Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Path > deck_3466489 > Flashcards

deck_3466489 Flashcards

1
Q

How many protein-coding genes in Human Genome Project

A

19,000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Mutations affecting ___ cells can be inherited (basis of genetic disease)Mutations affecting ____ cells can result in tumors (usually not inherited/passed along)

A

GermSomatic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Which type of mutation alters reading of RNA

A

Frameshift mutations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Fragile X syndrome is what type of mutation?

A

Trinucleotide repeat mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Where are polymorphisms usually found?What are their significance for disease?

A

NON coding regions (i.e. introns & exons)They are markers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Copy number variation is an example of a ____, therefore, it’s recognized as a ____

A

polymorphismmarker

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Epigentic change is a ___ that reduces/shuts down ____ by:

A

polymorphismtranslocation (protein synth)methylation of cytosine residues

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Which polymorphism controls gene silencing?

A

Micro-RNA’s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Autosomal ___ disorder will be evident clinically when only one of the chromosomes in the pair (heterozygous) exhibits a mutation

A

dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Majority of automsomal ____ create outward physical changes.Early/late age of onset?Example:

A

dominantLATE (even though mutant gene is present from birth)Huntington’s Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

If one of the parents is infected and half the offspring are affected, it’s autosomal ____

A

dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Which disease has nearly 100% penetrance

A

neurofibramotosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is variable expressivity?

A

Trait is seen phenotypically, but is expressed differently among individuals

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

De novo mutation:

A

If a kid has an autosomal disorder and neither of the parents have it

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Which is a largest group of mendelian disorders?

A

Autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

For autosomal recessive, do the parents usually show the disease?

A

NO

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Autosomal ___ is when you need a germline from both parents to develop disease

A

recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Autosomal recessive commonly effects enzyme for:

A

metabolism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

For autosomal recessive, the age is onset is ___ in lifeThe expression tends to be ___ uniform and ___ penetrance is common

A

earliermore uniformcomplete penetrance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

X-linked disorders are almost always (dom/rec)If a man inherits an x-linked recessive (almost all are recessive), is he always affected?

A

RecessiveYES

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

When lyonization occurs, what is left in the female zygote?What is unfavorable lyonization causes clinical evidence of an _____ disease in a ___zygote.- Example:

A

Barr bodyx-linked disease in a heterozygote.Ex. hemophilia A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

A patient has coarse facial features, clouding of cornea, joint stiffness, and mental retardation. They have _____ which is due to lack of _____. It’s a _______disease

A

-Mucopolysaccharidoses -Lack of enzyme to degrade mucopolysachharides-Lysosomal Storage Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What are some things that come from MULTIFACTORIAL inheritance?Frequency of inheritance:

A

-Physiologic traits (i.e. height, weight, hair color, BP, etc)-Common diseases (i.e. diabetes, hypertension, gout, schizo)-2-7%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Prevalence of newborns that have a chromosomal abnormality:In as many as __% of 1st trimester spontaneous abortions, the fetus has a chromosomal abnormality

A

1/20050%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Euploid:Polyploidy:Aneuploidy:Trisomy:Monosomy:

A

-Euploid: normal -Polyploidy: multiple of 23 (SPONTANEOUS ABORTION)-Aneuploidy: any number that is not exact multiple of 23 (ASSOCIATED W MANY NEOPLASIAS -CANCER)-Trisomy: 1 extra chromosome-Monosomy: 1 less chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Translocation:Reciprocal translocation:Deletion:Inversion:

A

-Translocation: transfer of a part of 1 chromosome to another nonhomologous chromosome-Reciprocal translocation: fragments are exchanged between 2 chromosomes-Deletion: loss of a portion of a chromosome-Inversion: chromosome breaks in 2 points, then the released fragment turns around and then reunites

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Indications for genetic analysis..Prenatal:Postnatal:

A

PREnatal:-Mother >34yrs old-Parent is carrier of chromosomal translocation/ or x-linked disorderPOSTnatal:-Multiple congenital anomalies-Mental retardation-Infertility

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What does arteriosclerosis due to arteries

A

harderns arteries

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Which type of arteriosclerosis is calcification WITHOUT luminal narrowing or disruption (so blood flow is ok)

A

Monckeberg’s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Difference of hyaline and hyperplastic arteriosclerosis..-which causes narrowing of lumen?-which causes thickening of basement membrane?-which causes fibrocellular intimal thickening-which is more affected by diabetes?

A

-hyperplastic = narrowing of lumen-hyaline = thickening of basement membrane-hyperplastic = fibrocellular intimal thickening-hyaline more affected by diabetes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What disease is responsible for more death than any other?

