Pathology exam 1-2
Terms
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- A hydropic change (swelling) is reversible/irreversible
- reversible
- Plasma membrane rupturing and nuclear changes are reversible/irreversible
- irreversible
- Condensation of chromatin. Pyknosis, Karyolysis, or Karyorrhexis
- Pyknosis
- Lysis of chromatin. Pyknosis, Karyolysis, or Karyorrhexis
- Karyolysis
- Fragmentation of nuclear material. Pyknosis, Karyolysis, or Karyorrhexis
- Karyorrhexis
- ________ Necrosis the most common type, outline of tissue preserved (MI, kidney infarcts)
- Coagulative
- ________ Necrosis - brain infarcts, abscess, wet gangrene
- Liquefactive
- ________ Necrosis - Granulomas of TB/deep fungal
- Caseous
- ________ Necrosis - found w/ acute pancreatitis or trauma to fat
- Fat
- ________ Necrosis - Small vessels; Systemic Lupus
- Fibrinoid
- Programmed cell , involves gene activation & enzyme action. NO significant inflammation
- Apoptosis
- Results from cell injury or chronic stress. Is reversible.
- Adaptation
- Increase in tissue/oragn size due to increase in cell size (Hypertrophy, Hyperplasia, Metaplasia, Atrophy, or Dysplasia)
- Hypertrophy
- Increase in tissue/organ size due to increase in number of cells (Hypertrophy, Hyperplasia, Metaplasia, Atrophy, or Dysplasia)
- Hyperplasia
- replacement of one mature cell type by another - Barrett's esophagus - reversible in most cases (Hypertrophy, Hyperplasia, Metaplasia, Atrophy, or Dysplasia)
- Metaplasia
- Decrease in tissue/organ size because of a reduction in the size or number of cells. (Hypertrophy, Hyperplasia, Metaplasia, Atrophy, or Dysplasia)
- Atrophy
- Abnormal cells that are not cancer. (Hypertrophy, Hyperplasia, Metaplasia, Atrophy, or Dysplasia)
- Dysplasia
- Mediated by neutophils, hemodynamic changes, increased permeability of vessel walls, & emigration of leukocytes from vessels into tissues
- Acute inflammation
- Clear, protein poor, relatively acellular liquid - seen in renal and heart failure (low protein; spec. gravity < 1.02)
- Transudate
- Viscous, protein rich, seen in pus (high protein; spec. gravity > 1.02)
- Exudate
- Severe generalized swelling of all subcutaneous tissues (cirrhosis or nephrotic syndrome)
- Anasarca
- Edema in peritoneal cavity (end stage liver disease)
- Ascites
- List in order the main events of PMNs crossin out of a vessel (adhesion, margination, transmigration, rolling)
- 1) Margination, 2) Rolling, 3) Adhesion, 4) Transmigration
- Which mediator of inflammation is NOT plasma derived: Nitric Acid, clotting factors, anticoagulants, compliment protiens, kinins
- Nitric Acid
- Which mediator of inflammation is NOT cell derived: Biogenic Amines, Arachidonic acid & derivatives, Cytokines, Kinins, Platlet activating factors, Nitric Acid
- Kinins
- Hageman, thrombin & fibrinogen are ___________ (clotting factors, anticoagulants, compliment protiens, kinins)
- clotting factors
- Plasmin is ________: (clotting factors, anticoagulants, compliment protiens, kinins)
- anticoagulants
- Bradykinin is ________: (clotting factors, anticoagulants, compliment protiens, kinins)
- kinins
- Histamine & seratonin are ___________ (released from mast cells & platlets): (Biogenic Amines, Arachidonic acid & derivatives, Cytokines, Platlet activating factors, Nitric Acid)
- Biogenic Amines
