...Suemin Chi November 30th, 2013 The Genetics Disease: Galactosemia There are many genetic diseases out there today, but one that caught my attention was Galactosemia. Galactosemia is a genetic disorder that affects how the body processes the simple sugar, galactose. There are three types of Galactosemia; Classic Galactosemia, Galactosemia Type II, and Galactosemia Type III. All three types are inherited in an autosomal recessive pattern but the most common is the classic Galactosemia. According to the Genetics Home Reference, it states, “Classic Galactosemia occurs in 1 in 30,000 to 60,000 newborns, Galactosemia type II and type III are less common; type II probably affects fewer than 1 in 100,000 newborns and type III appears to be very rare.” This disorder is rare but if affected with it, can show symptoms that range from mild to very severe if not controlled. Those who are affected with classic galactosemia lack the enzyme Galactose 1-phosphate; (GALT), galactosemia type II has a mutation in the GALKI gene and in type III, the GALE gene. Galactose is one of the products formed from lactose when absorbed into the body. In an unaffected person, GALT will bind to galactose, which later converts to glucose and then used for energy. In an affected person, there is no GALT, so the build up of galactose will cause toxic affects on the organs. This is a very dangerous disorder one can have, but it is especially dangerous to newborns because they will not be able to drink any...
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...Galactosemia A genetic disorder is a sickness when your genes or chromosomes have abnormalities. There are many different types of genetic disorders from Breast Cancer to Turner Syndrome. The genetic disorder I'm doing is Galactosemia, Galactosemia is an inherited metabolic disorder in which galactose builds up in the blood because of deficiency of an enzyme catalyzing its conversion to glucose. Galactosemia is caused by the lack of a liver enzyme that is needed to metabolize Galactose. It's transmitted by the presence of 2 recessive mutant genes on a autosome. It's also a very rare disease. Galactosemia usually occurs in infants. Some of the symptoms are, vomiting, yellowish color in the skin, when the baby refuses to drink milk/ formula's, poor weight gain, laziness, irribality, and convulsions. Galactosemia is very rare, but it is very serious when a child gets it. If it isn't treated it can result in mental retardation, permanent growth issues, coil infections, severe e, or more. Galactosemia is inherited when both parents of a child, who both carry a autosomal recessive condition. Also they both have to carry a mutated gene, they usually don't show any signs or symptoms of Galactosemia. Galactosemia is very rare, it has 1 in every 300,000 people have it in the USA. Galactosemia was discovered in 1908 by Von Ruess. It was reported when a infant was breast-fed and the infant failed to thrive. The only way they could treat it was to remove milk products from the diet. Gatactosemia...
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...Galactosemia is a genetic disease in which the body is unable to metabolize a food sugar called galactose. This genetically inherited disorder follows an autosomal recessive mode of inheritance. Due to the mutation in a certain gene, there is a deficiency of galactose-1- phosphate uridylyltransferase enzyme (GALT), which is essential for the conversion of galactose to glucose. This deficiency will result in the accumulation of galactose in blood, a condition called classic Galactosemia (a common form of Galactosemia). A less severe form of Galactosemia is due to the deficiency of galactokinase deficiency. The disease can be classified into three different forms. Classic Galactosemia is the most common and severe amongst the three. Galctose-1-phospate,...
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...large population to new area and now the albino allele frequency higher in new population Heterozygous Advantage – Sickle Cell TRAIT may have advantage, RBC does not live as long so is advantageous be able to apply concept Know how large and small populations and how genetic drift applies to each Lecture 22 Genetic screening – what is looked for? What makes good screening test Something prevelant, treatable, something with access to care, test is accurate and reliable PKU ---Classical vs Malignant Galactosemia – GALT enzyme Material PKU – mother with PKU, at child bearing age eating HIGH PROTEIN FOODS can be damaging to fetus Associated diseases with each population group – Tay Sachs (Jewish), Thalessemia (Mediterranean, Asian), Sickle Cell (African) If we did screening test for certain populations, which tests would be screening for? Lecture 23 Phamacogenetics Do not need to know specific medication names Know the enzyme that causes Lecture 24 Galactosemia Glycogen Storage Disease (1 and 2) PKU KNOW ENZYME and TREATMENTS FOR EACH KNOW the ex vivo and In vivo gene therapy methods; in vivo, take the direct gene an place into person; ex vivo, extract, culture cell, introduce new genetic material, select for gene, place back in the individual. Lecture 25 Syncytiotrophoblasts – know what that group differentiates into Picture similar to lecture Identify inner cell mass, outer cell mass, zona pellucida, What area blastocyst FIRST implants on uterus Blastocyst...
