...Dwarfism Dwarfism is a medical condition that affects roughly one in every ten thousand children born in America. The Little People of America defines dwarfism as male or female adult to attain a height of four feet ten inches or shorter. The most common type of dwarfism is Achondroplasia. Dwarfs, or little people, still live fairly normal lives. Most dwarfism-related conditions are genetic disorder, but the causes of some are unknown. Most occurrences result from a random genetic mutation in the mother’s egg or the father’s sperm rather than from either parent’s complete genetic makeup. Achondroplasia is the most common type of dwarfism. Infants born with achondroplasia typically have an arched skull to accommodate an enlarged brain. This results in a broad forehead, low nasal bridge, arms and legs are very short, and the trunk of the body appears long in comparison. Achondroplasia does not affect cognitive and mental abilities. Doctors are able to diagnose most cases of achondroplasia even before birth. The ultrasound can show if a baby’s legs and arms are shorter than average and if the baby’s head is larger. Another type of dwarfism is Spondyloepiphyseal dysplasia. Spondyloepiphyseal dysplasia is an inherited disorder of bone growth that results in dwarfism, skeletal abnormalities, and problems with vision and hearing. People with spondyloepiphyseal dysplasia have short stature from birth, with a very short neck and trunk and shortened limbs. They also will potentially...
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...Dwarfism "Dwarfism is short stature that results from a genetic or medical condition. Dwarfism is generally defined as an adult height of four feet ten inches or less. The average adult height among people with dwarfism is four feet." Dwarfism is generally divided into two broad categories: Disproportionate Dwarfism (DD), some body parts are small and other larger, and Proportionate Dwarfism (PD), all parts of the body are smaller than an average person's but are proportionate. Most people with dwarfism have DD which means they have an average sized trunk and very short limbs, but some people have a very short trunk and shortened but larger limbs. The head may also be overly large compared to the body. A person born with PD may not be diagnosed until early childhood when the body starts to show below the third percentile on pediatric growth charts. PD causes the head, trunk, and limbs to grow slowly and not completely develop into an average size adult. "Most dwarfism related conditions are genetic disorders but the causes of some disorders are unknown. Most occurrences of dwarfism result from a random genetic mutation in the father's sperm or the mother's egg rather than being in either parent's genetic makeup." When a person with DD has an average size trunk shorter upper arms and legs, short arms and legs with noticeably shorter upper arms and legs, limited mobility at the elbows, extra-large head with large forehead and flattened nose bridge, bowed legs...
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...Notes Achondroplasia is a bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult. People with achondroplasia are short in stature with a normal sized torso and short limbs. It is the most common type of disproportionate dwarfism. Achondroplasia is a disorder of bone growth. It is the most common form of disproportionate short stature. It occurs in one in every 15,000 to one in 40,000 live births. Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene. The FGFR3 gene makes a protein called fibroblast growth factor receptor 3 that is involved in converting cartilage to bone. FGFR3 is the only gene known to be associated with achondroplasia. All people who have only a single copy of the normal FGFR3 gene and a single copy of the FGFR3 gene mutation have achondroplasia. Most people who have achondroplasia have average-size parents. In this situation, the FGFR3 gene mutation occurs in one parent's egg or sperm cell before conception. Other people with achondroplasia inherit the condition from a parent w Is achondroplasia inherited? Most cases of achondroplasia are not inherited. When achondroplasia is inherited, it is inherited in an autosomal dominant manner. Over 80 percent of individuals who have achondroplasia have parents with normal stature and are born with achondroplasia as a result of a new (de novo) gene alteration (mutation). These parents have a small chance of having...
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...Adam Williams 04/10/2013 Achondroplasia Achondroplasia is a form of short-limbed dwarfism. It occurs in 1 in 15,000 to 40,000 new borns. It is inherited in an autosomal dominant pattern. This means one copy of the altered gene in each cell is sufficient to cause the disorder. Mutations in the FGFR3 gene cause achondroplasia. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. There are two specific mutations in the FGFR3 gene that are responsible for almost every case of achondroplasia. These mutations cause protein to be overly active, which interferes with skeletal development and leads to disturbances in bone growth for people with this disorder. The word achondroplasia literally means “without cartilage formation.” Cartilage makes up most of the skeleton during early development, and for people with achondroplasia, the problem is converting the cartilage to bone especially the longer bones of the arms and legs. All people with achondroplasia have short stature. The average height of an adult male with achondroplasia is 4 feet, 4 inches. And the average height for adult females is 4 feet, 1 inch. The characteristic features of people with achondroplasia include an average sized mid section, short arms and legs, limited range of motion at the elbows, and an enlarged head. Their fingers are usually short as well. They usually have a normal intelligence level, however there...