- Prostaglandins & leukotrienes are derivatives of ________: (Biogenic Amines, Arachidonic acid, Cytokines, Platlet activating factors, Nitric Acid)
- Arachidonic acid
- ________ is produced from endothelial cells & macrophages: (Biogenic Amines, Arachidonic acid, Cytokines, Platlet activating factors, Nitric Acid)
- Nitric Acid
- 2 Mediators that cause vasodialation. (prostaglandins, histamine, bradykinin, platlet activating factor, NO, leukotrines)
- prostaglandins, NO
- 4 Mediators causing increased vascular permeability. (prostaglandins, histamine, bradykinin, platlet activating factor, interleukins, leukotrines)
- histamine, bradykinin, platlet activating factor, leukotrines
- 3 Mediators involved w/ chemotaxis. (C5a, C3b leukotriene B4, interleukins)
- C5a, leukotriene B4, interleukins (C3b - tags the cells for phagocytosis)
- 2 Mediators causing pain. (prostaglandins, histamine, bradykinin)
- prostaglandins, bradykinin
- 3 Mediators involved w/ phagocytosis (Neutrophils, plasma cells, eosinophils, macrophages)
- Neutrophils, eosinophils, macrophages
- The 2 different activation pathways of compliment
- Classical pathway (Ant-Ab), Alternative (fragment of fungi, bact, toxins, foreign substances)
- 4 functions of compliment activiation. (opsonization of bacteria, anaphylatoxic action, chemotaxis, increase in hypertension, cytolysis)
- opsonization of bacteria, anaphylatoxic action, chemotaxis, cytolysis
- Coating w/ IgG & C3b is what function of compliment? (opsonization of bacteria, anaphylatoxic action, chemotaxis, cytolysis)
- opsonization of bacteria
- Stimulating release of histamine is what funciton of compliment? (opsonization of bacteria, anaphylatoxic action, chemotaxis, cytolysis)
- anaphylatoxic action
- C5a attracts neutrophils is what function of compliment? (opsonization of bacteria, anaphylatoxic action, chemotaxis, cytolysis)
- chemotaxis
- MAC complex relates to what function of compliment? (opsonization of bacteria, anaphylatoxic action, chemotaxis, cytolysis)
- cytolysis
- List the primary healing sequence in order (restructuring, scarring, bleeding & clot formation, inflammation, granulation tissue)
- 1) bleeding & clot formation, 2) inflammation, 3) granulation tissue, 4) scarring, 5) restructuring
- Hypertrophic scar composed of type 3 collagen (result from defective remodeling of scar tissue.
- Keloid
- what cell type cannot regenerate -i.e. neurons, striated muscle, myocardium? (Permanent, Labile, Stable)
- Permanent
- what cell type can readily regenerate -i.e. skin, mucosa? (Permanent, Labile, Stable)
- Labile
- what cell type can also regenerate -i.e. liver or kidney? (Permanent, Labile, Stable)
- Stable
- Which is not a main cause of edema? (Increased intravascular/hydorstatic pressure, increased permiability of vessel wall, increased oncotic pressure/increased albumin, decreased oncotic pressure/reduced albumin, sodium retention, obstruction of lymph flo
- increased oncotic pressure/increased albumin
- reduced perfusion of kidneys (i.e. heart failure) --> renin secretion --> inc _______ from adrenal cortex --> kidney retains more ____ --> water retention --> inc hydrostatic pressure & edema.
- aldosterone, sodium
- Active process, influx into tissues, bright red & warm (Congestion or Hyperemia)?
- Hyperemia
- Passive process-stasis, tissue is dusky red to blue, tissues are cold & clammy (Congestion or Hyperemia)?
