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UWORLD
Overall review 4
| Question | Answer |
|---|---|
| What is the result of the systolic dysfunction in DCM? | Dilation of left ventricle cavity |
| What are common cardiac conditions associated with dilation of left the ventricle? | Ischemic heart disease, DCM, AR, and MR |
| What type of hypertrophy is seen with chronic volume overload of the heart? | Eccentric hypertrophy |
| What are the hemodynamic consequences of Eccentric hypertrophy? | Reduced ventricular contractility and decompensated heart failure |
| What is Glioblastoma? | An aggressive primary brain neoplasm that generally presents with slowly worsening headache, seizure, and/or focal neurological issues |
| Which growth factor is associated in oncogene mutation leading to Glioblastoma? | Epidermal Growth factor |
| What is the result of increased EGF receptor expression on glioblastoma cells? | Increased transduction of growth signals that promote cellular survival and proliferation |
| What is Charcot-Marie-Tooth disease? | Group of hereditary peripheral neuropathies characterized by mutations in genes coding for peripheral nerve axonal or myelin proteins |
| What is a group of conditions due to mutations to in genes that cause peripheral nerve axonal or myelin proteins? | Charcot-Marie-Tooth disease |
| What are some common and important clinical features of Charcot-Marie-Tooth disease? | Progressive, symmetric distal muscle atrophy, and, weakness most prominent in the feet and calf musculature, with sensory loss, areflexia, pes cavus (high arches), and hammer toes |
| What are some lower extremity features of Charcot-Marie-Tooth disease? | Weakness, sensory loss, areflexia, pes cavus, and hammer toes |
| What is the basic and most simple definition of emphysema? | Alveolar destruction and enlargement |
| How does Emphysema develops? | Combination of inflammation and leukocyte infiltration, increase protease activity & oxidative stress, in response to irritants such as cigarette exposrue |
| How are known the large spaces in severe Emphysema? | Subpleural blebs |
| At which anatomical part of the lung do Subpleural blebs in emphysema patients located? | Lung apices |
| What is a common finding at the lung apices of a patient with severe emphysema? | Subpleural blebs |
| What is the MCC of spontaneous lobar hemorrhage in the elderly? | Cerebral Amyloid angiopathy |
| Which brain lobes are most likely affected by Cerebral Amyloid angiopathy? | Occipital and Parietal lobes |
| Although rarely, if frontal lobe hemorrhage occurs, what is physical result? | Contralateral hemiparesis |
| What causes dynamic LVOT obstruction in Hypertrophic cardiomyopathy? | Abnormal systolic anterior motion of the anterior leaflet of the mitral valve towards a hypertrophied interventricular septum |
| What part of the heart anatomy is hypertrophied in HCM? | Interventricular septum |
| What are Ependymomas? | Originate from the ependymal cells that line the ventricular system and the central canal of the spinal cord |
| Which brain tumor is seen lining the ventricular system and central canal of the spinal cold? | Ependymoma |
| What is an important clinical consequence of a Ventricular Ependymoma? | Blockage of CSF flow through the interventricular foramina, leading to increased ICP due to obstructive hydrocephalus |
| What type of hydrocephalus is seen as consequence of a Ventricular Ependymoma? | Obstructive non-communicating hydrocephalus |
| A patient is seen with a Non-communicating hydrocephalus, ICP, and, and papilledema. Which brain tumor is possibly associated? | Ependymoma |
| What is Cytokeratin? | A commonly used immunohistochemical marker of epithelial cell carcinomas |
| What is Keratin? | Major protein component of hair and nails |
| What is a common marker used in epithelial cell carcinomas? | Cytokeratin |
| Protein found in hair and nails | Keratin |
| What is a Cerebral Palsy? | Non-progressive neurologic injury that most commonly presents with delayed gross motor milestones, spasticity, and hyperreflexia |
