The main symptoms of cri du chat are first and foremost is that when they are babies they have a very distinct high pitched cry that sounds like that of a cat‚ which explains the name cat cry syndrome‚ intellectual disabilities‚ delayed development and low birth weight. The other symptoms are abnormality of the voice‚ cognitive impairment‚ low set‚ posteriorly rotated ears‚ microcephaly (head is smaller than expected)‚ muscular hypotonia (decreased muscle tone)‚ round face‚ wide nasal bridge and
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Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) Abstract Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is a rare syndrome that not only causes physical conditions but emotional. The psychological effects of woman diagnosed with MRKH have never been fully discovered. The hypothesis and or purpose of this study is to evaluate self-report measures of psychological distress in woman with MRKH syndrome compared to woman without MRKH syndrome. A group of woman with MRKH will
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Micro-deletion syndromes Di- George syndrome Aetiology Deletion of part of the long arm in chromosome 22 at location 22q11.2(1) The most common deletion includes the TBX1 gene (85% individuals)‚ see figure 1 below. Defect in neural-crest tissue (thyroid‚ thymus‚ and conotruncal septum of the heart) due deletion of region in chromosome 22 (2) Inheritance pattern is autosomal dominant (2) Hypoplasia of thymus and parathyroid glands resulting in hypocalcemia Acronym CATCH22 is used for
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Down Syndrome Down syndrome occurs when there is an extra copy of chromosome 21. People with this abnormality is described to be having a physical feature like excess skin at the nape of the neck‚ flattened nose‚ single crease in the palm of the hand‚ small ears‚ small mouth‚ upward slanting eyes‚ wide‚ short hands with short fingers‚ white spots on the colored part of the eye. The condition is often associated with some level of mental retardation or learning disabilities. These individuals are
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The Great Metabolic Race Organisms are constantly undergoing various chemical reactions and pathways that enable for them to maintain life. These pathways are part of metabolism‚ involving catabolism (break down of organic nutrients for extraction of useful) and anabolism (energy dependent conversion of small precursor molecules in complex molecules); some of which are energy coupled to provide energy efficiency. This intermediate coupling is due to the “energy currency” within the body‚ known as
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Purpose: The purpose of this lab was to see how the changes in exercise intensity affect the rate of metabolism within the body. Methods: In this lab‚ indirect calorimetry was used to measure metabolic rate by calculating caloric expenditure by the measurements of oxygen consumption. The variables measured were the fraction of oxygen expired‚ the fraction of carbon dioxide expired‚ and the total volume of air inspired. This experiment required the participation of two volunteers. First‚ the variables
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BIO 211 Lab Section 11 February 15‚ 2012 Effects of Temperature on Enzymatic Activity Abstract Temperature is a measure of kinetic energy. As this movement increases‚ collision rate and intensity‚ and therefore reaction rates‚ increase. This experiment was conducted to determine if there is a minimum temperature that increase kinetic energy and denature enzymes to slow enzymatic reactions or fail to catalyze them. The experimental results indicate an increase in temperature will increase reaction
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Unit Test #2 Review Redox Reactions oxidation: involves loss of electrons‚ often occur with loss of hydrogen‚ occur with gain of oxygen reduction: involves gain of electrons‚ often occur with loss of oxygen‚ occur with gain of hydrogen redox reactions: coupled reactions that play a key role in flow of energy‚ involve gain/loss of electrons Energy Terms anabolic: using energy to build large molecules catabolic: breaking down compounds into smaller molecules to release energy metabolism: all the
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Reye Syndrome Reye Syndrome is an extremely rare‚ non-contagious disease thought to be triggered by aspirin use. The actual origin of the disease is unknown. Reye’s Syndrome‚ occasionally called Reye-Jacobsen’s Syndrome‚ is known to follow any viral infection. Two of the most common viral infections it precedes is influenza‚ "the flu"‚ and chicken pox. A now-familiar warning on bottles of aspirin‚ most notably Tylenol‚ is not to give Tylenol to a child who is recovering from the chicken
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involved in their development. Duane syndrome is one example of these genetic diseases. People who suffer from this rare condition have the limited
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