Wrong answers Flashcards
Familial hypercholestermia (type II A)
the most common inherited dyslipidemia lipid disorder; defect in LDL receptors and ApoB-100; there is elevated LDL; pt will present w/ premature atherosclerosis (men <55; women <65), tendon xanthomas and xanthelasmas (skin xanthomas - deposits of lipid-rich foam cells in the dermis; presents w yellow rubbery nodules and plaques)
False negative H. pylori test
can occur in urea breath testing and stool antigen studies in pts using **PPI’s bismuth or antibiotics; they suppress bacterial growth but do not eradicate H. pylori unless used in combination in quadruple therapy
diastolic thrill palpable over the cardiac apex and a low-pitched, rumbling, mid-diastolic murmur best heard over the apex when the pt is lying in the left lateral decibitus position
mitral stenosis findings
adolescent with bloody stools, PE reveals conjunctival pallor and blood-streaked stool within the rectal vault
Peutz-Jeghers syndrome; AD tumor suppressor gene mut; pigmented macules in lips/palms/soles; **multiple GI hamartomatous polyps - increased cancer risk (GI, breast and GU)
Liposarcoma
soft tissue malignancies that contain a numerous lipoblasts (well-demarcated lipid shifts with the cells characteristically causing nuclear indentations and **scalloping of the nuclear membrane; most common in middle aged adults as slow-growing masses
Pemphigus Vulgaris (PV)
painful bullae and erosions, oral involvement and extension of lesions w/ direct pressure (Asboe-Hansen sign); antibodies against desmogleins (help form desmosomal junctions - epidermal IgG and C3 deposits will be found between keratinocytes); ** net-like or chicken-wire pattern
Alcohol-related cerebellar degeneration
results from long-term heavy alcohol use; loss of purkinje cells that are prominent in the cerebellar vermis; pt experience ataxia the progresses over weeks to months before eventually stabilizing; wide-based gait and truncal instability; a course, rhythmic, postural tremor of the fingers and hands, dysarthria and diplopia
A systolic murmur that increases in intensity with maneuvers that decrease LV blood volume is highly suggestive of what pathology?
hypertrophic cardiomyopathy
proteins and their functions in prokaryotic DNA replication
Lynch syndrome
ovarian mass, ascites and elevated CA-125 has the typical presentation of ovarian cancer FH in 1st degree relatives strongly suggest Lynch syndrome (AD) that increased risk of colorectal, endometrial and ovarian cancers; Lynch is caused by germline mut involving mismatch repair (MMR) in MSH2, MLH1, MSH6 and PMS2
MOA of tacrolimus (immunosuppressant)
a calcineurin inhibitor that prevents the gene transcription of IL-2 in T-cells; can cause a rise un BUN and creatinine levels that is thought to be due to afferent and efferent arteriolar constrictions - **Renal arteriolar vasoconstriction; long-term can lead to obliterative vasculopathy
Alkaptonuria
AR distordre caused by defectes in homogentisic acid deoxygenate (HGD) leading to impaired tyrosine metabolism; clinical homogentisic aciduria (blackening of the urine); ochronosis (blue-black pigments deposits in eyes, ears and nose); and pigment deposits in spine and large joints; diagnose w/ increased homogentisic acid levels in the urine
Clinical homogentisic aciduria (blackening of the urine); ochronosis (blue-black pigments deposits in eyes, ears and nose); and pigment deposits in spine and large joints
Alkaptonuria - AR distordre caused by defectes in homogentisic acid deoxygenate (HGD) leading to impaired tyrosine metabolism; diagnose w/ increased homogentisic acid levels in the urine
Fragility fracture
fracture resulting from a low-level trauma (fall from standing height); strongly suggest osteoporosis; the most common cause in a young active women is **hypogonadatrophic hypogonadism which manifests as suppressed GnRH; leading to amenorrhea and bone loss
Homocystinuria
