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TCM > Exam II > Flashcards

Exam II Flashcards

1
Q

any swelling, nodule or protuberance

A

tumor

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2
Q

abnormal uncontrolled growth of cells

A

neoplasia

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3
Q

neoplasias are identified by

A

clonal genetic mutations

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4
Q

describe clonal genetic mutations

A

entire parenchyma of neoplasm arises from one genetically altered cell

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5
Q

neoplasms that have acquired mutations that allow for invasion and metastatic potential

A

malignant neoplasm

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6
Q

two basic components of neoplasms

A

parenchyma
stroma

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7
Q

dense, rock-hard fibrotic stroma of a neoplasm describes…

A

scirrhous desmoplastic reaction

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8
Q

epithelial malignant neoplasm

A

carcinoma

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9
Q

mesenchymal malignant neoplasm

A

sarcoma

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10
Q

mass producing malignancy formed by lymphoid cells

A

lymphoma

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11
Q

non-mass producing malignancy of hematopoietic cells

A

leukemia

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12
Q

combined mesenchymal and epithelial malignancy

A

carcinosarcoma

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13
Q

melanocytic malignant neoplasm

A

melanoma

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14
Q

tumor composed of very immature undifferentiated cells

A

blastoma

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15
Q

name the benign and malignant neoplasms:
blood vessels

A

hemangioma
angiosarcoma

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16
Q

name the benign and malignant neoplasms:
lymph vessels

A

lymphangioma
lymphangiosarcoma

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17
Q

name the benign and malignant neoplasms:
mesothelium

A

benign fibrous tumor
mesothelioma

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18
Q

name the benign and malignant neoplasms:
brain coverings

A

meningioma
invasive meningioma

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19
Q

name the malignant neoplasms:
hematopoetic cells

A

leukemias

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20
Q

name the malignant neoplasms:
lymphoid tissue

A

leukemias and lymphomas

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21
Q

name the benign and malignant neoplasms:
smooth muscle

A

leiomyoma
leiomyosarcoma

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22
Q

name the benign and malignant neoplasms:
striated muscle

A

rhabdomyoma
rhabdomyosarcoma

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23
Q

name the name the benign and malignant epithelial neoplasms:
liver cells

A

hepatic adenoma
hepatocellular carcinoma (hepatoma)

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24
Q

name the name the benign and malignant epithelial neoplasms:
placental epithelium

A

hydatidiform mole
choriocarcinoma

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25
Q

name the name the benign and malignant epithelial neoplasms:
tumor of melanocytes

A

melaoncytic nevus
malignant melanoma

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26
Q

malignant neoplasm from cells that make sperm

A

seminoma

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27
Q

neoplasms with more than one neoplastic cell type derived from ONE germ cell layer

A

mixed tumors

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28
Q

benign mixed tumor of salivary gland

A

pleomorphic adenoma

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29
Q

malignant mixed tumor of renal anlage

A

Wilms tumor (nephroblastoma)

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30
Q

neoplasm with more than one neoplastic cell type derived from MORE THAN ONE germ cell layer

A

teratogenous

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31
Q

what germ layer do gut and lung epithelium arise from?

A

endoderm

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32
Q

what germ layer do skin and parathyroid glands epithelium arise from?

A

ectoderm

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33
Q

what germ layer do fat and renal epithelial tubules arise from?

A

mesoderm

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34
Q

what germ layer do brain and nervous tissues arise from?

A

ectoderm

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35
Q

what germ layer do glands, including liver and pancreas, arise from?

A

endoderm

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36
Q

what germ layer do bones and cartilage arise from?

A

mesoderm

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37
Q

mature teratoma:
benign/malignant?
AKA?

A

benign
dermoid cyst

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38
Q

mature teratoma that contains a single tissue type

A

monodermal teratoma

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39
Q

mature teratoma found in the ovary that contains ONLY thyroid follicles

A

struma ovarii

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40
Q

immature teratoma:
malignant or benign?

A

malignant

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41
Q

teratoma containing carcinoma, sarcoma, and/or germ cell malignancy

A

malignant teratoma

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42
Q

benign non-neoplastic tumor-like malformation resulting from faulty development in an organ and composed of abnormally arranged tissue elements normally seen in that organ

A

hamartoma

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43
Q

congenital heterotopic rest of cells (NOT a neoplasm) – normal tissue in abnormal location

A

choristoma

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44
Q

decreased differentiation–does NOT look like mature tissue of origin

A

anaplasia

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45
Q

variation in appearance of cells within the tumor

A

pleomorphism

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46
Q

extra DNA

A

nuclear enlargement

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47
Q

marked increase in content per nucleus with more intense blue staining by hematoxylin

A

nuclear hyperchomicity

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48
Q

higher rate of growth seen in malignancy is caused by what?

A

increased mitotic activity d/t loss of normal cell cycle control

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49
Q

increased fibrous tissue surrounding invading parenchymal cells

A

desmoplasia

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50
Q

dense fibrous desmoplastic reaction making cancer HARD to palpation

A

scirrhous

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51
Q

increased blood vessels

A

angiogenesis

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52
Q

new foci of neoplastic growth away from the initial neoplastic mass

A

metastasis

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53
Q

is anaplasia (lack of/dedifferentiation) indicative of neoplasia?

A

almost always!

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54
Q

what are 4 characteristics of cellular anaplasia

A

pleomorphism
abnormal nuclear morphology
increased mitotic activity
loss of polarity

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55
Q

pleomorphism may or may not be ______

A

malignant!

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56
Q

full thickness epithelial dysplasia with no evidence of tissue invasion by the abnormal cells

A

carcinoma in situ

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57
Q

HPV cytopathic changes are called

A

Koilocytototic atypia

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58
Q

extreme full thickness dysplasia with no invasion

A

carcinoma in situ

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59
Q

are malignant tumors encapsulated?

A

No!

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60
Q

____ unequivocally marks a tumor as malignant

A

metastasis

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61
Q

what are sentinel lymph nodes

A

nodes that the tumor spreads to first

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62
Q

what is significant about the hematogenous spread from hepatic, renal and adrenocortical areas?

A

can propagate in veins–can grown as a mass into the heart

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63
Q

cancer metastases from which areas can propagate in veins up to the heart

A

hepatic
renal
adrenocortical

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64
Q

venous connections that extend from pelvis to skull along the vertebral column

A

Batson (paravertebral) veins/plexus

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65
Q

what is classic route of metastasis for prostatic cancer (and renal, breast, rectal, and bladder)

A

Batson veins/plexus

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66
Q

what cancers metastasize via Batson veins/plexus

A

prostatic!
also renal, breast, rectal, bladder

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67
Q

probability of being dx with a disease during a given period of time

A

incidence

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68
Q

number of new cases of a disease per number of people at risk

A

incidence

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69
Q

total number of cases of diseases existing in a population

A

prevalence

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70
Q

number of deaths divided by total population

A

mortality rate

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71
Q

what is the most common cancer INCIDENCE in males vs. females

A

males: prostate
females: breast

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72
Q

what is the most common cancer deaths in males vs. females

A

lung, bronchus cancer for BOTH!

