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Midterm Flashcards

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Biology 101 flashcards
1
Q

Law of Segregation:

A

Dominant and recessive traits exist and are passed on from parent to offspring

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2
Q

Law of Independent Assortment:

A

Traits are passed independently of other traits from parents to offspring

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3
Q

Penetrance:

A

Disease is expressed in 100% of people with a particular genotype, complete or incomplete

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4
Q

Adenine pairs with?

A

Thymine

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5
Q

Guanine pairs with?

A

Cytosine

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6
Q

A/T has how many H bonds?

A

Two

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7
Q

G/C has how many H bonds?

A

Three

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8
Q

Chargaff’s Rule:

A

The total number of purines in a DNA molecule is equal to the total number of pyrimidines

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9
Q

Purines

A

A, G

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10
Q

Pyrimidines

A

T, C

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11
Q

Thymine is replaced with X on mRNA

A

Uracil

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12
Q

DNA is synthesized in what direction?

A

5’ to 3’

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13
Q

The 5’ end houses what molecule?

A

Phosphate group

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14
Q

The 3’ end houses what molecule?

A

Hydroxyl Group

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15
Q

During DNA translation the mRNA is transported from X to Y?

A

Nucleus to cytoplasm

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16
Q

Start codon

A

AUG

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17
Q

Stop codon

A

UAA, UAG, UGA

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18
Q

How many chromosomes do humans have?

A

46 chromosomes

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19
Q

Pseudogenes:

A

Non-functioning copies of genes

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20
Q

Describe the structure from DNA to chromosome:

A

DNA -> nucleosomes (with histones) -> chromatin -> chromatin loops -> condensed chromatin loops -> chromosomes

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21
Q

Locus

A

location of a particular gene on a chromosome

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22
Q

Allele

A

homologous copies of a gene

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23
Q

Germinal mutation

A

Occurs during formation of an egg or sperm

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24
Q

Somatic mutation

A

Mutation occurs after conception

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25
Q

Chromosomal aberration

A

alteration in the number or the physical structure of a chromsome

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26
Q

What’s the most common trisomy?

A

Down Syndrome

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27
Q

Risk for Down Syndrome increases with advanced maternal age, what age?

A

35

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28
Q

When does the non-disjunction occur?

A

Meiosis II

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29
Q

Characteristics of a newborn with Down Syndrome:

A

hypotonia, flat facial features, enlarged and protruding tongue, small nose, upward slant of eyes, abnormally shaped ears, decreased palmar crease, hyperflexibility, extra space between first and second toe, brushfield spots

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30
Q

Clinical manifestations of Down Syndrome

A

cardiac defects, intestinal malformations, growth impairment, vision abnormalities, hearing loss, recurrent respiratory infections, behavioral issues, memory loss with an increased risk of Alzheimer’s at an early age

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31
Q

Klinefelter Syndrome genotype

A

XXY

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32
Q

Fertility in those with Klinefelter syndrome?

A

Usually sterile, impaired spermatogenesis

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33
Q

What is the most common genetic abnormality associated with primary hypogonadism?

A

Klinefelter Syndrome

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34
Q

Those with Klinefelter Syndrome will have:

A

small testes with low sperm count, decreased serum testosterone, abnormal arm and leg length, increased risk of breast cancer and pulmonary disease, feminine appearing breasts

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35
Q

Turner Syndrome genotype

A

XO

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36
Q

Clinical manifestations of Turner Syndrome

A

female apperance, short wide chests, prominent neck folds, usually sterile, low estrogen, small breasts, normal mental development

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37
Q

Consequences of Turner Syndrome

A

primary amenorrhea, osteoporosis, diabetes/hypertension/hyperlipidemia, aortic dissection

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38
Q

What should be asked when collecting family history?

A

age, sex, ethnicity, general health, major illness/disease process, cause of death

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39
Q

Name our autosomal dominant diseases:

A

HD, familial hypercholesterolemia, NF1, PKD

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40
Q

Name our autosomal recessive diseases:

A

PKU, sickle cell anemia, CF, thalassemia

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41
Q

Name our X-linked dominant disease:

A

Fragile X Syndrome

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42
Q

Name our X-linked recessive diseases:

A

Hemophilia, Duchenne’s Muscular Dystrophy, Red-Green color blindness

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43
Q

Inborn error of metabolism:

A

some genetic disorders lead to errors in the synthesis of proteins

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44
Q

Phenylketonuria is a defect in X? cause Y to accumulate.