an AR disorder results cystathionine-beta synthase (CBS) mut; leads to a buildup of both methionine and homocysteine; pt presents with marfanoid features - tall, thin stature, arachnodactyly (elongated fingers and toes)
** distinguish from Marfan syndrome - intellectual disability, hyper coagulability and ectopic lentis (dislocated lens) - displaced upward in homocystuniura and upward in Marfan
CMV retinitis treatment
HIV pt is likely to have cytomegalovirus (CMV) retinitis - CD4 <50/mm3; best treated w/ ganciclovir - inhibits DNA chain elongation by incorporating into viral DNA and viral DNA polymerase
Genetic shift
nonpathogenic and pathogenic strains are grown in culture and the nonpathogenic strain presents with enhanced infectivity - cause by **reassortment
McArdle disease
glycogen storage disease type V - AR caused by deficiency in muscle glycogen phosphorylase (myophosylase) - enzyme that **cleaves 1,4 - alpha-glycoside bonds; presents w/ muscle weakness shortly after initiating exercise in adolescence or early adulthood
Atrial fibrillation JVP waveform - ineffective atrial contraction and absence of end-diastolic atrial kick that forces blood into the ventricles
Tetralogy of Fallot (TOF) clinical presentation
cyanosis at birth with a harsh systolic ejection murmur; situations that increase right ventricular outflow obstruction (crying, agitation) or decrease SVR (exercise) can trigger **hypercyanotic episodes “tet” spells which present in rapid/deep breathing and cyanosis - during these spells children **squat to relieve cyanosis - increases SVR resistance improving oxygenation
A tumor of this structure
pineal gland tumors (pinealomas) - damage the dorsal midbrain causing Parinaud syndrome; presents with **upward gaze palsy, absent pupillary light reflex and impaired convergence
During healing if the GI, new intestinal epithelial cells differentiate from *stem cells that reside where?
in the deepest portions of the Crypts of Lieberkuhn
Important inherited hyperlipoproteinemias
Familial chylomicronemia syndrome (type I)
defect in lipoprotein lipase and ApoC-2; there will be elevated chylomicrons
Major manifestations: acute pancreatitis, lipemia retinals and eruptive xanthomas
Familial hypercholesterolemia (type IIA)
defect in LDL receptor and ApoB-100; there will be elevated LDL
Major manifestations: premature atherosclerosis, tendon xanthomas and xanthelasmas
Familial dysbetalipoproteinemia (type III)
defect in ApoE; will have elevated chylomicron and VLDL remnants
Major manifestations: premature atherosclerosis, tuboeruptive and palmar xanthomas
Familial hypertriglyceridemia (type IV)
polygenic defect; elevated VLDL; associated with coronary disease, pancreatitis and diabetes
False negative H. pylori urea breath test
can occur in pts using PPIs, bismuth, or antibiotics; these agents suppress growth but do not eradicate H. pylori unless given in combination as part of quadruple therapy
Horner Syndrome
triad of miosis (constricted pupil), ptosis (droopy eyelid), and anhidrosis (loss of hemifacial sweating)
Interruption in the pathway: T1/T2 level at spinal cord to *stellate ganglion in paravertebral sympathetic chain to superior cervical ganglion to carotid plexus, transverse to ciliary and oculomotor nerves
receiver operating characteristic (ROC) curves
can be produced by plotting sensitivity (true positive rate) against 1-specicity (false positive rate)
Accuracy is reflected by the areas under the ROC curve (AUC) line A is the most accurate for diagnoses purposes
Medication used to treat a small bowel obstruction that is contraindicated in Parkinson disease
Metoclopramide - dopamine receptor antagonist can lead to an exacerbation of existing parkinsonian symptoms and sometimes de novo in pts w/o parkinson
MOA of antiviral medications: acyclovir, valacyclovir, famciclovir and ganciclovir?
inhibits DNA chain elongation by incorporating into viral DNA and inhibiting viral DNA polymerase
Parkinson disease pathology?
