S3C1 (2.0) Flashcards

(144 cards)

1
Q

Can a parent override consent for an abortion on a minor?

A

The courts have also confirmed that a parent’s refusal to give consent for an abortion cannot override the consent of a competent young person.

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2
Q

Can a minor consent to an abortion?

A

As with other medical interventions, a competent young person may give valid consent to abortion, contraception and treatment for a sexually transmitted infection, regardless of age or parental involvement, although every reasonable effort must be made to persuade the child to involve their parents or guardians.

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3
Q

When do NTDs develop?

A

3rd and 4th week of pregnancy

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4
Q

What is a common cause of NTDS?

A

Folate deficiency

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5
Q

Define the term NTD

A

Neural tube defects are a group of congenital malformations of the brain and spinal cord.
They are caused by improper closure of the neural plate in the embryo, resulting in malformations of the central nervous system (CNS), spine, and cranium.

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6
Q

What is the aetiology of NTDs?

A

Maternal folic acid deficiency during pregnancy; disorders or drug intake affecting folate metabolism
Concomitant chromosomal aberrations (e.g., trisomy 13 and 18); genetic mutations in the folate and homocysteine metabolism pathways
Associated maternal conditions: diabetes mellitus, obesity, fever/hyperthermia during first trimester

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7
Q

Define Spina Bifida Occulta

A

Failure of one or more vertebrae to close completely; the spinal cord, spinal meninges, and overlying skin remain intact

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8
Q

Define Spina Bifida Cystica

A

Failure of one or more vertebrae to close completely; the meninges (meningocele) and potentially the spinal cord (myelomeningocele) may protrude through the gap

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9
Q

What part of the spine is affected by spina bifids?

A

Primarily in the lower lumbar to sacral region

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10
Q

What are the symptoms of spina bifida occulta?

A

usually asymptomatic
possibly visible dimple
collection of fat
patch of hair on the skin above the defect

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11
Q

What are the symptoms of spina bifida cystica?

A

Symptoms of spinal cord dysfunction
Varying degrees of motor loss, possible flaccid paralysis
Sensory deficits
Bladder and bowel dysfunction
Further symptoms
Developmental delays, cognitive impairment, progressive neurological symptoms
Skeletal malformations (esp. of the spine and lower extremities), joint contractures, back pain
Hydrocephalus

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12
Q

What is a cranial defect?

A

Cranial cleft formation with involvement of the skull and brain

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13
Q

What is acrania?

A

Absent skull bones

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14
Q

What is anencephaly?

A

Variable presentations of diminished cranium and forebrain, as well as cerebellum

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15
Q

What is Encephalocele?

A

Protrusion of the brain via an opening in the skull

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16
Q

What is a cranial meningocele?

A

Protrusion of meninges through parietal foramina or abnormal bony openings of the skull

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17
Q

What is a congenital dermal sinus?

A

Mainly lumbar or lumbosacral fistulae; extend from the surface of the skin to the spinal canal and frequently end in a dermoid or epidermoid cyst

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18
Q

What prenatal screening can be done to diagnose NTDs?

A

Elevated levels of alpha-fetoprotein (AFP) in amniotic fluid at 13–15 weeks’ gestation
Fetal ultrasonography at 20 weeks’ gestation

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19
Q

What does a triple screen blood test look for?

A

Elevated AFP, which is associated with NTDs. It also measures hCG and unconjugated estriol. Done in the second trimester

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20
Q

What does an amniotic fluid test look for?

A

Looking for high levels of AFP and acetylcholinesterase. Can tested for chromosomal abnormalities which would explain high AFP

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21
Q

What is AFP?

A

A protein produced in the liver of a developing foetus. Some AFP passes through the placenta and into the mothers blood and too much or too little can indicate an issue in pregnancy

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22
Q

When would AFP testing be especially recommended?

A

Have a history of birth defects
35 or above
Diabetes

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23
Q

What is the treatment plan for spina bifida?

A

The baby is usually delivered by caesarean section - No clear evidence that this improves outcome
Prophylactic administration of broad-spectrum antibiotics
Surgical closure within 72 hours after birth ; close monitoring and possibly elective surgery for closed defects
Placement of a ventriculoperitoneal shunt in cases of hydrocephalus

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24
Q

Why does the surgery need to be done asap for spina bifida?

