Half mock 6/16/23 Flashcards
(242 cards)
1
Q
pathogenesis of chediak higashi syndrome
AR
A
mutation in the lysosomal trafficing regulator LYST that leads to defective microtubule polymerization and impaired phagolysosome formation.
this causes lysosome degranulation to be impaired and not able to destroy the bacteria that is inside of the lysosome.
2
Q
symptoms of chediak higashi syndrome
A
recurrent pus forming infections (abcess, pyroderma gangrenosum)
light colored silver gray hair
light blue eyes
albinism
mild coagulation defects
albinism (oculocutaneous)
neurodegeneration
(in childhood)
3
Q
why does chediak higashi syndrome present with albinism and light blue eyes
A
albinism: impaire transfer of enlargent pigment granules to in melanocytes to keratinocytes
blue eyee: iris depigmentation
4
Q
what is the pathogonomonic peripheral smear of chediak higashi syndrome
A
WBC (neutrophils) with large round to oval purple colored intracystoplasmic granules
5
Q
Ataxia-telangiestasia pathogenesis
A
a mutation in ATM gene leads to defective DNA repair
6
Q
symptoms of Ataxia telangiectasia
A
Cerebellar ataxia
angiomas
IgAAAAA deficiency
RESPIRATORY TRACT INFECTIONS
7
Q
Chronic granulomatous disease pathogenesis
A
a lack of normal NADPH oxidase activity leads to decreased ROS and respiratory burst in neutrophils
8
Q
symptoms of chronic granulomatous disease
A
recurrent infections with catalase positive organisms and impaired wound healing
9
Q
what is the most common inheritance pattern of CDG
A
X-linked (boys)
10
Q
pahtogenesis of wiskott aldrich syndrome
A
It is an adaptive and innate immune deficiency resulting from reduced activity of the WAS protein, which links signaling pathways to actin cytoskeleton reorganization. This leads to defective cytoskeleton reorganization in leukocytes and platelets and results in impaired formation of immunologic synapses between T cells and antigen-presenting cells. B cell, natural killer cell, and phagocytic cell functions are also impaired, and neutropenia and myelodysplasia occur in some patients.
no pus formation due to impairement of pus formation
11
Q
symptoms of wiskitt aldrich
A
X linked recessive disorder whith thrombocytopenia, infections and eczema
12
Q
symptoms of Digeorge syndrome
A
absent thymic shadow on chest x-ray
congenital heart defects
dysmorphic facies ( cleft palate)
hypocalcemia
CATCH22
13
Q
leukocyte adhesion deficency type 1 symptoms
A
absent pus, late seperation of the umbilical cord
14
Q
x-linked (bruton) agammaglobulinemia symptoms
A
absent/ scant lymph nodes and tonsils with recurrent bacterial and enterovirus infections
15
Q
osteoporotic fractures
A
fragility fractures that occur from a fall from standing height or less; it occurs in the elderly, people on glucorticoid therapy, low body weight, cigarrette smoking, rheumatoid etc.
16
Q
what does the X ray of an osteoportic fracture look like
A
anterior wedging of one or more vertebrae, biconcave deformitis and compression fractures
17
Q
what is the most common type of osteoporotic fracture and where does it occur
A
vertebral compression and they occur at the mid thoracic junction or the thoracolumbar junction
18
Q
symptoms of a veterbral compresion fracture
A
acute back pain after minor trauma (lifting/sidebending)
19
Q
what is spondylolysis ?
A
a unilateral or bilateral defect in the vertebral pars interarticularis (usually in the lumbar region)
acquired bone fatigue will cause microtrauma to the segment that causes acute low back pain.
**scotty dog on Xray
20
Q
what is spondylolisthesis?