| What is Periventricular leukomalacia? | White matter necrosis |
| What is strongly associated and risk factor for Cerebral palsies to develop? | Prematurity |
| What is a common complication of Carotid Sinus hypersensitivity? | A common cause of syncope associated with tactile stimulation of the cardiac sinus (shaving) |
| What common activity may cause syncope in a patient with Carotid Sinus hypersensitivity? | Shaving |
| What causes syncope in Carotid Sinus hypersensitivity? | Exaggerated vagal response stimulated by the carotid baroreceptors, which lead to slow heart rate and marked peripheral vasodilation --> loss of cerebral perfusion |
| How is Testicular torsion presented? | Acute, severe, progressive unilateral scrotal pain |
| What are classic physical findings in Testicular torsion? | Scrotal edema and discoloration, a high-riding testicle, and absent cremasteric reflex |
| What reflex is absent in Testicular torsion? | Cremastic reflex |
| What is the diagnosis of a patient with scrotal edema, and no testicular elevation when stroking the ipsilateral thigh? | Testicular torsion |
| How is the Cremasteric reflex tested? | Stroking the ipsilateral thigh |
| What does the HER-2 oncogene encode? | Transmembrane glycoprotein with Intrinsic Tyrosine Kinase activity |
| What is an important oncogene associated with breast cancer is a member of the Epidermal Growth Factor (EGF)? | HER2 oncogene |
| What condition is often associated with "worst headache of my life"? | Subarachnoid hemorrhage |
| What is the MCC of SAH? | Rupture of Saccular (Berry) aneurysm or AV malformation |
| Which condition is associated with Berry aneurysms in the circle of Willis? | Berry aneurysms |
| Which pathway is activated by mutations to the KRAS gene? | EGFR pathway |
| What does an increase or stimulation of the the EGFR pathway provoke? | Increase cell proliferation and growth |
| What are some common anti-EGFR drugs? | Cetuximab and Panitumumab |
| Cetuximab and Panitumumab are: | Anti-EGFR drugs |
| A tumor with a known KRAS mutation, is often treated with: | Anti-EGFR drugs |
| What is PCP (pneumocystis pneumonia)? | Atypical fungal infection seen primarily in those with impaired cell-mediated immunity (advanced AIDS) |
| What are the CXR findings of PCP? | Bilateral interstitial infiltrates |
| What stain is used for PCP? | Silver stain of respiratory secretions |
| What is the most common sleep-related breathing disorder? | Obstructive Sleep Apnea (OSA) |
| What is the main pathological characteristic of OSA? | Recurrent obstruction of the upper airways |
| What is the pathogenesis of OSA? | Relaxation of the oropharyngeal and/or soft palate musculature during sleep results in a functional collapse of the airway |
| What is clinically characteristic of OSA? | Periods of reduced (hypopnea) or absent (apnea) airflow despite continued breathing efforts |
| What causes Stable angina? | Results from fixed coronary artery stenosis that limits blood flow to the myocardium, prevent the myocardial oxygen supply from increasing during exertion |
| What drug may be used to mimic the effects of "exercise"? | Dobutamine |
| Why is Dobutamine used to replace an actual stress test? | It provokes areas of ischemic myocardium, which are localized on imaging as areas of decreased contractility |
| Which cardiac chamber is the most protected against MI? | Right ventricle |
| Why is the RV the least affected by myocardial infarction and usually returns to normal function after MI? | Due to: - Relative small muscle mass with high capacity to increase oxygen extraction, perfusion throughout the cardiac cycle, and heightened ischemic preconditioning |
| What are the common clinical symptoms of Epididymitis? | Acute testicular pain, tenderness, and pyuria |
| What causes Epididymitis? | Retrograde passage of organisms from the urethra to the ejaculatory duct and vas deferens |
| What condition is due to pathogens traveling from the urethra to the ejaculatory duct and vas deferens? | Epididymitis |