A

Along with administering antibiotics, considerably reduces risk of CNS infection

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25
How can spina bifida be prevented?
Folic acid supplementation | Intake should continue through the first trimester.
26
How much folate should a woman consume prior to pregnancy?
400–800 μg/day at least 4 weeks prior to a planned pregnancy
27
How much can folic acid supplementation help?
Reduce incidence by <70%
28
How do the guidelines change for folic acid supplementation for a woman with an NTD or had a child previously with an NTD?
Women who have had a child with an NTD or have one themselves should take 4 mg/day starting 4 weeks prior to trying to conceive.
29
How are splotch NTDs prevented?
Exogenous folic acid
30
How are cranial NTDS exacerbated?
Folate deficiency
31
What is the lemon sign?
Scalloping of the frontal bones
32
What is the banana sign?
The shape of the cerebellum owing to caudal displacement
33
What causes the lemon sign?
Decrease in intraspinal pressure causes the brain to shift downwards Decreases intracranial pressure Pulls frontal bones in
34
When can't the lemon sign be seen any more? Why?
Lemon sign only present up to 24 weeks | Frontal bones become firm and pressure changes
35
What can reverse the lemon sign?
Increase in pressure | Development of hydrocephalus can cause this
36
What are the Chiari malformations?
Congenital disorder which distortion of the base of the skull with protrusion of the lower brainstem and parts of cerebellum through the foramen magnum
37
What are the 4 types of Chiari malformation?
Type 1 Can be acquired Characteristic of headaches Type 2 Associated with lumbosacral myelomeningocele Paralysis below spinal defect Type 3 Consists of a downward displacement of cerebellum into a posterior encephalocele Exceedingly rare and generally incompatible with life Type 4 Form of cerebellar hypoplasia
38
How many babies with Spina bifida also have hydrocephalus?
50%
39
What is the epidemiology of BPD?
General population = 1-3% First-degree relative with bipolar disorder = <10% Monozygotic twin = 40-70%
40
What is the aetiology of BPD?
``` Strong genetic influence Increased risk if present in first degree relative Increased paternal age Increased mutations during spermatogenesis Increased risk of bipolar Psychosocial factors Childhood traumatic experiences Sexual abuse Stress Changes in life situation ```
41
How is BPD type 1 defined?
One or more manic episodes (lasting >= 1 week) with or without a major depressive episode
42
How is BPD type 2 defined?
One episode of hypomania and one major depressive episode, no episodes of mania
43
What is rapid cycling?
At least 4 manic/hypomanic episodes or major depressive episodes per year
44
What are the types of rapid cycling?
Rapid cycling: at least 4 bipolar mood episodes per year Ultra-rapid cycling: at least 4 bi-polar mood episodes per month Ultradian cycling: alternating bipolar episodes within 1 day on at least 4 days a week
45
What is cyclothymia?
Persistent hypomanic/depressive mood swings over the course of 2 years, which are not sufficiently severe to justify diagnosis of BPD
46
What are the characteristics of cyclothymia?
A persistent instability of moos involving numerous periods of depression that alternates with hypomania Symptoms are not sufficiently sever of persistent enough to diagnose bipolar disorder
47
What is substance-induced bipolar? What can cause it?
Manic or depressive episodes that occur shortly after using certain substances ``` Alcohol Phencyclidine Amphetamines Cocaine Benzodiazepines ```
48
Define a manic episode
Abnormally elevated, expansive, or irritable mood and increased goal-directed behaviour that lasts most of the day for at least 1 week Significant dysfunction in life, Patient may require hospitalisation - risk to self or others
49
What symptoms can be present in manic or hypomanic episodes?
Increased goal-directed activity (sexually, at work and/or socially) Increased talkativeness Flight of ideas and racing thoughts Loss of social inhibitions - socially inappropriate behaviour, aggressiveness and hostility Decreased need for sleep Overconfidence Easily distracted
50
Define a hypomanic episode
○ Abnormally elevated, expansive or irritable mood and increased goal-directed behaviour that lasts most of the day for min 4 consecutive days Doesn't result in significant dysfunction or hospitalisation Symptoms are recognisable by others Changes in function that are not characteristic of the individual
51
What symptoms can be present in a major depressive episode?
``` Depressed mood Sleep disturbance Loss of interest or anhedonia Feelings of worthlessness or guilt Fatigue Diminished concentration, ability to think or make decisions Weight change Psychomotor changes Suicidal ideation ```
52
How would you diagnose a major depressive episode?