A

phenylalanine hydroxylase causing phenylalanine to accumulate

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45
Q

What is defective in cystic fibrosis?

A

Cystic fibrosis transmembrane conductor regulator (CFTR) gene

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46
Q

What does the CFTR gene do?

A

helps regulate chloride channels in epithelial cells. Allows for chloride to be excreted and excess sodium uptake is inhibited, thus water content of secretions maintained.

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47
Q

CF follows what inheritance pattern?

A

Autosomal recessive

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48
Q

Most common CF mutation is?

A

F508

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49
Q

In Caucasians without a family history of CF, the risk of being a carrier is?

A

1/25

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50
Q

What is the life expectancy of someone with CF?

A

37 yo

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51
Q

What is the most common inherited disorder among Caucasians in the US?

A

Cystic fibrosis

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52
Q

How are newborns tested for CF?

A

Presence of increased levels of immunoreactive trypsinogen (IRT), a pancreatic protein linked to CF

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53
Q

Fertility in CF?

A

98% of males are infertile due to absence of vas deferens

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54
Q

What type of heart failure may a CF patient experience?

A

cor pulmonale (right-sided heart failure)

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55
Q

Severe Combined Immunodeficiency (SCID): deficiency of

A

deficiency of B cells and T cells which allow humans to fight off serious infections

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56
Q

What’s the most common gene implicated in SCID?

A

defect in IL2RG (interleukin 2 receptor gamma)

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57
Q

How is SCID identified in newborn screenings?

A

biomarkeres for naive T cells

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58
Q

What % of the sperm deposited in the vagina enters the cervix?

A

1%

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59
Q

Where does fertilization occur?

A

widest part of the Fallopian tube, the ampullary region

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60
Q

What are the three phases of human development?

A

pre-embryonic, embryonic, fetal

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61
Q

Timeframe for pre-embryonic phase?

A

After fertilization and ends with implantation (week 1)

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62
Q

What occurs at day three of human development?

A

zygote starts to undergo cellular division and eventually forms a morula

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63
Q

What does the morula become after accumulates fluid?

A

Forms a blastocyst

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64
Q

What does the inner cell mass become?

A

Embryo

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65
Q

What does the trophoblast become?

A

Placenta

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66
Q

What happens at days 6 or 7 of human development?

A

Blastocyst will attach to uterine wall and begin to digest uterine wall for nourishment

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67
Q

What is the timeframe for the embryonic stage?

A

day 8 through week 8

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68
Q

What begins to differentiate within the ICM:

A

Ectoderm, mesoderm, endoderm

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69
Q

Ectoderm:

A

epidermis, hair, nails, sweat glands, brain and spinal cord, ocular structures, inner ear, nasal, oral, anal epithelium

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70
Q

Mesoderm:

A

dermis, muscles, cartilage, bone, blood, reproductive organs, teeth enamel

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71
Q

Endoderm:

A

digestive tract lining, respiratory tract lining, urethra and bladder, gallbladder, liver, and pancreas, thyroid, parathyroid, thymus, kidneys

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72
Q

What’s the time frame for the fetal stage?

A

week 8 to birth (40 weeks from LMP)

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73
Q

When is growth rate of length rapid?

A

3rd-5th month

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74
Q

When does rapid weight accelerations occur in pregnancy?

A

last 2 months

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75
Q

Principles of teratogenesis:

A

susceptibility to teratogens is variable, susceptibility specific for stage development of embryo or fetus, mechanism of teratogen is specific for each teratogen, teratogenesis is dose dependent, teratogens produce death/growth retardation/malformation/functional impairment

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76
Q

% of fertilization that end in spontaneous abortion

A

31%

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77
Q

% of infants born with structural abnormalities

A

3%

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78
Q

What is the critical period for teratogenesis?

A

3-16 weeks (organogenesis)

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79
Q

If teratogenesis occurs during preimplantation what is the result?

A

spontaneous abortion

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80
Q

If teratogenesis occurs during embryonic stage what is the result?

