High Yields Week 1 Flashcards
Describe the absorption of glucose in the kidney in states of NORMAL serum glucose and HIGH serum glucose
Normal serum glucose = completely reabsorbed
High serum glucose = some glucose excreted in urine
The complete or partial loss of an X chromosome in Turner syndrome results from what genetic abnormality?
Paternal meiotic nondisjunction
What is the most common cause of sporadic encephalitis?
HSV-1
Chromaffin cells of the adrenal medulla and parafollicular C cells of the thyroid arise from what embryonic tissue and layer?
Neural crest tissue from the Ectoderm
Prostatectomy (accidental nerve severing) or injury to the prostatic plexus can cause what consequence?
Erectile Dysfunction
What is the most common non-nuclear DNA found in eukaryotic cells?
Mitochondrial DNA (mtDNA)
- small circular DNA resembling a bacterial chromosome
- maternal mtDNA is passed down from the mother to all of her offspring
What are the 3 most important predisposing factors for hypoglycemia in patients with Type 1 Diabetes Mellitus?
- Excessive insulin dose
- Inadequate food intake
- Exercise/physical activity (muscle contractions also cause glucose uptake by muscle cells via GLUT4)
What is Conversion Disorder?
Conversion disorder is characterized by neurological symptoms (voluntary motor and sensory deficits) that cannot be explained by another medical or mental disorder.
Neural tube defects occur during the 4th week of fetal development and can be detected by what diagnostic markers?
↑ a-fetoprotein (AFP) in maternal serum
↑ acetylcholinesterase (AChE) in amniotic fluid
These appear due to leakage of fetal CSF through the neural tube defect.
Clinical presentation and seromarker associations for ankylosing spondylitis
Young men Morning stiffness, low back pain Tender sacroiliac joints NO rheumatoid factor Associated with HLA-B27 (MHC Class I)
List the conduction speed of the following cardiac tissue from fastest to slowest: Ventricular muscle, Atrial muscle, AV node, Purkinje fibers
Purkinje fibers (fastest)
Atrial muscle
Ventricular muscle
AV node
Cleft lip results from failure of what intrauterine process?
Cleft results when the MAXILLARY prominence fails to fuse with the intermaxillary segment during the 5th-6th week of embryonic development.
Prevention of reinfection with a similar strain of influenza virus can be attributed to antibodies against what influenza viral antigen?
Hemagglutinin (promotes viral entry)
A humoral response with antibodies directed against hemagglutinin is generally the most important source of protection (this goes for the vaccine as well).
Universal Start Codon
AUG
Stop Codons
UGA
UAG
UAA
(U Go Away, U Are Gone, U Are Away)
What does right dominant coronary circulation mean?
It means the right coronary artery gives rise to the posterior descending artery (inferior wall of heart)
85-90% of people have right dominant coronary circulation
Clinical features and pathophysiology of hypercalcemia
Muscle weakness, constipation, mental status changes, increased thirst and urination
Hypercalcemia causes impaired depolarization of neuromuscular membranes (neuro/muscular symptoms) and impaired concentration of urine in the distal tubule (urination/thirst)
Dry beriberi vs. Wet beriberi
Dry beriberi - symmetrical peripheral neuropathy (sensory and motor impairments)
Wet berberi - high-output congestive heart failure (dilated cardiomyopathy, peripheral edema, etc.)
Beriberi (dry and wet) is caused by thiamine (B1) deficiency.
What is the embryologic origin of melanocytes?
Neural crest cells
Patient presents with fever, fatigue, anorexia, tachycardia, tachypnea, hypotension and a new holosystolic murmur. Disease/Dx?
Acute rheumatic fever resulting from an untreated Group A Strep infection.
- Early lesion is mitral valve regurgitation
- Aschoff body may be seen on cardiac biopsy
- (Latel lesion is mitral stenosis)
What fungus produces thin, septate hyphae with acute angle V-shaped branches?
Aspergillus fumigatus
Maple syrup urine disease results from the defective breakdown of branched chain amino acids because of a defective branched chain a-ketoacid dehydrogenase complex. What five cofactors are required for proper function of this enzyme complex?
Thiamine Lipoate Coenzyme A FAD NAD (Tender Loving Care For Nancy)
5 year old child presents with palpable purpura, abdominal pain, arthralgias and hematuria a week following upper respiratory infection. Disease/Dx?
Henoch-Schonlein purpura (IgA immune-complex mediated vasculitis)
What two factors play an important role in osteoclast differentiation?
