PBL Topic 3 Case 1 Flashcards

1
Q

What is gastrulation?

A
  • The process that establishes all three germ layers in the embryo
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2
Q

Identify the three germ layers in the embryo and what they form.

A
  • Ectoderm: nervous system
  • Mesoderm, cardiovascular system, renal system, spleen
  • Endoderm, GI tract and epithelia of respiratory systme
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3
Q

Where is the primitive streak located and when is it visible?

A
  • Surface of the epiblast

- Day 15/16

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4
Q

What is invagination?

A
  • Epiblast cells move towards primitive streak
  • They become flask-shaped, detached from the epiblast
  • They slip beneath the epiblast
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5
Q

Describe the molecular regulation of gastrulation.

A
  • Fibroblast Growth Factor 8

- Which down-regulates E-cadherin between epiblast cells

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6
Q

Which cranial nerves does the ectodermal germ layer give rise to?

A
  • Vagus nerve (10)
  • Glossopharyngeal (9)
  • Vestibulocochlear (7)
  • Trigeminal (5)
  • 1975
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7
Q

Describe the molecular regulation of neural plate formation.

A
  • Fibroblast Growth Factor
  • Which upregulates chordin and noggin
  • Which inhibits Bone Morphogenetic Protein
  • Which allows ectoderm to become neural tissue
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8
Q

Describe the process of neurulation.

A
  • Lateral edges of neural plate become elevated to form neural folds
  • Depressed mid-region forms the neural groove
  • Neural folds approach each other in the midline
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9
Q

What is the function of neuropores during neurulation?

A
  • Allow neural tube to communicate with amniotic cavity until neurulation is complete
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10
Q

On which days do the anterior and posterior neuropores close?

A
  • Anterior: day 25

- Posterior: day 28

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11
Q

Identify the transition that neural crest cells undergo

A
  • Epithelial to mesenchymal

- Mesenchyme refers to embryonic connective tissue regardless of origin

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12
Q

Identify the two pathways of neural crest cells.

A
  • Dorsal pathway: to form melanocytes and hair follicles

- Ventral pathway: neurons, Schwann cells and cells of the adrenal medulal

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13
Q

Describe the molecular regulation of neural crest cells.

A
  • Intermediate levels of BMP
  • Which induce transcription factors
  • PAX3, SNAIL, FOXD3 are responsible for specification
  • SLUG which promotes migration
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14
Q

Identify the embryological origin of the structures of hearing and equilibrium

A
  • Otic placodes
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15
Q

Identify the embryological origin of the structures sight

A
  • Lens placodes
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16
Q

Name the three primary brain vesicles and what they refer to.

A
  • Prosencephalon - forebrain
  • Mesencephalon -midbrain
  • Rhombencephalon - hindbrain
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17
Q

Where is the cervical flexure located?

A
  • At the junction between the hindbrain and spinal cord
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18
Q

Where is the cephalic flexure located?

A
  • In the midbrain region
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19
Q

Identify the two portions of the prosencephalon

A
  • Telencephalon

- Diencephalon

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20
Q

Identify the two portions of the rhombencephalon and how are these two structures separated?

A
  • Metencephalon
  • Myelencephalon
  • Pontine flexure
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21
Q

Identify the ventricles of the brain

A
  • Cerebral hemispheres are lateral ventricles
  • Diencephalon is third ventricle
  • Rhombencephalon is fourth ventricle
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22
Q

How are the third and fourth ventricles connected?

A
  • Cerebral aqueduct
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23
Q

How are the lateral ventricles connected to the third ventricle?

A
  • Interventricular foramina of Monroe
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24
Q

Where are neuroepithelial cells located?

A
  • The walls of the recently closed neural tube
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25
Q

Neuroepithelial cells differentiate into what type of cell?

A
  • Neuroblasts which form the mantle layer
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26
Q

What does the mantle layer form?

A
  • Grey matter
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27
Q

What does the marginal layer form?

A
  • White matter

- Which appears white due to myelination

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28
Q

How are basal and alar plates formed and what do they form?

A
  • Thickening of mantle layer due to addition of neuroblasts to form ventral (basal) and dorsal (alar) thickenings
  • Basal plate forms motor areas of spinal cord
  • Alar plate forms sensory areas
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29
Q

What is the name of the longitudinal groove that separates the basal and alar plates?

A
  • Sulcus limitans
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30
Q

In which region is the intermediate horn located?