A

Vascular disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Arterial vs. Venous side…Which is high pressure?Which has strong muscular wall?Which has a more elastic wall?Which has a larger lumen?

A

Arterial = high pressureArterial = strong muscular (to withstand pressure)Venous = elastic wallVenous = larger lumen (dilates easily)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Death rate for all atherosclerosis?__% due to MI

A

50%25% due to MI

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What is the most important NON-modifiable risk factor for arteriosclerosis?

A

Genetics (family history of MI)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What modifiable risk factor for arteriosclerosis increases death rate by 200%?What is a risk factor in the oral cavity?

A

smokinginflammation (CRP- inflammatory marker)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Atherosclerosis: response to injury hypothesis…-Endothelial injury results in endothelial dysfunction-Accumulation of lipoproteins-Monocyte adhesion =

A

Monocyte adhesion = migration into intima w/ differentiation into macrophages and “foam cells” (macrophages that have ingested lipid)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Atherosclerotic plaque (an atheroma) has a ____ cap, a _____ core and has progressive changes (which includes _____)

A

fibrous capcentral lipid corefissure formation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Fatty streaks occur in what age?They can be in atherosclerotic and nonatherosclertoic prone geographic areas and are characterized by:

A

Infants and childrenLipid-laden cells in the intima

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

A complication of ATHEROSCLEROSIS that’s due to pressure atrophy of the media w/ altered balance of collagen synthesis/degradation is?-It leads to?-Other complications?

A

AneurysmSudden death-gangrene, renal artery stenosis (atrophy of kidney)…

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Hypertension prevalenceNormal?Severe?

A

25%Normal 160/106

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Which type of hypertension accounts for 90%?What are some contributing factors of essential hypertension?What symptoms do most patients have?

A

Essential hypertensionGenetics, stress, obesity, increased salt intake, smokingNONE until organ damage has already occured!

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

With Essential Hypertension, what happens during compensation?What happens if you add dilation?

A

Concentric left ventricular hypertrophy…the muscles get stronger and makes the ventricular chamber smaller (cardiac output at risk)…makes heart pump fasterDilation causes it to be DEcompensated. Big heart but can’t pump very well. Leads to CHF

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Hypertension causes ____ sodium excretion –> salt and water ___ –> ____plasma volume and cardiac output

A

reduced excretionsalt and water retentionincreases plasma volume and cardiac output

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

MALIGNANT hypertension complications:__% live beyond 5 years

A

Cerebral edema with pailledema, retinal hemoorhage, encephalopathy (brain disease), renal failure50%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

What is Congestive Heart Failure?Affects how many people in US annually?Contributes to ____deaths

A

Failure of the heart to pump an adequate amount of blood to supply the metabolic requirements5 million300,000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

CHF compensatory mechanism..Initially:Then:Activation of neurohumoral system releases ____ w/ increased __ + ___. Activation of ____ system w/ water/salt retention –> increased circulatory volume

A

Initially: Myocardial hypertrophy (helps initially, but the larger muscle fibers require more oxygen from the capillaries, which is not typically available)Then: Frank-Starling mechanism (ventricular dilation)…as you stretch cardiac muscle, it’ll push out more forcefullyrelease of NE w/ increased HR + contractility-Activation of renin-angiotensin system

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Biggest cause of LEFT-side heart failure?Biggest cause of RIGHT side failure?Other causes of right side:

A

Ischemic heart diseaseLeft side heart failure-pulmonary (lung) hypertension (cor pulmonate), valve disease, septal defects w/ left to right shunts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Most common manifestation of CHF:CHF due to __ side leads to __ failureLeft ventricular failure causes ___ edemaRight ventricular failure (caused by left failure causing congestion) causes congestion of ____ AND edema of ____

A

Left ventricular failure Left failure leads to right failure (cuz left doesn’t pump out enough so it congests the right)Pulmonary edema (difficulty breathing while lying down)Congestion of liver and spleen AND edema of feet and ankle

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Prevalence of Congenital heart disease:What are the two forms:

A

6/1,000 births Cyanotic (right –> left) (shunting of poorly-oxygenated venous return to systemic arterial circulation.)Noncyanotic (left–>right)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

What are the 2 cyanotic congenital heart diseases?This can cause what clinically:Most common congenital heart disease:

A

Tetrology of Fallot + Transpostion-clubbing of fingers-Ventricular septal defect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Leading cause of death in the US?

