Block 11 Flashcards
(199 cards)
1
Q
What does the term congenital mean?
A
A defect that was present at birth. Does not denote the aetiology of the defect.
2
Q
What is the combined incidence of congenital abnormalities?
A
~ 2-3%
3
Q
What is the main cause of peri-natal deaths.
A
Congenital abnormalities > 80% for children below 1m.
4
Q
Give some examples of single 1˚ congenital defects.
A
DDH
Cleft lip/palate
Neural tube defects (spina bifida)
Cardiac septal defects
5
Q
What are the classifications of single 1˚ congenital defects?
A
Malformation
Disruption
Deformation
6
Q
What is the aetiology of a congenital malformation?
A
Genetic or environmental influence during ORGANOGENESIS (multifactorial)
7
Q
What is the aetiology of a congenital disruption?
A
A destructive process after organ formation
- amniotic bands = limb amputation
- cardiovascular events = poland anomaly
8
Q
What is the aetiology of a congenital deformation?
A
Moulding of a body part that has differentiated normally - a result of mechanical forces (DDH)
9
Q
What is a teratogen? Give some examples.
A
An environmental agent that causes congenital abnormalities of either form or function.
Medication (thalidomide)
Infectious agents (TORCH)
Physical (ionising radiation)
Recreational drugs (cocaine, alcohol, smoking)
Maternal metabolic disorders (high blood glucose in diabetes)
10
Q
In what stage of division is the oocyte released from the ovaries?
A
In the process of the metaphase of meiosis 2. It has already undergone one meiotic division forming a polar body. Meiosis 2 continues to form the 2nd polar body after entry of the sperm.
11
Q
What are the components of the female reproductive system that aid movement of the sperm and egg?
A
Egg: cilia, fimbrea
Sperm: contractions of fallopian tubes, oxytocin (also male seminal fluid)
12
Q
In what part of the female reproductive tract is it most common for eggs to be fertilised?
A
The ampulla of uterine tube.
13
Q
What are the different sections of the uterine tube from ovary to uterus?
A
Fimbrae –> infudibulum –> ampulla –> isthmus –> pars uterina
14
Q
What is capacitatoin?
A
The process which the sperm must undergo if it is to be capable of fertilising the oocyte. It occurs in the beginning of the female reproductive tract, taking around 7h. Its main function is to increase the affinity of the sperm for the receptors on the zona pellucida (ZP-3) on the oocyte.
- Activation of Ca2+ channels
- Increase in intracellular cAMP
- removal of seminal de-capacitation factors from the head of the sperm
15
Q
What are the 3 layers of the oocyte?
A
Oolema = oocyte cell membrane
(perivitelline space )
Zona pellucida
Corona radiata
16
Q
When does the oocyte fully mature?
A
Just after entry of the sperm. This triggers resumption of the 2˚ meiotic division and expulsion of the 2nd polar body into the perivitelline space. This is when the oocyte becomes truly haploid (albeit for a short period of time).
17
Q
What happens to the oocyte directly after it has been fertilised?
A
Post-perfusion reaction = 2 stages
- depolarisation of the oolemma to prevent polyspermy by electrical block FAST
- Cortical reaction = fusion of cortical granules to the zonal pellucida causing degradation of ZP-3 receptors and formation of perivitelline barrier.
18
Q
What are the different stages of early embryogenesis? (up to 3 weeks)
A
Zygote Morula Blastocyst Bi-laminar disk (8-10) Gastrulation (16-18) Tri-laminar disk Notochord formation Neurulation Mesoderm differentiation (18-22) Separation of mesoderm Folding of amniotic cavity (23)
19
Q
What is a morula?
A
A mass of 16 cells which is the same size as the original zygote.
20
Q
What is a blastocyst?
A
Formes from a morula when it gets too large and has to form cavity for nutrient diffusion. Composed of inner and outer cell masses.
21
Q
What is a bi-laminar disk?
A
Early stage of embryo formation. Division of the inner cell mass of blastocyst to form epiblast and hypoblast. All of embryo comes from epiblast.
22
Q
What are the different areas of the blastocyst at the time of the bi-laminar disk?
A
Outer cell mass (trophoblast) Amniotic cavity Epiblast Hypoblast Blastocyst cavity (primitive yolk sac)
23
Q
Describe the process of gastrulation.
A
Epiblast differentiates to: primitive streak, primitive pit and primitive node. Epiblast cells migrate through the primitive streak and repopulate the hypoblast to form 3 new layers.
Endoderm
Mesoderm
Ectoderm
24
Q
What is the notochord?
A
An important signalling structure within the mesoderm. Formed from a ectoderm invagination
25
Describe the process of neurulation.
Ectoderm folds to form neural groove and neural folds. Neural groove deepens to form neural tube within the mesoderm. On top of the notochord.
26
What are the different sections which mesoderm differentiates into?
Centrally = somatic mesoderm surrounding neural tube
Laterally = intermediate mesoderm
More laterally = lateral plate mesoderm (differentiates into splanchnic and parietal mesoderm)
27
Describe the folding of the mesoderm layers and the formation of the basic body shape.
Splanchnic mesoderm and endoderm fold inwards - pinching off the primitive yolk sac to form the gut tube.
Parietal mesoderm along with endoderm fold round the outside to form the exterior body wall. Bringing with them the amniotic cavity which finishes surrounding the foetus.
28
What is the vitelline duct and what does it contain?
Formed when the foetus folds round to create the body tubes. It is formed from the pinching of the primitive yolk sac by the endoderm and ectoderm. It is obliterated at ~ 6w development when the primitive yolk sac disappears.
29
Describe how a pregnancy test works.
Tests for the presence of HCG which is secreted in large amounts during early pregnancy.
Lines on the strip.
1 = monoclonal HCG antibody
2 = polyclonal HCG antibody
3 = reative goat antibodies
The 1 and 3 strips are for control. Urine carries 1 up to 3 where it binds, forming a colour = control strip.
