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Uworld self assessment 1 and 2
Terms in this set (273)
Acute respiratory distress syndrome - x ray
X ray - look for DIFFUSE symmetric pulmonary opacities. "white out"
Caused by injury to the
endothelial cells lining the pulmonary capillaries adjacent to the alveoli
due to cytokines and neutrophils. Damage to the endothelial cells allows fluid to enter the alveoli leading to respiratory compromise during the initial exudative stage. This is followed by proliferative stage where pulmonary edema resolves and there is proliferation of type II pneumocytes. There can be a fibrotic stage in where there is diffuse pulmonary fibrosis and cyst formation.
ARDS clinical findings
tachypnea, respiratory alkalosis, and hypoxia are early clinical findings, elevated A-a gradient.
what is the reason that the action potential is delayed at the AV node?
allow ventricular filling during diastole.
Fastest to slowest conduction through heart
Park At Ventura Avenue = Perkinje fibers, Atrial fibers, Ventricular fibers, AV node.
*reason perkinje fibers are fastest = rapid transmission is essential to ensure contraction of ventricles rom apex of heart toward the base. This allows blood to propel upwards towards pulmonary artery and aorta.
where is the location of AV node?
Interarterial septum near the right AV orifice
Page'ts disease of bone (osteitis deformans) - EPI
occurs in men > 50 yrs
associated with paramyxovirus infection of osteoclasts
targets: pelvis, skull, and femur
Pagets bone - pathogenesis
Mutation in RANK signaling, early phase of osteoclastic resorption of bone causing shaggy appearing lytic lesions. Late phase of increased osteoblastic bone formation --> markedly increased serum alkaline phosphatase (ALP) (increased osteoblast activity) and production of THICK but WEAKENED BONE.
Clinical findings of Pagets
bone pain, and facial bone coarsening (producing lion-like facies)
headaches and hearing loss (note that this can also occur with osteopetrosis)
look for clinical hint = increase in hat size
what are some complications of pagets disease of bone?
1. pathological fractures of hip, femur, skull
2. RISK FOR OSTEOSARCOMA
risk for developing HIGH-OUTPUT-HEART FAILURE
(due to arteriovenous connections in vascular bone)
Labs paget's disease of bone
serum alkaline phosphatase is increased but serum calcium and phosphate are normal.
treatment of paget's bone
bisphosphonates and calcitonin
Osteogenic sarcoma - epi
males 10-25 years, however if seen in older patient then typically secondary to paget's disease of the bone.
Osteosarcoma - location
metaphysis of distal femur and proximal tibia. Most common primary bone cacner.
Characteristics of osteosarcoma
radiographic findings = "sunburst" appearance = spiculated pattern from calcified malignant osteoid) and "codman triangle" tumor that results in lifting of the periosteum (seen in adjacent soft tissue). Commonly metastizes to the lung (sarcoma --> hematogenous).
A 32 yr old female complains of a lump in her throat. Hx significant for migraines. No abnormalities on barium swallow. Whats diagnosis?
Globus hystericus --> also called globus sensation or lump in the throat is a common occurrence in up to 45% of general population. Emotions commonly trigger globus hystericus.
When to consider globus hystericus
if physical examination, endoscopy or barium swallow is negative and patient presents with feeling of lump in throat then consider this as a diagnosis.
Gout - interesting fact
Gout under polarized light is negatively birefringent and composed of uric acid. Now, under normal situations without any pathological event - urate crystals are protected from recognition by IgG via a protective layer on urate crystal. Apo E or Apo B coat urate crystals and prevent IgG recognition, however in times of fluctuating uric acid levels of trauma, "bare" urate crystals are made and thus can be recognized by circulating IgG antibodies. Once these IgG's bind, the Fc portion will bind to Cd16 on neutrophils thus initiating a inflammatory cascade which results in symptoms of gout.
Sensitive indicator of apoptosis. Laddering occurs during karyorrhexis when endonucleases break up DNA resulting in intervals of 180 base pairs.
Benzodiazepine - A/E
, impairment of consciousness, orientation, thought, and attention, paradoxical agitation/aggression,
, psychomotor retardation, ataxia, weakness, vertigo, and syncope.
falls and traumatic injuries are serious risks.
If toxic levels reached can precipitate respiratory depression and coma. Just remember that alcohol and barbituates have a greater chance to produce toxicity.
Metabolism of some benzodiazepines
-Hepatic oxidative reduction = diazepam and midazolam
-Hepatic glucoronide conjugation = lorazepam, oxazepam, temazepam
these enzymes are metabolized directly and do not undergo any metabolism with CYP450 enzymes
Benzodiazepines effect on seizures
Raise the threshold for seizure's thus can be used in status epilepticus for anticonvulsant properties. Note that
diazepam withdrawal in an epileptic patient can provoke a seizure.
Cells in the body contain different genes, occurs when the GERM cells contain a different genetic makeup than somatic cells. CONSIDER when there is a mutation present in the offspring but not present in the parents or grandparents.
a 30 yrs old female has two kids with
. She and her husband are free of symptoms and have unremarkable family histories. Whats the reason?
Germline mosaicism --> DEFINED as the presence of two or more genetically different cell lines within the body. Mosaicism results from a mutation early on in mitosis --> the earlier the mutation, the more daughter cells that will be affected. Mosaicism can be germline, somatic or both, however note that if its somatic moscaism then the mutations WILL NOT BE PASSED TO OFFSPRING.
what cytokine is produced exclusively by lymphocytes?
IL-2 (other choices were IL-1, TNFa, IFNa, GMCSF)
IL-2 is produced exclusively by Th1 cells. IL-2 will stimulate the growth and differentiation of
T cells, B cells, NK cells and macrophages
. When IL-2 binds to T cell IL-2 receptors in an autocrine fashion the stimulated T cells proliferate. *if Il-2 is present for a long period, it can promote Fas-mediated apoptosis (CD95 --> extrinsic apoptosis)
IL-1 produced by
TNFa produced by
IFNa is produced by
monocytes, macrophages, B cells, and NK cells.
GMCSF is produced by
macrophages, T cells, NK cells, mast cells, endothelial cells, and fibroblasts
A researcher treats an epithelial cell line with substance X which lyses intercellular adhesions but leaves cell adhesions to the basement membrane intact. Removing calcium from the cells environment causes the same effect. Substance X most likely effects which of following? (another way this question can be phrased is --> what intercellular junction requires calcium?
Cadherins, previously known as "calcium dependent adhesion proteins" subclassed into zonula adherins and desmosomes.
What are cadherins?
calcium dependent adhesion proteins that help muscle and epithelial cells stay bound together. They are transmembrane proteins that bind within the cytoplasm to intermediate filaments like keratin. Extracellularly, bind to other cadherins forming desomosomes and adherens junctions.
All interactions are calcium dependent, thus removing calcium will cause dissociated of cadherin mediated junctions = loss of cell adhesion
Integrins - role
bind to ECM proteins such as fibronectin and laminin providing a connection between cells and ECM.
