217 and rs6544718) genes and ezetimibe response in Chilean hypercholesterolemic subjects. A total of 60 non-related hypercholesterolemic subjects, aged 18 to 65 years old were included in this study. These subjects were treated with ezetimibe (10mg/day) during one month. The ABCG5 and ABCG8 genotypes were assessed by PCR-RFLP. The genotype distribution of the ABCG5/ABCG8 polymorphisms was in Hardy-Weinberg equilibrium. Our results showed that the investigated polymorphisms were not associated with the response to ezetimibe. Nevertheless, the T allele of rs6544718 polymorphism was related to higher baseline levels of LDL-cholesterol (p<0.001). In addition, the G allele for the rs4148211 polymorphism was associated with greater baseline concentrations of triglycerides (P=0.019). This allele was also associated with lower concentrations of HDL-cholesterol (P=0.027), after ezetimibe treatment. Our results suggest that the studied polymorphisms do not affect the therapeutic response to ezetimibe in the evaluated subjects. En este estudio se evaluó la posible asociación entre cinco polimorfismos de nucleótido único en los genes ABCG5 (rs6720173) y ABCG8 (rs11887534, rs4148211, rs4148217 y rs6544718) y la respuesta a ezetimiba en pacientes hipercolesterolémicos chilenos. Un total de 60 individuos hipercolesterolemicos, no relacionados, con edades entre 18 y 65 a os fueron incluidos. Estos sujetos fueron tratados con ezetimiba (10mg/día) durante un mes. Los genotipos de ABCG5 y ABCG8 fueron evaluados por PCR-RFLP. La distribución de genotipos de los polimorfismos de ABCG5/ABCG8 se encontraba en equilibrio de Hardy-Weinberg. Nuestros resultados mostraron que los polimorfismos estudiados no se asociaron con la respuesta a la ezetimiba. Sin embargo, el alelo T del polimorfismo rs6544718 fue relacionado con niveles basales elevados de LDL-colesterol (p <0,001). Además, el alelo G para el polimorfismo rs4148211 se asoció con una mayor concentración basal de triglicéridos (p = 0,019). Este alelo también se asoció con concentraciones más bajas de HDL-colesterol (p = 0,027), después del tratamiento con ezetimiba. Nuestros resultados sugieren que los polimorfismos estudiados no afectan a la respuesta terapéutica a la ezetimiba en los sujetos evaluados.
Agenesis of Gall Bladder  [PDF]
BK Rai
Health Renaissance , 2010, DOI: 10.3126/hren.v8i2.4427
Abstract: Congenital absence of gall bladder is a very rare abnormality which is usually identified accidentally. Ultra sonography is the main diagnostic tool. It has good prognosis. Keywords : Gall bladder; agenesis; ultrasound DOI: 10.3126/hren.v8i2.4427 Health Renaissance , May-Aug 2010; Vol 8 (No.2):130-132 ?
A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol
Eric L Klett, Kangmo Lu, Astrid Kosters, Edwin Vink, Mi-Hye Lee, Michael Altenburg, Sarah Shefer, Ashok K Batta, Hongwei Yu, Jianliang Chen, Richard Klein, Norbert Looije, Ronald Oude-Elferink, Albert K Groen, Nobuyo Maeda, Gerald Salen, Shailendra B Patel
BMC Medicine , 2004, DOI: 10.1186/1741-7015-2-5
Abstract: In order to mimic the human disease, we created, by a targeted disruption, a mouse model of sitosterolemia resulting in Abcg8/sterolin-2 deficiency alone. Homozygous knockout mice are viable and exhibit sitosterolemia.Mice deficient in Abcg8 have significantly increased plasma and tissue plant sterol levels (sitosterol and campesterol) consistent with sitosterolemia. Interestingly, Abcg5/sterolin-1 was expressed in both liver and intestine in Abcg8/sterolin-2 deficient mice and continued to show an apical expression. Remarkably, Abcg8 deficient mice had an impaired ability to secrete cholesterol into bile, but still maintained the ability to secrete sitosterol. We also report an intermediate phenotype in the heterozygous Abcg8+/- mice that are not sitosterolemic, but have a decreased level of biliary sterol secretion relative to wild-type mice.These data indicate that Abcg8/sterolin-2 is necessary for biliary sterol secretion and that loss of Abcg8/sterolin-2 has a more profound effect upon biliary cholesterol secretion than sitosterol. Since biliary sitosterol secretion is preserved, although not elevated in the sitosterolemic mice, this observation