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73
Q

HTLV-1 (oncogenic RNA virus)

A

adult T-cell leukemia/lymphoma

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74
Q

HCV (oncogenic RNA virus)

A

hepatocellular carcinoma

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75
Q

HBV (oncogenic DNA virus)

A

hepatocellular carcinoma

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76
Q

HPV (oncogenic DNA virus)
types? cancer?

A

types 16 and 18!!
carcinomas of cervix, anus, penis, oropharynx

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77
Q

HHV-8 (oncogenic DNA virus)

A

Kaposi sarcoma and primary effusion lymphoma

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78
Q

EBV (oncogenic DNA virus)

A

Burkitt lymphoma
Hodgkin lymphoma
nasopharyngeal carcinoma

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79
Q

aspergillus (fungus)
toxin? cancer?

A

aflatoxin B1
hepatocellular carcinoma (p53 mutation)

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80
Q

Schistosoma haematobium (parasite)

A

bladder cancer

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81
Q

helicobacter pylori (bacteria)

A

MALT lymphoma and gastric adenocarcinoma

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82
Q

chronic exposure to soot in chimney sweeps can result in…

A

scrotal skin cancer (NOT TESTICULAR CA!)

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83
Q

change in incidence of various cancers with migration from Japan to US provides evidence that cancers are related to ____

A

environmental factors

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84
Q

anticancer drugs may cause cancers! especially ____

A

leukemias

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85
Q

vinyl chloride
cancer? which pts?

A

vascular CA in liver
workers in a factory making PVC pipes

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86
Q

polyvinyl chloride
cancer? where’s it found?

A

NOT associated with cancer
found in PVC pipes

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87
Q

arsenic and arsenic compounds

A

skin carcinomas

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88
Q

asbestos
cancers?
found where?

A

lung, esophageal, gastric, and colon carcinoma, mesothelioma
construction, brake linings, floor tiles

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89
Q

benzene
cancers?

A

acute myeloid leukemia

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90
Q

radon
cancers?
found where?

A

lung carcinoma
from decay of minerals containing uranium–quarries and underground mines

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91
Q

vinyl chloride
cancers?
found where?

A

hepatic angiosarcoma
monomer for vinyl polymers (PVC industry)

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92
Q

associated neoplasm and etiologic agent?
asbestosis

A

lung carcinoma, mesothelioma
asbestos fibers

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93
Q

associated neoplasm?
inflammatory bowel disease

A

colorectal cancer

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94
Q

associated neoplasm?
lichen sclerosus et atrophicus

A

vulvar squamous cell carcinoma

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95
Q

associated neoplasm and etiologic agent?
chronic pancreatitis

A

pancreatic carcinoma
alcoholism

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96
Q

associated neoplasm and etiologic agent?
chronic or recurrent bronchitis

A

lung carcinoma
asbestos, smoking

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97
Q

associated neoplasm and etiologic agent?
reflux esophagitis with/without Barrett esophagus

A

esophageal carcinoma
gastric acids

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98
Q

associated neoplasm?
Sjogren syndrome, Hashimotos

A

MALT lymphoma

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99
Q

associated neoplasm and etiologic agent?
Opisthorchis, cholangitis

A

cholangiocarcinioma
liver flukes (opisthorchis viverrini)

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100
Q

associated neoplasm and etiologic agent?
gastritis and gastric ulcers

A

gastric adenocarcinoma, MALT
Helicobacter pylori

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101
Q

associated neoplasm and etiologic agent?
hepatitis

A

hepatocelluar carcinoma
Hepatitis B and or C

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102
Q

associated neoplasm and etiologic agent?
osteomyelitis or skin fistula

A

carcinoma in draining sinuses
bacterial infection

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103
Q

associated neoplasm and etiologic agent?
chronic cervicitis

A

cervical carcinoma
HPV

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104
Q

associated neoplasm and etiologic agent?
chronic cystitis

A

bladder carcinoma
Schistosoma haematobium

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105
Q

____ doublings of a single cancer cell leads to 10^__ cells = __ grams of tumor

A

30
10^9
1 gram

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106
Q

what is the minimal size of a tumor for clinical detection

A

1 gram

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107
Q

ERBB1 (EGFR)
mode of activation:
associated human tumor:

A

mutation
adenocarcinoma of lung

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108
Q

ERRB2 (HER)
mode of activation:
associated human tumor:

A

amplification
breast carcinoma

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109
Q

RET
mode of activation:
associated human tumor:

A

point mutation
multiple endocrine neoplasia 2A and B

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110
Q

KIT
associated human tumor:

A

gastrointestinal stromal tumors

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111
Q

ALK
associated human tumor:

A

adenocarcinoma of lung

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112
Q

KRAS
associated human tumor:

A

colon, lung, pancreatic tumors

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113
Q

NRAS
associated human tumor:

A

melanomas, hematologic malignancies

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114
Q

GNAS
associated human tumor:

A

pituitary adenoma, other endocrine tumors

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115
Q

ABL
associated human tumor:

A

chronic myeloid leukemia
acute lymphoblastic leukemia

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116
Q

BRAF
associated human tumor:

A

melanomas

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117
Q

NOTCH1
associated human tumor:

A

leukemias, lymphomas, breast carcinoma

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118
Q

JAK2
associated human tumor:

A

myeloproliferative disorders

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119
Q

C-MYC
associated human tumor:

A

Burkitt lymphoma

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120
Q

N-MYC
associated human tumor:

A

neuroblastoma

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121
Q

CCND1 (Cyclin D)
associated human tumor:

A

Mantle cell lymphoma

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122
Q

oncogenes created by translocation:
Chronic Myelogenous Leukemia
translocation:
affected genes:

A

(9;22)(q34;q11)
ABL 9q34 / BCR 22q11

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123
Q

oncogenes created by translocation:
Burkitt Lymphoma
translocation:
affected genes:

A

(8;14)(q24;q32)
c-MYC 8q24 / IGH14q32

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124
Q

oncogenes created by translocation:
Ewing Sarcoma
translocation:
affected genes:

A

(11;22)(q24;q12)
FLI 11q24 / EWSR1 22q12

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125
Q

___ genes control development of fetus but can also lead to malignancies

A

PAX genes

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126
Q

function of p16/INK4a

A

binds to cyclin D-CDK4 and promotes the inhibitory effects of RB

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127
Q

function of p14/ARF

A

increases p53 levels by inhibiting MDM2 activity

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128
Q

function of RB

A

tumor suppressor– prevents G1/S transition

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129
Q

function of p53

A

tumor suppressor induced by DNA damage– causes cell cycle arrest and apoptosis

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130
Q

describe the 2 hit theory

A

Hit 1 is an inherited mutated gene
Hit 2 is a spontaneous somatic mutated gene

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131
Q

what is an example of a 2 hit theory familial cancer?

