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Glucose-6-phosphate Dehydrogenase Deficiency
Glucose-6-phosphate dehydrogenase deficiency (G6PDD), which is the most common enzyme deficiency worldwide, is an inborn error of metabolism that predisposes to red blood cell breakdown. Most of the time, those who are affected have no symptoms. Following a specific trigger, symptoms such as yellowish skin, dark urine, shortness of breath, and feeling tired may develop. Complications can include anemia and newborn jaundice. Some people never have symptoms. It is an X-linked recessive disorder that results in defective glucose-6-phosphate dehydrogenase enzyme. Glucose-6-phosphate dehydrogenase is an enzyme which protects red blood cells, which carry oxygen from the lungs to tissues throughout the body. A defect of the enzyme results in the premature breakdown of red blood cells. This destruction of red blood cells is called hemolysis. Red blood cell breakdown may be triggered by infections, certain medication, stress, or foods such as fava beans. Depending on the specific mutati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glucose-6-phosphate Dehydrogenase
Glucose-6-phosphate dehydrogenase (G6PD or G6PDH) () is a cytosolic enzyme that catalyzes the chemical reaction : D-glucose 6-phosphate + NADP+ + H2O 6-phospho-D-glucono-1,5-lactone + NADPH + H+ This enzyme participates in the pentose phosphate pathway (see image), a metabolic pathway that supplies reducing energy to cells (such as erythrocytes) by maintaining the level of the co-enzyme nicotinamide adenine dinucleotide phosphate (NADPH). The NADPH in turn maintains the level of glutathione in these cells that helps protect the red blood cells against oxidative damage from compounds like hydrogen peroxide. Of greater quantitative importance is the production of NADPH for tissues involved in biosynthesis of fatty acids or isoprenoids, such as the liver, mammary glands, adipose tissue, and the adrenal glands. G6PD reduces NADP+ to NADPH while oxidizing glucose-6-phosphate. Glucose-6-phosphate dehydrogenase is also an enzyme in the Entner–Doudoroff pathway, a type of glycoly ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glucose-6-phosphate Dehydrogenase
Glucose-6-phosphate dehydrogenase (G6PD or G6PDH) () is a cytosolic enzyme that catalyzes the chemical reaction : D-glucose 6-phosphate + NADP+ + H2O 6-phospho-D-glucono-1,5-lactone + NADPH + H+ This enzyme participates in the pentose phosphate pathway (see image), a metabolic pathway that supplies reducing energy to cells (such as erythrocytes) by maintaining the level of the co-enzyme nicotinamide adenine dinucleotide phosphate (NADPH). The NADPH in turn maintains the level of glutathione in these cells that helps protect the red blood cells against oxidative damage from compounds like hydrogen peroxide. Of greater quantitative importance is the production of NADPH for tissues involved in biosynthesis of fatty acids or isoprenoids, such as the liver, mammary glands, adipose tissue, and the adrenal glands. G6PD reduces NADP+ to NADPH while oxidizing glucose-6-phosphate. Glucose-6-phosphate dehydrogenase is also an enzyme in the Entner–Doudoroff pathway, a type of glycoly ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kernicterus
Kernicterus is a bilirubin-induced brain dysfunction. The term was coined in 1904 by Christian Georg Schmorl. Bilirubin is a naturally occurring substance in the body of humans and many other animals, but it is neurotoxic when its concentration in the blood is too high, a condition known as hyperbilirubinemia. Hyperbilirubinemia may cause bilirubin to accumulate in the grey matter of the central nervous system, potentially causing irreversible neurological damage. Depending on the level of exposure, the effects range from clinically unnoticeable to severe brain damage and even death. When hyperbilirubinemia increases past a mild level, it leads to jaundice, raising the risk of progressing to kernicterus. When this happens in adults, it is usually because of liver problems. Newborns are especially vulnerable to hyperbilirubinemia-induced neurological damage, because in the earliest days of life, the still-developing liver is heavily exercised by the breakdown of fetal hemoglo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neonatal Jaundice
