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Recent News and Articles on the Keywords: rare disease + rare + diseases  Related to the article below (Last Update: 8/5/2008)


eMaxHealth.com
A rare glimpse of schizophrenia's genetic roots
eMaxHealth.com, NC -
The delusions and hallucinations of schizophrenia can be devastating for the 1% of the population struck by the disease. The condition clearly has a genetic ...
Local woman talks with Dr. Phil about rare disease
WNDU-TV, IN -
She had both legs amputated below the knee and lost most of her fingers after a rare flesh-eating disease. Since then Kim has been doing well. ...

ABC News
More than 100000 rare gorillas found in Congo
CNN International -
Their populations are declining rapidly because of hunting and diseases like Ebola hemorrhagic fever, whose symptoms include diarrhea, vomiting and internal ...
Fresh hope for gorillas as population found to be double previous ... Telegraph.co.uk
Conservationists Take Census, Find 125000 Lowland Gorillas in ... ABC News
Lowland gorilla numbers doubled after survey Telegraph.co.uk
all 256 news articles »

OverTheLimit.info
For Elderly, Prostate Cancer Screening May Harm More Than Help
Wall Street Journal Blogs, NY -
... impotence and, in rare cases, death ? against the benefits of preventing the spread of aggressive forms of the disease, which is the second leading ...
US Panel Questions Prostate Screening Washington Post
all 549 news articles »
Diagnosing through pulse
Times of India, India -
... a rare chance. 67-year-old Ramakrishna has been practising Naadi Shastra for more than 32 years. Radhakrishna claims to diagnose and prognose diseases ...
Money raised for rare bone disease
KCOY.com, California - Aug 3, 2008
FOP -- or Fibrodysplasia Ossificans Progressiva -- is a rare genetic disease which causes muscles and other connective tissue to turn into bone, ...
Obese people 'should not be denied knee replacement'
Telegraph.co.uk, United Kingdom -
Nick Fiddian, president of the British Association for Surgery of the Knee, said that it was "pretty rare" for patients to be turned away from surgery, ...
A decision to help amputee fighting rare disease
Daily Press, VA - Aug 3, 2008
Twelve years ago he was diagnosed with a rare and severe form of Hereditary Sensory and Autonomic Neuropathy, which renders him unable to feel pain or heat ...
Missing DNA chunks tied to risk of schizophrenia
Jackson Clarion Ledger, MS -
These deletions are rare, each found in less than 1 percent of patients. But each one boosts the risk of disease by as much as 15-fold, by one estimate. ...
NIDDK Resource Helps Guide Women with Diabetes through Healthy ...
Media Newswire (press release), NY -
... supporting basic, clinical and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. ...
Source: Google News

The detection of clusters in rare diseases
J Besag, J Newell - Journal of the Royal Statistical Society, Series A, 1991 - JSTOR
The Detection of Clusters in Rare Diseases. ... The detection of clusters must be seen
merely as a first phase in determining the aetiology of a rare disease. ...

[CITATION] … : National Heart, Lung, and Blood Institute and Office of Rare Diseases (National Institutes of … -
GD Pearson, JC Veille, S Rahimtoola, J Hsia, CM … - JAMA: The Journal of the American Medical Association, 2000 - JAMA
... The incidence of PPCM is not known because population-based estimates are not available,
and the diagnosis of this rare disease is not always straightforward. ...

Rare diseases-1: Lymphangioleiomyomatosis: clinical features, management and basic mechanisms. -
S Johnson - Thorax, 1999 - pt.wkhealth.com
... March 1999, 54:3 > Rare diseases - 1: Lymphangioleiomyomatosis:... ...
Lymphangioleiomyomatosis, a rare disease of unknown aetiology, affects women only. ...

ON THE NEED FOR THE RARE DISEASE ASSUMPTION IN CASE-CONTROL STUDIES -
S GREENLAND, DC THOMAS - American Journal of Epidemiology, 1982 - Oxford Univ Press
... All rights reserved ON THE NEED FOR THE RARE DISEASE ASSUMPTION IN CASE-CONTROL
STUDIES ... On the need for the rare disease assumption In case-control studies. ...

