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BPT exams > Buzzwords > Flashcards

Buzzwords Flashcards

1
Q

In the parasympathetic nervous system - the neurotransmitter of concern is ______ and it binds with ____ receptors

A

acethylcholine binds to nicotinic receptors on post ganglionic neurons and allows and influx of positive ions to go through

Acetylcholine binds to muscuranic receptors on the target organs which activates “G proteins”

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2
Q

Deficiency in C1 inhibitor leads to increases in ______.

A

Increased bradykinin and thus angiodema

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3
Q

SERPING1 gene is associated with _________

A

C1 inhibitor disease

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4
Q

Sensory and motor neuropathy, ataxia, retinal degeneration and haemolytic anaemia is associated with Vitamin __ deficiency?

A

Vitamin E deficiency

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5
Q

How do you calculate Stool Osmolarity?

A

Stool osmotic gap = Stool osmolality - 2(Stool Na + K)

Normally 50-100 = secretory
Osmotic diarrhea >100

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6
Q

Melanosis coli is pathognomonic for ______

A

Laxative abuse

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7
Q

Causes for osmotic diarrhea?

A

High osmotic gap (>100 mOsm/kg) causes of osmotic diarrhea include celiac sprue, chronic pancreatitis, lactase deficiency, lactulose, osmotic laxative use/abuse, and Whipple’s disease.

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8
Q

3 non-genetic causes for nephrogenic diabetes insipidus?

A

Obstructive uropathy, hypercalcaemia and lithium

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9
Q

Which phase of study evaluates efficacy, safety and dosing?

A

Phase II

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10
Q

What is the first phase of a study that looks at safety in a group less than 100?

A

Phase I

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11
Q

What are the anomalies seen in PHACES?

A 
Posterior fossa malformation
Haemangiomas - typically facial
Arterial anomalies
Coarctation + other cardiac defects
Eye abnormalities
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12
Q

What eye anomalies are seen in PHACES?

A

Morning glory disc anomaly, glaucoma, cataracts, microphthalmia, optic nerve hypoplasia

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13
Q

Which syndrome?

An activating missense mutation in the GNAS1 gene encoding the α-subunit of GS, the G protein that stimulates cyclic adenosine monophosphate (cAMP) formation…

A

Mc-Cune Albright syndrome

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14
Q

In Mc-Cune Albright there is variability of clinical expression and the limited reliability of genetic testing from leukocyte DNA and unaffected tissues… why?

A

Because the mutation is postzygotic rather than genomic, it is expressed differently in different tissues (somatic mosaicism)

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15
Q

What are four extragonadal manifestations of Mc-Cune Albright syndrome?

A
  • Thyroid: Hyperthyroid
  • Adrenals: Cushing syndrome (excess cortisol)
  • Growth hormone: gigantism or acromegaly
  • Bones: Fibrous dysplasia of (usually) multiple bones
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16
Q

The main reason for rickets in Epidermal naevus syndrome, Raine syndrome, NF1, and McCune Albright - is due to excess secretion of FGF-23. What is the role of FGF-23?

A

FGF-23 is secreted by bones -> it decreases the reabsorption of phosphate and also suppress 1-alpha-hydroxylase, reducing its ability to activate vitamin D and subsequently impairing calcium absorption

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17
Q

_________ is is an X-linked proximal tubulopathy with characteristic abnormalities that include low-molecular-weight proteinuria, hypercalciuria, and other features of Fanconi syndrome.

They develop nephrocalcinosis, nephrolithiasis, progressive renal failure, and hypophosphatemic rickets

A

Dent Disease - CLCN5 gene

-> which encodes a renal Cl−/H+ antiporter

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18
Q

How do you differentiate a ‘dominant Bartter syndrome–like picture’ (also known as Bartter syndrome type V) vs classic Bartter syndrome

A

Mutations in an extracellular basolateral calcium-sensing receptor normally present in the loop of Henle.

Thus they present with suppressed parathyroid hormone function with hypocalcaemia, which differentiates them from patients with Bartter syndrome.

