New Look for NLM® and the New York Academy of Medicine Resource Guide Web Site

Faulty gene linked to disorders of sexual development

From a December 3, 2010 Eureka news alert

Scientists have discovered that the alteration of a single gene could cause some male embryos to develop as females. The breakthrough will improve diagnosis and clinical management of patients with disorders of sex development (DSD). These conditions occur when the testis or ovary does not develop properly in the embryo, causing genital abnormalities in one in 4500 babies. An international team including researchers from the Murdoch Childrens Research Institute and the University of Melbourne identified the gene alteration in a group of patients including two families with several affected members. The alteration occurred in a gene called MAP3K1, which plays a role in switching on genes that direct the gonad to become a testis. Males normally have one X and one Y chromosome and females have two X chromosomes. But researchers found that the alteration of the MAP3K1 gene disrupted the normal process of testis development, resulting in a male XY embryo developing female characteristics including female genitalia and an overall feminine appearance. Professor Andrew Sinclair, lead researcher from the Murdoch Childrens Research Institute and the University of Melbourne said the discovery showed the underlying cause of testis failure in these patients, which would help provide a diagnosis and guide clinical management of cases in the future. “To date, we know of only a small number of genes that are involved in gonad development, and can only diagnose about 20 per cent of DSD patients,” he said. “Based on our study, we believe mutation of the MAP3K1 gene could be responsible for a further 20 per cent of XY DSD cases. This is a major breakthrough as the MAP3K1 gene provides new insights into normal testis development and significantly increases the number of DSD cases we can diagnose in the future.” ### The

study, published today in the American Journal of Human Genetics***, was undertaken in collaboration with the Women’s and Children’s Hospital, Adelaide, New York University School of Medicine, MRC Mammalian Genetics Unit, UK, Centre Hospitalier Universitaire de Nantes, France.

*** For suggestions on how to get this article for free or at low cost, click here

Over-reactive immune system kills young adults during pandemic flu

Another reason to get a flu shot (especially young adults)…….

From the December 5, 2010 Eureka news alert

On November 19, Jason Martin returned to the Medical Intensive Care Unit (MICU) at Vanderbilt University Medical Center for the first time since he nearly died there during last year’s H1N1 flu pandemic. The tall and burly Warren County, TN, ambulance worker – a 30-year-old, father of three young children – broke down and hugged some of the nurses he recognized.

“I got sick on September 12 and didn’t come out of it for the next 20 days. I am just so grateful I came through,” Martin said, wiping his eyes.

Martin was among the first wave of critically ill middle Tennesseans, hit hard by the H1N1 flu pandemic in late 2009. A hallmark of pandemic flu throughout history, including the H1N1 pandemic, has been its ability to make healthy young and middle-aged adults seriously ill and even kill this population in disproportionate numbers.

In a paper published Dec. 5 in Nature Medicine, Fernando Polack, M.D., the Cesar Milstein Associate Professor of Pediatrics at Vanderbilt, and colleagues in Argentina and Nashville provide a possible explanation for this alarming phenomenon of pandemic flu. The study’s findings suggest people are made critically ill, or even killed, by their own immune response…

…

“We have seen this before. Where non-protective antibody responses are associated with an immune-based disease in the lung,” Polack said.

Polack has previously published evidence that a first-line immune response, primed by an imperfect antibody, can overreact in a violent and uncontrolled fashion. Patients die from lung damage inflicted by their own immune system. A molecule called C4d, a product of this biochemical cascade (the complement system), is a marker for the strength of the response.

In adults who died during the 2009 H1N1 pandemic, high levels of C4d in lung tissues suggest a massive, potentially fatal activation of the complement system.

Pulmonary and critical care physician, Todd Rice, M.D., assistant professor of Medicine at VUMC, has seen people killed by the “exuberant” and uncontrolled response of the immune system in other diseases – like sepsis….