Fibronectin - role
binds to many molecules such as collagen, fibrin, and proteoglycans. Important --> fibronectin messenger RNA has two splice forms giving rise to tissue fibronectin and plasma fibronectin.
What is the role of plasma fibronectin
binds to fibrin, thus helping to stabilize blood clot and serves as a scaffold for ECM deposition and formation of matrix tissue during wound healing.
what artery is of primary concern with both a posterior and anterior dislocation of the knee joint?
Q: hockey player sustains a blow to right knee and is brought to ER - posterior displacement of tibia relative to femur.
Popliteal artery - it is rigidly fixed proximal and distal to the knee joint by the adductor magnus and soleus muslces, respectively --> making it highly susceptible to tearing by traction forces. Popliteal A. more commonly injured than Popliteal V. because the artery is 1) deeper within popliteal fossa and 2) is tightly fixed within the fossa. Note that tibial nerve also passes through popliteal fossa but it is not subject to same traction forces as popliteal artery.
What is a cause of foul vaginal discharge and tender uterus following a pregnancy.
This patient has endometritis most likely due to bacteroides species - seen in both vaginal and cesarian sections. Chlamydia can also cause this however it is extremely rare compared to bacteroides following a pregnancy. This is the only time when we find a vaginal pathology due to bacteroides and not chalmydia, neisseria, gardenella ect.
Reflection --> physician repeats what he has just been told.
Summarizing --> physician encapsulates several ideas into one or two statements
Empathy --> expression of vicarious understanding of patients feelings and emotions "I can understand how difficult it must have been for you to face all those stressors..."
Support --> expression of concern for patients experiences and well being. "this sounds like it has been very hard for you..."
Confrontation --> draw patients attention to discrepancies in his/her statements.
Facilitation --> encourage the patient to talk more about his/her experience.
help physician establish rapport with the patient
Heminephrectomy results in compensatory hyperfiltartion and hypertrophy of the nephrons in the remaining kidney. What is the GFR immediately after the surgery and 6 weeks later?
immediately = 50%
6 weeks = 80% --> will not reach 100% because comparative number of nephrons will not be replenished or equal to what the patient once had.
Viagra (sildenafil) a PDE 5 inhibitor - action
promotimes erection through relaxation of venous smooth muscle within
occurs when more than two complete sets of homologous chromosomes exist within an organism or cell. Ex. hydatiform mole
loss of heterogeneity/zygosity
2nd hit is LOH - part of Knudsen two hit hypothesis.
what are lab values in diabetic ketoacidosis?
will find metabolic acidosis, ketonemia, ketonuria, hyperglycemia, glycosuria, hyponatremia, hypovolemia, and kyperkalemia. The serum sodium is decreased in DKA because of the osmotic activity of glucose (as glucose increases - serum sodium decreases).
Perivascular inflammation with plasma cells --> Syphilitic chancres occur in the primary stage of syphilis and are characterized by lymphoplasmacytic infiltrates and by an obliterative endarteritis (small /medium vessels). Similar lesions also may appear with secondary syphilitic mucocutaneous lesions.
Reason its painless is due to syphillitic infiltration of arteries and nerves --> can also infect vaso vasorum of aorta.
What is palmitolyation?
process in which fatty acids are covalently anchored to plasma membrane cysteine residues, thereby increasing the hydrophobicity of a protein. Many G protein coupled receptors have carboxyl tails palmitoylated on cysteine residues.
CFTR channel varies in function from tissue to tissue - displays tissue specific function
in sweat glands = reabsorbs luminal chloride ions and enhances sodium reabsorption --> mutated CFTR in contrants diminishes sodium chloride reabsorption and increases sweat tonicity.
in respiratory and intestinal epithelium = normal CFTR allows for active luminal chloride secretion --> mutated CFTR in contrast reduces luminal chloride secretion and increases luminal sodium absorption. thus in sweat glands will find increased sodium and chloride whereas in bronchial and luminal secretion will find decreased sodium and chloride.
a young male has short stautre, short fingers, and a round face --> serum calcium level is low and his PTH is high. Whats the cause?
albright hereditary osteodystrophy
Albright hereditary osteodystrophy - clinical findings
pseudohypoparathyroidism, short stature, short 4th and 5th metacarpals.
end organ resistance to PTH
also resistant to TSH and LH/FSH (infertility). PTH resistance manifests with hypocalcemia, hyperphosphatemia and elevated PTH.
different mutations in the same genetic locus cause similar phenotype (ex. duchenne muscular dystrophy and becker's muscular dystrophy - DMD is a frameshift and beckers is a missense - however both are mutations in dystrophin gene.
genetic (locus) heterogeneity
mutations at different loci (genes) cause similar phenotypes (example is osteogenesis imperfecta - mutations in either chromosome 17 or 7 results in phenoytpe of OI)
hemochromatosis - clinical findings (AR)
fatigability, dry mouth, impotence,
and atrophic testes. Blood glucose elevated. Urine will be positive for glucose. Bronze "tan" skin - due to dermal hemosiderin deposition.
-Diabetes present secondary to pancreatic islet cell destruction via iron deposition
-atrophic testes are due to iron deposition in pituitary thus decreasing levels of FSH and LH.
-pts can also have cardiac enlargement
lab values in hemochromatosis
elevated plasma iron
>50% saturation of transferrin and elevated serum ferritin
a test is designed for diagnosing a viral infection. The test used the viral antigen attached to wells along with a chromogen for a peroxidase enzyme. What else should be added to make the test complete?
anti human immunoglobuline - this is an indirect ELISA - and we know that because ta viral antigen is being used - thus we are looking to identify whether the patient has serum antibodies.
Steps of indirect ELISA
1. Known antigen is fixed to a well
2. patients serum is added --> if present then specific antigen antibodies bind and remain fixed to the well. The plate is then washed to remove unbound patient antibodies.
3. *anti-human immunoglobulin antibody coupled to a substrate modifying enzyme ("enzyme linked") is added. This antibody binds to antigen bound antibodies in the wells. The plate is again washed.
4. A substrate or chromogen is added which is modified by the enzyme to elicit a detectable signal.
Achondroplasia - clinical features
chromosome 4, point mutation (substitution of Arginine for glycine of fibroblast growth factor receptor 3 (FGFR3). Mutation causes a defect in paracrine signaling that leads to increased function of
FGFR3 which is responsible for inhibition of cartilage proliferation
.pts present with restricted chondrocyte proliferation, decreased endochondral ossification and reduced cellular hypertrophy. Will also find shortened extremities and frontal bossing.
summary of achondroplasia
patients have a mutation on chromosome 4 that results in defective Fibroblast growth factor 3 which inhibits collagen type 2 (cartilage) proliferation. This results in short stature, frontal bossing, and shortened extremities.