A

Ischemic Heart Disease. 500,000 per year

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

During Ischemic heart disease, narrowing of ____ by at least __% by atherosclerosis. Other factors:

A

narrowing of coronary arteries by at least 75%Shock, pneumonia, anemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

Acute myocardial infarction (a type of ______)..Clinical presentation:Diagnostic test:Pathology:

A

Ischemic Heart DiseaseClinical: chest pain, shortness of breathDiagnostic: ECG, elevation of serum enzymes/troponinPath: coagulation necrosis (hours), neutrophil infiltration (days), granulomatous tissue (1 week), scar formation (wks-mos)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

3 types of cardiomyopathy:

A

DilatedHypertrophicRestrictive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

DILATED cardiomyopathy:

A

dilation of all 4 chambers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

HYPERTROPHIC cardiomyopathy:

A

GeneticASYMMETRIC HYPERTROPHY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

RESTRICTIVE cardiomyopathy:

A

decrease in ventricular compliance (wall is stiffer)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

Most common cause of myocarditis:Pathology:

A

Virus-Viral infection produces a lymphocytic infiltrate w/ foci of necrosis -Hypersensitivity (usually to drugs) causes a perivascular inflammatory infiltrate w/ many eosinophils

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

Mitral Valve Stenosis is failure of valve to:It is a result of acute _____ (which is usually caused by ____).This usually causes __carditis which is characterized by ____bodies which are essentially ____

A

-Failure of valve to OPEN completely (obstructing forward flow)-repeated Acute Rheumatic Fever (ARF)-Pharyngitis-myocarditis-Aschoff bodies-Granulomatous inflammation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

MITRAL Valve STENOSIS is thought to be due to the production of _____ against the streptococcal (pharyngitis) bacteria which cross react with various antigens in the heart

A

antibodies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

MITRAL Valve REGURGITATION is failure of valve to:2 causes:***Histopathologic feature:Mitral valve prolapse is when the leaflets balloon into the __ atrium during ___ventricular contraction (_____).Mild prolapse is very common and occurs in -% of the populationFloppy mitral valve can be an isolated abnormality or part of a systemic connective tissue disorder such as:

A

-Failure of valve to CLOSE completely (causing backflow of blood)-IHD and endocarditis-***Myxomatous degeneration-Left atrium-Left ventricular contraction (systole)5-10%Marfan syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

AORTIC valve STENOSIS is caused by ___ and ___ which reduce the valve cusp mobility. This can be due to chronic ____ ____ disease, or may occur with advanced age (>65). Is the aortic valve usually (bicuspid/tricuspid), and what is a common congenital malformation which ends up with fibrosis by 40

A

Fibrosis and CalcificationChronic rheumatic valvular diseaseUsually tricuspid (bicuspid is malformation)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

Infective Endocarditis…10-20% of cases are caused by:3 factors that have been identified as important pathogenesis:Weird clinical manifestations of IE:**Complications… rupture of ____

A

prosthetic valves1. endocardial/endothelial injury due to blood flow abnormality2. fibrin thrombi3. organisms in blood (sepsis)-Nail bed and retinal (Roth) hemorrhages -rupture of chordae tendineae

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

Acute vs Subacute Endocarditis…Which has large vegetations?Which is longer duration?Which has a more virulent organism?Which has a previously normal valve?Which has more tissue destruction

A

Large vegetations: AcuteLonger = subacuteMore virulent = AcutePreviously normal valve = acuteMore tissue destruction = acute

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

Vasculitis:What causes vasculitis to be worse?

A

Inflammation of blood vesselsImmune complexes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

Giant Cell (temporal) Arteritis…*AGE:Pathology:Clinical:similar to _____ arteritis but in ____px and not specific to ____ (gender)

A

-OLDER px-Granulomatous inflammation w/ giant cells, fibrosis. Causes narrowing of lumen which decreases blood flow to affected tissues-Weakness/pain of jaw (decreased blood supply)-Takayasu arteritis but in OLDER px and NOT specific to women

67
Q

Takayasu Arteritis…Causes “______” diseaseSimilar to ____arteritis but in ___ px and ___(gender)

A

“pulseless disease” due to weak pulses in arms)-giant (temporal) but in YOUNGER px and WOMEN

68
Q

Polyarteritis nodosa…Associated with which disease?Why is clinical presentation confusing?Clinical:Most common site of involvement?Healing is only by:

A

-Hep B-Involves multiple organ systems)-Renal failure which leads to hematuria (blood in urine), and ANEURYSM -Kidney-Fibrosis (which is bad for organs!)