Macrophage colony-stimulating factor (M-CSF) and activated nuclear factor kappa-B ligand (RANK-L)
Both M-CSF and RANK-L are produced by osteoblasts and bone marrow stromal cells
Define Pleiotropy
Pleiotropy describes instances in which multiple phenotypic manifestations (‘symptoms’) result from a single genetic mutation
- most genetic illnesses exhibit pleiotropy
- TLDR - pleiotropy is where a single gene mutation fucks a lot of shit up
What type of immune response do inactivated (killed) vaccines invoke (B cell/T cell)? Live-attenuated vaccines?
Inactive (killed) vaccines - B cell (humoral) response ONLY
Live-attenuated vaccines - T cell (cellular) AND B cell response
What causes infertility in cystic fibrosis?
Infertility is due to absent vas deferens bilaterally (azoospermia)
In metabolic acidosis, urinary pH decreases due to increased excretion of what substances?
H+, NH4+, H2PO4-
What embryologic dysfunction causes a patent foramen ovale?
Incomplete fusion of atrial septum primum and secundum
A patent foramen ovale can result in a very rare cryptogenic stroke in which an embolus of venous origin can travel through the heart defect into systemic circulation up into the brain.
What do RNA polymerase I, II and III produce?
RNA polymerase I - ribosomal RNA (rRNA -> in the nucleolus)
RNA polymerase II - messenger RNA (mRNA)
RNA polymerase III - transfer RNA (tRNA)
Where are T3 and reverse T3 (rT3) derived from?
T3 (active form) - small amount release from thyroid gland but the majority of T3 arises from T4 conversion to T3 in peripheral tissues.
reverse T3 (inactive form) - generated almost entirely from peripheral conversion of T4
T4 is the major secretory product of the thyroid gland
What enzyme deficiency can cause severe combined immunodeficiency (SCID)?
Adenosine deaminase deficiency
Adenosine accumulation is toxic to lymphocytes leading to widespread death of T and B lymphocytes
What is the most common site of injury in a traumatic aortic rupture (car accident)?
Aortic Isthmus (located right as the aorta begins its descent to the abdomen, 2 o’clock position)
What physiologic function compensates for moderate central venous pressure increases, (due to mildly decreased cardiac function) thereby preventing peripheral edema?
Increased tissue lymphatic drainage
What effect does deacetylation of histones have on gene expression?
Deacetylating histones INHIBITS gene expression.
-causes chromatin to tightly shut, disabling transcription
(acetylating histones would increase gene expression)
5 y/o girl presents with neurologic abnormalities, partial albinism and immunodefiency. Peripheral blood smear shows giant cytoplasmic granules in neutrophils and monocytes. Disease/Dx?
Chediak-Higashi syndrome
Autosomal recessive disorder causing defect in neutrophil phagosome lysosome fusion
What serum biomarker reflects osteoblastic activity?
Bone-specific alkaline phosphatase
Patient presents with pneumonia, low platelet count, fatigue, myalgias and retroorbital headaches. History reveals frequent exposure to animal waste product. What is the causative organism?
Coxiella burnetti (causes Q fever)
What is a paradoxical embolism?
Occurs when a thrombus from the VENOUS system crosses into arterial circulation via an abnormal connection between the right and left cardiac chambers (patent foramen ovale, atrial septal defect, ventricular septal defect)
What is kinesin?
Kinesin is a microtubule-associated, ATP-powered motor protein that facilitates the anterograde transport of neurotransmitter-containing secretory vesicles down axons to synaptic terminals.
TLDR - carries vesicles down axons for release at synaptic terminals
What are the pressures (mmHg) of the airways, alveoli and intrapleural space at the FRC (functional residual capacity)?
Airways - 0 mmHg
Alveoli - 0 mmHg
Intrapleural space - always negative (~-5 mmHg)
What is the most common mutation causing cystic fibrosis and its pathogenesis?
3-base pair deletion at Phe508
Causes abnormal posttranslational processing causing abnormal folding of CFTR protein. Abnormal CFTR is targeted for proteasomal degradation, preventing it from reaching cell membrane.
What are the two physiologic etiologies of polyhydramnios?
Decreased fetal swallowing (gastrointestinal obstruction or anencephaly)
Increased fetal urination (↑ cardiac output due to anemia or TTTS)
What is the name of the sound on cardiac auscultation that immediately precedes the first heart sound?
S4 heart sound (hypertrophic cardiomyopathy)
What treatment should be considered in severe asthmatics that are not responsive to short/long-acting beta agonists or oral corticosteroids?
Anti-IgE antibodies (Omalizumab)
What type of cell junctions exist at the blood-brain barrier?
Tight junctions
The BBB is formed by tight junctions between nonfenestrated capillary endothelial cells that prevent the paracellular passage of fluid and solutes
-lipid soluble diffusion or carrier-mediated transport only
Where in the nephron of the kidney is the majority of water reabsorbed?
Proximal tubule ( > 60% of H20)
What is the most common cause of viral meningitis?