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...H2 H2 surname first name m.i. surname first name m.i. Name: Yr & Sec: SCORE SCORE Glycolysis For this activity, refer to the figure on next page to complete the table below. Use BLUE INK PEN. Due on March 08 (TTh Classes) and March 09 (MWF and WF classes) Step | Reactant | Product | Enzyme | Type of Reaction | 1 | | | | | 2 | | | | | 3 | | | | | 4 | | | | | 5 | | | | | 6 | | | | | 7 | | | | | 8 | | | | | 9 | | | | | 10 | | | | | Identification: 1. 2. Two steps in glycolysis that use ATP 3. Steps in glycolysis where molecule is split. 4. Two steps in glycolysis that produce ATP. 5. # of NADH produced: _____ 6. # of carbons found in the glucose: _____ 7. # of carbons found in each pyruvate molecule: _____ 8. # of ADP produced: _____ 9. # ATP produced: _____ 10. Net total of ATP produced: _____ 11. Which product of glycolysis is used in liver for synthesis of triglycerides? Glycolysis - occurs in the cytoplasm that converts glucose into two pyruvates * can be aerobic or anaerobic (erythrocytes and exercising skeletal muscles) * Step 1 Step 1 Step 10 Step 10 Step 9 Step 9 Step 8 Step 8 Step 7 Step 7 Step 6 Step 6 Step 5 Step 5 Step 4 Step 4 Step 3 Step 3 Step 2 Step 2 Citric Acid Cycle/Tricarboxylic acid Cycle (TCA)/ Krebs Cycle *...
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...your brain, it’s still an illness, and there should be no distinction.” It’s hard to live without desserts, but have we ever thought about how many sugar is put into the desserts we eat every day. It’s hard to give up on sweets especially if you have a bakery on your street, community, or even a friend of yours that constantly makes sweets. Sugar affects our body and brain in many ways but people just don’t see it even if told by doctors they deny or ignore. That’s why Dr. Thomas Fuller once said, “Health is not valued till sickness comes.” We people don’t take words from doctors to heart until we get a disease, then we regret not listening to our doctors. Too much sugar can lead to sicknesses in the body and brain, (like Hypoglycemia, Galactosemia, Hyperglycemia, or even Diabetes Mellitus Type 2). Hypoglycemia is a strange low level of blood sugar because the brain counts on blood sugar for energy and hypoglycemia can prevent the brain’s ability to work properly. Also, it...
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...Benefits of Breast Feeding Past the Age of One Name: Institution: Introduction Human milk serves as an ideal food for infants because of its nutritional composition. It also contains factors that boost the immunity of the infant to infections and it is less likely to cause allergic reactions (Shelov & American Academy of Pediatrics, 1991). Approximately, nursing mothers breastfeed 44 percent of infants at birth in the U.S. By 6 months, only 11 percent of infants are receiving breast milk and only 2 percent infants get breast milk by age of one. These figures show a decline in the numbers of breastfeeding mothers. This can be attributed to lack of proper knowledge to help them appreciate breastfeeding past the age of three. There are benefits of breastfeeding an infant, both to the mother and infant and indirectly to the economy of a country or state. Human milk In the first year of life, the mother's milk should keep on being the key source of food and should at least give between one third and one half of the average total energy intake. Nursing mothers should consider this especially towards the end of 24 months of life (Michaelsen & World Health Organization, 2000). Major ingredients of human milk are sugar (lactose), easily digestible protein (casein and whey), and fat (digestible fatty acids), and breast milk has properly balanced constituents to suit the nutritional requirements of the baby. In addition, there are numerous vitamins, enzymes...
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...CARBOHYDRATE RELATED DISEASES Jay Cee Roa Valencia PhBio26 TTh 10:30 – 12:00 Carbohydrates are being shunned by health conscious, rather weight conscious, people. They have to understand that carbohydrate deficiency diseases and their manifestations are certain to appear if there is too much exclusion of carbohydrates in the diet. All sources of food do contain carbohydrates, even animal products. However the carbohydrate level is very low in foods of animal origin with the exception of milk which contains good amount of lactose sugar. THE CAUSES OF CARBOHYDRATE DEFICIENCY DISEASES Normally, when balanced diet is consumed, carbohydrate short fall does not arise. If individuals undertake crash-dieting to achieve rapid weight loss by nutritional deprivations of carbohydrates, no doubt they may lose weight drastically in a short span of time. However, they may not be able to resist the cravings for the carbohydrates and soon by reverting to old food habits end up gaining weight. In case they are able to continue dieting, they may have to face many carbohydrate deficiency disease manifestations. People lacking food of plant origin, and people suffering chronic illness, poverty or starvation also experience deficiency diseases. HOW DOES CARBOHYDRATE DEFICIENCY OCCUR? The carbohydrates consumed by us are broken down by digestive enzymes into monosaccharides (glucose, fructose etc) and absorbed in the intestine. Once in the blood, the glucose is used for energy production...
