U world 6/13/23 Flashcards
key features of autism spectrum disorder include
Patients with milder forms of autism spectrum disorder frequently have normal language and cognitive development. Characteristic features include deficits in social communication and reciprocal social interactions, restricted interests, and behavioral rigidity that become more apparent as social and academic demands increase.
social communication deficits, and social interactions are restricted with repeated interests and sterotyped behavior.
trouble taking turns in coversations, fixated on sameness and interests
frameshift mutations
deletion or insertion of any number of nucleotides that are not a multiple of 3- changes the reading from during protein translation
A frameshift mutation occurs with the deletion/addition of a number of bases not divisible by 3 in the coding region of a gene. Frameshift mutations alter the reading frame of the genetic code, dramatically changing the protein structure and often resulting in the formation of a premature stop codon
intrabdominal infections/abcessess are most common caused by
polymicrobial and members of the normal colonic flora
Intraabdominal infections are polymicrobial, with B. fragilis and E. coli being the most prominent organisms isolated.
what are the organisms that are apart of normal colonic flora
Bacteroides fragillis, Ecoli, Enterococci and Streptococci
what gram negative rod expresses surface polysaccarhides that have been shown to favor abscess formation?
bacteroides fragilis
what are the 2 phases of type IV delayed hypersensitivity
sensitzation phase: where cutaneous langerhan cells take up the allergen and present them to Cd4- TH1 and Cd8 cells in the lymph nodes. This results in the clonal expansion of allergen sensitive T cells (takes about 12 days)
Elicitation phase: with reexposure to the allergen the APC present the allergen to the sensitized T cells and the T cell mediated damage that causes a puritis erythema, vesicles and bullae this happes 2 days after reexposure.
in type 1 hypersensitivty what happens
initally allergen stimulates TH2 induced B cell heavy chain isotype switching and production of IgE which binds to mast cells
CD40 and CD40 L bind together
reexposure: allergen binds to IGE on mast cells and vasopeptides are released leading to uticaria (minutes)
bullous pemphigoid has autoantibodies against
epidermal and dermal seperation
hemidesmosomes
pemphigus vulgaris has autoantibodies against?
desmosomes
acatholysis
immune complex deposition in small cutaenous vessels causes
cutaneous small vessel vasculittis
what are the symptoms of cutaneous small vessel vasulitis
non blanchable purpura and petechiea
caused by medications **extravasation of red blood cells due to vessel wall inflammation
what gives blood its inital purple bluish color
hemoglobin containg erythrocytes
what converts heme into billiverdin
heme oxygenase
what does heme oxygenase convert heme into
biliverdin, carbon monoxide, ferrous iron
what color is biliverdin
green
Heme oxygenase converts heme to biliverdin, a pigment that causes the greenish color to develop in bruises several days after an injury.
billiverdin is converted to billirubin by
billiverdin reductase
what color is bilirubin
yellow
what is the enzyme necessary for conjugating bilirubin
5’ diphospho-glucuronyl transferase (UGT)
uroporphyrinogen dercarboxylase def is see in what disease
prophyria cutanea tarda
porhobillinogen deaminase def is seen in what disease
acute intermittent porphyria
what is ghrelin
hormone produced in the stomach that responds to facting, it stimulates apetitie and promotes weight gain
what is leptin
hormone produced by fat cells in response to short term food intake and long term adequecy fat stores’
it cats on the hypothalamus to decerase appetite
what blunts leptin action to decrease appetite
obestity
during fasting states leptin levels _
fall
what is insulin
a hormone produced by the pancreatic beta cells in response to high blood glucose levels it decreases appetitie as well.
weight los is associated with _ insulin sensitivity and _ insulin levels
greater
lower
caloric restriction and falling fat stores leads to what changes in weight gain hormones
grhelin
insulin
leptin
with a decrease in fat stores you would see a decrease in leptin
with caloric restriction aka fasting you would see an increase in ghrelin
with weight loss you will see a decrease in insulin
Ghrelin stimulates appetite and promotes weight gain. Leptin and insulin act in the CNS to decrease appetite. Caloric restriction leads to increased ghrelin levels along with decreased insulin and leptin levels, causing an increase in appetite that can make it difficult to maintain weight loss.
