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Year 2 > Case 7 > Flashcards

Case 7 Flashcards

1
Q

How long does pregnancy normally last?

A

37 - 42 weeks from the first day of your last period

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2
Q

When can abortion usually be carried out?

A

During the first 24 weeks

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3
Q

Examples of what micro cultures are defined by

A

Education, social class, gender identity, disability etc

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4
Q

What is the classification of humans based on genetic characteristics and common nationality?

A

Race

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5
Q

What is any group of people who share experiences, language and values that permit them to communicate knowledge not shared by those outside the culture?

A

Culture

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6
Q

Do most differences occur WITHIN populations?

A

Yes

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7
Q

What are the 9 protected characteristics?

A

age, disability, gender reassignment, marriage and civil partnership, race, religion or belief, sex and sexual orientation

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8
Q

What sort of discrimination is it when someone is treated less favourably on racial grounds?

A

Direct

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9
Q

What sort of discrimination is it when a provision, criterion or practice is applied to all and puts people
of the same race at a particular disadvantage?

A

Indirect

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10
Q

What is meant by genomic imprinting?

A

When only one copy of a gene is active depending on who the gene came from (mother/ father)

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11
Q

What is an imprinted copy of a gene?

A

An inactive copy of a gene

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12
Q

If a gene is siad to be maternally expressed, which copy is imprinted?

A

The paternal copy

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13
Q

How many autosomes do humans have?

A

22 pairs

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14
Q

How many sex chromosomes do humans have?

A

1 pair

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15
Q

What is it called when the organisational structures/ processes/ practises result in ethnic minorities being treated unfairly?

A

Institutional racism

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16
Q

What is it called when people are omitted from mainstream provision on the grounds of their race/ ethnicity?

A

Marginalisation

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17
Q

What is the principle of treating everyone equally disadvantages groups and their different needs & situations are denied/ ignored? What problem can this cause?

A

Colour blindness

Some groups may be excluded from services

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18
Q

What is victim blaming?

A

Blaming the customs of a religion of other groups for their behaviour

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19
Q

Where do 95% of ectopic pregnancies occur?

A

Uterine tubes

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20
Q

What is septicaemia?

A

An infection of the blood

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21
Q

What is sepsis?

A

The body’s response to infection (serious/ overwhelming/ life-threatening)

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22
Q

What sort of inheritance pattern shows male to male transmission and has a 50% offspring risk?

A

Autosomal dominant

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23
Q

What is the recurrence risk of an autosomal recessive condition if one child already has it? What must the parents be?

A

25%

Both asymptomatic carriers

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24
Q

X linked recessive condition:

If mother is a carrier and father unaffected, how will their children be effected?

A

50% of sons affected

50% of daughters carriers

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25
Q

What’s uniparental disomy?

A

2 copies of a chromosome received from a single parent (no copy from the other parent)

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26
Q

Which chromosome has uniparental disomy is angelman and prader-willi syndrome?

A

15 q 11-13

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27
Q

Paternal UPD of chromosome 11 (11p15)

A

Beckwith-wiedermann syndrome

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28
Q

Paternal UPD chromosome 15 (15q11-13)

A

Angelman syndrome

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29
Q

Maternal UPD of chromosome 15 (15q11-13)

A

Prader-willi syndrome

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30
Q

What causes mosaicism?

A

Post-zygotic errors in mitosis

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31
Q

What is the 1st patient investigated in a family study called?

A

Propositus

Proband

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32
Q

What does sensitivity mean?

A

Ability to correctly identify affected

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33
Q

What does specificity mean?

A

Ability to correctly identify unaffected

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34
Q

Explain the meaning of 90% sensitivity

A

90% true positives

10% false negatives

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35
Q

Explain the meaning of 90% specificity

A

90% true negatives

10% false positives

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36
Q

Arrange blastocyst, zygote, 8 cell stage, morula in order

A

Zygote
8 cell stage
Morula
Blastocyst

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37
Q

Normal sperm count

A

100 million sperm/ ml of semen

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38
Q

Normal sperm motility

A

> 40% motile after 2 hours

Some motile after 24 hours

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39
Q

What’s the word describing a series of rapid mitotic devisions with lack of growth between?