degeneration of dopaminergic neurons in substantial nigra leading to progressive deficiency of dopamine w/I the basal ganglia
characteristic finding of intraneuronal accumulation of **alpha-synuclein and ubiquitin
Antibiotics acting on 50S subunit
chloramphenicol, clindamycin, linezolids and some macrolides such as: Azithromycin and Clindamycin which bind the 23S rRNA of the 50S ribosomal subunit
Cystic hygroma
a lymphatic malformation caused by dysgenesis of the lymphatic system: 1 hour baby w/ anterior fontanelle open, soft and flat; neck is supple, there is a large, doughy mass covered by skin above the left clavicle and lateral to SCM; the mass transilluminates w a light source
most commonly associated w trisomies (particular trisomy 21) and Turner syndrome (45, XO)
lactose intolerance pathology
lactase expression is generally high in infancy and early childhood when milk is the primary source of nutrition however *gene expression naturally declines with age resulting in primary lactose intolerant
Kluver-Bucy syndrome
neuropsychiatric syndrome that results from b/l damage ti the temporal lobes (amygdala - represented as C) presents w/ socially inappropriate sexual activity and an oral fixation that motivates people to put things in their mouths (hyperphagia), placidity and amnesia
commonly associated w HSV-1 encephalitis due to the virus affinity for temporal lobes and limbic system
Tardive dyskinesia (TD)
medication-induced movement disorder that results from *prolonged exposure/long-term use of dopamine-blocking agents; this will cause receptor up regulation
Dopamine beta-hydroxylate deficiency
impair synthesis of NE and epi; there will be impaired sympathetic adrenergic activity; presents w/ postural (orthostatic) hypotension, exercise intolerance, nasal congestion and ejaculatory difficulties
Polio vaccines
oral polio vaccine contains attenuated live virus that can revert to a virulent form and cause vaccine-associated paralytic poliomyelitis. Inactivated polio vaccine contains killed virus and canNOT revert to a virulent form
Superior vena cava (SVC) syndrome
SVC obstruction which is caused by tumor (90%); impaired upper body venous drainage results in increased venous pressure and symptoms that include face and neck edema, neck vein engorgement and dyspnea.
Rabies
eosinophilic neuronal cytoplasmic inclusions (Negri bodies); causes painful pharyngeal muscle spasms and hydrophobia; most cases arise from an animal bite (I the US bats are the most common vector, outside of the US, unvaccinated dogs)
Orlistat
an intestinal lipase inhibitor that reduces dietary fat; it is often recommended as 1st line tx due to favorable safety profile, but has significant GI side effects; anti-obesity drug - produces modest weight loss
Membranous nephropathy
nephrotic syndrome; imune-complex deposition in the subepitehlial portion of glomerular capillary walls; often idiopathic but associated w/ solid tumors; will see diffuse thickening of the glomerular BM; sub epithelial immune-complex deposits form “spikes” visible w/ silver stain and electron microscopy
Entamoeba histolytica
protozoan transmitted via oral-fecal contact (contaminated water/sexual activity), may present w. abdominal pain, diarrhea, and bloody or mucoid stool. Stool microscopy shows cysts and trophozoites which characteristically possess phagocytoses erythrocytes
Urethritis with epididymitis
urethral discharge and enlarged, painful testicles caused by STIs:
C trachomatis (nongonococcal urethritis) - neutrophils w/ no organisms on gram stain - tx w/ bacterial protein synthesis inhibitors (azithromycin and doxycycline)
N gonorrhoeae - gram (-) stain w/ diplococci - tx w/ both a cephalosporin and azithromycin
16%
“68/95/99” rule is an important attribute of normal distribution; 68% of values will lie within 1 SD, 95% of values within 2SD and 99.7 of values of 3SD
90 BG is the mean so 85-95 is 68%, values below and above are 16%
MOA of HIV antiretroviral medications
brain development
Reed-Sternberg “owl’s eyes” cell, a large cell with abundant cytoplasm, multiple nuclei or a multilobated nucleus and prominent eosinophilic nucleoli is classic histologic finding in Hodgkin lymphoma
antifungal drug targets
Cryptococcus neoformans is typically tx w/ Amphotericin B which is a polyene macrolide anti fungal that binds ergosterols (unique to fungi) creating pores in the cell membrane; nephrotoxicity is major adverse effect
Pathological findings in Nephritic Syndrome
cervical transformation zone
Renal cell carcinoma; adenocarcinoma of the tubular epithelial cells; a primarily malignancy that occurs in older male smokers; presents as gross hematuria, flank pain, weight loss or fever; labs may show polycythemia or hypercalcemia as result of paraneoplastic syndrome of EPO and PTHrp; well-circumscribed, centered on the renal cortex and if large may distort kidney contour; brain is frequent site of metastasis (hematogenous)
Candida vulvovaginitis
involves the overgrowth of normal vaginal Candida flora; symptoms of pruritus, erythema and white discharge; tx w intravaginal agents such as clotrimazole, miconazole, or nystatin or oral fluconazole
55 yr old w severe vaginal pain and itching during intercourse; here is the vaginal smear.