A
  • T1-L3
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31
Q

Describe the molecular regulation of nerve differentiation in the spinal cord.

A
  • Ventral motor neuron differentiation is dependent on low TGF-B and high SHH
  • Dorsal sensory neuron differentiation is dependent on high TGF-B and low SHH
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32
Q

Outline the epidemiology of spina bifida

A
  • 2/ 1000 births affected

- M:F ratio of 2:3

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33
Q

Describe the pathology of spina bifida occulta.

A
  • Vertebral arches are not covered by skin
  • Does not involve underlying neural tissue
  • Marked by tuft of hair in affected region (typically S1-S2
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34
Q

Describe the three types of Spina Bifida Cystica

A
  • Meningocele, in which fluid-filled meninges protrude through the defect
  • Myelomeningocele, in which neural tissue is included in the sac
  • Myeloschisis, in which neural tube does not elevate but remains flattened
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35
Q

What is an Arnold-Chiari malformation?

A
  • Herniation of part of the cerebellum into the foramen magnum
  • Due to spinal cord being tethered to vertebral column
  • Which pulls the cerebellum into the foramen magnum
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36
Q

Identify three causes of neural tube defects.

A
  • Hyperthermia
  • Valproic acid
  • Hypervitaminosis A
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37
Q

What reduces the occurance of NTDs?

A
  • Folic acid (folate)

- Which is responsible production, repair and functioning of DNA

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38
Q

How does the risk of NTDs increase if folic acid is not taken?

A
  • Risk if one sibling has condition= 4%

- Risk if two siblings have condition = 10%

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39
Q

Where is cerebrospinal fluid secreted from?

A
  • Choroid plexuses of the brain ventricles
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40
Q

Outline the pathway taken by CSF from the choroid plexus to the venous system

A
  • Leaves lateral ventricles through interventricular foramina of Monroe
  • Enters the third ventricle
  • Passes through cerebral aqueduct into fourth ventricle
  • Either enters spinal canal or passes into subarachnoid space through medial and lateral apertures
  • Passes arachnoid granulations into the superior sagittal sinus.
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41
Q

What is the role of CSF?

A
  • ‘Floats’ the brain, providing cushioning

- Gives its buoyancy so that it does not compress the cranial nerves

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42
Q

Outline the pathology of exencephaly

A
  • Failure of cephalic part of neural tube to close
  • Skull does not form so brain is exposed
  • Leading to necrotic tissue (anencephaly)
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43
Q

Which cranial nerves arise from the brain stem?

A
  • Olfactory (1)

- Optic (2)

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44
Q

Which cranial nerve arises from outside the hindbrain?

A
  • Oculomotor (3)
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45
Q

Which cranial nerves arise from the rhombomeres of the hindbrain?

A
  • Trochlea (4)
  • Trigeminal (5)
  • Abducens (6)
  • Facial (7)
  • Vestibulocochlear (8)
  • Glossopharyngeal (9)
  • Vagus (10)
  • Accessory (11)
  • Hypoglossal (12)
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46
Q

What is bipolar disorder?

A
  • Episodes of depression and hypomania (mania if severe)
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47
Q

How is one cycle of bipolar disorder defined?

A
  • From euthymic to manic, to depressed and returns to euthymic
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48
Q

What is the difference between bipolar 1 and bipolar 2?

A
  • Bipolar 1: one or more manic or mixed episodes
  • Bipolar 2: depressive episodes which are more frequent than manic episodes, with a history of at least one hypomanic episode
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49
Q

How heritable is bipolar disorder?

A
  • Very heritable (80%)
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50
Q

What is meant by cyclothymia?

A
  • Personality trait with spontaneous mood swings not sufficient or persistent enough to warrant anther diagnosis
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51
Q

Identify 6 clinical features of mania

A
  • Elevated and irritable
  • Flight of Ideas
  • Grandiose and self-confident
  • Delusions of wealth, power and influence
  • Disinhibition with increased sexual activity, excessive drinking and spending
  • Insomnia
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52
Q

Identify 6 clinical features of depression

A
  • Depressed and irritable
  • Slow, monotonous speech
  • Feelings of guilt, worrying, suicidal thoughts
  • Weight gain / loss
  • Loss of libido / erectile dysfunction
  • Reduced energy lacking motivation
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53
Q

Outline the mechanism of action of lithium

A
  • Inhibition of inositol monophosphatase blocking PI pathway

- Inhibition of glycogen synthase kinase

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54
Q

Identify three adverse effects of short-term lithium use.

