Wednesday, 30 November 2011

e.coli- Extended Spectrum Beta Lactamase e. coli 'not from Singleton Hospital

Singleton Hospital's maternity unit is still open for full-term births

A mother suspected to have contracted an E. coli strain at a maternity unit where two premature babies have died did not pick up the bug at the hospital, say health chiefs.

Her case was initially one of two investigated at Singleton Hospital's maternity and neonatal unit.

Tests now show the mother was carrying a different ESBL E. coli sub-type.

The other case was a premature baby who died after contracting the strain at the unit.

Abertawe Bro Morgannwg (ABM) University Health Board, which runs the hospital, said a second baby who died at the unit had contracted ESBL E. coli elsewhere.

ABM announced on Friday a third baby had tested positive but showed no symptoms.

Tests are under way to see if that baby has the same sub-type as the cross-infection, or whether it is unconnected.

What is ESBL E. coli?

ESBL E. coli is not the same as the E. coli O157 which causes food poisoning
ESBL stands for Extended Spectrum Beta Lactamase
ESBL E. coli is most often found in the gastrointestinal tract but may cause urinary tract infections
ESBL E. coli is resistant to commonly-used antibiotics such as penicillin, but can be treated
In most people ESBL E. coli does not cause harm but in vulnerable individuals it can cause serious infections
Source: ABM health board

ABM said in a statement: "While these tests are under way, as a continuing precaution, the neonatal unit is restricted to routine admission for babies over 36 weeks' gestation only.

"We are also taking additional precautions, including restricting visitors to the maternity unit and continuing to ask visitors to wash their hands and use hand hygiene gel."

Two other people in the maternity unit were also found to have been infected, but contracted it outside the hospital.

Officials have stressed that ESBL E. coli is not the same as E. coli O157 which causes food poisoning.

They say a very small proportion of people carry ESBL E. coli harmlessly in their body.

ABM added: "Our investigations into the cross infection have not yet identified how the ESBL E. coli was transmitted, but we continue to do all we can to determine the cause.

"However, in other similar instances of this kind elsewhere in the UK the cause of transmission was never identified."

no to eye drug Lucentis for diabetes

Watchdog NICE says no to eye drug Lucentis for diabetes

westof diabetes

The drug is injected into the patient's eye

A drug that could save the sight of people with diabetes will not be made available on the NHS in England and Wales, an advisory body has concluded.

The National Institute for Health and Clinical Excellence (NICE) says ranibizumab, sold under the brand name Lucentis, is too expensive to use in people with diabetic macular oedema.

Charities say they will continue to campaign for the drug to be used.

At least 50,000 people in the UK are affected by this eye condition.

Sight saver

Macular oedema occurs when fluid leaks from the small blood vessels in the eye.

The fluid collects in the central part of the retina at the back of the eye, called the macular area, which can lead to severe visual impairment.

“

Straight lines may appear wavy and people can have blurred central vision or sensitivity to light.Sight can become so impaired that the person can no longer read, work or drive.Laser treatment has been the standard treatment for diabetic macular oedema on the NHS, but this only stops vision from deteriorating further.

An injection of Lucentis in the eye, however, can improve vision.

NICE already recommends Lucentis to the NHS for a different eye condition called wet age-related macular degeneration.

An eye examination can reveal the problem

Four UK charities - Diabetes UK, the Juvenile Diabetes Research Foundation, the Macular Disease Society and the Royal National Institute of Blind People (RNIB) - are urging government to rapidly agree a Patient Access Scheme with the manufacturer of Lucentis, Novartis, in order to bring down the cost of the drug to the NHS for treating diabetic macular oedema.

Currently, the drug costs £742.17 per injection.

Steve Winyard from the RNIB said: "We now hope that a patient access scheme can be agreed swiftly, so that patients with diabetic macular oedema are not left to needlessly lose their sight."

A spokeswoman for Novartis said the company would continue to work with NICE and the Department of Health to "ensure appropriate patients are able to receive this very important treatment, which in clinical trials has been shown to double the likelihood of gaining vision and reduce the chance of losing vision by up to three-fold compared to laser treatment".

Novartis believes that NICE did not consult sufficiently with clinical and patient experts on the data it submitted to the appraisal committee.

But Sir Andrew Dillon, Chief Executive at NICE, said the manufacturer significantly underestimated the cost of treatment.

Tuesday, 29 November 2011

Timothy syndrome

Timothy syndrome mengele-westof

From Wikipedia, the free encyclopedia

Timothy syndrome
Classification and external resources
OMIM	601005
DiseasesDB	34006

Timothy syndrome is a rare autosomal dominant disorder characterized by physical malformations, as well as neurological and developmental defects, including heart QT-prolongation, heart arrhythmias, structural heart defects, syndactyly (webbing of fingers and toes) and autism spectrum disorders.

