Quiz 46,47,48 Flashcards
How does one acquire brucellosis?
Drinking contaminated milk or coming in contact with infected livestock
What is fancisella tularensis?
Gram negative coccobacillus
What is the disease presentation of ulceroglandular tularemia?
Rupturing pustule followed by an ulcer with involvement of regional lymph nodes
How does one acquire ulcerglandular tularemia?
Handing rabbits, deer or their skins, or from tick bites that fed on the rabbits or deer.
What is the geographic location of fancisella tularensis? What is the treatment?
Arkansas/Missouri; treat with stretomycin
What is the inheritance pattern of Friedreich ataxia?
Autosomal recessive, resulting in trinucleotide repeat expansion.
Why is CN II susceptible to MS?
Myelinated by oligodendrocytes
What is the inheritance pattern of Fragile X syndrome?
X-linked dominant – resulting in trinucelotide repeat of CGG
What physical features are seen in Fragile X syndrome?
Long and narrow face with prominent forehead and chin, large ears, testicular enlargement.
What are affected by prevalence?
PPV and NPV
Decline in prevalence affects negative predictive value by…
Increasing the NPV
CDKN2A loss of function mutation results in what?
Melanoma
What is the intracellular form on chlamydiae? Extracellular form?
Reticulate bodies = intracellular; elementary bodies = extracellular
What chromosomal abnormality causes cri-du-chat syndrome?
Deletion of the short arm of chromosome 5 (5p-)
What cardiac defect is seen in Cri-du-chat?
Ventricular septal defect
What is seen on gross examination of the liver in focal nodular hyperplasia?
Central scar
What population is at risk for focal nodular hyperplasia?
Women taking OCPs or exogenous hormones.
What is the inheritance pattern of MCAD?
Autosomal recessive
What deficiency causes accumulation of C8-C10 acylcarnitines?
MCAD
Why is hyperammonemia seen in MCAD?
Body relies on proteolysis, which requires the urea cycle to breakdown ammonia
Why is there hypoglycemia in MCAD?
Decreased gluconeogenesis due to decreased NADH and ATP and decreased acetyl-CoA
MCAD deficiency results in what type of fasting metabolic deficiencies?
Hypoglycemic hypoketonic
Perfusion to the aorta distal to the coarctation is maintained via collateral flow through what arteries?
Internal thoracic (mammary) arteries which give rise to the anterior intercostal arteries
What is the cause of X-linked Bruton agammaglobulinemia?
Mutation in the cytoplasmic tyrosine kinase
What cell line maturation process is blocked in X-linked (Bruton) agammaglobulinemia?
B cell
What immunoglobulin(s) is/are deficient in X-linked agammaglobulinemia?
IgM, IgA, IgG
What results when the gamma chain of IL-2 receptor is absent?
SCID
What is the result of adenosine deaminase deficiency?
SCID
Tonic-clonic seizure activity produces what from skeletal muscles?
Lactic acid
What is the most common cause of peritoneal carcinomatosis?
Ovarian cancer
What is the classic auscultation of ASD?
Mid-systolic ejection murmur at the LUSB and a wide, fixed splitting of the second heart sound
What is heard on auscultation of PDA?
Machine-like murmur
What is the most common mutation worldwide for CF?
Delta F508 mutation on CFTR gene – prevents proper protein folding
What type of polyp has sawtooth glandular epithelium with proliferation of goblet and columnar epithelial cells?
Hyperplastic polyp
What does the thyroid diverticulum give rise to?
The thyroid gland
What are the muscles of facial expression developed from?
Second pharyngeal arch
What is a never event?
Shocking medical error that should never occur
What are the hormonal findings in Turner syndrome?
Increased FSH, increased LH, decreased estrogen, decreased inhibin, and normal growth hormone.
What karyotype results in Turner syndrome?
45,X
What is the chromosome site involved in FAP?
5q21 = APC gene
Is the APC gene an oncogene or tumor suppressor gene?
Tumor suppressor
What chromosome is affected in Wilms tumor?
11
What chromosome is affected in retinoblastoma? What other cancer is seen?
Chromosome 13, gene Rb; can also see osteosarcoma
What is the family and genome of the virus causing mumps?
Paramyxoviridae family; -ssRNA, helical enveloped virus
What are members of the paramyxoviridae family?
Measles, mumps, RSV, parainfluenza
What does diphtheria toxin do?
Inactivates eukaryotic elongation factor eEF-2
A rare AE of ticlopidine?
Neutropenia/agranulocytosis
What is the MOA of ticlopidine?
Inhibits ADP from binding to platelet receptors
What is the mechanism of action of clopidogrel?
Irreversibly blocks ADP from binding platelets.
What does medicare part A cover?
Hospital, nursing facility, hospice and home health care
What does medicare part B cover?
Services from physicians and other health care providers, Xrays, labs
What are allotypes? What can they be used for?
Minor amino acid differences in the constant domains of antibody molecules; dictated by genetic inheritance and can be used for paternal testing
What is Libman-Sacks endocarditis?