Ribosomes facilitate the translation of mRNA into protein. This process begins in the cytosol when mRNA binds to a ribosome (in eukaryotic remember that the 18s of 40s binds to 7methylguanosine cap) and initiates translation. Proteins destined for the endoplasmic reticulum (rough) possess N-terminal peptide signaling sequences that identify them as such, once these N-terminal sequences are translated they are immediately recognized by signal recognition particles (SRPs) which
translation and target the ribosome to protein pores in the RER. Once the ribosome is bound to the RER, the signal peptidase cleaves the signal peptide region from the elongating polypeptide within the RER. Within the RER proteins undergo folding, glycosylation (w/ Asparginine) and coupling with other subunits required for function. Note that the Signal sequences (N-terminal peptide once translated) are composed fo 15 to 20 amino acids (MOST OF WHICH ARE HYDROPHOBIC).
pt presents at 5 months with coarse facial features, gingival hyperplasia, macroglossia, hepatosplenomegaly, joint immobility, clubfoot, scoliosis, growth and mental retardation, bone fractures and deformitis, mitral valve defect - what will this patient most likely die of?
I cell disease
This infant has Menkes disease, which is also known as Ehlers-Danlos syndrome type IX (kinky hair syndrome). It is an X-linked recessive disease that has an incidence of 1/100,000 newborns. Common with Ehlers-Danlos diseases, Menkes
disease has a symptomology due, in part, to weak collagen. The disease is caused by mutations in the gene ATP7A, which encodes an ATPdependent
copper efflux protein in the intestine. Copper can be absorbed into the mucosal cell, but it cannot be transported into the bloodstream. Consequently,
an affected individual will have severe copper deficiency and all copper-requiring enzymes will be adversely affected. Lysyl oxidase requires copper and plays a direct role in collagen formation by catalyzing the cross-linking of collagen fibrils.
A deficiency in the activity of this enzyme and other copper-dependent enzymes would be directly responsible for the described symptoms in this infant
patient presents with normal 2nd sex characteristics and normal blood testosterone levels, but testosterone concentration in his seminiferous tubules and epididymis is abnormally low. What is the causes of this specifically? (we know its sertoli cells - but what is problem)
Androgen binding protein - maintain high levels of testosterone within seminiferous tubules. - if deficient, spermatogenesis will not occur bc testosterone levels will be insufficient.
patient develops pulmonary embolism - what is pH, PaC02, and Pa02
pH >7.4 (respiratory alkalosis), PaC02 = <40 (due to hyperventilation), and Pa02 around 70mmHg
Growth factors (PDGF, EGF, VEGF) use what receptor
intrinsic tyrosine kinases - just like insulin
Prolactin, Interleukins (cytokines) and Growth Hormone use what receptor?
tyrosine kinase --> activates JAK/STAT pathway
Platelet activating factor - uses what secondary messenger system
will induce platelet aggregation, vasoconstriction, and bronchoconstriction
a 12 yr old female is found to have multiple brownish spots on her body during physical exam. Number has recently increased. She also has two soft flesh colored non tender papules on upper chest that she describes as acne. whats diagnosis
Von Reckinghausen disease - AD (this is NF1 - chromosome 17) - diagnosis requires 2 or more of following --> cafe au lait spots, intertriginous freckling, two or more cutaneous neurofibromas (flesh colored benign growths of schwann cells), optic nerve glioma, bony lesions, iris LISH NODULES
female pt presents with heavy menses and passing occasional clots. She also complains of heaviness and a palpable mass in the lower abdomen.
Leiomyoma --> uterine Fibroids --> differ from endometriosis (will have NORMAL SIZED UTERUS) whereas with leiomyoma UTERUS will be enlarged.
what is the most common tumor in females
leiomyoma --> presents with multiple discrete tumors, increase incidence in black women. Benign smooth muscle tumor --> malignant transformtaion is RARE and does not progress to leiomyosarcoma. Look for a whorled pattern of smooth muscle bundles with well demarcated borders. Causes abnormal uterine bleeding (heavy during periods because responds to estrogen and will decrease in size with menopause). can lead to iron deficiency anemia.
if a young patient presents with fasting hypoglycemia and low blood ketones - look for pathology of beta oxidation or ketone synthesis - whats the most likely cause
medium chain acyl CoA dehydrogenase deficiency -->presents with symptoms of nausea, vomiting, and hypoglycemia.
perineal abscess = perianal abscess - what is clinical presentation in patient with crohns
chronic diarrhea, transmural inflammation, noncaseating granulomatous rxn, most commonly effects terminal ileum (but can be seen throughout WHOLE GI mouth to anus). Aphthous ulcers is early sign (in mouth or bowel) look for skip lesions and fistulas and deep ulcers = cobblestone appearance. Look for creeping fat around serosa. Extragastrointestinal signs are erythema nodosum, sacroilitis (HLAb27 positive), pyoderma gangrenosum, and iritis. On radiography will find string sign = terminal ileum narrowing by inflammation. Complications = perineal abscess and fistulas, calcium oxolate renal stones, megaloblastic anemia due to decrease b12 absorption.
-symptoms of malabsorption of fat soluble vitamins A, D, E, K --> thus increased bleeding due to lack of gamma carboxylation of factors 2, 7, 9, 10 (vitamin K). Night blindness (vitamin A), increase bone fragility (rare d/t fact pts still receiving sunlight (UVB) converts 7dehydrocholesterol to pre-vitamin D3 (cholecalciferol). Hemolytic anemia or sx of subacute combined degen.
Warfarin with a cyp 450 inhibitor
warfarins effects are increased due to decreased metabolism --> remember that warfarin is mainly metabolized by CYP 2C9 rendering the drug inactive --> if an inhibitor is given then the metabolism is delayed and the drug will be active for a longer period of time. Thus look for an increase in PT (factor 7). Adversely, if a CYP 450 inducer is given then warfarin will have LESS effects due to rapid metabolism (inactivation) and the PT will decrease (less anticoagulant effects).
what are the signs of peripheral arterial disease?
