EHSHRE Exam sample 2 Flashcards

1
Q

Microarray technique principle?

A

The principle behind microarrays is that ⇔ complementary sequences will bind to each other.

The unknown DNA molecules are cut into ► fragments by restriction endonucleases;►then labelled with flourochromes.
►known DNA is also labelled with flourochromes (Control)
►both labelled DNA allowed hybridized to bacerial artificial DNA (Refrence) on a slid ship.
►computer software used to analyse all chromosomes.

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2
Q

Hypophysectomy

A

A hypophysectomy is a surgery done to remove the pituitary gland.

The pituitary gland, also called the hypophysis.

Hypophysectomy

Before sexual maturity(table below)

After sexual maturity

  • Undeveloped reproductive tracts
  • Nonfunctional reproductive system
  • Hypogonadism
  • Loss of function
  • Atrophy of gonads and accessories reproductive structural
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3
Q

A young women asked you. My pituitary gland was removed, so now I replace a lot of hormones. I didn’t have a period for awhile, but once I changed my doses of estrogen and progesterone, now I have one like clockwork every month. I’m still in my 30s. Is it possible for me to become pregnant?

A

The pituitary hormones FSH and LH direct the ovaries to grow eggs each cycle and promote production of estrogen and progesterone.

They are most likely deficient in this patient, as she is taking estrogen and progesterone.

These hormones can be given as injections as a substitution therapy to induce egg growth and hormone production. and then IVF is recommended.

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4
Q

Hyperprolactinemia

A

Hyperprolactinemia means higher-than-normal levels of prolactin in blood.

The most common cause is a prolactinoma, a benign (noncancerous) tumor pituitary gland.

Hyperprolactinemia has been linked to a state of male hypogonadism and a reduction in semen quality,and affect levels of testosterone.

in females, prolactin is responsible for milk production and can disrupt ovulation. An abundance of prolactin can lower estrogen production, causing infertility directly.

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5
Q

what’s the effects of UV on DNA

A

UV prevent chromosomal condensation before meiosis thus causing direct harm to cell division

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6
Q

Explain roles of:

  • Amino acids in IVF culture media
  • Pyruvate
  • Glucose
A
  • Amino acids are important regulators of embryo development.
  • aa helps the embryo to maintain its redox potential and prevent damage from peroxidative reactions.
  • Under in-vitro conditions, oocytes and embryos generate ATP by aerobic oxidative metabolism of pyruvate (important prior to genomic activation)
  • pyruvate remove toxic ammonium ions via transamination to alanine.

  • After genome activation (after d3), glucose becomes a key metabolite, required for lipid, amino acid and nucleic acid synthesis.
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7
Q

Wester Blot used for………….?

A

Western Blot is a laboratory method used to detect specific protein molecules from among a mixture of proteins.

This mixture can include all of the proteins associated with a particular tissue or cell type.

  • An important technique used in cell and molecular biology.
  • The technique uses three elements to accomplish this task:
  1. separation by size.
  2. transfer to a solid support.
  3. marking target protein using a proper primary and secondary antibody to visualize.
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8
Q

Duchenne muscular dystrophy (DMD)

A

Duchenne muscular dystrophy is inherited in an X-linked recessive pattern.

Males have only one copy of the X chromosome from their mother and one copy of the Y chromosome from their father.

carrier mother will transmit her X chromosome( has a DMD gene mutation, will have Duchenne muscular dystrophy) for half of sons

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9
Q

Examples of autosomal dominant diseases diagnosed by PGD​

A

Examples of autosomal dominant diseases diagnosed by PGD

  • Marfan’s syndrome
  • Familial adenomatous
  • polyposis coli
  • Huntington’s disease
  • Myotonic dystrophy
  • Osteogenesis imperfecta
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10
Q

Examples of autosomal recessive diseases diagnosed by PGD

A

Examples of autosomal recessive diseases diagnosed by PGD

  • Cystic fibrosis (various mutations)
  • Sickle cell anemia
  • Tay–Sachs disease
  • Spinal muscular atrophy
  • β-Thalassemia
  • Adrenogenital syndrome
  • Hypophosphatemia
  • AHBS STC ☺
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11
Q