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19
Q

Which cytokines help turn a naive T cell into a TH2 helper cell?

A

IL-4, IL-5, IL-10

Also IL-13

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20
Q

Which interleukin helps switch B cells from IgM making to IgE making?

A

IL-4

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21
Q

TH2 cells also release ____ which stimulates production and activation of Eosinophils

A

IL-5

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22
Q

Give example of guanasine analogue?

A

Acyclovi

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23
Q

Examples of viral DNA polymerase inhibitors?

A

Cidofivir and Foscarnet

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24
Q

________ is a finding in the macula of the eye in a variety of lipid storage disorders and in central retinal artery occlusion

A

Cherry red spot

The cherry red spot is seen in central retinal artery occlusion, appearing several hours after the blockage of the retinal artery occurs. The cherry red spot is seen because the macula receives its blood supply from the choroid, supplied by the long and short posterior ciliary arteries

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25
Q

3 antipsychotic medication most related to weight gain?

A

Clozapine, Olanzapine, Quetipaine

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26
Q

Name the 2 most common gene defects seen in MODY?

A

1) Hepatocyte nuclear factor 1-alpha

2) Glucokinase gene defect

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27
Q

MODY Type 1 with HNF4α abnormality presents with ecreased levels of triglycerides, apolipoproteins AII and CIII (5–10% of MODY), neonatal hypoglycemia, very sensitive to _________

A

Sulfonyureas

MODY type 4 (HNF1a) - also responds to Sulfonyureas

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28
Q

Which MODY?

Decreased renal absorption of glucose and consequent glycosuria; most common type of MODY

A

MODY 3 - HNF1α anomaly

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29
Q

Which MODY?

Hyperglycemia of early onset (often neonatal diabetes) but mild and non-progressive; common

A

MODY 2 - glucokinase anomaly

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30
Q

Which MODY?

Renal malformations; associated with uterine abnormalities, hypospadias, joint laxity, and learning difficulties, pancreatic atrophy, pancreatic exocrine insufficiency; 5–10% of MODY

A

MODY5 - HNF1β

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31
Q

Which MODY?

Homozygous mutation causes pancreatic agenesis

A

MODY 4 - IPF1

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32
Q

__________ 1 is characterized by diabetes insipidus, DM, optic atrophy, and deafness—thus, the acronym DIDMOAD

A

Wolfram syndrome

33
Q

Which syndrome?

The features include extreme insulin resistance, acanthosis nigricans, abnormalities of the teeth and nails, and pineal hyperplasia

A

Rabson-Mendenhall Syndrome

34
Q

When do you use a fisher test versus chi squared test?

A

The type of test (formula) used for a hypothesis test depends on whether the data is dichotomous or continuous. For dichotomous data, use either a Fisher’s exact test or chi-squared test, with the former being used if there is a value <5 in one or more of cells in the data table.

35
Q

When do you use a T-test vs Wilcoxon test?

A

For continuous data, when you compare two groups, either a t-test or a Wilcoxon signed rank test can be used, with the former used for normally distributed (parametric) data and the latter used for non-parametric data.

36
Q

What is the half life of adenosine?

A

10 seconds

37
Q

What is the recommended interval between IVIG (for Kawasaki) and immunisations?

A

11mo

38
Q

Which anti-epileptic is contraindicated in juvenile myoclonic epilepsy?

A

Carbamazepine

39
Q

PRRT2 gene is associated with …

A

Self-limiting and familial infantile seizures

40
Q

SCN1A is associated with

A

Dravet syyndrome

41
Q

GABRA1 is associated with —

A

Juvenile myoclonic epilepsy

42
Q

Which syndrome?

1) Defective degranulation of neutrophils
2) Mild bleeding diathesis
3) Partial oculocutaneous albinism - light skin, silvery hair, photophobia
4) Progressive peripheral neuropathy

And tendency to cause HLH

A

Chediak Higashi Syndrome

43
Q

Which syndrome?