- Congestion
- ______ _____: chronic passive congestion results in pooling & necrosis of hepatocytes. (red-brown) These hepatocytes are replaced by fibrous tissue - uncongested areas appear pale tan
- Nutmeg liver
- The 3 main components of Hemostasis are: (compliment, vascular wall, platlets, coagulation cascade)
- compliment
- Primary hemostasis involves which 3: (platelet adhesion & shape change, secretion of granules by platelets, recruitment & aggregation to form hemostatic plug, activation of the coagulation cascade)
- platelet adhesion & shape change, secretion of granules by platelets, recruitment & aggregation to form hemostatic plug (activation of the coagulation cascade is involved in secondary hemostasis)
- Mediator of platelet adhesion to subendothelial collagen in primary hemostasis
- Secondary hemostasis involves the activation of the coagulation cascade (T/F)
- TRUE
- Virchow's triad are factors predisposing to heart failure (T/F)
- FALSE they are predisposing to thrombosis
- Which one does NOT belong in Virchow's triad? Endothelial injury, Alteration of flow (stasis or turbulance), Hypocoagulability, Hypercoagulability
- Hypocoagulability
- Which is NOT a fate of a thrombus? Resolution, Translocation, Propagation & eventual occlusion, Organization, Recanalization, Embolization
- Translocation
- Venous emboli originates in the deep leg veins and goes to the _____
- lungs
- _____ usually arise in the deep veins of the leg, often multiple, may cause pulmonary hypertension/right sided heart failure over time
- Pulmonary (I think this is the same as a venous emboli)
- ______ emboli originate in areas of high BP (heart, aorta, or large arteries) and go to various organs (most to lower extremities, 10% to brain)
- Arterial
- laminated appearance that is characteristic of thrombi
- lines of Zahn
- ____ emboli occur w/ fracture of long bones
- Fat
- left sided emboli originating in venous circulation, but gains access to arterial circulation through patent foramen ovale or atrial-septal defect
- Paradoxical emboli
- Infarct w/ atrial occlusions to solid organs (heart, liver, spleen), wedge shaped w/ occluded vessel at apex.
- Pale infarct
- Infarct in loose tissues (lung) or tissues w/ dual circulation
- Red infarct
- Clotting disorder - Microthrombi in small vessels consume platelets & deplete fibrin. Can be triggered by obstetric complication, shock, gram neg sepsis, extensive trauma
- DIC (disseminated intravascular coagulation)
- Hypoperfusion of body tissues w/
- Shock
- Shock due to pump failure. (Cardiogenic, Hypovolemic, Hypotensive)
- Cardiogenic
- Shock due to wounds, burns, vomiting. (Cardiogenic, Hypovolemic, Hypotensive)
- Hypovolemic
- Shock due to peripheral vasodialtion - bacterial toxins, anaphylactic, neural injury. (Cardiogenic, Hypovolemic, Hypotensive)
- Hypotensive
- Which is not a lipid storage disease? Tay Sachs, Phenylketonuria, Gaucher's, Neimann Pick, Fabry's
- Phenylketonuria
- Which lipid storage disease results from a deficiency of hexosaminidase A? Tay Sachs, Gaucher's, Neimann Pick, Fabry's
- Tay Sachs
- Which lipid storage disease results from a deficiency of beta glucosidase? Tay Sachs, Gaucher's, Neimann Pick, Fabry's
- Gaucher's
- Which lipid storage disease results from a deficiency of sphingomyelinase? Tay Sachs, Gaucher's, Neimann Pick, Fabry's
- Neimann Pick
- Which lipid storage disease results from a deficiency of alpha galactosidase? Tay Sachs, Gaucher's, Neimann Pick, Fabry's
- Fabry's
- A type of mucopolysaccharidoses, a deficiency of alpha-L-iduronidase - results in buildup of heparin sulfate & dermatan sulfate
- Hurler's syndrome
- Abnormality in AA metabolism, deficiency of phenylalanine deaminase --> blocks conversion of phe to tyr. Can lead to mental & neurologic deterioration.
- Phenylketonuria (PKU)
- Intercelluar deposition of a proteinaceous material in beta-pleated sheets; many different amyloid proteins. If deposited in sufficient amounts it can interfere w/ cell functions - i.e. heart, adrenal, liver, & kidney (deposits in the glomeruli-nephr
- Amyloidosis
- Homogenous pink material on H&E sections; green bifringence when stained w/ Congo red & subjected to polarized light.