A
when there are bilateral spondylolysis defcts the vetebral body and pedicles slips anteriorly
pesrsistent back pain and lack of healing
*stepladder sign on X ray
21
Q
what pathology shows sequestrum and invulcrum on plain fil X-rays
A
vertebral osteomyelitis
sequestrum (avascualr bone) invulcrum (new bone)
22
Q
pathogens in osteomyelitis can reach the bone in what three routes
A
hematogenous , inoculation from trauma or spinal surgery, and continguous spread from adjacent soft tissue
23
Q
MCC of vertebral osteomyelitis
A
staphylococcous aureus
24
Q
osteoid osteoma
A
benign bone forming tumor that has a small radiolucent nidus <2cm that can are in the cortex of long bones but can infiltrate the vetebrae and cause pain that is worse at night will improve with NSAIDS
sclerotic regions can surround the osteoid nidus
osteoid blastoma >2cm usually always in the vertebrae and does not respond to NSAIDS
25
what is ketamine
a dissociative anesthetic that has a rapid onset and short duration it is a N-methyl D aspartate receptor antagonists (NMDA) and activates opiod receptors producing pain relief
preferred if patients have bronchospasm, astham or for emergency intubation
stimulates sympathetic outflow and can cause hypertension and increased cardiac output
## Footnote
anesthetic and analgesic
26
side effects of ketamine
hallucinations/vivid dreams that can persists for several days
depression
dissociative state
diplopia, increased intraocular pressure
27
contraindications to using ketamine
uncontrolled HTN, myocardial infarction, anuerysyn, aortic dissection, schizophrenia
28
what does a dissociative anesthetic drug mean
production of analgesia, amnesia and sedation without loss of consciousness
29
MOA of propofol
GABA agonists that works as an anesthetic and a antiemeetic but can respult in respiratory and cardiovascular depression
30
MOA of propofol
GABA agonists that works as an anesthetic and a antiemeetic but can respult in respiratory and cardiovascular depression
31
what is the conversion pathway from tyrosine to dopamine and why cant dopamine be supplemented by itself in parkinsons disease
tyrosine is converted to L dopa then L dopa is converted to dopamine
dopamine cannot cross the BBB so it is ineffective to exogenous supplement dopamine in the treatment of parkinsons
give LEVODOPA so that it can cross the BBB and then be converted
32
why is carbidopa given in parkinsons therapy
it inhibits dopa carbboxylase and allows for more L-Dope to enter the CNS without being convereted peripherally to dopmaine before it crosses the BBB
33
serotonin is derived the AA _
tryptophan
34
obers test
flex the kee and abduct the hip and then letting it go allowing the hip to adduct. (IT band pathology)
35
the axillary nerve innervates the _ and function in _
deltoid
abduction of the shoulder
36
the radial nerve controls _
extension at the elbow, wrist and fingers
37
abduction of the second through fifth digits of the had is accomplished by
doral interosseous muscles ( ulnar nerve)
38
adduction of the thumb is accomplished by?
adductor pllicius muscle that is innervated by the ulnar nerve
39
wrist flecion is accomplished by what 3 muscles
flexor carpi radialis, flexor carpil ulnaris and palmaris longus
40
index fingers moving superior and the fifth fingers are moving inferiorly
inferior vertical strain
41
non physiological strain patterns
compression, lateral, and vertical
42
non physiologic cranial strain patterns are named for?
the motion occuring at the basphenoid relative to the occiput
43
an inferior vertical strain will have the sphenoid in _
extension and the occiput in flexion
44
a superior vertical strain will have the sphenoid in _
flexion and the occiput in extension
45
both index fingers moving to the left
right lateral strain
46
physioloigcal strains are named for
the side of the most superior greater wing of the sphenoid and the side of convexity ( torsion and SBR)
47
non-physiological strains are named for
what occurs at the SBS (sphenobasilar synchondrosis)
48
somatization
experiencing thoughts or feelings as body sensations
49
reaction formation
turing unnacceptable feelings into their opposite ones
50
altrurism
preforming positive acts as a way to cope with painful feelings or thoughts
51
sumblimations
expressing uncomforatble thoughts are feelings in useful manner
52
distortions
reshaping of external reality to suit inner needs )sustained delusional feelings or superiority or entitlement)
53
gout is precipitated by acute changes in?
a persons serum uric acid
54
risk factors for gout
pascific islander ethnicity, diets rich in meat and seafood, alcohol, sodas and fruit juices, obesity, males
loop diuretics
55
the precipitation of gouty crystals is enhanced in _ temperatures
low. (seen in winter, when sleeping)
## Footnote
urate crystals in the synovial fluid (negatively birefringent to polarized light)
56
colchicine
treats acute gout by binding and stablizing tubulin to inhibit polymerization (imparing leukocyte migration to the affected site)
57
imaging findings in gout
subcortical bone cysts with overhanging edges of bone
58
prevention of gout
allopurinol (xanthine oxidase inhibitor)
59
Lesh-Nyhan SYndrome
Hypoxanthine-guanine phosphoribosyl transferase (HGPRT) deficiency which leads to the buildup of hypoxanthing and eventually gout.