If -ve, HCG binds with 1 and the bound 1 binds again with 2 to create a coloured line. Not all of 1 binds with HCG so unbound can bind to 3 to give a 2nd line.
30
What is the reason for the control line on a pregnancy test?
To reduce the rates of false negative results.
Because if no lines then indicative of error or faulty strip etc. If the control line wasn't there then no way to tell between real and false negatives.
31
Describe the formation and function of HCG in early pregnancy.
Human Chorionic Gonadotropin (HCG) is produced by the trophoblast cells of the implanted embryo and can be measured in the blood ~ 8 days after fertilisation as it takes this time for the embryo to implant.
Prevents involution of the corpus luteum in the ovaries, therefore preventing menstruation. In early pregnancy the corpus luteum produces protective oestrogen and progesterone which prevent menstruation.
After 7w the placenta takes over this function so the CL is no longer required and the levels of HCG dip.
Levels peek ~7w and then decrease but remain elevated throughout pregnancy
32
What is the function of oestrogen in pregnancy?
Causes organ enlargement:
- uterus
- breast (enlargement and ductal differentiation)
- external genitalia
ALSO relaxation of pelvic ligaments (symphysis pubis) to allow freer movement of pelvic joints.
33
What is the function of progesterone in pregnancy?
Development of endometrial decidual cells
Decreases contractility of pregnant uterus
Increases nutrient secretion of uterine tubes and uterus
Preparation of the breasts for lactation.
34
What are the different methods of assisted reproduction?
```
IVF
Surrogacy
Medication
Gamete intra-fallopian transfer
Artificial insemination
Reproductive surgery
```
35
What is the single biggest risk with IVF and what is being used to combat it?
Multiple pregnancy: miscarriage, anaemia, haemorrhage, early labour, pre-eclampsia, gestational diabetes
Elective single embryo transfer (eSET) = no more than 2 embryos should be transferred.
36
Under what eSET conditions can 2 embryos be transferred?
```
<37 = 2nd if no top quality and 3rd time
37-39 = 1st and 2nd if no top quality
39 = always
```
37
What are the risks of multiple pregnancy?
```
BABY:
Premature birth
Small birth weight
Cerebral palsy
Improper separation
Miscarriage
```
MOTHER:
20% with pregnancy induced hypertension
Increased risk of preeclampsia
Increased risk of gestational diabetes
38
What is ovarian hyper stimulation syndrome?
Is a major risk of many different forms of assisted reproduction. Occurs as a result of HCG injections after oocyte maturation
3 stages: mild, moderate, severe
Mild = slightly enlarged ovaries, ascites, abdo pain, nausea, diarrhoea
Moderate = as mild w/: excessive weight gain, vomiting, thirst, oligurea
Severe: as moderate w/: SOB, pleural effusion, anurea, chest pain, haemoconcentration, thrombosis
39
What is the incidence of difficulty conceiving?
3.5 million = 1 in 7 in UK
40
What are the broad categories of couple infertility?
Female = 1/3:
polycystic ovaries, early onset menopause, chronic illness, womb damage, fallopian tube damage, pelvic inflammatory disease, endometriosis
Male = 1/3:
Low sperm count, low sperm motility, abnormal sperm, testicular damage, ejaculatory disorders, erectile dysfunction
1/3 = unknown
41
What are three patient factors which can have a big impact on fertility?
Stress (reduced sperm, reduced ovulation, partner relations, reduce libido)
Age (20% at 30 -- 5% at 40)
Weight
42
What are the two categories of support that would be of use to infertile couples? Give some examples of each.
Emotional support:
coping strategies, frustration, stress, social pressures, continued access to professional support
```
Therapeutic support:
Grief work (impact of infertility), alternative life goals, conflict resolution, interpersonal problems
```
43
Give the number of couples who haven't conceived by: 1month, 6months, 12months, 18months, 24months.
```
1 month = 20%
6 months = 70%
12 months = 85%
----> cut off for 'difficulty conceiving'
18 months = 90%
24 months = 95%
```
44
What are the main categories of physiological change within pregnancy?
```
Weight
Metabolism
Cardiovascular system
Respiratory system
Urinary system
```
45
Describe weight gain in pregnancy.
Normal to gain ~ 11kg (mainly in the last 2 trimesters)
- foetus = 3kg
- amnion = 2kg
- uterus = 1kg
- breasts = 1kg
- extra fluid (blood etc.) = 3kg
- fat = 1-2kg
However, weight gain can be as large as 30kg due to the increased appetite of pregnancy = FAT
46
What is the symphysis-fundal height?
A measure of the size of the 'baby bump' from the symphysis pubis to the funds of the uterus. Is around the same in cm as number of weeks gestation.
47
What are the cardiac changes in pregnancy?
Cardiac output increases by ~40%
Rate increases 20%
Stroke volume increases 20%
Size increases 12% (athletic remodelling)
Increased blood volume --> increased preload --> increased atrial size
Blood volume increases ~20% = 1-2 litres. This is due mainly to H2O retention and is to give a safety factor incase of parturition haemorrhage.
48
What are the respiratory changes in pregnancy?
```
Increased respiratory effort
20% more O2 consumed
Elevated diaphragm
Rib cage displaced upwards
Chemoreceptor sensitivity increased = deeper breathing
Ventilation rate increased 50%
```
49
What are the urinary changes in pregnancy?
Enlargement of the kidneys
= increased waste excretion
= increased Na+ reabsorption
= increased blood flow and haemodilution
Decreased bladder tone and displaced ureters = increased probability of vesicoureteral reflux = increased UTI
50
Why are UTIs more common in pregnancy?
Increased vesicoureteral reflux
Increased urinary stasis
Increased glucose excretion
51
What are the foods to AVOID during pregnancy?
Vitamine A = liver and multivitamin tablets
Mouldy cheese
Undercooked meets
Pate
Raw fish
Un-pasturised milk (All these may contain listeria)
52
What are the main medications to be aware of in pregnancy?
```
Paracetamol = safe
Laxatives = safe
Antihistamines = chlorphenamine is safe
```
IBUPROFEN IS NOT SAFE
Consult doctor before taking other medications
53
What are the main supplements to be aware of in pregnancy?