A

RB gene in retinoblastoma

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132
Q

what is the inherited predisposition to cancer?
APC

A

familial adenomatous polyposis/colon cancer

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133
Q

what is the inherited predisposition to cancer?
NF1, NF2

A

neurofibromatosis 1 and 2

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134
Q

what is the inherited predisposition to cancer?
PTCH

A

nevoid basal cell carcinoma syndrome

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135
Q

what is the inherited predisposition to cancer?
PTEN

A

Cowden Syndrome

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136
Q

symptoms of Cowden syndrome

A

skin, GI, and CNS hamarthomatous growths
breast, endometrial, and thyroid carcinomas

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137
Q

what is the inherited predisposition to cancer?
RB

A

retinoblastoma, osteosarcoma

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138
Q

what is the inherited predisposition to cancer?
VHL

A

renal cell carcinomas

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139
Q

what is the inherited predisposition to cancer?
CDH1

A

E-cadherin mutation in hereditary diffuse (familial) gastric cancer

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140
Q

what is the inherited predisposition to cancer?
Tp53

A

Li-Fraumeni syndrome

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141
Q

what is the inherited predisposition to cancer?
MSH2, MLH1, MSH6

A

hereditary nonpolyposis colorectal carcinoma (Lynch) Syndrome

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142
Q

what is the inherited predisposition to cancer?
BRCA1, BRCA2

A

breast, ovarian tumors

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143
Q

what is the inherited predisposition to cancer?
MEN1, RET

A

multiple endocrine neoplasia types 1 and 2

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144
Q

what is the inherited predisposition to cancer?
APC

A

familial adenomatous polyposis

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145
Q

what is the inherited predisposition to cancer?
PTCH

A

Gorlin Syndrome = nevoid basal cell carcinoma

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146
Q

what is the inherited familial syndrome and predisposition to cancer?
CDH1 (E-cadherin)

A

hereditary diffuse (familial) gastric cancer
gastric carcinoma, lobular breast carcinoma

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147
Q

what is the inherited familial syndrome and predisposition to cancer?
TP53 (p53 protien)

A

Li-Fraumeni Syndrome
most human cancers

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148
Q

what is the inherited familial syndrome and predisposition to cancer?
MSH2, MLH1, MSH6

A

hereditary nonpolyposis colorectal carcinoma (Lynch) Syndrome
colonic and endometrial carcinoma

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149
Q

what is the inherited predisposition to cancer?
WT1

A

Wilm’s tumor

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150
Q

what is the inherited familiar syndrome and predisposition to cancer?
MEN1

A

3 Ps: pituitary, parathyroid, and pancreatic endocrine tumors

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151
Q

condition that causes multiple hamartomas (usually skin and thyroid gland) d/t loss of PTEN tumor suppressor function

A

Cowden Syndrome

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152
Q

2 hit condition characterized by DNA mismatch repair abnormality leading to microsatellite instability

A

Hereditary nonpolyposis colorectal cancer (Lynch Syndrome)

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153
Q

MEN1 mutation causes what

A

Wermer Syndrome

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154
Q

Wermer Syndrome (MEN1 mutation) causes what three things?

A

pancreatic tumors
pituitary adenoma
parathyroid hyperplasia

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155
Q

MEN 2A mutation causes what

A

Sipple Syndrome

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156
Q

Sipple Syndrome causes what three things?

A

parathyroid hyperplasia
Medullary thyroid carcinoma
pheochromocytoma

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157
Q

MEN 2B mutation causes what 4 things?

A

medullary thyroid carcinoma
pheochromocytoma
Marfanoid body habitus
mucosal neuromas

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158
Q

FMTC mutation causes what 1 thing?

A

medullary thyroid carcinoma

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159
Q

describe the Warburg Effect

A

cancer cells tend to convert most glucose to lactate regardless of whether oxygen is present

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160
Q

mutation in genes encoding a variety of proteins involved in nucleotide excision repair of cross-linked pyrimidine dimers

A

xeroderma pigmentosa

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161
Q

ATM gene defect; involved in DNA repair; causes neurodegeneration with difficulty coordinating movements

A

ataxia telangiectasia

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162
Q

loss of function of helicase involved in DNA repair leading to short stature, sun-sensitivity, increased risk of cancer

A

Bloom Syndrome

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163
Q

abnormality in genes encoding DNA repair; associated with aplastic anemia, hypopigmentation, skeletal problems, and acute myeloid leukemia

A

Fanconi anemia

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164
Q

progressive loss of body fat and lean body mass accompanied by profound weakness, anorexia, and anemia

A

cancer cachexia

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165
Q

marasmus-like protein energy malnutrition seen with cancer

A

cancer cachexia

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166
Q

complex of symptoms that cannot be explained by spread of the tumor or hormones indigenous to the tumor tissue

A

paraneoplastic syndrome

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167
Q

paraneoplastic syndrome symptoms are from… (2)

A

products produced by cancer cells (hormones)
immune reaction of the body to the tumor cells

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168
Q

paraneoplastic syndromes:
Cushing Syndrome
underlying cancer:
mechanism:

A

small cell lung carcinoma
ACTH

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169
Q

paraneoplastic syndromes:
SIADH
underlying cancer:
mechanism:

A

small cell lung carcinoma
inappropriately secreted ADH

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170
Q

paraneoplastic syndromes:
hypercalcemia
underlying cancer:
mechanism:

A

squamous cell lung carcinoma
parathyroid hormone-related protein (PTHRP), TGF alpha, TNF, IL-1

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171
Q

paraneoplastic syndromes:
polycythemia
underlying cancer:
mechanism:

A

gastric carcinoma, renal carcinoma
erythropoietin

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172
Q

paraneoplastic syndromes:
Carcinoid Syndrome
underlying cancer:
mechanism:

A

hepatocellular carcinoma, bronchial adenoma, pancreatic carcinoma
serotonin, bradykinin

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173
Q

paraneoplastic syndromes:
Myasthenia
underlying cancer:
mechanism:

A

thymic neoplasms
immunological

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174
Q

paraneoplastic syndromes:
Acanthosis nigricans
underlying cancer:
mechanism:

A

gastric, lung, and uterine carcinoma
secretion of epidermal growth factor

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175
Q

paraneoplastic syndromes:
dermatomyositis
underlying cancer:
mechanism:

A

bronchogenic, breast carcinoma
immunological

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176
Q

paraneoplastic syndromes:
venous thrombosis (Trousseau phenomenon)
underlying cancer:
mechanism:

A

pancreatic carcinoma
tumor products (mucins that activate clotting)

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177
Q

paraneoplastic syndromes:
DIC
underlying cancer:
mechanism:

A

acute promyelocytic leukemia, prostatic carcinoma
tumor products that activate clotting

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178
Q

paraneoplastic syndromes:
Nonbacterial Thrombotic Endocarditis
underlying cancer:
mechanism:

A

advanced cancers
hypercoagulability

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179
Q

what is the most important prognostic indicator?