inborn error of metabolism with cognitive disability, self mutilating and agressive behavior
increase in PRPP (goes back to xanthine and uric acid)
60
what is the purine salavage pathway used for
essential in creating nucleotides from degredation products of DNA and RNA
61
symptoms of lesch nyhan syndrome
developmental delay
striatal dopaminergic damage
nail biting
gouty arthritis
urate crystals (in low pH)- rhomboid shaped cystrals
62
urate stones
radiolucent
urine alkalnization is a treatment
63
anterior chapman point for appendix
posterior chapman point for appendix
anterior: right 12th rib
posteiror: lamina of TP T11-T12
64
rosving test
indicative of peritoneal irritation
pain in the RLQ with palpation in the LLQ
65
chapman point for the gonads
pubic bone
## Footnote
testicular cancer, hydroceles, varicoceles and epididymis
66
chronic rejection
months to years after transplantation with a slow decline in the organs function
T and B cell response with a chronic inflammatory response with an overproduction of CD4+ cytokine release leading to collage infiltration and fibrosis of the graft, atrophy and proliferation of smooth muscle
**intersitial fibrosis
type II and type IV HSR
67
CD8+ T cell infilatration into the kidney parenchyma is seen in _ mistmatches and can contrivute to _ rejection
HLA
acute
68
hyperacute rejections involves
preformed antibodies in the recepient that reconizes antigens in the donors graft
activates complement, fibrin infiltration and acute thrombosis leading to inflammation and necrosis
## Footnote
type II hypersensitivty
69
graft vs host disease
grafted T cells reject host cells
type IV hypersensitivity
70
disseminated gonococcal infection
migratory polyarthritis, tensynovitis and dermatitis (fever, fatigue)
treat with certriaxone and a tetracycline (doxy) for suspected coinfection with chlamydia
71
ehlers danlos vascular form is associated with
berry anurysems in the circle of willis
mitral valve prolapse
72
biventricular hypertrophy on ECG
short PR with giant QRS complexes in all leads
73
infantile form of acid alpha glucosidase aka acid maltase deficiency aka POMPE disease
def in lysosomal GAA (alpha 1-4 glucosidase) which leads to the accumulation of glycogen in lysosomes and in the cytoplasm
causes myopathy in multiple systems, affects the heart, hypotonia, muscle reakness, respiratory distress, cardiomegaly in childhood
74
small cell lung cancer is _ located
centrally located
associated with paraneoplastic syndromes
75
meothelioma is in the _ and what are its characterisics
in the pleura
prolonged asbestosis exposure with pleural effusions and pleural plaques
76
paraneoplastic associated with small cell lung cancer
cushing syndrome, hyponatremia (SIADH) and lambert eaton syndrome
77
adenocarcinoma is located _ and what are the characteritics
peripherally located
finger clubbing, non smokers
78
squamous cell carcinoma is located _ and what are some characteristics
located cnetrally
cavitations with paraneoplastic syndtome of hypercalcemia )PTHrp_
79
DKA has what blood gas
metabolic acidosis with respiratory compensation
80
femoral triangle
superiorly:
medially:
laterally:
floor:
superiorly: inguinal ligament
medially: adductor longus
laterally: sartorius
floor: iliacus
81
what is the arragnement of neurovascular structures in the femoral triangle
NAVeL (lateral to medial)
nerve, artery, vein, lymphatics
## Footnote
deep inguinal lymph nodes
82
confidence interval
range of values that has a high probaility of containng the true mean of the entire population
CI of 95% indicated that there is a 95% chance the CI contains population mean.
if it overlaps with 1 it is not statistically significant
83
a 95% confidence interval is equal to a _ P value
0.05 p value
84
a 90 percent CI is equal to a _ p value
0.1 p value
85
familial dysbetalipoproteinemia occurs of a defect in _
apolipoprotein E
increase in chylomicron remnants, VLDL, IDL and LDL
86
muscarinic affects can be remembered with the mnemonic DUMBBELSS which is?
D- diarrhea (increased gastric motility)
U- urination (contract detrusor muscle)
M- miosis (pupillary sphinter contraction
B-bronchspasm
B- bradycaradia
E- emesis
L- lacrimation
S- sweating
S-salivation
87
what is bethanechol
a selective muscarinic aceytlcholin receptor agonist that is used to treat acute urinary retention. It stimulates M3 receptors and activates exocrine glands resulting in lacrimation, salivation, and diaphoresis
it is resistant to acetylcholinesterases
## Footnote
It is important to note that in most clinical settings, bladder catheterization is the first-line treatment for acute urinary retention because of the potential side effects of bethanechol.
