February 16, 2009, 10:07 PM CT

Watch for eye disorder in those children with hearing loss

About one-fifth of children with sensorineural hearing loss also have ocular disorders, as per a report in the recent issue of Archives of OtolaryngologyHead & Neck Surgery, one of the JAMA/Archives journals.

An estimated one to three per 1,000 children have some degree of sensorineural hearing loss, which occurs as a result of damage to the nerves or the inner ear, as per background information in the article. Half of all cases in children result from environmental causes and half from genetic causes; one gene, GJB2, accounts for a large proportion of sensorineural hearing loss cases in white patients.

"Particularly early in life, sensorineural hearing loss is linked to delays in language, speech, cognitive and social development," the authors write. "Given the effects of hearing impairment, children with sensorineural hearing loss are especially dependent on other means of information acquisition. If these children were to have unrecognized ophthalmologic abnormalities that limited visual acuity, there could be further detrimental effects on development".

Arun Sharma, M.D., of the University of Washington, Seattle, and his colleagues evaluated ophthalmologic findings in 226 patients with sensorineural hearing loss who were seen at a children's hospital between 2000 and 2007. Of these, 49 (21.7 percent) had an ophthalmologic abnormality, including 23 (10.2 percent) with refractive errors (including nearsightedness, farsightedness and astigmatism) and 29 (12.8 percent) with non-refractive errors. The cause of sensorineural hearing loss was syndromic (having other symptoms associated) in 11 patients (4.9 percent), and 5 (2.2 percent) had syndromes with related eye problems......... Posted by: Emily      Read more         Source

February 11, 2009, 6:07 AM CT

Guide to End-of-Life Care

Years ago, dying patients in most communities often had a single option if they needed hospice care. Now they have a number of more; competition reigns.

This is one crucial reason why a Brown University researcher and end-of-life expert has helped develop user-friendly guides for both doctors and patients about the best hospice care options in the marketplace.

"While all hospice programs are very good, there are some programs that are really excellent," said Joan Teno, M.D., a professor of community health and medicine at the Warren Alpert Medical School of Brown University. "You want to choose the hospice program that is striving and achieving excellence in quality of care".

Teno's guide for doctors would be reported in the Feb. 11 edition of the Journal of the American Medical Association, part of a series titled "Perspectives on Care at the Close of Life." Her article, "Referring a Patient and Family to High-Quality Palliative Care at the Close of Life," is co-written with Stephen Connor, vice president for research and international development at the National Hospice and Palliative Care Organization.

Teno and Connor are at work on a user-friendly guide for patients and families that incorporates a portion of the JAMA article but with more streamlined language accessible to the general public......... Posted by: Emily      Read more         Source

February 5, 2009, 6:14 AM CT

Risk of carrying extra gene copies

Is more of a good thing better? A gene known as LIS1 is crucial for ensuring the proper placement of neurons in the developing brain. When an LIS1 gene is missing, brains fail to develop the characteristic folds; babies with lissencephaly or 'smooth brain' are born severely mentally retarded. But new research by Prof. Orly Reiner of the Institute's Molecular Genetics Department, which recently appeared in Nature Genetics, shows that having extra LIS1 genes can cause problems as well.

Reiner was the first to discover LIS1's tie to lissencephaly, in 1993. Their latest study shows that it works by helping to determine polarity in the cell - how the various organelles are arranged inside the cell as well as where it connects to neighboring cells. Neurons alter their polarity several times during development, particularly when they take on an elongated shape and migrate to new locations in the brain.

But what if, rather than too little, the body has too much LIS1? One of the surprises to come out of the recent spate of post-human-genome research is the number of genes that can be repeated or deleted in an individual's genome. Most extra copies of genes appears to be no more harmful than a computer backup disk, but researchers have been finding that some repeats can cause disease......... Posted by: Emily      Read more         Source

February 4, 2009, 6:19 AM CT

Secrets of gene regulatory networks

A quartet of studies by scientists at the California Institute of Technology (Caltech) highlight a special feature on gene regulatory networks recently reported in the Proceedings of the National Academy of Sciences (PNAS).

The collection of papers, "Gene Networks in Development and Evolution Special Feature, Sackler Colloquium," was coedited by Caltech's Eric H. Davidson, the Norman Chandler Professor of Cell Biology. His coeditor was Michael Levine, professor of genetics, genomics and development at the University of California, Berkeley.

"The control system that determines how development of an animal occurs in each species is encoded in the genome, and the physical location of the sequences where this code is resident is being revealed in a new area of systems biology--the study of gene regulatory networks," says Davidson. Gene regulatory networks are the complex networks of gene interactions that direct the development of any given species.