FOLIC ACID = most important
Vit. D = recommended for pregnancy and breast feeding
Iodine = take or leave
Iron = increased risk of iron deficiency anaemia in pregnancy (increased haematopoiesis)
54
Why is folic acid so important in pregnancy?
Reduces the risk of improper neural tube formation and neural tube defects = congenital malformation
This occurs early in pregnancy so it is important to take folic acid when trying for a baby because the neural tube formation may have already occurred by the time you find out you are pregnant.
55
What are the things that must be done if a doctor is to conscientiously object to a procedure?
Inform employer
Inform patients ideally in advance
Be open with patients and colleagues
MUST'NT compromise patient care
Dont cause distress to the patient
Dont imply judgement on the patient
Tell the patient they have the right to speak with other professionals without the same view
Advise them objectively about the procedure
Make sure patient can go to another doctor, if necessary refer them personally
MUST NOT OBSTRUCT PATIENT
MUST BE RESPECTFUL OF PATIENTS VIEWS AND DIGNITY
56
What effects can smoking have on pregnancy?
Increases the risk of miscarriage
Slows babies growth: low birth weight, premature birth, still birth
57
What are the main lifestyle choices to avoid in pregnancy
Smoking
Alcohol
Recreational drugs
Dangerous sports/activities
58
What effects can alcohol have on pregnancy?
Increases risk of premature birth
Increases risk of brain damage
High intake can cause foetal alcohol syndrome = brain damage, low birth weight & facial deformities
59
Are exercise and sex safe during pregnancy?
Yes
Exercise: moderate (safe) exercise recommended 30mins per day
Sex: generally safe but avoid with vaginal bleeding. Orgasm can give Braxton-Hicks contractions which aren't real and go away after a time.
60
Why is antenatal care important?
Improves maternal, perinatal and neonatal outcomes
61
What are the two important aspects of antenatal care?
Give all mothers the important information about their pregnancy and newborn care
Identify the women who will require extra specialist support during and after pregnancy
62
What are the main aims of antenatal care?
Provide suitable (quality and understandable) information to mothers
Provide an informed choice about antenatal pathways
Screen for and identify maternal complications
Screen for and identify foetal complications
Assess maternal and foetal wellbeing throughout pregnancy
Provide advice and education on the normal symptoms of pregnancy
63
What professionals are part of the MDT responsible for antenatal care?
```
GPs
Community midwives
Hospital midwives
Obstetricians
Physiotherapists
Social workers
```
64
What are the 7 criteria for a screening test?
Disease is a significant halt problem
Must be a pre-clinical stage to the disease
Must be a suitable test for the disease (low false positive and false negative rate)
Test would be acceptable to general population
Agreed policy on who to treat after +ve result
Acceptable and effective treatment for +ve patients
Cost effective
65
What are some categories of women who will require additional care during pregnancy?
```
Maternal chronic disease
Overweight or underweight
>40 yrs
Difficult previous pregnancy or birth
Previous abnormal babies
```
66
What is the importance of the 10w antenatal booking appointment?
Identify women who might require additional care
Measure normal standards for woman (BP, height, weight etc.)
Determine risk factors for pregnancy
Offer screening tests (rhesus D, blood diseases, chlamydia, downs etc.)
Offer gestational abnormalities scans
Identify possible mood disorders
Inform woman on normal pregnancy
Inform about nutrition and supplements
Arrange further appointments
67
What is procreative autonomy?
To have control over ones reproductive capabilities. The freedom to choose whether or not to have children
68
What are the 3 main ethical objections to the use of IVF?
It involves the destruction of embryos
It is harmful to those trying to conceive (low success rate)
It is 'unnatural'
69
What is the average success rate for a round of IVF?
1/3
Although varies dramatically with factors such as: age, weight, lifestyle etc.
Decreases steadily to <2% by 45yrs
70
What is 'the right to an open future'
The ethical argument that children should be given the maximally open future. An argument often given for the termination of embryos that will grow to have serious disabilities/illnesses.
71
What is the 'welfare criterion' of ART and come criticisms of this?
That a woman shall not be provided with ARTs unless the welfare of the future child has been accounted for. Including the need for supportive parenting.
"supportive parenting" used to say "father"
1) Unfair because not with fertile couples
2) Predicting welfare is difficult
72
What is PIGD and some possible uses of it?
Screening of cells before implantation to ensure embryo doesn't have certain genetic traits.
Cystic fibrosis, downs, sex selection, 'saviour siblings'
73
What UK law legalised abortion?
The abortion act 1967 (amended 1990)
74
What are the criteria for legalised abortion in the UK?
< 24 weeks
Continuation would cause severe mental or physical damage to mother
Continuation would involve risk to life of mother
Substantial risk of mental or physical abnormalities to the child if born.
75
What are the 3 categories of errors that, combined, can lead to adverse events in hospitals?
Active failure = frontline error
System failure = an error in the management
Equipment failure = can be front line or system
76
What is the difference between a random and systematic error?
A systematic error is within the 'system' and all give the same error of the same amount and type each time. Predictable.
A random error is unpredictable, caused by the individual and is different each time.
77
What are the main reasons for a doctor not following the set rules for a specific situation?
Routine = has become normal behaviour within a peer group.
Optimising = motive is to improve work situation.
Situational = context dependant (staffing levels)
Reasoned = deliberate deviation thought to be in patients best interest at that time
Malicious = deliberate act intended to had patient or organisation.
78
What are some general factors which can lead increased risk of errors?
```
Unfamiliarity
Inexperience
Shortage of time
Inadequate checking
Poor procedures
Inadequate or incorrect equipment
```
79
What are some factors which can lead to individual errors?
```
Fatigue
Stress
Hunger
Illness
Language or cultural factors
Hazardous attitudes or environment
```
80
What are the advantages and disadvantages of breast feeding?