88
what is atropine and what are its adverse effects
this is a muscarinic antagonist used to treat bradycardia
it causes the opposite of dumbells and can lead to a series of adverse effects like :
Hot as a hare, Fast as a fiddle, Dry as a bone, Red as a beet, Blind as a bat, Mad as a hatter, and Full as a flask (urinary retention)
89
what are the causes of down syndrome
meiotic nondisjunction or a robertosnian translocation
- increased maternal age
90
in utero trisomy 21 is characterized by?
low AFP, low unconjugated estriol and high HCG and inhibin A on quad screen
nuchal thickening,
91
most common complications of down syndrome include
endocardial cushion defect, early onset alzhemier disease, leukemia (ALL), hirschprung disease, AA instability
92
what is hirschsprung disease
failure to pass first meconium secondary to a lack of NCC migration to the colon in utero
93
abdominal wall and neural tube defects quad/triple screening tests
AFP:
HCG:
Estriol:
inhibin:
AFP: high
HCG: normal
Estriol: n/a
inhibin: normal
94
trisomy 13 quad and triple screening tests
AFP:
HCG:
Estriol:
inhibin:
AFP: high
HCG: normal
Estriol: normal
inhibin: normal
95
trisomy 18 quad and triple screening tests
AFP:
HCG:
Estriol:
inhibin:
AFP: really low
HCG: low
Estriol: low
inhibin: low
96
angelman syndrome
deletion or mutation in the maternal UBE3A gene on chromosome 15 with a pateral gene methylation/ silencing
child will present with seizures, ataxia, intellectual disabilties and frequent laughter
97
williams syndrome
microdeletion of the long arm of chromosome 7 (deletion of elastin)
hypercalcemia, hypersocialability, elfin facies, intellectual disabilitiy, supravalvular aortic stenosis
98
47 XXY
klinefelter syndtome (nondisjunction during meiosis)- testicular dygenesis, and testosterone deficiency)
99
Primary Biliary Cholangitis
autoimmne disorder with T cell mediated destruction of small intralobular bile ducts which can lead to cholestasis and hepatic cirrhosis/failure.
antimitochondrial antibodies, high Alkaline phosphatase
100
anti-ribonuceloprotein
mixed connective tisse disease
101
mixed connective tissue diease
systemic sclerosis, systemic erythematous lupus, and polymyositis
102
primary sclerosing cholangitis antibodies
p-ANCA
103
autoimmune hepatitis antibodies
anti kidney microsome type 1 (LKM1) and anti-smooth muscle
104
the iliotibial band originates from the
tensor fascia lata muscle travels over the lateral femoral condyle and inserts at the gerdy tubercle on the lateral aspect of the proximal tibia
105
what is the function of the IT band
knee extension and flexion and is a lateral knee stabalizer
106
carcinoid syndrome
neuroendocrine tumor that secretes high lecels of 5-Hydroxyinfoleacetic acid *5-HIAA)
carcinoid tumor for small intestines metasatasized to the liver (flushing, wheezing , diarrhea and right sided valvular lesions -tricuspid regurgitation)
107
neuroblastoma tumors secrete
homovanillic acid (HVA), VMA and dompamine and cause hypertension
108
neuroblastoma should be considered in children with
abdominal mass, proptosis, racoon eyes, horner syndrome, paraspinal mass, bladder dysfunction, scoliosis, diarrhea
109
why does obesity in a post menopausal woman increase the risk for breast cancer
there are higher than normal levels of peripheral conversion of precursors to estrogen in adipose tissue
110
isotonic contraction
one that generates a force by changing the length og the muscle
muscle tension is constant as the muscle changes length
111
isotonic contractions can be?