A

Cleavage

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40
Q

What’s placenta accreta?

A

Abnormal invasion of endometrium and myometrium of uterus

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41
Q

What converts bilayered blastula into a trilaminar embryo?

A

Gastrulation

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42
Q

During gastrulation the notochord comes into contact with ectoderm, causing?

A

Start of neuralation

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43
Q

What is the first sign of gastrulation?

A

Formation of primitive streak

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44
Q

What does the bilaminar embryo consist of?

A

Epiblast and hypoblast

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45
Q

What does the trilaminar embryo consist of?

A

Ectoderm
Mesoderm
Endoderm

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46
Q

Name 11 mesodermal derivatives

A 
Cranium
Dentine
Muscles of head 
Muscle of viscera
Blood and lymph cells 
Primordial heart
Pericardium 
Peritoneum 
Dermis (skin)
Adrenal cortex
Urogenital system
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47
Q

Name endodermal derivatives

A

Epithelium of GIT, liver, pancreas, resp tree

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48
Q

What’s spina bifida?

A

Defect in closure of neural tube

Malformation of brain and spinal cord

49
Q

What to wnt proteins do?

A

Induce ectodermally/ mesodermally derived tissues

50
Q

What do sonic hedgehog proteins do?

A

Induce neural patterning

Patterns somites

51
Q

What do TGFbeta do?

A

Regulate cell differentiation

52
Q

In neurulation, what is the ectoderm divided into?

A

Epidermis
Neural crest
Neural tube

53
Q

What is the prosencephalon?

A

Forebrain

54
Q

What is the mesencephalon?

A

The midbrain

55
Q

What is the rhombencephalon?

A

The hindbrain

56
Q

What are the 5 secondary brain vesicles?

A 
(Mike Mackey makes divine turkey) 
(Inferior)
Myelencephalon 
Metencephalon
Mesencephalon
Diencephalon
Telencephalon
(Superior)
57
Q

What genes specify somites unique positional values along axis?
E.g. Thoracic vertebrae have ribs, lumbar do not

A

Hox (homeotic) genes

58
Q

3 different regions of somites?

A

Sclerotome
Myotome
Dermatome

59
Q

What does sclerotome form?

A

Cartilage of axial skeleton

60
Q

What does myotome form?

A

Muscles of rib cage/ limbs/ back

61
Q

What does dermatome form?

A

Cells that contribute to connective tissue of dermis

62
Q

3 main principles of teratogenesis

A

Dosage
Time and length of exposure
Genotype of embryo

63
Q

When is the greatest risk of teratogenesis?

A

Week 3-11

64
Q

When do most malformations occur?

A

Week 3-8

65
Q

What is a syndrome?

A

Pattern of malformations occurring together

Specific common cause

66
Q

What’s triploidy? How many chromosomes?

A

3 copies of each chromosome

69 chromosomes

67
Q

What’s trisomy? How many chromosomes?

A

Single extra chromosome

47 chromosomes

68
Q

Signs and symptoms of cri du chat syndrome

A

Catlike cry
Microcephaly
Mental retardation
Congenital heart problems

69
Q

What’s eugenics?

A

Science of improving a population
By controlled breeding
To inc occurrence of desirable heritable characteristics

70
Q

Effects of congenital rubella syndrome

A

Cataracts
Cardiac defects
Deafness
Mental retardation

71
Q

Effect of tobacco on foetus in pregnancy

A

Can cause intrauterine growth restriction IUGR
Doubles rate of premature delivery
Nicotine:
Affects brain development
Impairs cell growth
Constricts placental blood vessels = less blood flow to infant

72
Q

What sort of bond are dark bands rich in?

A

AT

Dark ATtic

73
Q

When’s the 1st, 2nd and 3rd trimester?

A

1st trimester: week 1 – 12
2nd trimester: week 13 – 28
3rd trimester: week 29 – 40

74
Q

Above what age is considered to increase your risk of having a baby with Down syndrome significantly?

