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Cases in the news

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

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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.

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

Australian boy is first to receive ‘artificial pancreas’ insulin pump

26 Jan, 15 | by Dr Dean Jenkins

Xavier Hames is a four year old boy with Type 1 diabetes and he has been fitted with an insulin pump that senses glucose levels and stops insulin – a step closer to an ‘artificial pancreas’. An artificial pancreas adds a glucose sensor to an insulin pump so that it can sense when to reduce or stop insulin to avoid hypoglycaemia. More sophisticated devices are being developed to improve the management of people requiring insulin.

Xavier’s story has been widely reported in the news:

“Diabetes breakthrough hailed as Australian boy given artificial pancreas” http://www.theguardian.com/society/2015/jan/21/australian-boy-given-artificial-pancreas-to-help-manage-type-1-diabetes

“World-first insulin pump for diabetic Perth boy Xavier Hames” http://www.abc.net.au/news/2015-01-21/perth-boy-becomes-first-patient-fitted-with-artifical-pancreas/6032388

“Four-year-old Perth boy Xavier Hames has become the first patient in the world to receive an artificial pancreas as part of his routine diabetic care.” https://lockerdome.com/biosolutionscorp/7346894150058004

“A four-year-old Australian boy has been fitted with an artificial pancreas in what researchers said was a world first treatment for managing type 1 diabetes.” http://medicalobserverph.com/features-australian-boy-4-gets-world-first-artificial-pancreas/

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Complex composite odontoma and World Record teeth

24 Jul, 14 | by Dr Dean Jenkins

The case of Ashik Gavai from India has been widely reported in the press.

India doctors remove 232 teeth from boy’s mouth (BBC News)

The Indian boy who had a ‘world record’ 232 teeth (Washington Post)

Chew on that. 232 teeth removed from boy’s mouth (Mumbai Mirror)

F3.large

Image of Odontoma from BMJ Case Reports 2012

He presented with a rare condition called complex composite odontoma and the photographs accompanying the news reports highlight the surgical findings and the bloody result of the marathon extraction of multiple ‘teeth’.

The usual presentation is by the odontoma being picked up on a routine X-ray but on this occasion the young Indian boy presented with gross swelling of the jaw.

Learn more about them at BMJ Case Reports

Astekar M, Manjunatha BS, Kaur P, Singh J. Histopathological insight of complex odontoma associated with a dentigerous cyst. BMJ Case Rep. 2014 Jan 31;2014. pii: bcr2013200316. doi: 10.1136/bcr-2013-200316.

Agrawal B, Gharote H, Nair P, Shrivastav S. Infected complex odontoma: an unusual presentation. BMJ Case Rep. 2012 Aug 24;2012. pii: bcr2012006493. doi: 10.1136/bcr-2012-006493.

Gupta A, Vij H, Vij R, Malhotra R. An erupted compound odontoma. BMJ Case Rep. 2014 Apr 12;2014. pii: bcr2013201820. doi: 10.1136/bcr-2013-201820.

Too young for cancer. Case in the media highlights challenge of diagnosis

28 May, 14 | by Dr Dean Jenkins

The case of a 29 year old scientist who died of bowel cancer has been highlighted in the press because her brother is planning to raise funds for the World Cancer Research Fund.

A doctor who was told she was too young to get bowel cancer died after being sent home and misdiagnosed with bowel disease.” Doctor, 29, died of cancer after being told she was too young to have disease. Daily Telegraph, May 27th 2014

After suffering from stomach pains so severe she was forced to miss part of her brother’s wedding day, Suzanne was initially told by doctors she could not be suffering from bowel cancer as she was so young. She was instead diagnosed with an inflammatory bowel condition.” Tragic former Chatham pupil Dr Suzanne Gould died of bowel cancer after being told she was too young to have disease. Kent Online May 27th 2014

Tragic Suzanne Gould badgered family doctors for six months because of severe stomach pain but was told she had Crohn’s disease. In fact, she had terminal bowel cancer and died 18 months later.”  Brother of tragic doctor ‘too young for cancer at 29’ to raise money in her memory. Daily Express, May 28th 2014.

