Onexamination 2012 - BASIC SCIENCES - (Www.mymrcp.blogspot.com)

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Work Smart Session - MRCP Part 1

You are investigating the properties of a novel oral TNF-alpha antagonist in late stage clinical trials.

Which of the following would be an expected property of this agent?

(Please select 1 option)

Decreased endothelial reactivity

Decreased HDL cholesterol

Decreased insulin sensitivity

Decreased protein catabolism

Increased acute phase protein production

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You are investigating the properties of a novel oral TNF-alpha antagonist in late stage clinical trials.

Which of the following would be an expected property of this agent?


Decreased endothelial reactivity

Decreased HDL cholesterol

Decreased insulin sensitivity

Decreased protein catabolism This is the correct answer

Increased acute phase protein production Incorrect answer selected

Chronic inflammatory disorders including those associated with elevated tumour necrosis factor (TNF) are

noted to be associated with increased arteriolar stiffness and decreased endothelial reactivity.

TNF-alpha elevation is also known to be associated with increased insulin resistance and associated lipid

abnormalities such as decreased high-density lipoprotein (HDL) cholesterol.

Increased acute phase protein production is a feature of chronic inflammation, as such a TNF-alpha antagonist

is recognised to reduce this.

Question: 1 of 7 Time taken: 00:53

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Which of the following arteries are branches of the axillary artery?


Inferior ulnar collateral artery

Internal thoracic artery

Profunda brachii artery

Subscapular artery

Superior ulnar collateral artery


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Which of the following arteries are branches of the axillary artery?


Inferior ulnar collateral artery

Internal thoracic artery Incorrect answer selected

Profunda brachii artery

Subscapular artery This is the correct answer

Superior ulnar collateral artery

The internal thoracic artery arises from the subclavian artery.

The inferior and superior ulnar collateral arteries and the profunda brachii are branches of the brachial artery.

The subscapular artery arises from the axillary and is its largest branch, eventually anastomosing with the

ateral thoracic and intercostal arteries.

Related Articles (BMJ)

The electrophysiological profile of hereditary motor and sensory neuropathyâ€“Lom -- Ishpekova et al.

76 (6): 875 -- Journal of Neurology, Neurosurgery Psychiatry

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Salivary gland-like tumours of the breast: surgical and molecular pathology -- Pia-Foschini et al. 56

(7): 497 -- Journal of Clinical Pathology

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Radial osteomyelitis as a complication of venous cannulation -- Straussberg et al. 85 (5): 408 --

Archives of Disease in Childhood

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A 24-year-old man presents with proteinuria, haematuria and sensorineural deafness.

Which of the following protein structures is likely to be abnormal?


Fibrillin

Laminin

Type 1 collagen

Type 3 collagen

Type 4 collagen


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A 24-year-old man presents with proteinuria, haematuria and sensorineural deafness.

Which of the following protein structures is likely to be abnormal?


Fibrillin

Laminin

Type 1 collagen

Type 3 collagen

Type 4 collagen Correct

The diagnosis is Alport's syndrome, which is a disorder of type 4 collagen assembly and is inherited as an X

inked disorder in 85% of cases.

Fibrillin gene abnormalities are associated with Marfan's syndrome.

Type 1 collagen disorders are associated with osteogenesis imperfecta; it is the main type of collagen in tendon

and bone.

Type 3 collagen is the main component of reticular fibres.


Variability of aortic stiffness is not associated with the fibrillin 1 genotype in patients with Marfanâ€™s

syndrome -- De Backer et al. 92 (7): 977 -- Heart

Read article

Muscle fibrillin deficiency in Marfanâ€™s syndrome myopathy -- Behan et al. 74 (5): 633 -- Journal of

Neurology, Neurosurgery Psychiatry

Read article

Fibrillin and the eye -- ASHWORTH et al. 84 (11): 1312 -- British Journal of Ophthalmology

Read article


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The Extracellular Matrix (ECM)themedicalbiochemistrypage.orgthemedicalbiochemistrypage.or g/extracellularmatrix.phpThe Extracellular Matrix (ECM)


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Which of the following does N-acetylcysteine replenish?


Cystathionine

Cytochrome P450

Glucuronyl transferase

Glutathione

Sulfatase


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Which of the following does N-acetylcysteine replenish?


Cystathionine

Cytochrome P450

Glucuronyl transferase

Glutathione Correct

Sulfatase

Acetylcysteine, the N-acetyl derivative of the naturally occurring amino acid l-cysteine, is a mucolytic agent and

sulfhydryl donor acting as an antidote for paracetamol overdosage.


Oral methionine compared with intravenous n-acetyl cysteine for paracetamol overdose -- Alsalim and

Fadel 20 (4): 366 -- Emergency Medicine Journal

Read article

N-acetylcysteine for prevention of radiocontrast induced nephrotoxicity: the importance of dose and

route of administration -- Shalansky et al. 91 (8): 997 -- Heart

Read article

P-selectin upregulation in bleomycin induced lung injury in rats: effect of N-acetyl-l-cysteine --

Serrano-Mollar et al. 57 (7): 629 -- Thorax

Read article


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Which of the following genetic mutations is responsible for Marfan syndrome?


Collagen

Elastin

Fibrillin

Mircrofilament

Microtubule


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Which of the following genetic mutations is responsible for Marfan syndrome?