○ >=5 symptoms for atleast 2 weeks, with one of the symptoms being depressed or anhedonia Clinically significant distress or impaired functioning in important areas of life Not due to psychoactive substances
53
What is the goal of acute treatment for mania and hypomania?
The goal of acute treatment is resolution of mania and psychosis General principles: Reduction of external stimuli Assessment for possible offending substances Limit access to cars, bank, cell phones
54
What medication is given for mania and hypomania for acute treatment?
``` Antipsychotics Haloperidol, Olanzapine, risperidone Preferred initial therapy in agitated patients due to fast onset of action Benzodiazepines Lithium Anticonvulsive drugs ```
55
What is the goal of long term treatment for BPD?
The goal of maintenance therapy is to prevent future manic episodes
56
What is the duration of long term BPD treatment?
Every patient should be started on maintenance therapy after their first manic episode Treat for at least a year following an acute manic episode Patients who experience 2 or more episodes should be considered for long-term or lifetime therapy
57
What is the first line of medication for long term BPD treatment?
Mood stabilizers | e.g Valproic acid or Lithium
58
What is the medication given for long term treatment for severe BPD
Combination | Lithium or valproic acid and atypical antipsychotic
59
What is the medication given for long term treatment for predomiantly depressive BPD?
Antidepressants may be started after initiating mood stabilisers Should not be used before initiating therapy with mood stabilisers
60
What is the MOA of lithium?
Lithium's therapeutic action may be due to a number of effects, ranging from inhibition of enzymes such as glycogen synthase kinase 3, inositol phosphatases, or modulation of glutamate receptors.
61
What should you do if a mother is breast feeding and on lithium?
Breastfeeding is not recommended with maternal lithium use but if it is continued, the infant should be monitored for thyroid function and symptoms of lithium toxicity such as hypertonia, hypothermia, cyanosis, and ECG changes
62
What is valproic acid indicated for?
Monotherapy or adjunctive therapy in seizures Prophylaxis of migraine headaches Acute management of mania
63
What is the MOA of valproic acid?
Inhibit succinic semialdehyde dehydrogenase. This inhibition results in an increase in succinic semialdehyde which acts as an inhibitor of GABA transaminase ultimately reducing GABA metabolism and increasing GABAergic neurotransmission. As GABA is an inhibitory neurotransmitter, this increase results in increased inhibitory activity. Also inactivates Na+ channels
64
What are the side effects of valproic acid?
``` GI discomfort Heaptotoxicity Tremor Sedations Ataxia Pancreatis Skin rash ```
65
What is the MOA of benzodiazepines?
Enhance the effect of GABA at the GABA-A receptor resulting in sedative, hypnotic, anti-anxiety, anti-convulsant and muscle relaxant properties
66
What is the MOA of risperidone?
Inhibit the D2 dopaminergic receptors and 5-HT2A serotonergic receptors in the brain
67
How does sodium valproate affect folate levels?
sodium valproate adversely alters folate metabolism and some of the intermediate metabolites of valproate may be responsible for the teratogenic effects. Low folate levels or intermediate metabolites are then thought to disrupt gene expression, increase embryonic oxidative stress and induce changes in protein synthesis.
68
What is the notochord?
A dorsal midline structure derived from mesoderm that arises during the 3rd week of gestation (trilaminar disc). It secretes sonic hedgehog (SHH), a signalling protein that activates cellular differentiation and neurulation.
69
What is the process of notogenesis?
Epiblast cells migrate from the primitive nodes and extend cranially to form the notochordal process. The Notochordal process margins converge until they merge into the rod-shaped notochord at the end of week 4 The notochord migrates along the primitive streak (the future craniocaudal axis), and ends at the prechordal plate. It is part of the axial mesoderm
70
When does notogenesis take place?
Weeks 3-4
71
What is notogenesis?
Development of the notochord, a rod-like structure between the ectoderm and endoderm that is essential for the development of the nervous system and primitive skeletal structures
72
What is neurulation?
The formation of the neural tube and neural crests via neural plate folding During this process, the surface ectoderm is also formed which gives rise to the epidermis
73
How is the neural plate formed?
The notochord secretes signalling molecules that trigger differentiation of the medial ectoderm (above the notochord) into neural cells
74
What is the sequence for neurulation?