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...There are many differences between an average height person and a little person. Physical health, socializing and family all play key roles in exhibiting variances between an average height person and a little person. People are viewed in many ways in this society, but it is all about how each person perceives one another. Naturally as human beings “one” tends to judge others loosely, based on multiple differences. One common misconception about both groups of people is medical issues. For example, when an average person becomes pregnant they have the choice of giving birth naturally or having a cesarean performed. On the other hand a little person may only have a cesarean, because of their body structure. This is one of many examples. One of the most important factors of little person’s life is, having to be concerned about their health, every day. For a little person the weight can be a major factor. Weight is harder to lose than an average person, as there is no standard weight chart for a little person to follow. The average person can rely on a standard weight chart provided by the FDA (Food & Drug Association). One thing everyone uses as a tool to lose weight is to exercise. An average person is able to go to the gym, and use any machine of choice; as for a little person the choices are limited. For instance treadmills are difficult because they cannot reach the controls like an average person can. Another example of why a little person has to be concerned...
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...Seckel syndrome is a rare type of dwarfism that is caused by a congenital defect. Seckel syndrome is inherited in an autosomal recessive pattern and has been linked to genetic mutations on chromosomes 3, 18, and 14. How often Seckel syndrome occurs is not exactly known, but more than 100 cases have been reported in the medical literature. Many children diagnosed with Seckel syndrome are born to parents who are consanguineous, or closely related. This often causes prominent physical malformations, including a very short stature and a bird-like appearance. Serious mental retardation and blood disorders are also present in the majority of Seckel syndrome patients. Helmut Paul George Seckel was a prominent German physician who immigrated to the United States during World War II. In 1960, Seckel was the first physician to describe this disorder. It is also sometimes referred to as microcephalic primordial dwarfism, bird-headed dwarfism, and Virchow-Seckel dwarfism. A variant to this type of dwarfism is also known as Harper's syndrome, which was named after Dr. Rita G. Harper. Seckel syndrome is very rare, and only a handful of infants are diagnosed with it. It is believed to be a genetic disorder. Individuals born with this disorder typically have mutated chromosomes.These mutations can cause several physical mutations. An infant with Seckel syndrome will usually be born with a very low birth weight, due to improper growth prior to birth. Most of these infants will usually only...
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... Achondroplasia by Elif Kilicarslan 1.Symptoms Symptoms of achondroplasia may include short stature, with a long torso and shortened limbs. A person with achondroplasia may have large hands with short and stubby fingers. The average adult height of a person with achondroplasia will be between 42 and 56 inches. Many people with the disorder may have a curve of the lower back which can cause a different walking pattern. People may have large heads with a large forehead or undeveloped faces. Some people may have issues with pain in the back or dental issues. Despite these symptoms, people with achondroplasia can still live fulfilling lives. 2. Genetic Cause Achondroplasia is caused by a gene carried on the fourth chromosome. Achondroplasia is believed to be caused by a mutation in the FGFR3 gene (fibroblast growth factor receptor 3). This gene makes instructions for making proteins that can develop and maintain parents have achondroplasia, there is a 25 percent chance they will have a child without achondroplasia. Their chance of having a child with achondroplasia is 50 percent. The chance of the child having two sets of the altered gene, and dying, is 25 percent. 4.Testing Achondroplasia is diagnosed by x-ray findings and characteristic clinical findings. Gene sequencing can be used to detect rare mutations. Prenatal genetic testing can occur if the parent is affected with achondroplasia or if symptoms are seen in an ultrasound. If testing is on a baby in the womb, chorionic...
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...In the article ‘Dwarfism: When Is a Fetus Normal’ by Veatch, Haddad, and English, it talks about a couple, Charles and Amanda Harrelson, who were born with achondroplasia dwarfism. This is a disorder in which it affects the cartilage to not correctly develop to bone. The average height for people with this disorder is around four feet, with shorter limbs as well. Achondroplasia dwarfism also has some common side effects such as: back pain, apnea, bowed legs, and obesity. The Harrelson couple is currently pregnant and would like to test their developing baby for the disorder. They are considering getting an abortion if the child carries two of the genes, because of the high risk of severe effects. They are also considering abortion if the child shows no gene mutation because they don’t want the child to be different from them. One ethical argument that the Harrelsons may offer to support their desire to have a child with achondroplasia dwarfism like themselves could be that it brings them happiness. With this being said they are using the principle of utility. The principle of utility states that whether an action is right or wrong it is based on if it leads to...
