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Genetics > The final final things you are getting wrong > Flashcards

The final final things you are getting wrong Flashcards

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1
Q

Lesch Nyan
What is the inheritance?
Give three features.

A

X-Linked recessive.
Self-inflicted harm
Writhing movement
Dystonia

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2
Q

Tay Sachs

Inheritance?

A

Autosomal recessive

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3
Q

In both PD and PSP there are ? (3)

What is the state of the locus coreleus in (i) MSA, (ii) PSP, (III) PD

A

In both PD and PSP:

  • Atrophy SN
  • Midbrain atrophy
  • Discoloured dentate nucleus
  • Atrophy cerebellar peduncles

Locus correleus
Spared in PSP
Atrophy in PD
WRONG - it is the PUTAMEN which is green and atrophied in MSA

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4
Q

The four Link and Phalen Stigma Phases

A

Label
Stereotype
Separate
Status loss

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5
Q

What are deja vu and cryptomnesia examples of?
And PTSD memories?
And losing car keys?
Tip of the tongue

A

Misattribution
They are persistence memories (despite being unwanteD)
Absent-mindedness
Tip of the tongue - blocking

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6
Q

Gestalt and psychologists

A

Due to the work of Wilhem Wundt (so NOT a Gastalt Psychologist)
The psychologists were: Wertheimer, Koffka, Kohler

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7
Q

Who came up with term consequentialism

A

Anscombe

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8
Q

When does holophrastic speech happeN? what does it mean?

Same for telegraphic

A

Holophrastic = simple words with meaning. Happens 12-18 months
Goes onto telegraphic in 18-24 months; combining words (more play)

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9
Q

ADHD vs Autism genetics

A

ADHD:
Overall heritability 74%
Siblings 2-3x risk controls
2/3 continue into adulthood

Autism:
Heritability generally around 90%
Monozygotic vs dizygotic 34 vs 76%
siblings 50-100x more likely to develop

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10
Q

Huntingdons

Chromosome and which arm?

A

chromosome 4.

short arm

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11
Q

Frequency of the aneuploidy conditions

A 
Trisomy 21 (Down's syndrome) - 1 in 800 births
Trisomy 18 (Edwards syndrome) - 1 in 6000 births
Trisomy 13 (Patau syndrome) - 1 in 10,000 births
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12
Q

Name the tau-opathies

A

Alzheimer’s
Pick’s (frontotemporal dementia)
Progressive supranuclear palsy
Cortiocobasal degeneration

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13
Q

What chromosome is associated with Notch 3 (CADASIL)

What else is on that chromosome

A

19

19 also implicated in APOE

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14
Q 
What chromosome affected in:
A.	Downs syndrome
B.	Lesch-Nyhan syndrome
C.	Fragile X syndrome
D.	Williams syndrome
E.	Di George syndrome
F.	Turner syndrome
G.	Coffin-Lowry syndrome
H.	Cri du chat
I.	Smith magenis syndrome
J.	Prader-Willi
K. Niemann Pick disease (types A and B)
A 
Downs - Trisomy 21
Lesch-Nyhan - X Linked Recessive
Fragile X - X Linked Dominant
Williams - Chromosome 7
Di George - 22
Turner- XO
Coffin-Lowry: Xp22
Cri du chat- 5p deletion
Smith magenis - 17p11
Prader-Willi - 15q11 deletion (autosomal dominant)
Neiman Pick - 11p15
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15
Q

The functions of the genes implicated in schizophrenia

A

COMT: It plays a major role in the degradation of catecholamines including the neurotransmitters dopamine, epinephrine, and norepinephrin. Clearing dopamine from synapses is a major effect of COMT.

Neuregulin 1 (NRG1) is a growth factor that stimulates neuron development and differentiation

Dysbindin: Dystrobrevin-binding Protein 1 (DTNBP1, dysbindin) is widely distributed in muscle and brain tissue, and is involved in the biogenesis of lysosome-related organelles.

DISC1: DISC1 encodes a multifunctional protein that influences neuronal development and adult brain function, including neurite architecture, neuronal migration, intracellular transport and synaptic transmission.

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16
Q

Pattern of inheritance for:

  • Noonans
  • Hunters
  • Hurlers
  • Cerebellar ataxia
  • Lesch-Nyan
  • Fredreichs ataxia
A 
Noonans: autosomal dominant
Hunters: x linked recessive
Hurlers: autosomal recessive 
Cerebellar ataxia: X linked recessive
Lesch-Nyan: X Linked recessive 
Fredreichs ataxia; Autosomal recessive
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17
Q

Three stop codons

A

TAA, TAG, or TGA

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18
Q

What are the stages of Erikson’s stages of psychosocial development?

