Psychmentor notes Flashcards

Question

genetic mapping

Answer 1

Gene mapping 1. Genetic mapping - uses techniques such as pedigree analysis. 2. Physical mapping - uses molecular techniques to cut the DNA into pieces (using restriction enzymes) then to look at the pattern of pieces that result/used to sequence DNA ``` Physical maps can be divided into three general types (vary in resolution): chromosomal or cytogenetic maps, radiation hybrid (RH) maps, sequence maps ```

Answer 2

LANDMARKS The medial longitudinal fissure - right and left hemispheres The lateral sulcus/Sylvian fissure - this divides the frontal and parietal lobes above from the temporal lobe below The central sulcus/ fissure of Rolando - this separates the frontal from the parietal lobe

Answer 3

Superior frontal Frontal lobe Laughter and self awareness Precentral Frontal lobe Voluntary movement control Postcentral Parietal lobe Touch Angular Parietal lobe Language, mathematics and cognition Fusiform Temporal lobe Face and body recognition, word and number recognition (visual) Superior temporal Temporal lobe Launguage (Wernicke's area), and sensation of sound Lingual Occipital Dreaming, word recognition (visual) Cingulate Adjacent to the corpus callosum Emotion, learning, and memory Parahippocampal Surrounds the hippocampus Memory (also asymmetry has been observed in schizophrenia)*** Dentate Hippocampus Formation of episodic memory

Answer 4

Histine--->histidine decarboxylase---> histamine---> histamine methyltransferase and MAO H1 CNS tissue, smooth muscle, and endothelium Vasodilation, bronchoconstriction, pain and itching from stings H2 Parietal cells in stomach Stimulates gastric acid secretion H3 Central and peripheral nervous tissue Decreases the release of other neurotransmitters (serotonin, noradrenaline, acetylcholine) H4 Basophils Chemotaxis (cellular movement)

Answer 5

HPA in depression: There is hypersecretion of cortisol, (CRF), and ACTH and adrenocortical enlargement. Levels of CRF elevated in the CSF CRF normalises upon recovery other psychiatric disorders: Alzheimer's and PTSD. HPA axis dysfunction in bipolar disorder (Daban, 2005) Dysregulation of ACTH and cortisol response after CRH. Changes in CRH are prior to manic or hypomanic symptoms Abnormal DST more often during depressive episodes in bipolar disorder than in unipolar Reduced pituitary volume secondary to LHPA stimulation, resulting in pituitary hypoactivity The severity of the manic episode is highly correlated with degree of neuroendocrine alteration.

Answer 6

hyperhidrosis (sweats), hyprsexuality, hyperorality, visual agnosia adolescent boys greatly increased need for sleep and a tendency to eat any food in sight emotional and behavioural problems including irritability and aggression. symptoms often appear abruptly, remain for a few days to weeks and then disappear-->normality pattern can repeat for years with a gradual reduction of severity over time Outcome is reported to be good with the majority of people making a full recovery.

Answer 7

overproduction and accumulation of uric acid. usually cannot walk, require assistance sitting, generally wheelchair-bound. Self-injury, including biting and head banging, is the most common and distinctive behavioral problem ** Mutations in the HPRT1 gene ----> severe Deficiency of hypoxanthine phosphoribosyltransferase 1. responsible for recycling purines (building block of DNA and RNA) If lacking, the breakdown of purines results in abnormally high levels of uric acid in the body. X-linked recessive pattern.

Answer 8

macroscopic: cerebral atrophy (less than AD), pallor of SN micrsocopic: lewy bodies = intracellular protein accumulations/eosinophillic cytoplasmic neuronal inclusions WITH alpha synuclein, senile plaques, NFTs (3)

Answer 9

Monoamine oxidase (MAO) comes in two forms:- MAO-A metabolises dopamine, serotonin, noradrenaline, adrenaline, and melatonin MAO-B dopamine and phenethylamine

Answer 10

Rare disorder those with alcoholism and malnutrition. non specific clinical features: motor or cognitive disturbance. progressive demyelination and subsequent necrosis of the corpus callosum. May be acute/chronic and is marked by dementia, spasticity, dysarthria, and an inability to walk. may lapse into coma and die, survive for many years in a demential condition, or occasionally recover (in other words anything can happen!).

Answer 11

One of Parkinson plus syndromes (*poor response to P treatments), three cardinal features of:- 1. Parkinsonism 2. Autonomic failure 3. Cerebellar ataxia It presents in one of three ways:- ``` Shy-Drager Syndrome (mainly autonomic features) Striatonigral degeneration (mainly Parkinson features) Olivopontocerebellar atrophy (mainly cerebellar features) ``` Macroscopic features include:- Pallor of substantia nigra Greenish discolouration and atrophy of the putamen Cerebellar atrophy Microscopic features include:- Papp-Lantos bodies (alpha-synuclein inclusions in oligodendrocytes found in the substantia nigra, cerebellum, and basal ganglia)

Answer 12

Nonsense -- (TAA, TAG, or TGA)

Answer 13

myeline = 40% water 80% lipid begins in the developing foetus (at approximately 14 weeks). continues through childhood and adolescence into early adulthood last area to eliminate is the frontal lobes Myelinated axons = white hence the 'white matter' of the brain ``` progression: central to peripheral caudal to rostral dorsal to ventral sensory then motor ```

Answer 14

Forebrain (prosencephalon) --> telencephalon and diencephalon Midbrain (mesencephalon) Hindbrain (rhombencephalon) -->metencephalon and myelencephalon dien- prethalamus, thalamus, hypothalamus, subthalamus, epithalamus, and pretectum and eye vesicles tel-cerebral cortex, underlying white matter, and the basal ganglia. mesen-tectum (or corpora quadrigemina), tegmentum, ventricular mesocoelia, cerebral peduncles, nuclei and fasciculi. rhomb- medulla, pons, and cerebellum divided into 8 rhombomeres: R7-R4--> myeleo--->medulla oblongata, a caudal portion of the fourth ventricle, and portions of CNs: 8-12) R3-1 -->meten -->pons, cerebellum, portion 4th ventrcle and of CNs: 5-8)

Answer 15

NEUROIMAGING AD: cerebral atrophy and ventricular enlargement is seen in 2/3 MRI- Medial temporal lobe atrophy (smaller hippocampi). Periventricular white matter (also age, small strokes, demyleination) SPECT demonstrates temporo-parietal hypo perfusion VASCULAR CT and MRI: atrophy, infarcts, extensive deep white matter lesions SPECT- patch multi focal hypoperfusion LBD: CT and MRI ventricular enlargement relative preservation of medial lobe structures White matter changes similar to Alzheimer's disease are also seen. SPECT- posterior deficits and reduced D2 receptor density

Answer 16

PET AND SPECT- detect emissions from radioactive substances that have been injected SPECT detects GAMMA rays as substance decays PET detects them following collisions of poistrons and electrons PET is more expensive but offers better spatial and temporal resolution Several nucleotides are used in PET including N13 (nitrogen), C11, O15, F18* COMMON Magnetic resonance spectroscopy (MRS) - allows chemical sampling of the brain. NO image. Gives a breakdown of the amounts of different chemicals in areas. can be used to look at specific metabolites such as glutamate. Perfusion MRI (pMRI) - This technique evaluates microscopic blood flow in CAPILLARIES. Diffusion tensor imaging (DTI) - DTI provides a method for estimating the paths water takes as it diffuses through white matter, and so showing white matter tracts. It is a form of MRI. STRUCTURAL AND FUNCTIONAL

Answer 17

Nissl substance Consists of rough ER (with free ribosomes) and is the site of protein synthesis Melanin Function unknown, possibly a by-product of neurotransmitter synthesis

Answer 18

increase of Brain-derived neurotrophic factor (BDNF) concentrations in cortical areas decrease of BDNF in the hippocampus of patients neurotrophin-3 concentrations of frontal and parietal areas LOWER.

Answer 19

GAUCHER autosomal recessive disease Lacks an enzyme called glucocerebrosidase-->harmful substances to build up in the liver, spleen, bones, and bone marrow NIEMANN PICK lipids collect in the cells of the spleen, liver, and brain A: Lack of sphingomyelinase (enzyme used to beakdown sphingomyelin) Usually begins in the first few months of life Symptoms include:- Abdominal swelling Cherry red spot in the eye Feeding difficulties Progressive loss of early motor skills B Usually begins in late childhood or adolescence Similar to type A but milder and almost no nervous system involvement ``` C: Reduced sphingomyelinase activity usually school-aged children, but anytime Enlarged liver and spleen Learning difficulties and intellectual decline Seizures, Slurred, irregular speech Dystonia and cataplexy Ataxia and tremor Vertical supranuclear gaze palsy ``` D: Defect of movement of cholesterol between brain cells, possible variant of C Usually school age same symptoms as above E: Reduced sphingomyelinase activity adult onset same symptoms as C

Answer 20

tyrosine-->t. hydroxylase --> LDOPA--> D. decarbixylase-->dopamine --> d. beta hydroxylase-->Norad--> phenylethanolamine-N-methyltransferase--> Adren

Answer 21

NPH Hakim's triad of incontinence, gait ataxia, and dementia (wet, wobbly, wacky). Think pt CS

Answer 22

process of emotion, limbic system bilateral, symmetrical and on medical surface of brain links cortex to hypothalamus hipp-->mammilary body of hypothal-->ant nucleus of thal--> cingular cortex-->entorhinal cortex-->hippocampus

Answer 23

Bilateral damage to the parietooccipital lobe (at the junction of the two) is rare but can result in a condition called Balint's syndrome. This is characterised by:- 1 ocular apraxia (difficulty keeping the eyes still) 2. optic ataxia (difficulty moving the eyes to a specific position) 3. simultanagnosia (inability to simultaneously perceive the different aspects of a picture and appreciate it as a whole) NON DOMINANT PARIETAL dressing and constructional apraxia neglect anosognoisa DOMINANT = GERSTMANNS

Answer 24

PARKINSONS Macro: Pallor of the substantia nigra and locus coeruleus Micro: Lewy bodies, degen of dopaminergic neurones in PARS COMPACTA OF THE SN accumulation of alpha synuclein in DA cells ----- abnormal protein accumulation - lewy bodies GENETICS SNCA ON Cr 4 codes for alpha-synuclein. Autosomal dominant mutations linked to inherited Parkinson's disease. mutant forms of alpha-nuclein aggregate and induce other proteins to incorporate into the aggregate aggregates are known as Lewy bodies similar to the beta-amyloid plaques found in Alzheimer's patients. Another gene = is the Parkin gene. Note the majority of cases are sporadic.

Answer 25

``` Multiple system atrophy Progressive supranuclear palsy Corticobasal degeneration Lewy body dementia Pick's disease Parkinson's disease with amyotrophic lateral sclerosis (Lou Gehrig's disease) ```

Answer 26

``` ORDER LESS PLEASANT A-alpha (proprioception) A-beta (touch) A-delta (pain and temperature) C (pain, temperature, and itch) (UNMYELINATED) ```

Answer 27

Prion diseases include:- Gerstman-Straussler-Scheinker syndrome Fatal familial insomnia KURU,

Answer 28

*** Infectious forms of prion protein are resistant to proteases, whereas the normal form (PrPc) is not. Prions are infective agents composed of protein. Prion are made of proteins called PrP. normal form (PrPC) abnormal form PrPSc PrPSc can change adjacent PrPC into PRPSc PrPC is a normal constituent of cell membranes and is an alpha-helical structure. In PrPSc much of the alpha-helical structure is replaced by a beta-sheet structure. Prions cause disease by aggregating into plaques in the extracellular space of the central nervous system and therefore disrupt normal tissue structure.

Answer 29

gait and balance mood/dementia macro: pallor SN, and LC and discolour dentate nucleus, midbrain atrophy, sup cerebellar peduncles atropy, micro: gliosis, NFT, tau in astro and oligo, in SN subthalmic nucleus and GP

Answer 30

Blocks of alleles on a chromosome tend to be transmitted as a block through pedigree, and are known as a HAPLOTYPE recombination fraction is a measure of the distance between loci 0% if they are extremely close and 50% if they are on different chromosomes.

Answer 31

``` rare neurodevelopmental disorder (approx 1:10,000 female births) MECP2 gene (Xq28) but most cases sporadic ``` normal development to 18m then all language/social skills loss loss, stereotypic movements = (hand wringing =classic sign, licking, biting, slapping) ataxia. psychomotor retardation microcephaly after 12m Seizures are associated in 75% , but abnormal EEG in nearly all hyperventilation, apnea, and breath holding. may live to around 10yrs but no language ability and wheelchair

Answer 32

RNA nucleotides contain ribose while DNA contains deoxyribose RNA has the base uracil rather than thymine RNA is usually much shorter DNA------> RNA polymerase------> RNA mRNA- carries info from DNA to ribosomes tRNA brings AAs to the ribosome during translation rRNA makes up ribosomes, provides place for mRNA and tRNA o attach during translation

Answer 33

cousins/uncles 2% nephew 4% grandchild 5% parents 6% half sibling 6% full sibling 10% children 13% DZ 17% duel mating 46% MZ 48%

Answer 34

Segregation analysis Segregation analysis is used to determine the PATTERN of inheritance for a trait. Linkage analysis is used to determine the genetic LOCATION of a disease gene. think Linkage Location! Find DNA piece of known location, that is present in family with and not present in those without.

Answer 35

L-tryptophan which is obtained from the DIET. It crossed BBB whereas serotonin does NOT Transformation of L-tryptophan into serotonin involves two steps: 1. Hydroxylation to 5-hydroxytryptophan catalysed by tryptophan hydroxylase 2. Followed by decarboxylation of 5-hydroxytryptophan to serotonin (5-hydroxytryptamine) by L-aromatic amino acid decarboxylase substances that block SERT: MDMA, amphetamine, cocaine, TCA's, SSRI's. broken down by MAO and aledhyde dehydrogenase to 5HIAA (excreted urine)

Answer 36

5-HT2 stimulation is thought to underlie the effects of insomnia, agitation, and sexual dysfunction

Answer 37

sleep latency- onset of stage i) (5%, theta waves) ii) -45% ****** k complexes and spindle iii) - less delta iiii) - more delta by 90mins REM sleep (periods become greater as night progresses) 25% REM, 75%NREM REM: - Autonomic instability (variability in heart rate, respiratory rate, and BP) - Loss of muscle tone - Dreaming - Rapid eye movements - Penile erection - Deafness

Answer 38

concordance can either be pairwise or probandwise. Pairwise concordance rate = proportion of twin pairs in which both twin have the disease Probandwise concordance rate = proportion of proband twins who have an affected co-twin.

Answer 39

TAU STABILISES MICTORTUBULES FOUND IN AXONS, ABSENT IN DENDRITES CODED FOR ON CR 17 Major tauopathies include:- Alzheimer's, Pick's , Progressive supranuclear palsy, Cortiocobasal degeneration = major componant of NFT

Answer 40

swollen gums- vit c def ``` THIAMINE =vitamin b1 = cofactor must be ingested enzymes for: carbohydrate metabolism neurotransmitted production nucleic acid fatty acids and steroids ``` three enzymes: (sugar) transketolase, (pentose phosphate pathway):sugar-> gluc6phos->transketoloase-->ribose5phos and nicotamide adeneine dinucleotide ph (NADPH) pyruvate dehydrogenase (PDH) alphaketoglutarate dehydrogenase (KGDH); deficiency--> cell necrosis, cellular apoptosis, oxidative stress

Answer 41

TRANSCRIPTION initiation - RNA polymerase binds at a sequence of DNA called the promoter elongation- development of a short stretch of DNA that is transiently single-stranded termination- and release of RNA polymerase transcriptome is the collection of RNA molecules that results from transcription mRNA carries info from DNA to ribosomes fOR translation

Answer 42

WILLIAMS - DELETION CR 7 FRAGILE X CGG MYOTONIC DYSTROPHY CTG F. ATAXIA GAA HUNTINGTONS CAG SPINOCEREBELLAR ATAXIA CAG

Answer 43

complete penetrance | mutation of one of two tumour suppression genes (TSC1 and TSC2).

Answer 44

treatment with growth hormone and oestrogen therapy Spontaneous menstruation and childbirth occur in 2 to 5 percent may be explained by substantial 46,XX/45,X mosaicism Features include:- Short stature Webbed neck, Broad chest (widely spaced nipples) Gonadal dysfunction (amenorrhoea and infertility) Congenital heart disease (cardiac malformation in 1/3 of cases) Hypothyroidism mean IQ 90 but diificulty onverbal, social, and psychomotor skills

Answer 45

Vitamin A Nightblindness (aka nyctalopia) Vitamin B1 Beriberi and Wernicke-Korsakoff syndrome Vitamin B3 (niacin) Pellagra Vitamin C Scurvy Vitamin D Rickets Pellagra: triad of dementia, dermatitis, and diarrhoea alcoholics irritability, depression, mania and psychosis Thiamine: Dry beri-beri Wet beri-beri- heart failre signs Wernicke's ``` B6 def: (alcoholics and isoniazid) seborrhoeic dermatitis atrophic glossitis, angular cheilitis confusion somnolence ```

Answer 46

elfin face, cheerful, low nasal bridge, and mild to moderate mental retardation,sociable and verbal deletion q11.23 on chromosome 7 (codes for more than 20 genes) happens during recombination phase of meiosis detected using FISH rare prev: 1 in 20,000

Psychmentor notes Flashcards

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