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Biochem > PSIO (469) FINAL > Flashcards

PSIO (469) FINAL Flashcards

1
Q

what is Mosaicism?

A

Single zygote- individual has presence of two or more genetically different cell lines but developed from a single zygote.

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2
Q

what is chimerism?

A

Different zygotes- individual has presence of two or more genetically distinct cell populations derived from different zygotes.

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3
Q

what is it called when two or more embryos fuse together during early development, leading to a single individual with cells from each original embryo?

A

chimeric organism

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4
Q

what is the result of errors during meiotic or mitotic cell division?

A

Mosaicism organismw

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5
Q

what is the difference between Meiotic non-disjunction and Mitotic non-disjunction?

A

Meiotic non-disj = homologous chromosomes or sister chromatids remain together, result is one extra copy of 1 chromosome in egg.
Mitotic non-disj = sister chromatids remain together, result is 1 extra copy of 1 chromosome (trisomy) in daughter cell.

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6
Q

what is anaphase lag or trisomy rescue?

A

It corrects trisomy but results in mosaicism

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7
Q

what percent of embryos develop into mosaicism organisms?

A

15-90% at two-to-eight cell stage, 16-33% at blastocyst stage

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8
Q

what two tests can be done to check for mosaicism in pregnancy?

A

chorionic villus sampling (CVS) done ~10-12 weeks.
Amniocentesis done ~16-18 weeks.

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9
Q

what is the difference between Euploid and Aneuploid?

A

Euploid is the normal cell with the normal set of chromosomes, while Aneuploid is a cell with abnormal number of chromosomes.

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10
Q

why does mosaicism pose a concern for preimplantation genetic testing (PGT)?

A

biopsy may not capture cells with abnormal genetic makeup leading to false-neg results. If PGT doesn’t accurately detect mosaicism there is a risk of transferring embyros with chromosomal abnormalities to the uterus.

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11
Q

what is the difference between WGS and WES?

A

WGS is whole genome sequencing which sequences the entire genome of an individual. WES is whole exon sequencing which sequences only the protein-coding regions of the genome (exons)

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12
Q

what are some arguments in favor of PGT?

A

decreased termination due to aneuploidy, increased preg rates, reduced miscarriage rates.

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13
Q

what is congenital defect?

A

any physical anomaly which is recognizable at birth

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14
Q

what are examples of single gene defect?

A

Achondroplasia, cystic fibrosis, hemophilia.

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15
Q

what is chromosomal defect?

A

too many or too little chromosomes (aneuploidy)

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16
Q

what is it called when environmental substances cause birth defects?

A

Teratogen

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17
Q

how much folic acid is recommended for pregnancy?

A

400mcg or 40mg

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18
Q

why does folic acid play a big role?

A

it plays a role in the formation of neural tube, which develops into the baby’s brain and spial cord during early weeks of pregnancy.

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19
Q

during what days of pregnancy does the neural tube form?

A

between days 15-18 counting from fertilization

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20
Q

what are two neural tube defects?

A

Anencephaly and Spina Bifida

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21
Q

what is it called when the upper neural tube does not close all the way. Baby is born without parts of brain and skull?

A

Anencephaly

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22
Q

What is it called where anywhere along spine where lower part of neural tube does not close all the way and causes physical and mental disabilities that range from mild to severe?

A

Spina Bifida

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23
Q

what does NIPT stand for and what is it?

A

NIPT = Non-Invasive Prenatal Testing. It is done as early as 7 weeks, and it analyzes cell free DNA circulating in the mother’s bloodstream. It can screen for certain genetic conditions caused by extra or missing pieces of DNA.

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24
Q

what is the test called where it can analyze the small amount of fetal DNA present in mother’s blood?