- Amyloidosis
- Amyloidosis is seen in all except one: multiple myeloma, medullary carcinoma of the thyroid, Alzheimer's disease, systemic lupus
- systemic lupus
- Amyloidosis is curable (T/F)
- FALSE
- cancer-inducing genes
- oncogenes
- normal genes that can become oncogenes
- proto-oncogenes
- abnormal cell growth
- neoplasia
- Epstein Barr virus is associated with all except: Nasopharyngeal carcinoma, Burkitt's lymphoma, Infectious mononucleosis, Oral hairy leukoplakia, Cervical carcinoma
- Cervical carcinoma
- HPV (human papilloma virus) subtypes 16, 18, 33 is associated w/ ______ _____
- cervical cancer
- HPV (human papilloma virus) subtypes 6 & 11 is associated w/ ______ _____ such as condyloma accuminatum (genital wart)
- benign lesions
- The most frequent caner in men
- Prostate
- The most frequent caner in women
- Breast
- The most frequent cause of cancer in both men & women
- Lung cancer
- ______ is the second most common cause of in the US, following ________ _________
- Cancer, cardiovascular disease
- _________ is the single most important defining characteristic of malignancy
- metastasis
- The 3 routes of metastasis are: hematogenous, transplant, lymphatic, direct seeding of body cavities
- hematogenous, lymphatic, direct seeding of body cavities
- The 2 best known tumor suppressor genes are ___ & ___. Loss or mutation of these genes can lead to cancer.
- p53, Rb-1 (retinoblastoma)
- The tumor suppressor genes WT1 & WT2 are associated with: Wilms tumor, familial polyposis coli, or breast cancer
- Wilms tumor
- The tumor suppressor gene APC is associated with: Wilms tumor, familial polyposis coli, or breast cancer
- familial polyposis coli
- The tumor suppressor gene BRCA-1 is associated with: Wilms tumor, familial polyposis coli, or breast cancer
- breast cancer
- What is the 2 hit hypothesis of Knudsen?
- 2 mutagenic events are required to initiate alterations of both chromosomes
- _________ are associated w/ gene amplification (N-myc oncogene)
- Neuroblastomas
- 2 hereditary cancers
- familial polyposis coli, Wilms tumor
- The most common autosomal disease in the US - linked to a defective or missing NF1 gene.
- Neurofibromatosis Type 1
- Most neoplasms are ___________
- monoclonal
- ______ _____ - Right ventricle hypertrophy due to pulmonary hypertension secondary to disorders of the lungs or pulmonry vessels
- Cor pulmonale
- COPD (Chronic Obstructive Pulmonary Disease), Chronic lung disease (cystic fibrosis, bronchiectasis, interstitial fibrosis), & recurrent thromboemboli can cause _____ ______ (a condition of the hear)
- Cor pulmonale
- Abrupt onset of right ventricular dilatation due to a massive pulmonary embolism
- Acute cor pulmonale
- Chronic passive congestion of lungs in left sided heart failure --> intra-alveolar hemorrhage --> RBCs that are forced out of the vessels are taken up by macrophages --> brown hemosiderin granules in macrophages --> called "_____ ____ ce
- "heart failure cells"
- _____ _____ _____ _____ results in pulmonary edema, Hemosiderin laden macrophages (heart- failure cells) in lungs, Chronic passive congestion in liver (nutmeg liver)
- Left sided heart failure
- _____ ____ ____ ____ is usually the result of left-sided heart failure, Jugular vein distension, peripheral edema, ascites
- Right sided heart failure
- The most common congenital heart defect recognized in clinical practice, initially is non-cyanotic w/ left to right shunting of ; in late stages flow is reversed
- Ventricular-septal defect
- Important cause of cyanosis at birth
- Tetralogy of Fallot
- Which is NOT part of the Tetrology of Fallot? Ventricular septal defects, Atrial septal defects, Pulmonary artery stenosis, Right ventricular hypertrophy, Dextroposition of the aorta
- Atrial septal defects
- inflammation of heart muscle
- Myocarditis
- most cases of myocarditis are of _____ origin, can also be of autoimmune origin such as in SLE (lupus)
- viral
- a multifactorial disease of large and medium sized arteries that is characterized by the accumulation of lipids, fibrosis, and calcification of the arterial walls.