69
Q

Kawasaki Disease…Suspected that a ___ infection triggers a ___ reaction (aka _____).*Age group:Clinical:Therapy:

A

VIRAL infection triggers hypersensitivity reaction (aka mucocutaneous lymph node syndrome)-INFANTS/YOUNG children-Skin rash, mucous membrane (mouth) lesions-Self limited, but 1-2% will die of coronary artery vasculitis

70
Q

Microscopic Polyangitis…**Clinical:

A

-**RASH

71
Q

Wegener Granulomatosis..Why may dentists see it?What else does it affect?Associated with presence of which antibodies?

A

-Involves sinuses/ upper airway—ALSO causes “strawberry gingivitis-lungs and kidney (glomerulonephritis)-PR3-ANCA

72
Q

Thromboangiitis Obliterans (Buerger Disease)…Endothelial injury from:Usually begins before age ___ and causes pain and ischemia in ____

A

A substance in cigarette smokeBefore 45Extremities

73
Q

**Dissecting Aorta Hematoma (ANEURYSM)…How does it affect the media?Altered balance of collagen ____and ____Predisposing factors:Type A dissection is when you affect ______ which causes:Does it cause branch obstruction?

A

-Splits the media-Collagen synthesis and degradation -hypertension, CT disorders (Marfan).-Ascending aorta –> sudden death-Yes, causes branch obstruction

74
Q

What are the 2 ANCA - positive forms of vasculitis?

A

Wegener’s and microscopic polyarteritis

75
Q

Leukemias are malignant proliferations of cells native to the _____ which often spillover into the ___. They can spread to involve ____

A

bone marrowbloodorgans (usually liver and spleen..but also gingiva)

76
Q

What is defined by Reed-Sternberg cells

A

Hodgkin Lymphoma

77
Q

Hodgkin lymphoma….-Cause-Defined by:-It’s characterized by spread within lymph node groups which is why ___ is important in assessing prognosisFever?Age:Prevalence:Difference of A and B (which has better prog)

A

-Possibly EBV-Reed-Sternberg cells-Staging-YES fever-Bimodal age distribution (15-30 / 50+)-Only 9,000… (NON-hodkins is 72,000)-A=absence of symptoms(better prog) B=presence of symptoms

78
Q

NON-hodgkin lymphoma….Can be IN lymph nodes OR lymph tissue of solid organs.. basically ALL parts of the body!!!-Prognosis is based on:-Majority is of _-cell origin -Classification of worst prognosis:-Classification of best prognosis:

A

-Grading/subtype (based on their morphology)-b cell origin-worst = LARGE DIFFUSE -small nodular

79
Q

Hodgkin VS NHL…Which has RS cellsUsually has multiple node involvement:More common:Which is based on STAGE (location):Which is based on GRADING (morphology):Which affects ALL ages:Large painless lymph nodes:

A

RS = HodgkinMultiple node = NHLMore common = NHLStage = HodgkinGrading = NHLAll ages = NHLLarge painless nodes = BOTH

80
Q

Biggest difference between acute and chronic Leukemias (with regards to bone marrow)

A

Acute has an increase in blasts (chronic doesn’t have an increase in blasts)

81
Q

Acute Lymphoblastic Leukemia (ALL)…***The principal cause of cancer deaths for what age group:Affects which cells (B/T):Best prognosis group:

A

-**Children-BOTH (B and T)-Children 2-1- with B cell type

82
Q

Acute Lympoblastic Leukemia (ALL) vs Acute Myeloblastic Leukemia (AML)-Enlargement of lymph nodes, liver and spleen more common in:-Often involves CNS:-Which affects mostly children..which affects mostly adults-Remission more common with

A

-Enlargement more common = ALL-CNS = ALL-Children = ALL-Adults = AML-Remission = AML

83
Q

Acute Myeloblastic Leukemia (AML)…-**Marker for AML:-Cytoplasmic inclusions called _______ are diagnostic of AML-Usually affects what age

A

-Marker = myeloperoxidase-AUER RODS-Age = Older population

84
Q

Chronic Lymphocytic Leukemia (CLL)…-*****Most common age group:Median survival:

A

->60 (OLDER ADULTS)***-4-6yrs

85
Q

Chronic Myelogenous Leukemia (CML)…The specific chromosomal abnormality is the _______ which results in fusion of the _____ genes.-What is almost always enlarged in CML patients?-Terminal phase is marked by increase of ___ in peripheral blood and marrow.-Decreased response to treatment is called:

A

-***Philadelphia Chromosome- BCR-ABL genes-Enlargement of spleen-immature cells-blast crisis

86
Q

What are the 2 main clinical features of Leukemia?