| What is the most common organism causative of Epididymitis in patients younger than 35 years old? | Chlamydia trachomatis and N. gonorrhea |
| In a person older than 35 years old, what is the most common organism that causes Epididymitis? | Gram negative colonic flora |
| What are Acute Phase Reactants (ARPs)? | Proteins whose serum concentration changes at least or more 25% during periods on inflammation |
| What is an calcium-level associated ARP? | Procalcitonin |
| HOw is Procalcitonin a unique ARP? | It may rise or fall depending on the etiology of the function |
| Bacterial or Viral source. Increased Procalcitonin? | Bacterial source |
| Bacterial or Viral source. Decreased Procalcitonin? | Viral source |
| What are the two main types (categories) of Acute Phase reactants (ARPs)? | Positive ARPs and Negative ARPs |
| Positive or Negative ARP. Rise in times of inflammation? | Positive ARP |
| Fibrinogen, C-reactive protein, and haptoglobin are, positive ARPs or negative ARPs? | Positive ARP |
| What is a common indirect marker of positive ARPs? | Elevated ESR |
| Elevation in ESR, indicates possible increase in negative or positive ARPs? | Positive ARP |
| List of Positive ARPs | Fibrinogen, C-reactive protein, ferritin, hepcidin, ceruloplasmin, haptoglobin, vWF, and complement |
| Do negative ARP rise or fall in times of inflammation? | Fall |
| What are 3 common negative ARPs? | Albumin, transferrin, and transtheryn |
| What is possible the most known negative ARP? | Albumin |
| What cuses the fetal growth restriction and oligohydramnios in patients with Preeclampsia? | Abnormal placental spiral artery development |
| What are some hemodynamic consequences of abnormal Placental Spinal artery development in patients with Preeclampsia? | 1. Increased placental vascular resistance 2. Decreased utero-placental perfusion 3. Decreased umbilical vein oxygen delivery |
| Which artery fails to properly develop in preeclampsia patients that develop restrictive growth in fetus and oligohydramnios? | Placental Spinal artery |
| Umbilical vein or Umbilical artery. Delivers oxygen to the fetus? | Umbilical vein |
| What type of necrosis is seen in Myocardial infarction? | Coagulative necrosis |
| How much time after initial event (MI) is there LM evidence of coagulative necrosis ? | 4 hours after onset of MI |
| What type of leukocyte event is evident or present around 4 hours from initial MI? | Myocardial hypereosinophilia |
| What is the main pathogenic characteristic of ATN? | Tubular injury due to renal ischemia or direct cytotoxicity |
| What are common symptoms and signs seen in the recovery period of ATN? | GFR improves which improves tubular reabsorptive capacity, which is evident with transient polyuria and electrolyte wasting (hypokalemia) |
| Is the recovery period of ATN seen with transient hypo- or hyperkalemia? | Hypokalemia |
| Urticaria is IgE-, dependent or Independent mast cell degranulation? | IgE-independent |
| What are some common medication causing IgE-independent urticaria? | Opioids, radiocontrast agents, and some antibiotics (vancomycin) |
| What are common symptoms of IgE-independent mast cell degranulation due to allergic reaction? | Itching and pain, bronchospasm, and localized swelling (urticaria) |
| What is an Infantile hemangioma? | Benign vascular tumors composed of proliferating endothelial cells that most frequently affect the head and neck region |
| Which region of the body is most often affected by Infantile hemangiomas? | Head and neck region |
| What is the common subtype of children hemangioma? | Infantile hemangioma |
| What is 3 degree AV Block? | Involves dysfunction of the AV node, resulting in total lack of communication between the atria and ventricles |
| Which heart block is associated with total lack of communication between the atria and ventricles? | 3 AV block |
| What is the main pacemaker of the cardiac conduction? | SA node |
| What is the rate of the SA node? | 60-100 bpm |
| What are the secondary pacemakers of the heart when the SA node are blocked? | AV node and His bundle, but at a slower rate |