Timothy syndrome often ends in early childhood death.

[hide]

[edit]Signs and symptoms

The most striking sign of Timothy syndrome is the co-occurrence of both syndactyly (~0.03% of births) and long QT syndrome (1% per year) in a single patient. Other common symptoms of Timothy syndrome are cardiac arrhythmia (94%), heart malformations (59%), autism or an autism spectrum disorder (80% who survive long enough for evaluation). Facial dysmorphologies such as flattened noses also occur in approximately half of patients. Children with this disorder have small teeth which, due to poor enamel coating, are prone to dental cavities and often require removal. The average age of death due to complications of these symptoms is 2.5 years.^[1]^[2]^[3]

Atypical Timothy syndrome has largely the same symptoms as the classical form. Differences in the atypical form are the lack of syndactyly, the presence of musculoskeletal problems (particularly hyperflexible joints), and atrial fibrillation. Patients with atypical Timothy syndrome also have more facial deformities, including protruding foreheads and tongues. Finally, one patient with atypical Timothy syndrome had a body development discrepancy wherein her upper body was normally developed (that of a 6-year-old) while her lower half resembled a 2- or 3-year-old.^[4]

Children with Timothy syndrome tend to be born via caesarean section due to fetal distress.^[1]^[2]

[edit]Diagnosis

Syndactyly and other deformities are typically observed and diagnosed at birth. Long QT syndrome sometimes presents itself as a complication due to surgery to correct syndactyly. Other times, children collapse spontaneously while playing. In all cases it is confirmed with ECG measurements. Sequencing of the CACNA1C gene further confirms the diagnosis.

[edit]Pathophysiology

Timothy syndrome has an autosomal dominant pattern of inheritance.

There are two recognized types of Timothy syndrome, classical (type-1) and atypical (type-2). They are both caused by mutations in CACNA1C, the gene encoding the calcium channel Ca_v1.2 α subunit. Timothy syndrome mutations in CACNA1C cause delayed channel closing and, thus, increased cellular excitability.

Both classical and atypical Timothy syndromes are caused by mutations in CACNA1C. These mutations are in exon 8 (atypical form) and exon 8a (classical form), an alternatively spliced exon. Exon 8a is highly expressed in the heart, brain, gastrointestinal system, lungs, immune system and smooth muscle. Exon 8 is also expressed in these regions and its level is approximately 5-fold higher than exon 8a expression.

There is one mutation found in patients with classical Cack syndrome, G406R, located just past the 6th membrane spanning segment of domain 1 (D1S6). The conserved glycine at this position seems to be vital for proper voltage dependent inactivation as the mutant is lacking in this respect.^[3] Atypical Timothy syndrome mutations are similar, one being the identical G406R mutation in the other splice form and the second mutation being G402S, located a few amino acids upstream. The affect of these mutations on channel function is identical to the G406R mutation in classical Timothy syndrome.^[4] The lack of proper voltage-dependent inactivation in these mutants causes prolonged inward current and depolarization during cardiac action potentials. This leads to long QT syndrome and resultant arrhythmia. Because exon 8 has greater expression in the heart versus exon 8a, patients with atypical Timothy syndrome have worsened cardiac defects compared to those with the classical form.

[edit]Treatment

Surgery is typically used to correct structural heart defects and syndactyly. Propanolol or beta-adrenergic blockers are often prescribed as well as insertion of a pacemaker to maintain proper heart rhythm. With the characterization of Timothy syndrome mutations indicating that they cause defects in calcium currents, it has been suggested that calcium channel blockers may be effective as a therapeutic agent.^[4]

[edit]Prognosis

The prognosis for patients diagnosed with Timothy syndrome is very poor. Of 17 children analyzed in one study, 10 died at an average age of 2.5 years. Of those that did survive, 3 were diagnosed with autism, one with an autism spectrum disorder, and the last had severe delays in language development.^[3] One patient with atypical Timothy syndrome was largely normal with the exception of heart arrhythmia.^[4] Likewise, the mother of two Timothy syndrome patients also carried the mutation but lacked any obvious phenotype. In both of these cases, however, the lack of severity of the disorder was due to mosaicism.

[edit]History

Some of the abnormalities observed in Timothy syndrome were described in the 1990s. However, it was linked with calcium channel abnormalities in 2004, and the disorder was thence named "Timothy syndrome" in honor of Dr. Katherine W. Timothy, who was among the first to identify a case and performed much of the phenotypic analysis that revealed other abnormalities.^[3]

[edit]See also

[edit]External links

Monday, 28 November 2011

light on autism

Brain find sheds light on autism mengele-westof

The researchers hope to gain insights into autism

Cells taken from people with a rare syndrome linked to autism could help explain the origins of the condition, scientists suggest.

The Stanford University team turned skin cells from people with "Timothy syndrome" into fully-fledged brain cells.