A

Trust vs. mistrust 0-1 year Hope
Autonomy vs. shame 1-3 years Will
Initiative vs. guilt 3-5 years Purpose
Industry vs. inferiority 5-12 years Competence
Identity vs. role confusion 12-19 years Fidelity
Intimacy vs. isolation 19-35 years Love
Generativity vs. stagnation 35-65 years Care
Integrity vs. despair 65 and onwards Wisdom

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19
Q

Dyslexia genes

A

DYX1C1
DCDC2
KIAA0319
Chromosome 6

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20
Q

Worst drugs to cause priapism

A

Chlorpromazine
Trazodone
Thiordazine

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21
Q

Neimann Pick
vs
Lesch-Nyan

Study These Flashcards
A

Neimann Pick
Chromosome 11
A–> E types
Syringomyelinase deficiency
In A + B, cherry red spot, abdo swelling, feeding problems
Later types associated with organomegaly, ataxia/tremor, supranuclear gaze palsy, learning disability
In ABCE, there is deficiency syringomyelinase
In D, it is an interference of movement of cholesterol between brain cells, a variant of C

Lesch-Nyan:
X-linked recessive
Self injury, hypotonia, dystonia
Hypoxanthine phosphoribosyltransferase 1 deficiency

22
Q

In anorexia…
Laxative use leads to
Vomiting

Study These Flashcards
A

Hypokalaemia
Excess vomiting leads to hyperphosphataemia and metabolic alkalosis, with low K *in bulimia, but not others, hyperphosphataemia is seen

23
Q 
Do you know the function of hypothalamic nuclei:
Suprachiasmatic	
Preoptic	
Paraventricular	
Anterior
Posterior	
Supraoptic
Arcuate	
Dorsomedial	
Ventromedial
Lateral	
Dorsomedial
Study These Flashcards
A

Suprachiasmatic Circadian rhythm
Preoptic Secretes GnRH to stimulate LH and FSH in the anterior pituitary
Regulates body temperature
Paraventricular Synthesizes oxytocin
Anterior Regulates parasympathetics to keep cool
Posterior Regulates sympathetics to keep warm
Supraoptic Synthesizes ADH
Arcuate Releases dopamine
GHRH to anterior pituitary
Hunger & satiety
Dorsomedial Stimulate gastrointestinal system, hunger
Ventromedial Satiety
Lateral Hunger and thirst
Dorsomedial Triggers shivering

24
Q

Which system is the amygdala part of?