A

Cell Free Fetal DNA

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25
what are two ways of performing CVS?
chorionic villus sampling can be done by transcervical or transabdominal but the fetus position determines which should be done.
26
once a sample is taken during amniocentesis what is the indicator of neural tube defect?
Alpha-Fetoprotein
27
what is the term for when babies cannot process phenylalanine?
Phenylketonuria (PKU)
28
what are possible explanations for rise in GDM?
more females are being screened during pregnancy, and there has been changes in diagnostic criteria since 1990s.
29
what is normal blood glucose when fasting?
70-99 mg/100 mL (3.9 to 5.5 mmol/L)
30
what value is considered hypoglycemia and hyperglycemia?
below 2.5-2.7 mmol/L is hypoglycemia. Above 14mmol/L is hyperglycemia
31
what is the role of insulin?
decrease blood glucose- promote cellular uptake of glucose from the blood, promotes energy storage and utilization for energy production.
32
Pancreatic B cells in ____ of ____sense blood glucose levels.
Islets, Langerhands
33
Explain the process of which insulin is released from B- cells:
first you eat which causes a rise in blood glucose levels. This causes insulin secretion by pancreatic beta cells. First glucose follows its concentration gradient and enters the pancreatic beta cells via GLUT 2 transporter. Phosphorylation of glucose causes a rise in the ATP:ADP ratio, this ratio inactivates K channels which depolarize the membrane causing the Ca channels to open and allow calcium ions to inside the cell. Rise in calcium inside the cells leads to exocytosis of insulin from granueles.
34
during what week of pregnancy is oral glucose tolerance test conducted to diagnose GDM?
24-28 weeks of pregnancy (end of 2nd trimester)
35
One of the effects of AMPK activation is the stimulation of ___ translocation to cell membrane in muscle cells.
GLUT-4
36
in females with GDM, inadequate insulin secretion can lead to hyperglycemia due to 4 reasons:
1. increased insulin resistance 2. reduced beta cell function 3. inadequate compensation for increased insulin 4. dysregulation of glucose homeostasis.
37
faster glucose uptake = ____ insulin resistance
less
38
Fetal hyperinsulinemia can lead to three problems:
-macrosomia (abnormally large body) -adiposity - visceromegaly (enlarged internal organ)
39
what is the prevalence percentage of pcos?
5-10% of the population have pcos
40
to be diagnosed with pcos, one must meet 2/3 of the following:
-Hyperandrogenism -Chronic anovulation -Polycystic ovaries (12-20 follicles each)
41
PCOS patients have ____ GnRH activity so LH ___ which causes more androgen production.
Increased/Rapid, increases
42
what are the three consequences of excess androgens?
hirsutism, acne, androgenic alopecia (male pattern baldness)
43
How does pcos lead to infertility?
abnormal secretion of gonadotropins (LH>FSH) causes arrest of follicular development and anovulation. androgen>estrogen decreases quality of developing oocyte in follicles. Low FSH is not sufficient to stimulate follicle development.
44
were does AMH come from?
It is produced by granulosa cells in ovarian follicles.
45
Since pcos females have increased number of small, immature ovarian follicles, the follicles will produce a larger amount of ____
AMH
46
where is the principle site of glucose disposal (uptake)?
Skeletal muscle and adipose tissue
47
Hyperinsulinemia stimulates ____ androgens.
Excess
48
how is the hyperinsulinemic euglycemic clamp used?
Involves fusing insulin into the bloodstream at a constant rate to achieve high insulin levels (hyperinsulinemia) while simultaneously adjusting the glucose infusion rate to maintain stable blood glucose.
49
why is insulin-dependent GLUT-4 mediated glucose uptake lower in pcos patients?
due to insulin resistance
50
PCOS Patients exhibit lower insulin-dependent glucose uptake mediated by GLUT__.
4
51
when liver SHBG is inhibited, what is increased in the body?
circulating free androgens
52
which type of cells in pcos patients remain responsive or become hypersensitive to insulin?
theca cells
53
for the treatment of hirsutism and acne, oral contraceptives containing both estrogen and progestin help with:
-suppress LH/FSH -suppress ovarian androgen production -increase liver SHBG
54
for the treatment of anovulation, oral contraceptives prevent:
endometrial hyperplasia
55
what is the drug that is estrogen antagonist and increases FSH for ovulation?
clomiphene citrate
56
what are the benefits of metformin?
interferes with simple carb absorption in GI tract, inhibit liver glucose output, increases peripheral glucose uptake