Loss of function of LYST (for lysosomal traffic regulator), the gene mutated in CHS, is located at chromosome 1q2-q44.

Lead to indiscriminate interactions with lysosomal surface proteins, yielding giant granules through uncontrolled fusion of lysosomes with each other.

A

Chédiak-Higashi Syndrome

44
Q

Which syndrome?

The diagnosis of this syndrome is established by finding large inclusions in all nucleated blood cells. These can be seen on Wright-stained blood films and are accentuated by a peroxidase stain. Because of impaired egress from the bone marrow, cells containing the large inclusions may be missed on peripheral blood smear but readily identified on bone marrow examination.

A

Chédiak-Higashi Syndrome

45
Q

What sort of haematological anomaly is found in Chediak-Higashi syndrome?

Abnormal platelets? Raised PT? neutropenia?

A

Prolonged bleeding time

46
Q

How can you treat Chédiak-Higashi Syndrome?

A

High-dose ascorbic acid may improve clinical status.

HSCT is the only treatment

47
Q

Inverted T waves in lead V1 and VL are suggestive of….

A

Inferior MI

48
Q

Which syndrome?

Autosomal dominant disorder
• Features can include: microcephaly, limb malformations, oesophageal and duodenal
atresias, and learning disability/mental retardation

• Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and
fifth fingers, syndactyly
toes), and shortened or absent middle phalanges

A

Feingold syndrome

49
Q

How does Omalizumab work?

A

is a humanized monoclonal antibody (mAb) that binds IgE and prevents its binding to the high-affinity IgE receptor

50
Q

How does Mepolizumab work?

A

An anti–IL-5 antibody that blocks IL-5-mediated eosinophilopoiesis, reduces severe asthma exacerbations and lowers sputum and blood eosinophils

Reduces need for OCS dose for adults

51
Q

How does Dupilumab work?

A

An anti–IL-4 receptor antibody that inhibits both IL-4 and IL-13 production (both cytokines share the same IL-4 receptor) and atopic immune responses

52
Q

Clinical studies do not support the routine use of allergen immunotherapy for…

A

food hypersensitivity, chronic urticaria and/or angioedema, latex allergy, or drug allergies

53
Q

An inactivating mutation of the calcium sensing receptor produces…

hypercalcaemia or hypocalcaemia?

A

Hypercalcaemia

54
Q

DRESS (Drug related Eosinophillic skin syndrome) It is classically seen ______ after initial exposure to an anticonvulsant (carbamazepine, phenobarbital, phenytoin, lamotrigine) or other drugs (allopurinol, minocycline, sulfonamides [dapsone, sulfasalazine.

When is DRESS seen?
What is the common triad?

A

DRESS is seen 2-6 weeks after initial exposure

Common triad: Rash, fever and hepatitis

DRESS syndrome is often distinguished from other medication reactions by its later onset following drug exposure and more persistent course.

Can get very sick with shock.

Late-onset thyroiditis and hypothyroidism may occur months later as a result of antimicrosomal antibodies directed against thyroid peroxidases involved in drug metabolism.

55
Q

Malignant Hyperthermia-susceptible (MHS) individuals have skeletal muscle receptor abnormalities, most often in _______________, which allow excessive intracellular
calcium to accumulate in response to triggering agents

A

Ryanodine receptors (RYR1)

56
Q

What are the immunodeficiencies seen with Ataxia Telengectasia?

A

The most frequent humoral immunologic abnormality is the selective absence of IgA, which occurs in 50–80% .

IgG2 or total IgG levels may be decreased, and specific antibody titers may be decreased or normal

57
Q

What are characteristic features of Omenn syndrome?

A

Symptoms of GVHD

Other symptoms include eosinophilia, failure to thrive, swollen lymph nodes, swollen spleen, diarrhea, enlarged liver, low immunoglobulin levels

58
Q

Causes of Madelung deformity can be remembered with the pneumonic:

HITDOC.

What is it?

