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The document discusses a study that measured concentrations of prothrombin, apolipoprotein A-IV, and haptoglobin in the cerebrospinal fluid (CSF) of patients with Huntington's disease (HD) compared to control patients. The study found increased levels of all three proteins in the CSF of HD patients. This suggests the proteins are produced directly in the central nervous system and their levels in CSF are not related to their serum concentrations. Elevated biomarkers in CSF could help track HD progression and indicate central nervous system involvement in the disease.
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Increased levels of prothrombin, apolipoprotein A-IV, and haptoglobin were found in the cerebrospinal fluid of Huntington's disease patients compared to controls. Proteomic studies on cerebrospinal fluid are important for determining if increases in these proteins are correlated with Huntington's disease development and could serve as specific biomarkers. While BBB integrity was maintained, the findings suggest the proteins are produced in the central nervous system and are not related to serum concentrations, indicating a role in the disease itself rather than passive diffusion from blood.
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The document discusses a study that measured the levels of prothrombin, apolipoprotein A-IV, and haptoglobin in the cerebrospinal fluid (CSF) and serum of Huntington's disease (HD) patients and control patients. The study found increased levels of all three proteins in the CSF of HD patients compared to controls. This suggests the proteins are produced in the central nervous system and may serve as biomarkers for HD. The results also indicate the blood-brain barrier remains intact in HD patients.
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This document provides information on G6PD deficiency and favism. It describes a case of a 3-year old boy presenting with pallor, red urine, and abdominal pain, which are signs of hemolytic anemia. It then discusses the characteristics of hemolytic anemia and explains that G6PD deficiency is a genetic disorder where individuals are at risk of hemolytic anemia when consuming fava beans or certain drugs due to inadequate NADPH production and antioxidant effects in red blood cells. The document concludes with treatment recommendations of blood transfusions and avoiding triggers like fava beans, certain medications, infections, and chemicals for people with G6PD deficiency.
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This document provides an overview of plasma fractionation. It begins with the composition of human blood and introduction to plasma fractionation. It then discusses the evolution of plasma fractionation, constituents of plasma for fractionation, and their clinical uses. Sources of plasma including recovered and apheresis plasma are described. The manufacturing process including fractionation methods, viral inactivation/removal, and international plasma fractionation centers are summarized. Regulatory guidelines for plasma fractionation in India are also outlined.
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This document discusses neonatal G6PD deficiency, including its epidemiology, pathogenesis, clinical presentation, diagnosis, and management. It notes that G6PD deficiency is one of the most common enzymopathies worldwide and an important cause of neonatal jaundice. The deficiency results in impaired antioxidant defense in red blood cells and can lead to hemolysis when exposed to oxidative stress. Timely diagnosis and avoiding triggering factors are important to prevent severe complications like kernicterus. Newborn screening programs have helped identify at-risk infants.
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This document summarizes information about glucose-6-phosphate dehydrogenase (G6PD) deficiency. It is an X-linked genetic disorder characterized by low levels of the G6PD enzyme. This enzyme protects red blood cells from oxidative damage. Those with the deficiency are at risk for hemolytic anemia when exposed to triggers like infections, certain foods or medications. Symptoms can include jaundice and fatigue. The deficiency provides some protection against malaria and is most common in those of African and Mediterranean descent. Management involves avoiding triggers and treating infections promptly.
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- 1. “INCREASED PROTHROMBIN, APOLIPOPROTEIN A-IV, AND HAPTOGLOBIN IN THE CEREBROESPIAL FLUID OF PATIENTS WITH HUNTINGTON´S DISEASE.” Yen-Chu Huang. Maria Camila Montufar Pantoja Heyly Milena Ortega III SEMESTER 2011 UNIVERSIDAD PONTIFICIA BOLIVARIANA
- 2. GENERAL OBJETIVE Demonstrate how Prothrombin, Apolipoprotein A-IV and Haptoglobin concentrations in CSF has an important role in the HD evolution and compare these concentrations in HD and control patients .
- 3. INTRODUCTION HD is a hereditary, degenerative brain disorder. It is caused by an unstable CAG trinucleotide. Today there are others proteins involved in HD development and symptoms (Apolopoprotein A-IV, Haptoglobin , Prothrombin) and its important to clarify throughproteomicsstudies in CSF wich are theconcentrations (up ordown) and ifthislevels of biomarkers are correlated in HD.
- 4. PROTHROMBIN Plasma protein synthesized in the liver. Itplaysanimportantfunctionin coagulation processby reaction with the thromboplastin enzyme , with Ca ++ cation and V activate factor as coenzymes. In HD prothrombin proinflammatoryagent : DISEASE STATUS BIOMARKER Xa Ca++ Va Tromboplastina
- 5. APOLIPOPROTEIN AIV (APO AIV) glycoprotein synthesized by the human intestine and liver The formation of chylomicrons acts as a signal for the induction of Apo AIV synthesis alters the activity of the enzymes (LPL and LCAT) of lipoprotein metabolism and cholesterol efflux from extrahepatic tissues Is involved in the long-term regulation of both food intake and body weight
- 6. HAPTOGLOBIN protein produced by the liver haptoglobin binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity The haptoglobin-hemoglobin complex will then be removed by the reticuloendothelial system It prevents loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin
- 7. ENFERMEDAD DE HUNITNGTON - HD Progressive neurodegenerative disorder with autosomaldominant inheritance: - MovementDisorders.- Cognitiveimpairment.- Psychiatricdisorders.
- 13. Corte de la proteína serina proteasa tripsina
- 15. WESTERN BLOT Busco proteínas especificas Uso ac Uso técnica SDS-PAGE Separación de proteínas por electroforesis en gel
- 16. ELISA Ensayo por inmunoabsorción ligado a enzimas Fosfatasa alcalina—peroxidasa de rabano Detección ag-ac 3 tipos: Ensayo tipo sandwich Ensayo competitivo Ensayo indirecto
- 17. RESULTADOS Representative Western blots of prothrombin (72 kD) and albumin (64 kD) in CSF and serum of HD patients and their correspondingcontrols.
- 18. RESULTADOS Representative Western blots of Apo A-IV (46 kD) and albumin (64 kD) in CSF and serum, respectively, of HD patients and theircorrespondingcontrols (C).
- 19. RESULTADOS Qalb, CSF haptoglobin, and serumhaptoglobinconcentration in HD patients.
- 20. DISCUSSION
- 21. CONCLUTIONS Theproteomicstudies in CFS in patients HD and control patients are veryimportanttodeterminateiftheincreaselevels of Haptoglobin, Apolipoprotein A-IV and Prothrombin are correlatedwith HD development. Itisimportanttorecognizethisproteinslikespecificsbiomarkers in HD; thatswhytheconcentrations of eachonewerequantified in CSF and serum; thusindirectlyevaluatethe BBB integrity.
- 22. CONCLUTIONS To be able to correlate the levels of these proteins with other mental diseases such as Alzheimer's, multiple sclerosis, among others; allow us to determine whether the activity of proteins mentioned in the study are a common phenomenon in a variety of neurodegenerative-tive disease or are specifically for HD. Becouseof the intact values of BBB and the increase levels of proteins, it suggest that they are produced in the CNS itself and that the relation within de concentrations of proteins in CSF has nothing to do with the concentration of these in serum.
- 23. MAPA CONCEPTUAL
- 24. MAPA CONCEPTUAL
- 25. BIBLIOGRAFIA MARTINEZ, L. Biología Molecular. ED UPB. Segunda edición. Medellín. 2011.