Neonatal jaundice is a yellowish discoloration of the white part of the eyes and skin in a newborn baby due to high bilirubin levels. Other symptoms may include excess sleepiness or poor feeding. Complications may include seizures, cerebral palsy, or kernicterus. In most of cases there is no specific underlying disorder (physiologic). In other cases it results from red blood cell breakdown, liver disease, infection, hypothyroidism, or metabolic disorders (pathologic). A bilirubin level more than 34 μmol/L (2 mg/dL) may be visible. Concerns, in otherwise healthy babies, occur when levels are greater than 308 μmol/L (18 mg/dL), jaundice is noticed in the first day of life, there is a rapid rise in levels, jaundice lasts more than two weeks, or the baby appears unwell. In those with concerning findings further investigations to determine the underlying cause are recommended. The need for treatment depends on bilirubin levels, the age of the child, and the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Red Blood Cell
Red blood cells (RBCs), also referred to as red cells, red blood corpuscles (in humans or other animals not having nucleus in red blood cells), haematids, erythroid cells or erythrocytes (from Greek ''erythros'' for "red" and ''kytos'' for "hollow vessel", with ''-cyte'' translated as "cell" in modern usage), are the most common type of blood cell and the vertebrate's principal means of delivering oxygen (O2) to the body tissues—via blood flow through the circulatory system. RBCs take up oxygen in the lungs, or in fish the gills, and release it into tissues while squeezing through the body's capillaries. The cytoplasm of a red blood cell is rich in hemoglobin, an iron-containing biomolecule that can bind oxygen and is responsible for the red color of the cells and the blood. Each human red blood cell contains approximately 270 million hemoglobin molecules. The cell membrane is composed of proteins and lipids, and this structure provides properties essential for physiolo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skewed X-inactivation
Skewed X-chromosome inactivation (skewed X-inactivation) occurs when the X-inactivation of one X chromosome is favored over the other, leading to an uneven number of cells with each chromosome inactivated. It is usually defined as one allele being found on the active X chromosome in over 75% of cells, and extreme skewing is when over 90% of cells have inactivated the same X chromosome. It can be caused by primary nonrandom inactivation, either by chance due to a small cell pool or directed by genes, or by secondary nonrandom inactivation, which occurs by selection. X-chromosome inactivation occurs in females to provide dosage compensation between the sexes. If females kept both X chromosomes active, they would have twice the number of active X genes than males, who only have one copy of the X chromosome. At approximately the time of embryonic implantation, one of the two X chromosomes in each cell of the female embryo is randomly selected for inactivation. Cells then undergo tran ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lyonization
X-inactivation (also called Lyonization, after English geneticist Mary Lyon) is a process by which one of the copies of the X chromosome is inactivated in therian female mammals. The inactive X chromosome is silenced by being packaged into a transcriptionally inactive structure called heterochromatin. As nearly all female mammals have two X chromosomes, X-inactivation prevents them from having twice as many X chromosome gene products as males, who only possess a single copy of the X chromosome (see dosage compensation). The choice of which X chromosome will be inactivated in a particular embryonic cell is random in placental mammals such as humans, but once an X chromosome is inactivated it will remain inactive throughout the lifetime of the cell and its descendants in the organism (its cell line). The result is that the choice of inactivated X chromosome in all the cells of the organism is a random distribution, often with about half the cells having the paternal X chromoso ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked
Sex linked describes the sex-specific patterns of inheritance and presentation when a gene mutation (allele) is present on a sex chromosome (allosome) rather than a non-sex chromosome (autosome). In humans, these are termed X-linked recessive, X-linked dominant and Y-linked. The inheritance and presentation of all three differ depending on the sex of both the parent and the child. This makes them characteristically different from autosomal dominance and recessiveness. There are many more X-linked conditions than Y-linked conditions, since humans have several times as many genes on the X chromosome than the Y chromosome. Only females are able to be carriers for X-linked conditions; males will always be affected by any X-linked condition, since they have no second X chromosome with a healthy copy of the gene. As such, X-linked recessive conditions affect males much more commonly than females. In X-linked recessive inheritance, a son born to a carrier mother and an unaffected f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Asymptomatic
