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
signs of urethral transection
blood at meatus or in scrotum, or displaced prostate. foley is CONTRAINDICATED
urine output for children with foley
1 ml/kg/h
AMPLE for obtaining history
allergies, medications, past medical hx/ pregnancy, last meal, events/ environment leading to injury
skin physical assessment for injured child
search for lacs, hematoma, burns, swelling, bruising, remove foreign body. ask about tetanus vaccination
head physical assessment for injured child
check for hemotympanum, clear or bloody cerebrospinal fluid leak from nares. battle sign ( hematoma over mastoid). raccoon eyes sign of basilar skull fx. look for wounds, foreign body. CT scan
sign of basilar skull fx.. what vaccine to give
raccoon eyes. consider pneumococcal vaccine
spine exam of injured child
check for spine pain with palpation. obtain xray…if child is obtunded still wait for child to awaken before clearing spine
seat belt sign
abdomen pain and tenderness with linear contusion across abdomen. increases risk of intra abdominal injury
x linked dominant definition
mutation will produce a protein when present in heterozygous state, sufficient to cause change in characteristic
characteristics of x linked dominant
- characteristic occurs with same frequency in males and females, 2. affected male mated to normal female will produce characteristic in 50% of offspring, 3. affected homozygous female mated to normal male will produce characteristics in all offspring, 4. heterozygous female mated to normal male will produce characteristic in 50% of offspring, 5. occasional heterozygous females may not show the dominant trait on the basis of the Lyon hypothesis
polygenic inheritance def and examples
inheritance of single phenotypic feature as a result of the effects of many genes. examples : cleft lip, club foot, meningomyelocele, dislocation of hip
mitosis
division of somatic cells
prophase
chromosome filaments shorten, thicken, and become visible. 2 long parallel spiral strands lying adjacent to one after. stands begin to unwind, nuclear membrane disappears
metaphase
2nd phase of mitosis, formation of spindle and lining up of chromosomes in pairs
anaphase
3rd phase of mitosis, centromere divides and each daughter chromatid goes to 1 of poles of the spindle
signs of pelvic fx
pain, crepitus, abnormal motion. foley insertion contraindicated
tx goals for acute head injury in children
aggressively treat hypotension to optimize cerebral perfusion, provide supplemental o2 to keep above 90%, achieve eucapnia (end tidal co2 35-45 mm hg), avoid hyperthermia, minimize painful stimuli
tx of choice for acute seizures in children in hospital
fosphenytoin or levetiracetam
most common head injury in children
traumatic brain injury
head injury symptoms
non specific, headache, dizziness, n/v, disorientation, amnesia, slowed thinking, preservation
AVPU
alert, responsive to voice, responsive to pain, unresponsive
Glasgow coma scale
score 3 to 15, under 8 indicates cns depression requiring positive pressure ventilation
imaging for head injury
CT
head injury differential diagnosis
cns infection, toxicological ingestion, inborn errors of metabolism
risks associated with open head injury, precautionary tx
risk for infection due to direct contamination. allow entry portal for streptococcus pneumoniae. give pneumococcal vaccination
early symptoms of acute intracranial hypertension
ams, headache, vision changes, vomiting, gait difficulties, pupillary abnormalities, PAPILLEDEMA, stiff neck, cranial nerve palsies, hemiparesis
late signs of acute intracranial hypertension
Cushing triad (bradycardia, hypertension, irregular respirations
diagnostics for acute intracranial hypertension
consider CT before lumbar puncture due to risk of herniation
ICP tx in children
intubate, give sedative and paralytic. maintain pco2 between 35 and 40, give mannitol. elevate HOB, keep head midline, consult neurosurgery
s/p concussion in children
no sports until symptom free at rest and with exercise without medication use. usually 1 to 2 weeks
superficial thickness burns
painful, dry, red, hypersensitive. ex:sunburn
superficial partial thickness burns characteristics
red, blister
deep partial thickness burn characteristic
pale, edematous, blanch with pressure, decreased sensitivity to pain
full thickness burns
white or black, dry, depressed, leathery, no sensation
deep full thickness burns
most severe, burn down to muscle and bone
compilation of severe burns
contracture, compartment syndrome, renal failure secondary to myoglobinuria from rhabdomyolisis
major burn category areas
hands, feet, face, eyes ears, perinuem
what types of burns are counted when calculating % body surface area
partial and full thickness. NOT superficial
tx for superficial and partial thickness burns
Pain control, saline irrigation, application of antibiotic ointment and nonadherent dressing (petroleum gauze). leave small blisters intact. drain larger blisters or leave intact, then protect with bulky dressing. reexamine in 48 hours.