- Atherosclerosis
- Which is not a risk factor for Atherosclerosis: Advancing age, (males until menopause then equal), Hereditary, Diet rich in lipids, Hypertension, Hypotension
- Hypotension
- Fatty streaks & intimal thickening, Atheromatous plaques, and Progressive narrowing to complete occlusion of the arterial lumen are pathological changes of __________
- Atherosclerosis
- Intermittent attacks of chest pain
- Angina
- Type of angina that is exercised induced. Stable, Prinzmetal, Unstable
- Stable
- Type of angina that is at rest, due to coronary vasospasms. Stable, Prinzmetal, Unstable
- Prinzmetal
- Type of angina that is at rest and last long. Stable, Prinzmetal, Unstable
- Unstable
- Leading cause of in the US, due to occlusion of the coronary arteries by a thrombus at the sight of a ruptured athersclerotic plaque
- MI
- ________ infarcts are the most common type characterized by coagulation necrosis
- Transmural
- Match the times w/ events: 6-12hrs / 12-24 hrs / 24-72 hrs / >72hrs / within 6 wks⬦⬦neutrophils / scarring / pale area / inc creatine kinase, troponin, & myoglobin / neutrophils replaced by macrophages, resorption of necrotic muscle tissue &am
- 6-12hrs⬦inc creatine kinase, troponin, & myoglobin / 12-24 hrs...pale area / 24-72 hrs...neutrophils / >72hrs...neutrophils replaced by macrophages, resorption of necrotic muscle tissue & formation of granulation tissue / within 6 wks⬦ scarring
- Endocarditis is always the result of an infection (T/F)
- FALSE it can be Infective or sterile
- Sterile endocarditis - Nonbacterial thrombotic endocarditis is also called _____ ______
- Marantic endocarditis
- _______ endocarditis characterized by deposition of small sterile ____ thrombi on prevously normal valves
- Sterile, fibrin
- An example of Sterile Endocarditis
- Libman-Sacks endocarditis (SLE)
- Abnormal immune response to streptococci (Group A beta hemolytic strep) in children affecting the heart
- Rheumatic fever
- tiny lumps in the heart muscle typical of Rheumatic heart disease
- Aschoff bodies
- Rheumatic fever can lead to abnomalities of the heart _____ which are prone to ________ & infections
- valves, calcification
- Rheumatic fever can result in ______ (Inflammation of the entire heart) and may be present w/ endocarditis, myocarditis, & pericarditis
- pancarditis
- A developmental disorder that causes growth retardation, facial abnormalities (maxillary hypoplasia etc.), & mental retardation
- Fetal alcohol syndrome
- Developmental disorder that causes Microcephaly, Microphthalmia, Cardiac defects
- Rubella
- Which one is NOT (or does not result in) a develpmental disorder: Fetal alcohol syndrome, Rubella, Herpes, Thalidomide, Radiation exposure
- Herpes
- 47 XXY, Tall male, infertile, testicular atrophy
- Klinefelter
- 45 X Short female, web neck, infertility, streak gonads
- Turner
- Trisomy 21, congenital heart disease, 15X inc risk for leukemia, male infertile, early alzheimer changes in CNS
- Down's syndrome
- Autosomal nt gene defect, defective fibrillin protein, floppy valve syndrome, dissecting aortic aneurysms, eye disorders (cataracts, detached retina)
- Marfan
- Autosomal nt gene defect, "rubber man" - hypermobility & hyperelasticity, defect in collagen gene, fragile vessels
- Ehler Danlos
- Autosomal nt gene defect, defect in collagen type 1, bones break easily, blue sclerae, dentinogenesis imperfecta
- Osteogenesis imperfecta
- Autosomal nt gene defect, dwarfism (short limbs), defect in endochondral ossification, affects long bones, mutation of gene encoding the receptor for fibroblast growth factor
- Achondroplasia
- Autosomal nt gene defect, gene on chromosome 16, progressive cystic dilation of renal tubules which become non-functional - renal failure in 3rd to 4th decade
- Adult polycystic kidney disease
- Autosomal nt gene defect, Expanded CAG nucleotide repeat chromosome 4, progressive dementia, chorea (involuntary movements), and affective outbursts