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...BY 101 Study Guide Chapter 9 – Cell Division Cell division is an elegant process that enables organisms to grow and reproduce. Through a sequence of steps, the replicated genetic material (chromosomes) in a parent cell is equally distributed to two daughter cells. While there are some subtle differences, mitosis is remarkably similar across organisms. Before a dividing cell enters mitosis, it undergoes a period of growth called interphase. Interphase is the "holding" stage or the stage between two successive cell divisions. In this stage, the cell replicates its genetic material and organelles in preparation for division. The cell cycle, or cell-division cycle, is the series of events that take place in a cell leading to its division and duplication (replication). The cell cycle consists of four distinct phases: G1 phase, S phase (synthesis), G2 phase (collectively known as interphase) and M phase (mitosis). M phase is itself composed of two tightly coupled processes: mitosis, in which the cell's chromosomes are divided between the two daughter cells, and cytokinesis, in which the cell's cytoplasm divides forming distinct cells. Activation of each phase is dependent on the proper progression and completion of the previous one. Cells that have temporarily or reversibly stopped dividing are said to have entered a state of quiescence called G0 phase. Mitosis is composed of several stages: * Prophase * Metaphase * Anaphase * Telophase Prophase ...
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...Running head: EDUCATING SPECIAL NEEDS STUDENTS Educating Special Needs Students March 12, 2012 Educating Special Needs Students Most people have seen or heard about child or adults with disabilities, some may even have come in contact or have a person like this in their family. No matter what the case may be disabilities have been around for generations and are just now getting the recognition and help it really deserves. So, what are some disabilities and how do some child have them and some do not. So let’s take a look at a few definitions of some disabilities and their causes and then most importantly what the education system is doing to help them cope and learn to live in today’s society with skills and knowledge that they have strengths in doing. Autism- “a variable developmental disorder that appears by age three and is characterized by impairment of the ability to form normal social relationships, by impairment of the ability to communicate with others, and by stereotyped behavior patterns as is defined by Webster dictionary. The word autism was first used in 1943:”. (Merriam-Webster, Incorporated , 2012) From the medical association it is defined as: Autism is known as a complex developmental disability. “Experts believe that Autism presents itself during the first three years of a person's life. The condition is the result of a neurological disorder that has an effect on normal brain function, affecting development of the person's communication...
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...Notes Enzymes: What must occur for a reaction to proceed? Collision Theory: 1. Reactants must collide 2. Reactants must have enough energy 3. Reactants must hit with proper orientation Here is morbid example of collision theory. How do a train and school bus react to give a train with engine damage and a school bus in two pieces? [pic] If you look back to the three conditions required for a reaction to occur, we can relate them to his terrible accident. In the collision theory, condition number one requires that the train must collide with the bus. Condition number two requires that the train and bus collide with enough energy for the reaction to occur, meaning the train must hit bus with enough energy, not merely tap the bus. The third condition requires that the train and bus hit with the proper orientation. If the bus hit the side of the train, it will not slice the train in have. The train must t-bone the bus. Hopefully this visual will help you to remember the condition required for a reaction to occur. Energy Diagrams: Energy diagrams are also called reaction progress diagrams as they depict the energy of the chemicals involved in the reaction through out the course of the reaction. The following is an example of an exothermic reaction: [pic] A catalyst will lower the activation energy of a reaction. The result is shown in the following reaction progress diagram for an exothermic reaction. [pic] The green line in the transition state is...