A

stage

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180
Q

grading neoplasms based on tissue differentiation (anaplasia)

A

histologic grade

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181
Q

grading neoplasms based on nuclear pleomorphism (bizarreness)

A

nuclear grade

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182
Q

tumor markers:
human chorionic gonadotropin

A

trophoblastic tumors, nonseminomatous testicular tumors

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183
Q

tumor markers:
calcitonin

A

medullary carcinoma of thyroid

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184
Q

tumor markers:
catecholamine and metabolites

A

pheochromocytoma

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185
Q

tumor markers:
ectopic hormones

A

paraneoplastic syndromes

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186
Q

tumor markers:
alpha fetoprotein

A

liver cell cancer, nonseminomatous germ cell tumors of testis

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187
Q

tumor markers:
carcinoembryonic antigen

A

carcinomas of the colon, pancreas, lung, stomach, and heart

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188
Q

tumor markers:
prostatic acid phosphatase

A

prostate cancer

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189
Q

tumor markers:
neuron-specific enolase

A

small-cell cancer of lung, neuroblastoma

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190
Q

tumor markers:
prostate-specific antigen and membrane antigen

A

prostate cancer

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191
Q

tumor markers:
CA-125

A

ovarian cancer

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192
Q

tumor markers:
CA-19-9

A

colon cancer, pancreatic cancer

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193
Q

tumor markers:
CA-15-3

A

breast cancer

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194
Q

haploid is ___ chromosomes

A

23

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195
Q

diploid is ___ chromosomes

A

46

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196
Q

cells that contain an extra or are missing a chromosome are termed

A

aneuploid

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197
Q

monosomy

A

only 1 copy of a chromosome

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198
Q

trisomy

A

3 copies of a chromosome

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199
Q

aneuploidy results from… during…

A

nondisjuction during meiosis (anaphase I or II)

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200
Q

Trisomy 21

A

Down Syndrome

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201
Q

Down syndrome karyotype

A

47, XX(or XY), +21

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202
Q

Trisomy 18

A

Edwards syndrome

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203
Q

cardiac defects, rocker feet, and poor prognosis (few survive first year) describes what syndrome

A

Edwards Syndrome (Trisomy 18)

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204
Q

Trisomy 18 more frequently results from nondisjunction during

A

meiosis II

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205
Q

Edwards Syndrome karyotype

A

47, XX (or XY), +18

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206
Q

Trisomy 13

A

Patau Syndrome

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207
Q

holoprosencephaly, cleft lip, and cardiac defects with a worse prognosis than Edwards describes

A

Patau Syndrome

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208
Q

Patau Syndrome karyotype

A

47, XX (or XY), +13

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209
Q

Monosomy of X chromosome

A

Turner Syndrome

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210
Q

short stature, gonadal dysgenesis, edema of foot at birth, and shortened 4th metacarpal describes what

A

Turner Syndrome

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211
Q

Turner syndrome karyotype

A

45, X

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212
Q

biologically male, macrocephaly, macroorchidism, and hypertelorism (wide set eyes) with risks of behavior disorders

A

47, XYY Syndrome

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213
Q

47, XXY

A

Klinefelter Syndrome

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214
Q

most frequent aneuploidy of sex chromosomes

A

Klinefelter (47, XXY)

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215
Q

hypogonadism, low testosterone, underdeveloped secondary sex characteristics, gynecomastia (breast development), and infertility describe what

A

Klinefelter Syndrome (47, XXY)

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216
Q

breakage of 2 nonhomologous chromosomes with exchange of broken fragment

A

reciprocal translocation

217
Q

describe the Philedelphia chromosome

A

balanced translocation between ABL on chromosome 9 and BCR on chromosome 22 that leads to constitutively active BCR-ABL tyrosine kinase –> chronic myelogenous leukemia

218
Q

parents with a balanced translocation can yield ____ in offspring

A

unbalanced translocation

219
Q

what involves 2 acrocentric chromosomes that fuse at the centromere

A

Robertsonian translocation

220
Q

Robertsonian translocation results in loss of

A

short arm

221
Q

5% of Down Syndrome cases are caused by inheriting the derivative chromosome from a

A

Robertsonian translocation

222
Q

loss of chromosome fragment at the end of a chromosome

A

terminal deletion

223
Q

loss of chromosome fragment at the center portion of arm

A

interstitial deletion

224
Q

small chromosomal deletions not detectable with banding

A

microdeletions

225
Q

deletion 5p

A

Cri-du-Chat Syndrome

226
Q

what causes a laryngeal defect leading to cat-like, high-pitched cries?

A

Cri-du-Chat Syndrome (deletion 5p)

227
Q

deletion at 4p16

A

Wolf-Hirschhorn Syndrome

228
Q

Wolf-Hirschhorn Syndrome is a deletion at

A

4p16

229
Q

what condition causes failure to thrive, ID, strong socialization skills with weak verbal skills

A

Wolf-Hirschhorn Syndrome

230
Q

22q11 deletion

A

DiGeorge Syndrome

231
Q

DiGeorge Syndrome is a deletion at

A

22q11

232
Q

condition that causes thymic hypoplasia, hypocalcemia, congenital heart defects

A

DiGeorge

233
Q

7q11.23 deletion

A

Williams Syndrome

234
Q

Williams Syndrome is a deletion at

A

7q11.23

235
Q

coctail party personality with low IQ, cardio defects

A

Williams Syndrome (7q11.23 microdeletion)

236
Q

duplication of PMP22 gene

A

Charcot-Marie-Tooth Disease type I

237
Q

what causes Charcot-Marie-Tooth disease?

A

duplication of PMP22 gene

238
Q

mechanism of Charcot-Marie-Tooth Disease

A

increased PMP22 in PNS results in demyelinating peripheral neuropathy

239
Q

in Charcot-Marie-Tooth Disease, sx present by age __ and include…

A

20
atrophy of lower leg mm., progressive weakness, foot deformities

240
Q

PMP22 is produced by _____

A

Schwann Cells

241
Q

chromosome inversion that does NOT include the region with the centromere

A

paracentric

242
Q

chromosome inversion that includes the centromere region

A

pericentric

243
Q

hemophilia A results from

A

chromosomal inversion

244
Q

hemophilia A results in decreased

A

factor VIII

245
Q

which chromosome abnormality results in seizures

A

ring chromosome 14 syndrome

246
Q

chromosomes divides perpendicular to the axis of cell division resulting in

A

isochromosomes

247
Q

chromosome with 2 copies of 1 arm and none of the other arm

A

isochromosome

248
Q

most common isochromosome occurs with the long arm of chromosome __
(___ Sydrome)

A

X
Turner Syndrome

249
Q

duplication of long arm (q) and no short arm (p) of X chromosome

A

Xp isochromosome

250
Q

what are the acrocentric chromosomes

A

13, 14, 15, 21, 22

251
Q

substitution of a nucleotide that results in change of amino acid

A

missense

252
Q

a change in the nucleotide sequence that results in a premature stop codon

A

nonsense

253
Q

an insertion or deletion that results in change of reading frame from protein synthesis