The central area of the neural plate decreases (invagination) and becomes the neural groove The neural folds are found on both longitudinal sides of the neural groove The neural folds converge at week 3 and convert the neural groove into the neural tube
75
When does the anterior neuropore close?
Day 24-25
76
When does the posterior neuropore close?
Day 26-27
77
What does neural fold fusion lead to?
Neural fold fusion leads to several cells dissociating from the epithelial cluster which deposit between the neural tube and surface ectoderm as the neural crest cells
78
What is the remnants of the notochord?
the nuclei pulposi of the intervertebral discs are remnants of the notochord as the notochord degenerates during the course of embryogenesis
79
What is the derivatives of the neural tube?
CNS and retina
80
What does the neural crest differentiate into?
Different cell types Neurons Dorsal root ganglia Glia of PNS
81
What does the surface ectoderm become?
Epidermis
82
What happens once the anterior neuropore closes?
The cephalic end of the neural tube begins to form three swellings bilaterally - called primary vesicles
83
What are the 3 primary vesicles (superior to inferior)?
Prosencephalon Mesencephalon Rhombencephalon
84
What are the 2 flexures formed in the neural tube
The cervical flexure at the junction between the hindbrain and the spinal cord The cephalic/pontine flexure which is the first bend of the embryonic brain in the mesencephalon region
85
What does the prosencephalon develop into?
Telencephalon | Diencephalon
86
What structures does the telencephalon develop into?
Rapidly growing Dorsal territory gives rise to the cerebrum and hippocampus Ventral territory gives ride to basal ganglia, basal forebrain nuclei and olfactory bulb Forms the 4 lobes of the brain
87
What structures does the diencephalon develop into?
``` Slow growing Forms: Thalamus hypothalamus epithalamus subthalamus Uvea (choroid, iris, ciliary body) Retina ```
88
What does the mesencephalon develop into?
Doesnt develop further | Forms Midbrain
89
What does the rhombencephalon develop into?
Metencephalon | Myelencephalon
90
What structures does the metencephalon develop into?
Posterior aspect develops into cerebellum | Anterior aspect forms the pons
91
What structures does the myelencephalon develop into?
Medulla Oblongata
92
What controls the process of segmentation of the vesicles?
Hox genes
93
What forms the mantle layer?
○ The wall of a recently closed neural tube consists of neuroepithelial cells. Once the tube closes, neuroepithelial cells begin to give rise to neuroblasts.
94
What does the mantle layer form?
This later forms the grey matter of the spinal cord
95
What happens at the caudal end of the neural tube?
The neuroblasts proliferate outwards Postero-laterally to form the Alar plates - Dorsal horns Antero-laterally to form the Basal plates - Ventral horns
96
What separates the ventral and dorsal areas of the neural tube?
Sulcus limitans
97
What do neuroblast in the outer region of basal plates develop?
``` Nerve fibres (processes) that extend out to the peripheries, forming the motor nerves These are motor roots ```
98
What forms the dorsal root ganglion?
○ Some neural crest cells that migrated outwards to the peripheries will proliferate to form the dorsal root ganglion. They will develop nerve fibres that extend to the peripheries and fibres that will extend into the outer region of the alar plate
99
What does the marginal layer contain?
The outmost layer of the spinal cord, the marginal layer, contains nerve fibres emerging from neuroblasts in the mantle layer As a result of myelination, this forms the white matter of the spinal cord
100
What is the DV axis made by?
TGF-β family of proteins and SHH
101
How is the DV axis initiated?
Initially bone morphogenetics protein 4 and 7 are secreted by the ectoderm overlying the neural tube, and the presence of these proteins establish a second signalling centre in the roof plate BMP4 in the roof plate induces a cascade of TGF-β proteins, including BMP5, BMP7, activin and dorsalin Similar events occur with SHH ventrally
102
What does SHH bind to?
receptor encoded by PTCH1 gene
103
Where is SHH first expressed?
In the notochord followed by the establishment of a second signalling centre
104
What are the morphogens at the caudal and cephalic ends of the AP axis?
Caudal - FGF | Cephalic - Retinoic acid
105
Where does the pons develop from?
Anterior aspect of metencephalon
106
What part of the pons is sensory? What part is motor?
The centre of the pons in motor, and the lateral is sensory
107
What is derived from neural crest cells?
``` Melanocytes Leptomeninges Sensory/ autonomic ganglia Schwann cells Neurocranium bones Adrenal Medulla Para-follicular cells of thyroid Odontoblasts ```
108
What gives rise to melanocytes?
Neural crest cells that are spread out underneath the ectoderm
109
What gives rise to arachnoid and pia mater (leptomeninges)?
Neural crest cells that are plastered around the entire neural tube and derivative structures