concentric or eccentric
112
concentric contractions
muscle shoortens while generating force
113
upward motion of the bicep curl is what kind of contraction
isotonic concentric contraction
114
eccentric muscle contraction
muscle increases in length with contraction
- lowering the bicep curl
115
isokinetic contraction
velocity of the contraction remains constant (rare and occurs with specialized instruments)
116
isometric contraction
muscle contracts while maintaing constant length
(pushing against an immovable object like the wall)
117
how does a prolactinoma cause amenhorrhea
a prolactinoma is a pituitary tumor that produces prolactin irrespective to dopamin levels (usually under the control of dopamine). Excess prolactin will supress GnRH levels being released from the hypothalamus and cause a decreased level of LH and FSH and subsequent amenorrhea
also galactorhea and decreased libido could cause bilateral hemianopsia if it compresses the optic chiasm
118
turner syndrome 45X ovaries
undergo apoptosis and fibrosis in the ovaries and follicles
119
nephritic syndromes mneumonic
IBRDAM
BRIM-AD
berger disease (iga) , rapidly progressive glomerulonephritis, infection associated, membranoprolifertive glomeruloneprhitis, alport syndtome,
120
membranoproliferative glomerulonephritis on light microscopy
mesangial proliferation, GBM splitting with tram-track apperance
121
causes of membranoproliferative glomerulonephritis
Autoimmune, monoclonal gammopathy , HCV or HBV or idiopathic
122
IgA nephropathy
berger disease- igA deposits in the mesangium with hematuria following a respiratory or Gi infection
123
nephrotic syndrome mnemonic
MFMAD
F- DAMM
Focal segmental glomerulocscerolsis, diabetes glomerulonephropathy, amyloidosis, minimal change disease, membranous nephropathy
124
what is the most common site of hypertensive hemorrhage in patients with long standing hypertension
lenticulostriate arteries that supply the internal capsule
125
posterior limb of the internal capsule contains
descedning corticospinal tract (UMN for the extremities) and ascedning somatosensory pathways for the body and face
- lesions cause contralateral hemiparesis and hemianesthesia
126
genu of the internal capsule contains
descening coticonuclear (corticobulbar tract) and UMN for the face
-lesion would cause motor loss for the contralateral side of the face only
127
lesion in the lateral geniculate nucleus of the thalamus
visual field deficit : contralateral homnymous hemianopia
128
kallman syndrome
lack of embryonic migration of the olfactory bulb cells to the hypothalamus and a lack of puberty development, sexual characteristics and decreased sense of smell.
hypogonadotrophic hypogonadism
129
Prader willi
deletion of the paternally derived chromsome 15 and maternal silencing.
hyperphagia, obesity, hypogonadism, developmental delay, hypotonia and small hands and feet with almond shaped eyes
130
testicular choriocarcinoma
secrete bHCG and presents with precocoious puberty, gynecomastia and loss of libido
when you transilluminate the testes they will not transilluminate
131
neuroleptic malignant syndtome
caused by antipsychotics
fever, muscle rigidity, mental status changes, autonomic instability, rhabdomyolysis and CK elevation
- dantrolene
132
what is the MCC of death in kids less than 1
#1 congential malformation, preterm gestation, pregnancy complications
133
screening for aneuploidy consists of
nuchal translucency, AFP, bHCG, inhibin A, and pregnancy associated plasma protein (PAPP-A)
134
at is the MCC COD in people ages 1-44
accidental injury
135
what is the MCC COD in people aged 45-64
cancer
136
what is the MCC COD in people older than 65
heart disease
137
acetaminophen is metabolized how? - 2 ways
by the liver
converted to nontoxic metabolites by sulfonation and glucuronidation
OR metabolized by CytochromeP 450 enzymes into a toxic metabolite called N-acetyl-p-benzoquinone imine (NAPQ1)
138
how does the body get rid of NAPQI the toxic metabolite from acetaminophen overdose
it is conjgated by glutathione and eliminated through the urine
139
how can acute ethanol reduce acetaminophen induced hepatotoxicity?
it can be converted to acetaldhyde which is a competitive inhbitor or cytocrom P450 and decreasing the rate of acetaminophen metabolism to NAPQI (toxic metabolite)
## Footnote
Acetaminophen and ethanol are metabolized by the same cytochrome P450 enzyme. Through competitive inhibition, acute (not chronic) ingestion of ethanol can lead to decreased conversion of acetaminophen to N-acetyl-p-benzoquinone imine (a toxic metabolite), potentially reducing acetaminophen-induced hepatotoxicity. However, cytochrome P450 2E1 activity is upregulated by chronic ethanol use. As a result chronic alcohol consumption increases NAPQI concentrations and the risk of hepatotoxicity during an acetaminophen overdose.