A

frameshift

254
Q

mutation in fibrillin-1 (FBN1) gene

A

Marfan Syndrome

255
Q

Marfan Syndrome mutation

A

loss of function mutation of FBN-1

256
Q

Marfan Syndrome causes abnormal ___ signaling

A

TGF-beta

257
Q

tall stature, ectopic lentis, joint hypermobility, aortic root aneurysm or dissection

A

Marfan Syndrome

258
Q

multiple phenotypic effects from a single allele or pair of alleles

A

pleiotropy

259
Q

define pleiotropy

A

multiple phenotypic effects from a single allele or pair of alleles

260
Q

function of fibrillin-1

A

sequesters TGF-beta

261
Q

different mutations in the same gene cause the same disorder

A

allelic heterogeneity

262
Q

define allelic heterogeneity

A

different mutations in the same gene cause the same disorder

263
Q

inheritance pattern of Marfan

A

autosomal dominant

264
Q

mutations in NF1

A

neurofibromatosis

265
Q

Neurofibromatosis is a mutation in

A

NF1

266
Q

multiple benign fleshy tumors or cafe au lait spots is characteristic of what syndrome and what mutation

A

neurofibromatosis
NF1

267
Q

same mutation can lead to variation in clinical phenotype

A

variable expressivity

268
Q

define variable expressivity

A

same mutation can lead to variation in clinical phenotype

269
Q

a person with a disease-causing phenotype may or may not exhibit the disease

A

reduced or incomplete penetrance

270
Q

inheritance of neurofibromatosis

A

autosomal dominant

271
Q

inheritance pattern of Charcot-Marie-Tooth Disese

A

autosomal dominant

272
Q

CHARGE Syndrome

A

Coloboma
Heart defects
Atresia of Choanae
Retardation of growth
genital underdevelopment

273
Q

what mutation causes CHARGE Syndrome

A

CHD7

274
Q

inheritance pattern of CHARGE Syndrome

A

autosomal dominant

275
Q

function CHD7 gene

A

helicase DNA binding protein 7 regulating chromatin remodeling

276
Q

normal CFTR facilitates rebsorption of

A

Cl and Na ions

277
Q

mutations in CFTR in sweat ducts lead to

A

hypertonic sweat (salty skin)

278
Q

CFTR mutations in respiratory and intestinal cells leads to

A

reduced Cl secretion and increased Na absorption

279
Q

CFTR mutation causes increased intracellular ions which leads to

A

increase water absorption

280
Q

CFTR mutations causes increased intracellular ions and water which causes what to the mucus

A

dehydrates it!

281
Q

reduced levels of adult hemoglobin

A

thalassemia

282
Q

beta-thalassemia follows what inheritance pattern

A

autosomal recessive

283
Q

sickle cell disease mutation

A

Glu6Val

284
Q

Glu6Val mutation leads to _____ (and what’s the mechanism?)

A

sickel cell disease
leads to beta-globin chain that leads. toHb aggregating when O2 is absent

285
Q

frameshift mutation in hexosamindase A gene (HEXA)

A

Tay-Sachs

286
Q

mutation causing Tay-Sachs

A

HEXA frameshift mutation

287
Q

mechanism of Tay-Sachs

A

build up of gangliosides in lysosomes of the neurons

288
Q

there is a higher incidence of Tay-Sachs in what population

A

Ashkenazi heritage

289
Q

Achondroplasia mutation

A

Gly380Arg mutation in FGFR3

290
Q

Gly380Arg mutation in FGFR3

A

Achondroplasia

291
Q

Gly380Arg mutation in FGFR3

A

Achondroplasia

292
Q

Gly380Arg results in a GOF mutation leading to

A

constitutively active tyrosine kinase receptor AND inhibiting chondrocyte proliferation

293
Q

Achondroplasia demonstrates ___ ____

A

incomplete dominance

294
Q

phenotype of more than 1 allele is shown at the same time

A

codominance

295
Q

ABO gene encodes…

A

a glycosyltransferase

296
Q

a single disease phenotype can be caused by mutations in different loci

A

locus heterogeneity

297
Q

define locus heterogeneity

A

a single disease phenotype can be caused by mutations in different loci

298
Q

what 4 genes are associated with hypertrophic cardiomyopathy

A

MYH7
MYBPC3
TNNI3
TNNT2

299
Q

what mutations lead to osteogenesis imperfecta

A

COL1A2, COL1A1

300
Q

mutations in COL1A2 or COL1A1

A

osteogenesis imperfecta

301
Q

what is affected in osteogenesis imperfecta

A

type I collagen

302
Q

mutation in LDLR gene

A

familiar hypercholesterolemia

303
Q

inheritance pattern of familiar hypercholesterolemia

A

autosomal dominant

304
Q

new mutation that was not present in the parents’ genome

A

de novo mutation

305
Q

de novo mutation arises in one cell in the early embryo resulting in the mutation only being in some of the cells

A

mosaicism

306
Q

explain X-inactivation

A

in all female cells, one X chromosome is condensed into a Barr body becoming silent

307
Q

more affected FEMALES than males suggests what inheritance pattern

A

X-Linked Dominant

308
Q

more affected MALES than females suggests what inheritance pattern?

A

X-Linked Recessive

309
Q

MECP2 gene mutation

A

Rett Syndrome

310
Q

inheritance pattern for Rett Syndrome

A

X-Linked dominant

311
Q

without the MECP2 protein (as seen in Rett Syndrome)…

A

genes are inappropriately expressed during brain development

312
Q

inheritance pattern of Vitamin D resistant Ricketts

A

X-linked Dominant

313
Q

PHEX gene mutation

A

Vitamin-D resistant Ricketts

314
Q

PHEX gene is involved in…

A

phosphate balance

315
Q

low serum phosphate is seen in

A

Vitamin-D resistant Ricketts

316
Q

inheritance pattern of Hemophilia A

A

X-linked recessive

317
Q

inheritance pattern of muscular dystrophy

A

X-linked recessive

318
Q

mutation causing muscular dystrophy?

A

DMD gene encoding dystrophin

319
Q

Duchenne vs. Becker muscular dystrophy?

A

Duchenne: frameshift mutation-more severe
Becker: inframe mutation-less severe

320
Q

there are elevated levels of ___ in Duchenne muscular dystrophy

A

creatine kinase

321
Q

95% of DMD patients have

A

cardiac disease! (cardiomyopathy, electrocardiographic abnormalities)

322
Q

inheritance of colorblindness

A

X-linked recessive

323
Q

measure of each genotype in a population

A

genotype frequency

324
Q

measure of the proportion of chromosomes that have a specific allele

A

allele frequency

325
Q

Hardy-Weinberg Equation

A

p^2 + 2pq + q^2 = 1

326
Q

3 reasons nonrandom mating may not occur

A

stratification
assortive mating
consanguinity

327
Q

describe stratification

A

subgroups that have remained relatively separated (socially, geographically, etc.) mate with each other

328
Q

describe assortive mating

A

choice of mate because mate possesses a specific trait (dwarfs mating with other dwarfs)

329
Q

mutation seen in deafness

A

GJB2

330
Q

describe consanguinity

A

related individuals mating

331
Q

consanguinity allows…

A

uncommon alleles to become homozygous

332
Q

describe genetic drift

A

explanation for high frequency of deleterious alleles in a population

333
Q

describe Bottleneck effect

A

drastic reduction in the population size

334
Q

describe the Founder effect

A

subpopulation breaks off from the larger population

335
Q

Consanguinity in a small Amish population lead to increased occurrence of Ellis-van-Crevald Syndrome… this is an example of what?