Enteroviruses (coxsackie, echovirus, polio, etc)
- normal glucose (CSF)
- marginally elevated proteins (CSF)
What type of collagen is present in scar tissue?
Type I Collagen
- Can be seen following fibrosis of an infarcted organ (for example)
- Most prevalent collagen in the human body
What are the diagnostic markers for diabetes mellitus?
fasting glucose > 126 mg/dL
random glucose > 200 mg/dL
hemoglobin A1c > 6.5%
Given phenotypically normal parents, what is the probability that a female sibling of a male affected by an X-linked recessive disease will give birth to an affected child?
1/8
What is factitious disorder?
A psychological disorder in which the patient consciously creates physical and/or psychological symptoms in order to assume ‘sick role’ and get medical attention.
TLDR - they hurt themselves for attention
What cells contribute to the pathogenesis of centriacinar emphysema (associated with smoking)?
Alveolar macrophages and infiltrating neutrophils
-these inflammatory cells release proteases
The superantigenic property of toxic shock syndrome toxin (from Staph aureus) results in activation of what immunologic cells?
CD4+ T cells and macrophages
Mature erythrocytes cannot synthesize heme because they lack what cellular organelle?
Mitochondria
Mitochondria are necessary for the first and final 3 steps of heme synthesis
What complications can arise from atrial fibrillation in a patient with severe aortic stenosis?
Atrial fibrillation leads to decreased atrial contraction -> decreased LV filling -> decreased preload -> decreased CO (on top of ↓ CO from aortic stenosis) -> backup of blood into pulmonary veins -> pulmonary edema
Define sensitivity
Sensitivity is the probability of a POSITIVE test result in a person who actually has the disease
It is important to have high sensitivity in screening tests
t(15;17)
Acute Promyelocytic Leukemia (APML)
- involves translocation of retinoic acid receptor
- inhibits differentiation of myeloblasts into mature granulocytes
- symptoms - anemia, thrombocytopenia, neutropenia, DIC
- treatment - All-trans retinoic acid
What precursor amino acid is required for the synthesis of Nitric Oxide?
Arginine
Th2 helper cells stimulate B cell antibody production. What lymphokines released by Th2 cells promote B cell class-switching to IgE?
IL-4 and IL-13 promote IgE production
An immunosuppressed patient with meningitis has a lumbar puncture. CSF fluid shows gram-positive rods with tumbling motility. What is the causative organism?
Listeria monocytogenes
-typically from food poisoning (unpasteurized milk)
Is rabies virus vaccine live attenuated or inactive (killed)?
Rabies virus vaccine is INACTIVE (killed)
-B cell humoral response only
Mutation of the ApoE4 gene is responsible for what disease?
LATE-onset familial Alzheimer disease
What enzyme deficiency is present in chronic granulomatous disease?
NADPH oxidase deficiency
(Deficiency of this enzyme leads to an inability of neutrophils to form the oxidative burst necessary to kill organisms in phagolysosomes)
Rubbing a person’s neck in an attempt to slow down their heart rate is stimulating what structure and nerve?
This action is stimulating baroreceptors in the carotid sinus
Parasympathetic impulses from this carotid sinus reflex travel to the medullary centers via the glossopharyngeal nerve
This carotid sinus reflex eventually results in a signal carried to the heart via the vagus nerve resulting in decreased CO and SVR (BP)
What embryonic structure does the thymus arise from?
3rd pharyngeal (branchial) pouch
What embryonic structure does the parathyroid gland arise from?
3rd and 4th pharyngeal (branchial) pouches
Patient presents with double vision (diplopia) that is worse when walking down stairs or reading. Does not affect vision when walking up stairs. Disease/Dx?
Trochlear nerve (CN IV) palsy
- innervates the superior oblique m., which causes the eye to internally rotate and depress (looks in and down)
- hence the patient has trouble walking down stairs while looking down
What cephalosporins should be used to treat Pseudomonas aeruginosa?
Ceftazidime (3rd gen) or Cefepime(4th gen)
Vitamin B12 deficiency is associated with which two elevated serum markers?
Elevated homocysteine AND methylmalonic acid
Patient presents with nocturnal palpitations, head pounding with exertion, involuntary head bobbing and widened pulse pressures. Disease/Dx?
Aortic regurgitation
widened pulse pressure/head bobbing is particularly helpful
What does a Northern blot detect?
mRNA
What does a Southern blot detect?
DNA sequences
What does a Western blot detect?
Protein
What does a Southwestern blot detect?
DNA-binding proteins
What are the crescent formations seen in RPGN actually composed?
Notably - Fibrin deposits
Crescents consist of glomerular parietal cells, monocytes, macrophages, as well as abundant fibrin
What ion flows into the cells during Phase 0 in cardiac pacemaker cells? cardiomyocytes?