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...TASK # 2 OTHERING Othering occurs when one group of people exclude others who they would consider different in some way. By making others feel excluded we boost our own egos making us feel as if we are the better group. Othering is a way in which we believe that our beliefs, our race and our life are better than another groups. We base this decision on one fact alone and that is the fact that they are different in some way from what we believe to be normal. In the poem The White House by Claude McKay it clearly tells us of the hatred he feels from the world around him because of the color of his skin. The line “Oh, I must keep my heart inviolate against the potent poison of your hate.” (McKay, n.d., line 13 and 14) This line tells us that he feels all this hate is coming from the people around him and that he views the world as being against him. It is very clear from this poem that McKay believes very strongly against the exclusion of Africa Americans and their rights. After reading the poem you get a sense of how very strongly he believed in equal rights for all. The line “But I posses the courage and the grace to bear my anger proudly and unbent.” (McKay, n.d. , line 3 and 4) I feel that this demonstrates his strength to preserver despite what he is going through and how angry he may be. In the line “Your door is shut against my tightened face.” (McKay, n.d., Line 1) you can feel his sense of not feeling as if he belongs. He feels as if he is an outsider looking in and...
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...Throughout the class, we learned about how researchers go about constructing experiments to explore if a particular brain structure or neurochemical system contributes to a behavior or physiologic measure. Choose an area of research we explored during the year, and discuss the method used to determine how particular brain structure(s) or neurochemical(s) contribute to behavior or physiology. 10pts. Our textbook, Biological Psychology, considers the physiological effects of attention by presenting an innovative study. Researchers presented a stimulus to participants that consisted of a face transposed over the picture of a house. First the participants were asked to focus only on the face in the picture and fMRI images showed activation of the fusiform area in the brain which is responsible for face processing. They were then asked to focus only on the house portion of the stimulus image and the fMRI images showed activation of the parrahippocampal place area which is responsible for processing location. This enforces the notion that attention causes the selective enhancement of activity in brain regions that are specialized to process particular types of stimuli 1) Physiological effects of attention: Study showing picture of face over house 2) Focus on face or focus on house 3) fMRIs showed activation of fusiform face area when looking at face 4) fMRIs showed activation of parrahippocamal place area when looking at house 5) focusing of attention causes the selective enhancement...
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...hormones are produced by the pituitary gland. Excess secretion is stimulated by anorexia nervosa, stress, hypoglycemia, and exercise. 2) The relationship between Growth Hormones and insulin is that GH stimulates the growth of the long bones through the action of somatomedins, which are insulin growth like growth factor made in the liver. There are no complications involving GH and insulin so far. General Facts l About 3 people in 1 million have pituitary gigantism l 100 cases to date in United States l 2 – 3 times higher mortality rate in comparison to general population l No racial predilection l Males and females affected equally l Not a genetic disorder 3) From the research I did it’s dwarfism that’s more difficult to treat than, for reason being in dwarfism exact diagnosis, was more difficult because of the heterogeneity. Gigantism is abnormally large growth during childhood caused by excess growth hormone secreted by the anterior pituitary gland. Gigantism caused by excess circulating levels of GH Commonly caused by pituitary tumors that secrete a mutant protein that eliminates need for GHRH Tumors block gonadotropin release – responsible for sexual development – may cause...
