There are reports of a case of an infant with botulism in Scotland.

“A 16-week-old baby boy is fighting for his life after being diagnosed with botulism.

Logan Douglas was admitted to hospital in Edinburgh where doctors spotted signs of the rare disease and ordered a test.

Health protection experts said there had not been a report of an infant with botulism in Scotland since 1983.”

UK Press Association 4th November

A rapid genome analysis that took only 10 days helped make the correct diagnosis in a critically ill 5 month old Turkish boy.

http://opa.yale.edu/news/article.aspx?id=6988

“In a dramatic illustration of the power of emerging genetic technologies, Yale University researchers have reported making a clinical diagnosis for the first time using comprehensive DNA sequencing of all the protein-coding genes in the genome. The information changed the course of treatment of a baby boy suffering from symptoms of dehydration thousands of miles away in Turkey.

The new approach to DNA sequencing used by Yale researchers and described online Oct. 19 in the Proceedings of the National Academy of Sciences is called whole exome sequencing because it selectively analyzes the 1 percent of the genome that contains genes that code for proteins. This approach has the potential to lead to dramatic new insights into almost every human disease and, as cost of the technology decreases, will be commonly used in clinical settings, predicted Richard Lifton, senior author of the paper and Sterling Professor and chair in the Department of Genetics and professor of internal medicine.”

Autologous stem cell therapy for a diseased heart using an artificial heart to bridge for time has been performed in Greece by an Oxford surgeon.

http://news.bbc.co.uk/1/hi/england/oxfordshire/8274259.stm

“Prof Stephen Westaby, from the John Radcliffe Hospital, led the operation on Ioannis Manolopoulos in Greece.

He used an artificial heart to relieve Mr Manolopoulos’s heart while it was injected with stem cells to help it rebuild itself.

Prof Westaby said it was thought to be the first time both had been combined.”

A case series of YouTube sporting injuries has identified what could be a useful clinical sign for sports coaches. The ‘fencing response’ (tonic posturing) is an immediate sign and is associated with moderate head injury. It seems to be a separate entity from convulsions, which may also occur, and since it is a clinical sign that is quite easily recognised, it can help direct care after the injury.

Hosseini, AH. Lifshitz, J. Brain Injury Forces of Moderate Magnitude Elicit the Fencing Response. Medicine & Science in Sports & Exercise: September 2009 - Volume 41 - Issue 9 - pp 1687-1697

A young woman with severe H1N1 pneumonitis who was previously neutropenic with chemotherapy for Hodgkin’s disease has responded to intravenous zanamivir (Relenza) and methylprednisolone. Her case is reported in the Lancet.¹

Although the use of intravenous zanamivir is unlicensed it exists and is being studied as part of a clinical trial² (with oral Oseltamivir) in humans and others have investigated its use in experimental influenza³. The clinical team had to apply to their hospital formulary, seek consent from relatives and source the treatment directly from GSK. Since the most severe cases of H1N1 pneumonitis are likely to be ventilated it would make sense to gain experience with intravenous antivirals.

The interesting point in this case is the combination of intravenous zanamivir with methylprednisolone in a severe case of H1N1 influenza in a patient with neutropenia. The authors suggest that this warrants further study.

1) Kidd IM, Down J, Nastouli E, Shulman R, Grant PR, Howell DCJ, Singer M. H1N1 pneumonitis treated with intravenous zanamivir. The Lancet, Early Online Publication, 4 September 2009.

2) Pukrittayakamee S. Phase 1, Open-Label Study to Evaluate Potential Pharmacokinetic Interactions Between Orally-Administered Oseltamivir and Intravenous Zanamivir in Healthy Thai Adult Subjects. ClinicalTrials.gov identifier NCT00921726

3) Beigel J, Bray M. Current and future antiviral therapy of severe seasonal and avian influenza. Antiviral Res. 2008 Apr;78(1):91-102. Epub 2008 Feb 4.

News reports of the mother of Calvino Inman desperately looking for doctors that have experience of managing patients with “bloody tears” have been reported over the last few days treating the condition as a medical mystery. (Thanks to CasesNetwork for Tweeting!).

nydailynews.com

thisislondon.co.uk

dailymail.co.uk

However, it seems that she should go no further than her home state of Tennessee where doctors published a case series of this condition only a few years ago.

Ho VH, Wilson MW, Linder JS, Fleming JC, Haik BG. Bloody tears of unknown cause: case series and review of the literature. Ophthal Plast Reconstr Surg. 2004 Nov;20(6):442-7.

Do doctors read the literature these days? I’m sure they do but they probably do not search effectively. Putting ‘blood tears’ into PubMed gives a lot of links to Mallory-Weiss tears which is very different from the search ‘bloody tears’. (Internet search engines give very poor results to either search other than finding the news stories of this particular case.)