1. claudication with rest
2. loss of hair on extremities
3. thickened toenails
4. cold to touch
5. shiny color to skin
radiograph --> barium swallow --> look for birds beak sign
pathogenesis --> due to reduced number of inhibitory ganglion cells thus favoring contraction of LES.
clinical signs --> dysphagia with solids and liquids, chest pain, weight loss
Anesthetics - order of nerve blockade
Type B and Type C > Type Ad > Type Ab and Agamma > Type Aa
order of loss = 1. pain 2. temperature 3. touch 4. pressure (pacinian corpuscle - actually transmitted on large myelinated fibers - type A)
Type B fibers
small myelinated fibers
Type C fibers
dull, burning pain
Type Ad fibers
clinical signs of iron deficiency anemia
typical symptoms + glossal pain, atrophy of tongue papillae, alopecia, and pagophagia (craving for ice).
lichen sclerosis et atrophicus
inflammatory condition - autoimmune - antibodies against extracellular matrix. Affects males and females equally - but female genital and perineal region is most commonly affected.
what are the clinical signs of lichen sclerosis et atrophicus?
pruritis, dysuria, pain with defecation and dyspareunia. lesions being as white atrophic macules that develop into papules.
what are long term sequelae of lichen sclerosis?
squamous cell carcinoma and genital disfigurement. Tx with corticosteroids.
pathological features of acute tubular necrosis
ATN - stage 1
ischemic injury to renal tubules - precipitated by hemorrhage, acute MI, sepsis, surgery
ATN - stage 2
maintenance stage - oliguric stage --> last 1-3wks
will find decreased urine output, fluid overload (weight gain and pulmonary vascular congestion) increasing BUN/Cr, hyperkalemia (peaked T waves, wide QRS, fatal arrhythmias) metabolic acidosis (high anion gap, due to retention of hydrogen ions and anions = sulfate, phosphate, and urate). will also see hyponatremia, hypocalcemia, hyperphosphatemia, and hypermagnesium
characteristic muddy brown casts
low urine osmolarity <350, high urine sodium >30 and high urinary fractional sodium excretion FeNa>1)
what are the electrolyte abnormalities in ATN stage 2
hyperkalemia, metabolic acidosis, hyponatremia, hypocalcemia, hyperphosphatemia, hypermagnesium
Stage 3 ATN
gradual increase in urine output leading to high volume diuresis. Will find decreased EVERYTHING = most serious complication is HYPOkalemia
What are potassium levels in stage 2 and stage 3?
in stage 2 = hyperkalemia
in stage 3 = hypokalemia
ATN - ischemia
classic pathology include:
1. detachment of tubular cells from BM
2. muddy brown casts occlude tubular lumen - composed of epithelial cells, proteins
3. cellular necrosis is LIMITED to OUTER MEDULLARY REGIONS because the renal medulla is susceptible to ischemic injury (low medullary blood flow).
Atrial septal defect
Wide fixed splitting of S2
-hard to develop audible murmur because blood flow across the ASD is low velocity and minimally turbulent. however, ASD is associated with other murmurs --> midsystolic pulmonary flow or ejection murmur (secondary to increased flow across the pulmonic valve) a diastolic rumble (secondary to increased flow across tricuspid valve) and a low pitched diastolic murmur (secondary to pulmonary regurgitation).
duchenne muscular dystrophy is what kind of inheritance
X linked rececessive
a researcher is studying macrophage antigen presentation to CD4 T lymphocytes. Which of the following HLA class II components is digested by macrophages during antigen processing.
invariant chain --> MHC class II are on APCs. Each class II is a
composed of a alpha chain and a beta chain. During antigen processing, the
brings the alpha and beta chains together to form a stable complex in the RER. The MHC-invariant complex then leaves the RER passes through the golgi body and enters an endocytic compartment in which the invariant chain is
and external protein (antigen) is inserted between the alpha and beta chains. Travels to surface for presentation to T cells.
b2 microglobulin - Antigen presentation - part of MHC class 1 domain. Alpha 1, 2, and 3 + b2 microglobulin.
once inside the ER, the peptides assemble with transmembrane polypeptide and b2 microglobulin.
causes of prader willi (2 causes)
1. Most common = paternal microdeletion of chrom 15q11 - child will inherit maternal gene with imprinted PW gene - thus expression of maternal UBE3. WILL BE DETECTED ON FISH.
2. Maternal disomy - will have NORMAL FISH
Angelman's syndrome (2 causes)
1. Maternal microdeletion of 15q11 - child will inherit paternal gene with imprinted angelman gene thus expression of paternal SNRP.
2. Paternal disomy
cardiac myocytes are terminally differentiated and thus CAN NO LONGER DIVIDE. Thus, chronic intensification of the hearts mechanical load results in increased dimension and mass of the individual cardiomyocyte (hypertrophy). The hypertrophic state is established through increases in the rate of protein synthesis, the quantity of protein, and the quantity of sarcomeres and mitochondria within each cardiomyocyte. Gene expression is altered with the genes responsible for
fetal cardiac development upregulated
. As heart makes larger quantities of growth factors ->
myosin mRNA is synthesized at a faster rate
what epidermal layer is thickened in a callus.
the stratum corneum is generally thickened in areas of the body commonly exposed to friction or trauma (soles of feet). A painless thickening of the stratum corneum "callus" may occur at locations of repeated external pressure or friction. Note that stratum corneum is composed of 20 layers of dead epithelial cells.
PCOD (stein-leventhal disease)
Increased LH: FSH ratio --> LH increases and FSH decreases. Will find elevated levels of androstenedione and testosterone.
clinical findings of PCOD
-bilateral enlargement and smooth thickened capsules
-subcapsular follicles in different stages of atresia
-hyperplastic theca stromal cells rim the arrested follicles.
-anovulation, oligomenorrhea --> amenorrhea, hirsutism, obesity, infertility and dylipidemia
-type 2 diabetes
-increased risk for endometrial adenocarcinoma
stimulate growth and differentiation of various cell lines usually by regulating synthesis of transcription factors Ex. GM CSF and PDGF
Growth factor receptors
transduce signals delivered by corresponding growth factors but DO NOT DIRECTLY regulate progenitor cell differentiation.
determines cellular differentiation ex. differentiates progenitor cell into a dermal cell.
all nucleate cells in human body possess the entire genome; transcription factors specific for each individual tissue allow only those genes relevant to a cells specific type and function to be expressed.
whats increased in a patient with autoimmune gastritis
Gastrin - reason being that antibodies against parietal cells are destroying fundus of stomach - patient will develop hypochlorhydia and decreased levels of intrinsic factor thus precipitating megaloblastic anemia and atrophic glossitis and possibly subacute combined degeneration, now gastrin will be elevated to try and compensate for the loss of parietal cell mass.
scrotal mass that is palpable when patient stands but disappears when patient lies down. Transillumination is negative
what is a varicocele
dilation of spermatic vein in pampiniform plexus that develop in left scrotum in 15-20% of adult males. Tend to be due to increased left renal vein pressure.
whats deficiency and accumulated substrate in tay sachs
accumulate GM2 gangliosided
def. is hexominidase A
whats deficiency and accumulated substrate in fabrys
def of a galactosidase
accumulated substrate = ceramide trihexoside (glycosphingolipid)
what is def and accumulated substrate in gaucher
def of glucocerebrosidase
accumulation of glucocerebroside
whats def and accumulated substrate in niemann pick
def in sphingomyelinase
accumulated substrate = sphingomyelin
whats accumulated substrate and def in krabbe
accumulated substrate = galactocerebroside, psychosine
def enzyme = galactocerebroside
whats accumulated substrate and def. enzyme in metachromatic leukodystrophy
def. enzyme = aryslsulfatase A
accumulated substrate = cerebroside sulfate
highly conserved set of genes - code for TRANSCRIPTION FACTORS (determine differentiation of progenitor cells) known as homeodomain proteins. These homeodomain proteins modulate expression of other genes in the cell.
homeobox gene that is mutated in hand-foot-genital syndrome = characterized by clinodactyly, shortened thumbs, small feet, short great toes and urinary tract abrnormalities. Genitourinary abnormalities include duplications of reproductive tract in women and hypospadias in men.
