Tag: "variant" at medical news

Rice uses buckyballs to reinvent 'antibiotic of last resort'

...il 17, 2003 -- Rice University chemists hope a new variant of vancomycin that contains buckyballs -- tiny cage-shaped molecules of pure carbon -- could become the world's first targeted antibiotic, creating a new line of defense against bioweapons like anthrax. Vancomycin, which entered clinical service 40 y...

In 15 seconds, new test will ID presence of 25 most common mutations of cystic fibrosis

...or physicians and patients because this particular variant is not indicative of CF unless associated with the rare mutation (R117H) detected in the ACOG panel. Therefore, a reflex panel has been recommended to test for this particular variation only in the presence of the mutation. The ACOG guidelines requir...

UCSF-led team discovers possible cancer 'susceptibility' gene

A UCSF-led team has identified a common variant of a gene known as Aurora2 that may increase susce...netics, support the emerging viewpoint that common variant forms of some genes can contribute to cancer susceptibility, particularly when a number of these var...

FDA approves Baxters ADVATE for the treatment of hemophilia A

...uses or pathogens, such as HIV, West Nile Virus or variant Creutzfeldt-Jakob Disease (vCJD), the human form of mad cow disease. The Medical and Scientific Advisory Council (MASAC) of the National Hemophilia Foundation has issued formal recommendations (#141) advising that "all efforts should be made to rem...

Sphingosine kinase inhibitors may hold key to halting growth of some tumors

...ivity in an intact animal. The group synthesized a variant of one of the inhibitors, and tested its effects on tumors growing in mice (following the procedures and protocols approved by the Animal Care and Use Committee of Penn State College of Medicine.) These studies showed that tumors in mice that were tr...

New Penn study shows genes may influence smoking cessation

...ts," said Lerman. In previous research, the same variant of the dopamine transporter gene has been associated with higher levels of dopamine in the brain and this may facilitate smoking cessation. "Future smoking cessation studies should evaluate genetic predisposition, as well as the influence of psycholo...

Iressa news backgrounder

...ous cell carcinoma of the skin, an aggressive rare variant of common skin cancer. "Whereas many cancers use redundant pathways to maintain their growth and so would not be especially damaged by EGF receptor inhibitors, we believe some, such as the squamous cell carcinoma of the skin, may be especially depen...

In lab studies, blocking expression of gene reduces invasion of deadly brain tumor cells

...ute published their findings that one "isoform" or variant of a specific gene was significantly upregulated in high-grade, malignant brain tumors called glioblastoma multiforme (GBM). They theorized that this increased activity might be a critical step in the development, progression and spread of these high...

'Reset switch' for brain cells discovered

...ate mRNA splicing yields a receptor protein with a variant of this bit that encourages the receptor to attach to the transport machinery. "It's a very surprising mechanism, and it explains a lot," said Ehlers. "It explains why the process is relatively slow, because the process of changing splicing of new pr...

Only one more case of vCJD in Ireland - probably

...he Republic of Ireland (ROI) is likely to die from variant Creutzfeldt-Jakob disease (vCJD) as a consequence of eating BSE infected meat, say scientists. The prediction, published this week in BMC Infectious Diseases, will reassure the Irish who suffered the second highest incidence of BSE worldwide after t...

Hot flash drug may hinder effectiveness of tamoxifen

...al CYP2D6 genotype but by only 24% in women with a variant CYP2D6 genotype. The authors say that these findings "raise the possibility that pharmacogenetic variation in CYP2D6 activity may influence therapeutic outcomes from tamoxifen treatment." However, they write, "larger trials are required to evaluate ...

JCI Table of Contents

...e addressed in further evaluations of this genetic variant as a putative contributor to human obesity. TITLE: The SLC6A14 gene shows evidence of association with obesity AUTHOR CONTACT: Pivi Pajukanta University of California School of Medicine, Los Angeles, California, USA Phone: 310-794-9802 Fax: 310-79...

A pair of discoveries helps unravel complex genetics of inflammatory bowel disease

...ound six variants of the gene, and showed that one variant - involving a small deletion of the NFKB1 gene seq...netic techniques revealed that this NFKB1 deletion variant was significantly increased in the 131 ulcerative colitis offspring, and thus strongly suggested a l...

Genomics research: New genetic 'hit list' may underlie susceptibility to sudden cardiac death

...portunity for important studies." For example, one variant -- Q9E-MiRP1 -- previously identified as a disease-causing arrhythmia mutation -- had not been seen in over one thousand control subjects. Yet this study showed that Q9E-MiRP1 is present in about five percent of blacks and therefore could predispose ...

First link found in humans between common gene and artery-clogging disease

...effen School of Medicine at UCLA. People with a variant form of a gene called 5-lipoxygenase (ALOX5) have a greater risk of atherosclerosis, a build-up of cholesterol in artery walls that contributes to heart disease, scientists report in the Jan. 1 issue of the New England Journal of Medicine. The high-r...

Air pollution may significantly worsen respiratory allergies in individuals with genetic risk

...ed GSTM1 and had at least one GSTP1 ile105 genetic variant had an even larger allergic response to diesel exhaust particles than did the participants with the other versions of the genes. Researchers estimate that 15 to 20 percent of the population has both genetic variations. This represents a large group e...

Action needed to prevent spread of vCJD

Urgent action is needed to protect the public from variant Creutzfeldt-Jakob disease (vCJD), a senior member of the Medical Research Council writes in this week's BMJ. Dr Sheila Bird argues that the death of the first probable victim of vCJD from a blood transfusion means that steps must be taken to define t...

Emotion-regulating protein lacking in panic disorder

...n panic disorder. Noting the recent discovery of a variant of the 5-HT1A receptor gene linked to major depression and suicide, the researchers suggest that reduced expression of the receptor "may be a source of vulnerability in humans, and that abnormal function of these receptors appears to specifically imp...

Mad cow has confidence stirred, but not shaken

...ed to result in a similar human condition known as variant Creutzfeldt-Jakob disease (vCJD), a rare and fatal brain disease for which there is no treatment or cure. While news of the discovery immediately evaporated the $3 billion U.S. beef export market, Americans are relatively unperturbed. Most said thei...

Blood transfusion poses CJD risk

...for infection by the prion protein responsible for variant Creutzfeldt-Jakob disease (vCJD). The death from vCJD of an individual in the UK who had previously received a blood transfusion from a donor who went on to have vCJD was announced on December 17, 2003. Robert Will from the National CJD Surveillance...

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