Examples of X-linked diseases diagnosed by PGD

A

Examples of X-linked diseases diagnosed by PGD

(a) Sexing

  • Duchenne muscular dystrophy
  • Becker muscular dystrophy
  • Chronic granulomatosis
  • Hunter’s syndrome
  • Hemophilia
  • Adrenoleukodystrophy
  • Barth syndrome
  • X-linked hydrocephalus
  • X-linked ataxia
  • X-linked incontinentia pigmentosa
  • X-linked mental retardation
  • X-linked Wiscott–Aldrich
  • X-linked spastic paraplegia
  • Laber’s optic atrophy
  • Sensory motor neuron disease
  • Retinitis pigmentosa
  • Bruton’s disease
  • Menkes disease

(b) Specific diagnoses

  • Duchenne muscular dystrophy
  • Hemophilia
  • Lesch–Nyhan syndrome
  • Charcot–Marie–Tooth disease
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12
Q

Biopsied blastomeres are in :

a) Prophase
b) Telophase
c) Anaphase
d) Interphase

A

d) ؟

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13
Q

Glucose in oviduct

A

0.5 to 3.1 mM

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14
Q

% of infertility in USA

A

WOMEN 15-49 YO

(19%)

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15
Q

Colchicine results in doubling of chromosome number due to……………..

A

colchicine prevents the microtubule formation during cell division, thus the chromosomes do not pull apart like they normally do.

A spindle poison is a poison that interrupts the cell division by affecting the spindles.

There are several spindle poisons such as mebendazole, colchicine, vinca alkaloids, taxol. Colchicine is an alkaloid which inhibits the microtuble polymerization, organisation and orientation of spindle fibres which is essential to mitosis.

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16
Q

Oxytocin released in response to cervical or uterine stimuli?

A

cervical

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17
Q

Hysterosalpingography (HSG)

A

Hysterosalpingography (HSG) is an X-ray procedure that is used to view the inside of the uterus and fallopian tubes.

It often is used to see if the fallopian tubes are partly or fully blocked.

It also can show if the inside of the uterus is a normal size and shape.

it may be advised to 2ry infertile women.

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18
Q

hermaphrodite & Androgen

A

Androgen Insensitivity syndrome AIS is caused by a mutation in the androgen receptor (AR) gene resulting in deficient action of androgens and therefore incomplete masculinization

referred to as XY DSD disorder of sexual development (DSD) formerly classified as male pseudo hermaphroditism.

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19
Q

plasminogen activator in implantation

A

Plasminogen activators are serine proteases that catalyze the activation of plasmin via proteolytic cleavage of its zymogen form plasminogen.

many enzymes are required for the trophoblast cells to breach the basement membrane during implantation. Plasminogen activator (PA) is probably involved in these proteinase activities during embryo implantation.

PA converts the inactive plasminogen into serine protease plasmin. This broad-spectrum proteinase can cause degradation of extracellular matrix directly or indirectly by activating latent metalloproteinases.

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20
Q

spinal cord injury and Ejaculation in male?

A

male inability to ejaculate after spinal cord injury

SO

Electroejaculation is another technique that can be used to stimulate ejaculation in men with spinal cord injury.

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21
Q

Meiosis in male spermatogonia starts in………………………while in female oogonia………….

A

spermatogonia don’t start meiosis until puberty

Oogonia starts meiosis 12 weeks of gestation

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22
Q

female primordial follicles become primary oocyte at ………….

A

primordial follicles become primary oocyte at 16-20 week of gestation

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23
Q

oocyte re-enter prophase of meiosis 1 ………..

A

oocyte re-enter prophase of meiosis 1 preovulatory

(11 years girl)

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24
Q

capacitation occurs in female reproductive tracts and involved………

A
  • capacitation involved 2 steps:
  1. removal of epididymal and seminal plasma proteins
  2. phosphorylation of sperm protein which very important for sperm motility

(lateral head displacement)