Advantages:
Nutrition, passive immunity, high cholesterol content (developmental), cheap, maternal closeness, easily digested, helps mother loose weight
Disadvantaged:
Babies feed more often = increased stress, inadequate supply, pain, discomfort, family 'left out', medical conditions of mother, mother can feel unsuccessful if unable, can't be on some medications,
81
What are the advantages and disadvantages of formula feeding?
Advantages:
Baby can be fed no matter the condition of the mother, exact measurements, entire family can be involved, reduced stress for mother, babies need to eat less often.
Disadvantages:
Allergies, expense, lack of immune function, worse composition, no increased maternal closeness.
82
What is colostrum?
The first milk produced by the mother. It is high in: protein, lactose, immunoglobulins. No fat. It is made before parturition and excreted when placental birth decreases oestrogen and progesterone secretion which suppresses excretion.
83
What are the 3 size categories for children and their percentile levels?
SGA = 90th
84
Is it worse to be SGA or to be premature?
SGA babies are at increased risk than AGE infants born at same gestational age. However, being preterm increases a babies risk of disease and death more than being SGA
85
What are the 3 main categories of causes for SGA babies?
Foetal = something that is abnormal with the foetus itself. Chromosomal disorders, congenital abnormalities, TORCH infections
Placental = problems with the placenta not growing correctly and sufficiently to accommodate the growing foetus. Infarction, thrombosis, etc.
Maternal = (most common) conditions within the mother that reduce placental blood flow. Preeclampsia and chronic hypertension. Also includes lifestyle choices: smoking, alcohol, drugs, medication
86
What is the difference between symmetrical and asymmetrical growth restriction and their causes?
Symmetrical = only through foetal abnormalities. The baby is small in length and width and remains small throughout adult life.
Asymmetrical = placental and maternal causes. The baby is about normal length but very thin. These babies have a 'catch up' period where they have increased growth for first 6m of life and then continue to grow normally. They usually have normal size in adult life.
87
What are the important hormones required for the development of the breast and the structures that they came from?
```
LH = ant. pituitary
Prolactin = ant. pituitary
Human placental lactogen = placenta
Oestrogen = ovaties + placenta
Progesterone = ovaries + placenta
```
88
Describe the basic histology of the breast.
Functional unit = secretory alveoli
alveoli --> ductules --> ducts --> surface glands
(sebaceous glands also empty into the lactiferous ducts)
Secretory cells = lactocytes
Ejaculatory cells = myoepithelial cells
89
Why is dealing with children more difficult (ethically and legally) than adults?
Dependent / reliant on other people to take care of them / act in their best interests
May have undeveloped decision-making capacities, including with respect to their understanding
May possess undeveloped value systems, which makes questions regarding what is in their best interests difficult to answer sometimes
Possess limited powers (physical, emotional and legal) with respect to defending their rights
90
Who is responsible for decision making in under 16s? All possibilities.
If child is Gillick competent the consent of the patient is sufficient (but note not the same for refusals)
If not competent consent from one person with parental responsibility is sufficient
Those with parental responsibility have a legal obligation to act in child’s best interests
If parents fail to consent for treatment that is in child’s best interests then courts should be involved.
In case of emergency doctors should treat a patient
91
Who has parental responsibility for a child?
```
Mother
Father (married, birth certificate, court)
Adopted patents
Guardian
Local authority if court appointed
```
92
What has to be taken into consideration when determining 'best interest' of a child?
```
Views of the child
Views of the parents
Culture of the family
Views of other health care professionals
The choice (if >1) that has the least impact on the child's future welfare.
```
93
What is the 'harm principle'?
The conjecture that the only purpose for which any power can be rightfully exercised over any member of a civilised community, against his will is to PREVENT HARM TO OTHERS.
(Compulsary vaccination?)
94
How does confidentiality with children work?
Have a right of confidentiality if deemed competent.
However, confidentiality is not absolute and there are cases where it can be broken. Where it is in the child's best interests.
95
When can a child <16 be given contraception?
(a) they understand all aspects of the advice and its implications
(b) you cannot persuade the young person to tell their parents or to allow you to tell them
(c) in relation to contraception and STIs, the young person is very likely to have sex with or without such treatment
(d) their physical or mental health is likely to suffer unless they receive such advice or treatment.
(e) it is in the best interests of the young person to receive the advice and treatment without parental knowledge or consent.
96
When can confidentiality be broken when dealing with <18 sexual activity?
a) a young person too immature to understand or consent
(b) big differences in age, maturity or power between sexual partners
(c) a young person’s sexual partner having a position of trust
(d) force or the threat of force, emotional or psychological pressure, bribery or payment, either to engage in sexual activity or to keep it secret
(e) drugs or alcohol used to influence a young person to engage in sexual activity when they otherwise would not
(f) a person known to the police or child protection agencies as having had abusive relationships with children or young people.
97
Describe the process of lactogenesis from pregnancy to postpartum.
Increase in oestrogen and progesterone secretion from the placenta increases breast development to form the acinar system.
Prolacin produced from anterior pituitary ~16w to begin milk production. Oestrogen and progesterone inhibit oxytocin which is responsible for milk secretion.
At birth prolactin levels return to normal. Suckling of the baby stimulates its production which leads to large peaks until breastfeeding stops.
98
Describe the process of suckling which leads to milk production.
2 stages. Milk production and milk secretion.
Somatic neurones --> hypothalamus --> reduction in prolactin inhibitory hormone --> prolactin production from ant. pituitary --> milk production from lactocytes
Somatic neurones --> hypothalamus --> post. pituitary --> oxytocin release --> contraction of myoepithalial cells --> milk excretion.
Oxytocin is secreted by the hypothalamus but stored in the posterior pituitary until needed.
99
What is breast involution?
Apoptosis of the secretory element of the breast tissue. Takes around 1m from last feed.
100
What are the three stages of labour?
1 = From regular contractions to 10cm dilation
2 = From full dilation until delivery of baby
3 = From delivery of baby to delivery of placenta
101
How long approximately does each stage of labor take?