Small, granular vegetations on both sides of the leaflets; commonly affects aortic and mitral valve
What is the characteristic finding on biopsy of primary biliary cirrhosis?
Chronic granulomatous inflammation leading to destruction of medium-sized intrahepatic bile ducts
What antibodies are seen in primary biliary cirrhosis?
Antimitochondrial autoantibodies
What labs are elevated in primary biliary cirrhosis?
Alkaline phosphatase and conjugated bilirubin
PDSA model stands for what? What simple concept does it use?
Plan, do, study, act; “trial and error” concept
Paralysis to the genioglossus muscle results in what on physical exam?
Deviation toward side of lesion
What contains the epithelial stem cells?
The dermis skin appendages (eg hair follicles)
The heterophile antibody test is what type of assay?
Latex agglutination assay
What is used to diagnose EBV infectious mononucleosis?
Heterophile antibody test
What is Trousseau’s sign?
Carpopedal spasms due to cutting off blood supply to hand with blood pressure cuff or tourniquet
What is a complication of subtotal thyroidectomy?
Transient hypocalcemia due to accidental removal/damage to parathyroid glands
What is the genotype and family of adenovirus?
dsDNA virus, linear, non-enveloped, icosahedral
Name 5 drugs that can cause priapism
Hydralazine, prazosin, chlorpromazine, sildenafil, tadalafil
What is Couvoisier sign? What does it suggest?
Non-tender, palpable gallbladder; suggests choledocholithiasis
What is lysogenic conversion?
Virulence is modified by the stable presence of phage DNA in the bacterial cell
List the examples of lysogenic conversion:COBEDS
Cholera toxin O antigen of Salmonella Botulinum toxin Erythrogenic toxin of S. pyogenes Diphtheria toxin Shigga toxin
Why might dorsiflexion be lost when draining a popliteal cyst?
The common fibular (peroneal) nerve is superficial and lies immediately adjacent to the tendon of the biceps femoris.
What nerve is responsible for dorsiflexion?
The deep fibular nerve - innervate anterior compartment of the leg
What innervates the posterior compartment of the leg?
Tibial nerve
What nerve is responsible for sensation to the sole of the foot?
Medial and lateral plantar nerves, both are branches of the tibial nerve
What structures course through the popliteal fossa?
Popliteal artery and vein, and tibial nerve
HEXA mutation results in what disease?
Tay Sachs
What enzyme is deficient in Tay Sachs?
Hexosaminidase A - responsible for degradation of GM2 gangliosides
What are characteristic findings on PE in Tay Sachs?
Cherry red spots in macula, blindness, psychomotor retardation
What is the inheritance pattern of Tay Sachs?
Autosomal recessive
What is the rate limiting step of glycolysis?
Phosphofructokinase 1
Smudge cells are characteristic of what disease?
Chronic lymphocytic leukemia
What personality disorder is characterized by colorful, exaggerated behavior and excitable shallow expression of emotions?
Histrionic PD
Histrionic PD shows what type of behavior?
Draw attention to self, sexually seductive
Patients who week constant reassurance from partners may have what type of personality disorder?
Dependent PD
What causes pseudoappendicitis?
Yersinia enterocolitica
What is yersinia entercolitica? (Gram stain, etc. etc. )
Gram negative rod, non-lactose fermenting, non-H2S producing, oxidase negative
How can one acquire an infection with yersinia entercolitica?
Contaminated, unpasteurized milk; contaminated pork
What temperature does yersinia entercolitica grow at? What is unique about this organism in temperature?
Grows well at less than body temp (77 F or 25 C); motile at 25 C and nonmotile at 37 C
What is the cause of Chagas disease?
Trypanosoma cruzi
Chagas disease can cause what?
Megaesophagus, megacolon, cardiomyopathy/cardiac failure
What type of collagen makes articular hyaline cartilage?
Type II collagen
What type of collagen makes bone?
Type I collagen
What is the largest intestinal roundworm?
Ascaris lumbricoides
What type of blot is used to identify protein-DNA interactions?
Southwestern blot
What muscle(s) is/are innervated by the spinal accessory nerve?
Trapezius and sternocleidomastoid
What are the most common cerebellar tumors in children?
Pilocytic astrocytoma and medulloblastoma
Cyst with a mural nodule is seen on CT of brain, what is it?
Pilocytic astrocytoma
What disease is pilocytic astrocytoma strongly associated with?
Type 1 neurofibromatosis
What is a histiopathologic clue seen in pilocytic astrocytomas?
Rosenthal fibers - corkscrew-shaped, intensely eosinophilic structures deriving from accumulation o alpha-beta crystallin with astrocytic processes
What stain can be done for pilocytic astrocytomas?
Glial fibrillary acidic protein (GFAP)
Perivascular pseudorosettes
Ependymoma
Where is a medulloblastoma found?
Located in the midline posterior fossa and infiltrates the cerebellar vermis
What can be seen histologically in a medulloblastoma tumor?
Homer-Wright rosettes –considered pseudorosettes
What in synthesized in the SER?
Phospholipids, triglycerides, and sterols (including sex hormones)
What translocation is seen in follicular lymphoma?