A
  • Nausea
  • Vomiting
  • Tremor
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55
Q

Identify three adverse effects of long-term lithium use

A
  • Hypothyroidism
  • Nephrogenic diabetes insipidus
  • Renal failure
  • Patients therefore receive screening of thyroid and renal function prior to starting lithium
56
Q

Why is lithium not advised during pregnancy?

A
  • Lead to Ebstein’s anomaly, a foetal malformation that affects the tricuspid valve
57
Q

Identify three antiepileptic drugs that are used in the treatment of bipolar disorder.

A
  • Sodium valproate
  • Carbamazepine
  • Lamotrigine
58
Q

Outline the mechanism of action of antiepileptic drugs

A
  • Block of sodium channels
  • Enhancing GABA-mediated synaptic inhibition
  • Inhibiting T-type calcium channels
59
Q

Which antiepileptic drug are most effective in treating acute attacks of mania?

A
  • Valproate

- Carbamazepine

60
Q

Which antiepileptic is most effective in preventing the recurrence of both mania and depression?

A
  • Lamotrigine
61
Q

Explain how valproate causes spina bifida.

A
  • Folate antagonist
  • It inhibits dihydrofolate reductase, an enzyme used to activate folic acid
  • Which is essential for production, functioning and repair of DNA
62
Q

Identify four side effects of lamotrigine

A
  • Nausea
  • Dizziness
  • Ataxia
  • Hypersensitivity
63
Q

Identify a side effect of valproate

A
  • Thinning and curling of hair
64
Q

Identify an antipsychotic drug used to treat bipolar disorder.

Describe its mechanism of action

A
  • Olanzapine (given in combination with antidepressant fluoxetine)
  • D2 and 5-HT antagonist properties
65
Q

How are neural tube defects diagnosed?

A
  • Ultrasound
66
Q

What is the banana sign?

A
  • Way in which cerebellum wraps around brain due to spinal cord tethering
  • Resulting in destruction of cisterna magna
  • Cerebellum takes shape of a banana
67
Q

What is the lemon sign?

A
  • Indentation of frontal lobe

- Due to decreased pressure as a result of closure of posterior neuropore

68
Q

How can maternal serum be used to diagnose neural tube defects?

A
  • AFP levels in amniotic fluid and maternal serum are elevated
69
Q

What is meant by a Chiari malformation?

A
  • Congenital defect causing caudal displacement of cerebellum and brainstem
70
Q

What is a Chiari 1 malformation?

A
  • Most common
  • Caudal descent of cerebellar tonsils
  • Remains asymptomatic until adulthood, presenting as headache
  • Associated with hydrocephalus
71
Q

What is a Chiari 2 malformation?

A
  • Caudal descent of cerebellar tonsils and brainstem
  • Presents as lemon sign, banana sign
  • Associated with myelomeningocele
72
Q

What is a Chiari 3 malformation?

A
  • Rare anomoly

- Low occipital and high cervical encephalocele with herniation of posterior fossa contents

73
Q

What is a Chiari 4 malformation?

A
  • Extreme form of cerebellar hyperplasia
74
Q

How are Chiari 1 and 2 malformations treated?

A
  • Posterior fossa decompression surgery to relieve pressure
  • Ventriculoperitoneal shunt to drain CSF
  • Management of neurogenic bladder
75
Q

What is hydrocephalus?

A
  • Abnormal accumulation of CSF within the ventricular system

- Resulting in ventriculomegaly

76
Q

What is communicating hydrocephalus and what causes it?

A
  • CSF is able to leave ventricles but there is obstruction in subarachnoid space / arachnoid granulations
  • Causes include SAH in adults
77
Q

What is an obstructive hydrocephalus and what causes it?

A
  • CSF is unable to leave ventricles due to aqueductal stenosis in newborns or gliomas/cysts in adults
78
Q

What is the treatment for communicating hydrocephalus

A
  • Ventriculoperitoneal shunt
79
Q

What is the treatment for obstructive hydrocephalus

A
  • Ventriculostomy
80
Q

Where are homeobox genes expressed?

A
  • Notochord
  • Prechordal plate
  • Neural plate
81
Q

How many segments is the hindbrain composed of? What name is given to these segments?