Give four functions

Study These Flashcards
A 
Limbic
Fight or flight/autonomic responses
Fear
Eating 
Aggression
25
What are microglia? | What are they sensitive to?
Microglia are the macrophages of the CNS and spinal cord, they do not produce myelin. They are very sensitive to changes in extracellular potassium and use this to detect foreign matter.
26
What side of which hemisphere is related to disinhibition?
Right frontal lobe
27
How does glycine make its inhibitory function?
Glycine binds to a receptor which makes the post-synaptic membrane more permeable to Cl- ion.
28
What is Russell's sign
scarring on knuckles and back of hand, indicates repeated induced vomiting
29
The mesolimbic pathway goes from where to where? | It is involved in what?
From VTE in midbrain to nucleus accumbens | Invovled in reward
30
What are the earliest changes seen in Alzeimers? (macroscopically)
The earliest neuropathological changes occur in the medial temporal lobe, which includes the hippocampus and parahippocampal gyrus. Answer: atrohpy of hippocampus
31
What is also known as intrinsic activity? What is the other term here?
Potency the concentration or dose of a drug required to produce 50% of the drug's maximal effect. Potency depends on both the affinity of a drug for its receptor, and the efficiency with which drug-receptor interaction is coupled to response Efficacy also referred to as 'intrinsic activity' of a drug is the ability of the drug to elicit a response when it binds to the receptor
32
What are the parts of the Papez Circuit?
Papez suggested that information about emotion passes through the hippocampus, the mamillary bodies of the hypothalamus, the anterior nucleus of the thalamus, the cingular cortex, the entorhinal cortex and, finally, through the hippocampus again thus forming a circuit. ``` So that is: Hippocampus Mamillary bodies of hypothalamus Thalamus Cingular cortex entorhinal cortex Hippocampus again ```
33
Middle meningeal artery goes through?
SPINOSUM
34
What side is the planum temporale more prominent on ? In which gender is this the more case ? What conditions is there LESS asymmetry?
More prominent on LEFT More so in males Three conditions: dyslexia, stuttering, schizophrenia
35
Brain derived neurotrophic factor significance
An increase of Brain-derived neurotrophic factor (BDNF) concentrations in cortical areas and a decrease of BDNF in the hippocampus of patients with schizophrenia has been observed (compared to controls).
36
Verocay bodies Zebra bodies Schaumann bodies Asteroid bodies
Verocay -Schwannoma (Neurilemoma) Zebra - Neimann Pick, Tay Sachs Schuamann - Sarcoid Asteroid - Sarcoid
37
What three four does somatostatin suppress
On the stomach (thus a paracrine effect) it inhibits the release of gastrin and hydrochloric acid On the duodenum it inhibits the release of secretin and cholecystokinin On the pancreas it inhibits the release of glucagon Suppresses growth hormone relase NOTE IT DOES NOT SUPPRESS HUNGER. IN FACt, THE ONE THAT SUPPRESSES HUNGER IS CCK (AS WELL AS RELEASING BILE)
38
What kind of hemianopia is made from - MCA lesion ? - PCA lesion ?
MCA Lesion: Homomymous hemianopia or quadrantanopia | PCA Lesion: CL hemianopia
39
Changes seen in MND Macro Micro
Macroscopic pathological features include:- Precentral gyrus atrophy Frontotemporal atrophy Thinning of spinal cord Atrophic anterior nerve roots Microscopic changes include:- Loss of motor neurones from the ventral horn of the spinal cord Loss of motor neurones from the lower brainstem
40
Boston Naming Test tests....
Language
41
Prosopagnosia What gyrus What part of brain
Gyrus = fusiform | Part of brain = temporal lobe
42
Brown Sequard findings
1. Ipsilateral spastic paresis below lesion 2. Ipsilateral loss of proprioception and vibration sensation 3. Contralateral loss of pain and temperature sensation
43
An example includes the initial HIV test | An example includes the confirmatory HIV test
ELISA | WEstern Blotting
44
What part of brain were ventricles derived from
Lateral ventricles - diencephalon (part of prosencephalon) Third ventricle - telencephalon (part of prosencephalon) Aqueduct - mesencephalon superior part of fourth ventricle - metencephalon inferior part of fourth ventricle - myelencephalon
45
``` Cafe au lait spots Groin/axillary freckles Lisch nodules Bilateral acoustic neuromas Epilepsy Ash leaf spots Subungal fibromata ```
``` Cafe au lait spots - tuberous sclerosis (and NF) Groin/axillary freckles - NF Lisch nodules - nF Bilateral acoustic neuromas - NF2 Epilepsy - TS Ash leaf spots - TS Subungal fibromata - TS ```
46
What do you get with damage to anterior inferior cerebellar artery
sudden onset vertigo and vomiting, ipsilateral facial paralysis and deafness
47
difference between duchennes and beckers
Duchenne muscular dystrophy onset < 5 years old, pseudohypertrophy of calf muscles, trouble standing from sitting, learning disability, dilated cardiomyopathy Becker muscular dystrophy onset > 10 years old, pseudohypertrophy of calf muscles, trouble standing from sitting, no learning disability
48
what type of tumour occurs at cerebellopontine angle
Acoustic neuromas (more correctly called vestibular schwannomas) account for approximately five percent of intracranial tumours and 90 percent of cerebellopontine angle Features can be predicted by the affected cranial nerves cranial nerve VIII: hearing loss, vertigo, tinnitus cranial nerve V: absent corneal reflex cranial nerve VII: facial palsy Bilateral acoustic neuromas are seen in neurofibromatosis type 2 MRI of the cerebellopontine angle is the investigation of choice
49
Cryptococcus Toxoplasmosis Lymphoma
Cryptococcus - india ink Toxo- multiple lesions, ring enhancement Lymphoma - single lesion
50
Hwo does GABA have an inhibitory effect
It hyper-polarises the cell | by letting chloride ions in or potassium ions out
51
Agonists and antagonists at - GABA A - GABA B
GABA A: Agonists- alcohol, benzos, z drugs, barbiturates Antagonists- flumazanil GABA B: Agonists- GHB, baclofen

Genetics (11 decks)

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