14;18
What translocation is seen in mantle cell lymphoma?
11;14
What translocation is seen in AML?
15;17
What translocation is seen in Burkitt lymphoma?
8;14
What is the result of the translocation that occurs in follicular lymphoma?
Hybrid bcl-2/immunoglobulin heavy chain transcript due to t(14;18)
What are the two inheritance patterns of Albers-Schonberg disease? When do they present?
Autosomal recessive – severe form; produces death in childhood
Autosomal dominant – presents late childhood to early adulthood
What cell type is functioning abnormally in Albers-Schonberg disease?
Osteoclasts
What is seen on an Xray of osteopetrosis?
Bony widening with partial obliteration of marrow spaces (Ehrlenmeyer flask-shaped lesions seen in long bones)
What is the MOA of niacin?
Decreases VLDL, LDL, and triglycerides and increases HDL levels
What is the most common SE of niacin?
Facial flushing
What is the MOA of statins?
Ihibit HMG-CoA reductase
What cord(s) make(s) up the median nerve? Musculocutaneous nerve?
Median arises from a combination of the medial and lateral cords of the brachial plexus;
Musculocutaneous arises from lateral cord only
What are three types of antibodies that could be ordered to diagnose SLE?
Anti-smith antibodies, ANA, anti-dsDNA antibodies
What type of seizures are treated and prevented by ethosuximide?
Absence seizures
What should be used to treat status epilepticus immediately?
Benzos
What status epilepticus?
Single unremitting seizure that lasts 5-10 minutes, or frequent seizures without interictal return to baseline state
What is overexpressed in follicular lymphoma?
Bcl-2 – inhibits apoptosis and therefore allows for accumulation of cells
What translocation occurs in follicular lymphoma?
14;18
What type of HSR is MS?
Type IV - against myelin basic protein?
What is the inheritance pattern of Becker muscular dystrophy?
X-linked recessive
What is the genetic abnormality in Becker Muscular Dystrophy?
In-frame mutation of an X-linked gene
What characteristics are seen in Turner syndrome?
Short stature cystic hygroma (webbed neck)
What is the MOA of azoathioprine?
It is a purine antimetabolite and inhibits de novo purine synthesis.
What is a major SE of azathioprine?
Bone marrow suppression - leukopenia, thrombocytopenia, anemia
What are the TORCH infections?
Toxoplasmosis Other (syphilis) Rubella Cytomegalovirus Herpes simplex virus
What is the common triad of congenital CMV infection?
Cutaneous hemorrhages (“blueberry-muffin baby”), sensorineural deafness, periventricular CNS calcifications
What two congenital infections result in “blueberry muffin baby”?
Rubella and CMV infection
In an adult infected with Parvovirus B19, what infection do they have? What are the symptoms?
Rubella; symptoms include 3 day rash and transient arthralgia
What is seen on an infant with an in utero rubella infection?
In utero rubella infection can cause mental retardation, PDA, pulmonary stenosis, blindness, encephalitis, sensorineural hearing loss, congenital cataracts and glaucoma, pigmentary retinopathy.
What characteristics are seen in congenital syphilis?
Usually results in hydrops fetalis
If survive: Skeletal abnormalities (osteochondritis and periostitis), pseudoparalysis, persistent rhinitis and maculopapular rash (bronzing rash), deafness
What vessels contain 60-70% of the total blood volume?
Systemic veins and venules
What are the SEs of glucocorticoids?
Hypocalcemia, fluid retention, hypokalemia, hyperglycemia, and hypertension. With chronic use can see osteoporosis
What chromosome is BRCA-1 found on?
Chromosome 17q
What chromosome is BRCA-2?
Chromosome 13
What chromosome is p53 found on?
17p
What gene is associated with inherited breast and ovary cancer?
BRCA-1
What interleukin is responsible for IgE?
IL-4
Clawing of digits IV and V is associated with what nerve injury?
Ulnar nerve
Total clawing of the hand is associated with what brachial plexus injury?
Lower trunk injury - combination of median and ulnar nerve
What is the function of the lumbricals?
Extension at the interphalangeal joints while simultaneously flexing the metacarpophalangeal joint
Lumbricals for digits IV and V are innervated by what nerve?
Deep palmar branch of the ulnar nerve
What function does the superficial branch of the ulnar nerve serve?
Cutaneous sensory innervation to the palmar and dorsal surfaces of digit V and the ulnar half of digit IV
What is amaurosis fugax?
Transient dimming of vision in entire visual field; can be due to microemboli from atherosclerotic plaques (associated with carotid bruits)
Patients with celiacs have increased risk of what skin condition?
Dermatitis herpetiformis
Patients with Celiacs have increased risk of what malignancies?
Intestinal lymphoma, esophageal SCC, and non-Hodgkin lymphoma
What is seen in RBCs during G6PD deficiency related anemia?
Heinz bodies (blue granules located in periphery)
What is the most common primary cardiac neoplasm? What is seen on histology?
Cardiac myxoma; consists of stellate mesenchymal cells with myxoid background and inflammatory and endothelial cells
Where is the most common location for cardiac myxoid tumors?
Left atrium