lithium adverse effects
diabetes insipidus
hypothyroidism
tremor
ebstein anomaly
valproate adverse effects
hepatotoxicity
NTD
carbamazepine adverse effects
aplastic anemia, SIADH, NTD
lamotrigene adverse effects
benign rash
stevens johnson syndrome
folate derivates are crucial in the synthesis of? (3)
nucleic acids, converting homocysteine to methionine, and generation of 1 carbon carriers
in order for folate to be effective what form should it be in
reduced tetrahydrofolate form of the vitamin
what is the RLE of folate metabolism
dihydrofolate reductase
what happens if there is a thymidylate synthase def
dump cant be converted into dTMP so uracil is incorporated into DNA and this leads to DNA breaks and apoptosis
if you supplement thymidine this will decrease the folate metabolic demand to create thymidine and prevent apoptosis of folate deficent cells
(takes 5,10 metheletetrahydrofolate to dihydrofolate)
Folate deficiency inhibits the synthesis of nucleic acids, particularly the formation of thymidine. This leads to defective DNA synthesis and increased apoptosis affecting hemopoietic cells (megaloblastic anemia). Thymidine supplementation bypasses the enzyme thymidylate synthase and can reduce erythroid cell apoptosis
patient who is thin with brusises, gingival bleeding with normal platelets and coagulation factors have a _ def
vitamin C deficiency (scurvy)- insufficent intake
is vitamin C a water soluble vitamin
yes
it aids in collagen synthesis
what are the symptoms of vitamin C def
perifollicular hyperkeratosis
coiled hair
poor wound healing
fragility of vasculature ( gingival bleeding, ecchymoses, petichiae
what is the most commmon cause of hyponatremia following a subarachnoid hemorrhage
syndrome of inapproporiate antidiuretic hormone
hypothalamic damage after a SAH can trigger excessive secretion of ADH can cause retention of water and high concentrated urine
ADH is normally released when and from where
from the hypothalamus and posterior pituitary in response to elevated serum osmolality (SALT) or decreased blood volume
in primary polydipsia _ can lead to excessive water intake and hyponatremia with normal levels of ADH
defective central thirst regulation
(usually a psych condition)
in an expansive population pyramid what is going on
it is broad at the bottom and narrow at the top
there are high birth rates and high mortality rates meaning there is a short life expectancy and the population is young and growing ( common in developing countries)
in a stationary population pyramid what is going on
the graph is somewhat rectangular indicating a stable population
that has declining birthrates, low mortality rates, and long life extectancies
what is going on in a constrictive population graph
narrow bottom
this population is shrinking and has a very low birthwat and mortality rates with long life expectancies
(advanced countries)
warfarin MOA
anticoagulant that inhibits the activation (carboxylation) of K dependent clotting factors (vitamin K antagonist) especially favtor VII which will then prolong PT time. (extrinsic pathway )
can look at INR too
side effect of warfarin
bleeding (reversal with FFP or vitamin K)
skin necrosis (transiet hypercoaguable state)
teratogenic
usually just bridges heparin treatment
aPTT is used to monitor
heparin (intrinsic pathway_
bleeding tume is used for the assessment of
platelet function
the combination of decreased fibrinogen levels and fibrin split products like d-dimer is characteristic of
disseminated intravascular coagulation (DIC)
tracheoesophageal fistula with esophageal atreas results from
failure or the primitive foregut to appropriately divide into seperate tracheal and esophageal structures
symptoms of a TEF/EA in a newborn
polyhydraminos on ultrasound (cant swallow amniotic fluid)
drooling, choking, coughing and cyanosis with feeds
choanal atresia
congenital obstruction of posterior nasal passages
upper airway obstruction and cyanosis with feeding cannot pass nasal gastric tube through the nares
standard precautions
all patients require standard precaustions
handwashing before and after patient
proper disposal of instruments
C diff infection requires what precaustions
contact precautions
wash with soap and water gown, and non sterile gloves, private room
what are the measures for contact precautions and what organisms call for contact precautions
hand hygeine
nonsterile gloves
gown
private room
MDR organsim, enteric organisms- C. diff, and scabies
what are airborne precautions and when should you employ them
insolated room with negative pressure ventilation and respirator mask to avoid aerosolized particles less than 5 microns
- tuberculosis, varicella
sterile gloves and gowns are used for
minor procedures or surgeries
what are the labs associated with pagets disease of bone
elevated alkaline phospatase
normal calcium and phosphorus
thickening of cortical and trabecular bone
Paget disease of bone is characterized by excessive and disordered bone formation. It commonly affects the skull, long bones, and vertebral column. The increased formation of new bone is associated with an elevated serum alkaline phosphatase level. Radiographs shows lytic or mixed lytic-sclerotic lesions, thickening of cortical and trabecular bone, and bony deformitie
trigeminal neuralgia
compression of the trigeminal nerve root as it enters the pons leading to demyelination and atrophy of the nerve
- compression due to an abnormal vascular loop of the superior cerebellar artery
symptoms: paroxysmal attacks of neuropathic shock like pain, unilateral, brushing teeth is a trigger, no other neurologic deficits
dermatomyositis is a systemic autoimmune disease with proximal muscle weakness and skin features (helitrope rash, grotton papules) and perifasciular inflammation. It can occur alone or as a _
paraneoplastic syndrome with underlying adenocarcinoma
outer cortex of the lymph node consits of?