A

spontaneous abortion, structural malformation

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81
Q

If teratogenesis occurs during fetal stage what is the result?

A

CNS, growth restriction, neurobehavioral, reproductive effects, fetal demise

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82
Q

Some of the fetus’s blood vessels are contained in X that extend into the wall of the uterus

A

villi of the placenta

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83
Q

complete absence of limb or limbs

A

amelia

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84
Q

partial absence of limb

A

meromelia

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85
Q

absence of long bones with hands and feet attached to trunk with small rudimentary bones

A

phocomelia

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86
Q

Deformities associated with thalidomide

A

deafness, blindness, cleft palate, malformations of inner and outer ears

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87
Q

What was the legislation that was passed following thalidomide tragedy?

A

Kefauver-Harris Drug Amendments Act in 1962

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88
Q

Women who were prescribed DES while pregnant experience:

A

modest increase in the relative risk for breast cancer

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89
Q

DES daughters are at risk for:

A

clear-cell adenocarcinoma

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90
Q

Risk of clear-cell adenocarcinoma for DES daughtesr

A

1/1000

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91
Q

Incidence of clear-cell adenocarcinoma peaks at age?

A

20

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92
Q

DES daughters experience a twofold increase in?

A

vaginal and cervical intraepithelial neoplasm

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93
Q

Fertility of DES daughters?

A

infertility and poor pregnancy outcomes due to malformation of uterus, decreased endometrial thickness, reduced uterine perfusion

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94
Q

DES sons experience:

A

epidydimal cysts, microphallus, cryptorchidism, testicular hypoplasia, decreased sperm count

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95
Q

DES son fertility?

A

Fertile

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96
Q

Unit of supplemental vitamin A that increases risk of deformity

A

10,000 units

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97
Q

Babies born to mothers taking X units or more are 4x more likely to develop: cleft lip, cleft palate, hydrocephalus, cardiac deformities

A

20,000 units

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98
Q

What is isotretinoin (Accutane)?

A

Vitamin A isomer of 13-cis-retinoic acid

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99
Q

What is the most potent teratogen currently in use?

A

isotretinoin (accutane)

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100
Q

What program is associated with accutane use?

A

iPLEDGE

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101
Q

What does iPLEDGE entail?

A

two forms of birth control 1 month prior, during, and 1 month after. Two negative pregnancy tests prior to starting. Monthly pregnancy tests during and 1 month after.

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102
Q

Use of angiotensin converting enzyme (ACE) inhibitors during 2nd and 3rd trimester cause?

A

growth retardation, renal dysfunction, fetal demise, and oligohydraminos

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103
Q

Selective Serotonin Reuptake Inhibitors (SSRIs) can result in:

A

increased cardiovascular defects, spontaneous abortion

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104
Q

Late exposure to SSRIs can cause

A

transient newborn respiratory distress

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105
Q

Anticonvulsant expsosure results in:

A

cleft palate, cleft lip, atrial septal defects, spina bifida, developmental delay, limb abnormalities

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106
Q

Use of NSAIDs during first trimester:

A

increased risk of having a baby with cardiac ventricular and septal defects

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107
Q

Use of NSAIDs during third trimester:

A

pulmonary hypertension

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108
Q

First trimester exposure to warfarin (coumadin)

A

nasal hypoplasia, long bone development abnormalities, limb hypoplasia

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109
Q

Benzodiazepine use:

A

neonatal withdrawal, hypotonia, cyanosis, floppy infant syndrome

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110
Q

The fetus eliminates alcohol at a rate of % of that of the mother

A

3-4%

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111
Q

Smallest effects recognized at X drinks/day and become more evident at x drinks/day

A

2, 4

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112
Q

Most FAS occurs in mothers who are alcoholics (x drinks/day)

A

8-10

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113
Q

Physical features of FAS

A

railroad track ears, ptosis, decreased elbow pronation/supination, incomplete extension of digits, defects in palmar crease = hockey stick crease

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114
Q

Prenatal nicotine exposure can reduce the cardiorespiratory response to low oxygen levels in sleep which can lead to

A

SIDS

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115
Q

Smoking can result in the following risks to the mother:

A

infertility, placenta previa, preterm premature rupture of membranes, placental abruption

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116
Q

Nicotine exposure can lead to:

A

cleft lip or plate, gastroschisis, atresia, LBW

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117
Q

What is the most commonly abused illicit drug of pregnancy?