| What are the consequences of Left-sided Heart Failure? | Elevated pulmonary venous and capillary pressures, with resulting pulmonary edema and extravasation of RBCs into alveolar parenchyma |
| What is the name for the brown pigment in alveolar macrophages in patients with LHF? | Hemosiderin |
| What cardiac condition is seen with alveolar hemosiderin macrophages? | Left heart failure |
| How is Erythrocytosis defined? | Hematocrit level > 52% in men and > 48% in women |
| What measurement is necessary to distinguish between absolute to relative erythrocytosis? | RBC mass |
| An elevated hematocrit level with a normal RBC mass, indicates? | Plasma volume contraction as a the cause of polycythemia |
| What toxin exposure is associated with later development of Hepatocellular carcinoma? | Aflatoxin |
| What nucleic base change is seen with excessive dietary aflatoxin exposure? | G:C ---> T:A transversion |
| What condition is associated with G;C ---> T:A transversion? | Aflatoxin-induced Hepatocellular carcinoma |
| What gene is often associated in aflatoxin-induced HCC? | Codon 249 o the p53 gene |
| What areas of the world or natural setting would Aspergillus spps be found? | In humid and "moldy" areas, such as rural China |
| Common foods containing Aflatoxin? | Corn, soybeans, and peanuts, which produce aflatoxin as a byproduct |
| What is the MCC of Primary Hyperaldosteronism? | Excessive aldosterone secretion, typically as a result of bilateral nodular hyperplasia of the Z. glomerulosa or an aldosterone-producing adrenal adenoma |
| What type of neoplasm is often causative of Primary hyperaldosteronism? | Aldosterone-producing adrenal adenoma |
| What are the clinical features of Primary hyperaldosteronism? | Hypertension, low plasma renin activity, hypokalemia, and metabolic alkalosis |
| A patient with HTN, low plasma renin activity, low serum K+, and blood arterial gases indicate metabolic alkalosis. What is a possible diagnosis? | Primary hyperaldosteronism |
| What does cardiac tamponade involve? | Increased pericardial pressure that restrict diastolic filling of the Right-sided heart chambers, leading to obstructive shock with increased CVP and decreased SV and CO |
| Is CVP increased, decreased or unchanged in Cardiac tamponade? | Increased |
| Which hemodynamic parameters are decreased in Cardiac tamponade? | Stroke volume (SV) and Cardiac Output (CO) |
| What is the result of ongoing cardiac tamponade? | Diastolic pressures in all 4 chambers of the heart equalizes with pericardial pressure, leading to stagnant blood flow within the heart |
| What condition is seen with stagnant (static) blood flow within the heart due to equal chamber diastolic pressures? | Cardiac tamponade |
| What are the neuropathological features of Alzheimer disease? | Neurodegeneration, amyloid plaques, and neurofibrillary tangles |
| What neurodegenerative condition or illness is seen with Neurofibrillary tangles? | Alzheimer disease |
| What are neurofibrillary tangles? | Formed as tau, a protein with neuron microtubules, becomes hyperphosphorylated and dissociates from the microtubules to form paired helical filaments |
| Which is an important protein associated with the pathogenesis of Alzheimer disease? | Tau protein |
| What is the definition of Mitral Regurgitation? | Regurgitant (backflow) flow into the left atrium |
| What i the result of regurtiant blood flow in MR? | Left atrial pressure and increased Left-ventricular end-diastolic volume (presload) |
| Is Preload increased, decreased, or unchanged in severe MR? | Increased |
| Is left ventricular afterload increased or decreased in MR? | Decreased |
| Why is LV afterload decreased in MR? | Due to low-resistance regurtintan pathway |
| Is EF increased or decreased in MR? | Increased |
| What causes pulmonary edema and hypotension in the setting of MR? | Increased left atrial pressure leads to pulmonary edema, and decreased cardiac output to hypotension |
| Under normal conditions, what compensates for metabolic acidosis? | Respiratory alkalosis |
