Heredity & Disease Chapter 5
Help!
|
|
||||
|---|---|---|---|---|---|
| Hereditary diseases are also called | genetic (familial) diseases
🗑
|
||||
| Hereditary diseases are caused by a | defective gene(s)
🗑
|
||||
| genes represent the | blueprint of how the body is constructed
🗑
|
||||
| The blueprint is also expressed in an abbreviation called | DNA
🗑
|
||||
| Genes are found in groups called | chromosomes
🗑
|
||||
| Normally, each human has | 46 chromosomes
🗑
|
||||
| Each parent donates | twenty three (23) chromosomes to each child
🗑
|
||||
| Heredity(genetic) diseases include: | 1.Polydactyl-extra fingers/toes 2.Achondroplasia-dwarfism 3.PKU(Phenyl Keton Uria)-dietary enzyme deficiency 4.Galactosemia-cause liver,eye,kidney & brain damage 5.SCA(Sickle Cell Anemia)-sickle shape RBC 6.Albinism-absence of melanin
🗑
|
||||
| Heredity(genetic) disease include continued | 7.Achromatopsia-color blindness 8.Hemophilia-absense of clotting factor(s) 9.CF(Cystic Fibrosis) 10.DS(Down Syndrome) trisomy(3) of chromosome 21
🗑
|
||||
| Enzymes are | chemical catalysts
🗑
|
||||
| Catalysts refer to | anything that causes reactions to occur
🗑
|
||||
| Neonates are routinely tested for PKU in the hospital because left untreated this condition causes | MR(mental retardation)
🗑
|
||||
| Tx for PKU includes | a modified diet of no protein /can not have (Milk, meat, eggs, nuts, legumes(beans) & aspartane)
🗑
|
||||
| Tx for galactosemia includes: | diet modifacation(NO lactose-dairy)
🗑
|
||||
| SCA(SickleCellAnemia) occurs when erythrocytes (RBCs) are | produced with a sickle shape that inhibits respiration(exchange of gases/CO2 & O2) and causes agglutination
🗑
|
||||
| agglutination refers to the | clumping together of the deformed erythrocytes(RBCs)
🗑
|
||||
| Agglutination can cause | SCC(Sickle Cell Crisis)
🗑
|
||||
| signs & symptoms of SCC (Sickle Cell Crisis) include: | vascular occlusion(infarction), tissue ischemia (starving of O2), necrosis(death), thoracodynia(chest pain), dyspnea(difficulty breathing), hemolytic anemia(red blood cell destruction), severe pain & organ failure.
🗑
|
||||
| SCA(Sickle Cell Anemia) primarily affects | African Americans
🗑
|
||||
| Dx of SCA(sickle cell anemia) is confirmed with a | microscopic examination of the erythrocytes (RBCs)
🗑
|
||||
| Tx for SCA includes | a. blood transfusions b. Analgesics(pain relievers) c. O2(Oxygen) therapy
🗑
|
||||
| Hemophilia is a | coagulopathy (disease condition of clotting) that occurs with an absence of a clotting factor(s)
🗑
|
||||
| CF(Cystic Fibrosis) is characterized by | pulmonary & pancreatic dysfunction
🗑
|
||||
| The incidence of DS(Down Syndrome) is higher among children born to mothers over the age of | 35
🗑
|
||||
| Characteristics of DS(down syndrome) include | a.Mild to profound Mental Retardation(MR) b.Eyes appear slanted and wide set c.Protruding tongue d.Short flat nose e.Short statue f.very affectionate g.A straight crease extends across the palms of the hands
🗑
|
||||
| Charactristics of DS continued | h.the little fingers are shorter than normal i.shortened life span due to higher incidence of heart defects, respiratory infections & leukemia
🗑
|
||||
| The Dx(diagnosis) of genetic diseases can be obtained by performing an | Amniocentesis or CVS(Chorionic Villus Sampling)
🗑
|
||||
| congenital defect(s) are acquired during gestation(pregnancy) and not through | heredity
🗑
|
||||
| Common causes of congenital defect(s) include | 1.Hypoxia(deficient O2) 2.Maternal infection(mom gets Rubella/german measles) 3.Drug use 4.Malnutrition 5.Radiation
🗑
|
||||
| Congenital defects include: | CP(cerebral palsy) CHD(Congenital Heart Defect) SB(Spina Bifide) CL(Cleft Lip) CP(Cleft palet) EA(Esophageal Atresia/closed off) PS(Pyloric(valve into stomach)Stenosis)
🗑
|
Review the information in the table. When you are ready to quiz yourself you can hide individual columns or the entire table. Then you can click on the empty cells to reveal the answer. Try to recall what will be displayed before clicking the empty cell.
To hide a column, click on the column name.
To hide the entire table, click on the "Hide All" button.
You may also shuffle the rows of the table by clicking on the "Shuffle" button.
Or sort by any of the columns using the down arrow next to any column heading.
If you know all the data on any row, you can temporarily remove it by tapping the trash can to the right of the row.
To hide a column, click on the column name.
To hide the entire table, click on the "Hide All" button.
You may also shuffle the rows of the table by clicking on the "Shuffle" button.
Or sort by any of the columns using the down arrow next to any column heading.
If you know all the data on any row, you can temporarily remove it by tapping the trash can to the right of the row.
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.
Normal Size Small Size show me how
Normal Size Small Size show me how
Created by:
pattiluv
Popular Medical sets