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Archive for April, 2015

Genetically-modified embryos

25 Apr, 15 | by Dr Dean Jenkins

This isn’t a case as such but it is early work on human embryos exploring the technique of gene editing.

“The prospect of genetically engineering humans has come a step closer, with the publication of the first paper to describe efforts to modify embryos. There is a long way to go before we can safely tinker with our genes, but at least one group in the US and four in China are aiming to edit human embryos: this will be the first of many studies.”

http://www.newscientist.com/article/dn27402-first-human-embryos-genetically-modified–more-will-come.html

dn27402-1_300

This modification was achieved by ‘editing’ the DNA using a technique called the CRISPR.

“However, the efficiency of homologous recombination directed repair (HDR) of HBB was low and the edited embryos were mosaic. Off-target cleavage was also apparent in these 3PN zygotes as revealed by the T7E1 assay and whole-exome sequencing.”

Screenshot from 2015-04-25 21:37:39

This technique holds promise for genetic diseases such as cystic fibrosis.

Breast pain in a patient on dialysis

24 Apr, 15 | by Kristy Ebanks

Calcific uremic arteriolopathy

We have some very interesting images for you but, can you answer the questions below?

buscher_4 buscher_3 buscher_2

1. What are the indications for dialysis?
2. What are the complications of dialysis?
3. What is calcific uremic arteriopathy?

If you don’t know the answers or want to know more read ’Breast pain in a patient on dialysis: a rare manifestation of calcific uremic arteriolopathy

Acquired savant syndrome

18 Apr, 15 | by Dr Dean Jenkins

Following a head injury whilst skiing an anonymous US lady now complains of remembering too much.

I could remember everywhere, like flicking through the pages of a book. Every place I had ever been, but specifically the buildings.

http://www.xojane.com/it-happened-to-me/acquired-savant-sydnrome

The lady goes on to say that her neurologist is considering writing up her case. I wonder if it will be submitted here?

The story has been reported in the press:

Woman claims ski accident has given her extraordinary mental powers (Independent)

‘A ski accident left me with advanced mental abilities’: US woman tells her extraordinary story (Telegraph)

Picture of skiier

The Case of an ACL deficient knee

9 Apr, 15 | by Kristy Ebanks

Anterior Drawer test in an ACL deficient knee

We have some very interesting images for you but, can you answer the questions below?

ant_draw_1

1. What is the anterior draw test?
2. What do you see in these figures?
3. How else might the ACL be tested?

If you don’t know the answers, want to see a video or want to know more read ’Patient self-demonstration of the Anterior Drawer test in an ACL deficient knee

A rare but potentially fatal cause of diarrhoea and weight loss

2 Apr, 15 | by Kristy Ebanks

Enteropathy associated T-cell Lymphoma

We have some very interesting images for you but, can you answer the questions below?

Figure_2 (3) Figure_3 Figure_4 (1)

1. Diarrhoea can kill – under what circumstances may diarrhoea be fatal?
2. What types of enteropathy do you know?
3. How would you manage life-threatening diarrhoea due to a range of causes?
4. How would the different causes affect your management?

If you don’t know the answers or want to know more read ’A rare but potentially fatal cause of diarrhoea and weight loss: Enteropathy associated T-cell Lymphoma

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