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...BIO483 Exam #4 Review Comprehensive and/or early Weeks Know all conditions that cause splenomegaly All associated diseases with EBV Week 1 Mechanisms of Cellular Adaptation Types of necrosis and pathology where most likely found. Apply the definitions of Atrophy, hypertrophy, hyperplasia, hypoplasia, dysplasia, and metaplasia. Week 2 Pain Throughout Organ Systems General anatomy of kidneys, appendix, gallbladder, pancreas, spleen, male and female reproductive organs. Costochondritis vs Angina Pectoris vs Myocardial Infarctions. Rheumatoid arthritis Gout lab findings Week 3 Fluid Balance and Edema Electrolyte imbalances of sodium, potassium, calcium, and magnesium. Intra and Extra cellular concentrations of sodium and potassium as related to osmotic balance. Know the physical signs/symptoms of electrolyte imbalances including hyper and hypo natremia, kalemia, and calcemia. SIADH lab and imaging findings Diabetes insipidus lab and imaging findings Week 4 Topic 4 Acidosis and Alkalosis Know your acid-bases! Week 5 Topic 5 Cardiovascular Causes of Fatigue Cor-pulmonale, cardiomyopathies Week 6 Topic 6 Thyroid, Adrenal, Liver Fatigue Hashimoto’s thyroiditis vs. DeQuervain vs. nodular goiter vs. secondary hypothyroidism Cirrhosis, Addison disease lab tests and hormone responsible. Is it high or low? Week 7 Topic 7 Bleeding as Indicator of Disease Pathophysiology of Disseminated Intravascular Coagulation Pathophysiology of Hemophilia Ulcers ...
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...The shape of the pelvis identifies that the specimen was a male. His estimated age at death depends upon whether the maturity stage of his teeth or skeleton is used, and whether that maturity is compared to that of modern humans or chimpanzees. A key factor here is that while modern humans have a marked adolescent growth spurt, chimpanzees do not. While initial research assumed a modern human type of growth, more recent evidence from other fossils suggests this was less present in early Homo. This affects the estimation of both his age and his likely stature as a fully grown adult.[1] * Anthropologists Alan Walker and Richard Leakey in 1993 estimated the boy to have been about 11–12 years old based on known rates of bone maturity.[4][nb 2] * Christopher Dean (M. C. Dean) of University College London, in a Nova special, stated that Turkana Boy was 8 years old at death.[5][6] But Alan Walker and Richard Leakey said that dental dating often gives a younger age than a person's actual age.[7][nb 3] * Ronda Graves and colleagues in the most recent review of the problems involved concluded that he would "have grown an additional five to 14 cm before reaching adulthood" and that "if, at death, he was eight to ten years of age, [he would have been] 154 centimetres (61 in) tall, and growing faster than a modern human but slower than a chimpanzee. According to this scenario, KNM-WT 15000 would have attained an adult stature ranging between 159 centimetres (63 in) and 168 centimetres...
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...Genetics H e a l t h f o r l i f e 1. What are Genes? What roles do they play? Genes give the directions for building protein that make our bodies function. They give instructions on how to make or operate all parts of out body. 2. Describe what dominant and regressive genes are. Give some examples. Dominant Gene- A gene which, when present on a chromos ome, passes on a certain physical characteristic, even when the gene is present in only one copy. Recessive Gene- A gene which must be present on both chromosomes in a pair to show outward signs of a certain characteristic. Examples Dominant Gene- Green or Hazel Eyes, large eyes, Dwarfism Recessive Gene-Blue or Grey Eyes, small Eyes, Normal Growth 3. What is heredity? How important is it in influencing who we are? Heredity helps define us from our parents and who we are. Heredity is the passing on of physical or mental characteristics genetically from one generation to another. 4. Steve Rogers and Eric Grothe were outstanding Rugby League players in 1970 and 80’s. each has a son who has gone on to league at the ‘state of origin’ level. Should we be surprised by this? Give your reasons. Their sons have the ‘state of origin’ level because of their father’s genes and have been passed on to them. They have pass on their genes and they were very sporty and great at Rugby league, so their sons will also be great at a young age from the genes pass down. 5. What are the different options of the eye colour...
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...The current modules gave us information on the outer frame of our body the skeletal system, the muscle system that is attached to our bones that provides support and movement, endocrine system and reproductive systems of the male and female body. All body organs and systems work together and support each other. We found there were many factors of the body that we were unaware of such as we have spongy bone and all muscles do not move, there are two forms of arthritis; osteoarthritis and rheumatoid and hormones are designated for certain cells called target cells. For the Skeletal system, we learned there are 206 bones in our body that makes up our frame structure. The outer layer of our bones consist of dense material known as compact bones and inside is less bone known as spongy bones. It gives our body its shape and posture. We learned that our skeletal system also protects organs in our body such as our brain, lungs and heart. Our joints are the structures that connect the bones of the skeleton. Our muscle system makes it possible for movement to happen. When they contract, movements are made. They also produce heat for our body that protects us from cold weather. We found that some muscles do not move. There is also a downside to many system to our bodies. We found that arthritis is a form of joint disease that results from the wear and tear on our bones and joints. The cartilage of the bones crack and flake off causing our bones to grind on each other...
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