A
  • Eight

- Rhombomeres

82
Q

What is the role of HOX genes?

A
  • Specification of forebrain and midbrain

- Causes cranial rhombomeres to differentiate into more caudal types

83
Q

How are HOX genes regulated?

A
  • Retinoids

- Where excess retinoic acid shifts HOX gene expression anteriorly

84
Q

What causes a small hindbrain?

A
  • Retinoic acid deficiency
85
Q

Where are LIM1 and OTX2 expressed and what is their role?

A
  • LIM1: Prechordal plate
  • OTX2: Neural plate
  • Specification of forebrain and midbrain
86
Q

How is LIM1 and OTX2 production induced?

A
  • By anterior neural ridge and rhombencephalic isthmus

- Which secrete FGF8

87
Q

What is holoprosencephaly?

A
  • Loss of midline structures of brain and face
88
Q

Outline 1 severe and 1 mild clinical feature of holoprosencpahly

A
  • Severe: Lateral ventricles fuse into a single telencephalic vesicle
  • Mild: Single incisor tooth
89
Q

Outline the pathophysiology of holoprosencephaly

A
  • Abnormalities in 7-dehydrocholesterol reductase (Smith-Lemli-Opitz syndrome)
  • Reduced cholesterol results in abnormal SHH signalling
  • SHH is responsible for establishing ventral midline in the CNS
90
Q

What is Schizencephaly

A
  • Condition in which large clefts occur in the cerebral hemipsheres
91
Q

Outline the pathophysiology of Schizencephaly

A
  • Mutation in EMX2

- Ossification defects in squamous part of occipital bone

92
Q

Outline 3 types of schizencephaly

A
  • Meningocele: Meninges bulge through opening of occipital bone
  • Meningoencephalocele: Brain bulges through opening of occipital bone
  • Meningohydroencephalocele: Ventricle bulges through opening of occipital bone
93
Q

In which region do neural folds meet each other initially?

A
  • Fifth somite (cervical region)
94
Q

What does the intermediate horn contain?

A
  • Neurones of the sympathetic nervous system
95
Q

Describe the formation of an apolar neuroblast

A
  • Neuroblast migrates into mantle layer
  • Loses its transient dendrite
  • Becomes round and apolar
96
Q

Describe the formation of a bipolar neuroblast

A
  • Apolar neuroblast develops two cytoplasmic processes on opposite sides of the cell body (perikaryon)
97
Q

Describe the formation of a multipolar neuroblast

A
  • Cytoplasmic extensions of bipolar neuroblast develop a primitive axon and dendrite
98
Q

What is a gliablast and how is it formed?

A
  • Primitive supporting cell

- Formed when neuroepithelial cells stop producing neuroblasts

99
Q

What type of glial cell develops in the mantle layer?

A
  • Astrocyte
100
Q

Identify two types of astrocytes and their role

A
  • Protoplasmic astrocyte
  • Fibrillar astrocyte
  • Metabolic functions and support
101
Q

What type of glial cell develops in the marginal layer?

A
  • Oligodendroglial cell
102
Q

What is the role of oligodendroglial cells?

A
  • Myelin sheath in the ascending and descending axons in the marginal layer
103
Q

What is the role of microglia and how is it formed?

A
  • Highly phagocytic cell

- Formed from vascular mesenchyme when blood vessels grow into the nervous system

104
Q

When are ependymal cells produced?

A
  • When neuroepithelial cells stop producing both neuroblasts and glial cells
105
Q

Where are ependymal cells located and what is their role?

A
  • Central canal of spinal cord

- CSF production

106
Q

When does myelination of peripheral nerves begin?

A
  • Fourth month
107
Q

Which cell type is responsible for myelination in the peripheral nerves?

A
  • Schwann cells
108
Q

How does myelination differ in Schwann cells and oligodendrocytes?

A
  • Oligodendrocytes myelinate up to 50 axons

- Schwann cells myelinate a single axon

109
Q

What is polyhydramnios and how is it detected?

A
  • Feature of exencephaly
  • Foetus lacks swallowing reflex
  • Resulting in an excess of amniotic fluid in amniotic sac
  • Which is detected on ultrasound (absent skull vault)
110
Q

How much CSF is produced each day?