A

Founder Effect

336
Q

mutation causing Ellis-van-Crevald Syndrome

A

EVC, EVC2

337
Q

describe heterozygote advantage

A

mutant alleles are deleterious as homozygotes but are beneficial as heterozygote

338
Q

mutant alleles are deleterious as homozygotes but are beneficial as heterozygote

A

heterozygote advantage

339
Q

what is an example of heterozygote advantage?

A

sickle cell and malaria
heterozygotes for sickle cell trait are more resistant to malaria

340
Q

a variation in DNA sequence that is found in at least 1% of the population

A

genetic polymorphism

341
Q

a variation in DNA sequence that is found in less than 1% of the population

A

rare variant

342
Q

describe replicative segregation in mitochondria

A

mitoDNA and mito are replicated and RANDOMLY assigned during cell division

343
Q

define homoplasmy (mitoDNA)

A

the cell contains all mutant or all normal mtDNA

344
Q

define heteroplasmy (mitoDNA)

A

the cell contains a mixture of mtDNA, mutant and normal

345
Q

4 sx of mitochondrial disorders

A

encephalopathy
myopathy
ataxia
retinal degeneration

346
Q

what is MERRF? and what causes it?

A

Myoclonic Epilepsy and Ragged-Red Fiber disease
caused by mitochondrial disorder

347
Q

what is MELAS Syndrome? and what causes it?

A

Mito encephalomyopathy, lactic acidosis, and stroke-like episodes
caused by a mitochondrial disorder

348
Q

what causes Leigh Syndrome

A

point mutation in MT-ATP6 gene

349
Q

what is LHON and what causes it?

A

Leber Hereditary Optic Neuropathy
point mutation in ND4 gene

350
Q

define anticipation in regard to unstable repeat inheritance

A

sx become more severe or start at an earlier age as a disease is passed on to the next generation

351
Q

expansion of CAG sequence of HTT gene

A

Huntington Disease

352
Q

Huntingtons:
expansion of ___ sequence of ___ gene leading to increased ____ in the _____ protein

A

CAG
HTT
glutamine residues
huntington

353
Q

inheritance of Huntingtons

A

autosomal dominant

354
Q

Huntington sx

A

clumsiness
agitation
jerky involuntary movements

355
Q

expansion of CGG sequence in the 5’ UTR of the FMR1 gene

A

Fragile X Syndrome

356
Q

Fragile X Syndrome:
expansion of ___ sequence in the ___ region of the ___ gene, this leads to silencing of the gene through _____

A

CGG
5’ UTR
FMR1
DNA methylation

357
Q

sx of fragile X

A

ID
shy personality
large testicles

358
Q

mutation causing Myotonic Dystrophy

A

DMPK gene

359
Q

DMPK gene mutation

A

Myotonic Dystrophy

360
Q

Myotonic Dystrophy:
mutation in ___ that causes ___ repeat in ___ region which prevents ____

A

DMPK
CTG
3’ UTR
mRNA transport to cytoplasm

361
Q

the addition of epigenetic factors thhat turn. thegene off during gametogenesis

A

genetic imprinting

362
Q

genes turned off during spermatogenesis

A

paternal imprinting

363
Q

genes turned off during oogenesis

A

maternal imprinting

364
Q

why must imprinting be reversible?

A

so that individuals can pass all of their genetic material on

365
Q

chromosomal deletion in the long arm of chromosome 15 on FATHER’s chromosome

A

Prader-Willi Syndrome

366
Q

which gene is imprinted in prader willi?

A

maternal

367
Q

chromosomal deletion in the long arm of 15 on MOTHER’s chromosome

A

Angelman Syndrome

368
Q

sx of Angelman Syndrome

A

extremely happy!
sapstic
ID

369
Q

which gene is imprinted in Angelmans?

A

paternal

370
Q

what condition results from paternal uniparental disomy of chromosome 11

A

Beckwith-Wiedemann Syndrome

371
Q

what causes Beckwith-Wiedemann Syndrome

A

paternal UPD of chromosome 11

372
Q

what condition results from maternal uniparental disomy of chromosome 7

A

Silver-Russell Syndrome

373
Q

what causes Silver Russell-Syndrome?

A

maternal UPD of chromosome 7

374
Q

timeframe for term “embryo”

A

implantation - first 8 weeks in utero

375
Q

timeframe for term “fetus”

A

9 weeks - birth

376
Q

timeframe for term “neonatal”

A

first 4 weeks after birth

377
Q

timeframe for term “perinatal”

A

5 months before birth - 1 month after birth

378
Q

timeframe for term “infancy”

A

first year after birth

379
Q

timeframe for term “childhood”

A

between birth and puberty/adulthood

380
Q

what is the most common cause of death in infants age 2-12 months

A

SIDS

381
Q

define malformations

A

intrinsic abnormal development (abnormal morphogenesis)

382
Q

what is polydactyly and syndactyly and what are they an example of

A

too many fingers and fused fingers
malformations

383
Q

anencephaly and acardia are examples of

A

malformations

384
Q

define disruptions

A

secondary destruction of previously normal structure

385
Q

amniotic bands are examples of

A

disruptions

386
Q

define deformations

A

structure deformed during development from external pressure (was never normal but tried to be)

387
Q

uterine constraint and oligohydramnios are examples of

A

deformations

388
Q

what is a “sequence”

A

cascade of anomalies set off by one initiating factor

389
Q

what is a malformation syndrome?

A

constellation of congenital anomalies that cannot be explained by a single initiating event

390
Q

describe the Potter Sequence

A

renal agenesis causes oligohydramnios which then causes fetal compression –>pulm hypoplasia, amnion nodosum, breech

391
Q

what does TORCH stand for?