A

Marijuana

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118
Q

Cocaine can lead to: (in the mother)

A

MI, arrhythmias, aortic rupture, CVA, seizure, bowel ischemia, sudden death

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119
Q

Cocaine can lead to: (fetus)

A

spontaneous abortion, fetal demise, premature birth, tremors, high-pitched cry, excess suck, hyper-alterness, apnea or tachypnea

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120
Q

Cocaine can stay in the infants system for?

A

7 days

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121
Q

Chronic heroin use is associated with:

A

fetal growth restriction, abruptio placenta, fetal death, preterm labor, intrauterine passage of meconium, high-pitched cry, poor feeding, hypertonicity, GI distress, seizures, small for gestational age

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122
Q

TORCH stands for:

A

Toxoplasmosis, other, rubella, cytomegalovirus, herpes simplex

123
Q

Toxoplasmosis is what type of infection?

A

protozoan parasite

124
Q

How is toxoplasmosis spread?

A

fecal matter of cats, undercooked meat

125
Q

Symptoms of toxoplasmosis in mother?

A

asymptomatic, fatigue, fever, headache, malaise, myalgia, lymphadenopathy

126
Q

Symptoms of toxoplasmosis in baby?

A

chorioretinits, hydrocephalus, intracranial calcifications, learning disabilities, vision abnormalities

127
Q

“Other” primarily refers to:

A

congenital syphilis

128
Q

Syphilis is caused by:

A

treponema pallidum

129
Q

Presentation of congenital syphillis:

A

nasal discharge, hepatomegaly, rashes on soles of feet and palms of hands, lymphadenopathy, CNS involvement

130
Q

Presentation of congenital syphilis after 2 years of age:

A

frontal bossing, saddle nose, short maxilla, protuberant mandible, ocular and vision abnormalities, Hutchinson’s teeth, fissures around mouth, neurological and skeletal abnormalities

131
Q

Is Rubella common in the US?

A

NO

132
Q

Presentation of rubella

A

purpura and petechia, hearing impairment, congenital heart defects, cataracts

133
Q

Symptoms of cytomegalovirus are similar to what illness?

A

Mono

134
Q

Symptoms of CMV:

A

fever, rhinitis, pharyngitis, myalgias headache, fatigue

135
Q

Morality rate of infants with congenital infection is?

A

5%

136
Q

Cytomegalovirus presentation:

A

hearing loss, vision impairment due to chorioretinitis, microcephaly, seizures, jaudnice, petechia and purpura

137
Q

Maternal herpes simplex symptoms:

A

genital ulcers with fever, lymphadenopathy, fever

138
Q

Intrauterine disease dissemination of herpes simplex is rare but can result in:

A

infarcts of placenta, inflammation of umbilical cord, fetal demise, ocular damage

139
Q

Herpex simplex results in this common category of symptoms:

A

Skin, Eye, Mouth Manifestations (SEM)

140
Q

SEM manifestations in herpes simplex:

A

vesicles on erythematous base, ocular infections, cataracts, chorioretiniits, ulcerations of mouth, hepatitis unable to regulate temp, Disseminated Intravascular Coagulation

141
Q

Amyloid plaques

A

abnormal deposits of a protein called beta amyloid that is found in the sapce between neurons

142
Q

Neurofibrillary tangles

A

formed by clumps of tau protein

143
Q

Important manifestations in Alzheimer’s Disease:

A

anomia (can’t name things), circumlocution, apraxia (inability to perform a learned task)

144
Q

Early onset of Alzheimer’s is at what age?

A

30-60 yo

145
Q

% of alzheimer’s cases are related to early onset genes?

A

1-5%

146
Q

Early onset Alzheimer’s follows what inheritance pattern?

A

Autosomal dominant

147
Q

What three genes are involved in Early Onset Alzheim’ers?