Candida albicans
x moves to which location during exercise?
to H
relationship among these three agents
Drug X is more potent than drugs Y or Z
red bumps on the skin looks like “goosebumps”
Keratosis pilaris
Park At Venture Avenue
cardiac action potential is the slowest in the AV node and fastest in the Purkinje system; note that speed of atrial muscle is higher than the ventricular muscle
Paget disease of bone
Paget disease of bone is characterized by excessive and disordered bone formation; commonly involves the skull (ex: HA), spine (ex: radiculopathy, spinal stenosis) or long bones (bone pain); long-term complications of Paget disease include fracture, hearing loss and malignant transformation leading to osteosarcoma
Globus sensation
is the feeling of a “lump in the throat” w/o accompanying physical, endoscopic, or radiologic findings of esophageal obstruction
Oseltamivir
Oseltamivir is an inhibitor of the neuraminidases of influenza A and influenza B viruses; prevents the release of newly formed viral particles
Protein synthesis
many proteins are synthesized as a large precursor polypeptides containing the active protein sequence in addition to signaling sequences and protective sequences; removal of these nonfunctional polypeptide sequence (post translational) is accomplished by specific end-proteases and yields a smaller functional protein
bronchial smooth muscle relaxation
activation of the M3 receptors in the lung by Ach leads to bronchial smooth muscle constriction; atropine competitively inhibits muscarinic receptors on bronchial smooth muscle, leading to smooth muscle relaxation
Elderly and benzodiazepines
slower benzodiazepine metabolism and elimination in the elderly increase the liklihood of adverse effects such as confusion, anterograde amnesia, ataxia and falls
Anticholinergic toxicity
anticholinergic intoxication causes fever, dry skin and mucous membranes, flushing, blurred vision, and altered mental status; Jimson weed is a drug of abuse that can cause anticholinergic toxicity
diabetic foot
individuals w DM should inspect their feet daily for signs of trauma or infection
Molluscum contagiosum
characterized by umbilicated flesh-colored papules on the skin and mucous membranes; caused by a poxvirus which appears in pathologic specimens as eosinophilic cytoplasmic inclusions (molluscum bodies)
characterized by umbilicated flesh-colored papules on the skin and mucous membranes; caused by a poxvirus which appears in pathologic specimens as eosinophilic cytoplasmic inclusions (molluscum bodies)
Posterior knee dislocation
the popliteal artery runs just posterior to the knee joint and is rigidly fixed proximally and distally by the adductor magnus and soles muscles, respectively making it highly susceptible to injury during tibiofemoral dislocation; injury is a primary concern in posterior knee dislocation due to the potential for LE ischemia-related complications
key defense mechanisms
Sublimation
mature defense mechanism in which a person channels unacceptable thoughts and impulses into socially acceptable behavior
paralysis of the serrates anterior muscle
injury to the long thoracic nerve along the lateral chest wall my occur due to penetrating trauma or a surgical procedure (ex: axillary lymph node dissection); damage to this nerve causes inability to raise arm above the head and protrusion or winging of the medial border of the scapula when the outstretched arm is pushed forward against resistance
Schizophreniform disorder
psychotic disorders share signs and symptoms but differ in duration; brief psychotic disorder lasts <1 month; Schizophreniform disorders lasts >1 month and <6 months; a dx of schizophrenia requires a duration of at least 6 months
DSM-5 psychotic disorders
False positive rate (FPR)
this is not the same as FP!!