Collagen

Elastin

Fibril lin Correct

Mircrofilament

Microtubule

Marfan syndrome occurs due to a mutation in the fibrillin gene.

Most patients, who are prone to develop an aortic aneurysm as a component of Marfan syndrome, can be

identified by detection of mutations in the fibrillin-1 gene.

Patients with the rarer form of Marfan syndrome, which is characterised by contractural arachnodactyly instead

of loose joints, can usually be identified by detection of a mutation in the fibrillin-2 gene that is similar in

structure to the gene for fibrillin-1.

Preliminary data suggest that patients with mutations in the fibrillin-2 gene are not prone to develop

aneurysms.


Muscle fibrillin deficiency in Marfanâ€™s syndrome myopathy -- Behan et al. 74 (5): 633 -- Journal of

Neurology, Neurosurgery Psychiatry

Read article

Fibrillin and the eye -- ASHWORTH et al. 84 (11): 1312 -- British Journal of Ophthalmology

Read article

The molecular genetics of Marfan syndrome and related microfibrillopathies -- Robinson and Godfrey

37 (1): 9 -- Journal of Medical Genetics

Read article


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Genetic linkage of the Marfansyndrome, ectopia lentis, and...www.ncbi.nlm.nih.govwww.ncbi.nlm.nih.gov/pubmed/


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Suppose you are attempting to find a disease-causing gene, and you have identified a number of families in

which the disease is transmitted.

If you have no knowledge of the gene product and no reasonable candidate locus, which of the following would

be the first technique you would be most likely to use?


Denaturing gradient gel electrophoresis (DGGE)

DNA sequencing

Fluorescence in situ hybridisation (FISH)

Linkage analysis

Single strand conformation polymorphism (SSCP) analysis


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Suppose you are attempting to find a disease-causing gene, and you have identified a number of families in

which the disease is transmitted.

If you have no knowledge of the gene product and no reasonable candidate locus, which of the following would

be the first technique you would be most likely to use?


Denaturing gradient gel electrophoresis (DGGE)

DNA sequencing


Linkage analysis Correct


Linkage analysis is correct.

Southern blotting is a laboratory procedure in which DNA fragments that have been electrophoresed through a

gel are transferred to a solid membrane such as nitrocellulose. The DNA can then be hybridised with a labelled

probe and exposed to x ray film.

Somatic cell hybridisation is a physical gene-mapping technique in which somatic cells from two different

species are fused and allowed to undergo cell division. Chromosomes from one species are selectively lost

resulting in clones with only one or a few chromosomes from one of the species.

FISH is a molecular cytogenetic technique in which labelled probes are hybridised with chromosomes and then

visualised under a fluorescence microscope.

SSCP is a technique for detecting variation in DNA sequence by running single-stranded DNA fragments

through a non-denaturing gel. Fragments with differing secondary structure (conformation) caused by sequence

variation will migrate at different rates.


Should children with ADHD and normal intelligence be routinely screened for underlying cytogenetic

abnormalities? -- Stephen and Kindley 91 (10): 860 -- Archives of Disease in Childhood

Read article

High resolution comparative genomic hybridisation in clinical cytogenetics -- Kirchhoff et al. 38 (11):

740 -- Journal of Medical Genetics

Read article

Cancer Cytogenetics: Methods and Protocols -- Chun 57 (1): 111 -- Journal of Clinical Pathology

Read article


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In one gene mapping technique, denatured deoxyribonucleic acid (DNA) from metaphase chromosomes is

hybridised with a radioactively labelled probe. This DNA is then exposed to film to reveal the approximate

chromosomal location of the DNA in the probe.

Which technique does this best describe?



In situ hybridisation


Southern blotting

Somatic cell hybridisation


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In one gene mapping technique, denatured deoxyribonucleic acid (DNA) from metaphase chromosomes is

hybridised with a radioactively labelled probe. This DNA is then exposed to film to reveal the approximate

chromosomal location of the DNA in the probe.

Which technique does this best describe?



In situ hybridisation Correct


Southern blotting

Somatic cell hybridisation

The technique described is 'in situ hybridisation'.

Southern blotting is a laboratory procedure in which DNA fragments that have been electrophoresed through a

gel are transferred to a solid membrane, such as nitrocellulose. The DNA can then be hybridised with a labelled

probe and exposed to x ray film.

Somatic cell hybridisation is a physical gene mapping technique in which somatic cells from two different

species are fused and allowed to undergo cell division. Chromosomes from one species are selectively lost,

resulting in clones with only one or a few chromosomes from one of the species.

FISH is a molecular cytogenetic technique in which labelled probes are hybridised with chromosomes and then

visualised under a fluorescence microscope.

SSCP is a technique for detecting variation in DNA sequence by running single-stranded DNA fragments

through a non-denaturing gel. Fragments with differing secondary structure (conformation) caused by sequence

variation will migrate at different rates.

Further reading:

Glossary of terms American Society of Hematology


Should children with ADHD and normal intelligence be routinely screened for underlying cytogenetic

abnormalities? -- Stephen and Kindley 91 (10): 860 -- Archives of Disease in Childhood

Read article

High resolution comparative genomic hybridisation in clinical cytogenetics -- Kirchhoff et al. 38 (11):

740 -- Journal of Medical Genetics

Read article


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Cytogenetics - Wikipedia, thefree encyclopediaen.wikipedia.orgen.wikipedia.org/wiki/Cytogenetics


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