- Huntington disease
- Autosomal nt gene defect, low density lipoprotein cannot be removed from circulation leading to accelerated atherosclerosis & deposits fo cholesterol in tissues (xanthomas)
- Familial hypercholesterolemia
- Most common lethal autosomal recessive disorder, almost exclusively caucasians, involves lack of transport of chloride across the cell memebrane; affects bronchial glands (mucous buildup) and pancreas (dilation of ducts w/ thick mucous --> fibrosis),
- Cystic Fibrosis
- Important test for cystic fibrosis
- sweat test (Cl)
- Which Lysosomal storage disease in not autosomal recessive: Tay Sachs, Gaucher's, Neimann Pick, Fabry's, Hurlers
- Fabry's
- fattly stools
- steatorrhea
- Malabsorption syndrome w/ glutin sensitivity, villous atrophy, flat mucosa, chronic inflammation, growth retardation (failure to thrive)
- Celiac disease
- Malabsorption syndrome, small intestine, tropheryma whippeli bacillus in PAS positive macrophages, arthralgias (joint pain), cardiac, neurologic symptoms
- Whipple's disease
- dilation of colon (megacolon) & absence of ganglion cells
- Hirshprung's disease
- Flask shaped ulcers in colon; liver abscesses
- Entamoeba histolytica
- the most common type of polyp to have malignant transformation, but they are the least common type of polyp
- Villous adenomas
- Which one is NOT a Multiple polyposis syndrome (very high malignant potential): Entamoeba histolytica, Gardner syndrome, Familial polyposis, Turcot syndrome
- Entamoeba histolytica
- Which is NOT a predisposing factor for colon cancer? Adenomatous polyps, inherited polyosis syndrome, Huntington disease, longstanding ulcerative colitis, genetic factors, low fiber/high animal fat diet
- Huntington disease
- Which is not a Type 1 hypersensitivity eczema, hay fever, asthma, anaphylactic shock, contact dermatitis.
- contact dermatitis = type 4
- Which is not a Type 2 hypersensitivity reaction: Goodpastures, serum sickness, autoimmune hemolytic anemia, transfusion reactions, erythroblastisis fetalis, hypersensitivity, Graves disease, myasthenia graves.
- serum sickness = Type 3
- Type 3 hypersensitivity reactions include SLE, serum sickness, erythematosus and _________.
- polyarteritis nodosa
- Contact dermatits, sarcoidosis and TB are Type __ reactions.
- 4
- Type 4 reactions require antibodies. T/F
- FALSE
- IgG is the most abundant Ig. T/F
- TRUE
- Which Ig is first to be excreted on antigenic stimulation.
- IgM
- IgE is found on the surface of ____ cells involved with Type 1 reactions.
- mast
- Congo red dye --> green birefringence of this beta-pleated material.
- amyloid
- Primary amyloidosis is associated with monoclonal B cell proliferation; secondary with chronic inflammatory process. T/F
- True; True
- ________ amyloidosis is found in the heart, kidneys, adrenal glands and liver. T/F
- Systemic
- Alzheimer's, medullary thyroid carcinoma and Langerhans cells of Type 2 diabetics may demonstrate _______ amyloidosis.
- localized
- This disease is characterized by C-R-E-S-T, calcinosis, raynauds, esphageal dysmotility, sclerodactly and telangiectasia.
- Scleroderma
- An immune complex vasculitis causing fibrinoid necrosis and thrombi in small to medium arteries more common in men:
- polyarteritis nodosa
- Chronic inflamatory process involving muscles of extremities more common in women:
- Polymyositis
- Similar to polymyositis but involves skin:
- Dermatomyositis
- Libman Saks endocarditis, glomerulonephritis, arthritis and anti Smith antibodies:
- SLE - also butterfly rash, raynauds
- Also referred to as the "pulseless" disease when affecting the aortic arch, this disease causes intermittent claudicationa nd ischemic necrosis when the lower aorta is invloved.
- Takayasu's arteritis
- Inflamation and thrombi in medium sized vessels of the lower extremities cause cramping:
- Buergers disease - young men smokers
- _______ causes "skip areas" of nodular thickening of elastic arteries.