Pax 3 mutation
Waardenburg syndrome = dystopia canthorum (lateral displacement of the inner corner of the eye) pigmentary abnormalities (frontal white blaze of hair, patchy hypopigmentation of skin, heterochromia irides), congenital deafness, limb abnormalities.
what happens in cooling stage of PCR
its not double strand DNA reannealing - its primers that were added (dNTP's) that bind to single strand of DNA (forming hydrogen bonds). Reason being because excess DNA primers are present in the reaction mixture thus have a greater chance to re-anneal with ssDNA.
AD disorder chrom 19
defective LDL receptor
Type 1 hypercholesterolemia
AR, childhood disease
deficiency in ApoCII or LPL
presents with acute pancreatitis (chylomicrons blocks the circulation and cause rupture of pancreatic vessels
Type II hypercholesterolemia
difference between type IIa and IIb = IIb has an increase in TAGs wherease type IIa does not
Type IIa hypercholestrolemia
increase in cholesterol, LDL
familial hypercholesterolemia and polygenic hypercholesterolemia
heparin effect on LPL
induces the release of lipoprotein lipase
what are three causes of ACQUIRED type II hyperlipoproteinemia
1. primary hypothyroidism - decreased synthesis of LDL receptors
2. blockage of bile flow
3. nephrotic syndrome
Familial hypercholesterolemia (type IIa)
def of LDL receptors
Xanthoma (cholesterol) - achilles, dorsum hand, patellar tendon
Premature coronary artery disease
Labs: increase in cholesterol, LDL, not tag's remember thats type IIb.
familial combined hypercholesterolemia (type IIb)
occurs around puberty
associated with metabolic syndrome X
elevated cholesterol, LDL, AND TAGs
Familial dysbetalipoproteinemia (type III)
deficiency of ApoE (required for uptake of IDL and Chylomicrons) - chromosome 19
Palmar xanothams in flexor crease
increase risk of coronary atherosclerosis and peripheral vascular disease
increased cholesterol and TAGs, NO increase in LDL
Roles of ApoE
uptake cholesterol into neurons
made my macrophages
lipid antigen presentation (cd1 is marker - and is mediated by Natural killer T CELLS - not to be confused with NK cells).
uptake of IDL and Chylomicrons
Type IV acquired - causes
-excess alcohol intake - MC cause = increased production of VLDL and decreased activity of LPL
-OCPs - estrogen increases synthesis of VLDL
-Diabetes mellitus - decreased adipose and muscle LPL - decreased effect of insulin renders less LPL
-Chronic renal failure - increased synthesis of VLDL
-Drugs = thiazides, beta blockers - inhibit LPL
Familial type IV
Increased production of VLDL
decreased clearance of VLDL
increase risk for CAD and peripheral vascular disease
increase TAG and moderately increased cholesterol, and increase VLDL
looks like chronic renal failure
two types adenocarcinoma stomach slide 444 goljan.
signet ring type = Diffuse type, infiltrate large areas of stomach wall causing leather bottle stomach (linitis plastica) - loss of E-cadherin, spread is hematogenous,
NOT ASSOCIATED WITH H.PYLORI
Autosomal dominant E cadherin mutation.
intestinal type = resemble colon cancer, grow as nodular polypoid, well demarcated masses with well
that consist of columnar or cuboidal cells. associated with nitrosamine (smoked cooked food --> highly present in Japan) -
ASSOCIATED WITH H.PYLORI
and menetieres disease.
H. Pylori adheres to what cells in GI
adheres to foveolar cells (note that the foveolar cells increase in menetieres)
Peutz Jeghers poyposis
hamartomatous polyps predominant in small bowel
mucosal pigmentation and buccal mucosa,
increased risk for cancers - colorectal, breast, gynecologic cancers
is associated with inactivation of
tumor suppressor gene
Differential - addisons (hyperpigmentation of buccal mucosa)
Increased risk for intussusception (causes gastro bleeding)
pathognomonic = hyperpigmentation lips, buccal mucosa, hands, and feet
median age onset is 11 yrs
large pedunculated polyp, arborizing and presence of smooth muscle intermixed with lamina propria
less than 3cm
present in rectum
red lesions with cystic spaces, filled with mucin and inflammatory debris
autosomal dominant hamartomatous polyp syndrome - PTEN mutation (tumor suppressor)
encodes lipid phosphatase that inhibits PI3K pathway
--> in cowden this is defective thus no inhibition of PI3K pathway.
macrocephaly, intestinal hamartomatous polyps, papules, acral keratoses. polyps from all three germ layers (subq lipomas, leiomyomas, hemangiomas)
-increase risk for breast carcinoma, follicular carcinoma of thyroid, and endometrial carcinoma.
difference between lipoma and liposarcoma
liposarcoma are most common soft tissue sarcoma in adults, they present as painful masses and have many round cells with multiple mitosis. Cells have a round clear cytoplasmic vacuoles scalloping the nucleus. Nonmobile.
Lipomas - are mobile subcutaneous nodules, nontender, soft, mature fat cells without pleomorphism
fibroblast based malignancy characterized by anaplastic spindle cells that grow in an organized in herringbone pattern (cross hitch) - marked disarray, pleomorphism, mitotic activity, hemorrhage and necrosis.
benign growths composed of broad fascicles of rounded fibroblasts with abundant cytoplasm and a significant surrounding collagenous matrix that infiltrates adjacent soft tissue.
recurrent oral apthous ulcers
can be due to cross reactive immune response --> from HSV, strep, staph or e.coli
hairy cell leukemia
bulla at dermal epidermal junction
IgG against keratin 5 and 14
origin of bronchogenic carcinoma
Turner syndrome - mode of fertilization
lacks ovaries but has a uterus --> thus in vitro fertilization will work
-main role of progesterone - maintain pregnancy
mutations in beta myosin heavy chain protein
Systolic murmur - similar in appearance to aortic stenosis - radiates to suprasternal notch
haphazard arrangement of myocytes
decreased LV volume
LV outflow obstruction thereby increasing afterload
Role of DNA polymerase I in prokaryotes
functions to excise the RNA primers and replace them with DNA - then DNA ligase subsequently joins the segments of DNA formed by DNA polymerase III to those formed by DNA polymerase I
surface epithelial ovarian tumors
(serous, mucinous, clear, brenner, endometriod)
Elevated beta HCG
multiple pregnancy (down syndrome fetus)
testicular cancer (embryonal carcinoma, teratoma)
Alpha fetoprotein (AFP) marker
Yolk sac tumor
nonseminomatous germ cell tumors
CEA carcinoembryonic antigen
adenocarcinoma of pancreas
surface epithelial cell tumors
germ cell tumor
endodermal sinus tumor
sex cord stromal tumor
two causes of hirsutism
used as a prokinetic agent for gastroparesis (#1 cause is diabetes)
5HT 3 antagonist, 5HT 4 agonist
def of homogenistic acid oxidase (enzyme involved with degradation pathway of phe and tyrosine)
homogenistic acid --> reason for dark urine
dark pigment changes (onchronotic pigment) - dark blue/grey discoloration visible on the sclera and ear cartilage "onchronosis" - 3rd and 4th decade
Tissue ischemia - electrolyte changes
tissue ischemia increases the extracellular K concentration via reduced functionality of the membrane Na/K ATPase and subsequent K leakage from affected cells. Ischemia may reduce extracellular Na, Ca, HCO3.
