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Module 204 > Diseases > Flashcards

Diseases Flashcards

1
Q

Waldenstrom’s macroglobulinaemia

A

Affects B cells transitioning to plasma cells (lymphoplasmacytic cells) as they make large amounts of IgM
Effects: excessive bleeding, vision problems, headaches, anaemia, neutropenia, thrombocytopenia
Due to MyD88 mutation

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2
Q

Gain of function mutation in NOD2

A

Sarcoidosis

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3
Q

Loss of function mutation in NOD2

A

Crohn’s disease

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4
Q

Gain of function mutation in NLRP3

A

Crypopyrin-associated periodic syndromes (CAPS)
Causes IL-1 overproduction
Subtypes of CAPS: Muckle Wells syndrome and Familial cold auto-inflammatory syndrome
Rx = Anakinra (IL-1R antagonist)

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5
Q

Gain of function mutation in TMEM173

A

STING associated vasculopathy with onset in infancy

Causes abnormal inflammation throughout the body due to type 1 interferon expression

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6
Q

C4 deficiency

A

Observed in 90% of SLE sufferers

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7
Q

C1 inhibitor deficiency

A

Hereditary angioedema
Autosomal dominant
Low C1 inhibitor levels causes high levels of vasoactive C2a (due to increased classical complement activation) and increased clotting activity resulting in high levels of bradykinin
C2a and bradykinin cause fluid to leak out of blood into tissue causing inflammation and swelling of the face, airways, limbs, etc. as well as pain
Symptoms appear in teenagers
Need to differentiate from other causes of angioedema e.g. allergy, drug-induced, urticaria, etc. –> check C4 levels
Rx: IV C1 inhibitor concentrate (2/3 vials at £400 each per attack)

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8
Q

MBL deficiency

A

Pyogenic infections in children

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9
Q

C8 deficiency

A

Associated with Neisseria meningitidis infections

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10
Q

Phocomelia

A

Absent limb/malformed limb due to failure of limb bud growth causing a lack of proliferation
Genetic cause or thalidomide

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11
Q

Syndactyly

A

Webbed fingers and toes

Digits fuse due to lack of cell death or problems with cell proliferation during development

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12
Q

Paget’s disease

A

Poor regulation of osteoclast and osteoblast activity
Bones appear weak and deformed
Pt experiences joint pain and stiffness
Mottled bone appearance on x-ray

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13
Q

Difference between type 1 and type 2 HAE

A

Type 1: missense mutation or deletion in C1INH gene or low levels of C1INH
Type 2: point mutations at active site or high levels of dysfunctional C1INH

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14
Q

Acquired HAE

A

Seen in SLE due to autoantibody production against C1INH

Monoclonal B cell disorders with paraproteins

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15
Q

Terminal complement deficiency

A

Deficiency of C5-9 causing an inability to form membrane attack complexes
Results in recurrent Neisseria meningitidis infections
Rx = vaccination against meningococcal infection

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16
Q

Transient hypogammaglobulinaemia

A

Low IgG after 6 months
Usually resolves within 24months
May also see low IgA or IgM
More frequent and prolonged infections seen

17
Q

X-linked agammaglobulinaemia

A

Mutation in Bruton’s tyrosine kinase gene blocking B cell maturation at the pro-B cell stage
No antibody production

18
Q

X-linked hyper-IgM syndrome

A 
CD40L deficiency
Normal or high IgM
Low IgG and IgA
Recurrent bacterial infections
Rx = stem cell transplant, G-CSF, anti-microbials, immunosuppressants
19
Q

Severe combined immunodeficiency

A

No T and B cell production therefore no adaptive immune response
Due to common gamma chain deficiency/JAK3 deficiency disrupting cytokine signalling or RAG1/2 deficiency preventing somatic recombination in TCR and BCR
Signs: failure to thrive, chronic diarrhoea, OIs, rash
Rx = SC transplant from HLA-matched donor or gene therapy (genetic modification of SCs)

20
Q

DiGeorge syndrome

A

Failure of 3rd and 4th branchial arch resulting in absent parathyroids, thymic aplasia, cleft palate and CHD
Microdeletions on chromosome 22

21
Q

UMN lesions

A

Hypertonia (due to loss of descending inhibition)
Hyperreflexia (due to loss of descending inhibition)
Pyramidal weakness
Flexed posture (flexors stronger than extensors)

22
Q

LMN lesions

A

Wasting of muscles/fasciculations
Hyporeflexia
Hypotonia
Weakness in myotomal or peripheral nerve distribution

23
Q

Herpes zoster

A

Manifests around the first Trigeminal nerve

24
Q

Erb’s palsy

A

Upper motor lesion
Paralysis of the arm due to severing of upper trunk C5-6 nerves
Hand is working as part of the brachial plexus is working
Musculocutaneous and lateral half of median nerve affected

25
Q

Klumpke’s palsy

A 
Inferior trunk plexus injury
C8 and T1 injured
Lateral half of median nerve and ulnar nerve affected
Claw hand
Arm works but hand doesn't work
26
Q

Neoplastic brachial plexopathy

A

Cancer invades the brachial plexus to cause pain in the shoulder girdle and inner arm

27
Q

Idiopathic brachial neuritis

A

Parsonage-Turner syndrome
Causes severe pain over days then pain subsides to cause weakness and wasting of muscles
Inflammatory cause of brachial plexus injury
Rx with physiotherapy and analgesia

28
Q

Thoracic outlet syndrome

A

Thenar wasting seen as median nerve is affected
Paraesthesia, numbness and weakness
Aggravated by elevation or sustained use of arms and hands

29
Q

Wing scapula

A

Long thoracic nerve which supplies the serratus anterior muscle is affected

30
Q

Carpal tunnel syndrome

A

Compression of median nerve at carpal tunnel
Results in thenar wasting
Causes = diabetes pregnancy, hypothyroidism, rheumatoid arthritis, repetitive strain

31
Q

Anterior interosseous nerve compression

A

Usually where two heads of pronator teres emerge

Occurs due to prolonged gripping tightly with forced pronation e.g. using a screwdriver

32
Q

Anterior interosseous nerve syndrome

A

Weakness in flexors = flexor pollicis longus and flexor digitorum profundus affected

33
Q

Ulnar nerve palsy at the elbow

A

Flexor digitorum profundus affected with flexion at the proximal interphalangeal joint

34
Q

Spinal muscular atrophy

A

Floppy baby syndrome
Common genetic cause of infant death
LMNs in anterior horn of spine die due to SMN1 gene . defect
AR

35
Q

Malignant hyperthermia

A

Ryanodine receptor mutation (AD)
SERCA works too hard to pump calcium back into SR
Results in hyperkalaemia, rhabdomyolysis, muscles overheating
Rx = dantrolene sodium - stop Ca2+ release

36
Q

Muscular dystrophies

A

Severe and progressive wasting of muscles

E.g. Duchenne (X-linked) caused by dystrophin protein gene mutation –> Gower’s sign observed

Module 204 (5 decks)

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