| What has happened in cases in which the steady-state of PaCO2 persists above the range of the Winter's formula in Metabolic alkalosis? | The patient has a superimposed respiratory acidosis (respiratory failure) |
| What are Cholesteatoma? | Collections of squamous cell debris that forms a mass behind the tympanic membrane |
| Squamous cell debris mass behind the tympanic membrane. | Cholesteatoma |
| What causes the hearing loss in a patient with Cholesteatoma? | Erosion into the auditory ossicles |
| What part of the adrenal gland is seen with hyperplasia in Primary hyperaldosteronism? | Zona glomerulosa |
| What is the common name for Debranching enzyme (alpha-1,6- glycosidic) deficiency? | Cori disease |
| What condition is due to a-1,60-glycosidic inability to be degraded by Debranching enzyme? | Cori disease |
| What are common signs and symptoms of Cori disease? | Hypoglycemia, ketoacidosis, hepatomegaly, and muscle weakness and hypotonia |
| What is accumulated in Cori disease? | Accumulation of glycogen with abnormality short outer chains (limit dextran) |
| What enzyme is the rate limiting step of PPP? | G6PD |
| Which metabolic process is rate limited by G6PD? | PPP |
| What is the function of G6PD? | Reducing GLUTATHIONE and for the biosynthesis of cholesterol, fatty acids, and steroids |
| What is reduced by G6PD? | Glutathione |
| Does G6PD reduce or oxides glutathione? | Reduce |
| What is the purpose of G6PD reduction of glutathione? | Protect RBCs from oxidative damage |
| Reducing refers (chemically) to: | Losing oxygen |
| Oxidation refers (chemically) to: | Gaining oxygen |
| Niacin is a precursor to: | NAD and NADP |
| What is the importance or relevance of NAD and NADP? | Important cofactors for many dehydrogenase and reductase enzymes |
| What condition is due to Niacin deficiency? | Pellagra |
| What are the main symptoms of Pellagra? | Diarrhea, dementia, and dermatitis |
| NAD and NADP are made from which vitamin? | Niacin |
| What is the result of sarcoplasmic calcium release following neuromuscular stimulation in skeletal muscle (exercise)? | Synchronization of glycogen degradation with skeletal muscle contraction |
| What is the result of increased intracellular Calcium (Ca2+) in physical exercise? | Activation of Phosphorylase kinase, stimulating glycogen phosphorylase to increase glycogenolysis |
| What is the role of Telomeres? | Maintain chromosomal integrity and are preserved in rapidly dividing cell lines by telomerase |
| What are common rapidly dividing cells? | Epithelial cells, lymphocytes, hematopoietic stem cells |
| What are common mucocutaneous changes seen with aging due to telomere dysfunction? | Oral leukoplakia and dystrophic nails |
| What are clinical features due to telomere dysfunction conditions? | Mucocutaneous changes, bone marrow failure, and pulmonary fibrosis |
| How do cancer cells alter the expression of genes, thus controlling survival and replication of cells? | Histone modification, transcription factor expression, and CpG-methylation |
| What is the result of methylation of the CpG region in cancer? | Produces and enzyme that repairs DNA, , thus making cancer cell more susceptible to alkylating chemotherapy |
| What is nondisjunction? | Failure of chromosome pairs to separate properly during cell division |
| Meiosis I or Meiosis II. Failure of homologous chromosomes to separate? | Meiosis I nondisjunction |
| Meosi I or Moeois II. Failure of sister chromatids to separate | Meiosis II or mitosis |
| Nondisjunction leading to Down syndrome occurs in which Meiosis, I or II? | Meiosis I |
| Which important trisomy is due to nondisjunction during Meiosis I? | Down syndrome |
| What is the mode of inheritance of Sickle cell anemia? | Autosomal recessive |
| What is the clinical profile of Sickle Cell anemia? | Recurrent episodes of anemia, jaundice, and painful swelling of the hands and feet |
| What is the chance (in percentage) of an offspring to be affected by SCD with two carrier parents? | 25% |
| What is the percentage of an offspring to be heterozygous of a AR disease with carrier parents? | 50% |