140
chronic alcohol consumption _ Cytocrhome P450
increases
141
chronic ehtanol consuption _ intrahepatic glutathione synthesisi
decreases
142
what is the normal pressure in the aorta and LV during diastole
aorta: 120/80
LV: 120/10
143
what is the pressure of the aorta and left ventricle during aortic regurgitation (diastole)
aorta: 160/60
LV: 160/20
144
aortic regurgiation is characterized by
rapid loss of aortic pressure during diastole with backflow into the left ventricle
LV become dialted and undergoes eccentric hypertophy
145
characteristics of aortic regurgitation
rapid rise-rapid fall pulsation
widened pulse pressure
rapid distension and collapse of carotid arteries
bruit of the femoral arteries
146
hemodynamic changes in AR on cardiac catherterization show
decreased aortic diasoltic pressure
elevated left ventrical diastolic pressure
increased systolic pressure for both
147
the left ventricle undergoes _ hypertrophy due to pressure overload
concentric
148
AT1-AT6 tenderpoint location and treatment
midline at the sternal notch and sternocostal juncitons
tx: flexion
149
AT7 location and treatment
AT7 location: at rib 7 midline and lateral to the rectus abdominis
tx: F STRA
150
AT8 tenderpoint location and treatment
location: T12 mindline and lateral to the rectus abdominis
tx: FSTRA
151
AT9 tenderpoint location and treatment
location: above the umbilius midline and lateral to the rectus abdominis
tx: FST RA
152
AT 10 and AT 11 location and treatment
AT 10: below umbilicus midline and lateral to rectus abdominis
AT 11: at the sacral base midline nad lateral to rectus abdominis
tx: FSTRA
153
AT 12 tenderpoint and treatment
location: superior to ASIS near iliac crest
154
PT1-PT12 spinous process and transverse process treatments
spinous process: ESARA
transverse process: ESART
155
what is dyskeratosis congenita
a genetic disorder involving mutations in the genes related to telomere maintenece
- cant protect against chromosomal degredation
156
in cells with high turnover rate like _ _ _ the telomere length is maintained by telomerase
epithelial cells, lymphocytes, hematopoietic stem cells
157
telomerase is composed of?
RNA template and reverse transcriptase that adds DNA repeates to the end of telomeres that are lost with each division
without it - premature cell death in rapidly dividng cells (bone marrow failure, mucocutaneous changes, pulmonary fibrosis)
158
disorders in telomerase functioning can result in
mucocutaenous changes like oral leukoplakia
bone marrow failure
pulmonary fibrosis
159
dihydrorhodamine testing evaluates for?
phagocytic oxidative response
- chronic granulomatous disease
## Footnote
The DHR assay detects the conversion of DHR (a colorless substance) to rhodamine (fluoresces green) by free radicals produced when the NADPH oxidase pathway is stimulated (eg, by a protein kinase C agonist such as phorbol myristate acetate). In unaffected patients, stimulated cells show increased intensity of fluorescence (ie, rightward shift along the x-axis), indicating appropriate NADPH activity, whereas unstimulated cells remain colorless. In patients with CGD, the stimulated cells show no increased fluorescence (ie, no oxidation of DHR).
160
chronic granulomatous disease is a disorder of?
phagocyte metabolism characterized by defective NDAPH oxidase an enxyme in the repiratory burst pathway
161
LAD is a deficency in
CD18 integrins with impaired chemotaxis to the site of inflammatino
DHR testing is normal
162
normal hemoglobin consists primarily of hemoglobin _ which migrates rapidly toward the positive electrode
hemoglobin A
163
hemoglobin _ is an abonormal type of hemoglobin in which non plar amino acid valine replaces a negatively charged glutamine in the globin chain.
hemoglobin S
164
hemoglobin _ has a glutamate residue replaced by a lysine
hemoglobin C
165
both Hbc and Hbc result from _ mutations
missense
166
patients with sickle cell disease have _ mutations in both beta chains
HbS
167
patients with HbC disease have _ mutations
HbC (2)
168
metformin MOA
inhibits mitochondrial glycerophosphate dehydrogenase
upregulates AMp activated tyrosine kinase
169
metabolic effects of metformin
decreased hepatic glucose production
decreased intestinal glucose absorption
increased peripheral glucose uptake
decreased lipogenesis
170
adverse effects of metformin
diarrhea, lactic acidosis, vitamin B12 def
171
contraindications for metformin
renal insufficiency, hepatic insufficiency, decompensated heart failure
172
sulfonylureas MOA
stimulate beta cell insulin release leading to decreased glycogenolysis and gluconeogenesis with increased periopheral uptake of glucose
173
normal developmental milestones in preschoolers- 3 year olds
walks up stairs with alternating feet and rides tricycle
dresses with help uses fork and copies circle
says 3 word sentences, knows age and sex and plays with other children
174
developmental milestones in 4 year olds
catches large ball
draws person with 3 body parts
unbuttons clothes
hold pensil between fingers and thumb
knows colors, says greater than 4 word sentences
confronts others
avoids danger
imaginative play
175
developmental milestones in 5 year olds
hops on 1 foot
buttons clothes
writes letters
speaking in full sentences
counts to 10
follows rules and takes turns
nocturnal urinary continence
176
congenital hydrocephalus
a congenital or acquired obstruction leads to the accumulation of cerebrospinal fluid in the brain
infants will have an elearging head circumfrence, bulging fontanelle, poor feeding, and dilation of lateral ventricles
muscle spaciity and hyeprreflexia
177
why does muscle spasticity and hyperreflexia occur in congenital hydrocephalus
UMN injury due to the stretching of periventricular tracts
178
how do you treat congenital hydrocephalus?