home tx for superficial and partial thickness burns
cool compress, hydrocodone or oxycodone
oral or nasal burn/ inhalation injury actions and considerations
establish artificial airway. singing of oro or nasophharynx needs immediate intubation. consider toxicity from carbon monoxide, cyanide, or other combustion products. place ng tube and foley
fluid resuscitation for full thickness and deep burns
fluid needs are based on weight and percentage of BSA. parkland formula for fluid therapy is 4 mL/kg/% bsa burned for 1st 24 hours with half administered in 1st 8 hours along with maintenance rates. urine output should be 1 to 2 mL/kg/hr
admission for children with burns
burns greater than 10% BSA/ inhalation injuries/ abuse should be admitted. admission warranted for adequate pain control. burns greater than 20% or full thickness greater than 2% should be admitted to children’s center or burn center with burn specialist
burn prognosis
the greater the surface area and depth of burn the greater the risk of long term morbidity and mortality .
electrical burns in children: what to expect
children awake and alert at time of eval after electrocution, ecg not necessary. exposure to high voltage current causes “locking on” effect causing tetany. Can cause extensive nerve and muscle injury, fxs, and cardiac arrhythmias
heat cramps
brief severe cramps of skeletal or abdominal muscles following exertion. core temp is normal or slightly elevated. No lab eval indicated
heat exhaustion
pt sweats and have varying degrees of sodium and water depletion. core temp normal or slightly increased. weakness, fatigue, headache, disorientation, pallor, thirst, nausea, muscle cramps, possible shock.
heat stroke
life threatening, neuro dysfunction. same symptoms as great exhaustion but severe cns dysfunction is hallmark. incoherent/ combative. severe cases include vomiting, shivering, coma, seizures, nuchal rigidity and posturing.
diagnosis of heat stroke
rectal temp above 40.6 C (105 F)
severe complications of heat stroke
cellular hypoxia, enzyme dysfunction and disrupted cell membranes lead to global end organ derangement. may develop rhabdomyolysis, myocardial necrosis, electrolyte abnormality, acute tubular necrosis, renal failure, hepatic degeneration, acute respiratory distress, DIC
heat stroke differential diagnosis
viral gastroenteritis, sepsis, neuroleptic malignant syndrome, malignant hyperthermia, anticholinergic poisoning
heat cramps tx
get out of heat, remove clothing, rest, rehydrate with electrolyte solution
heat exhaustion tx
iv fluid rehydration
heat stroke tx
address ABCs and give o2, place monitor, rectal temp, foley and ng tube. give iv fluids isotonic crystalloid for hypotension, give diazepam for comfort, central venous pressure monitoring. active cooling (stop at 39 C or 102 F to prevent shivering) admit pt PICU
heat stroke labs
cbc, electrolytes, glucose, creatinine, pt and put, creatine kinase, liver function test, abg, urinalysis, serum calcium, magnesium and phosphate
prognosis for heat cramps, heat exhaustion and heat stroke
heat cramps and heat exhaustion: full recovery; heat stroke: risk of end organ damage…but should recover fully
hypothermia
core temp under 35 C (95 F), usually related to water submersion
hypothermia symptoms
peripheral vasoconstriction, cool mottled skin, shivering, temp falls, heart rate slows, mental status declines. severe cases mimic death: pale, cyanotic, pupils fixed or dilated, muscle rigidness , may not have palpable pulses. HR of 4 -6 beats per min may be adequate perfusion due to lowered metabolic needs in severe hypothermia. don’t call death until unresponsive after rewarmth and resuscitation efforts
causes of hypothermia besides cold exposure and who’s at risk
sepsis, metabolic derangement, ingestion, cns disorder, endocrinopathies. neopates, trauma victims, and chronically disabled most at risk.