A

Amyloid precursor protein (APP gene), Presenilin 1 (PSN1), Presenilin 2 (PSN2)

148
Q

Amyloid precursor protein (APP gene):

A

maybe involved in synaptic transmission

149
Q

Presenilin 1 (PSN1):

A

overproduction of a longer and more toxic beta amyloid peptide and plaque formation

150
Q

Presenilin 2 (PSN2)

A

rarest, increases apoptosis in neurogeneration

151
Q

Late Onset Alzehimer’s begins after?

A

age 65

152
Q

Genes involved in late onset AD

A

APOE epsilon 2, APOE epsilon 3, APOE epsilon 4

153
Q

APOE Epsilon 2

A

least common, reduces risk

154
Q

APOE Epsilon 3

A

Most common, neutral role

155
Q

APOE Epsilon 4

A

increases risk for AD, earlier onset

156
Q

Is testing recommended for late-onset AD?

A

No

157
Q

Is testing recommended for early onset AD?

A

If desired

158
Q

For HD, onset before age X is considered juvenile HD?

A

20 yo

159
Q

HD follows which inheritance pattern?

A

Autosomal dominant

160
Q

HD gene codes for a protein called?

A

Huntingtin

161
Q

Mutated form of HD gene consists of an expanded X trinucldeotide repeat?

A

CAG

162
Q

CAG codes for?

A

Glutamine

163
Q

Inhertiance of HD allele from father results in?

A

3 year earlier onset of disease

164
Q

Describe the CAG repeats in a negative, uninformative, or positive result for HD:

A

<35: negative
36-39: uninformative
>40: positive

165
Q

Is Neurofibromatosis 1 or 2 more common?

A

NF1

166
Q

Neurofibromatosis 1 inheritance pattern?

A

Autosomal dominant

167
Q

Normal NF1 gene produces a protein called:

A

neurofibromin, NF1 is a tumor suppressor gene

168
Q

Penetrance of NF1?

A

Complete penetrance but highly variable in presentation

169
Q

Clinical manifestation of NF1?

A

cafe-au-lait macules (6+), freckling, Lisch nodules, neurofibromas, pseudoarthrosis of long bones, cognitive defects

170
Q

Three types of neurofibromas:

A

cutaenous, plexiform, nodular

171
Q

Neurofibromatosis 2 results in the development of:

A

noncancerous tumors on the auditory and vestibular nerves of the body

172
Q

Tumors in NF2 are known as:

A

schwannomas

173
Q

Does NF1 or NF2 have more cutaenous manifestations?

A

NF1

174
Q

NF2 follows what inheritance patter?

A

Autosomal dominant

175
Q

NF2 involves what protein?

A

Merlin aka schwannomin

176
Q

Polycystic kidney disease follows which inheritance pattern?

A

Autosomal dominant (APPKD), rarely autosomal recessive (ARPKD)

177
Q

PKD results in mutations of

A

PKD1 or PKD2

178
Q

PKD1 encodes for

A

polycystin-1

179
Q

PKD2 encodes for

A

polycystin-2

180
Q

is PKD1 or PKD2 associated with more severe symptoms?

A

PKD1

181
Q

What is the most dangerous complication of PKD?

A

intracranial aneurism

182
Q

Hemochromatosis follows which inheritance pattern?

A

autosomal recessive disorder with variable penetrance

183
Q

Hemochromatosis caused by a mutation in which gene?

A

HFE gene

184
Q

Two most common point mutations in hemochromatosis exist at sites:

A

C282Y and H63D

185
Q

Who is impacted more in HHC, men or women?

A

Men

186
Q

Hemophilia is caused by mutation in which genes on the X chromosome?

A

F8 or F9 genes

187
Q

Hemophilia A and B follow which pattern of inheritance?

A

X-linked recessive

188
Q

Hemophilia A is a disorder of which gene?

A

F8

189
Q

Is hemophilia A or B more common?

A

A

190
Q

Hemophilia B is a disorder of?

A

F9

191
Q

Hemophilia B is also called?

A

Christmas disease

192
Q

What are the three explanations for Female Symptomatic Hemophilia?

A

-X chromosome inactivation, mating between an affected male and carrier female, an abnormal karyotype resulting in loss of all or part of an X chromosome

193
Q

How does genetic testing for hemophilia work?