A

1) impairment of marrow function2 )infiltration of body organs

87
Q

In plasma cell disorders, the secreted immunoglobulin results in increases of ________, which may have adverse effects on ___ and ___ fucntion

A

-increase of serum monoclonal protein (M component)-Adverse effects on renal and neurologic function

88
Q

Multiple Myeloma…-Proliferating cell is a plasma cell that produces:-Most common immunoglobulin:-When only ____ chains are produced, patients can excrete them in the urine (aka _______)-Patients often present with:-What is the diagnostic characteristic?-Cure?-Life expectancy:

A

Immunoglobulin-IgG-Light chains … Bence Jones proteinuria-Bone pain, hypercalcemia, renal disease-MULTIPLE bone lesions-No real cure (but some success with thalidomide and ant-resorptive tx.)-4-6yrs

89
Q

Do testing for anemia DIRECTLY measure the red cell mass?Whats an INCREASE in red cell mass called?

A

NO! just reflectPolycythemia

90
Q

RBC loss // Decreased RBC survival // or Decreased RBC production…***Nutritional deficiency:Hemorrhage:Hemolysis (transplant not doing well):Malaria:Iron anemia:Hemolytic anemia:

A

Nutritional = decreased PRODUCTIONHemorrhage = lossHemolysis (transplant) = decreased survivalMalaria = decreased survivalIron anemia = decreased productionHemolytic anemia = decreased survival

91
Q

Coomb’s test is an autoimmune test to see if there is:

A

immunoglobulin on blood cells

92
Q

Young healthy subjects can tolerate rapid blood loss of ____ml (__% of total).Interstitial fluid will redistribute within ___Rapid blood loss of ____ml produces shock

A

500-1000ml (15-20%)24 hrs2000ml

93
Q

The loss of RBC stimulates increased production, mediated by ____, resulting in an increase in the ____ count in the peripheral blood

A

mediated by erythropoietinincrease in the reticulocyte count

94
Q

Chronic blood loss causes anemia when:

A

loss exceeds regeneration OR when iron reserves are depleted

95
Q

INTRAvascular hemolysis…key feature:What is excreted in the urine?Conversion of heme to bilirubin leads to:Levels of ____ are characteristically low

A

-Key: decrease in serum haptoglobin-urine: free hemoglobin (hemoglobinuria)-bilirubin: hyperbilirubinemia and jaundice-heptoglobin

96
Q

Which releases hemoglobin directly in blood and urine (hemoglobinuria)…. Intra or Extravascular hemolysis

A

INTRAvascular hemolysis

97
Q

EXTRAvascular hemolysis…-destruction of RBC in ______ (the blood filters). Which causes these organs to (inc/dec) in size-Examples (diseases):-Chronic elevated levels of bilirubin can promote formation of:

A

-spleen and liver (reticuloendothelial system)—spleen/liver increase in size-Sickle cell anemia, erythroblastosis fetalis (newborn hemolytic disorder)-formation of gallstones

98
Q

Which are usually inherited? Which are normally acquired (intrinsic/extrinsic hemolytic anemia)

A

Intrinsic = inheritedExtrinsic = acquired

99
Q

Hereditary spherocytosis….It’s a defect of ___ which is a ____ protein of the cytoskeleton.Therapy: (and what can be a negative affect of therapy)Following splenectomy, production of ____ continues, but they’re less destructive

A

-Defect of spectrin (a structural protein)-Removal of spleen (without spleen, you can get sepsis) -Spherocytes

100
Q

Sickle Cell anemia-Inherited autosomal _____-Under ______ conditions, the abnormal hemoglobin polymerizes causing RBC to sickle-Complications include auto____ (complete necrosis of this organ)-Heterozygotes have a resistance to which disease:

A

-Codominant-Low oxygen-autoSplenectomy-malaria

101
Q

Thalassemia-Cell appearance:-What does it do in regards to bone marrow:-Principal clinical manifestation:-In almost all cases, there is a moderate to marked ____ with target cells… and ______ of the RBCs present on the blood smear.-Thalassemia is common in people from:-What does this reduce the impact of?

A

-pale and small -can causes bone marrow to be in places it usually isn’t (like jaw)-Anemia (decreased hemoglobin production)-microcytosis (small appearance)-basophilic stippling of the RBCs-Mediterranean, african.-reduced malaria

102
Q

G6DP deficiency-**Morphologic hallmark:-Since G6DP is an antioxidant, RBCs are susceptible to:-Effect on RBC membrane:

A

-“Bite” cell-oxidative injury-membrane flexibility reduced

103
Q

-Erythroblastosis fetalis is caused by:

A

-caused by blood group incompatibility between mother and fetus

104
Q

Hemolytic Transfusion Reaction…Transfusion of incompatible RBCs results in activation of:Which antigens usually produce this activation?