cytoplasmic calcium is a hallmark ischemic injury
Histology - Renal
JGA cells produce Renin
mechanisms of renin release --> decreased tubular NaCl sensed by macula densa, decreased pressure in the afferent arteriole and sympathetic stimulation
Tamm-Horsfall glycoprotein can accumulate in the tubular lumen to form hyaline casts --> secreted from ascending limb of loop of henle.
female athlete triad
osteoporosis (d/t increased cortisol and decreased testosterone)
pathophysiology = hypogonadotropic amenorrhea (decrease GnRH - imbalance between food consumption and energy output leads dysregulation and suppression of GnRH pulsatility)
differ MCAD from von gierke or mcardles
in MCAD will not see elevated ketones wherease in VG and McArdle there will be elevated ketones. furthermore note in mcardles will not have systemic lactic acidosis to significant degree because liver is unaffected.
peaked T waves
slow heart rate
loss of P wave
severe = sine wave pattern which manifests as ventricular fibrillation (peaked T waves fuse with wide QRS)
Pathophysiology of graves opthalmopathy
Anti TSH binds to TSHreceptors on orbit (stimulatory effect)
lymphocytes (T cells) infiltrate the orbital tissues and secrete cytokines that stimulate fibroblasts to secrete increasing amounts of glycoaminoglycan ground substance such as hyaluronic acid. This increased hyaluronic acid draws water into the orbit resulting in extraocular muscle edema.
pinneal gland, midline structure located dorsal to the superior colliculus and between the thalamic bodies. Secretes melatonin in response to darkness or sympathetic stimulation.
patients experience upward gaze palsy, absent pupillary light reflex, failure of convergence and wide based gait
role of superior colliculi =
visual reflex center
role of inferior colliculi = hearing
Will also find compression of EW nucleus - which results in absent pupillary light reflex, movement disorders from occulomotor and trochlear.
what are the clinical presentation of patient with parinaud syndrome
1. upward gaze palsy
2. wide based gait
3. absent pupillary light reflex
4. failure of convergence
where are the stem cells of gastrointestinal tract located?
crypts of lieberkuhn
normal lobular architecture of the liver is replaced with regenerative spherical nodules separated by bridging fibrous septae. These are composed of proliferating hepatocytes.
What are mediators of cirrhosis
-hepatocyte damage - results in proliferation and forms spherical nodules
-stellate cells - will differentiate into myofibroblast upon injury to liver
HBV - liver morphology
councilman bodies - apoptotic bodies
drugs that bind to 23rRNA - inhibits peptidyltransferase
what is the resistance mechanism of bacteria against macrolides
methylation of the 23s rRNA
increased efflux of the drug
production of esterases that hydrolyze drug
acetyltransferase of enzymatic mediators
mechanisms of resistance of aminoglycosides
phosphorylation of hydroxyl group
1. chromosomal mutations that effect DNA gyrase and topoisomerase IV (regulate sister chromatid separation in g2)
2. regulate expression of efflux pumps
Kluver Bucy syndrome
flat affect, inappropriate sexual behavior, hyperphagia
-lesion to amygdala
Cortisol on Growth hormone and Norepinephrine
Thyroid hormone on alpha adrenergic on cardiac muscle
vitamin K analogue
increases CNS serotonin levels
blocks sodium transport alpha glucosidase inhibitor
decreases postprandial glucose levels in type 1 and 2 DM
Drug does not cause weight loss
Metastasis are found in liver from a cancer in rectum - whats venous drainage route
the rectum is supplied by 3 arteries (and veins) - superior rectal (branch of IMA), middle rectal artery (branch of internal iliac artery) and inferior rectal artery (branch of internal pudendal artery)
- route for the metastasis to liver
superior rectal vein drains into PORTAL SYSTEM
and Inferior rectal and middle rectal vein drain to
24 yr old male with fever, malaise, anorexia, bilateral parotid swelling and a swollen tender scrotum. Never received MMR. whats cause of low testosterone?
paramyxovirus (PaRaMyxo = parainfluenza, RSV, Ribavirin as tx, Mumps, and Measles (rubeola))
More severe in adults than children
This patient developed orchitis which is why he is presenting with swollen tender scrotum
Leydig cell atrophy (results in decreased testosterone)
androgen that suppresses FSH and LH
used in endometriosis, hemophilia, immune thrombocytopenic purpura
antiandrogen inhibits uptake or binding of androgen in tissue ---> used leuprolide
Swayback's disease - lumbar lordosis
Anterior pelvic tilting secondary to excessive contracture of hip flexors (iliacus and psoas major)
Pain with movement
etiology = obesity, pregnancy, osteoporosis, discitis, kyphosis, spondylolisthesis, and achondroplasia)
trauma to gluteal nerves
slow walking speed
muscles = gluteus medius, gluteus maximus
Piriformis muscle - anatomy
landmark muscle in the gluteal region. On the superior edge of the muscle is the location of the superior gluteal vessels. On the inferior aspect of the muscle is the location of the inferior gluteal (a+v) internal pudendal vessels (A+V), sciatic nerve, nerve to obturator internus and pudendal nerve.