A 
Hurler syndrome
Infection
Trauma
Dyschondrosteosis
Osteochondroma
Congenital e.g. Turner's syndrome
59
Q

Heterozygous SHOX mutations cause _________________, a rare skeletal dysplasia that involves bilateral bowing of the forearms with dislocations of the ulna at the wrist and generalized short stature. Homozygous SHOX mutations cause the much more _____________

A

Heterozygous mutation - Leri-Weil dyschondrosteosis

Severe Langer mesomelic dwarfism.

(Autosomal dominant)

60
Q

What is the pathological abnormality in achondroplasias?

A

Heterozygous mutations of genes encoding FGFR3 (fibroblast growth factor receptor 3) and PTHR1 (parathyroid hormone-1 receptor) result in disorders involving transmembrane receptors.

The mutations cause the receptors to become activated in the absence of physiologic ligands, which accentuates normal receptor function of negatively regulating bone growth. The mutations act by gain of negative function.

61
Q

What is the inheritance pattern for achondroplasia?

A

Achondroplasia behaves as an autosomal dominant trait; most cases arise from a new mutation to average stature parents

62
Q

Gene mutations in COMP results in …

A

Pseudoachondroplasia

63
Q

Severe congenital neutropenia (SCN), also often known as _______ , is a group of rare disorders that affect myelopoiesis, causing a congenital form of neutropenia, usually without other physical malformations. SCN manifests in infancy with life-threatening bacterial infections

A

Kostmann syndrome

Presents in first few months of life

ELANE and HAX1 gene mutations

64
Q

Pyoderma gangreonosum is associated with? (which IBD)

A

Ulcerative colitis

65
Q

Erythema nodosum is associated with? (which IBD)

A

Crohns disease

66
Q

Name some extraintestinal manifestations more common with Crohns disease?

A

Aphthous ulcers, peripheral arthritis, erythema nodosum, digital clubbing, episcleritis, renal stones (uric acid, oxalate), and gallstones

Note: Arthritis and episcleritis correlate well with disease activity

67
Q

Name 5 extraintestinal manifestations more common with Ulcerative colitis?

A

1) Pyoderma gangrenosum
2) sclerosing cholangitis,
3) chronic active hepatitis,
4) and ankylosing spondylitis

68
Q

Female with need to incontinence 5 minutes after urinating - what is this?

How do you manage?

A

Vaginal voiding due to labial adhesion

Sit on the toilet backwards and spread legs apart widely

69
Q

Viral myositis commonly caused by which virus?

A

Influenzae B

70
Q

Which syndrome with ptosis increases risk of JMML?

A

Noonan syndrome

71
Q

Waardenburg syndrome is a syndrome with failure to have melanocyte migration. What are the four most common features?

Specific features for Type 3?
Specific features of Type 4?

A

1) Depigmented skin.
2) Deafness occurs in 9–37%
3) Heterochromia irides in 20%,
4) unibrow (synophrys)

Type 3 - + limb anomalies
Type 4 - + Hirschsprung disease

72
Q

Where is erythropoetin produced?

A

Erythropoietin is produced by interstitial fibroblasts in the kidney in close association with the peritubular capillary and proximal convoluted tubule. It is also produced in perisinusoidal cells in the liver.

73
Q

HLA B1502 is associated with….

A

Carbamazepine and TENS

74
Q

HLA DR3 and DR7 associated with…

A

Graves disease

75
Q

HLA DR4 and DR3 associated with…

A

Hashimoto

76
Q

HLA DR3, DR8 and DR15 associated with…

A

SLE

77
Q

Bone marrow with wrinkled tissue paper.

macrophages classic

A

Gaucher disease

78
Q

Cherry red spot, no hepatosplenomegaly, vacuolated lymphocytes, severe neurodevelopmental delay in infancy, HEXA gene.

A

Tay Sachs

79
Q

X- linked. Purine metabolism. Problems with motor function, growth, self injury, hyperuricaemia, cognitive impairment.

A

Lesch Nyan

BPT exams (24 decks)

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