A

toxoplsma gondii
other
rubella
CMV
HSV

392
Q

agenesis vs aplasia

A

agenesis: no organ and NO PRIMORDIUM
aplasia: no organ but primordium is/was present

393
Q

what are two possible results of dysplasia of abdominal wall

A

omphalocele
gastroschisis

394
Q

abdominal mm. fail to form

A

omphalocele

395
Q

abdominal wall fails to form

A

gastroschisis

396
Q

abdominal organs seen in chest cavity and hypoplastic lungs can insinuate a

A

diaphragmatic hernia

397
Q

diaphragmatic hernias are a result of

A

dysplasia

398
Q

at what period of gestation is it most dangerous for exposure to teratogens

A

4-5 weeks

399
Q

what is the heart at risk of if exposed to a teratogen <6 weeks gestation

A

ventricular septal defect

400
Q

when does rubella usually infect the fetus

A

conception - 16 weeks

401
Q

what is the rubella embryopathy tetrad

A

cataracts, deafness, heart defects, ID

402
Q

when does CMV usually infect the fetus

A

2nd trimester

403
Q

sx of CMV infection in fetus (4)

A

microcephaly, ID, deafness, hepatosplenomegaly

404
Q

thalidomide exposure causes what in a fetus

A

limb develop problems

405
Q

valproic acid embryopathy disrupts ___ that control ____

A

HOX genes
craniofacial and limb formation

406
Q

what is the most common cause of intellectual disability

A

Fetal Alcohol Syndrome

407
Q

fetal alcohol syndrome causes _____ defects which leads to facial dysmorphism

A

neural crest migration defects

408
Q

facial sx of fetal alcohol syndrome (3)

A

microcephhaly
maxillary hypoplasia
flat, thin upper lip (lack of philtrum)

409
Q

where are Phthalates found?

A

in flexible plastics such as tubing in hospitals

410
Q

babies who have been hospitalized and hooked up to tubing are at risk of what?

A

phthalate exposure causing testicular dysgenesis syndrome

411
Q

in a 10 lb baby, you should think what?

A

maternal diabetes

412
Q

birth wt >4,000 g

A

fetal macrosomia

413
Q

bloody scalp–just deep to skin (most common)

A

caput succedaneum

414
Q

hemorrhage under skin and aponeurosis (common)

A

cephalhematoma

415
Q

bleeding within the cranium (not common)

A

intracranial hemorrhage

416
Q

HOXD13 mutations cause

A

syndactyly/polydactlyly

417
Q

HOXA13 mutations cause

A

hand-foot-genital syndrome

418
Q

sodium valproate disrupts ___ cuasing ____

A

HOX genes
craniofacial defects

419
Q

Retinoic acid deficiency or excess disrupts _____

A

HOX genes

420
Q

PAX2 mutation causes

A

renal-coloboma syndrome

421
Q

PAX3 mutations cause

A

Waardenburg Syndrome

422
Q

PAX6 mutations cause

A

aniridia (absence of iris)

423
Q

a single transverse palmar crease (Simian crease) can suggest what abnormality

A

trisomies

424
Q

neural tube defects can be caused by

A

folic acid (B9) deficiency

425
Q

genetic cause of congenital dislocation of the hip presents how?

A

shallow acetabulum, ligament laxity

426
Q

what does APGAR stand for

A

Appearance
Pulse
Grimace
Activity
Respiration

427
Q

premature is <__ weeks

A

37 wks

428
Q

implantation in lower uterus

A

placenta previa

429
Q

fusion of uterus and placenta

A

placenta accreta

430
Q

what is an example of confined placental mosaicism

A

trisomy 7

431
Q

what is another name for Neonatal Respiratory Distress Syndrome?

A

Hyaline Membrane Disease

432
Q

what is the cause of hyaline membrane disease in neonates

A

deficiency of pulmonary surfactant

433
Q

what hormones modulate surfactant synthesis

A

cortisol
insulin

434
Q

what ratio can be looked at to determine maturity of lungs and where is it sampled from

A

lecithin-sphingolyelin ratio
sample amniotic fluid

435
Q

a lecithin-sphingolyelin ratio >__ indicates mature lungs in neonates

A

2

436
Q

a lecithin-sphingolyelin ratio <__ indicates immature lungs

A

1.5

437
Q

RDS

A

respiratory distress syndrome

438
Q

what are two risks of treating neonates with RDS with O2?

A

retinopathy
bronchopulomary dysplasia

439
Q

why can tx of RDS with O2 cause retinopathy?

A

O2 therapy causes decreased VEGF and apoptosis
then when on room air, VEGF is increased and you get angiogenesis

440
Q

the risk of bronchopulmonary dysplasia in O2 tx for RDS is arrested at what stage?

A

saccular

441
Q

intestinal ischemia and elevated platelet activating factor in stool indicates

A

necrotizing enterocolitis

442
Q

when does necrotizing enterocolitis usually occur

A

after oral feeding

443
Q

subependymal (periventricular) hemorrhage with extension into ventricles that occurs in preterm infants

A

germinal matrix hemorrhage

444
Q

transcervical vs. transplacental infections

A

transcervical are ascending through vagina and cervix
transplacental are hematologic

445
Q

fifth disease

A

parvovirus B19

446
Q

most common early onset (0-7 days) perinatal infection

A

Group B strep

447
Q

what three things can Group B strep cause in neonates

A

meningitis
sepsis
pnx

448
Q

examples of immune hydrops

A

Rh incompatibility
ABO incompatibility

449
Q

where does extramedullary hematopoiesis occur and what is it in response to

A

liver, spleen, and lymph nodes
tissue hypoxia (anemia, hypoperfusion)

450
Q

describe Kernicterus

A

non-water-soluble unconjugated bilirubin deposits in the brain after birth

451
Q

increased levels of what are seen in kernicterus

A

unconjugated hyperbilirubinemia

452
Q

prevention of kernicterus includes what

A

UCJ bilirubin + UV lights –> dipyrroles

453
Q

self-mutilation

A

Lesch-Nyham Syndrome

454
Q

mousy or musty

A

PKU

455
Q

maple syrup

A

maple syrup disease

456
Q

cataracts

A

galactosemia

457
Q

cherry red macula

A

Tay-Sachs, GM1

458
Q

dislocated lens

A

homocystinuria, Marfans

459
Q

unexplained death of an infant <1 y/o after investigation, autopsy, and review

A

SIDS

460
Q

primary vs. secondary malnutrition

A

primary is dietary cause
secondary is d/t a medical disorder

461
Q

caloric deprivation with wt <60% of normal

A

Marasmus

462
Q

protein deprivation and pure cab diet (presents with edema)

A

Kwashiorkor

463
Q

edema seen in Kwashiorkor is d/t

A

low levels of serum proteins (albumin, transferrin)

464
Q

severe trauma, burns, and sepsis can cause

A

Kwashiorkor-like malnutrition

465
Q

normal cells from a tissue in the wrong place

A

choristoma (or heteroptopia)

466
Q

abnormally arranged overgrowth of cells that usually develop in the given organ

A

hamartoma

467
Q

what is the most common tumor of infancy

A

hemanigoma

468
Q

teratoma more common in females and 10% are associated with congenital anomalies

A

sacrococcygeal teratoma

469
Q

many childhood tumors are immature (primitive cells) so their names end in -______

A

blastoma

470
Q

what malignancy accounts for more deaths in children than all other tumors combined?

