Medical laboratory science
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A blood test breast cancer




They found a promising-looking signature in the women’s white blood cells that was linked to their chance of developing cancer. But what about women who didn’t carry a faulty BRCA1 gene?
When they looked at larger studies for this signature in women who didn’t carry a BRCA1 fault, they found that the signature appeared in the blood of women who went on to develop the disease.
This strongly suggests there’s something in these women’s blood that could be used to help work out their chance of breast cancer in later life. But – crucially – it also throws up several questions:
What is this a signature of?
Why is it in white blood cells?
How long before breast cancer develops does it appear?
Why does it appear?
Is it an early sign of a cancer itself, or of an underlying process that precedes the disease?
How is it affected by other things that affect breast cancer risk, like bodyweight and age?
All of these questions – and more – need to be answered before we can start talking about β€˜tests’ available on the NHS.
A simple blood test is currently in development that could help predict the likelihood of a woman developing breast cancer, even in the absence of a high-risk BRCA1 gene mutation, according to research published in the open access journal Genome Medicine.
Researchers from UCL identified an epigenetic signature in the blood of women predisposed for breast cancer owing to an inherited genetic mutation of the BRCA1 gene. Epigenetic alterations are thought to be key molecular switches that are involved in the development of cancer. Strikingly, the same signature was discovered in the blood of women without a BRCA1 mutation but who went on to develop breast cancer, making it a potential early marker of women’s cancer in the general population.
BRCA1 mutation is inherited from a parent, and is the cause of at least ten percent of breast cancers. The cause of the remaining 90% of sporadic breast cancers in non-mutation carriers remains to be explained. Scientists are beginning to understand that genetic mutations are not the sole contributors to disease development and that the way in which genes are arranged in our cells can affect whether they function appropriately – that is, whether they are turned on or off. The arrangement and expression of our genes is overseen by the process of epigenetics. One of the most studied epigenetic mechanisms is a process called DNA methylation, which was the focus of the current study.
In this study, researchers used blood samples collected several years before breast cancer development from two large UK cohorts of women – the MRC National Survey of Health and Development and the UK Collaborative Trial of Ovarian Cancer Screening. They looked at the DNA methylation signature from blood of those women with and without BRCA1 mutations. When this signature was applied to samples from both these groups, those women who developed non-hereditary cancers were found to have the same DNA methylation signature.
Professor Martin Widschwendter, the study’s lead author and Head of University College London’s Department of Women’s Cancer says: β€œWe identified an epigenetic signature in women with a mutated BRCA1 gene that was linked to increased cancer risk and lower survival rates. Surprisingly, we found the same signature in large cohorts of women without the BRCA1 mutation and it was able to predict breast cancer risk several years before diagnosis.”
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Most common species of pseudomonas associated with
intravascular catheter is Pseudomonas Aeruginosa.
Intravascular catheter related infections
Indwelling vascular catheters are a leading source of bloodstream
infections.
Amongst indwelling vascular catheters, central venous catheters are
the most common culprits.
Pathogenesis
There are four potential sources for catheter related infections ?
1) The skin insertion site
2) The catheter hub
3) Hematogenous seeding from a distant infection
4) Contaminated infusate
The skin insertion site and the catheter hub are by for the two most
important sources.
Approximately 65% of catheter related infections originate from the
skin flora, 30% from the contaminated hub and 5% from other pathways.
For short term catheters, skin contamination is the most likely
mechanism of pathogenesis.
On the other hand, for long term catheters, hub contamination is
more .
frequent because such catheters often have to be intercepted
and manipulated.
Skin organisms migrate from the skin insertion site along the
external surface of catheter, colonizing the distal intravascular tip of
the catheter, and ultimately causing blood-stream infection. On the
other hand, in hub related infections, organisms are usually
introduced into the hub from the hands of medical personnel and the
organisms migrate along the internal surface of the catheter, where
they can cause a bloodstream infection.
Microbiology
Most of the micro-organisms implicated in CRIs arise from the skin
flora.
Staphylococci are the most frequently isolated pathogens,
paricularly coagulase-negative staphylococci
Etiology of catheter related infection
Microorganism Percentage
β€’ Coagulase negative
staphylococci
30 - 40
β€’ Staph aureus 5 - 10
β€’ Enterococci 4 - 6
β€’ Candida spp. 3 - 6
β€’ Pseudomonas
aeruginosa
2 - 5
β€’ Enterobacter spp 1 - 4
β€’ Acinetobacter spp. 1 - 2
β€’ Serratia spp. <1
β€’ Others < 1 - 5
Test : Vitamin B12/ Anti-pernicious anemia factor/ Cyanocobalamin




Indications : The test is used to detect Vitamin B12 deficiency as in pernicious anemia in those patients who have hematologic symptoms – weakness, anemia, hyper-segmented neutrophils, leucopenia, or Neurologic – numbness, tingling, loss of vibratory sensation.
Physiology : Cyanocobalamin analogues from the base compound in coenzymes having important biologic functions. Vitamin B12 is not synthesized by humans. It is a requisite dietary component widely available in animal products. The minimum daily requirement is 1-5 Β΅g/day, body stores are 2000-5000 Β΅g. Vitamin B12 is absorbed by microvilli of the ileum a pH and divalent cation dependent process.
Normal Range : 100-250 pg/mL (74-185 pmol/L)
Interpretation : Vitamin B12 is low in hypochlorhydria, pernicious anemia, intestinal absorption, inflammatory bowel disease, bacterial infection. Diphyllobothrium fish tapeworm, intestinal surgery, oral contraceptives, increase in red blood cell volume. Vitamin B12 is increased in chronic granulocytic leukemia, chronic renal failure, severe congestive heart failure, diabetes, obesity and liver cell damage.
Test Method: Radioimmunoassay (RIA)
Related Tests : Complete Blood Count, Folic Acid, Hemoglobin, Intrinsic Factor Antibody, Red Blood Cell Indices, Schilling Test
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