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25
sperm capacitation in male maybe parallel to...............in oocyte activation
sperm capacitation in male maybe parallel to cytoplasmic maturation in oocyte activation
26
cortical reaction after sperm entry is very important for........
prevent polyspermy fertilization
27
How the sperm trigger the Ca+2 release intracellular?
2 hyposis involved **sperm trigger the Ca**+2 release intracellular; 1. **G.Protein** hyposis (involved in transmitting signals from a variety of stimuli outside a cell to inside............. 2. **soluble sperm factor hyposis** ***​**(The soluble sperm factor that activates the egg: **PLCzeta** initiates Ca2+ oscillations and egg activation at fertilization)*
28
**Centrosome origin and function?**
* **Centrosome** guides the chromosomes through the mitotic division * centrosome is a paternal (sperm) origin * *(except mouse and hamster "maternal origin")*
29
TRUE OR FALSE Spermatozoal **Nucleoli** are destroyed during spermatogenesis.
TRUE ## Footnote the 2pn formation after fertilization containing Nuclear precursor Bodies (NPBs) the oocyte -sperm fusion then called Sygnay.
30
Acrosome reaction
* acrosome origin ► Gologi system in spermatid * final step in sperm activation * occurs only in presence of Ca+2 * Acrosin digests the zona pellucida and membrane of the oocyte
31
Carnegie stages ?
23 embryonic development stages according morphology assessment
32
QC & QA & QMS & TQM ...................
**Quality Control (QC)** Inspection of a system to ensure that a product or service under optimal conditions **Quality Assurance (QA)** Monitoring the effectiveness of QC and indicates preventive and corrective action taken when errors are detected. **Quality Management systems (QMS)** A system assessed by external auditor to ensure documenting all processes, responsibilities, and procedures to meet a certificate issued requirements (ISO 9001:2000) **Total Quality Management (TQM)** describes a management approach to long-term success through customer satisfaction. Monitor all procedures and components 2eof the Lab including pregnancy rates, implantation rates, procedures, protocols, materials, equipment, and staff performances. **Quality Audit** Review and checking of QMS to ensure correct operation. **External Quality Assurance** Test a product against external standards
33
Daily and weekly monitor and recording in the IVF lab?
* **Daily** record: temperature of surfaces, incubators, water bathes, fridge, freezers and stages * Liquid nitrogen Dewars ►weekly check monitor
34
osmolarity of the IVF culture media ....
osmolarity of the IVF culture media 275-305 mosm
35
regarding liquefaction of semen, fibrin ⇒lysis by ...........in ......male gland
fibrin lysis by **prostate fibrinolysin** so if semen fail to liquefy within 60 min, this indicates glandular dysfunction of prostate
36
Noonan syndrome
Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY) FSH , LH high T low testicular atrophy
37
A serious adverse event: a. is any event associated with staffing activities b. is any event associated with clinics activities c. is any event associated with ART treatment
c)
38
A serious adverse event: a. needs to be reported immediately to the RTAC b. needs to be investigated and be available for review at the next audit c. needs to be reported immediately to the certifying body (CB)
b)
39
A serious adverse event: a. needs to be reported immediately to the RTAC b. needs to be investigated and be available for review at the next audit c. needs to be reported immediately to the certifying body (CB)
b)
40
A serious **notifiable** adverse event is an event: a. associated with timed intercourse or unstimulated cycles b. associated with ovulation indication c. associated with fertility investigation prior to treatment d. associated with surgery prior to an ART cycle e. only associated with an ART cycle
b & e
41
A serious notifiable adverse event may include: a. death, a life-threatening condition, a disabling condition or an incapacitating condition b. the transmission of a communicable disease c. an embryo identification error or mix-up d. a gamete identification error or mix-up
all
42
A serious notifiable adverse event: a. needs to be reported immediately to the embryological scientific society (at least national) b. needs to be investigated and be available for review at the next audit c. needs to be reported immediately to the health ministry
c) series notifiable هوبا موضوع كبير يعني
43
During blastocoel expansion, the Na, K-ATPase pump consumes: a. 60% of ATP b. 30% of ATP c. 20% of ATP d. 50% of ATP e. 40% of ATP
a)
44
Fertilization media does not contain EDTA because: a. EDTA is toxic to sperm b. Ca2++ is required for the acrosome reaction c. EDTA may chelate Ca2++ d. Ca2++ is required for capacitation e. EDTA is an anti-oxidant