In 2012, my sister Suzanne, started to have bad stomach pains and other ailments. The doctors refused to believe she had bowel cancer because she was too young, however in November 2012 she was rushed to A&E where a cancerous tumor was removed, and her fight to get better began.” Rob Newton’s JustGiving page.

PhD, married, with kitten called Poppy, fighting bowel cancer previously misdiagnosed as Crohns disease. Hoping to raise awareness in the relatively young” @Dr_SooziG Twitter profile.

These types of cases – and others reported in BMJ Case Reports(1,2,3) – of younger patients presenting with symptoms where the underlying cause is malignancy are a challenge for diagnosis and there is no simple way of addressing it. Clinical examination may be normal which may lead the practitioner to be less likely to investigate. “Raising awareness” is often a phrase that is mentioned when these cases are presented at medical meetings. It helps, but by itself it doesn’t seem sufficient. Fine-tuning your “Index of suspicion” is something that can be achieved by reading more case reports … and seeing more, listening to and learning from patients in your clinical practice.

1. Raghunath Prabhu, Neha Kumar, Sunil Krishna, Rajgopal Shenoy. Primary colonic signet ring cell carcinoma in a young patient. BMJ Case Reports 2014:published online 20 March 2014, doi:10.1136/bcr-2013-200587

2. Syed Tausif Ahmed, Sudipto Kumar Singh, Tanmoy Mukherjee, Manju Banerjee. Breast carcinoma in a prepubertal girl. BMJ Case Reports 2014:published online 15 April 2014, doi:10.1136/bcr-2013-203251

3. Anna Freeman, David Weeden, Jane Wilkinson, Ramesh J Kurukulaaratchy. An unusual bronchial obstruction in a fit young man. BMJ Case Reports 2013:published online 9 January 2013, doi:10.1136/bcr-2012-007766

Unusual foreign bodies

25 Jul, 13 | by Dr Dean Jenkins

Interesting case of a bronchial obstruction from a germinating pea has resurfaced.

Only in America: Pea plant grows inside man’s lung (Hospital Doctor)

… but the case is an old one from 2010.

Pea plant grows inside man’s lung (BBC Health)

Doctor finds plant growing inside man’s lung (WHDH News)

Pea sprout plucked from Cape man’s lung (boston.com)

However, it is always good to be reminded of clinical lessons especially where the cause is as clearly identified as here. There are reversible causes of bronchial obstruction in the older person and lung cancer should not be assumed without further evaluation.

A very unique cyclist

18 Jun, 13 | by Dr Dean Jenkins

Cyclist Tom Staniford from Exeter has a particularly rare form of Type 2 diabetes associated with absent subcutaneous fat and hearing loss.

“Although he was born a normal weight, he lost all the fat around his face and limbs during his childhood, and yet his body still thinks he is obese, meaning he has type 2 diabetes. His hearing also deteriorated when he was 10 and he has worn hearing aids since.

Staniford’s condition had never been identified – until recently, when a research team set about mapping and analysing his DNA to pinpoint the precise gene mutation responsible.

Finally, Staniford has discovered he is one of just eight people in the world with MDP syndrome.”

http://www.bbc.co.uk/news/health-22903537

Lucky then that he lives in a city with one of the world’s leading research centres for genetic forms of diabetes as his case was investigated by Andrew Hattersley’s team at Exeter University [1]. Hopefully with recognition of his condition suitable arrangements can be made for his paracycling competitions.