Office of Rare Diseases Neuropathologic Criteria for Corticobasal Degeneration. -
DW DICKSON, C BERGERON, SS CHIN, C DUYCKAERTS, D … - Journal of Neuropathology & Experimental Neurology, 2002 - jneuropath.com
November 2002, 61:11 > Office of Rare Diseases Neuropathologic... ... Office of Rare
Diseases Neuropathologic Criteria for Corticobasal Degeneration. ...

… in the Study of Common Diseases: Updates on the Demise of the Rare Disease Assumption and the … -
L RODRIGUES, BR KIRKWOOD - International Journal of Epidemiology, 1990 - IEA
... Demise of the Rare Disease Assumption and the Choice of ... The necessity for this 'rare
disease assumption' remained unchallenged until 1976 when Miettinen 14 ...

A class of tests for detecting'general'and'focused'clustering of rare diseases. -
T Tango - Stat Med, 1995 - ncbi.nlm.nih.gov
Stat Med. 1995 Nov 15-30;14(21-22):2323-34. A class of tests for detecting
'general' and 'focused' clustering of rare diseases. ...

Clinical trials and rare diseases: a way out of a conundrum. -
RJ Lilford, JG Thornton, D Braunholtz - BMJ, 1995 - ncbi.nlm.nih.gov
... conventional levels of statistical precision are unlikely to be obtainable
prospectively if the trial is required to evaluate treatment of a rare disease. ...

Are Rare Variants Responsible for Susceptibility to Complex Diseases? -
JK Pritchard - The American Journal of Human Genetics, 2001 - Elsevier
... Assumptions about the likely frequency spectrum of disease mutations are also ... there
tends to be more linkage disequilibrium around rare mutations (Kruglyak 1999 ...

Mutations in collagen genes: causes of rare and some common diseases in humans. -
H Kuivaniemi, G Tromp, DJ Prockop - FASEB J, 1991 - ncbi.nlm.nih.gov
... Most of the probands have rare genetic diseases but a few appear to have phenotypes
that are difficult to distinguish from more common disorders such as ...

Source: Google Scholar

Drug Approved to Treat Rare Genetic Disease

WASHINGTON (AP) -- The first drug treatment for the rare but potentially deadly inherited disease Hunter Syndrome was approved Monday by the Food and Drug Administration.

Shire Human Genetic Therapies of Cambridge, Mass., manufacturer of Elaprase, said it plans to have the drug available in the United States within 30 days.

The FDA approved Elaprase, also known as idursulfase, as an "orphan" drug. Orphan drugs are developed to treat illnesses that affect relatively small numbers of people and the manufacturer is granted a seven-year period of exclusive marketing.

Treatment is estimated to cost $300,000 per patient per year, according to Shire.

The FDA said Hunter Syndrome is diagnosed in approximately one out of 65,000 to 132,000 births.

"Regulatory approval of Elaprase will enable physicians to move needy patients beyond palliative care and make Hunter Syndrome a treatable disease," said Dr. Joseph Muenzer of the University of North Carolina at Chapel Hill, who conducted many of the trials of the product.

The illness affects mainly males, usually being diagnosed between the ages of 1 and 3, and makes the body unable to break down complex sugars.

Shire said Elaprase, which is given as a weekly infusion, replaces the missing enzyme that Hunter Syndrome patients fail to produce in sufficient quantities and can slow or stop progression of the disease.

Symptoms of the syndrome include growth delay, joint stiffness, coarsening of facial features and, in severe cases, patients experience respiratory and cardiac problems, enlargement of the liver and spleen, neurological deficits and death.

FDA said the new drug was approved following a placebo-controlled study of 96 patients with Hunter Syndrome. Treated participants had an improved capacity to walk and at the end of the 53-week trial, patients who received Elaprase infusions experienced on average a 38-yard greater increase in the distance walked in six minutes compared to the patients on placebo.