The papers in the collection focus on the gene regulatory networks of a variety of organisms, including fruit flies, soil-dwelling nematodes, sea urchins, lampreys, and mice.

"These networks lie at the heart of the regulatory apparatus, and they consist of genes that encode proteins that regulate other genes, and the DNA sequences which control when and where they are expressed," says Davidson, who authored a paper in the special feature about a gene regulatory network found in sea urchin embryos. He and Levine also coauthored a perspective in the same issue of the journal on the properties of gene regulatory networks......... Posted by: Emily      Read more         Source

February 4, 2009, 6:12 AM CT

New schizophrenia gene

Scientists at the Johns Hopkins University School of Medicine are one gene closer to understanding schizophrenia and related disorders. Reporting in the Jan. 9 issue of the American Journal of Human Genetics, the team describes how a variation in the neuregulin 3 gene influences delusions linked to schizophrenia.

"Neuregulin 3 is clearly one more gene to add to the few currently known to contribute to schizophrenia," says David Valle, M.D., director of the McKusick-Nathans Institute of Genetic Medicine at Hopkins. "There's much more to do, but we're making progress".

Schizophrenia is a varied condition with many symptoms not shared by all affected. This could be one reason why it's been difficult to identify genes that contribute to the condition.

To address this, the team first rigorously separated the 73 different symptoms into nine distinct factors linked to the conditionprodromal, negative, delusion, affective, scholastic, adolescent sociability, disorganization, disability, hallucination.

Then, using genetic samples from more than 450 people with schizophrenia and their parents as well as unrelated non-affected people for comparison, the team focused on one region of chromosome 10 that previously had been implicated to contain genes that contribute to the condition. They analyzed more than 1,400 single nucleotide polymorphisms, or SNPs for short, to see if any particular SNPs were more frequently carried by schizophrenia patients than unaffected people......... Posted by: Emily      Read more         Source

Sat, 31 Jan 2009 15:33:27 GMT

What's on the web?

• 2008 Medical Weblog Awards Sponsored by Epocrates: Meet the Winners! (Medgadget): Congratulations to all the participants and many thanks to the Medgadget Team for managing this prestigious competition again! Kerri Morrone took the well-deserved Best Patient’s Blog of 2008 award.

• Britannica Wants to Be More Like Wikipedia: Lets Users Contribute (Read Write Web): Who would like to dedicate time and effort to a project where your work can be totally ignored in seconds without explanation?
  
  

• Reduce Death After Surgery by 40% with Research Adapted into an iPhone App (PRlog.com):

Though there are an estimated 234 million operations performed annually worldwide, surgical complications are common and often preventable.  The WHO has developed the ‘Surgical Safety Checklist’, in an effort to help surgical teams confirm that critical safety steps are completed before an operation proceeds.

Prompted by a recent scholarly article that shows a reduction in post-surgical death by more than 40%, this critical research has been adapted into an ‘App’ or software application for the Apple iPhone. Posted by: Bertalan      Read more     Source

January 30, 2009, 6:08 AM CT

A common thread in age-related neurodegenerative diseases

How are neurodegenerative diseases such as Alzheimer's initiated, and why is age the major risk factor? A recent study of a protein called MOCA (Modifier of Cell Adhesion), carried out at the Salk Institute for Biological Studies, provides new clues to the answers of these fundamental questions.

Under normal circumstances, MOCA is a key member of the squadron charged with keeping Alzheimer's disease at bay. A team of scientists led by Salk professor David Schubert, Ph.D., demonstrated what happens when MOCA goes on furlough. In the process Schubert identified a novel pathway with broad implications for both Alzheimer's and other age-related neurodegenerative diseases.

Their findings, published in the current issue of the Journal of Neuroscience, show how neurodegenerative disease starts, initiating in the nerve ending and inducing gradual changes, like a chain reaction over a long time. The animal model used in the study also will allow researchers to better understand the processes behind the formation of the protein aggregates that are common to most neurodegenerative diseases. In addition, it will provide new opportunities to target the earliest steps for treatment.

MOCA was initially identified as a protein that binds to presenilin, a molecule that when mutated causes familial Alzheimer's disease. MOCA is only found in neurons and regulates the expression of the beta amyloid protein responsible for the Alzheimer's plaques that are the hallmark of the disease. To better understand MOCA's function, Qi Chen, Ph.D., a senior scientist in Schubert's laboratory, created a line of mice genetically engineered to lack the gene for MOCA......... Posted by: Emily      Read more         Source

January 30, 2009, 6:00 AM CT

Reducing preterm births

New research that may explain why taking progesterone to prevent preterm birth is only effective for some women was unveiled today at the 29th Annual Society for Maternal-Fetal Medicine (SMFM) meeting The Pregnancy Meeting.