A
  • 400 to 500 mL
111
Q

Outline gender differences in bipolar disorder

A
  • Similar incidence rates in men and women
  • Women have later onset
  • Bipolar II is more common in women
112
Q

Outline attribution theory

A
  • Individuals are motivated to see their social word as predictable and controllable - that is, a need to understand causality.
113
Q

According to attribution theory, identify four criteria that are attributed to causality

A
  • Distinctiveness
  • Consensus
  • Consistency over time
  • Consistency of modality
114
Q

According to attribution theory, outline four dimensions of attributions

A
  • Internal versus external
  • Stable versus unstable
  • Global versus specific
  • Controllable versus uncontrollable
115
Q

What is meant by unrealistic optimism?

A
  • The belief that individuals believe that they are unlikely to get a health problem
116
Q

Identify three causes of unrealistic optimism

A
  • Lack of personal experience with condition
  • Condition is preventable
  • Rarity of condition
117
Q

Outline self-affirmation theory

A
  • People are motivated to protect their sense of self-integrity
  • If presented with information that threatens their sense of self, they behave defensively.
118
Q

Identify the six aspects of health belief model

A
  • Susceptibility
  • Severity
  • Perceived benefits
  • Perceived barriers
  • Cues to action
  • Self efficacy
119
Q

According to social cognition model, what is behaviour governed by?

A
  • Expectancies
  • Incentives
  • Social cognitions
120
Q

How does the Theory of Reasoned Action differ from the Theory of Planned Behaviour

A
  • Theory of Reasoned Action focuses on subjective norms

- Theory of Planned Behaviour focuses on behavioural control

121
Q

According to Protection Motivation Theory, health-related behaviour is influenced by which five components and which type of appraisal does each relate to?

A
  • Severity (threat)
  • Susceptibility (threat)
  • Response effectiveness (coping)
  • Self efficacy (coping)
  • Fear (threat)
122
Q

According to Protection Motivation Theory, people receive information that affects the five components from which two sources?

A
  • Environmental

- Interpersonal

123
Q

Outline Abortion Act 1967

A
  • Pregnancy has not exceeded Week 24
  • Termination requires two practitioners to believe:
  • Mother / existing children physical or mental health at risk
  • Pregnancy will result in permanent injury to the mother
  • Child born with serious mental or physical abnormalities
124
Q

Outline how capacity differs in 17 year olds to 13 year olds.

A
  • Age 16 and 17 presumed to have capacity unless proven otherwise
  • Age 14 and 15 presumed not to have capacity unless they meet Gillick competency criteria
  • Age 13 or less unlikely to be Gillick competent
125
Q

What should doctors do if child is not competent and parents refuse treatment.

A
  • Consult courts if in best interests

- If in an emergency, act to save the child from death or serious harm.

126
Q

Outline Gillick Competency

A
  • Child is considered Gillick competent if:
  • They are mature enough to understand the the nature, purpose, benefits and risk of treatment
  • They can retain and use this information to communicate their decision.
127
Q

Outline Fraser Guidelines

A
  • Doctor should give advice to children with regards to sexual health if:
  • Child is GIllick competent
  • They cannot persuade the child to involve parents
  • Physical or mental health would otherwise suffer (contraception is in best interests)
128
Q

When may a doctor break confidentiality of a minor?

A
  • Where health, safety or welfare of some person would otherwise be at serious risk.
  • In cases of sexual activity involving children under 13, who are considered in law to be unable to give consent.
129
Q

Outline how a patient is referred to an NHS specialist

A
  • Referral, with letter, from GP
  • If GP believes specialist referral is necessary
  • Patient can choose the hospital under the NHS Choose and Book Scheme
130
Q

What is clinical appraisal?

A
  • Systematic examination of research to judge its validity, results and clinical relevance
131
Q

Identify six components used as part of the critical appraisal checklist

A
  • Originality
  • Participants
  • Study design
  • Bias
  • Blind
  • Statistical questions
132
Q

What is Critical Appraisal Skills Programme (CASP)?

A
  • Provides critical appraisal checklists

- Designed to help one think about aspects of appraisal systematically

133
Q

Which critical appraisal technique focuses on randomised control trials?

A
  • CONSORT
134
Q

Which critical appraisal technique focuses on cohort studies?

A
  • STROBE
135
Q

What is the purpose of systems used to rank or grade evidence?

A
  • To guide users of clinical research about which studies are most likely to be most valid
136
Q

Identify two systems used to grade or rank the quality of evidence

A
  • GRADE

- SIGN