```
1 = 10h
2 = 1h
3 = 0.25h
```
Around half the time (of stage 1) for multiparous women
102
What happens directly after placental delivery?
The uterus contracts sharply to seal off its spiral arteries and prevent excess blood loss.
103
What are the aspects of labour that are closely monitored?
```
Amniotic fluid
Cervical dilatation
Progression
Contractions
Mothers heart
Foetal heart
Foetal blood
```
104
Why is the foetal heart rate especially important to monitor during labour?
Because it is closely liked to blood O2 sats. A drop in sats causes a drop in heart rate. This usually corresponds to the distress caused by uterine contraction.
105
What is the time between contractions during each stage of labour?
```
1 = ~ 10min
2 = ~ 1min
```
106
What are the two changes that occur to the cervix during labour?
Dilatation = full is 10cm
Effacement:
shortening of the canal from 2cm to paper thin, pulling the muscles of the external os up and out.
Cervical effacement leads to the formation of the forewaters, the front part of the amniotic cavity.
107
What are the changes which lead to the onset of labour?
Mechanical:
Uterine distention
Stretching of the cervix
Biochemical:
Oxytocin, prostaglandins, Angiotensin 2, Histamine, Serotonin.
108
What are the general classes of factors which put a pregnancy at risk?
```
Pre-existing health conditions
Age
Lifestyle factors
Multiple gestation
Conditions of pregnancy
```
109
What are the main classes of breast pain?
Cyclical = most common = follows the menstrual cycle
Non-cyclical = constant or intermittent but not associated with menstrual cycle
Extramammary = interpreted as breast pain but has origin somewhere else.
110
What are some causes of breast pain?
Breast related:
Mastitis, trauma, cysts, tumours, infectious
Musculoskeletal:
Chest wall, rib fracture, shoulder pain, herpes zoster
Other:
Angina, pericarditis, PE, GO reflux, psychological, pregnancy
111
Name some generic lifestyle changes that occur after having a baby.
Routine:
Easy things now hard, work around child
Social :
Not enough time for friends, increased familial help,
Stress:
Lack of sleep, tension,
Family:
Jealousy, parental differences, strengthen as adjustment begins
Work:
May have to change hours
112
What is the normal antenatal appointment schedule?
```
10w = booking
16w = review
20w = abnormality scan
25w = review
28w = review, blood screen, vaccination
31w = review
36w = review
38w = review
40w = review
41w = induction of labour
```
113
What cases would require a non-normal antenatal appointment routine?
```
Multiparous = 7 rather than 10
Previous pregnancy history
Multiple gestations
>40yrs
Family history of problems
BMI >35
```
114
What screening tests are offered for the BABY during antenatal appointments?
```
Anomaly scan
Spina bifida
Sickle cell and thalassaemia
Downs syndrome
Cystic fibrosis
```
115
What vaccinations are offered at antenatal appointments?
Flu
Whooping cough (as part of DTP vaccine)
Tetanus (not compulsory but safe)
116
What is unusual about teenage pregnancies?
Although the women are at the 'evolutionary perfect' age to give birth, they usually have worse outcomes that the rest of the population.
This is due to the medicalisation of pregnancy and how much modern medical care has improved outcomes. Teenagers are less likely to follow correct advice and attend appointments etc.
117
What are the maternal screening tests offered in pregnancy?
```
Blood pressure and urine - for pre-eclampsia
UTI
Gestational diabetes
HIV
Syphilis
Hepatitis B
Rubella
Rhesus D antigen
```
118
What is desmoplasia?
A characteristic histological sign of malignant neoplasia or 2˚ to other injury.
Growth of dense connective tissue, low cellularity, disorganised blood vessels,
119
What are the 9 human herpes viruses and the main diseases that they cause?
HHV-1 = herpes simplex = oral & genital herpes
HHV-2 = herpes simplex = oral & genital herpes
HHV-3 = varicella zoster = chickenpox & shingles
HHV-4 = EBV = infectious mononucleosis
HHV-5 = Cytomegalovirus = infectious mononucleosis
HHV-6a & HHV-6b = Roseolovirus = roseola
HHV-7 = Pityriasis Rosea = roseola
HHV-8 = Karposis sarcoma associated herpes virus = karposis sarcoma
120
Describe the first phase of the menstrual cycle.
Folicular phase. Days 1-14
Culminates in OVULATION at day 14
LH and FSH cause follicular development. Selection of dominant follicle occurs during follicular growth, the rest undergo atrasia.
Just before ovulation, the oestrogen/GnRH -ve feedback cycle becomes +ve causing a massive increase in LH and FSH.
High LH levels cause ovulation!
121
What are the 3 layers of the follicle?
Externally --> Internally
Theca externa
Theca interna
Granulosa cells
122
Describe the process of oestrogen production by the oocyte.
LH --> theca cell development
FSH --> granulosa cell development
Theca cells produce androgens
Granulosa cells convert androgens to oestrogens via AROMATASE enzyme.
123
What controls LH and FSH levels after ovulation?
LH causes granulosa cells to become granulosa lutein cells = formation of corpus luteum
GL cells produce progesterone which acts via -ve feedback on GnRH to decrease levels of LH and FSH.
124
What is the 2nd phase of the menstrual cycle? Describe it.
The luteal phase. Days 14-28
Corpus luteum forms under LH influence and secretes progesterone. This decreases LH & FSH levels and prepares endometrium for implantation. It also produces smaller amounts of oestrogen.
In the absence of implantation and resultant HCG, luteolysis occurs, menstruation occurs and the process begins again.
125
What are the major diseases of pre-term birth?
```
Lung and respiratory system failure
Respiratory distress syndrome
Broncho-pulmonary dysplasia
Apnea
Necrotising enterocolitis
Skin failure
Immature immune system
```
126
What is neonatal respiratory distress syndrome?
A disease that occurs in 80% of babies born <27w
Its incidence decreases as gestational age decreases
Symptoms & signs: rapid breathing, grunting, palor, breath sounds, laboured breathing
Caused by failure to produce surfactant which increases the effort required for each breath = exhaustion.