A

leukemia (ACUTE LYMPHOBLASTIC LEUKEMIA)

471
Q

most common SOLID tumor in children 0-4 y/o

A

CNS tumors

472
Q

second most common SOLID tumor in children 0-4 y/o

A

neuroblastoma

473
Q

most common malignant neoplasm of INFANCY (1-12 mo)

A

neuroblastoma

474
Q

markers of Neuroblastoma (2) – pediatric malignancies

A

N-myc amplification
elevated urinary catecholamines (VMA, HVA)

475
Q

marker for lymphoblastic leukemia – pediatric malignancies

A

TdT+

476
Q

neural tumor with no ganglion cells

A

neuroblastoma

477
Q

neural tumor with some ganglion cells

A

ganglioneuroblastoma

478
Q

neural tumor with more ganglion cells and minimal-no neuroblasts

A

ganglioneuroma

479
Q

small blue cell tumor that may have Homer Wright Pseudorosettes

A

neuroblastoma

480
Q

distinguish between stage 4 and 4S Neuroblastoma

A

4: dissemination to distant LNs, bone, bone marrow, liver, skin and other organs
4S: dissemination limited to skin, liver, and/or bone marrow

481
Q

favorable age for neuroblastomas

A

<18 months

482
Q

most common malignant eye tumor of childhood

A

retinoblastoma

483
Q

most common renal tumor in children

A

Wilms Tumor (Nephroblastoma)

484
Q

mutation causing Wilms Tumor

A

WT1 mutation 11p13

485
Q

what myeloid leukemia is most commonly associated with Down Syndrome?

A

acute myeloid leukemia with megakaryocytic maturation (M7)

486
Q

is AMkL or ALL (acute lymphoblastic leukemia) more common in Down Syndrome?

A

ALL

487
Q

most common lysosomal storage disorder?

A

Gaucher Disease

488
Q

splenomegaly, low platelet count and anemia, Erlenmeyer flask deformities of bone (splenic and skeletal problems)

A

Gaucher Disease type I

489
Q

Homer-Wrighht Rosettes are seen in what condition

A

Neuroblastoma

490
Q

describe stage 4S of Neuroblastomas

A

localized primary tumor with dissemination limited to skin, liver, and/or bone marrow (limited to infants younger than a year!)

491
Q

Flexner-Wintersteiner Rosettes are seen in what condition?

A

Retinoblastoma

492
Q

mutations in TGF beta receptors 1 and 2 (similar changes in aorta to Marfan)

A

Loeys-Dietz Syndrome

493
Q

condition with ONLY aortic and/or brain aneurysms (nothing else)

A

Familial Thoracic Aneurysm and Dissection Syndrome

494
Q

COL2A1 or COL11A1 mutations that presents similar to Marfan except SHORT stature

A

Stickler Syndrome

495
Q

MASS Phenotype is similar to Marfan except for there is no…

A

progression or aneurysm or predisposition to dissection

496
Q

cherry red cyanosis

A

CO poisoning

497
Q

mechanism of CO poisoning

A

> 200x affinity for Hb vs. oxygen

498
Q

Burton lines of gingiva

A

lead poisoning

499
Q

radiodense lines

A

lead poisoning

500
Q

basophilic stippling of RBC

A

lead poisoning

501
Q

mechanism of lead poisoning

A

binds sulfhydryl groups of cations (i.e. Ca)

502
Q

hematologically, lead inhibits what enzymes?

A

heme synthesis
(ferrochelatase and delta aminolevulinic acid dehydratase)

503
Q

which form of Mercury is most common and where is it found

A

organic
contaminated fish

504
Q

pain and dusky pink discoloration of hands and feet (term and when is it found)

A

acrodynia
mercury poisoning

505
Q

mechanism of Mercury poisoning

A

binds sulfhydryl groups of proteins

506
Q

where is arsenic found?

A

pesticides
contaminated ground water
rice, shellfish contamination

507
Q

mechanism of arsenic toxicity

A

prevents pyruvate –> acetyl CoA
prevents ADP –> ATP

508
Q

hyperkeratoses and altered skin pigmentation of hands (term and when is it found)

A

arsenical keratoses (arsenic poisoning)

509
Q

arsenic poisoning increases risk of

A

squamous cell carinoma of hands

510
Q

Mees lines on nails

A

arsenic poisoning

511
Q

where is Cadmium found

A

batteries
smoking
contaminated food

512
Q

mechanism of cadmium poisoning

A

binds sulfhydryl groups of proteins
competitively binds divalent cations (Ca, Zn)

513
Q

flu-like symptoms is indicative of what acute toxicity

A

cadmium

514
Q

dry-cleaning, paint removal (2)

A

CCl4
chloroform

515
Q

Warfarin is a ___ antagonist affecting clotting factors ____

A

vitamin K
II, VII, IX, X

516
Q

Oral contraceptives increase risk of ___ (3) and decrease risk of ____

A

thromboembolism, CV disease, cervical CA
endometrial and ovarian CA

517
Q

cocaine blocks reuptake of

A

dopamine (CNS)
E and NE (SNS)

518
Q

amphetamines are ___ stimulants

A

sympathhomimetic

519
Q

describe 1st-4th degree burns

A

1st: superficial, painful, no blistering
2nd: superficial-deep dermis, painful, blister
3rd: entire dermis into subQ, painless
4th: full thickness thorugh subQ

520
Q

severe acute burn injury can cause

A

hypovolemia

521
Q

two types of exertional hyperthermia

A

heat cramps
heat exhaustion <40 degrees

522
Q

type of nonexertional or exertional hyperthermia

A

failure of thermoregulation >40 degrees

523
Q

hypothermia

A

<35 degrees

524
Q

low dose ionizing radiation causes

A

hematopoietic issues (risks of infection)

525
Q

mid dose of ionizing radiation causes

A

intestinal issues (diarrhea)

526
Q

high dose of ionizing radiation causes

A

brain damage (BBB compromised)

527
Q

condition d/t caloric deprivation

A

marasmus

528
Q

condition d/t protein deprivation

A

kwashiorkor

529
Q

cachexia is d/t

A

hypercatabolic state secondary to TNF-alpha

530
Q

self-induced starvation with presentation like severe acute malnutrition

A

anorexia nervosa

531
Q

binge eating and induced vomiting

A

bulimia

532
Q

functions of vitamin A

A

vision
lipid metabolism
fight infection
regulates growth and differentiation

533
Q

three effects of vitamin A deficiency

A

keratomalacia
keratinizing metaplasia
papular follicular rash

534
Q

outline vitamin D metabolism

A

converted to 25(OH)D in the liver
converted to 1,25-dihydroxyvitD in the kidney (active)
stimulates expression of RANKL–>regulates osteoclasts

535
Q

vitamin D deficiency is kids vs adults

A

Rickets vs Osteomalacia

536
Q

sx of vitamin C deficiency

A

bleeding gums, skin, joints
impaired wound healing

537
Q

metabolic syndrome (4)

A

obesity
dyslipidemia
HTN
insulin resistance

538
Q

low fiber + high animal fat puts you at risk for

A

colon cancer

539
Q

how to reduce risk of atherosclerosis

A

decrease saturated animal fat
restrict dietary sodium

TCM (2 decks)

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