110
What forms the sensory and autonomic ganglia?
Some neural crest cells made aggregates throughout the length of the nervous system
111
How is the adrenal medulla formed?
Sympathetic ganglia combine to form glands that have lost their axons so they don't innervate directly to the tissue, but instead secrete their neurotransmitters directly into the blood.
112
How does neuronal migration happen in the CNS?
Neuroblasts use the long processes of radial glia as scaffolds, traveling along radial glial fibres in order to reach their final destinations A minority of cells in the CNS use existing axon pathways as migratory guides
113
How does neuronal migration happen in the PNS?
The neural crest arises from the dorsal neural tube along the entire length of the spinal cord and hindbrain As neural crest cells begin to migrate, they carry information about their point of origin, including expression of distinct Hox genes that are limited to various domains Neural crest cells are largely guided along distinct migratory pathways provided by non-neural peripheral structures like somites
114
Describe the transition all neural crest cells undergo before migration in PNS
They begin as neuroepithelial cells, and thus have all of the cellular junctions and adhesive interaction that keep epithelial cells in place To move, they must downregulate expression of these adhesive genes and undergo an epithelial to mesenchymal transition Thus, presumptive neural crest cells express several transcription factors including bHLH family members Snail1 and Snail2, which repress expression of intercellular junctional proteins and epithelial adhesion molecules When the motile cells reach their final destination, they cease Snail1/Snail2 (+others that favour mesenchymal migration) expression
115
Where are the precursor cells for glia/neurons found?
Located in the ventricular zone - the innermost layer surrounding the lumen of the neural tube
116
How are neuroblasts generated?
Generated from cells that divide asymmetrically - one of the two daughters becomes a post-mitotic neuroblasts while the other re-enters the cell cycle to give rise to another post-mitotic progeny via asymmetric division
117
What are the differences between asymmetrical and symmetrical division?
These asymmetrically dividing progenitors divide more rapidly, have a limited capacity for division overtime, and are molecularly distinct from the slowly dividing precursors New stem cells are from symmetrical divisions of neuroectodermal cells, these cells divide relatively slowly and can renew themselves indefinitely
118
What are asymmetrically dividing progenitors also known as?
Transit amplifying cells
119
What are glia?
The connective tissue of the nervous system, consisting of several different types of cell associated with neurons
120
What is the ratio of glia:neurons?
3:1
121
What are the roles of glia in the NS?
Maintaining the ionic milieu of nerve cells Modulating the rate of nerve signal propagation Modulating synaptic action by controlling the uptake of neurotransmitters at or near the synaptic cleft Providing a scaffold for some aspects of neural development Aiding recovery from neuronal injury
122
What are the 3 types of glia in the CNS?
Astrocytes Oligodendrocytes Microglial cells
123
What are astrocytes?
These are restricted to brain and spinal cord Elaborate local processes that give a star-like appearance Major function is to maintain an appropriate chemical environment for neuronal signalling and maintain the BBB
124
What are oligodendrocytes?
These are restricted to CNS | Lay down a laminated, lipid-rich wrapping (myelin) around some axons
125
What are microglial cells?
Primarily scavenger cells that remove cellular debris from sites of injury Secrete signalling molecules - particularly cytokines - that modulate local inflammation and influence cell survival or death
126
What is the Gillick test?
1983 It was determined that children under 16 can consent if they have sufficient understanding and intelligence to fully understand what is involved in a proposed treatment, including its purpose, nature, likely effects and risks, chances of success and the availability of other options
127
What are the Fraser guidelines?
They have sufficient maturity and intelligence to understand the nature and implications of the proposed treatment (capacity) They cannot be persuaded to tell their parents or to allow the doctor to tell them They are very likely to begin or continue having sexual intercourse with or without contraceptive treatment Their physical or mental health is likely to suffer unless they received the advice or treatment The advice or treatment is in the young person's best interests
128
What is the law regarding 16-17 year olds and consent?