A

Specific coagulation factor assays

194
Q

Hemophilia C deficient in:

A

Factor XI

195
Q

Hemophilia C follows which inheritance pattern:

A

Autosomal recessive pattern

196
Q

Von Willebrand factor performs several functions:

A
  • involved in platelet adhesion to the subendothelium
  • receptors in platelets bind to VWF
  • acts as a carrier for factor VIII in circulation
197
Q

What is the most commonly inherited bleeding disorder?

A

Von Willebrand Disease

198
Q

What is the most common type of VW disease?

A

Type 1

199
Q

Type 1 VW disease:

A

Low VWF levels, mild symptoms, probably AD

200
Q

Type 2 VW diease:

A

Normal VWF levels but VWF doesn’t work correctly, moderate symptoms, AD or AR

201
Q

Type 3 VW disease:

A

Little or no VWF, rare, severe symptoms, AR

202
Q

Normal hemoglobin in adults is comprised of:

A

two alpha polypeptide chains and two beta polypeptide chains

203
Q

Sickle cell anemia occurs due to

A

a single substitution at the 6th codon of the beta hemoglobin chain which casues the amino acid glutamic acid to be replaced with valine

204
Q

Sickle cell anemia follows what inheritance pattern?

A

autosomal recessive

205
Q

Sickle cell trait means?

A

heterozygote/carrier

206
Q

Having the sickle cell triat provides protection against

A

cerebral malaria, often before age 16 months

207
Q

Protective effect from malaria occurs because:

A

sickled hemoglobin is a strong inducer of heme-oxygenase 1 which produces carbon dioxide which produces host from cerebral malaria

208
Q

A common presentation of sickle cell anemia patients in the ER is?

A

Acute chest syndrome (chest pain, dyspnea, fever)

209
Q

Monogenic mutations leading to high cholesterol have been identified on the?

A

LDLR gene

210
Q

Familial hypercholesterolemia follows?

A

AD or AR depending on mutation

211
Q

LDLR gene encodes for:

A

low-density lipoprotein receptor

212
Q

What does the low-density lipoprotein receptor do?

A

sits on outside of cell, where it binds to LDL from the circulation and transport it into the cell, where the cholsesterol is used by the cell, stored, or removed from the body

213
Q

Homozygous form of FH results in LDL being ?x normal

A

8x

214
Q

Heterozygous form of FH results in LDL being ?x normal

A

2-3x

215
Q

firm-to-hard subcutaenous nodule with normal overlying skin, found in the tendons

A

tendon xanthomas

216
Q

sharply demarcated yellowish collection of cholesterol underneath the skin, usually on or around the eyelids

A

Xanthelasma

217
Q

FH has high risk of:

A

Coronary Heart Disease

218
Q

Common manifestation of FH:

A

Tendon xanthomas, xanthelasma

219
Q

Who should be screened for FH?

A

family member presents with FH, plasma cholesterol level in adult greater than 310 or child 230, premature cHD or sudden cardiac death, tendon xanthomas

220
Q

What is one of the most common disorders of CT?

A

Marfan Syndrome

221
Q

How is Marfan Syndrome inherited?

A

Autosomal dominant or de novo mutation in fibrillin-1 gene (FBN1)

222
Q

Fibrillin-1 encodes for:

A

glycoprotein fibrillin which is a principal component of microfibril which is part of the structure of collagen

223
Q

What is the most concerning issue with Marfan Syndrome?

A

Aortic dilation

224
Q

What is the main cause of morbidity and mortality in Marfan Syndrome?

A

Aortic root disease

225
Q

What is the name for arm span > body height?

A

dolichosternomelia

226
Q

Funnel chest:

A

pectus carinatum

227
Q

Pigeon chest:

A

pectus excavatum

228
Q

too many toes sign

A

Hindfoot valgus

229
Q

Flat foot

A

Pes planus

230
Q

Dislocated lens

A

Ectopia lentis

231
Q

What criteria is used to determine Marfans?

A

Ghent criteria + family history

232
Q

A thoracic aortic aneurysm is defined as having:

A

> 50% increase in the expected diameter of that portion of the aorta

233
Q

What disease is associated with aortic aneurysms?

A

atherosclerosis

234
Q

During a dissection, where does a tear form?

A

Intima and then progresses to media

235
Q

What is the mortality rate of an aortic dissection?