Teratogen (fetal renal malformations, and bone)
Hyperkalemia (decrease effectiveness of Digoxin)
appearance of band across the central cornea formed by precipitation of calcium salts on the corneal surface directly under epithelium.
associated with states of hypercalcemia.
hypercalcemia (bones, stones, groans, and psychic overtones)
bone pain, abdominal pain, pyschosis (depression)
CNS sx = weakness, confusion, coma
Renal sx = polyuria, nocturia, dehydration, renal stones
Gastrointestinal sx = constipation, pancreatitis, gastric ulcers
Heart = arrhythmias (short QT)
Acidosis will decrease affinity of albumin - thus free up calcium thats bound to albumin (whereas alkalosis will make albumin bind tighter thus decreasing free calcium levels).
follicular conjunctivitis, blindness
Chlamydia trachomatis A-C
conjunctivits, infant pneumonia
chlamydia - causing LGV
lymphogranuloma verum 2 and 3 --> inguinal bubo = painful enlarged inguinal masses
yersinia enterocolitica will appear like what disease in an adult
yersinia enterocolitica will appear like what in a child
yersinia enterocolitica treatment
entercolitica = found in dogs
pestis = fleas
Imipenem - what drug needs to be given along with imipenem
cilastin which is a dehydropeptidase I which prevents rapid metabolism at the liver - thus decreases adverse effects
Imipenem adverse effects
seizures, rash, diarrhea
imipenem clinical use
broad spectrum -->gram positive, gram negative, aerobes and anerobes
DOC for enterobacteriacea
RIPE - treatment for what
rifampin - binds to RNA polymerase
isoniazid - targets drugs of mycolic acid
pyrazinamide - acidifies lysosomes
ethambutol - inhibits arabinotransferase (carbohydrate polymerization)
Drugs that inhibit conversion of T4 to T3
How can coughing result in syncope?
coughing --> increased intrathoracic pressure during coughing episode decreases venous return to the heart thereby transiently decreasing cardiac output and cerebral perfusion.
what are 4 DNA repair mechanisms
1. nucleotide excision repair
2. mismatch repair
3. base excision repair
4. nonhomologous end joining
5. homologous repair
xeroderma pigmentosum (AR)
Repair mechanism = nucleotide excision repair
cells exposed to UV radiation --> adjacent pyrimidine residues become covalently linked thereby forming cyclobutane pyrimidine dimers. Most commonly occurs with adjacent thymine residues.
pyrimidine dimers are recognized by UV specific endoneucleases which creates a break in the affected DNA strand on 5' side of the dimer
Exonuclease then removes damaged DNA segment (this is defective in xeroderma pigmentosum)
what are clinical features of Xeroderma pigmentosum
normal at birth
increased risk for SCC, basal cell carcinoma, and melanoma
Bloom syndrome clinical features
defective DNA helicase
patients predisposed to lymphoproliferative and gastrointestinal malignancies
problem with nonhomologous end joining
defect ATM gene
particularly follows ionizing radiation
decrease in IgA, IgG, IgE
spider angiomas, ataxia, increase in AFP
defect in MSH1 and MSH 2
defect in DNA mismatch repair
colorectal adenocarcinomas at a young age before 50
proximal large bowel is most commonly affected
sarcoidosis - noncaseating granuloma
absence of surrounding lymphocytes = naked granuloma
Skin - erythema nodosum
Arthritis - hands and feet
Respiratory - bilateral hilar lymphadenopathy, pulmonary infiltrates
Cardiac - heart block, Ventricular tachy, heart failure
Ocular - anterior uveitis --> blindness
Intracranial - chronic meningitis, seizures, neuropathy
Derangement of liver and renal function - hepatic granuloma, hypercalcemia (bone pain, kidney stones, psychosis, arrhythmias, confusion)
hyperestrogenemia in cirrhosis
due to decreased metabolism of estrogen by failing liver, decreased production of sex hormone binding globulin by liver (which causes increased free sex hormone levels) and decreased metabolism of androgens which are converted peripherally to estrogens by aromatase.
lesion above red nucleus
decorticate - flexed arms
lesion below red nucleus
decerebrate - arms extended
multiple pigmented lesions
cafe au lait spots
Crowe's sign - axillary freckling
Lish nodules - pigmented iris hamartomas
whats histology of neurofibromas
consists of loose and disorganized proliferation of schwann cells (elongated wavy cells with spindly nuclei), fibroblasts, neurites.
Crohns and Ulcerative colitis
NOD 2 upregulates receptor for muramyl (type of PAMP) (bacterial products) and increases nf-kb transcription which leads to a pro inflammatory state
furthermore, absence or damage to tight junctions exacerbate inflammatory response. pg. pg 809
role of paclitaxel in coronary stents
functions by binding beta tubulin and preventing microtubule breakdown thus causing arrest of the cell cycle in the M phase. By inhibiting cellular division the presence of paclitaxel prevents stent restenosis by preventing intimal hyperplasia.
common causes of peroneal nerve injury
fracture of the fibular neck
blunt trauma to lateral leg below knee
pressure on fibular neck from tight fitting cast or work boot
what muscles are supplied by common peroneal nerve
extensor digitorum longus
extensor hallucis longus
sensory to anterolateral leg and dorsal foot
first step in pyrimidine cycle
production of carbamoyl phosphate from glutamine and carbon dioxide. Aspartate and phosphoribosyl pyrophosphate (PRPP) are additional substrates require.
CYP 2d6 (homozygous slow = poor metabolizers; homozygous fast = fast metabolizers)
codeine (fast metabolizers at risk for morphine A/E) and dextromorphan
Pt has weakness, lower extremity cramps, increased rate of urination. what electrolyte is this patient deficient in?
a 45 yr old man - suffered from cardiogenic shock - autopsy findings = bilateral wedge shaped bands of necrosis seen over cerebral convexity - appear to follow interhemispheric fissure. Whats the cause
hypoxic encephalopathy - this is describing hypoxia and resultant watershed infarction of the brain.
Cardiac embolism - presentation brain
multiple infarcts within different vascular territories
Hypertensive encephalopathy - presentation
headache, vomiting, confusion
brain edema and petechial hemorrhages will be found throughout the gray and white matter
hypertensive arteriolar sclerosis - presentation
long standing hypertension
predisposes to occlusion of small perforating branches of major cerebral arteries --> lacunar infarcs occur in basal ganglia, internal capsule, and
lenticulostriate arteries --> thalamus
what are the most vulnerable areas affected first in ischemia?
1. pyramidal cells of hippocampus (sommers sector)
2. perkinje cells of cerebellum
if ischemia is profound
then look for necrosis of the watershed areas - areas supplied by distal branches of MCA and ACA and PCA --> CORTICAL watershed infarcs appear as bilateral wedge shaped bands of necrosis over cerebral convexity.