In medicine, any disease is classified asymptomatic if a patient tests as carrier for a disease or infection but experiences no symptoms. Whenever a medical condition fails to show noticeable symptoms after a diagnosis it might be considered asymptomatic. Infections of this kind are usually called subclinical infections. Diseases such as mental illnesses or psychosomatic conditions are considered subclinical if they present some individual symptoms but not all those normally required for a clinical diagnosis. The term clinically silent is also found. Producing only a few, mild symptoms, disease is paucisymptomatic. Symptoms appearing later, after an asymptomatic incubation period, mean a pre-symptomatic period has existed. Importance Knowing that a condition is asymptomatic is important because: * It may develop symptoms later and only then require treatment. * It may resolve itself or become benign. * It may be contagious, and the contribution of asymptomatic and pre-symptomat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Middle East
The Middle East ( ar, الشرق الأوسط, ISO 233: ) is a geopolitical region commonly encompassing Arabia (including the Arabian Peninsula and Bahrain), Asia Minor (Asian part of Turkey except Hatay Province), East Thrace (European part of Turkey), Egypt, Iran, the Levant (including Ash-Shām and Cyprus), Mesopotamia (modern-day Iraq), and the Socotra Archipelago (a part of Yemen). The term came into widespread usage as a replacement of the term Near East (as opposed to the Far East) beginning in the early 20th century. The term "Middle East" has led to some confusion over its changing definitions, and has been viewed by some to be discriminatory or too Eurocentric. The region includes the vast majority of the territories included in the closely associated definition of Western Asia (including Iran), but without the South Caucasus, and additionally includes all of Egypt (not just the Sinai Region) and all of Turkey (not just the part barring East Thrace). Most Mi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mediterranean
The Mediterranean Sea is a sea connected to the Atlantic Ocean, surrounded by the Mediterranean Basin and almost completely enclosed by land: on the north by Western and Southern Europe and Anatolia, on the south by North Africa, and on the east by the Levant. The Sea has played a central role in the history of Western civilization. Geological evidence indicates that around 5.9 million years ago, the Mediterranean was cut off from the Atlantic and was partly or completely desiccated over a period of some 600,000 years during the Messinian salinity crisis before being refilled by the Zanclean flood about 5.3 million years ago. The Mediterranean Sea covers an area of about , representing 0.7% of the global ocean surface, but its connection to the Atlantic via the Strait of Gibraltar—the narrow strait that connects the Atlantic Ocean to the Mediterranean Sea and separates the Iberian Peninsula in Europe from Morocco in Africa—is only wide. The Mediterranean Sea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Primaquine
Primaquine is a medication used to treat and prevent malaria and to treat ''Pneumocystis'' pneumonia. Specifically it is used for malaria due to ''Plasmodium vivax'' and '' Plasmodium ovale'' along with other medications and for prevention if other options cannot be used. It is an alternative treatment for ''Pneumocystis'' pneumonia together with clindamycin. It is taken by mouth. Common side effects include nausea, vomiting, and stomach cramps. Primaquine should not be given to people with glucose-6-phosphate dehydrogenase (G6PD) deficiency due to the risk of red blood cell breakdown. It is often recommended that primaquine not be used during pregnancy. It may be used while breastfeeding if the baby is known not to have G6PD deficiency. The mechanisms of action is not entirely clear but is believed to involve effects on the malaria parasites' DNA. Primaquine was first made in 1946. It is on the World Health Organization's List of Essential Medicines. It is available as a ge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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