b & c note: ca2+ not required for capacitation
45
Following compaction:....................
Following compaction: * a. glucose consumption is high * b. ADP levels are high * c. oxygen consumption is high * d. ATP levels are low
46
**Fungal contamination:**
-not appear to be embryo toxic at low levels -may become toxic at higher levels of contamination
47
Hypotaurine is an example of non-enzymic anti-oxidant. a. No b. Yes
b
48
If day 0 is time of ovulation. Human embryos would naturally enter the uterus on: a. Day 4 b. Day 1 c. Day 3 d. Day 5 e. Day 2
a) day 4
49
If media were to be developed to reflect the changing environment of the preimplantation embryo, then which of the following stages should be considered: a. the ampulla-isthmic junction b. the ampulla c. the uterus d. the oviduct e. follicle fluid
a)
50
In general the human embryo is: a. highly fussy b. moderately adaptable c. highly adaptable d. moderately fussy
c)
51
In summary the nutritional requirements of the human embryo is: a. very basic b. relatively simple c. complex d. very complex e. difficult to define
b)
52
Is there evidence that light can induce the formation of hydrogen peroxide in media containing HEPES and riboflavin? a. No b. Yes
b) ## Footnote Riboflavin, Vitamin B2: included in culture media to help the metabolizing of glucose, which is used to produce energy.
53
Most culture media contains **phosphate ions** in the concentration of: a. between 0.25 and 0.35 mEq/L b. between 0.15 and 0.25 mEq/L c. between 0.35 and 0.45 mEq/L d. between 0.25 and 0.45 mEq/L e. between 0.20 and 0.25 mEq/L
a. between 0.25 and 0.35 mEq/L
54
Penicillamine is sometimes used as a replacement for EDTA. a. Yes b. No
a)
55
phenol red appear to be not toxic to sperm, egg and embryo, it is likely: ## Footnote a. yellow at pH 7.0 b. red at pH 7.4 c. maroon at pH 7.8 d. straw color at pH 7.2
all true
56
The back to nature approach in the development of culture media sought to emulate the environment of: a. the follicle b. the isthmus c. the fallopian tube d. the ampulla e. the uterus
c)
57
The cumulus-oocyte complex need only be graded as mature ..... or immature .......
The cumulus-oocyte complex need only be graded as mature (1) or immature (0).
58
The early embryo is sensitive to glucose concentrations. true or false
true
59
The human Na, K-ATPase pump is present in the morula but upregulated during expansion by: a 2.3 fold b. 3.3 fold c. 4.3 fold d. 5.3 fold
b) The human Na, K-ATPase pump is present in the morula but upregulated during expansion by: 3.3 fold **The increase may be due to:** 1. possible recruitment from intracellular stores 2. possible regulation by ion gradients phosphorylation by protein kinases 3. possible regulation by hormones
60
The main consumers of ATP in the embryo are: a. DNA Replication b Na, K-ATPase pump c. cell membrane synthesis d. protein synthesis
b)
61
the main preimplantation metabolic pathway include....
the main preimplantation metabolic pathway include: * pyruvate and lactate, * glucose, * amino acids, * atty acid and b-oxidation
62
The main source of a buildup of ammonia in culture media is due to: a. bicarbonate b. glutamate c. non-essential acids d. glutamate dipeptide e. pyruvate f. glucose
b.
63
The metabolic quotient of a blastocyst is similar to: a. liver tissue b. brain tissue c. heart tissue d. tumor tissue e. muscle tissue
d. ## Footnote blastocyst is similar **tumor tissue** early cleavage metabolic like **brain tissue**
64
The Na, K-ATPase pump exchanges: a. two Na+ out of and one K+ in to a cell b. five Na+ out of and four K+ in to a cell c. four Na+ out of and two K+ in to a cell d. one Na+ out of and one K+ in to a cell e. three Na+ out of and two K+ in to a cell f. thee Na+ out of and one K+ in to a cell
e.
65
The Na+/K+ ATPase is located: a. apical region of the trophectoderm b. mesolateral region of the trophectoderm c. inner cell mass d. basolateral region of the trophectoderm
d, basolateral basal + lateral
66
The nutrient content of the human oviduct and the uterus are: a. diametrically opposite b. very similar c. differ only in the glucose concentration d. differ only in the amino acid profile
a. diametrically opposite العكس تماما
67
The oviduct concentration of amino acids is: a. primarily non-essential amino acids b. a mixture of non-essential and essential amino acids c. primarily essential amino acids
a)
68
The oviduct concentration of lactate is: a. 6.5 mM b. 9.5 mM c. 7.5 mM d. 10.5 mM e. 8.5 mM
d.
69
The oviduct concentration of pyruvate is: a. 0.42 mM b. 0.22 mM c. 0.62 mM d. 0.32 mM e. 0.52 mM
d)
70
A man whose father had hemophilia married a woman whose family had never had hemophilia. Which of the variants describing the likelihood of developing this disease in their children is abnormal. these phenotypes may result EXCEPT?? a. all healthy children. b. carrier daughters, healthy sons. c. half of the sons may be ill. d. daughters of carriers, sons sick.