| What is the overall percentage (chance) of an offspring to inherit at least one (1) mutant allele, from an AR disorder, such as Sickle cell anemia, if the patient has 2 carrier parents? | 75% |
| What is the poly-A tail? | Multiple adenosine monophosphates; in other words, it is a stretch of RNA that has only adenine bases |
| What cellular modification structure is composed of multiple (purely) adenosine monophosphate? | Poly-A tail |
| Is the poly-A tail transcribed? | NO, it is not transcribed from DNA |
| What is the role of function of the Poly-A tail? | It is added as a post-transcriptional modification downstream of the consensus sequence (AAUAAA) located near the 3'-end of the mRNA molecule |
| At which end of the mRNA is the poly-A tail added? | 3'-end of the mRNA molecule |
| What is the overall role of the poly-A tail? | Protects mRNA degradation within the cytoplasm after it exits the nucleus |
| What action or modification or alteration protects mRNA degradation in the cytoplasm after leaving the nucleus? | Addition of the poly-A tail at the 3'-end of the mRNA |
| What is Alternative splicing? | Process by which a single gene can code varius unique proteins by selectively inclusion or exclusion different DNA coding regions (exons) into mature mRNA |
| Which type of splicing removes or "cuts out" all exons? | RNA splicing |
| A combination of exons and some splicing is referred as: | Alternative splicing |
| What is the nucleolus? | Dense body visible by LM and EM, that functions as the primary site of ribosome synthesis and assembly |
| Which is the only ribosomal RNA that is NOT transcribed in the nucleolus? | 5S rRNA |
| What is unique about 5S rRNA? | It is the only ribosomal RNA (rRNA) that is not transcribed in the nucleolus |
| What direction is the translation of mRNA template? | 5' to 3' direction |
| What is the direction of translation of tRNA anticodons? | 3' to 5' direction |
| Why do complementary tRNA anticodon sequences translate mRNA in the 3' to 5' direction? | Complementary sequences aling antiparallel fashion to the template codon sequence |
| What are the 3 stop codons? | UAA, UAG, and UGA |
| UAA | Stop codon |
| UAG | Stop codon |
| UGA | Stop codon |
| How do Stop codons work? | Halt protein synthesis by binding a release factor |
| What is a characteristic in the overall process of protein synthesis regarding stop codons? | They do not add amino acids to the polypeptide chain |
| Halt protein synthesis by binding to a release factor | Stop codon |
| What is a common cause of bloody diarrhea and often leads to HUS? | E. coli O157; H7 infection |
| What is particular of E. coli O157;H7 pathogen? | Unable to ferment sorbitol and does not produce glucuronidase |
| What is the relation of Retinoblastoma protein and HPV? | Inactivation of Rb protein activity by HPV can lead to head and neck squamous cell carcinoma |
| What is the first mutation in the development of colon cancer? | Mutation of the APC tumor suppressor gene |
| What is the most common mutation in the development of spontaneous colon adenocarcinoma and FAP? | Mutation of the APC tumor suppressor gene |
| What is a neoplastic characteristic of the Microsatellite instability pathway? | Mutations in DNA mismatch repair genes and it is implicated in development of HNPCC (Lynch syndrome) |
| Lynch syndrome is due to a mutation of: | DNA mismatch repair genes |
| What tumor suppressor gene is involved in the final step of development of Colon adenocarcinoma? | TP53 tumor suppressor gene |
| What is the the Ubiquitin Proteasome pathway? | A process to destroy or degrade defective proteins by proteasomes and tagged with Ubiquitin |
| What enzyme (protein) is the first to act in the Ubiquitin Proteasome pathway? | Ubiquitin ligase, which recognizes specific protein substrates and attach a ubiquitin tag |
| Which MHC is involved in degrading Ubiquitin tagged proteins? | MHC I |
| Ubiquitin-tagged degradation proteins are presented to which type of T cells? | Cytotoxic CD8+ T lymphocytes |
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rakomi
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