…

While many questions remain, one thing is clear: the H1N1 vaccine offers protection. Patients who died were overwhelmingly unvaccinated. Many fell ill before a vaccine was even available. [Editor Flahiff’s empahsis]

Nursing homes are seeking to end the stupor

[Editor Flahiff’s note: I remember visiting my great aunt in a nursing home in the early 70’s (I was in my late teens) I found the stupor among the residents very sad…this story was very refreshing to read…

My husband can attest to the importance of personal attention…he is retired and goes to senior centers daily for lunch and the “pool halls”. He makes it a point to visit with those sitting alone at lunch…and has brought a number of folks out their shells during the past few years]

Instead of treating behavioral problems with antipsychotic drugs, the Ecumen chain of 15 homes is using strategies including aromatherapy, massage, music, games, exercise and good talk. The state is helping out.

From the December 4th Star Tribune article by Warren Wolfe (via a NetGold Posting by David P Dillard )

The aged woman had stopped biting aides and hitting other residents. That was the good news.

But in the North Shore nursing home‘s efforts to achieve peace, she and many other residents were drugged into a stupor — sleepy, lethargic, with little interest in food, activities and other people.

“You see that in just about any nursing home,” said Eva Lanigan, a nurse and resident care coordinator at Sunrise Home in Two Harbors, Minn. “But what kind of quality of life is that?”

Working with a psychiatrist and a pharmacist, Lanigan started a project last year to find other ways to ease the yelling, moaning, crying, spitting, biting and other disruptive behavior that sometimes accompany dementia.

They wanted to replace drugs with aromatherapy, massage, games, exercise, personal attention, better pain control and other techniques. The entire staff was trained and encouraged to interact with residents with dementia.

Within six months, they eliminated antipsychotic drugs and cut the use of antidepressants by half. The result, Lanigan said: “The chaos level is down, but the noise is up — the noise of people laughing, talking, much more engaged with life. It’s amazing.”…

….Medicare spends more than $5 billion a year on those [antipsychotic] drugs for its beneficiaries, including about 30 percent of nursing home residents. Several studies have concluded that more than half are prescribed inappropriately. The drugs are especially hazardous to older people, raising the risk of strokes, pneumonia, confusion, falls, diabetes and hospitalization….

….

Instead of looking for causes of disruptive behavior among dementia patients, doctors typically prescribe drugs to mask the symptoms, he said, because “It’s the easy thing to do. … That’s true in hospitals, in clinics and in nursing homes.”

Federal regulators are cracking down on homes that don’t routinely reassess residents on psychotropic drugs. But use remains widespread….

…

A New Look and Feel for the PubMed Central® Public Access Page

Since 2005,  scientists and researchers who receive NIH research are required by law to make their research findings (in medical or scientific journals) freely available to the public.

These freely available full text articles are largely available through PubMed Central.
PubMed Central is a free electronic collection of medical, biomedical, biology, and life sciences literature developed and maintained by US government agencies. PubMed Central is a subset of PubMed, the largest collection of biomedical article citations and abstracts in the world.

PubMedCentral articles have unique identifiers (article reference numbers) referred to as PMIDs.

The news item below describes how PubMed Central (PMC) is making it easier to locate articles with PMCIDs.

 

From the National Library of Medicine (NLM) November 30th Technical Bulletin item

The PubMed Central (PMC) Public Access & PMC page, available from the sidebar on the About PMC page, was recently updated to provide greater clarity and usability. Two new features were added:

• Top-of-the-page links to navigate page content
• A table for locating article reference numbers

New Location for Navigation Links

The Public Access & PMC page was reorganized and links to the page content are now at the top of the page (seeFigure 1). The new design makes it easy to see what the page contains and how to find the answers to your Public Access-related questions.

We’ve Got Your NumbersAdditionally, a new table (see Figure 2) demonstrates all the ways to locate the identification number of an article or manuscript — whether you’re looking for a PubMed identifier (PMID), NIH Manuscript Submission identifier (NIHMSID) , or perhaps most important, the PMC identifier (PMCID), which is the identification number that must be cited by recipients of NIH funding to demonstrate compliance with the NIH Public Access Policy. As seen in the table below, you can find these numbers through viewing the PubMed abstract; a PMC search result; and in the PMC display for the final, published article or the author manuscript. To reach this table click on the question, “How can I find a PMCID, NIHMSID, and PMID?”

 

 

To see more of the article, click here.

An earlier posting includes PMC as one of a few suggestions to obtain free and low cost medically-related articles.
Click here for the posting.