Nurs 221 Pathophysiology midterm 1 Exam Questions With Verified Answers

Nurs 221 Pathophysiology midterm 1 Exam Questions With Verified Answers Marfan Syndrome - answerconnective tissue disease autosomal dominant cardiac, musculoskeletal, and ophthalmologic systems are most affected cardiac musculoskeletal ophthalmologic - answerWhat systems are most affected by Marfan Syndrome? long slender fingers excessive height joint laxity - answerWhat are the predominant characteristics of Marfan Syndrome? Phenylketonuria (PKU) - answercauses the amino acid Phenylalanine to accumulate in the body because of the non production of the enzyme phenylalanine hydrolase - autosomal recessive phenylalanine - answerPKU affects the degredation of ___. Phenylalanine hydrolase - answerWhat do people with PKU lack? intellectual disability (from building Phenylalanine levels) - answerIf PKU goes untreated, what can happen? Classic PKU (infants appear normal until several months old, causes permanent intellectual disability without treatment, seizures, delayed development, behavioral problems, and psychiatric disorders) - answerWhat is the most severe form of PKU? all proteins and some artificial sweeteners - answerWhat is Phenylalanine found in? lifetime diet with limited protein intake taking a PKU formula (special nutritional supplement that contains essential proteins and nutrients without phenylalanine that are crucial for growth and general health) - answerWhat is the treatment of PKU? Fragile X Syndrome - answerchanges in the FMR1 gene that prevents the body from making a protein necessary for normal brain development most common cause of inherited intellectual disability x-linked dominant Fragile X Syndrome - answerWhat is the most common cause of inherited intellectual disability? men (women have milder symptoms) - answerWho does Fragile X Syndrome predominantly affect? autistic behaviors poor eye contact significant intellectual disabilities - answerWhat are the behavioral features of FXS? large ears long face - answerWhat are the physical features of FXS? epicanthal folds slanted eyes flat facial profile malformed ears congenital heart disease acute lymphoblastic leukemia growth failure flat occiput big, protruding, wrinkled tongue intestinal malformations short, broad hands with simian crease wide gab between first and second toes - answerWhat are the clinical features of a child with Down Syndrome? Down Syndrome - answerWhat is a numeric disorder involving autosomal chromosomes? Trisomy 21 - answerWhat is another name for Down Syndrome? small stature broad chest with widely spaced nipples poor breast development ovarian dysgenesis with primary amenorrhea, estrogen and progesterone deficiencies infertility multiple pigmented nevi lymphedema of hands and feet low posterior hairline webbed neck coarctation of aorta and bicuspid aortic valve wide carrying angle of arms retardation of bone age - answerWhat are the clinical features of Turner Syndrome? absent/nonfunctioning ovaries (causing a lack of secondary female sexual characteristics) - answerWhat is the most prominent clinical feature of Turner Syndrome? Turner Syndrome - answerWhat is a numeric disorder involving sex chromosomes? a group of conditions that can occur in a person whose mother drank alcohol during pregnancy - answerWhat are FASDs? Fetal Alcohol Spectrum Disorders - answermother drank alcohol during pregnancy causing physical problems and problems with behavior and learning in her child no (a woman may not know she's pregnant for up to 4-6 weeks, 50% of US pregnancies are unplanned) - answerIs there a safe amount to drink when pregnant or trying to get pregnant? Marfan Syndrome Phenylketonuria (PKU) Fragile X Syndrome (FXS) Down Syndrome Turner Syndrome Fetal Alcohol Spectrum Disorders (FASDs) - answerWhat genetic disorders are we required to know for this class? - answerWhat neoplasia disorders are we required to know for this class? slower - answerThe longer the life expectancy of the cell, the ___ the mitotic rate.