A

-Activation of coagulation cascade with bleeding, renal failure, and shock.-ABO antigens

105
Q

Autoimmune Hemolysis **Hallmark?What is the cause?Coomb’s test (pos/neg)

A

-**Spherocytes-Patient makes antibodies to his own RBCs-Positive

106
Q

Cardiac Valve Prosthesis.Hallmark of this mechanical trauma?

A

-schistocytes (loss of large portion of membrane)

107
Q

Malaria..Parasites infect RBS and cause lysis of RBC during ____

A

maturation

108
Q

What is the most common cause of anemia in the world?RBCs appearance:Important to recognize anemia may be a sign of a more serious disorder associated w/ chronic blood loss (ie _____)

A

iron deficiency -pale and white-cancer

109
Q

Megaloblastic anemia is deficiency of:They are both involved w/ synthesis of:End result is abnormally ___RBC precursor, _____ production of MATURE RBCs, and abnormally large ____cells.

A

B12 and folate-thymidine-abnormally large RBC precursor (megaloblast), -decreased production of MATURE RBCs-also large white cells

110
Q

Where is B12 found?Body stores? (large or small)Folate is found?Body stores?

A

B12: animal foodsStores: largeFolate: vegetablesStores: small

111
Q

Px with pernicious anemia have autoantibodies directed against____, which is a carrier for ___ so this causes ___ deficiency.B12 deficiency also causes a _____ disorderHow does this show on tongue?

A

-directed against intrinsic factor-carrier for B12-B12 deficiency-Demyelinating disorder (neurological….like gate probs)-Redness on tongue

112
Q

What’s it called when production of all cellular elements of the blood (red, white, platelets) are decreased.Over half the cases have no know cause (idiopathic)2 major path theories :Therapy?

A

Aplastic anemia1) acquired defect in stem cell production2) suppression of stem cells by T lymphocytes-Bone marrow transpant

113
Q

What’s it called when a tumor replaces bone marrow (so there isn’t as much marrow to produce RBCs)

A

Myelophthisic anemia

114
Q

When you run a marathon (dehydrated) , what happens in regards to RBCs?Living in a high altitude can produce:Neoplastic proliferation of myeloid cells is called:

A

Relative polycythemia (increase in RBC)secondary absolute polycythemia-polycythemia vera

115
Q

Hemostasis definition:3 major components of hemostasis

A

ability to maintain blood in a fluid state AND prevent loss from sites of damage (hence “stasis”… equilibrium)-vascular wall, platelets, coagulation proteins

116
Q

Primary hemostasis is ___drivenSecondary hemostasis is ___driven

A

Primary = plateletSecondary = coagulation (thrombin/fibrin)

117
Q

During primary hemostasis, platelet adhesion involves activation of:What’s the surface it adheres to?What mediates the adherence of platelets?

A

-surface membrane receptor (glycoprotein Ib)-subendothelial matrix (collagen)-vWF mediates adherence

118
Q

Activation of primary hemostasis….Secretion:Activation of:Shape change:

A

Secretes: alpha granules-activation of GP IIb/IIIa receptor-from discoid to spherical

119
Q

Aggregation of primary hemostasis…dependent on:Platelet-platelt binding mediated by:

A

calcium-fibrinogen

120
Q

What does thrombin do (secondary hemostasis).What does it do to the clot?

A

Converts fibrinogen to fibrin -Adds stability to the clot

121
Q

Which pathway is more important in secondary hemostasis?It’s activated by:

A

EXTRINSIC -tissue factor

122
Q

Antithrombins def:

A

inhibit activity of thrombin and other serine proteases

123
Q

What is the protein C system?What’s the major effector enzyme, what’s the major cofactor?Deficiencies in this system would cause:What does Factor V Ledin mutation promote?