FPR = 1- specificity
Acute intermittent porphyria
acute intermittent porphyria is caused by deficiency of porphobilinogen deaminase and is characterized by intermittent episodes of abdominal pain w neurological manifestations following exposure to an offending medication; urine from pts during attacks will classically darken when exposed to sunlight; skin photosensitivity is characteristically absent
Subacute combine degeneration
Vitamin B12 (cobalamin) deficiency can cause SCD of the spinal cord due to impaired myelination in the dorsal columns (diminished tactile/vibratory sensation) and lateral corticospinal tracts (hyperreflexia, Babinski)
Myasthenia gravis
MG is an autoimmune disease that affects the postsynaptic Ach receptors on NMJ and presents w fatiguable MSK weakness (comply the eyes); thymus abnormalities are extremely common in pts w MG; pts often improve w thymectomy
Knudson’s 2-hit hypothesis
Retinoblastoma is a childhood tumor that results from separate mutagenic events that inactivate both copies of the RB1 tumor suppressor gene; gremlin mut is one the RB1 gene cause “hereditary” retinoblastoma, which is associated w the development of other primary tumors (ex: osteosarcoma)
DiGeorge syndrome
results from failed development of the 3rd and 4th pharyngeal pouches; a hypo plastic or absent thymus results in recurrent Candida infections (thrush) due to impaired cell-mediated immunity; flow cytometry show low CD3+ fraction but normal CD20+ fraction
neonatal intraventricular hemorrhage
premature infants are at high risk of intraventricular hemorrhage due to germinal metric fragility; the germinal matrix is dense, highly cellular, vascularized layer of the brain that starts disappearing at 28 wks gestation and fully involutes by term; hemorrhage and clots may extend into the ventricular system and cause altered mental status
Cisplatin
the MOST ototoxic chemo agent; thought to damage hair cells in the cochlear membranous labyrinth
Amiodarone-induced interstitial pneumonitis
presents w progressive dyspnea, nonproductive cough, fever and patchy interstitial infiltration; condition is usually reversible;e w a reduction in dose or discontinuation of the drug
keratinizing invasive squamous cell carcinoma
cervical lymphadenopathy may be presenting symptoms of the head and neck SCC, which originates from the mucosa of the upper GI tract
Allelic heterogeneity
different mutations in the same genetic locus causes similar phenotypes; heterogeneity of disease may be explained by the fact that some mutation cause complete loss of protein while others only cause partial loss
cysteinyl-containing leukotrienes
inspiration of high volumes of cold and dry air can trigger an inflammatory response similar to atopic asthma; mast cells and eosinophils release cysteinyl-containing leukotrienes (leukotriene C4, D4, and E4) that trigger bronchospasm, bronchial mucus secretion and bronchial edema
bacterial antibiotic efflux pumps
common cause of drug or multi drug resistance; they actively transport antibiotics out of the bacteria into the external environment using ATP, sodium gradients or proton electrochemical gradients for energy
Achondroplasia
caused by a GOF point mut of the fibroblast growth factor receptor 3 (FGFR3) gene and presents w proximal limb shortening w resultant short stature, mid face hypoplasia and frontal bossing
X-linked agammaglobulinemia
caused by a defect in the BTK gene on the X chromosome which results in defective Bruton tyrosine kinase signaling within CD19+ B cells; impaired B-cell maturation leads to low serum immunoglobulins and recurrent infections
allogenic hematopoietic stem cell transplantation resulting in a functioning donor hematopoietic stem cell
when a pt receives a bone marrow transplant, the donor stem cells engraft in the bone marrow and produce all the hematopoietic cells for the recipient; the recipient’s peripheral blood cells will be genetically different from the rest of the body’s cells; when the sex of the recipient and donor differ, peripheral blood cells will have sex chromosomes that do not match the pts birth sex
Insulin synthesis and secretion
proteins destined for the rough ER possess hydrophobic N-terminal peptide signal sequences that identify them as such; removal of these signal sequences would cause inappropriate protein accumulation in the cytosol
Sertoli cells
Androgen-binding protein is synthesized by the Sertoli cells of the seminiferous epithelium and secreted into the seminiferous tubule lumen; ABP maintains the high local concentration of testosterone necessary for normal sperm production and maturation
round ligament of the uterus
the round ligament of the uterus is a vestige of the gubernaculum; it projects from the uterus, travels through the inguinal canal and attaches to the labia majora
arterial blood gas in PE
sudden-onset SOB and chest pain in combination w unilateral leg swelling are strongly suggestive of PE; PE causes hypoxemia due to increased dead-space ventilation w worsening V/Q mismatch; hyperventilation leads to hypocapnia w respiratory alkalosis (increased pH, decreased PaCO2) which is the typical presentation of acute PE