Treatment = +ve pressure, surfactant, ventilator
127
What is broncho-pulmonary dysplasia?
Definition: requiring O2 >36w
Same incidence curve as RDS but much lower.
A chronic disorder of inflammation following scarring due to RDS.
128
What is neonatal apnea?
A failure of the development of the respiratory CONTROL mechanism = failure to breath properly.
Commonly resolves without chronic implications but may require +ve airway pressure until systems fully develop.
129
What is necrotising enterocolitis?
A disease of low gestational age (3% <33w)
Caused by an inflammatory process of the GI tract
Signs & symptoms: abdo. swelling, pain, hypotension, sepsis
Treatment = antibiotics and bowel rest.
Have to be careful because enteral feeding is required for proper gut development!
130
What are the short and long term complications of necrotising enterocolitis?
Short:
Catheter infection, liver damage, cholestasis, bowel stricture, malabsorption
Long:
Ileostomy, reduced growth, liver failure, failure to thrive.
131
What are the main neonatal hearing tests and the screening processes that neonatal children go through?
1) Otoacoustic emissions test
Speaker and microphone over ear. Picks up echo produced by cochlea.
15% referred for further screening
2) Automated auditory brainstem response test
Records brain activity in response to sound through EEG when clicks are played
3% referred for further testing
3) Diagnostic assessment of hearing
Further audiology testing to find the 1:1000 babies who are born with some impairment.
132
Why do 15% of children fail the initial neonatal hearing test?
Works by identifying echo from cochlea.
Will return positive with ANY form of deafness, the main cause of which are obstructive. Things like glue ear.
133
What are the different levels of childhood deafness?
```
Mild = 20-40 dB
Moderate = 40-70 dB
Severe = 70-95 dB
Profound = >95 dB
```
134
What proportion of children are born with some form of permanent hearing impairment?
~ 1:1000
| Of these, most are congenitally of perinatally acquired. 20% acquired post-natally
135
What are the causes for neonatal hearing impairments?
```
Congenital infection
Ototoxic medication (gentamicin)
Prematurity
Craniofacial abnormalities
Severe neonatal hyperbilirubinaemia
Neurodegenerative disorders
```
136
Describe the basics of Duchenne Muscular Dystrophy/
X-linked
1:3500 male births
Clinical manifestation by 5yrs (wheelchair by 12)
1:3 = random mutations, 2:3 = familial
Caused by a failure of the DMD gene which codes for dystrophin protein in muscles
Dystrophin is a protein which connects actin to the cell membrane and distributes contraction force of the muscle. Without dystrophin the muscles literally pull themselves apart during contraction.
137
What are creatine and creatinine?
Creatine + phosphate --(creatine kinare)--> phosphocreatine
Creatine phosphate in muscles, used for conversion of ADP to ATP early in exercise.
Phosphocreatine breaks down to creatine and phosphate.
Creatinine is a product of the random degeneration of creatine in muscles.
138
What protein, the high presence of which in the blood indicates muscle damage?
Creatine kinase
Converts creatine and phosphate --> phosphocreatine
Only found in the muscles so when muscles break down it is found in the blood. Excreted by the kidneys.
139
What are the diagnostic tests for DMD?
Initially blood test for CK
and clinical observation
2˚ genetic analysis
2˚ muscle biopsy
140
What are the things to consider when looking at the ethics of prenatal testing?
The parents:
```
Autonomy = consent, risks, limitation, unbiased, options
Benificence = health of baby, preparation, reduce anxiety
Non-malifence = high risk, more harm than good?
```
The foetus:
No say in decision, why test when can't change, benefit if helps management, significant risk
141
Describe the process of PCR.
Denaturing of DNA to split strands
Attachment of primers to both strands
Primers extended by DNA polymerase
DNA split again
Process repeated multiple times
In the end, the area of DNA that is replicated the most is the area situated between the two primer regions.
142
What is the normal NHS childhood vaccination schedule?
2months:
5 in 1 (diphtheria, tetanus,pertussis, polio, HiB)
Pneumococcus
Rotavirus
3 months:
5 in 1
Meningitis C
Rotavirus
4 months:
5 in 1
Pneumococcus
12 months:
HiB and Men C booster
MMR
Pneumococcus
2+3 years:
Flu vaccine
3.5 years:
MMR
4 in 1 (diphtheria, tetanus, polio, pertussis)
13 years:
Men C
HPV
143
What breast changes would you expect in breast cancer?
```
Lump
Lymph nodes
Nipple discharge
Inverted nipple
In-drawing of the skin
Redness, scaling and itching of the skin
Pur d'orange
```
144
HCG
Produced by the synctiotrophoblast of the placenta, appears at 10 days post fertilisation and peaks at 9-10 weeks.
Maintains the corpus luteum to produce progesterone and oestrogen until this function is taken over by the placenta.
145
Human placental lactogen
Chemically similar to growth hormone and prolactin.
Increases in parallel with placental size
Decreases glucose sensitivity and antagonises the effects of insulin. Contributes to the development of gestational diabetes.
146
Progesterone
Produced by the luteal cells of the corpus luteum to induce endometrial changes that are favourable for blastocyst implantation.
In late pregnancy, induces immune tolerance for foetus and prevents myometrial contractions.
Produced by the corpus luteum up until 7 weeks, then taken over by the placenta until delivery.
147
Oestrogen
Produced by the granulosa cells of the follicle from androgens (aromatase enzyme) produced by the theca cells.
148
What are the skin changes in pregnancy?
Striae
Spider angioma
Linea nigra
149
What are the cardiovascular changes in pregnancy?
BP decreases in the first trimester and rises, never quite to its pre-preganancy levels
Plasma volume increases 50%
Systemic vascular resistance declines by 30%
Cardiac output increases by 50%
150
What are the haematological changes in pregnancy?
30% increase in RBCs
Increase in WBC
Increase in ESR
Increase in clotting factors = hypercoagulability
151
What are the pulmonary changes in pregnancy?