placement of a shunt via the ventriculoperitoneal route
179
prolactinomas can cause
galactorrhea, irredular menses, decreased libido
bitemperal hemianopsia (compression of optic chiasm. inthe suprasellar region)
180
treatment of prolactinomas
dopamine agonists (bromocriptine, cabergoline)
181
arterial blood supply to the myocardium is provided by the?
right and left coronary arteries
182
most cardiac venous blood drains into the right atrium via the _
coronary sinus
183
the left ventricle is only perfused during
diastole
- contraction during systole leads to compression of the coronary vesells and disruption of blood flow
184
oxygen extraction is highest in the heart than in any other tissue so the _ is the most deoxygenated blood in the body
coronary sinus
185
increased oxygen delivery to. theheart can only be achieved by
increasing coronary blood flow
186
what are two pharamacological agents that can increase coronary blood flow via vasodilation
adenosine and nitric oxide
187
how does isoniazid resistance occur
decrease in bacterial experssion of the caralase positive peroxidase enzymes (which causes isoniazid activation)
modification of protein target binding site for isonizaid
188
isoniazid may only be used as a mono therapy in tuberculosis when
there is a positive PPD and a negative chest X-ray
189
esophageal swaumous cell carcinoma on histology
keratin pearls with eosinophilic cytoplasm and intercellular bridges (nests of neoplastic squamous cells)
dysphagia, weight loss, poor prognosis (usually in men greater than 50)
190
IL-2 is produced by
CD4, CD8 and NK cells
191
high doses of IL-2 can be used for
renal cell carcinoma and metastatic melanoma
192
what are the effects of high doses of IL-2
IL-2 convertes CD4 into type 1 helper T cells which secrete inflammatory cytokines that drive antitumor response
IL-2 explands the activated pool od CD8 and increasing their cytotoxic killing
IL-2 triggers NK proliferation and dramatically increases their cytotoxic activity (most profound antitumor affect)
193
what is the pathogenesis of systemic sclerosis/scleroderma
1. vascular endothelial cells produce excessive endothelin 1 which causes vasocontriction and activation of fibroblasts, they also increase adhesion molecules
2. T lymphocytes migrate into the tissue and express cytokines that further activate fibroblasts
3. dermal fibroblasts produce collagen
overall thickening of the skin
194
psoriasis pathogenesis
dendritic cells recurit T helper cells which produce inflammatory cytokines and stimulate keratinocyte proliferation and neutrophilic infiltration
195
the increased incidence. ofmucormycosis in diabetes mellitus is due to?
ketone reductase activity of rhizopus allowing it to thrive in ketoacidotic environments
196
how do you diagnose mucormycosis caused by mucor or rhizopus (ascends from nasal passage-black eschar)
mucosal biopsy
ribbon liked, broad non septate hyphae with right angle branching)
## Footnote
Facial pain, headache, and a black necrotic eschar in the nasal cavity of a patient with diabetic ketoacidosis are highly suggestive of mucormycosis. Histologic examination of the affected tissue is necessary to confirm the diagnosis. The fungi show broad nonseptate hyphae with right-angle branching. Treatment consists of surgical debridement and antifungal therapy.
197
tonic clonic seizures
generalized seizure that has a loss of consciousness and post ictal state with deiffuce contraction (tonic) and jerking (clonic)
198
myclonic seizures
generalized seizure with no LOC or postictal state
brief jerking movements that usually occur within the first hour of waking up or provoked by sleep deprivaiton
199
atonic seizure
sudden loss of muscle control and drop to the floor
200
absence seizure and treatment
brief staring episodes with automatisms and no post ictal state
treat: ethosuximide
201
generalized onset seizures are treatment with
borad spectrum anticonvulsants like valproic acid or levetiracetam
202
focal seizures (aware and impaired awareness) are treated with?