A

35
20 years of age has a risk of one in 1,500
30 years of age has a risk of one in 800
35 years of age has a risk of one in 270
40 years of age has a risk of one in 100
45 years of age has a risk of one in 50 or greater

75
Q

How is the first two weeks of gestation split up into zygote, modula and blastocyst?

A

zygote: day 1-3
morula: day 4-7
blastocyst: day 8-14

76
Q

What is capacitation?

A

Removal of proteins of acrosome plasma membrane, swinging movement of sperm head and whipping movement of flagellum
Lasts around 7 hours
So that the sperm can penetrate the corona radiata
And for acrosome reaction to occur

77
Q

How long is sperm viable for within the female reproductive tract?

A

48hours

78
Q

For how long after ovulation is the oocyte viable for fertilisation?

A

24hours

79
Q

What is polyspermy?

A

Egg that has been fertilised by more than 1 sperm

80
Q

How come the size has not varied a great deal from zygote to blastocyst but the number of cells has?

A

Cleavage - series of rapid mitotic divisions with lack of growth between divisions

81
Q

How many blastomeres (type of cell) make up a zygote, modula and blastocyst?

A

zygote - 1 blastomeres
morula - 16 blastomeres
blastocyst - 32 blastomeres

82
Q

How is the mesoderm formed?

A

Invagination and lateral migration of epiblast cells

83
Q

What is the notochord?

A

Mesodermal hollow tube extending from primitive node

84
Q

When is the notochord process formation complete?

Describe what happens as it was elongating

A

Day 20

Notochord process elongation parallels regression of primitive streak

85
Q

What is the mildest form of spina bifida? what are its signs/ symptoms?

A

Spina bifida occulta
Dimple/ tuft of hair
Vertebrae do not fuse dorsally - no pain/ neurological disorder

86
Q

What are somites?

A

Paired blocks of mesoderm either side of neural tube at all levels

87
Q

X linked recessive condition:

If mother is not affected (not even a carrier) and father is affected, how would it affect the children?

A

No affected sons

All daughters are carriers

88
Q

What are the 3 consequences of fertilisation?

A

Restoration of diploid number
Sex determination
Induction of cleavage

89
Q

What does the hypoblast give rise to?

A

Endoderm

90
Q

What does the epiblast give rise to?

A

Ectoderm and mesoderm

91
Q

What is the cortical reaction and what is its function?

A

Release of cortical granules from oocyte

Slow block of polyspermy

92
Q

What are the stages of the cell cycle, which is missing in cleavage?

A

M phase: Prophase, Metaphase, Anaphase, Telophase (PMAT - mitosis) and Cytokinesis
G1 phase - cell growth
S phase - DNA replication
G2 phase - Preparation for mitosis

G1 phase - cell growth missing in cleavage

93
Q

What is made from the ectoderm?

A 
EPIDERMIS 
Epidermis
Hair
Nails cutaneous 
Lens
Ant pit gland 
Tooth enamel 
NEURAL CREST - PNS
Medulla of adrenal glands 
Melanocytes 
Cartilage 
Bone 
Parasympathetic nerves of gut 
NEURAL TUBE - brain 
Post pit gland
Retina
Spinal cord 
Motor neurons

Pineal body
Mammary glands
Inner ear
Cranial sensory ganglia and nerves

94
Q

What does variable expression mean?

A

Signs and symptoms differ between different sufferers

95
Q

What does incomplete penetrance mean?

A

Some with the mutation do not develop features of the disorder

96
Q

What is Tay sachs?

A

Mutation in HEX-A gene on chromosome 15
for hexosaminidase enzyme
= fatty buid up in brain

97
Q

What is the commonest childhood neuromuscular condition?

A

Duchene muscular dystrophy

98
Q

What are the manifestations of beckwith-wiedermann syndrome?

A 
Accelerated growth 
Macroglossia 
Umbilical hernia 
Omphalocele (hernia into umbilical cord)
Neonatal hypoglycaemia 
Increased cancer risk
99
Q

What are the manifestations of prader-willi syndrome?