Tidal volume increase 40%
Ventilation rate increases 40%
Blood pH rises (respiratory alkalosis)
152
What are the renal changes in pregnancy?
Increase in ureteric diameter
50% increase in GFR
Glucosurea
153
What hormones are responsible for grease development?
```
Oestrogen = promotes growth of ducts
Progesterone = stimulates lactocyte development
Prolactin = stimulates milk production
Oxytocin = stimulates milk ejection
```
154
What is the difference in breast before and after first pregnancy?
Before, the breast is mostly fatty tissue --> lobes and lobules and acini develop during pregnancy.
155
What are the two phases of the first week of pregnancy?
Intertubal phase = first 3 days, before the morula enters the uterus. 2, 4 and 8 cell stages.
Intrauterine phase = 3-6 days within the uterus but not implanted. Implantation occurs at day 6, at which point the morula has become the blastocyst.
156
What are the important events in the second week of embryogenesis?
Development of the bilaminar disk = epiblast and hypoblast.
Also, invasion of the maternal sinusoids by synctiotrophoblast from the outer cell mass and the release of HCG from the new placental cells.
157
What are the important events in the third week of embryogenesis?
Trilaminar disk formation when the epiblast migrated through the primitive streak and removes the hypoblast. Forming the ectoderm, mesoderm and endoderm.
158
What are the important events in the fourth to eighth week of embryogenesis?
This is the period of major teratogenesis, the beginning of the formation of the large organ systems.
```
Ectoderm = skin, hair, nails, CNS, special senses
Mesoderm = muscles, cartilage, cardiovascular system, urogenital system
Endoderm = lining of GI and respiratory tracts.
```
159
What causes the change in Mullerian duct to Wolffian duct in the male?
Y chromosome forms anti-mullarian hormone which causes involution. Without AMH, the Mullerian duct becomes the fallopian tubes, uterus, cervix and vagina.
160
What does the Wolffian duct differentiate into in the male?
Testosterone is required for the continued differentiation
Vas deferens, seminal vesicles, epididymis, efferent ducts.
161
What are the 4 zones of the prostate?
Central zone = surrounding the ejaculatory ducts
Peripheral zone = surrounds distal urethra = CANCER
Tranzitional zone = surrounds proximal urethra = BPH
Fibromuscula stroma = devoid of glandular tissue
162
What is the enzyme that converts testosterone to DHT in the prostate?
5-alpha reductase
163
What period of embryogenesis is the greatest risk from teratogens?
3-8 weeks as this is the time the major organs are being formed.
164
What are the major teratogens?
```
TORCH infections
Medication
Ionizing radiation
Environmental exposures
Recreational drugs
```
165
What is Turners syndrome?
45 monosomy X. (Female hypogonadism)
Seen in 10/100,000 births
absence of 2˚ sexual characteristics, short stature, amenorrhea, infertility, broad chest, neck webbing, urinary abnormalities, aortic coarctation, IQ normal
166
What is Klinefelter Syndrome?
```
47 XXY (Male hypogonadism)
Seen in 1/2000 births
```
Diagnosis is seldom made before puberty.
Tall stature, testicular atrophy, gynecomastia, obesity, low IQ (learning disorder)
167
What is Down's syndrome?
Trisomy 21
Seen in 1/800 births (50% of birth genetic abnormalities)
Incidence increases with maternal age
Mental retardation, short stature, short neck, oblique palpebral fissures, epicanthic folds, short nasal bridge, small ears, protruding tongue, simian crease,
Congenital heart disease and early onset Alzheimer's are very common.
168
What is Edward's syndrome?
Trisomy 18
Seen more frequently with increasing maternal age
Profound mental retardation, rocker bottom feat, clenched fists.
Survival to 1 year is only 40%
169
What is Patau syndrome?
Trisomy 13
Seen more frequently with advancing maternal age.
Profound mental retardation, cyclopea, severe cleft lip and palate.
Survival to 1 year is only 40%
170
What are the main autosomal dominant genetic conditions?
Marfan syndrome, PKD, neurofibromatosis, Huntington's, achondroplasia, osteogenesis imperfecta
171
What are the main autosomal recessive genetic conditions?
Deafness, CF, sickle cell anaemia, Thalassaemia, Wilson disease.
172
What are the main X-linked genetic conditions?
Haemophilia A, Diabetes insipidus, DMD, hyrocephalus, colour blindness, androgen insensitivity.
173
What are the methods of pregnancy diagnosis?
```
Presumptive = amenorrhoea
Probably = Related to mother = HCG, increased uterine size
Definitive = Related to foetus = Ultrasound, foetal heart beat
```
174
How can due date be calculated?
Last menstrual period - 3 months, + 7 days
175
What are the risk factors for an at-risk pregnancy?
Maternal factors = previous complications
Medical history = chronic disease, diabetes, hypertension, EPILEPSY, anaemia
Social history = educational level, support, abusive relationship,
FHx = inherited diseases, birth defects, mental retardation
Lifestyle = tobacco, alcohol, recreational drugs, poor nutrition
176
What is the name for spontaneous contractions that can occur early in pregnancy, especially during orgasm?
Braxton-Hicks contractions.
177
What are the unsafe vaccinations to be given in pregnancy?
Measles, Mumps, Rubella, Polio, VZV, yellow fever
178
What are the key screening programmes in pregnancy and the antenatal period?
```
Downs screening
Foetal abnormality
Sickle cell and thalassaemia
Infectious diseases in pregnancy
Newborn blood spot
Hearing screening
```
179
When are the main screening tests in pregnancy?
Blood test for rhesus group and antibodies = ASAP (>8w)
Blood test for sickle cell + thalassaemia = 0-10w
Blood test for syphilis, hep B, HIV, rubella = 8-12w
Blood test for downs = 10-20w
Early downs scan = 11-14w
Detailed ultrasound scan = 18-20w
Newborn bloodspot test = CF, PKU, hypothyroid, sickle cell = day 5
Newborn hearing screening = 0-5w
180
What is haemolytic disease of the newborn and what is the test to prevent it?