57
what are the 4 curable STDs?
gonorrhea, syphilis, chlamydia, trichomoniasis
58
which curable STD is parasitic?
Trichomoniasis
59
which 4 STDs are incurable?
HIV, HPV, HSV, HBV
60
what are examples of illnesses caused by mother to child STI transmission?
stillbirth, sepsis, congenital defromities, prematurity
61
what are some symptoms of chlamydia in females?
unusual vaginal discharge, burning while urinating, low fever, lower abdominal pain
62
what are some symptoms of chlamydia in men?
usually asymptomatic in 25% of males diagnosed but may experience discharge from penis, burning while urinating, pain and swelling of testicles
63
What is Rate per 100,000?
Reported cases of a disease per 100,000 people in the population
64
which STIs can be detected by blood test?
syphilis, HIV, HBV,
65
what type of testing is used for chlamydia?
Nucleic acid amplification test (NAAT)
66
what are the six nationally reportable STDs?
1. Chlamydia 2. Gonorrhea 3. Syphilis 4.HIV 5.Hep B 6.Chancroid
67
Antibiotics can be used for which STIs?
Gonorrhea, syphilis, trichomoniasis, chlamydia
68
Antivirals can be used to modulate the course of which disease?
HIV, Herpes, Hep B
69
what are 6 methods of prevention for STDs?
1.Absinence 2.Condoms 3. Sexual Education 4. minimize risky behavior 5. vaccines 6.Male circumcision
70
what is done during circumcision?
the foreskin that covers the head of the un-erect penis is removed.
71
which features of penis have mucosal epithelium?
inner lining of the foreskin, frenulum, urethral meatusw
72
which penile feature has lower number of langerhans cells?
urethral meatus
73
Describe HPV?
it is a double stranded circular DNA episome, surrounded by 72 pentameric capsids, each capsid is a viral protein. L1 and L2 encode for capsid proteins.
74
Individual capsids will assemble into _____ particles when expressed in microbial organisms.
virus like
75
what is an oncogene?
gene that causes transformation of normal cells into cancerous tumor cells.
76
what are the 4 types of cervical cell types/structure?
1.squamous 2. dysplasia (alteration in size) 3.carcinoma in situ 4.Malignant neoplasm (infiltrate surrounding tissue)
77
Moderate dysplasia is also reffered to as:
Cervical intraepithelial neoplasia
78
when is HPV vaccine recommended?
ages 9-26 for both genders. for women recommended before the onset of sexual activity, immunosuppressed women. In men it helps prevent genital warts due to types 6,11. Men are less diagnosed but more involved in transmission.
79
define puberty?
transition period from sexually immature child to sexually mature, reproductive fertile adult.
80
what is the onset of puberty called?
tanner stage 2
81
what is the first menstruation called?
menarche
82
what is the onset of breast development called?
Thelarche
83
what is the first appearance of pubic hair called?
pubarche
84
more body fat =
more leptin produced = leptin activates kiss neuron, activates GnRH neuron to increase reproductive function.
85
mTOR is mammalian target of ___
Rapamycin
86
when cell energy is low, excess ____ stimulates ____
AMP, AMPK
87
what are benefits of estrogen and in what body organs?
Brain- memory, stable body temp breast- produce milk liver/heart- regulate cholesterol, prevent atherosclerosis and heart attack uterus- nourish fetus bone-maintain density
88
what are neg consequences of estrogen?
promotes breast cancer, promotes cancer of the uterine lining.
89
what are symptoms of menopause associated with estrogen deficiency?
hot flashes, vaginal atrophy, sleep disturbances
90
in the womens health initiative study, those who took combination of estrogen and progesterone had increased risk of ?
stroke, venous thromboembolic events, invasive breast cancer.
91
in the womens health initiative study, those who took combination of estrogen and progesterone had decreased risk of?
colorectal cancer and hip fractures.
92
____ estrogens are thought to be protective against coronary artery athersclerosis.
endogenous
93
exogenous estrogens are thought to be harmful when administered ____ menopausal transition.
after
94
what are effects of exogenous estrogen on complicated plague?
-increases inflammatory response which promotes growth of atherosclerotic plaque -increases MMP expression which destabilizes and promotes rupture of atherosclerotic plaque.
95
what were the 8 factors looked at for global index hazard ration?
1.cardiovascular risk 2.stroke 3.endometrial cancer 4.hip fracture 5.colorectal cancer 6.pulmonary embolism 7. breast cancer 8.death

Biochem (15 decks)

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