USMLE QBank Review Flashcards
Scaphoid Fractures
- most common of carpal bone fractures
- from fall on outstretched hand
- pain and tenderness in the anatomical snuffbox (scaphoid and trapezium for the floor)
- scaphoid branch of radial artery supplies scaphoid
- fractures = avascular necrosis and nonunion
Dupuytren’s Contracture
- slowly progressive fibroproliferative disease of the palmar fascia
- nodules form on the fascia, eventually resulting in contractures that draw the fingers into flexion
Opiod analgesics Sideefects
- I.e. Morphine
- can cause contraction of smooth muscle cells in sphincter of oddi leading to spasm and an increase in common bile duct pressures
- cause histamine release leading to vasodilation of blood vessels and itching = can cause hypotension
- constipation
- no direct toxic effect to liver but is metabolized by liver
- increase somatostatin secretion from pancreas
Sarcomere
- A band = thick filaments in sarcomere and includes portions overlapped by thin filaments. H band is apart of the A band
- I band = contains the Z line and actin filaments that do not overlap with thick filaments
Oral vs Anal drug bioavailability
- when taking an oral drug there is first pass metabolism by the liver which diminshes drug concentration in the systemic circulation
- sublingual drug administration can help bypass first pass metabolism
- rectal drug administration partially bypasses the first pass metabolism because 2/3 of venous drainage goes straight to IVC while the other goes into the portal veinous system
- IV, sublingual, and rectal administration bypasses some or all first pass and allows more drug to reach systemic circulation
Anti-Smith Antibodies
- associated with SLS
- smith protein normally complexes with small nuclear RNA in cytoplasm that forms SnRNPs
- autoantibodies directed against SnRNP’s = anti-smith antibodies ==> defect in removal of introns from mRNA
RNA types
RNA polymerase 2 = mRNA and snRNA
- other types of RNA are rRNA and tRNA
Lesch Nyhan Syndrome
If purine salvage is impaired then the activity of PRPP amidotransferase will increase to supply de novo purine synthesis
- X linked recessive disorder
Southwestern Blot
Helps to identify DNA binding proteins
Uses double stranded DNA as a probe (compared to Southern and Northern blot that use single stranded DNA as probes)
-c-Jun and c-Fos are nuclear transcription factors that directly bind DNA via a leucine zipper motif
- Southwestern Blots are used to detect DNA binding proteins like transcription factors, nucleases, and histones
Lesch Nyhan Syndrome
If purine salvage is impaired then the activity of PRPP amidotransferase will increase to supply de novo purine synthesis
- X linked recessive disorder
Cystic Fibrosis
- mutation in CFTR gene due to phenylalanine deletion
- chronic pulmonary infections, bronchiectasis, pancreatic insufficiency, digital clubbing
- infertility due to absence of vas deferens bilaterally (azoospermia)
- meconium ileus in new born
- CFTR gene mutations are the most common cause of bilateral absence of the vas deferens
- can diagnose with elevated sweat chloride levels and measurement of nasal transpeithelial potential difference
Primary Ciliary Dyskinesia
- dynein arm defect - abnormal ciliary motion and impaired mucociliary clearance
- chronic pulmonary infections
- situs in versus
- infertility due to immotile spermatozoa
Diagnosis - low nasal nitric oxide levels
- genetic testing
Kleinfelter Syndrome
- most common meiosis nondisjunction
- the higher numbers of X chromosomes = more severe manifestations
Clinical features - primary testicular failure due to hyalinization and fibrosis of the seminiferous tubules ==> infertility and cryptorchidism
- testosterone deficiency causes eunuchoid body habits = tall stature and gynecomastia
- facial and body hair are sparse or absent
- mild intellectual disability
- gynecomastia
- long legs
Marfan Syndrome
- arachnodactyly, scoliosis, aortic root dilatation
- due to an inherited defect of the ECM protein fibrillin
Fragile X Mental Retardation
- Macroorchidism = enlarged testes
- large jaw and long face
- large Everett ears
- mitral valve prolapse, flat feet, and hypotonia
- intellectual disability
CGG repeat
X -linked = affects the methylation and expression of the FMR1 gene
Turner Syndrome
45 XO
- short stature
- broad chest
- primary amenorrhea
Bloom Syndrome
Premature aging due to shortened telomeres
Telomerase
- reverse transcriptase (RNA-dependent DNA polymerase)
- lengthens telomeres by adding TTAGGG repeats to the 3’ end of chromosomes
Insulin Biochemical Pathway
Anabolic hormone that acts via tyrosine kinase signaling to increase the synthesis of glycogen, proteins, fatty acids and nucleic acids
-Tyrosine kinase/phosphatidylinositol-3-kinase stimulation promotes glycogen synthesis by activating protein phosphatase, an enzyme that de phosphorylates (activates glycogen synthase)
Once pro insulin is made in the RER there is cleavage of pro insulin in the islet cell secretory granules that yields insulin and C-peptide which are stored in the granule until they are secreted in equimolar amounts
What is tetrahydrobiopterin a cofactor for?
Tetrahydrobiopterin (BH4) is a cofactor in the synthesis of serotonin, tyrosine, and DOPA
Phenylalanine –> Tyrosine –> DOPA –>Melanin or Catecholamines
Tryptophan –> 5 hydroxytryptophan –>Serotonin
- serotonin is formed via hydroxylation and decarboxylation of tryptophan
- Phenylketonuria can result from BH4 deficiency due to Dihydropyridine reductase deficiency ===> serotonin deficiency and hyperphenylalanemia. Treatment = low phenylalanine diet and BH4 supplementation
Ventricular Septal Defect
Low pitched holosystolic murmur heard best at the left sternal border with increase in hand grip
Atrial Septal Defect
- mid-systolic pulmonary ejection murmur that results from increased flow across the pulmonic valve
Aortic Regurgitation
Early diastolic murmur
Genital Ulcer Disease
Check Pictures