NEWS |
Whole-exome sequencing of skin cancer: study is the most comprehensive view of melanoma's genetic landscape
A conducted
teAm LeD by reSeArcherS at the national institutes of health (nih) is the first to systematically survey the landscape of the melanoma genome, the DnA code of the
deadliest form of skin cancer. the researchers have made surprising new discoveries using whole‑exome sequencing, an approach that decodes the 1–2% of the genome that contains protein‑coding genes. the study appears in the April 2011, early online issue of Nature Genetics. melanoma is the most
serious form of skin cancer and its incidence is increasing faster than any other cancer. A major cause is thought to be overexposure to the sun, particularly ultraviolet radiation, which can damage DnA and lead to cancer‑causing genetic changes within skin cells. the
researchers a
comprehensive genome analysis and explored the melanoma genome's functional components, especially gene alterations, or mutations. they studied advanced disease — the metastatic stage — when cells have the highest accumulation of gene mutations. 'melanoma is one of the most challenging solid
cancers to work with because it has such a high rate of mutation,' said senior author yardena Samuels, investigator in the cancer Genetics branch of the nhGri's Division of intramural
dNASurvEy of mElANomA
research. 'Whole‑exome sequencing will help us identify the most important changes.' nhGri researchers and a colleague from the
Johns hopkins Kimmel cancer center in baltimore designed and analysed the new study, while national cancer institute (nci) researchers and colleagues from the University oftexasmD Andersoncancercenter inhouston, and the University of
colorado
Denver School of medicine collected melanoma tumour samples. As a first step in the nhGri
study,
researchers obtained 14 metastatic melanoma tumour samples and matching blood samples from a collection maintained at nci. W h o l e ‑ e x o m e sequencing of the 28 samples was performed at the nih intramural Sequencing center. the exome sequence
data required a number of analytic steps to separate functionally important mutations from a large number of
total results. the first of these analyses differentiated the mutations that occur sporadically in the tumour, called somatic mutations, from inherited mutations. it entailed a comparison between the mutations observed in the blood samples and those from the tumour cells of the same individual. researchers eliminated from further analysis any tumour mutations that also occurred in normal tissue.
Bullying pushes 7-year-old to opt for plastic surgery on her ears
A 7-year old South Dakota girl, who has been a victim of bullying because her ears stick out, underwent an otoplasty—plastic surgery to reshape and pin back the outer ear. Samantha Roselle's mother told ABC's 'Good Morning America' that the surgical procedure was chosen as a preventive measure, in order to stop the bullying. Cami Roselles, Samantha's mother, said, 'Kids are mean. That's just how they are.' The operation, which lasted for over 2 hours, was successful, according to Dr. Steven Pearlman, the surgeon who performed the operation. He told ABC, 'Her ears look great!'
10 ❚ May 2011 |
prime-journal.com
Researchers find Botox eases painful
spinal headaches A Mayo Clinic case study has found that Botox may offer new hope to patients suffering disabling low cerebrospinal fluid (CSF) headaches. The successful treatment also offers new insight into Botox and headache treatment generally. The case study was presented on 13 March 2011 at the American Academy of Neurology meeting in Hawaii. Low CSF pressure headaches are
caused by an internal spinal fluid leak. The pain can range from slight to disabling. The headaches are most commonly triggered by a lumbar puncture. The pain is caused as fluid leaks out and the brain sags. For many patients, lying down has offered the only relief, because existing therapies were not fully effective. Traditional treatment is a blood patch, which is just that: a patch of the patient's blood injected over the puncture hole. The patient in the case study
suffered low CSF pressure headaches for 25 years. For most of that time, she only felt better while lying down, curtailing her day-to-day activities. Five years ago, she sought help. The patient has received Botox for 3 years and the results have been consistently positive. After each treatment, improvement would last for 3 months before pain returned, requiring another dose. While not cured, the patient is now able to live a more normal life.
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