A

1-2% per hour

236
Q

Two types of aortic dissection?

A

Type A, B

237
Q

Type A aortic dissection begins?

A

ascending aorta

238
Q

Type B aorta dissection begins?

A

descending aorta

239
Q

The four P’s of aortic dissection:

A

pallor, pulselessness, paresthesia, paralysis

240
Q

Familial Thoracic Aortic Aneurysms inheritance pattern:

A

autosomal dominant

241
Q

Order the following based on age of presentation (oldest to youngest):

A

sporadic TAA, Familial TAA, Marfans

242
Q

In familial TAA, which part of the aorta is involved 80% of the time?

A

Ascending

243
Q

Four types of cardiomyopathies:

A

dilated, hypertrophic, restrictive, arrhythmogenic

244
Q

Dilated cardiomyopathy

A

dilation of at least one ventricle which results in impaired contraction of one or both ventricles

245
Q

Hypertrophic cardiomyopathy

A

myocardium becomes thickened, especially in left ventricle

246
Q

Restrictive cardiomyopathy

A

stiffening and rigidity of the ventricles due to replacement of normal myocardium by scar tissue, no hypertrophy of ventricle

247
Q

Arrhythomogenic cardiomyopathy

A

right ventricular myocardium replaced with scar tissue

248
Q

What’s the leading cause of sudden cardiac death in athletes?

A

hereditary cardiomyopathies

249
Q

Two most common hereditary cardiomyopathies:

A

Hypertrophic cardiomyopathy (HCM) and Arrhythmogenic cardiomyopathy/arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)

250
Q

Hypertrophic cardiomyopathy (HCM):

A

disorder of the left ventricle

251
Q

Arrhythmogenic cardiomyopathy/arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)

A

disorder of the right ventricle

252
Q

What causes unexplained left ventricular hypertrophy (LVH)?

A

genetic mutations in one of several sarcomere genes

253
Q

Mutations related to HCM:

A

mutations involve coding for thick or thin filaments of the sarcomere

254
Q

HCM inheritance pattern:

A

AD

255
Q

Manifestations of HCM:

A

left ventricular hypertrophy, impaired left ventricular contractility, dyspnea on exertion, palpitations, chest pain, syncope

256
Q

ARVD/C manifestations

A

right ventricular abnormality, arrhythmias, palpitations, chest pain, syncope

257
Q

ARVD/C is characterized by

A

fibrofatty replacement of right ventricle myocardium and myocardial thinning, RV dilation

258
Q

ARVD/C inhertiance pattern

A

AD, very rarely AR

259
Q

Pathogenesis of ARVD/C is related to:

A

desmosome dysfunction, myocyte detachment and cell death, inflammation, fibrofatty replacement of damaged mycoytes

260
Q

Lifetime risk for breast cancer:

A

10-13%

261
Q

What % of breast and ovarian cancer is attributed to genetics?

A

5-10%

262
Q

BRCA1 and BRCA2 related cancers inheritance pattern:

A

AD with high penetrance

263
Q

BRCA1 and BRCA2 are what type of genes?

A

Tumor suppressor genes

264
Q

Which BRCA is associated with a higher lifetime risk of development of cancer?

A

BRCA1

265
Q

Cumulative risk of breast cancer by age 70: BRCA1 and 2

A

BRCA1: 57%, BRCA2: 49%

266
Q

o First childbirth at later ages associated with increased breast cancer risk in

A

BRCA2 carriers

267
Q

Oral contraceptive use:

A

decreased rates of ovarian cancer in BRCA1/2 carriers, but possible could increase breast cancer rates

268
Q

Risk of male breast cancer with BRCA2

A

6%

269
Q

o Lifetime risk of ovarian cancer by age 70 for BRCA1/2

A

BRCA1: 40%
BRCA2: 18%

270
Q

Management of patients with hereditary breast and ovarian cancer syndrome:

A

o Clinical breast exam 2-4x annually starting at age 25
o Annual mammogram beginning ages 25-35 with consistent location and prior films
o Annual breast MRI
o Elective bilateral mastectomy: 90-95% risk reduction
o Annual or semiannual transvaginal US
o Annual CA-125 level (cancer antigen, non-specific, lots of benign conditions)
o Prophylactic bilateral salpingo-oophorectomy ages 35-40

