AHN 548 Unit 2 Flashcards
Unit 2
What is autosomal dominance
mutation has occurred in 1 gene of an allelic pair and that the presence of this new gene produces enough of the changed protein to give a different phenotypic effect
characteristics of autosomal dominant inheritance (4)
- trait appears with equal frequency in both sexes, 2. at least 1 parent must have the trait unless a new mutation has just occurred, 3. when homozygous individual is mated to a normal individual, all offspring will carry trait. if heterozygous individual is mated to a normal individual, 50% of offspring will show trait, 4. if the trait is rare, most persons demonstrating it will be heterozygous
characteristics of autosomal recessive inheritance (5)
- characteristic will occur with equal frequency in both sexes. 2. for characteristic to be present, both parents must be carriers of recessive trait. 3. if both parents are homozygous for the recessive trait, all offspring will have it. 4. if both both parents are heterozygous for recessive trait, 25% of offspring will have it. 5. frequent occurrence of individuals with rare recessive characteristics, consanguity is often present
x linked recessive, what is it
occurs when gene on x chromosome undergoes mutation and the new protein formed as a result of this mutation, is incapable of producing a change in phenotype characteristic in the heterozygous state
x linked recessive characteristics (4)
- condition occurs more commonly in males than in females. 2. if both parents normal and an affected male is produced, it must be assumed that the mother is a carrier of the trait. 3. if father is affected and an affected male is produced, the mother must be at least heterozygous for the trait. 4. female with trait may be produced in 2 ways: may inherit a recessive gene from both her mother and father (father is affected and mother is heterozygous), may inherit recessive gene from 1 of her parents and may express the recessive characteristic as a function Lyon hypothesis
examples of autosomal dominant conditions and traits (11)
cataracts, color blindness (yellow blue), deafness, Huntington’s chorea, keloid formation, marfans syndrome, mitral valve prolapse, muscular dystrophy, pectus excavatum, von willebrand, wolff-parkinson-white syndrome
examples of autosomal recessive conditions (9)
albinism, total color blindness, cystic fibrosis, deafness, galactosemia, glaucoma, phenylketonuria, sickle cell anemia, tay Sachs disease
ABCDE of primary survey if trauma (what do these letters stand for)
airway, breathing, circulation, disability (Neuro), exposure
CAB meaning for patients that are apneic or have agonal breaths
chest compressions, open the airway, provide two rescue breaths
airway : primary survey
failure to maintain airway most common cause of preventable death; give all pts high flow 02 at 100%, apply manual stabilization of neck then apply collar
signs of pneumothorax
asymmetric breath sounds, trachael deviation, cyanosis, bradycardia
How to evacuate tension pneumothorax
insert large bore catheter over needle assembly attached to a syringe through 2nd intercostal space, midclavicular line. withdraw air
tx for pneumothorax and hemothorax
place chest tube in 4th or 5th intercostal space in anterior axillary line. insert over rib to avoid neurovascular bundle. connect to water seal
tx for open pneumothoraces
treat temporarily with petroleum gauze tapped on 3 sides to create flap
when does child need endotrachael intubation
Glasgow less than 9 (decreased loc), need for prolonged ventilation, severe head trauma, or impending operative intervention
airway route of choice for children
orotrachael intubation, no need for cervical manipulation
contraindication for nasotracheal intubation
midfacial injury
risk associated with use of LAM ( laryngeal mask airway
risk for aspiration, shouldn’t be used for prolonged definitive airway management
external hemorrhage control
direct pressure, only use hemostats on scalp
signs of cardiac tamponade
s/p penetrating or blunt injury. signs: shock, pulseless electrical activity, narrowed pulse pressure, distended neck veins, hepatomegaly, muffled heart sounds
diagnostic and tx for cardiac tamponade
ultrasound, pericardiocentesis and rapid volume infusion
treatment for poor perfusion
rapid infusion of normal saline or LR at 20ml/kg of body weight. if no improvement after 2 boluses, give 10 ml/kg of RBCs
assessment of Neuro deficit
assess pupils, level of consciousness, use AVPU or Glasgow
maintaining body temp in child with injuries
hyperthermia compromises outcomes in children with acute brain injuries