VHL - disease of 3
chromosome 3 - autosomal dominant
paraneoplastic EPO from cerebellar hemangioblastoma
= hemi-angio-blastoma and pheo-chromo-cytoma, renal cell carcinoma, 3 letters =EPO increases RBC
bilateral renal cell carcinoma (major cause of death)
nevus of ota
trapped melanocyte in sclera - failure of neural crest cell migration.
seen in sturge weber, leptomeningeal melanosis, and NF1
osteogenesis imperfecta - eye
sclera appear blue due to choriodal veins.
neurofibromatosis type I
eyeball is longer
point at which light crosses is shorter than retina
improves with age - due to decrease with elastin
eyeball is too short
point at which light crosses is beyond the retina
Leber hereditary optic neuropathy - eye
Refsum, Kerne Sayer, abetalipoproteinemia, usher syndrome and drug (thioridazine) - cause what eye disorder
retinitis pigmentosa - morphology and pathology
severe vision impairment - blindness (often)
due to loss of photoreceptors
patients may experience defective light to dark adaptation and vice versa as a result of degeneration of peripheral visual field (tunnel vision)
bone spicule shaped pigment deposits
vitamin A def
characterized as squamous metaplasia producing localized keratin debris that deposits in conjunctiva
histology of cornea
stratified columnar with goblet cells at base of cornea then becomes squamous
Refsum (autosomal recessive) - info
Phytanic acid is a dietary branched chain
fatty acid, predominant in dairy products
• -Oxidation of phytanic acid takes place in
• Refsum disease is a disorder characterized
by deficiency of the peroxisomal phytanyl
CoA -hydroxylase (defect in -Oxidation)
• In this disorder, phytanate accumulates in
tissues, especially the neurologic tissues
• Characterized by visual defects, ataxia and
polyneuropathy and skeletal manifestations
• Management includes dietary restriction of
branched chain fatty acids
Zwelleger - info
Zellweger syndrome is characterized by
defective peroxisomal biogenesis mainly
affecting the liver and brain
• Levels of C26 fatty acids in circulation are
increased in Zellweger syndrome
• Neurological manifestations (mental
retardation) and hepatomegaly are most
• Usually fatal in infancy
leber hereditary optic
-defect in NADH dehydrogenase (ETC)
-mitochondrially inherited (transmitted from mother to offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; this affects predominantly young adult males
FCC - sclerosing adenosis (has atypical hyperplasia)
rare to present as palpable mass - instead detected by mammogram as denisty - must biopsy to rule out cancer
most common benign tumor of breast
responds to estrogen (thus increases in size during pregnancy)
mobile and spherical
most common cause of
masses in the breast (just palpable is fibroadenoma), lesions are multiple and painful with tenderness maximal during the premenstrual phase of the cycle.
mammary duct ectasia
dilation of lactiferous ducts
aka plasma cell mastitis or granulomatous mastitis
inflammation, granular debris and leukocytes with foamy histiocytes, lymphomononuclear cells, plasma cells and granulomas
induration (hardening) and nipple retraction
Melanoma - info
familial --> mutation of chromosome 9p21 (CDKN2A which encodes for cyclin dependent kinase inhibitor 2a (p16) which negatively regulates cell cycle progression at the checkpoint between G1 and S by binding to cyclin dependent kinase (CDK4). - P16 mutations interfere with its inhibition of CDK4 allowing the cell to advance through cell cycle.
atypical cells - irregular nuclear contours, hyperchromasia and spindle shaped
Tx can include hydroxyurea and aldisleukin and vemurafenib (inhibitor of B-Raf) Note that vemurafenib is for metastatic melanoma or unresectable.
BRAF and CDKN2A positive.
chronic hypertension and marfan syndrome
short alpha helix fragment with leucine residues at every seventh position is most likely part of a leucine zipper dimerization domain found in transcription factors.
these leucine zippers are short 30 amino acid alpha helical protein fragment with leucine residues at every seventh position
-transcription factors contain specific aa sequences (in this case a short strand of 30 aa) that bind to DNA (major groove) or to dimerize for DNA binding.
Two types of transcription factors
zinc finger transcription factor
Leucine zipper -biochem notes
psoas abscess vs appendicitis
-psoas abscess- fever right flank pain, difficulty walking, dysuria - prevents in patients with DM, HIV, IVDA
-appendicitis - fever, RLQ pain
both will have a positive psoas test
carbolfuchsin stain for what bacteria
Ziehl Neelsen acid fast stain
type II nuclear receptors
Germ cell tumors - male
seminoma - no marker - fried egg
embryonal carcinoma - inc AFP and HCG - large anaplastic cells with indistinct cell borders
yolk sac tumor (endodermal sinus) - inc AFP - schiller duval bodies (recapitulate glomeruli)
choriocarcinoma - inc bHCG - sheets of small cuboidal cells eosinophilic
mature teratoma - multiple tissues - totipotent
vitamin A analogues
structures that pass through diaphragm
I8 10E at 12
IVC and Rt phrenic N. - T8
Esophagus, Esophageal branches of left gastric vein, and 2 trunks of VAGUS nerve
T12 - "red white and blue" (red = aorta, white = thoracic duct, blue = Azygous vein)
Mature Onset Diabetes of the young (MODY)
defect in gene coding for glucokinase
-look for family history
-pancreatic islet cells have high set point to glucose
tarui glycogen storage disease
deficiency of PFK-1
severe myopathy early in childhood
myoglobinuria, hemolytic anemia
tons of glycogen
pompes disease - clinical findings
clinical hint --> Infant with heart findings, thats not due to congenital defect
cardiomyopathy (infantile hypertrophic cardiomyopathy)
only glycogen storage disease that shows with early clinical findings in heart
very early death
deficiency of lysosomal a1,4 glucosidase (acid maltase, acid alpha-glucosidase).
glycogen storage disease
muscle biopsy reveals abundant PAS positive intracellular granules
buccal barr body
INR below normal
Alkaptonuria - info
homogenistic acid oxidase deficiency
homogenistic acid accumulates in dermis, cartilage, and sclera
excreted in sweat in urine
urine will change color on standing (15 min)
decerebrate is a lesion where?
below red nucleus in midbrain
how will a patient appear with decerebrate posture
rigid, extended upper and lower extremities
decorticate is a lesion where
above the red nucleus (midbrain)
whats clinical presentation of patient with decorticate posture
flexed arms, extended lower extremities
edema in brain
vasogenic edema --> disruption of BBB leads to increased vascular permeability and plasma filtration into cerebral interstitium producing this form of edema
Cytotoxic edema --> refers to increased intracellular fluid within neurons, glia and endothelial cells that occurs when cellular injury impairs the Na/K ATPase following an ischemic insult. will not result in elevated ICP because it represents a shift of fluid from the extracellular compartment to the intracellular compartment.
complete Hep B virion
contains Dane particle (42nm) --> do not confuse with the 22nm HBsAg.
Note that hepatitis D virus (double shelled particle - resembles the dane particle) --> furthermore note that Hep D requires HBV external surface coat antigen to become infective.
general rule for fungi treatment
if systemic - use amphotericin B
antifungals - site of action
Flucytosine - MoA/ A;e
pyrimidine analog whose metabolites impair fungal DNA replication and RNA synthesis. Human cells are unable to synthesize the active metabolites. A/E include
bone marrow suppression
due to release of active metabolites by gut flora.
composed of spindle cells forming vascular channels with associated chronic inflammatory infiltrate (infected cd4 cells will release cytokines to induce mesenchymal cells - which results in proliferation).
CD 31 and 34 positive.
demeclocycline (used to treat bacterial infections, lyme disease, acne, and bronchitis, and off label treatment for hyponatremia due to SIADH - works by decreasing ADH sensitivity)
what is the only clotting drug that binds to fibrinogen
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