The abnormal activity found in these cells could be partially corrected using an experimental drug, Nature Medicine reports.

UK researchers warned the findings might not apply to everyone with autism.

Compared with the hundreds of thousands of people worldwide thought to show characteristics of autism, "Timothy syndrome" is vanishingly rare, affecting an estimated 20 people across the planet.

People who have the syndrome frequently display autistic behaviour, such as problems with social development and communication.

Because it is caused by a single gene defect rather than a combination of small genetic flaws, each making a tiny contribution, it presents a useful target for scientists looking to examine what goes wrong in the developing brain of a child with autism.

Ready for work

The US researchers used a technique developed recently to generate brain cells called neurons from only a sample of the patient's skin.

This allowed them to examine their development in the laboratory, and even use them to test out possible treatments.

They found obvious differences between neurons grown from Timothy syndrome patients, and those from healthy "control" subjects.

The healthy neurons developed into different subtypes, ready for work in different regions of the brain.

In contrast, the proportion of neurons developing into each subtype was different in the Timothy syndrome samples - more were equipped to work in the upper part of the cerebral cortex, and fewer in the lower part.

This meant there were fewer neurons equipped to work in a part of the brain called the corpus callosum, which has the role of helping the left and right "hemispheres" of the brain communicate.

These differences echoed those already observed in mice specially bred with the Timothy syndrome genetic fault.

In addition, the neurons were making too much of a particular body chemical linked to the manufacture of dopamine and norepinephrine, which play a significant role in sensory processing and social behaviour.

Dr Ricardo Dolmetsch, who led the study, said that the abnormalities found tallied with other evidence that autism was due in part to poor communication between different parts of the brain.

The team managed to reduce significantly the number of these malfunctioning neurons by adding a drug as they developed.

This, they said, meant it might be possible one day to treat this defect in a real patient, although the drug used was not currently suitable for children due to side-effects.

The National Autistic Society gave a cautious welcome to findings, but warned that they did not necessarily offer insights into every form of autism.

Researcher Georgina Gomez said: "Timothy syndrome is only one form of autism and so these findings only give a very limited picture of what might cause the condition.

"More work would need to be done to substantiate this particular piece of research."

Sunday, 27 November 2011

EU Parliament Votes To Oppose Most Farm Antibiotic Use

EU Parliament Votes To Oppose Most Farm Antibiotic Use mengele-westof

A quick post, because I’m on a ferocious deadline, but still can’t let this news go by. In a vote that’s non-binding but high profile and influential, the European Parliament has resolved to end “prophylactic use” of antibiotics in farming, and to prevent any “last resort” antibiotics from being used in animals, in order to keep resistance from developing so that the drugs will still be effective in human medicine.

This is a significant development. The European Union has already banned “growth promotion,” the use of micro-doses of antibiotics that cause meat animals to fatten more quickly. What the Parliament is doing here is asking the European Commission, the EU’s law-making body, to add “disease prevention” use to the ban. That’s the delivery of treatment-strength doses of antibiotics to all animals on a farm in order to prevent their becoming ill as a result of the confinement conditions in which they are held. It accounts for a substantial portion of the antibiotics used in agriculture, and is a major driver of the emergence of antibiotic-resistant organisms.

The “Resolution on the Public Health Threat of Antimicrobial Resistance” says, in part, that the body:

29. Calls on the Commission to make legislative proposals to phase out the prophylactic use of antibiotics in livestock farming;

30. Stresses that the livestock and intensive fish-farming sectors should focus on preventing disease through good hygiene, housing and animal husbandry, as well as strict bio-security measures, rather than the prophylactic use of antibiotics;

31. Calls, in particular, for the establishment of good practices for animal husbandry which minimise the risk of antimicrobial resistance; emphasises that these practices should in particular apply to young animals brought together from different breeders thus increasing the risk of communicable diseases;…

33. Calls for a separation between the active ingredients and effect mechanisms used in human medicine and veterinary medicine, to the extent possible, to reduce the risk of resistance against antibiotics being transferred from livestock to humans, but points out that this must not result in the imposition of restrictions on existing treatment options that are effective;

34. Considers that the use of so called ‘last resort’ antibiotics targeting problematic human pathogens should be permitted for agricultural use only under licensed conditions combined with resistance monitoring, preferably on an individual basis…

For a quick read, here’s the press release, and for a longer one, here’s the full resolution, which admirably tackles overuse and misuse of antibiotics in human medicine, shortfalls in drug development, and the need for new quick diagnostics as well. Note also that it does not forbid the use of antibiotics to treat individual sick animals; no one that I am aware of has ever argued against that. According to the UK paper Farmers’ Guardian, agricultural unions are already objecting.

See Also:

mengele plus

Wednesday, 30 November 2011

e.coli- Extended Spectrum Beta Lactamase e. coli 'not from Singleton Hospital