This is a common theme in case reports where a particular case is thought to be unique but it is only because the other cases have been published with a different name. Unfamiliar cases have unfamiliar language. If you were familiar with the term haemolacria (which I wasn’t) then searching would be much easier but you’d probably already be an expert!

A pseudo-fovea develops in the gene-therapy treated eye of a patient in a Leber’s Congenital Amaurosis trial. The authors show analysis of this region of cone function outside the fovea and compares it with the early fovea gain seen in the other patients in the trial.

“The unexpected late emergence of visual gain in [this] patient to spatially coded and sustained stimuli and a coincident change in preference for fixation from the fovea to the treated retinal region suggest a slow development of a pseudo-fovea and an underlying experience-dependent plasticity of the adult visual system. These results raise the possibility that this gene-based therapy may further improve visual function in an unexpected and useful way in previously untreatable congenital blindness.”¹

1) Cideciyan AV, Hauswirth WW, Aleman TS, Kaushal S, Schwartz SB, Boye SL, Windsor EA, Conlon TJ, Sumaroka A, Roman AJ, Byrne BJ, Jacobson SG. Vision 1 year after gene therapy for Leber’s congenital amaurosis.  N Engl J Med. 2009 Aug 13;361(7):725-7.

Not a full case report or a medical first but it is the first patient in a phase 1 trial of this intriguing, light-activated chemotherapy drug in children with plexiform neurofibromas.

“Light Sciences Oncology, Inc. (LSO) today announced the treatment of the first patient in an investigator-sponsored Phase 1 pediatric study of its novel light-activated drug Aptocine™ (talaporfin sodium) in neurofibromatosis type 1 (NF-1). Investigators at the Neurofibromatosis/Neuro-Oncology Clinic of Children’s Hospital of Philadelphia (CHOP) treated a pediatric patient with NF-1 and plexiform neurofibromas (PN) using Aptocine, which is also in late-stage development for solid tumors. The Neurofibromatosis/Neuro- Oncology Clinic is a program providing care and treatment for children with brain tumors and children with NF-1 and severe and/or life-threatening tumors.”

http://www.lsoncology.com/press_releases/release/pr_1250033310

“Heart transplant recipient (Tony Huesman) who lived a record 31 years with a single donated organ has died at age 51 of cancer, his heart still going strong, his widow said.”

Associated Press 12th August 2009

When he received the heart transplant in 1978 he was told he may have had 5 years to live. Since then survival has improved but graft survival is usually no more than 15 years¹ which makes Mr Huesman’s achievement all the more unique.

1) Dayton JD, Kanter KR, Vincent RN, Mahle WT. Cost-effectiveness of pediatric heart transplantation. J Heart Lung Transplant. 2006 Apr;25(4):409-15. Epub 2006 Feb 8.

Recently noticed this claim. “NEW YORK (Reuters) - After relying on a pacemaker for 20 years, Carol Kasyjanski has become the first American recipient of a wireless pacemaker that allows her doctor to monitor her health from afar — over the Internet.”

http://www.reuters.com/article/healthNews/idUSTRE5790AK20090811

(Strangely it became a World first when taken up by Yahoo! http://news.yahoo.com/s/nm/20090810/lf_nm_life/us_pacemaker_2)

“Dr. Steven Greenberg, the director of St. Francis’ Arrhythmia and Pacemaker Center, said the new technology helps him better treat his patients and will likely become the new standard in pacemakers.

He said the server and the remote monitor communicate at least once a day to download all the relevant information and alert the doctor and patient if there is anything unusual.

“If there is anything abnormal, and we have a very intricate system set up, it will literally call the physician responsible at two in the morning if need be,” he said.

The wireless pacemaker, made by St. Jude Medical Inc., received FDA approval in July.”

That sounds great … but it certainly isn’t much of a first other than for the St Francis’ centre.

At BMJ Case Reports we published a case of a web-connected implantable cardioverter defibrillator detecting digoxin toxicity a few months ago. That case report cites a paper that evaluated a German system where “devices have an embedded antenna for wireless transmissions of diagnostic information to a Service Center where messages are decrypted, stored as well as loaded on a protected website accessible to the attending physician through identity codes and a personal password“.

A so-called medical breakthrough story changes in the telling.

The Reuter’s story starts:

“NEW YORK (Reuters) - After relying on a pacemaker for 20 years, Carol Kasyjanski has become the first American recipient of a wireless pacemaker that allows her doctor to monitor her health from afar — over the Internet.” Reuters original

but has been misquoted by Yahoo! News as

“NEW YORK (Reuters) – After relying on a pacemaker for 20 years, Carol Kasyjanski has become the world’s first recipient of a wireless pacemaker that allows her doctor to monitor her health from afar — over the Internet.” Yahoo!’s misquoted version

‘First American’ becomes ‘World’s first’. Yahoo! News says it “does not write or edit any of the news on our site.” So I wonder how it got changed?

Are news websites in the best position to judge medical firsts?