suggests that mechanisms other than by Abcg8/sterolin-2 may be responsible for its secretion into bile.Absorption of dietary cholesterol from the intestine is an important part of cholesterol homeostasis and represents the initial step that allows dietary cholesterol to exert its metabolic effects. A typical western diet contains relatively equal amounts of cholesterol and non-cholesterol sterols, mainly plant sterols, of which about 55% of the dietary cholesterol is absorbed and retained compared to ~1% of the dietary non-cholesterol sterols [1-3]. Schoenheimer recognized more than 75 years ago that only cholesterol, not non-cholesterol sterols, is absorbed in the intestine, although the exact molecular mechanisms by which preferential cholesterol absorption occurs has not been fully elucidated [4]. Similarly, although
Unusual Presentation of Gall Bladder Perforation
OA Egwuonwu, GU Chianakwana, OA Ulebe, TU Mbaeri
Afrimedic Journal , 2012,
Abstract: Background: Gall bladder perforation (GBP) is a rare but life threatening complication of cholecystitis. Therefore, it continues to be an important problem for the surgeon. Aim: To report a case of perforated gall bladder mimicking perforated peptic ulcer disease. Methods: A case report of gall bladder perforation that was managed at the Nnamdi Azikiwe University Teaching Hospital. Result: A 67 years old woman who had a clinical diagnosis of perforated peptic ulcer disease secondary to chronic NSAID use but with intra-operative finding of Niemeier's type II gall bladder perforation. Conclusion: High index of suspicion is required to diagnose perforated gall bladder mimicking perforated peptic ulcer disease.
La Respuesta Terapéutica a Ezetimiba en Ratones C57BL/6 es Mediada por Cambios en la Expresión de NPC1L1, ABCG5 y ABCG8 en el Enterocito
Caama?o,José M; Saavedra,Nicolás; Wulff,Cristian; Salazar,Luis A;
International Journal of Morphology , 2012, DOI: 10.4067/S0717-95022012000200028
Abstract: proteins npc1l1, abcg5 and abcg8 are involved in the intestinal absorption of cholesterol. ezetimibe inhibits this process by blocking npc1l1, however, its effect on abcg5 and abcg8 is not yet clear. thus, the objective of this study was to evaluate in c57bl / 6 mice with diet-induced hypercholesterolemia treated with ezetimibe, the expression of npc1l1, abcg5 and abcg8 by real time pcr and western blot, in 3 groups of animals: 1, diet hypercholesterolemic d12336, 2, d12336 diet plus 5 mg/kg/ day of ezetimibe, 3, diet control. the serum level of total cholesterol was significantly different between groups (control: 1.85 ± 0.49 mmol / l; diet d12336: 3.11 ± 0.73 mmol / l; ezetimibe: 2.11 ± 0.50 mmol / l, p = 0.001). npc1l1 gene expression increased 5.4-fold in the group receiving the diet d12336 (p = 0.003). furthermore, the gene expression of abcg5 and abcg8 was not different in the group with hypercholesterolemia (p = 0.239 and p = 0.201, respectively). after treatment with ezetimibe, abcg5 gene expression was increased 15.6 times (p = 0.038). no significant differences in gene expression of npc1l1 (p = 0.134) and abcg8 (p = 0.067). regarding protein expression, the d12336 diet increased the levels of expression of npc1l1 (p = 0.022) and abcg5 (p = 0.008), treatment with ezetimibe increased the levels of npc1l1 (p = 0.048) and reduced levels of abcg5 (p = 0.036) and abcg8 (p = 0.016). in conclusion, our results suggest that both hypercholesterolemic diet as treatment with ezetimibe, in an experimental model, affect the expression levels of npc1l1, abcg5 and abcg8, suggesting that abcg5 and abcg8 are involved in lipid-lowering response to this drug. however, the mechanism by which this interaction is explained requires further study.
Agenesis of gall bladder--a diagnostic dilemma.  [cached]
Vijay K,Kocher H,Koti R,Bapat R
Journal of Postgraduate Medicine , 1996,
Abstract: A case of suspected chronic cholecystitis who underwent laparotomy, was found to have agenesis of gall bladder. Standard investigative modalities which are done for chronic cholecystitis might be fallacious and baffling. Agenesis of gall bladder should be kept in mind whenever the gall bladder is improperly visualised in routine imaging methods.