narrow spectrum anticonvulsants like phenytoin, carbamazepine, gabapentin
or borad spectrum anticonvulsants as well
## Footnote
focal seizures
203
Oocyte fertilization begins within the _ of the fallopian tubes and initiates completion of the _ _ division and zygote formation
ampulla
second mieotic
204
the zygote travels through the fallopian tube undergoing multiple mitotic divisons and creating a smaller collection of cells called a _
morula
205
about 3-4 days following fertilization the morula enters the uterine cavity and forms its own central cavity converting it into. a_
blastocyst
206
cellular differentiation within the blastocyst forms an inner cell mass _ and an outer later of _
embryoblast
trophoblast
207
the trophoblast has 2 different cell population -
cytotrophoblasts
and syncytiotrophoblasts (differentiated) that invades the endometrium
208
following invasion the _ begin to secrete B-Hcg and other hormones into the maternal circulation
syncytiotrophoblasts
209
cytotrophoblasts secrete _ which promotes villous invasion in early pregnancy
hyperglycosylated bHCG different from HCG
210
what is the treatment of choice for trigeminal neuralgia
carbamazepine
211
MOA of carbamezapine
inhiits neuronal high frequency firing by reducing the ability of sodium channels to recover from inactivation
## Footnote
just like phenytoin
212
side effects of carbamazepine
aplastic anemia
- monitor CBC
213
GnRH is secreted from
the hypothalamus
214
_ from the pituitary stimultes the _ cell to secrete tesosterone
LH
leydig
215
testosterone negative influences what
LH and GnRH
216
sertoli cells secrete
inhibin B
217
inhibin B negatively influences what
FSH
218
_ from the pituitary stimulates _ cells to produce androgen binding protein
FSH
sertoli
219
what does androgen binding protein do
concentrates testosterone in the seminiferous tubules and facilitates spermatogenesis
220
following unilateral orchiectomy there. is an initial drop in _ that stimulates the pituitary to secrete _ leading. tocompensatory production
testosterone
LH (leydig cell hyperplasia)
221
what are the fiding after a unilateral orichectomy
normal libido and decreased spermatogenesis (due to the loss of a seminiferous tubule)
222
bilateral testicular damage leads. to
azoospermia
223
beer is particularly likely to cause gout as it contains high amounts of
absorbale purines that are metabolized to uric acid
224
risk factors for increased uric acid production
purine rich foods, increases cell turnover, frustcose containg food, lesch nyhan syndrome, phophoribosyl phyrophosphate activity
225
risk factors for decreased uric acid clearance
CKD, volume depletopn, diuretics, cyclocporine. and tacrolimus
226
what form of bacterial menigitis benefits from glucoroticoid treatment to reduce inglammation
strep penumococcal meningitis
227
the _ nerve supplies motor innervation to the diaphrgam
phrenic nerve
228
the phrenic nerve is alsmost always transiently affected by
an interscalene block
229
what are the attachment points of the diaphragm
anteriorly: xiphoid process of the sternum
lateral: ribs 6-12
posterior L1-L3 vertebral bodies
230
the diaphragm moves _ during inhalation
down
231
unilateral paralysis of the diaphragm causes an elevation of the _ side
affected
(decreased forced vital capacity)
232
fever, jaw pain, swelling og the pre/postauricular area on the right side extending to the angle of the manible
acute suppurative parotitis
233
suppurative parotitis can present with elevated
amylase
234
what bacteria causes parotitis
staph aureus
235
risk factors of parotitis
dehydration, intubation, decreased salivary flow (anticholinergics), stone, intense teeth cleaning
236
what is alkaline phophatase and where is it found
an enzyme that hydrolyses and removes phosphate from other compounds
it is found in bone, liver, bile ducts and placenta
237
GGT (gamma-glutamyl transpeptidase) function
helps convert glutathione to glutamate
(liver)
238
the greater trochanter serves as an insertion site for _ which origitates from the _
gluteus medius
ilium
239
main actions of the gluetus medius
hip abduction and stabilizationof the pelvis during ambulation
240
damage to the point of inerstion of the greater trochanter can result in
weakness on abduction, lateral hip pain, and gait instability with a positive trendelenburg sign
## Footnote
A 73-year-old woman is brought to the emergency department due to right hip pain. The patient was getting out of the shower when she slipped and fell directly on her right hip. She now has pain and swelling over the lateral aspect of her hip and cannot walk without assistance. Vital signs are within normal limits. Bilateral pedal pulses are normal, and sensation is intact. X-ray of the right hip is shown below.
241
methtrexate inhibits _ and allows for the accumulatino of
dihydrofolate reductase
increases in folic acid polygutamate, and Dihydrofolate polyglutamate
(they undergo polyglutamation to prevent them from leaving the cell)
242
what drug resuces normal cells by competeing with MTX for DHF reductase binding sites, reactivating DHF reductase and allowing reentry of DNA synthesis
folinic acid