Occurs only in second (or later) pregnancies in a specific set of circumstances.
Mother is rhesus -ve
1st child is rhesus +ve
2nd child is rhesus +ve
During birth of the first child, the child's blood may have entered the mother and she then develops antibodies to the rhesus +ve blood.
In second pregnancies, these antibodies cross the placenta and cause a haemolytic anaemia in the foetus - possibly causing severe morbidity and mortality.
Test = foetal and maternal blood grouping, should occur as soon as the mother presents to the practice (although no earlier than 8w). Should do even if the mother presents at birth.
To prevent, anti-D immunoglobulin should be given to all rhesus -ve women who have not already been sensitised.
181
How is failure to thrive defined?
A significant interruption in the expected rate of growth compared with other children of similar age and sex.
"Dropping through the centiles"
It is not defined as children under a certain centile as that would (by definition) encompass a large number of normally small children.
182
What are the main causes of failure to thrive?
Depends on the part of the world.
In the developing world = malnourishment due to inadequate food supplies.
In the UK:
Prenatal causes = prematurity, malnutrition in utero, TORCH
CNS disorders
Malabsorptive disorders = CF, coeliac, diarrhoea
Poor feeding is still the main cause. Usually due to negligence/ignorance or lack of supervision. Can occur readily in babies of young mothers with little familial support.
183
What are the two forms of small for gestational age?
Symmetrical = suggests a defect with the foetus itself in utero. These babies often remain small throughout life and brain growth may be limited during development.
ALL measurements below 10th centile
Asymmetrical = some form of maternal or placental dysfunction in utero. The baby is normal length but thin. These children usually undergo a growth spirt peripartum and usually have no long term complications.
Only weight below 10th centile, head circumference and length are preserved.
184
How is a premature birth defined?
Delivery before 37w gestation.
185
What are the short term complications of premature birth?
Respiratory:
Risk of RDS increases as prematurity increases
Severely preterm infants risk bronchopulmonary dysplasia
Cardiac:
Patent ductus arteriosus, reduced cardiac function
Neurological:
Increased risk of haemorrhage and hydrocephalus (especially severely premature)
Homeostasis:
Poor temperature control (fat and skin)
Gastrointestinal:
Malabsorption
Necrotizing enterocolitis
Other:
Anaemia, hypoglycaemia, immature immune system
186
What are the long term complications of premature birth?
```
Cerebral palsy
Reduced IQ
Retinopathy of prematurity
Hearing loss
Increased risk of chronic health conditions later in life
Increased risk of SIDS
```
187
What is necrotising enterocolitis?
A severe medical condition seen in premature infants. The second most common cause of their mortality.
Immature development of the GI system combined with irritation of enteric feeding can cause severe chronic inflammation of the GI tract and eventually lead to necrosis, perforation, sepsis, peritonitis and death.
Treatment is supportive and revolves around the resting of the GI system by stopping enteric feeding and IV feeds/fluids.
Monitoring should be constant for signs of deterioration or perforation which may require reparative surgery.
188
What are the two most common diseases seen in premature infants?
Neonatal respiratory distress syndrome
| Necrotising enterocolitis
189
What is neonatal respiratory distress syndrome?
A common condition of prematurity that is caused by immature T2 alveolar cells that have yet to secrete surfactant.
Surfactant is secreted into the alveoli and covers their inner surfaces, decreasing the surface tension of the fluid lining the walls. Doing this, it decreases the elastic recoil of the alveoli and prevents them collapsing during respiration.
In normal babies, the first breath is the hardest as it requires full inspiratory effort to open the alveoli for the first time - after which, they are held open by the reduced surface tension.
In babies with NRDS, all their breaths take up just as much effort, causing fatigue and respiratory failure soon after birth.
190
How is neonatal respiratory distress syndrome managed?
Synthetic lung surfactant to decrease alveolar surface tension.
Dexamethasone corticosteroids postnatal to increase lung development.
Oxygen support ( to maintain >85% sats)
Supportive therapy: homeostasis, fluids, vitals.
If premature birth is suspected, delivery is usually delayed (48h) to allow for antenatal corticosterioids which increase lung development and production of surfactant.
191
What is the main long term consequence of neonatal respiratory distress syndrome?
Bronchopulmonary dysplasia.
Due to lung injury from mechanical ventilation. Can cause growth delays during the peripartum period and beyond. It is a major cause of impaired functioning.
Some of the babies will have respiratory damage that continues into later life - obstructive lung disease and increased risk of later emphysema.
192
What are the levels of prematurity and the major conditions seen at each level?
<28 = very signifiant problems and unlikely to survive.
193
What are the main methods for the prevention of premature birth and the mitigation of concurrent problems?
```
1˚ = Identification of 'at risk' pregnancies, substance abuse, nutrition
2˚ = Fast antenatal identification
3˚ = Fast intervention when complications arise - dependant on the cause.
```
194
What are the main identifiers of an 'at risk pregnancy'?
```
Previous complications of pregnancy
Previous C-section
Multiple foetuses.
Little support
Substance abuse (narcotics, alcohol, smoking)
Advanced maternal age
Chronic medical conditions
```
195
What are the causes of developmental delay?
Any situation where maturation of the CNS is impaired,
Hypoxia in pregnancy (preeclampsia, smoking, etc.)
Meningitis
Congenital: Downs, Edward's, Patau's
Cerebral malformation
196
What are the main visible features of a patient with down's syndrome?
```
Oblique palpebral fissures
Epicanthic folds
Low set ears
Wide set eyes
Low nasal bridge
Simian folds
Protruding tongue w/ open mouth
```
197
What are the main points to consider in the development of a child? Gross categories.
```
Gross motor
Fine motor
Hearing
Vision
Speech
Social skills
Behaviour
```
198
What are the zones of growth at the epiphyseal plate?
Cartilage --> zone of proliferation --> zone of hypertrophy --> zone of calcification --> zone of apoptosis --> cortical bone
199
What are the consequences of growth hormone?
Activation of IGF-1 and 2
| Direct cause of growth