Tom Staniford Paracyclist

1. Weedon MN, Ellard S, Prindle MJ, Caswell R, Allen HL, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O’Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT. An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nat Genet 2013 Jun;advance online publication Available from: http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.2670.html

Case report of Fibrous Dysplasia 120,000 years post mortem

6 Jun, 13 | by Dr Dean Jenkins

PLoS One has published archeological evidence of a possible primary rib cancer in a Neanderthal era human from over 120,000 years ago. (1)

This, clearly, is a very long time to wait for the publication of a case report!

The authors provide photographic and radiographic evidence of the tumour and presume it to be a primary bone tumour – fibrous dysplasia, “a benign disease of bone with rare potential for malignant transformation” (2). They go on to discuss the possible environmental factors associated with this type of abnormal growth / malignancy and that tumours can occur in the unpolluted environment of our ancient human ancestors.

 

1. Monge J, Kricun M, Radovčić J, Radovčić D, Mann A, Frayer DW. Fibrous Dysplasia in a 120,000+ Year Old Neandertal from Krapina, Croatia. PLoS ONE 2013 Jun;8(6):e64539. Available from: http://dx.doi.org/10.1371/journal.pone.0064539

2. Riddle ND, Bui MM. Fibrous dysplasia. Arch. Pathol. Lab. Med. 2013 Jan;137(1):134–138. Available from: http://www.ncbi.nlm.nih.gov/pubmed/23276185

Primary prophylaxis of pulmonary embolus with retrievable IVC filter

4 Mar, 13 | by Dr Dean Jenkins

Announced in the news today was the case of Doreen Carter who had an inferior vena cava filter inserted as an alternative for prophylaxis against thromboembolism.

http://www.bbc.co.uk/news/uk-england-berkshire-21655038

She was due to have bowel surgery and, presumably, was deemed too high risk for anticoagulation. The titanium device was also designed to be easily removed.

“Dr Carl Waldmann, a consultant at the hospital, said giving post-operative patients anti-clotting drugs can be risky, and existing measures to catch clots also carry risks because they are difficult to insert and remove.”

As the IVC filter devices and deployment skills have improved, especially of retrievable devices [1], there has been debate over when they should be used. [2]

 

1. Johnson MS, Nemcek AA Jr, Benenati JF, Baumann DS, Dolmatch BL, Kaufman JA, Garcia MJ, Stecker MS, Venbrux AC, Haskal ZJ, Avelar RL. The safety and effectiveness of the retrievable option inferior vena cava filter: a United States prospective multicenter clinical study. J Vasc Interv Radiol 2010 Aug;21(8):1173–1184.Available from: http://www.ncbi.nlm.nih.gov/pubmed/20598570

2. Wehrenberg-Klee E, Stavropoulos SW. Inferior vena cava filters for primary prophylaxis: when are they indicated? Semin Intervent Radiol 2012 Mar;29(1):29–35.Available from: http://www.ncbi.nlm.nih.gov/pubmed/23450194

 

Clinton’s ‘blood clot’ – an MRI and media challenge.

1 Jan, 13 | by Dr Dean Jenkins

So it turns out that Hillary Clinton, US Secretary of State – who has visited more countries in office than any other – developed a right transverse sinus venous thrombosis.

http://www.state.gov/r/pa/prs/ps/2012/12/202419.htm

Previously it was just called a ‘blood clot’ requiring ‘hospital’ and ‘blood thinners’. This followed a day of intense speculation in the media which included thousands of webpages, social media messages and, presumably many hours of broadcast TV and radio, talking over where the ‘blood clot’ was. If it were a DVT then why should she spend so much time in hospital? Some more unusual type of ‘blood clot’ was obviously the cause but no details were being released.

She had a routine MRI scan following ‘concussion’ and her doctors were keen to point out that “It did not result in a stroke, or neurological damage”.

For a potential future presidential candidate this must have caused quite a challenge. You need to quickly let people know that your health is assured and you are being cared for but telling the public that you have a clot near your brain is not what they may want to here. Transparency is important but communicating unusual medical conditions can be difficult.

Now everyone will be an expert in transverse sinus venous thrombosis.

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