However, some serious side effects were reported including hypersensitivity reactions that could be life-threatening, the agency said. These included respiratory distress, drop in blood pressure and seizure.

Because of the potential for severe hypersensitivity reactions, appropriate medical support should be readily available when Elaprase is administered, FDA said.

Drug Experts Urge Better Prison Treatment

CHICAGO (AP) -- In its first report aimed at improving how the criminal justice system deals with drug addicts, the National Institute on Drug Abuse offered 13 guidelines Monday for what works - and what fails.

The key is understanding that drug addiction is a brain disease that affects behavior, and that it requires carefully monitored, personalized treatment, including access to medication such as methadone after the drug offender is released into society, the institute said.

"What does not work? Putting a person who is addicted to drugs in jail for five or 10 years and thinking that will cure him with no treatment," said Dr. Nora Volkow, director of the anti-drug abuse agency. "The likelihood of that person relapsing is very high."

The guidelines urge a mix of traditionally liberal and conservative approaches.

The institute argues that prisons and court-ordered treatment programs don't use methadone and other addiction medications enough. At the same time, the guidelines support pressuring offenders into treatment as a condition of probation and advocate urine testing during treatment to track and prevent relapses.

"The criminal justice system offers an extraordinary opportunity to help people with drug problems," Volkow said.

Every $1 spent on drug treatment programs also saves the nation an estimated $4 in crime costs, she said. The annual estimated cost to the U.S. for drug crimes is $107 billion.

The drug treatments Cheryl Cline started in an Illinois prison after using crack cocaine for nine years probably saved the 29-year-old's life. This week, she is marking her third drug-free year, and her life has been turned around.

While she was using, Cline said, she lived in an abandoned building or a car, and she shoplifted to support her habit. Today, she works as a waitress, has reunited with her family and is studying to be a drug counselor.

"I'd like people to know that everybody deserves an opportunity for treatment, but when you're on the outside and running wild most people won't take it," said Cline, who lives in Aurora. "Prison is one of the best places to do it because you are confined. You have nothing but time on your hands."

Maia Szalavitz, a drug policy expert not involved with the report, said the guidelines are excellent. Methadone is rarely used in the criminal justice system despite evidence that it helps people addicted to opioids such as heroin, she said.

She faulted the system's current reliance on 12-step programs modeled after Alcoholics Anonymous, which she said works for some people but not everyone.

"If these guidelines help addicts in the justice system to get more sensitive and appropriate care, they will be highly useful," said Szalavitz, a senior fellow at the media watchdog group Statistical Assessment Service. "But if systems are not put in place to ensure that the system rewards treatment excellence and drops harmful and ineffective methods, they won't do much."

---

The National Institute on Drug Abuse issued research-based guidelines for drug treatment in the criminal justice system on Monday.

1. Drug addiction is a brain disease that affects behavior.

2. Recovery from drug addiction requires effective treatment, followed by management of the problem over time.

3. Treatment must last long enough to produce stable behavioral changes.

4. Assessment is the first step in treatment.

5. Tailoring services to fit the needs of the individual is an important part of effective drug abuse treatment for criminal justice populations.

6. Drug use during treatment should be carefully monitored.

7. Treatment should target factors that are associated with criminal behavior.

8. Criminal justice supervision should incorporate treatment planning for drug abusing offenders, and treatment providers should be aware of correctional supervision requirements.

9. Continuity of care is essential for drug abusers re-entering the community.

10. A balance of rewards and sanctions encourages prosocial behavior and treatment participation.

11. Offenders with co-occurring drug abuse and mental health problems often require an integrated treatment approach.

12. Medications are an important part of treatment for many drug abusing offenders.

13. Treatment planning for drug abusing offenders re-entering the community should include strategies to prevent and treat medical conditions such as HIV/AIDS, hepatitis and tuberculosis.

---

Source: "Principles of Drug Abuse Treatment for Criminal Justice Populations," National Institute on Drug Abuse.

 
 
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