Cardiac Pacemaker Cells - Calcium (Ca2+) influx (slow)
Cardiomyocytes - Sodium (Na+) influx (fast)
In a normal (bell-shaped/Gaussian) distribution, what percentage of observations lie within 1 SD? 2 SD? 3 SD?
68/95/99 rule
1 Standard Dev - 68%
2 Standard Dev - 95%
3 Standard Dev - 99%
Note, 68% encompasses a total from both sides of the mean
What gene mutation is associated with achondroplasia (dwarfism) and what is its inheritance pattern?
Gain-of-function mutation in FGFR3
Autosomal Dominant
What region of lymph nodes do T lymphocytes reside?
Paracortex
What region of the lymph nodes do B lymphocytes reside?
(cortical) Follicles
What artery supplies the distal 1/3 of the transverse colon, descending colon, sigmoid colon and rectum?
Inferior Mesenteric Artery
What is adenomyosis?
The presence of endometrial glandular tissue within the myometrium
(heavy menstrual bleeding and uniformly enlarged uterus are common clinical findings)
Which two major arterial beds are the most susceptible to atherosclerosis?
Coronary arteries and lower abdominal aorta
Down syndrome is associated with increased risk of what leukemias?
Acute lymphoblastic leukemia (10-20x ↑ risk)
Acute myelogenous leukemia
What is the wobble hypothesis (relating to protein translation)?
The first 2 nucleotide positions on the mRNA codon require traditional base pairing, but the third “wobble” nucleotide position may undergo less stringent base pairing
(this fits into concept of ‘degenerate’ genetic code in that multiple codes exist for 1 amino acid)
What is a Krukenberg tumor?
A gastric tumor that has metastasized to the ovary
- presents with unintentional wt loss, epigastric pain and adnexal masses
- will appear as mucin-secreting signet cells
Graft-versus-host-disease can occur after transplantation of what organs?
Allogeneic bone marrow transplantation
-donor bone marrow makes leukocytes that target host tissue
Organs rich in lymphocytes (liver)
-immunocompetent donor T cells from the graft survive and migrate into host tissues
Valproate is an anti-seizure drug that is teratogenic. What type of birth defects occur from valproate?
Neural tube defects (such as meningocele)
Patient biopsy reveals thickened bronchial walls, lymphocytic infiltration, mucous gland enlargement and patchy squamous metaplasia of the bronchial mucosa. What disease process did this patient die from?
Chronic bronchitis - likely due to lifelong cigarette smoking
Do the majority of Down syndrome cases arise from nondisjunction during maternal meiosis I or meiosis II?
Meiosis I
What is nondisjunction?
The failure of chromosome pairs to separate properly during cell division
What regions of the body does HPV infect?
Anus, vagina, cervix, true vocal cords (infants)
HPV ‘prefers’ stratified squamous epithelium
What is another name for B cell class switching?
Isotype switching
IgM, IgG, etc. are different heavy chain isotypes
When is myocardial perfusion the greatest?
Diastole
During diastole, the intraventricular pressure is lower than the aortic pressure, allowing for coronary perfusion
Why is the Haemophilus influenzae vaccine conjugated with tetanus toxoid (similar to S. pneumoniae vaccine)?
To elicit a T cell-dependent immune response
(B cell response from H flu vaccine is not effective in small children who have not developed a mature humoral immune system)
Patient presents with recent onset fatigue and dyspnea. Pt has hypotension, tachycardia and distended jugular veins. Heart sounds are muffled on auscultation and pulse becomes undetectable during inspiration. Disease/Dx?
Cardiac Tamponade
Beck’s Triad (acute tamponade)
- hypotension
- distended neck veins (JVD)
- muffled heart sounds
What is the inheritance pattern of neurofibromatosis type 1 (NF1)?
Autosomal dominant
What vitamin supplement is given during (and before) pregnancy to prevent neural tube defects?
Folic acid supplementation
Where are serotonin-releasing neurons of the CNS located?
Raphe nuclei
Which transmembrane glucose transport protein is responsive to insulin and what type of cells are these glucose transporters predominantly found in?
GLUT-4 is responsive to insulin
GLUT-4 transport proteins are found in skeletal muscle cells and adipocytes
After what period of time does myocardial ischemia cause permanent damage to cardiomyocytes?
30 minutes
After 30 minutes of ischemia, ischemic injury to cardiomyocytes becomes irreversible and they forever lose function
Proteases (such as elastase) in alveolar fluid are derived from what cells?
Alveolar macrophages and infiltrating neutrophils
In statistics, what is power?
Power (1 - Beta) is the probability of rejecting a null hypothesis when it is truly false
(a study’s ability to detect a difference when one actually exists)