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...CARBOHYDRATE METABOLISM Carbohydrates are found as monosaccharides, disaccharides, and polysaccharides or complex carbohydrates. They function in energy storage (starch&glycogen), signaling (glycoproteins and glycolipids, e.g. blood group determinants), fuel the nervous system and muscle (and virtually all cells, although there are distinct cell type specific differences in choice of primary fuel molecule), are parts of nucleic acids (genes, mRNA, tRNA, ribosomes), and as cell surface markers and signaling in glycolipids and glycoproteins, are part of connective tissue (heteropolymers; glycosaminoglycans), cell wall components (cellulose, hemi-cellulose) made of polymers that are enzymatically inert for most mammals to digest (except ruminants that harbor a special digestive tract bacterium with the appropriate cellulase enzyme). The alpha glycosidic bonds found in glycogen and starch is metabolically available to humans. The major source of dietary carbohydrate for humans is starch from consumed plant material. This is supplemented with a small amount of glycogen from animal tissue, disaccharides such as source from products containing refined sugar and lactose in milk. Digestion in the gut converts all carbohydrate to monosaccharides which are transported to the liver and converted to glucose. The liver has central role in the storage anddistribution within the body of all fuels, including glucose. Glucose in the body undergoes one of three metabolic fates. First it...
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...As simply as absolutely anyone can put it, not enough can be said about that very first beverage a new-born mammal, human or otherwise consumes immediately following its exit from the womb: milk. And from that moment on, milk is an absolutely vital part of all balanced mammalian diets. Milk provides our body with calcium, protein, and fat, elements essential to our nutrtion. In Philippines, there are only three available resources of milk from animal: The Cow's milk, Carabao's milk and Goat's milk. Drinking Cow's Milk dates back in recorded history to as early as 8000 BC in ancient Egypt, when, believe it or not, only the very wealth could afford it. The consumption of Cow's milk began to proliferate during 5th century AD. The America followed in the 1600s. In 1863, Louis Pasteur invented pasteurization, a method of killing harmful bacteria in beverage and food products. In 1891, the first U.S. milk processing plant to install pasteurization equipment was the Sheffield Farms Dairy in Bloomfield, New Jersey. They used a German-made pasteurizer. In 1908, Chicago became the first major American city to pass a law requiring commercial milk to be pasteurized milk. A cup of today's cow's milk on average already contains 29.7 percent of the daily value for calcium and 23.2 percent of the daily value for phosphorus recommended requirements. The former is important for building bones, as well as physiological activities such as blood clotting, muscle contraction and even...
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...Cirrhosis and Related Liver Disorders The liver is the largest gland and second largest organ in the human body. It is also the only internal organ capable of regeneration following injury. Located in the abdominal cavity, this reddish brown organ is divided into lobes of different size and shape. The liver plays a critical role in metabolism, digestion, elimination, and detoxification, among other processes. This organ performs a surprisingly large number of functions that influence virtually all other body systems. This is why diseases of the liver can be so devastating. One class of chronic diseases affecting the liver is cirrhosis. (Kasper, 2008) Cirrhosis is a condition in which normal liver cells are damaged and replaced by scar tissue. As the scar tissue accumulates, blood flow through the organ is obstructed which prevents the liver from functioning normally. Cirrhosis can be difficult to notice early because the preliminary stages rarely demonstrate any signs or symptoms. As liver function deteriorates, the effects of cirrhosis become evident. Complications include swelling of the legs and abdomen, weight loss, jaundice, bleeding from the gastrointestinal tract and intense inching. (Kasper, 2008) The most common causes of cirrhosis are hepatitis C, fatty liver, and alcohol abuse. Other causes include repeated bouts of heart failure, cystic fibrosis, antitrypsin deficiency, and Wilson’s disease. Once diagnosed, treatment depends on the cause of the disease and...
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...Environmental Health Perspectives Vol. 44, pp. 1-8, 1982 The Eye and Visual Nervous System: Anatomy, Physiology and Toxicology by Connie S. McCaa* The eyes are at risk to environmental injury by direct exposure to airborne pollutants, to splash injury from chemicals and to exposure via the circulatory system to numerous drugs and bloodborne toxins. In addition, drugs or toxins can destroy vision by damaging the visual nervous system. This review describes the anatomy and physiology of the eye and visual nervous system and includes a discussion of some of the more common toxins affecting vision in man. Anatomy of the Eyeball The eye consists of a retinal-lined fibrovascular sphere which contains the aqueous humor, the lens and the vitreous body as illustrated in Figure 1. The retina is the essential component of the eye and serves the primary purpose of photoreception. All other structures of the eye are subsidiary and act to focus images on the retina, to regulate the amount of light entering the eye or to provide nutrition, protection or motion. The retina may be considered as an outlying island of the central nervous system, to which it is connected by a tract of nerve fibers, the optic nerve. As in the case of the brain and the spinal cord, the retina is within two coats of tissue which contribute protection and nourishment. On the outside of the sphere, corresponding to the dura mater, a layer composed of dense fibrous tissue serves as a protective envelope, the fibrous...
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