Governed by the family law reform act 1969 Presumed to have capacity to give consent to medical procedures unless the contrary is shown If they have the capacity, they can give consent If the patient refuses consent then those with parental responsibility, or a court, can give consent to treatment that is in the child’s best interest.
129
What is the law regarding Gillick competent under 16 year olds and consent?
Children under 16 years old are presumed not to have capacity to consent unless they satisfy health professionals that they do have such capacity However, the common law case of Gillick established that a child aged less than 16 years who does have the capacity can give consent for medical treatment Unlikely <13 would be competent If the patient refuses consent then those with parental responsibility, or a court, can give consent to treatment that is in the child’s best interest.
130
What is the law regarding non-Gillick competent under 16 year olds and consent?
At least one person with parental responsibility should normally give consent Those with parental responsibility are under a legal obligation to act in the child’s best interests If all those with parental responsibility refuse consent for a procedure that the doctors think is strongly in the child’s best interests, then the doctors should involve the courts (specific issue order). In an emergency, if parental consent is not forthcoming and there is no time to involve the courts, act to save the child from death or serious harm
131
What is the law regarding confidentiality with minors?
The duty of confidentiality owed to a person under 16 is as great as the duty owed to any other person. An explicit request by a patient that information should not be disclosed to particular people, or indeed to any third party, must be respected except in the most exceptional circumstances, for example, where the health, safety or welfare of some person would otherwise be at serious risk. The exceptions set out above, where the child is a ward of court, or is in care, should be noted
132
What are the provisions in the mental capacity act which do not apply to 16-17 year olds?
They cannot make a Lasting Power of Attorney (LPA) They cannot make an advance decision to refuse medical treatment The Court of Protection cannot make a statutory will.
133
Who is legally entitled to give consent to a medical treatment of a young person?
A competent child or young person A parent or other person or agency with parental responsibility where the decision is in the best interests of the child A court An appointed proxy - in Scotland where the patient is over 16 and unable to make decisions for themselves A person caring for a child, for example a grandparent or child minder, may do what is reasonable in the circumstances to safeguard or promote the child’s welfare
134
When should you share information about sexual activity of a minor?
Too immature/young to consent Big age difference Partner in position of trust Force/threat of force/emotional or psychological pressure, bribery or payment Drugs or alcohol used to influence young person Partner known to police or child protection agencies
135
What are the determinants of capacity?
The ability to understand that there is a choice and that choices have consequences The ability to weigh the information and arrive at a decision A willingness to make a choice (including the choice that someone else should make the decision) An understanding of the nature and purpose of the proposed intervention An understanding of the proposed intervention’s risks and side effects An understanding of the alternatives to the proposed intervention, and the risks attached to them Freedom from undue pressure
136
What are the different types of synaptic connection?
Axodendeitic Axosomatic Axoaxonic
137
What is the average membrane potential at rest?
-60mV
138
How can changes to membrane potentials happen?
Induced by synaptic input to dendrites/soma Made more positive by excitatory post-synaptic potential Made more negative by inhibitory post-synaptic potential
139
What is the golgi tendon organ?
A muscle proprioceptor at the junction of tendons and muscle fibres Lie in series with the muscle fibres Respond to force by isometric contractions Work by activating inhibitory interneurones to relax muscles immediately
140
How does folding of the neural plate occur?
Median hinge point forms Columnar cells adopt triangular morphology Lateral hinge point forms As neural folds close, neural crest delaminates and migrates away Closure happens first in the middle of tube and then zips rostrally and caudally
141
What do somites give rise to?
Segmented body structures
142
What morphogens interact and split the brain hemispheres?
SHH and FGF
143
What is apical polarity specified by?
Apical Par complex proteins | Par3, Par6 and aPKC
144
What is the primary cilium?
Consists of a microtubule based axoneme and the basal body | Detects SHH