a) لاحظ **hemophilia** is an X-linked recessive hereditary disease Father's X chromosomes have the mutant gene X*Y mother may be carrier or not ► XX or X*X - ALL daughter will be carrier - half of sons may be affected خد بالك العلاقة بين الاب وبين بناته واضحة * (all affected or all carrier) * وفي الحالتين الذكور لا يمرر لهم الطفرة if father had **dominant** x-linked ► * \*all daughters affected * \*no son affected if father had x-linked **recessive** ► * \*\*all daughters carrier and * \*\*no sons affected.
71
How many blood types exist including the positive and negative factors (AB0)? * a. 8 * b. 6 * c.4 * d. 3
a)
72
If the mother has blood type "A" and is heterozygote, and the child has blood type "0", then the father cannot have the following group: a. AB b. A c. 0 d. B
a)
73
In a certain family, twins were born: a boy and a girl. The children's mother was affected by colorblindness (color blindness) and the father was healthy. What is the probability of developing symptoms of colorblindness in a girl and what is the probability of developing symptoms in a boy? a. 25% / 75% b. 0% / 100% c. 100% / 0% d 50% / 50%
B) colorblindness is X-linked recessive carrier mother transmitted gene to all sons and 50% of daughter will be carrier
74
Regarding Kallmann syndrome (KS) what is incorrect? a. is a genetic disorder that prevents a person from starting or fully completing puberty b. the underlying cause is a failure in the correct production or activity of gonadotropin-releasing hormone by the hypothalamus c. is a form of a group of conditions termed hypogonadotropic hypogonadism + a total lack of sense of smell (anosmia) or a reduced sense of smell d. due to low levels of the sex hormones testosterone in males or estrogen and progesterone in females e. x- linked Dominant disease
a.) is incorrect Kallmann syndrome is caused by ANOS1 gene mutations, the condition has **X-linked recessive** and AutosomaL recessive and dominat pattern of inheritance
75
examples of X-linked diseases include:
**Hemophilia B** **Duchy nemuscle atrophy** **colorblindness syndrome** Lisch epithelial corneal dystrophy, Lujan-Fryns syndrome Megalocornea 1 Mental retardation-skeletal dysplasia Aarskog-Scott syndrome, Allan-Herndon-Dudley syndrome, Fetal hemoglobin quantitative trait locus 3, FG syndrome 5 Mohr-Tranebjaerg syndrome Nephrolithiasis type I, Opitz-Kaveggia syndrome, Spondyloepiphyseal dysplasia tarda, TARP syndrome, Thoracoabdominal syndrome Hypophosphatemic rickets, Jensen syndrome, Keratosis follicularis spinulosa decalvans
76
The carrier of a genetically determined disease is an organism: a. healthy, having two genes dominant to the condition b. healthy, being a heterozygote for a given trait c. sick, homozygous dominant to a given trait d. patient, having two recessive genes for a given disease e. healthy, homozygous recessive to a given trait
b.)
77
The endocrinology in Klinefelter’s syndrome may be expected as:
elevated FSH, elevated LH, decreased testosterone
78
The gene that causes colorblindness lies in the chromosome: a. Y b. X c. X and Y d. autosomal
b)
79
* **CELL to CELL junctions?** * Anchoring cell junctions? * communication cell junctions? * Occluding cell junctions? * Gap junction * dynamic cell junctions?
Cell junctions (or intercellular bridges): Anchoring as a word mean confirm تثبيت tight seal between neighboring cells to restrict the flow of molecules between cells and from one side of the tissue to the other * Occluding mean plugs or seal cells together to prevent leakage from between cells * Gap junction ,,,,communication cell junctions
80
Turner Syndrome is * a) X-LINKED disorder * b) Y-linked * c) autosomal in origin * d) An example of single gene disorder
a)
81
Testicular Failure acquired and congenital causes?
**Testicular Failure** 1. **Congenital** * Klinefelter’s syndrome (XXY) * autosomal abnormalities * torsion (maturation arrest) * cryptorchidism, anorchia * sickle cell disease * myotonic muscular dystrophy * Noonan’s syndrome (male Turner’s). 2. **Acquired** * mumps orchitis * epididymo-orchitis * testicular trauma * inguinal/scrotal surgery * radiotherapy
82
Noonan Syndrome
Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). **autosomal dominant genetic disorder** Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1)
83
A human male carrying allele for a gene on X chromosome is .. a) heterozygous b) homozygous c) hemizygous d) Monozygous
c) **hemizygous** only one member of a chromosome pair or chromosome segment rather than the usual two. Hemizygosity is often used to describe X-linked genes in males who have only one X chromosome
84
which organelle release Ca +2 ions * a) sER * b) rER * c) Golgi * d) Mitochondria
a) (لا تنساني من دعواتك ....عماد صديق)