labs and imaging for hypothermia
cbc, electrolytes, coagulation studies, glucose, and blood gas studies, cxr
hypothermia tx
may go into asystole or v give, start cpr, defibrillation and epi won’t work until pt is rewarmed. cover with blankets, warm bath immersion, watch for afterdrop (drop in temp after rewarming). extensive warming is warmed 02,warm crystalloid fluids, warm peritoneal and pleural lavage
hypothermia prognosis
may have cns anoxic injuries and lung injury
risk factors for submersion injury
epilepsy, alcohol, lack of supervision
submersion injury symptoms
cough, nasal flaring, grunting, retraction, wheezes, cyanosis. child rewarmed but remains apneic and pulseless will probably not survive or will have severe Neuro deficits
imaging for submersion injury
cxr and ct brain
submersion injury complications and prognosis
anoxia from laryngospasm or aspiration leads to irreversible cns damage after 4 to 6 minutes. protection from anoxia only occurs if child falls through ice or directly into icy water
options for laceration repair
staples, sutures, tissue adhesive (never use on highly contaminated wound like a bite)
laceration tx
give pain medication, irrigate with normal saline or tap water, debride tissue, remove foreign material, closure, antibiotic ointment, tetanus shot
infection from dog bites
dogs may carry pasteurella canis, pasteurella multocida, and streptococci staphylococci. treat with amoxicillin and clavulanic acid
complications of dog bites
scarring, infection, cns infection, septic arthritis, osteomyelitis, endocarditis, sepsis, posttraumatic stress
complications of cat bite
tenosynovitis, septic arthritis, cellulitis
cat scratch disease findings
papule, vesicle, or pustule at site of inoculation. hallmark of csd is regional lymphadenitis
cleaning of cat puncture wounds
high pressure irritation contraindicated since it may force bacteria deeper. soak in dilute providone iodine solution for 15 minutes. give tetanus shot, DO NOT close wound
infection from cat wound
p multocida is most common pathogen in cats. give first line amoxicillin and clavulanic. admit pt if infected wound is hand or foot
absorption rates in order
iv, inhalation, sublingual, IM, subq, nasal, oral, rectal, dermal
body burden
total amount of drug or toxin within body and may be useful to determine dose absorbed from ingestion
blood levels in poisoning
Don’t go by blood levels. treat symptoms
high risk ingestant
caustic solutions, hydrogen fluoride, drugs of abuse, or medications such as calcium channel blocker, opiod, hypoglycemic, and antidepressant. and also if poisoning was intentional
skin burn from contaminant tx
flood with sterile saline solution or water
emesis and lavage in Peds pt
don’t use in routine management of poisoning
charcoal use in peds
shouldn’t be used routinely, never give to those with ams who can’t protect airway. repeat 4 to 6 hours until passed through rectum. DON’T use for ingestion of heavy metals, hydrocarbons, caustic, and solvent ingestions
charcoal dosage peds
1 to 2 g/kg (max 100 g) per dose. repeat dose for slow passage agents, but DON’T repeat sorbitol or saline cathartics (would cause fluid loss and electrolyte imbalances)
use of cathartics in peds
don’t improve outcome and should be avoided
whole gut lavage in peds
orally administered, non absorbable hypertonic solution (golytely). use with poisoning with sustained release preparations, mechanical movement of items through bowel (like cocaine packets) and poisoning with substances poorly absorbed by charcoal (like lithium and iron). contraindications in those with intestinal blockage
alkaline diuresis for enhanced excretion
used for tx of salicylate toxicity and to prevent methotrexate used on substances whose pK8 is less than 7.5. sodium bicarb used. observe for hypokalemia.
hemodialysis for peds poison treatment
used when potentially life threatening toxicity is caused by dialyzable drug and cannot be treated by conservative means, or there renal failure or insufficiency, or marked hyperosmolality or severe acid base or electrolyte disturbances not responding to therapy
poisoning by Tylenol/paracetamol tx
abnormalities in liver function may not show for 72 to 96 hrs. treat with acetylcysteine (acetadote) oral or IV. get blood levels 4 hours after ingestion
acetylcysteine dosage for over 40kg
over: IV administered as loading dose of 150mg/kg administered or 15-60 minutes, followed by infusion of 50 mg/kg over 4 hours, then 100 mg/kg over 16 hours
alcohol/ethanol consumption in children
children show change in sensorium with blood levels as low 10 to 20 mg/dL and should be seen immediately. intoxication increases risk of subarachnoid hemorrhage
alcohol/ethanol consumption tx
manage hypoglycemia and acidosis. start IV drip of d5w or d10w if bg less than 60. death is usually because of resp failure. in severe cases, cerebral edema may occur
amphetamine acute poisoning symptoms
common poisoning because diet pills and it’s use in adhd medication. anxiety, hyperactivity, hyperpyrexia, diaphoresis, htn, abd cramps, n/v, and inability to void urine, hyponatremia and seizures. severe cases lead to rhabdomyolysis and toxic psychosis