A

REGULATES hemostasis (they slow down hemostasis)-Protein C is the major effector enzyme, protein s is a major cofactorHypercoagulability-Coagulation

124
Q

Summary of REGULATION of coagulation…Antithrombin inhibits:Protein c inhibits:Plasmin breaks down:

A

Antithrombin inhbits serine proteasesProtein C inhibits cofactorsPlasmin breaks down fibrin clot

125
Q

Screening tests to evaluate hemostasis…Prothrombin Time def:***Used to initiate ____ coagulation cascade

A

time needed for plasma to form a clot in the presence of added tissue thromboplastinEXTRINSIC

126
Q

Screening tests to evaluate hemostasis…Partial Thromboplastin TimeMeasurement of ____ pathway

A

time needed for plasma to form a clot in the presence of added ground glass or kaolin (to activate factor XII)INTRINSIC

127
Q

When either the PT or PTT is prolonged, a ______ with 1:1 ratio of normal plasma:patient plasma is performed.If mixing study corrects clotting time, px has ____ of factors.If the mixing times does NOT correct the clotting time, an ____is present (either ____ or _____type)

A

mixed studydeficiency of factorsinhibitor (factor-specific or lupus anticoagulant type)

128
Q

If bleeding disorder screening laboratory tests are normal, disorder of the ____ system may be suspected

A

regulatory

129
Q

Disorders of Primary or Secondary hemostasisWhich causes more superficial bleeding (i.e. mucosa)?Which causes deeper bleeding (i.e. joints)?

A

Primary = superficialSecondary = deeper

130
Q

vWF functions both as the carrier molecule for ______ and as the “glue” between damaged endothelium and platelets (primary hemostasis)

A

Factor VIII

131
Q

What is the most common inherited bleeding disorder?

A

von Willebrand disease (1% of population)

132
Q

von Willebrand disease predominant clinical manifestation:Symptoms often improve after (what age group):Bleeding time? PTT?Therapy:

A

mucocutaneous bleeding (nosebleeds - epistaxis, bruise - ecchymoses)-adolescence-prolonged bleeding time, prolonged PTT-desmopressin, factor VIII, cryoprecipitate

133
Q

Hemophilia A is a ________ recessive disorder due to decreased production of ____-Most common cause for:-Clinical hallmark:-Bleeding time? PTT? Factor VIII-Severe hemo A is characterized by:-Therapy:-Complications:

A

sex-lined recessive (affects males)-decreased production of Factor VIII-serious bleeding-recurrent soft tissue bleeding-normal bleeding time, prolonged PTT, decreased VIII-

134
Q

How is Hemophilia B different than A?How is vWF disease different than Hemo A

A

Decreased production of Factor IX (instead of VIII in A)vWF has mucocutaneous bleeding

135
Q

Decrease in platelet count is called:Bleeding due to thrombocytopenia typically appears as:Evaluation of thrombocytopenia is made using peripheral _______, or ____

A

thrombocytopenia-petechial hemorrhages in skin and mucous membranes-blood smear, bone marrow exam to determine if platelet are being produced in adequate numbers

136
Q

What disorder is characterized by immune-mediated destruction of platelets?-Acute form occurs in (what age)-Therapy:-What group of people predominate-Therapy:

A

Immune Thrombocytopenic Purpura (ITP)Childhood-Self limited (2-6 weeks)-Females w/ autoimmune disorders predominate-corticosteriods, IV immunoglobulin, splenectomy

137
Q

Cause of Thrombotic Thrombocytopenic Pupura (TTP):Deficiency of this enzyme results in:Left untreated:

A

-deficiency of of metalloproteinase (ADAMTS 13), that normally degrades some vWF.-abnormally large vWF in the plasma.-death (renal failure)

138
Q

Disseminated Intravascular Coagulation (DIC) results from:There is both formation of ___ and ___.Coagulation factors are activated and consumed faster than they can be ____. Resulting in:Clinical manifestation:Sepsis increases risk of DIC.Therapy:

A

uncontrolled activation of the hemostatic system.-formation of thrombin and plasmin-produced; bleeding and microvascular thrombi-bleeding from multiple sites-Directed at removing the initating stimulus, and supporting that patient’s coagulation protein reserve w. transfusions of plasma and platelets

139
Q

Azotemia def:Uremia def:

A

RENAL DISEASESAzotemia = elevation of blood urea nitrogen (BUN) and creatinine levels, due to decreased GFRUremia = azotemia + other clinical symptoms

140
Q

Acute Nephritic Syndrome ***characterized by:Nephrotic syndrome is characterized by: (how many grams per day)Acute renal failure:

A

Nephritic = **HEMATURIANephrotic = Proteinuria (>3.5g per day)Renal failure: acute onset of azotemia w/ oliguria

141
Q

Autosomal dominant vs recessive polycystic kidney disease….-In adults:-Kids:-Which is more common (1:500-1000):-Gradual onset:-***Creates cysts in Circle of Willis (intracranial):-Has the gene mutation that includes liver (pkHd1..H is hepatic):-Causes very large kidneys:-Cysts arise from collecting tubules

A

-Adults = dominant-Kids = recessive-More common = dominant-Gradual = dominant (hence adults)-**Intracranial cysts = dominant-PKHD1 = recessive-Large kidneys = dominant-Collecting Tubules = recessive