La Respuesta Terapéutica a Ezetimiba en Ratones C57BL/6 es Mediada por Cambios en la Expresión de NPC1L1, ABCG5 y ABCG8 en el Enterocito Therapeutic Response to Ezetimibe in C57BL/6 Mice is Mediated by Changes in NPC1L1, ABCG5 and ABCG8 Expression in the Enterocyte
José M Caama?o,Nicolás Saavedra,Cristian Wulff,Luis A Salazar
International Journal of Morphology , 2012,
Abstract: Las proteínas NPC1L1, ABCG5 y ABCG8 participan en la absorción intestinal de colesterol. Ezetimiba inhibe este proceso bloqueando a NPC1L1, sin embargo, su efecto sobre ABCG5 y ABCG8 aún no está claro. Así, el objetivo del presente trabajo fue evaluar en ratones C57BL/6 con hipercolesterolemia inducida por dieta y tratados con ezetimiba, la expresión de NPC1L1, ABCG5 y ABCG8 mediante PCR en tiempo real y Western blot, en 3 grupos de animales: 1, dieta hipercolesterolémica D12336; 2, dieta D12336 más 5 mg/kg/día de ezetimiba; 3, dieta control. El nivel sérico de colesterol total fue significativamente diferente entre los grupos estudiados (control: 1,85 ± 0,49 mmol/L; dieta D12336: 3,11 ± 0,73 mmol/L; ezetimiba: 2,11 ± 0,50 mmol/L, P = 0,001). La expresión génica de NPC1L1 aumentó 5,4 veces en el grupo que recibió la dieta D12336 (P = 0,003). Por otro lado, la expresión génica de ABCG5 y ABCG8 no fue diferente en el grupo con hipercolesterolemia (P = 0,239 y P = 0,201, respectivamente). Después del tratamiento con ezetimiba, la expresión génica de ABCG5 se incrementó 15,6 veces (P = 0.038). No hubo diferencias significativas en la expresión génica de NPC1L1 (P = 0,134) y ABCG8 (P = 0,067). En relación a la expresión proteica, la dieta D12336 incrementó los niveles de expresión de NPC1L1 (P = 0,022) y ABCG5 (P = 0,008); el tratamiento con ezetimiba incrementó los niveles de NPC1L1 (P = 0,048) y redujo los niveles de ABCG5 (P = 0,036) y ABCG8 (P = 0,016). En conclusión, nuestros resultados sugieren que tanto la dieta hipercolesterolémica como el tratamiento con ezetimiba, en un modelo experimental, afectan los niveles de expresión de NPC1L1, ABCG5 y ABCG8, sugiriendo que ABCG5 y ABCG8 están involucrados en la respuesta hipolipemiante a este fármaco. No obstante, el mecanismo mediante el cual se explica esta interacción requiere de un futuro estudio. Proteins NPC1L1, ABCG5 and ABCG8 are involved in the intestinal absorption of cholesterol. Ezetimibe inhibits this process by blocking NPC1L1, however, its effect on ABCG5 and ABCG8 is not yet clear. Thus, the objective of this study was to evaluate in C57BL / 6 mice with diet-induced hypercholesterolemia treated with ezetimibe, the expression of NPC1L1, ABCG5 and ABCG8 by real time PCR and Western blot, in 3 groups of animals: 1, diet hypercholesterolemic D12336, 2, D12336 diet plus 5 mg/kg/ day of ezetimibe, 3, diet control. The serum level of total cholesterol was significantly different between groups (control: 1.85 ± 0.49 mmol / L; diet D12336: 3.11 ± 0.73 mmol / L; ezetimibe: 2.11 ± 0.50 mmol / L, P = 0.00
AGENESIS OF GALL BLADDER DIAGNOSED SURPRISINGLY AT LAPAROTOMY FOR CHOLECYSTECTOMY
Fikret Aksoy,G?khan Demiral,Abdullah Alp ?z?elik
Marmara Medical Journal , 2008,
Abstract: We report a case of 55 year old female with suspected chronic cholecystitis due to cholelithiasis.She was operated and found to have agenesis of gall bladder which is an extremely rare clinical condition. Standard investigative modalities which are currently used for chronic cholecystitis might be misleading and amazing. Agenesis of gall bladder should be kept in mind whenever the gall bladder is improperly visualised in routine ultrasound methods. It is difficult to diagnose gall bladder agenesis preoperatively as investigations tend to be misleading and therefore it is diagnosed intraoperatively.
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