The drug, 17 alpha-hydroxyprogesterone caproate (or 17P), a synthetic form of the progesterone hormone naturally produced during pregnancy, has been demonstrated in clinical trials to prevent some recurrent preterm births but not all.

"This study helps strengthen the theory that genetic variation in the human progesterone receptor plays an important role in the effectiveness of 17P," states Tracy Manuck, M.D., study author and SMFM member.

Women who have a spontaneous preterm delivery are at greatly increased risk of preterm delivery in subsequent pregnancies. Preterm birth is a leading cause of infant death in the United States and babies who survive face serious lifelong health problems. More than 543,000 babies are born too soon each year and recent federal statistics show that the nation's preterm birth rate has risen to 12.8 percent -- a 36 percent increase since the early part of 1980s.

"Dr. Manuck's research gives us a tantalizing clue as to why 17P works for some women, but not for others," said Alan R. Fleischman, M.D., senior vice president and medical director of the March of Dimes. "With further research along these lines, we hope to someday be able to prevent preterm birth from happening in the first place by screening women before they get pregnant, and identifying those whose babies could get a healthy start in life with the help of 17P"......... Posted by: Emily      Read more         Source

Thu, 29 Jan 2009 06:15:39 GMT

Medicine Meets Virtual Reality

After the first day’s excitement and new faces, I took some photos on the second day as I spent hours in The Well that seemed to be a huge success.

The Well is a space for one-on-one, laptop-based demos and select, large-scale technology displays. The Well complements the traditional commercial and academic exhibits, expanding the forum of ideas and devices. Demos in The Well will be scheduled and impromptu.

A few images, links and descriptions about the devices and tools we could see there.

Philip Weber & Jacopo Annese PhD (The Brain Observatory, University of California, San Diego & CalIt)

Installation: The Digital Light Box is a scalable visualization environment for radiological and pathological examinations that enables researchers to visualize and inspect high resolution (gigabyte size) images created by multiple imaging modalities, including virtual microscopy.

It was my personal favourite device today. It makes it quite easy to perform a proper intubation as the camera helps you how to navigate easily. More information here.

The Virtual Reality Medical Center presented the next generation injury creation science. Such models can make simulations as realistic as possible. You can also trigger bleeding or simulate different types of injuries. Click here for more information.

The project of Albert Rizzo demonstrates how post-traumatic stress disorders could be treated by using virtual reality therapy. You can see a military scene with weapon, if you stand on that square, you can feel the bombings and hear gunfire, etc. Read more about it here.

Forterra Systems created a new environment for medical simulations. This platform is quite different from Second Life as it is a closed and secure system and many simulations have already been implemented into it. Communication is easy but, of course, it"s not for free.

A prostethic arm from Hanger.com. Read more about their microprocessor controlled hydraulic knee in our interview.

An XBOX based bronchoscopy simulation. If you are good at video games, you will find it easy to handle the device. Future surgeons should start with military games and video games that require major skills.

That"s for today. Stay tuned for more images tomorrow from The Salon.

I will do a workshop about the medical places of Second Life and will give a presentation about how practicing medicine will change in the web 2.0 world. Posted by: Bertalan      Read more     Source

January 26, 2009, 11:39 PM CT

Genetic hotspots associated with psoriasis

A genomewide scan of millions of genetic mutations has revealed four new DNA "hotspots" that affect the risk for psoriasis, a national group of scientists led by the University of Michigan and including several from the University of Utah School of Medicine has shown in a just-published study.

Appearing Jan. 25 in Nature Genetics online, the study also confirmed that two other previously identified DNA sites, discovered by scientists at the University of Utah and Celera Group, have a high association with psoriasis, an automimmune disease that can affect the joints and cause sore, itchy patches of skin in an estimated 7.5 million people in the United States.

The study was led by James T. Elder, M.D., Ph.D., a dermatologist who heads a group at the University of Michigan with long-standing interest in and an international reputation for its work in the genetics of psoriasis, and Goncalo Abecasis, Ph.D., a biostatistician at the University of Michigan. They elected to make the study a collaboration with scientists at Washington University in St. Louis and the University of Utah. Gerald G. Krueger, M.D., professor of dermatology and Benning Presidential Endowed Chair holder at the U of U, and his colleague Kristina Callis Duffin, M.D., assistant professor of dermatology, led the Utah portion of the study......... Posted by: Emily      Read more         Source