UWORLD Flashcards
Homozygous for the apoloprotein E-4 allele increases the risk for __________ disease?
Alzheimer’s disease
3 main mutations: 1. APP gene on chr 12, 2. Presenilin 1 gene on chr 14, 3. Presenilin 2 gene chr. 1
What are the signs and symptoms of acute adrenal insufficiency?
Cc: hypotension/shock, N & V, abdominal pain, weakness, fever
Rx: hydrocortisone or dexamethasone, high-flow IV fluids
What are the findings associated with hemolytic uremia syndrome?
Etiology:Shiga toxin-producing bacteria: shigella, e. Coli O157:H7
CC: antecedent diarrheal illness, hemolytic anemia with schistosomes, thrombocytopenia, acute kidney injury
— elevated serum indirect bilirubin
Patient’s urine sample show a repeatedly positive copper reduction test and a glucose oxidase dipstick testing is negative. What enzyme is deficient?
Fructokinase
If pt is asymptomatic the most likely diagnosis is essential fructosuria (AR)
What is the most common cause of the following lab findings?
PaO2: normal
% saturation (SaO2): normal
Oxygen content: low
Because the PaO2 and % saturation are both normal the total blood oxygen content is most likely secondary to lower hemoglobin concentration=> chronic blood loss
What cells response to infectious mononucleosis?
Activated CD8+ cytotoxic lymphocytes
What structures come from each of the pharyngeal pouches?
1- epithelium of middle ear and auditory tube
2-epithelium of palatine tonsil crypts
3- thymus, inferior parathyroid glands
4- superior parathyroid glands, ultimobranchial body
What skin lesion are associated with a p. Aeruginosa bacteremia in immunosuppressed patient?
Ecthyma gangrenosum
__________ _________ is when a host cell is coinfected wit h2 viral strains and progeny visions contain unchanged parental genome from one strain and nucleocapsid (or envelope) proteins from the other strains
Phenotypic mixing
What type of vaccination of given for Rubella?
Live attenuated rubella virus vaccine
5 yo boy, tall, thin habitus with elongated limbs, B/L lens subluxation. Dies at 9 from cerbrovascular accident- middle cerebral artery thrombosis and old renal infarcts. What supplement could have helped the boy?
Pt has homocystinuria ( inborn error of methionine metabolism)
—present with ectopic lent is (dislocated lens)
— Autosomal recessive deficiency of cystathioine beta-synthase, that requires pyridoxine vit V6
What parti of the brachial plexus is injured during a sudden upward jerking of the arm at the shoulder?
Lower trunk injury (C8-T1)=> median and ulnar n. Innervates all of the intrinsic muscles of the hand: lumbricals, interossei, Thenar, hypothenar
Klumke’s palsy
____________ should prompt evaluation for neuroblastoma?
Opsoclonus-myoclonus syndrome
—involuntary jerking movements of the trunk and limbs
Neuroblastoma present at <2 with a firm abdominal mass involving the adrenal gland and constitutional symptoms, periorbital ecchymoses, spinal cord compression from epidural invasion
Diagnostic findings: elevated catecholamine metabolites, small, round blue cells on Histology, n-Myc gene amplification
What methods could be used to achieve pregnancy in a pt with turner’s Syndrome
In vitro fertilization
_________ HLA is associated with abacavir hypersensitivity reaction?
HLA-B*57
Abacavir is a nucleoside reverse transcriptase inhibitor used in the treatment of HIV/AIDS
—delayed hypersensitive (type IV) characterized by fever, malaise, GI symptoms, and a delayed rash
Spinal cord shows symmetric myelin layer vacuolization and axonal degeneration involving the posterior columns and the lateral corticospinal tracts. What is the cause?
Vitamin B12 deficiency
Young child presents with oral candidiasis. PMHx for 3 episodes of otitis media and 2 episodes of bronchiolitis that have required hospitalization, and chronic loose stools. No thymic shadow. What is the Dx?
Sever combined immunodeficiency
Low or absent CD3+ T cells and hypogammglobulinemia
What structure is responsible for the following symptoms….headaches that are worse when lying down, 2 was early morning emesis, B/L papilledema, iability to gaze upwards and bilateral eyelid retraction.
A pineal mass
—obstructive hydrocephalus from aqueductal stenosis (headache, papilledema, vomiting) and dorsal midbrain (parinaud) Syndrome due to direct compression of the pretectal region of the midbrain
—also may have light-near dissociation
—most common pineal mass is a germinal, a malignant Timor thought to arise from embryonic germ cells
Describe a vitamin C deficiency
Seen in malnourished individuals—homeless, alcohol or drug abusers)
—decreased connective tissue strength, the capillary walls are especially fragile, leading to easy bruising, mucosal bleeding, and peri follicular petechial hemorrhage
—complications: pooring wound healing, periodontal disease, bony deformities, subperiosteal and joint hematomas
—Vit. C is used for the hydroxylation of proline and lysine in collagen synthesis
42 W presents cc dizziness, 6 months of a spinning sensation associated with N and ringing in her left ear, and difficulty hearing the phone on the left. Why and what disease?
Meniere- increased volume of endolymph in the inner ear
73 yo M cc blood in urine with no pain, dysuria, and urinary frequency. Cystoscope reveals a mass in the bladder, bx=malignancy. What would be the most important prognostic marker in this patient?
Involvement of the muscular layer
What e. Coli bacterial factor is responsible for fever, skin flushing, and altered level of consciousness, decreased BP 50/20 and RR 120
Lipid A-
Endotoxins are found in the outer membrane of gram-negative bacteria which is composed of LPS
—LPS is a long heat stable molecular arranged into 3 regions: O antigen, core polysaccharide and lipid A (septic shock)
What non-glucose monosaccharide can enter the glycolysis pathway by bypassing phosphofructokinase?
Fructose
Metabolism of Fructose:
1. Liver, phosphorylation by fructokinase to fructose-1 phosphate (F1P).
2. Aldolase B can use both F16P and F1p to convert them to DHAP and glyceraldehyde
3. DHAP is converted by triode phosphate isomerase to G3P which contiunies down the glycolytic pathway
What are some medication with negative chronotropic effects? And what are negative chronotropic effects
Negative Chronotropic effects: decrease RR
Beta-Adrenergic blockers: metoprolol, atenolol
Non-dihydropyridine calcium channel blocker: verapamil, diltiazem
Cardiac glycosides: digoxin
Amiodarone and sotalol
Cholinergic agonist: pilocarpine, rivastigmine
** non-dihydropydrine-type calcium and b-Adrenergic blocking agents can have addictive negative effects on heart rate