142
Q

What are the 2 mechanisms of Glomerular Injury:

A
  1. Immune complex deposits in Glomerular Basement Membrane (GBM)2. Epithelial and endothelial injury
143
Q

For evaluation of kidney biopsies, you use EM (electron microscopy) to identify:

A

More specific location of beasement membrane

144
Q

Nephrotic syndrome findings…LM:IF:EM:

A

LM: normalIF: no immune complexe EM: foot process effacment

145
Q

Minimal Change Disease…-Path in EM:-Most common cause of Nephrotic syndrome in _____.-Response to treatment (good/bad)

A

-Epithelial cell foot processes-Most common of = children-Treatment = good

146
Q

Focal and segmental glomeruloslerosis…-Sub category of _____ syndrome.-Characterized by:-Response to treatment:

A

-Nephrotic syndrome-Increased mesangial matrix collagen with obliteration of capillary loops -Poor response to tx.

147
Q

Membranous Nephropathy (glomerulonephritis)-Sub category of _____ syndrome.-Most common in what age:-**Pathology:-Response to tx.

A

-Nephrotic syndrome-Adults 30-50-Path: Immune complexes in the EPITHELIAL side (SUBEPITHELIAL)-Poor response to tx.

148
Q

What is the 2nd most common cause of death from diabetes (after MI).What is the characteristic of renal disease w/ diabetes:

A

Renal failure.-Nodular glomerulosclerosis (Kimmelstiel-Wilson lesion)

149
Q

Nephritic syndrome…Inflammation severely injures ______Acute postinfectious (poststreptococcal) glomerulonephritis is associated w/ _____ cells.IgA Nephropathy causes _____ after upper respiratory infectionManifestation:**Pathology:

A

-Capillary walls-Inflammatory cells (neutrophils and monocytes)-Hematuria-Skin rash and arthritis (Henoch-Schonlein purpura)-Path: mesangial deposition of immune complexes

150
Q

3 things that kidney disease will affect:

A

GlomeruliRenal VeinsRenal Pelvis

151
Q

Rapidly Progressive Glomerulonephritis is progressive loss of:-Characteristic finding:Manifestation:

A

-Loss of renal function-Crescents-Severe oliguria (inability to produce urine)

152
Q

Chronic (end -stage) renal disease is loss of glomeruli and tubules leads to _____. Damaged glomeruli become completely ____.

A

FibrosisSclerotic

153
Q

Acute Pyelonephritis is usually caused by:What direction does this infection spread?**What lodges in kidney walls?Treatment?

A

-bacterial infection-ascends (from bladder to kidney)-**neutrophils (inflammation!)-treat bacterial infection

154
Q

Drug-induced Interstitial Nephritis…RAPID onset of:Path:

A

fevereosinophils

155
Q

Acute Tubular Necrosis characteristic: (can it regenerate?)Affect on urine:How does it affect the glomerulus?Most common etiology?

A

-Tubular damage (Which CAN regenerate)-Oliguria (T affect glomerulus-Most common = ischemia

156
Q

Arterionephrosclerosis is associated w/:What group of people does it affect?Effect on kidneys:Pathology:

A

benign hypertension-African Americans-very small kidneys (cuz they don’t get enough blood)-HYPERPLASTIC areriosclerosis

157
Q

Thrombotic Thrombocytopenia Purpura (TTP) AND Hemolytic-Uremic Syndrome (HUS) are related to activation, aggregation, and consumption of:Which one affects kidney?Which one affects more organs?

A

plataletsTTP= all organs (including CNS)HUS= just kidney

158
Q

Why is ground beef usually recalled? (SHIGA TOXIN)

A

HUS

159
Q

WHo is at high risk for kidney stones because of high cell turnover?

A

Ppl with Leukemia

160
Q

Renal Cell Carcinoma…Age group/gender:Predisposing factor:Clinical:This carcinoma is an exception because it invades:

A

-Older males-polycystic disease due to chronic dialysis -polycythemia (increased RBC) -renal vein (usually lymph)

161
Q

Wilm’s tumor is one of the most common cancers in ____ (age).***Pathology:

A

-Children (2-5yrs)-Triphasic proliferation (epithelial, stromal, BLASTEMAL)

162
Q

Glycoprotein IIb/IIIa on the _____ binds ___

A

on the PLATELETS binds FIBRINOGEN

163
Q

Heparin works the same way as ____. Which works by stopping:

A

antithrombinstopping thrombin from making fibrin (inhibit serine proteases)

Path (5 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions