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3rd Year > Case 18-20 > Flashcards

Case 18-20 Flashcards

0
Q

Criteria for screening tests

A 
Common disease, causes significant morbidity/mortality
Cheap test
Non-invasive test
Long latent/asymptomatic period
Treatable if detected early
Natural history adequately understood
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1
Q

Screening vs diagnostic tests

A 
Healthy patient vs suspicious patient
Cheap vs expensive
Not definitive vs definitive
High false positive rate vs low false positive rate
Low false negative vs low false negative
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2
Q

Non invasive prenatal tests

A

Ultrasound (from 11 weeks)
Doppler studies
MRI
Maternal serum biochemistry

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3
Q

Invasive prenatal tests

A

Amniocentesis: 15-18 wks. Complications - miscarriage, transient amniotic fluid leakage, intrauterine infection

Chorionic villus sampling: 8-13 wks. Complications - miscarriage, infection, bleeding, limb defects. Problems - placental mosaicism, maternal contamination

Cordocentesis

Cordocentesis

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4
Q

Down syndrome 1st trimester testing

A

11-13 weeks
Beta hCG increased
PAPP-A decreased
Nuchal translucency

Follow up with counselling, amniocentesis and karyotyping

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5
Q

hCG

A

Glycoprotein made by the syncytiotrophoblasts
Alpha subunit common to TSH, FSH, LH
Beta subunit unique to hCG
Stimulates corpus luteum in early pregnancy

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6
Q

AFP

A

Dominant fetal plasma protein
Initially produced by the yolk sac and then by the liver
Levels peak at the end of the first trimester
Marker for HCC and germ cell tumours

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7
Q

Oestriol

A

Primary oestrogen of pregnancy
10% is unconjugated
Increases with gestational age
Requires fetal adrenals, liver and placenta to be functional

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8
Q

Dimeric inhibin A

A

Produced in the pituitary, ovaries and placenta
Negative feedback regulator of FSH
Placenta produces large amounts to completely suppress FSH
Not produced by men

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9
Q

PAPP-A

A

Glycoprotein produced by the syncytiotrophoblast
Cleaves insulin like growth factor binding protein
Marker of acute coronary syndrome

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10
Q

Down syndrome second trimester screening

A 
15-23 weeks
Triple test:
AFP decreased
hCG increased
Unconjugated E3 decreased

Add dimeric inhibin A for quad test (increased)

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11
Q

Edward syndrome clinical features

A

Cardiac defects
Renal anomalies
Severe mental retardation
CNS defects

50% die within 2 months , 5-10% live to 1 year

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12
Q

Edward syndrome 1st trimester testing

A

Decreased PAPP-A
Decreased hCG
Increased NT

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13
Q

Edward syndrome 2nd trimester screening

A

Decreased AFP, hCG, uE3

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14
Q

Cell free DNA

A

Fetal RhD

Fetal sex determination

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15
Q

NTD teratogens

A

Diabetes
Anticonvulsants
Alcohol
Hyperthermia

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16
Q

Genetic counselling session

A

Information gathering: pedigree, pregnancy course, teratogens, psychosocial circumstances

Information giving: test results, implications, options

Planning: investigations, TOP, follow up and support, future

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17
Q

Periconceptual folic acid

A

1 month before and 3 months after conception

400 micrograms for normal risk

4 mg for high risk

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18
Q

Primary prevention of NTDs

A

Impoved health, nutrition and antenatal care
Family planning
Periconceptual folate
Detection/treatment of maternal infection and chronic disease
Avoidance of teratogens
Generic counselling and screening

19
Q

NTD secondary prevention

A 
Identification of high risk pregnancies
Ultrasound evaluation of fetal health
Genetic counselling
Voluntary antenatal testing where appropriate
Access to voluntary TOP
20
Q

Tertiary prevention of NTDs

A 
Early and accurate diagnosis
Intervention to avoid and minimise complications
Medical and surgical treatment
Rehabilitation
Psychosocial support
21
Q

Embryology of the medulla, basal plate nuclei

A

Medial to lateral:
Somatic efferent (XII)
Special visceral efferent (XI, X, IX)
General visceral efferent

22
Q

Embryology of the medulla, alar plate nuclei

A

Medial to lateral:
General visceral afferent (GIT, heart)
Special visceral afferent (taste buds, oropharynx)
Somatic afferent (V, VIII)

23
Q

Viral spread to the CNS

A

Retrograde via axons. HSV, rabies

Anterograde nerve uptake. HSV, VZV, influenza via olfactory nerve

Trojan horse entry via leukocyte. HIV, CMV

Infection of the endothelium. WNV

24
Q

Viral aseptic meningitis

A 
Fever, meningism, headache
Normal LOC
Anorexia and vomiting
Usually excellent prognosis
Supportive treatment
25
Q

Commonest causes of viral meningitis

A

Enteroviruses. Children. Seasonal. Institutional outbreaks.

HSV (2). Adults following primary genital HSV

Mumps.

26
Q

Outcomes of poliovirus infection

A

Sub clinical infection

Abortive infection. Mild flu-like illness. Possible aseptic meningitis

Major illness. Aseptic meningitis, flaccid paralysis etc

27
Q

Laboratory diagnosis of enteroviruses

A

PCR

Culture

28
Q

Herpes simplex encephalitis

A

Commonest cause of sporadic viral encephalitis
2/3 viral reactivation (HSV 1)
1/3 primary infection (neonates, HSV 2)

Affinity for temporal lobes
Medical emergency, start immediate acyclovir
Diagnose with PCR

29
Q

CMV encephalitis

A 
HIV associated
Slow, progressive
Optic neuritis, retinitis
Diagnosis with PCR, viral load
Treat with ARVs and gancyclovir
NB immune reconstitution reaction
30
Q

Mumps

A

Aseptic meningitis:
Onset varies 1 week before or 3 weeks after parotitis.
Symptoms subside 3-10 days later. Deafness 1/20000.

Encephalitis:
Convulsions, abnormal movement and sensation, focal signs
Outcome varies

31
Q

Measles CNS syndromes

A

Acute measles post-infectious encephalitis: within 8 days of onest. Autoimmune reaction against myelin protein

Measles inclusion body encephalitis: immune compromised patients. A few weeks to 6 months. Mostly unilateral. Death within a few months.

SSPE: 6-8 years after initial infection. Progressive, fatal, can sometimes take 20-30 years

32
Q

Rubella

A

Rash, arthritis. Meningitis rare, usually benign.

Post infectious encephalitis. Within a week of rash onset. ADEM

33
Q

South african arboviruses

A

West nile virus

Rift valley fever

34
Q

Rabies pathogenesis

A

Entry via bite
Local replication
Entry into nerves via neuromuscular junction
Spread via retrograde fast axonal transport 5-10 cm/day.
Replicates in CNS, spreads to periphery
Not found in the blood

35
Q

Rabies PEP

A

Touching/feeding animal, lick of intact skin: no action

Non-bleeding scratch, nibble or lick of broken skin: vaccine

Lick of mucous membranes, bites or scratches that draw blood: vaccine + Rabigam

36
Q

Predisposing factor to S. Pneumoniae meningitis

A 
Extremes of age
Immunosuppression
Csf leak
Alcoholism, malnutrition
Septic focus
Splenectomy
37
Q

Contraindication to LP before CT brain

A

GCS <10
Papilloedema
Ventriculoperitoneal shunt
Unexplained seizure or new neurological focal deficit excluding isolated CN palsies

Severe cardiorespiratory compromise
Evidence of abnormal bleeding
Sepsis over LP site

38
Q

Core consciousness

A

Level of consciousness + contents of consciousness

39
Q

Extended cosciousness

A

Involves the ability to reflect on and remember conscious experiences

40
Q

Four basic emotions

A

Seeking/curiosity. Dopamine mediated. VTA

Fear. Amygdala

Rage. Amygdala

Panic, anxiety, loss. Anterior cingulate gyrus

41
Q

Congenital bleeding disorders

A

Haemophilia A. Factor VIII deficiency
Haemophilia B. Factor IX deficiency
Both are X-linked recessive disorders

Congenital defects in platelet function. Von Willebrand’s disease. Autosomal dominant. Usually not severe

42
Q

Why may females present with haemophilia even though it is X-linked?

A

Both X copies mutated

Skewed X inactivation pattern

Turner syndrome + other abnormalities of the X chromosome

43
Q

Congenital predisposition to thrombosis

A

More common:
Factor V Leiden
Prothrombin mutation

Rare:
Antithrombin III deficiency
Protein C and Protein S deficiency

44
Q

Causes of apparent mineralocorticoid excess

A

Glucocorticoid excess
Liquorice
Defect of 11-beta-HSD
Liddle’s syndrome

3rd Year (7 decks)

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