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