A 
Developmental delay 
Learning difficulties 
Insatiable appetite 
Obesity 
hypotonia, feeding difficulties, poor growth in babies
100
Q

What are the manifestations of angelman syndrome?

A 
Developmental delay 
Intellectual disability 
Speech impairment 
Microcephaly 
Seizures 
Happy demeanour 
Hand flapping
101
Q

What is mosaicism?

A

2 or more cell lines with different genetic/ chromosomal constitutions within a single individual/ tissue
Occurs after fertilisation

102
Q

If both parents are carriers of an autosomal recessive condition, what chance do their unaffected children have of being carriers too?

A

2/3

*of unaffected children

103
Q

What is the chromosomal abnormality in Turners syndrome?

What are the clinical manifestations?

A

Monosomy X
Short stature
Infertility due to incomplete ovarian development
Approx. 10% risk of coarctation of the aorta
Normal intelligence
Almost normal life expectancy

104
Q

What is the chromosomal abnormality in Patau syndrome?

What are the clinical manifestations?

A 
Trisomy 13
High mortality rate
Congenital heart defects
Cleft palate
Microcephaly 
Neural tube defects
105
Q

What is the chromosomal abnormality in DiGeorge syndrome?

What are the clinical manifestations?

A

Deletion on 22q11
Heart defects
Learning difficulties
Cleft palate

106
Q 
What type of inheritance do the following show?
Huntingtons disease
Marfan syndrome 
Familial hypercholesterolaemia 
Familial adenomatous polyposis 
Hereditary breast/ ovarian cancer 
Long QT syndrome
A

Autosomal dominant

107
Q

What type of inheritance do the following show?
Cystic fibrosis
Sickle cell anaemia
Tay sachs

A

Autosomal recessive

108
Q

What type of inheritance do the following show?
Duchenne muscular dystrophy
Haemophilia A
Red-green colour blindness

A

X linked recessive

109
Q

What is teratogenesis?

A

Process by which congenital malformations are produced in an embryo/ foetus

110
Q

What’s the difference between malformation, disruption and deformation?

A

Malformations occur during formation of structures, caused by environmental/ genetic factors
Disruptions alter pre-existing structures by destructive processes
Deformation - mechanical factors mould foetal parts over prolonged period

111
Q

What’s an abortus?

A

Aborted foetus weighing less than 500g

112
Q

What is the chromosomal abnormality in Edwards syndrome?

What are the clinical manifestations?

A

Trisomy 18 (E for Edwards and eighteen)
Small, abnormally shaped head
Long fingers that overlap, with underdeveloped thumbs and clenched fists
Cleft lip and palate
Exomphalos (where the intestines are held in a sac outside the tummy)
Heart and kidney problems
Feeding problems – leading to poor growth
Breathing problems
Hernias in the wall of their stomach
Bone abnormalities – e.g. scoliosis
Frequent infections of the lungs and urinary system
Severe learning disability

113
Q

What’s a fragile site codon?

A

CGG repeats

Liable to microdeletions

114
Q

What can exposure to radiation in pregnant women result in?

A 
Microcephaly 
Skull defects
Spina bifida 
Blindness 
Cleft palate 
Limb defects
115
Q

Which is the smallest/ largest chromosome?

A

smallest: chromosome 21
largest: chromosome 1

116
Q

What sort of bond are light bands rich in?

What do light bands represent?

A

GC
(Dark Attic)
Less condensed chromatin - transcriptionally active

117
Q

How can trisomy arise?

A

Non-disjunction at meiosis I resulting in 50% of cells trisomic and 50% monosomic
Non-disjunction at meiosis II resulting in 50% of cells ok, 25% monosomic and 25% trisomic

118
Q

What are the 2 mechanisms at fertilisation of producing triploidy?

A

Diandry - monoploid oocyte fertilised by diploid sperm/ 2 monoploid sperms
Digyny - diploid oocyte fertilised by monoploid sperm

119
Q

What is a barr body?

A

Condensed X chromosome - not totally inactive

Year 2 (13 decks)

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