- giant cell arteritits (temporal arteries)
- This autoimmune disease causes necrotizing vasculitis and a triad of lesions; URT, lung and kidney.
- Wegener's disease - shows anti-neutrophil antibodies (C-ANCA)
- Normal cells - abnormal location:
- choristoma
- Normal cells - abnormal arrangement:
- hemartoma
- 3 germ layers, benign/malignant usually ovariy/testes
- teratoma
- The extent the tumor spreads is referred to as ____.
- staging
- Grading refers to _____ features
- histopathic
- What is the most reliable sign of malignancy?
- metastesis
- Most malignant neoplasms are polyclonal. T/F
- False - mono, benign are polyclonal
- Which carcinogen is paired incorrectly: asbestos-mesothelioma, aniline dyes-bladder cancer, arsenic-skin/lung, aflatoxin-leukemia.
- aflatoxin (aspergillus-mold grain)-liver cancer
- Which carcinogen is paired incorrectly: benzene-leukemia, uranium-lung, chimney sweep-scrotal cancer.
- all are correct
- Which virus is matched incorrectly: EBV-mono/Burkitt's, HPV 16/18-cervical cancer, Hep B/C-hepatocellular carcinoma, Herpes 8-bursitis.
- Herpes 8-Kaposi's
- Proto-oncogene --> oncogene by 4 mechanisms: point mutation, gene amplification, _________ and _______.
- translocation, insertion
- _______ is an example of malcontrolled gene amplification.
- Neuroblastoma
- Philly chromosome --> chronic myelogenous lukemia and EBV --> Burkitt's are examples of _____.
- translocation, insertion
- HBV --> liver cell is an example of ________.
- insertional mutagenesis
- Which is not a tumor suppressor gene: p53, APC, NFI, WTI, VHL, BRCA1&2.
- all are correct
- List the signs & symptoms of congenital infection (TORCH)
- Toxoplasma, Others (HIV, syphilis, TB, EBV), Rubella, Cytomegalovirus, Herpes
- The 2nd most common inherited cause of mental retardation (after Down's syndrome), Expansion of CGC trinucleotide repeat.
- Fragile X syndrome
- Fragile X syndrome, Huntingtons, myotonic dystrophy, & Friedreichs ataxia are all gentic defects of what type?
- Trinucleotide repeats
- Most common autosomal nt disease
- Familial hypercholesterolemia
- Most common autosomal recessive diseases
- sickle cell anemia, thalassemia, hereditary hemochromatosis
- Which is NOT a tumor marker: Alphafetalprotein, human chronic gonadotropin (HCG), seritonin, calcintonin, PSA, CEA
- seritonin
- occures in children following an acute viral febrile illness in association w/ asprin intake. Characterized by microvesicular fatty changes in the liver & encephalopathy
- Reye Syndrome
- Match the name w/ the disease: Marasmus, Kwashiorkor⬦protein deficiency w/ adequate calories > 1yr old (fattly liver, hypoalbumineria --> severe edema), deficiency of almost all nutrients < 1yr old
- Marasmus= deficiency of almost all nutrients < 1yr old, Kwashiorkor=protein deficiency w/ adequate calories > 1yr old (fattly liver, hypoalbumineria --> severe edema)
- Vitamin ___ deficiency results in pernicious anaemia, neuropsychiatric disorders
- B12
- Vitamin ___ deficiency results in Pellegra (3 D's: dementia, diarrhea, dermatitis
- B5
- Vitamin ___ deficiency results in Beriberi, also w/ alcoholics it can lead to Wernicke Korsakoff syndrome --> ataxia (loss of coordination) , confusion, confabulation (stories)
- B1 (thiamin)
- Vitamin ___ deficiency results in defective collagen (bone formation, bleeding, poor wound healing)
- C
- Vitamin ___ deficiency results in Rickets in children & osteomalacia in s
- D
- Deficiency of _____ _____ results in magaloblastic anemia (neurological dysfunction)
- folic acid