271
Q

One of the first signs of colorectal cancer in your patient may be:

A

anemia

272
Q

Two hereditary colorectal cancer syndromes:

A

Familial Adenomatous Polyposis (FAP), Heredtiary nonpolyposis colorectal cancer (HNPCC)

273
Q

Risk of developing colon cancer for FAP

A

100%

274
Q

Age of onset of colon cancer in FAP

A

39

275
Q

Inhertience for FAP

A

Most common: AD caused by mutations in APC gene, less common: AR caused by mutations in MYH gene

276
Q

APC protein is associated with:

A

regulate cell division, cell adhesion, apoptosis, acts as a tumor suppressor, and ensures correct number of chromosomes are present in a cell before it divides

277
Q

MYH gene encodes for:

A

MYH glycolase, which specifically corrects error when guanine pairs with adenine instead of cytosine

278
Q

Attenuated Familial Adenomatous Polyposis: key characteristic

A

fewer polyps, lower lifetime risk of cancer

279
Q

Where are the adenomas located in AFAP?

A

right colon

280
Q

Mutations are located where for FAP?

A

middle of APC gene

281
Q

Mutations are located where for AFAP?

A

ends of APC gene

282
Q

An extracolonic manifestation of FAP?

A

Gardner Syndrome

283
Q

Gardner Syndrome

A

cancer in multiple places

284
Q

Hereditary Nonpolyposis colorectal cancer aka

A

Lynch Syndrome

285
Q

Characteristics of HNPCC:

A

fewer polyps, polyps are flatter, larger, and undergo rapid transformation to cancer

286
Q

HNPCC colon cancer occurs where?

A

right side of colon

287
Q

In HNPCC could progress from normal colonoscopy to cancer in?

A

2-3 years

288
Q

Most common site of extracolonic cancer in HNPCC?

A

uterus (endometrium)

289
Q

Lynch Syndrome inheritance?

A

Autosomal dominant, defect in a mismatch repair gene

290
Q

Genes implicated in Lynch Syndrome?

A

MLH1, MSH2, MSH6, PMS2

291
Q

Which specific defect results in higher endometrial risk and less CRC risk within lynch syndrome?

A

MSH6

292
Q

Lynch Syndrome protocols:

A

tumor testing, affected relatives should have colonoscopy every 1-2 years beginning at age 25 or at age 5 years prior to diagnosis of youngest family member, upper endoscopy performed every 2-3 years, screening for endometrial cancer and ovarian cancer with pelvic exam, CA125, transvaginal ultrasound (TVUS), endometrial biopsy at age 25-35, prophylactic TAH (total abdominal hysterectomy)

293
Q

Inheritance pattern of Peutz-Jehgers Syndrome?

A

AD

294
Q

Characteristic of Peutz-Jehgers Syndrome:

A

melanocytic macules on lips, perioral, and buccal regions. Increased GI polyps, risk of various cancers.

295
Q

Chronic myelogenous leukemia is characterized by:

A

abnormally increased number of granulocytes -> uncontrolled proliferation that starves out space needed in bone marrow for other cell lines

296
Q

Symptoms of chronic myelogenous leukemia

A

elevated WBC count, fatigue, night sweats, fever, splenomegaly, weight loss, bleeding episodes

297
Q

What chromosome impacted in chronic myelogenous leukemia?

A

Philadelphia chromosome (changed chromsome 22, part of 9)

298
Q

The philadelphia chromosome results in:

A

increased tyrosine activity which are involved in signal transduction

299
Q

Inheritance pattern of CML?

A

Not inherited!

300
Q

Inheritance pattern of familial aytpical multiple mole syndrome (FAMM)?

A

Ad, impacts oncogenes and tumor suppressor genes

301
Q

Genes involved in FAMM?

A

CDKN2A, MC1R

302
Q

CDKN2A

A

encodes proteins P16 and P14ARF, responsible for decelerating cell’s progression from G1 phase to S phase

303
Q

MC1R

A

regulate skin and hair color by controlling production of melanin/pigmentation, pheomelanin produces light skin, hair, and freckled individuals. mutations may increase penetrace of CDKN2A

Clinical Science (7 decks)

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