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Exam 1 Study Guide

by: Shelby Marie

Exam 1 Study Guide HK 440

Shelby Marie
GPA 3.78
Human Diseases and Disorders

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Human Diseases and Disorders
Study Guide
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Popular in Nursing and Health Sciences

This 0 page Study Guide was uploaded by Shelby Marie on Tuesday December 8, 2015. The Study Guide belongs to HK 440 at Purdue University taught by Hyner in Spring2015. Since its upload, it has received 70 views. For similar materials see Human Diseases and Disorders in Nursing and Health Sciences at Purdue University.

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Date Created: 12/08/15
1 Describe the major causes of death in the US and contrast with the major causes at the turn of the century In the 18005 the main causes of disease were TB pneumonia and heart disease Now the main causes of disease are unintentional injuries cancers and heart disease There has been a shift from infectious disease to chronic disease 2 What are the major theories of disease How would they be used to determine the cause of a patient39s illness Immune failure or incompetence Protein crosslinking by glycosylation or oxygen free radicals calorie restriction o This can cause in ammation and a loss of elasticity in the proteins 0 Loss of function of these speci c crosslinked proteins Reactive oxygen species free radicals or lack of antioxidants superoxide dismutase o Accumulation of too many free radicals causes damage which can lead to disease 0 The free radical superoxide dismutase speci cally causes the most damage 0 Free radicals cause a domino effect causing many cells to become free radicals Telomere restriction Hay ick limit 0 Telomeres are found on the ends of chromosomes which help them from deterioration of fusion with nearby chromosomes 0 Telomeres will get slightly shorter after each new cell division until they shorten to a critical length 0 Hay ick limit is the number of times a normal human cell population will divide until cell division stops 4060 divisions in utero Aging genes epigenetic changes Describe the major components of the typical human cell Nucleus Cytoplasm Ribosomes Lysosomes Mitochondria Golgi apparatus What are the functions of organelles such as the mitochondria ysosomes Golgi apparatus ribosomes and nucleus Mitochondria breaks down sugar glucose molecules to release energy site of aerobic cellular respiration Lysosomes breaks down larger food molecules into smaller molecules digests old cell parts Golgi apparatus modify proteins made by the cells package and export proteins Ribosomes make proteins Nucleus controls cell activities contains the hereditary material of the cell Compare and contrast three means by which cells attempt to sublethally adapt to changes in homeostasis Hypertrophy increase in cell size not in cell number exercising getting fat Atrophy decrease in cell size not in cell number osteoporosis broken bone and non usage causes decrease in size Hyperplasia increase in size due to an increase in cell number cancer how we grow menstruation liver Metaplasia one cell changes into another type of cell What are some examples of stimuli that induce sublethal adaptive responses Carbon monoxide Tobacco smoke Asbestos How are oxygen free radicals protein cross linkage and immune incompetence related to the effects of the aging process What happens to cells when they die To the human organism Necrosis cell death occurs if cells can no longer adapt Apoptosis programmed cell death important and good helps prevent cancer 0 Remnants scavenged by phagocytes If the cells are left in the body they can cause disease Wooly densities are in mitochondria that means that that cell is dead cannot sublethally adapt 9 Birth outcomes may be adversely affected by single gene defects intrauterine exposure to environmental disease causing agents chromosome abnormalities and multifactorial events Can you cite examples of each of these Single gene defects 0 Dominantly Inherited O O O O O Polydactyly more than 5 ngers or toes on each handfoot Huntington39s Disease causes progressive breakdown of nerve cells in the brain Glaucoma cause optic nerve damage due to increased uid pressure in the eye Hypercholesterolemia high levels of cholesterol in the blood Achondroplasia shortlimbed dwarfism affects bone growth Marfan39s Disease disease affecting the connective tissue tall and slender stature Neuro bromatosis disturbs cell growth in your nervous system causing tumors to form on nerve tissue Recessively Inherited O O O O Cystic Fibrosis buildup of mucus speci cally in the lungs making it hard to breath Phenylketonuria disorder that increases the levels of phenylalanine in the blood to dangerous levels that can cause learning disabilities TaySachs Disease progressively destroys nerve cells in the brain and spinal cord Albinism the body cannot produceproduces very small amounts of melanin Galactosemia the body cannot process galactose properly Thalassemia blood disorder where the body makes an abnormal form of hemoglobin aka not enough hemoglobin is produced Hemochromatosis the body absorbs too much iron Sickle Cell Anemia sickle shaped red blood cells that break down XLinked Inheritance O O Hemophilia blood doesn39t clot normally because it lacks sufficient clotting factors Fragile X causes learning disabilities and cognitive impairment o Muscular Dystrophy causes progressive weakness and loss of muscle mass Spinal Ataxia progressive problems with movement 0 LeschNyans poor muscle control and moderate intellectual impairment selfmutilating behaviors Color blindness color vision de ciency o Agammaglobulinemia low levels of immunoglobulins which are part of the immune system have frequent infections 0 O Intrauterine exposure to environmental disease causing agents Chromosome abnormalities Trisomy 21 Down syndrome intellectual disability and growth delays Trisomy 13Patau syndrome severe intellectual disability and physical abnormalities many don39t live long Trisomy 18Edwards39 syndrome slow growth and severe intellectual disability don39t live long Criduchat5p deletion high pitched cry intellectual disability delayed development small head size distinctive facial features Fragile X causes learning disabilities and cognitive impairment Bloom syndrome714 translocation short stature sunsensitive skin changes etc Burkitt Lymphoma814 translocation cancer that starts in B cells of the immune system very fatal if left untreated Klinefelter syndrome boy is born with an extra X chromosome XXY gynecomastia infertility etc Turner syndrome short stature in females ovarian failure or hypofunction X Multiple X XXX hard to recognize any symptoms Double Y XYY hard to recognize any symptoms Multifactorial events 10 William Syndrome medical problems like heart disease developmental delays and learning disabilities striking verbal abilities very social love music What is the most common advice that the genetic counselor would give potential parents in each of these three groups of diseases What is the signi cance of penetrance and carrier states with regard to preemployment genetic screening 11 Why are there no carrier states with the dominantly inherited traits 12 What is Mary Lyon39s hypothesis and what are it39s implications She discovered that one of the two copies of the X chromosome that is present in females is inactivated In the normal human female only one X chromosome is activated and the other in inactivated 13 The sex chromosomes are also subject to chromosome abnormalities Describe some of the common conditions discussed in class 14 Distinguish between meiosis and mitosis Describe how nondisjunction accounts for chromosomal abnormalities 15 Several procedures have been developed for fetal diagnosis of selected abnormalities What are the implications of such procedures and who would be considered candidates for their use 16 If a couple suspects that they may have a high risk pregnancy due to an inherited environmental or multifactorial where can they get information and advice Genetic counselor


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