primary and secondary lymphoid follicles and CD4+ cells (T and B cell interaction)
paracortical zone of the lymph node contains what
T lymphocytes and dendritic cells
absence of B cells leads to what structures not being formed
germinal centers and primary lymphoid follicles
proximal and distal attachment of posterior cruciate ligament
medial femoral condyle
posterior intercondylar tibia
posterior drawer test*
proximal and distal attachment of anterior cruciate ligament
lateral femoral condyle
anterior intercodylar area of the tibia
(anterior drawer test)
proximal and distal attachement of lateral collateral ligament
lateral epidcondyle of the femur
fibular head
(resists varus force)
proximal and distal attachment of the medial collateral ligament
medial epicondyle of the femur
medial condyle of the tibia
(resists valgus force)
what is a common manifestation of a posterior cerebral artery stroke regarding vision
homonymous hemianopia ( same half of the visiual field is affected in both eyes) with macular sparing
homonymous hemianopia ( optic radiations)
The most common finding with posterior cerebral artery stroke is contralateral homonymous hemianopia. The macula is often spared because there is collateral circulation from the middle cerebral artery to the occipital pole, the area that processes central vision.
the posterior cerebral artery supplies the
occipital lobe which contains the primary visual cortex
occlusion of the central retinal artery symptoms
sudden painless complete loss of vision in 1 eye
PICA injury causes lateral medullary syndrome what is this
pain and temperature loss in the contralteral body and ipsilateral face, ipsilateral bulbar weakness, vertigo, ataxia, and horner syndrome
afferent pupillary defect symptoms (demylination of the optic nerve)
absent bilateral pupillary constriction when shining light into affected eye
normal pupillary constiction of both eyes with light in the affected eye
The optic nerve carries the afferent limb of the pupillary light reflex pathway, which activates the efferent limb bilaterally and causes both direct and consensual pupillary constriction. Unilateral optic nerve lesions (eg, demyelination due to optic neuritis) can result in impaired pupillary constriction bilaterally when light enters the eye ipsilateral to the lesion. When light enters the contralateral eye, pupillary constriction occurs normally in both eyes.
defect in the efferent portion of the pupillary light reflec pathway carried by CN III causes
pupillary constriction in the eye ipsilateral to the lesion is impaired when light is shone in either eye
pupillary constriction in the contralateral eye occurs normally (preserved afferent input)
side effects of lopp diuretics (furosemide)
otocivity (hearing impairement, deafness, tinnitus), hypokalemia, hypomagnesiuma, and hypocalcemia
in a leukamoid reaction due to infection there is signifigant leukocytosis: what do the neutrophils look like and what are the leukocyte alkaline phosphate levels
they can be mature with basophilic oval inclusions known as dohle bodies, they can be bands, and precursors
keukocyte alkaline phosphate will be increased or normal (in CML they will be decreased)
what is basophilic stippling
ribosomal precipatiates (blue granules) in the cytoplasm of red blood cells that are seen in lead positioning, thalassemias or alcohol use disorder
what is a necrotic infection of the pulmonary parenchyma that has copious sputum production and caviation with air fluid level
lung abcess
what are the key players in formation of a lung abcess
neutrophils
they release cytotoxic granules from lyosomes containing myeloperoxidase to destroy the bacteria and this can cause a lung abcess to occur or liquefying necrosis
what are the physiological changes to high altitude
peripheral chemoreceptors:
lungs:
sympathetics:
brain:
peripheral chemoreceptors: stimulate hyperventilation and cause respiratory alkalosis ( shift left)
lungs: vasocontriction of the pulmonary vasculature which increases resistance
sympathetics: increased heart rate and cardiac output
brain: cerebral vasodilation to increase cerebral blood flow
An array of physiologic responses takes place to maintain adequate O2 delivery to the tissues in the hypoxic environment at high altitude. These include hypoxic pulmonary vasoconstriction (increased pulmonary vascular resistance), increased sympathetic activity to increase cardiac output, and aldosterone suppression to reduce plasma volume.
